UWorld Fun Facts Flashcards
Chronic bronchitis -- Chronic bronchitis vs emphysema --- Chronic bronchitis vs bronchiectasis
Chronic bronchitis (intact alveoli and capillary walls) vs emphysema (destruction of alveolar walls): they’re both obstructive lung diseases (FEV1/FVC <70% predicted)
- DLCO (diffusion capacity of the lung for CO; measures gas exchange between pulm capillaries and alveoli) - normal in bronchitis, decreased in emphysema
- CXR - prominent bronchovascular markings and flattening of diaphragm in bronchitis; decreased bronchovascular markings and hyperinflated lungs in emphysema
- more pronounced hypoxemia in bronchitis than emphysema
Chronic bronchitis: chronic productive cough for 3+ months in 2 successive years; can produce hemoptysis
Bronchiectasis: irreversible dilation and destruction of bronchi, resulting in chronic cough and inadequate mucus clearance. Hx of recurrent respiratory tract infections and chronic cough with daily production of copious mucopurulent sputum
Cycle: infectious insult/impaired bacterial clearance –> bacterial overgrowth –> neutrophil infiltration –> inflammation –> tissue damage/structural airway changes –> bacterial overgrowth
Aspergillosis
Invasive pulmonary aspergillosis - RF=immunocompromised; triad of fever, pleuritic chest pain, and hemoptysis. CT chest shows nodules with surrounding ground-glass opacities (halo sign). Tx: 1-2 weeks IV voriconazole + echinocandin –> prolonged therapy with oral voriconazole
Chronic pulmonary aspergillosis: RF = lung disease/damage; 3+ months of weight loss, cough, hemoptysis, fatigue, cavitary lesion +/- fungus ball, positive IgG serology. Tx: resect aspergilloma, voriconzole
Chorioamnionitis
Dx clinically by presence of maternal fever and 1+ of the following: uterine tenderness, maternal or fetal tachycardia, malodorous amniotic fluid, or purulent vaginal discharge
PROM = RF
NOT an indication for CS
Bone tumors: giant cell tumor of bone osteoid osteoma osteosarcoma Ewing sarcoma
Giant cell tumor of bone: benign, locally aggressive; presents with pain, swelling, dec ROM at involved site; osteolytic lesion with soap-bubble appearance (interspersed large osteoclast giant cells) on radiographs in the epiphyseal regions of the long bones; most commonly involves the distal femur and prox tibia around the knee joint
Osteoid osteoma: sclerotic cortical lesion with central nidus of lucency. Typically causes pain worse at night and unrelated to activity. Pain controlled with NSAIDs
Osteosarcoma: primary bone cancer in the metaphyses of long bones; Codman’s triangle in the metaphyses of long bones, “sunburst” pattern
Ewing sarcoma: primary bone cancer; onion skinning; diaphyses of long bones
Genetic immuno diseases: Wiskott-Aldrich syndrome Hyper-IgM syndrome Ataxia telangiectasia Chronic granulomatous disease CGD SCID (ADA deficiency) Leukocyte adhesion deficiency X-linked agammaglobulinemia Complement deficiency Selective IgA deficiency Primary ciliary dyskinesia Chediak-Higashi syndrome Common variable immunodeficiency
Wiskott-Aldrich syndrome: x-linked recessive defect in WAS protein gene –> impaire cytoskeleton regulation in leukocytes/platelets
Presentation: eczema, microthrombocytopenia, recurrent infections
Tx: stem cell transplant
Hyper-IgM syndrome: lack of CD40 ligand –> T cells cannot bind to the CD40 receptor on B cells –> B cells cannot switch the antibody isotype they produce
Ataxia telangiectasia: T cell deficiency associated with a defect in DNA repair –> immune dysfunction, progressive cerebella degeneration, high risk for cancer
Chronic granulomatous disease: x-linked recessive gene defect in NADPH oxidase enzyme complex –> inability of phagocytes to produce hydrogen peroxide in their lysosomes –> recurrent pulmonary and cutanoues infections; abscesses due to fungi or catalase-positive bacteria (Staph aureus, Burkholderia, aspergillus)
Dx: dihydrorhodamine 123 test, nitroblue tetrazolium test; these tests test neutrophil function via detection or absence of an oxidative burst
Ppx: antimicrobial ppx with TMP-SMX and itraconazole
Tx: immunomodulator therapy
SCID: severe T cell deficiency due to lack of maturation of T cells in the thymus –> severe B cell deficiency/dysfunction too
- ADA deficiency = AR form of SCID –» deficient formation of mature B and T lymphocytes
Tx: stem cell transplant
Leukocyte adhesion deficiency: recurrent skin and mucosal bacterial infections - lack of neutrophil migration –> no pus, poor wound healing although there is leukocytosis with neutrophilia; associated with delayed umbilical cord separation (>21 days)
X-linked agammaglobulinemia aka Bruton’s agammaglobulinemia: recurrent sinopulmonary and GI infections with absent B cell and Ig concentrations; exam shows absence of lymphoid tissue; normal T cell count
Complement deficiency: increased risk for disseminated bacterial infections particularly with encapsulated bacteria like Strep pneumo and Neisseria meningitidis
Selective IgA deficiency: recurrent sinopulmonary infections, atopy, anaphylactic reactions during blood transfusion
associated with celiac dz (people with both will be negative for IgA anti-tissue transglutaminase and IgA anti-endomysial antibodies)
Primary ciliary dyskinesia: AR; absent or dysmotile cilia and poor mucociliary clearance
recurrent sinopulmonary infections, bronchiectasis
+/- situs inversus = Kartagener syndrome
Chediak-Higashi syndrome: AR; partial oculocutaneous albinism and recurrent cutaneous infections with Staph aureus and Strep pyogenes
Common variable immunodeficiency CVID - most common primary immunodeficiency in adults; abnormal b-cell differentiation results in deficiency of multiple immunoglobulin classes. Manifestations: recurrent resp and GI infections, autoimmune disease, chronic lung disease, GI disorders.
Tx: Ig replacement therapy
Hereditary Hemochromatosis
Clinical manifestations:
- hyperpigmented skin (bronze DM)
- arthralgia, arthropathy, chondrocalcinosis (suspect in pseudogout; hemochromatosis induced iron deposition in the synovial fluid promotes CPPD)
- elevated LFT’s, cirrhosis, inc risk for HCC
- restrictive or dilated cardiomyopathy and conduction abnormalities
Evaluation: serum iron studies
Confirm with genetic tests
Long term management: serial phlebotomy to deplete excess iron stores
Vibrio, yersinia, and listeria - love iron - ppl with hemachromatosis are susceptible to these infections
Pseudogout
Acute arthritis induced by the release of CPPD (calcium pyrophosphate dihydrate) crystals from sites of chondrocalcinosis (calcification of articular cartilage) into the joint space. Often occurs in the setting of recent surgery or other medical illness.
Patients dx’d with pseudogout should be evaluated for 2’ causes such as hyperparathyroidism, hypothyroidism, and hemochromatosis
Synovial fluid analysis: inflammatory effusion (15-30k wbc), rhomboid shaped, positively birefringent crystals
B12 deficiency / Pernicious anemia
Sx of B12 deficiency: macrocytic anemia, glossitis, neurologic changes including peripheral neuropathy
Pernicious anemia = autoimmune disorder where the body makes anti-intrinsic factor antibodies - leading cause of B12 deficiency esp in whites of northern European backround; associated with other autoimmune disease
Patients with pernicious anemia also develop a chronic atrophic gastritis which increases the risk of intestinal type gastric cancer and gastric carcinoid tumors by 2-3x
–> monitor for development of gastric cancer (periodic stool testing for presence of blood)
Esophageal varices
Patients with varices should receive primary prophylaxis to prevent bleeding - can be achieved either with endoscopic variceal ligation or nonselective beta blocker like propranolol or nadolol
TIPSS = used as salvage therapy in patients with refractory ascites or esophageal varices who have failed endoscopic or medical management
Hashimoto thyroiditis Subacute thyroiditis TSH-secreting pituitary adenoma RAIU high vs low Hyperthyroidism Graves Euthyroid sick syndrome Congenital hypothyroidism Follicular thyroid cancer Papillary thyroid cancer Medullary thyroid cancer Thyroid lymphoma Painless thyroiditis Hypothyroidism Struma ovarii
Hashimoto:
Autoimmune thyroid disease - antithyroid peroxidase antibodies and antithyroglobulin antibodies
Present with palpable goiter and clinical hypothyroidism
Occasionally will present with transient hyperthyroid phase but RAIU is usually increased
Can see Hurthle cells although not specific
High titers of anti-TPO are associated with inc risk of miscarriage
Subacute thyroiditis (de Quervain's thyroiditis): fever, neck pain, thyroid tenderness, elevated ESR/CRP; hyperthyroid sx fade in <8 weeks as thyroid gland becomes depleted of preformed hormone; RAIU is decreased, elevated ESR and CRP; likely postviral inflammatory process Tx: symptomatic - beta blockers, NSAIDs
Suppurative infection of the thyroid gland (infectious thyroiditis) - high grade fever, tender thyroid gland; may have abscess formations
TSH-secreting pituitary adenoma: elevated TSH, free T4, normal or increased RAIU
High RAIU = suggestive of de novo hormone synthesis - can be seen in Graves disease (diffuse uptake) or toic nodular disease (nodular uptake)
Low RAIU = suggestive of either release of preformed thyroid hormone or exogenous thyroid hormone intake. Thyroglobulin level helps make the distinction - elevated = endogenous thyroid hormone release; decreased = exogenous or factitious thyrotoxicosis
Hyperthyroidism:
excess thyroid hormone increases osteoclast activity –> rapid bone loss and osteoporosis
can see muscle weakness and atrophy
In pts with significant sx and thyroid hormone levels >2-3x normal, an anti thyroid drug with beta blocker is initially recommended to stabilize the pt before definitive tx with RAI or thyroidectomy
Graves:
diffuse goiter, ophthalmopathy, nail clubbing (bulbous fingertip enlargement), onycholysis
Euthyroid sick syndrome:
in the setting of acute, severe illness
Low T3, normal T4 and TSH
Due to lack of peripheral conversion due to low calorie, glucocorticoid use, etc
Congenital hypothyroidism:
Most common cause = thyroid dysgenesis
Follicular thyroid cancer - 2nd most common thyroid epithelial malignancy after papillary cancer
peak incidence 40-60. Presents as firm thyroid nodule (cold nodule). Characterized by invasion of the tumor capsule and/or blood vessels –> can spread hematogenously to distant tissues; lymph node involvement not common; can see Hurthle cells (large polygonal cells with eosinophilic cytoplasm containing large quantities of mitochondria) but not specific finding
Papillary thyroid cancer - slow spread into local tissues and regional lymph nodes; associated with psammoma bodies
Medullary thyroid cancer: calcitonin-producing tumor of the thyroid parafollicular C cells; often occurs as a component of MEN2A and MEN2B, which are also associated with pheochromocytoma. Patients with MTC should be screened for pheochromocytoma prior to thyroidectomy with a plasma fractionated metanephrine assay
Thyroid lymphoma - uncommon but incidence is 60x greater in patients with preexisting Hashimoto thyroiditis
Typical presentation = rapidly enlarging, firm goiter associated with compressive sx (dysphagia, hoarseness), may have B sx as well. Gland is usually fixed to the surrounding structures and does not move up when swallowing. Retrosternal extension of the tumor is common and can result in venous compression with distended neck veins and facial plethora.
+ pemberton sign - raising the arms causes compression of the subclavian and R IJ vein between the clavicles and enlarged thyroid leading to more prominent venous distension and facial redness
Painless thyroiditis = variant of Hashimoto thyroiditis. + TPO antibody. Hyperthyroidism + low RAIU and nontender goiter. Characterized by self-limited hyperthyroid phase due to release of preformed thyroid hormone, followed by hypothyroid phase or return to euthyroid state. Does not require specific therapy but beta blocker can be prescribed to control sx
Hypothyroidism:
pts have an inc requirement for levothyroxine after starting oral estrogen (replacement therapy or OCP’s) or in pregnancy - E decreases clearance of TBG, leading to elevated TBG levels –> higher dose of synthroid is needed to bind them
Hypothyroidism causes additional metabolic abnormalities like hyperlipidemia, hyponatremia, and asymptomatic elevations of CK and transaminases.
severe cases can cause paranoia and hallucinations “myxedema madness”
Struma ovarii: very rare cause of thyrotoxicosis; due to production of thyroid hormone by an ovarian teratoma. Suspect in women over age 40 with a pelvic mass, ascites, or abd pain. Thyroid gland is not enlarged
Acute pancreatitis
Chronic pancreatitis
Dx: 2 of the following - acute onset severe epigastric pain radiating to back, inc amylase or lipase >3x upper limit of normal, characteristic abdominal imaging findings (focal or diffuse pancreatic enlargement)
Severe pancreatitis causes local release of activated pancreatic enzymes that enter the vascular system and increase vascular permeability within and around the pancreas –> large amts of volume migrate from vascular system to the surrounding retroperitoneum
Systemic inflammation due to inflammatory mediators enter the vascular system
NET EFFECT = widespread vasodilation, capillary leak, shock, and associated end organ damage
Tx: several liters of IVF
Chronic pancreatitis: recurrent bouts of upper abd pain, diarrhea/steatorrhea, and weight loss
Dx: presence of pancreatic calcifications on CT or plain film
Germ/sex cell tumors: Leydig cell tumor Choriocarcinoma Teratoma Seminoma Yolk sac tumor (endodermal sinus tumor) Theca lutein cyst Granulosa cell tumor Dysgerminoma Serous cystadenomas
Leydig cell tumor:
most common type of testicular sex cord stromal tumor, may occur in all age groups; Leydig cells = principal source of testosterone and are capable of estrogen production. Sx: precocious puberty, gynecomastia
Choriocarcinoma:
gestational trophoblastic neoplasia - malignancy that arises from placental trophoblastic tissue and secretes b-hCG. Can occur after a hydatidiform mole, normal gestation, or spontaneous abortion. Typically presents <6 months after a pregnancy.
Sx: irregular vaginal bleeding, enlarged uterus, pelvic pain
Most common metastatic spread is to the lungs (chest pain, hemoptysis, dyspnea)
Dx: elevated b-hCG
Tx: chemo
Mature cystic Teratoma (dermoid ovarian cyst):
AFP and b-HCG can be elevated, US findings include hyperechoic nodules and calcifications in dermoid cysts
Seminoma:
serum tumor markers usually normal, may see elevated b-HCG
Nonseminoma:
elevated AFP, with a considerable number also having an elevated b-hCG
Yolk sac tumor/endodermal sinus tumor:
germ cell tumor, elevated AFP
Theca lutein cyst: present during pregnancy; due to ovarian stimulation by high b-hCG levels and resolve after these levels decline; causes hyperandrogenism in pregnancy; US: multiseptated b/l cystic masses and do not have calcifications or hyperechoic nodules
Luteoma: yellow or yellow-brown masses of large lutein cells that cause hyperandrogenism in pregnancy; see solid ovarian masses on US; regress spontaneously after delivery; high risk of fetal fetal virilization
Krukenberg tumor: b/l solid ovarian masses on US; mets from primary GI tract cancer; causes hyperandrogenism in pregnancy; high risk of fetal virilizationb
Granulosa cell tumor: malignant ovarian neoplasms that secrete estrogen; causes precocious puberty in children and endometrial hyperplasia/bleeding in postmenopausal women
Dysgerminoma: ovarian tumor most commonly occurs in women age <30, secretes LDH or b-hCG
Serous cystadenoma: most common benign ovarian neoplasms; hormonally inactive; does not cause precocious puberty
Effusions / Lights criteria
Transudates: due to imbalance between hydrostatic and oncotic pressures that increases fluid movement across the capillaries into the visceral pleura and pleural space
- -> treat the underlying dz
- lab values: low protein (<3 g/dL), normal glucose and pH of 7.4-7.55
Exudates: due to pleural and lung inflammation resulting in increased capillary and pleural membrane permeability
Lights criteria define an exudate as having at least 1 of the following:
- pleural fluid protein/serum protein ratio > 0.5
- pleural fluid LDH/serum LDH ratio > 0.6
- pleural fluid LDH > 2/3 of the upper limit of normal for serum LDH
Bacteria pneumonias cause pleural effusions (exudates). Usually they are small, sterile, free-flowing, and resolve with antibiotics if they are uncomplicated. But if they are complicated (bacteria persistently invade the pleural space) or an empyema develops, patients have continued sx (fever, pleuritic pain) despite antibiotics and CXR shows loculation (walled-off pleural fluid). Thoracentesis of empyema shows exudate characterized by low glucose (<60), low pH (<7.2), high protein, and neutrophilic leukocytosis
Empyema vs complicated parapneumonic effusion: presence of gross pus or bacteria on gram stain in empyema
Chylothorax: exudative; leakage of chyle into the thoracic space, often from obstruction of the thoracic duct. Can cause a lymphocytic predominant effusion with turbid or milky white fluid; pleural fluid analysis demonstrates milky-white fluid with lymphocyte predominance and increased triglycerides. Chyle is composed of T cell lymphocytes, Ig, and lipid-transporting chylomicrons that contain triglycerides
TB effusion: exudative; very high protein levels >4, lymphocytic leukocytosis, low glucose, markedly elevated LDH >500; +ADA
Malignant effusion: exudative; low pH (<7.2), low glucose (<60), very high LDH
most common causes are breast cancer and lung cancer
–
Normal pleural pH = 7.6
—
Hepatic hydrothorax: transudative pleural effusions due to small defects in the diaphragm which permit peritoneal fluid to pass into the pleural space
Tx: salt restriction and diuretic administration
Definitive tx: liver transplant
high amylase in pleural fluid = either from esophageal perforation or from pancreatitis
–
hemothorax = potential complication of a thoracentesis; suspect in any pt who develops rapid reaccumulation of pleural effusion, difficulty breathing, and hemodynamic instability shortly after the thoracentesis is performed
Aortic injury
Widened mediastinum, large left-sided hemothorax, deviation of the mediastinum to the R and disruption of normal aortic contour
Dx: CT scan
Management: antihypertensive therapy and immediate operative repair
Hereditary cancer syndromes: Lynch FAP vHL MEN 1 MEN 2 BRCA 1/2
Lynch: CRC, endometrial, ovarian
FAP: CRC, desmoids/osteomas, brain
vHL: hemangioblastomas, clear cell renal carcinoma, pheochromocytoma
MEN 1: parathyroid, pituitary, pancreatic
MEN 2a: pheochromocytoma, parathyroid hyperplasia, medullary thyroid cancer
MEN 2b: pheochromocytoma, medullary thyroid cancer, marfanoid habitus/mucosal neuroma
BRCA1/2: breast, ovarian
Vasculitidies: Wegener Churg-Strauss HSP Takayasu Buerger Polyarteritis nodosa
Granulomatosis with polyangiitis (wegener granulomatosis):
- necrotizing/granulomatous vasculitis of small and medium sized vessels
+ c-ANCA
- Upper resp tract = most common site of disease (chronic rhinosinusitis)
- Lower resp tract may lead to tracheal narrowing with ulceration
- CXR: multiple lung nodules with cavitation
- Renal involvement: glomerulonephritis
- Cutaneous manifestations including purpura with ulceration, urticaria, livedo reticularis, pyoderma gangrenosum
Henoch-Schonlein purpura:
- IgA mediated leukocytoclastic vasculitis
- Palpable purpura, arthritis/arthralgia, abd pain, renal dz, SCROTAL PAIN
- Lab findings: hematuria +/- RBC casts +/- proteinuria; normal platelet count
- Tx: supportive
Churg-Strauss syndrome / eosinophilic granulomatosis with polyangiitis:
- chronic rhinosinusitis, nasal polyps, asthma
- prominent eosinophilia
Takayasu arteritis: large artery granulomatous vasculitis common in young Asian women. Primarily involves the aorta and its branches; characterized by mononuclear infiltrates and granulomatous inflammation of the vascular media, leading to arterial wall thickening with aneurysmal dilation or narrowing and occlusion. Initial symptoms include fever, arthralgias, and weight loss –> later features present with arterio-occlusive manifestations (claudication, distal ulcers) particularly in the upper extremities –> BP discrepancies, pulse deficits, bruits. CT and MRI reveal aneurysm formation or lumenal narrowing. Tx include systemic glucocorticoids
Buerger disease (thromboangiitis obliterans) - men who are heavy smokers –> superficial thrombophlebitis and ischemia and gangrene of the digits
Polyarteritis nodosa - skin lesions and myalgias; necrotizing vasculitis
Hereditary spherocytosis
- AD
- hemolytic anemia, jaundice, splenomegaly
- lab findings: elevated MCHC and RDW, spherocytes (small hyperchromic red cells without central pallor) on peripheral smear, neg Coombs test, inc osmotic fragility on acidified glycerol lysis test, abnormal eosin-5-maleimide binding test
- tx: folate supplementation, blood transfusions, splenectomy
- complications: pigment gallstones –> cholecystitis, aplastic crises from parvovirus B19
- splenectomy: most feared long-term complication: overwhelming sepsis with encapsulated bacteria, namely Strep pneumo - risk is present up to 30 years and longer –> anti-pneumococcal, Haemophilus, and meningococcal vaccines several weeks before operation, and daily oral penicillin ppx for 3-5 years following splenectomy or until adulthood
- encapsulated pathogens are largely eliminated via the humoral immune response with antibody-mediated phagocytosis (opsonization) and antibody-mediated complement activation - much of this is dependent on splenic macrophages and the generation of splenic opsonizing antibodies
- -> ppl with asplenia are at high risk for fulminant infection with encapsulated organisms
Paroxysmal nocturnal hemoglobinuria
- dx: genetic defect in RBC CD55 and CD59 surface proteins which normally inhibit activation of complement on RBC –> absence allows complement membrane attack complex to form and cause hemolysis
- hemolytic anemia (elevated bilirubin and LDH), cytopenias, hypercoagulability
- dx: flow cytometry to assess absence of CD55 and CD59 on RBC surface
- tx: iron and folate supplementation. Eculizumab (monoclonal antibody that inibits complement activation)
Celiac disease vs pancreatic insufficiency
D-xylose = monosaccharide that can be absorbe din the proximal small intestine without degradation by pancreatic or brush border enzymes
Celiac disease: ingestion of D-xylose –> urinary and venous D-xylose levels will be low since it is not absorbed and secreted into the urine
Malabsorption from enzyme deficiencies: normal absorption of D-xylose
Precocious puberty
Premature adrenarche
If low LH –> Gonadotropin independent (peripheral) or Gonadotropin dependent (central)?
Measure LH before and after GnRH stimulation test
If LH still low –> peripheral precocious puberty
If LH high –> central precocious puberty –> MRI brain
Tx for central precocious puberty = GnRH agonist therapy to prevent premature epiphyseal plate fusion and maximize adult height potential
–
Premature adrenarche: early activation of adrenal androgen release from the adrenal glands –> pubarche, axillary hair, acne, and body odor in girls <8 and boys <9
Generally a benign condition but a significant RF for PCOS, type 2 DM, and metabolic syndrome esp in those who are obese
Classic vs nonclassic CAH
Classic: presents in neonatal period with adrenal insufficiency and/or ambiguous genitalia
Non-classic/late-onset: manifests in late childhood with signs of androgen excess; normal electrolytes
Serous otitis media
- most common middle ear pathology in patients with AIDs
- due to auditory tube dysfunction arising from HIV lymphadenopathy or obstructing lymphomas
- presence of middle ear effusion without evidence of an acute infection
- sx: conductive hearing loss, tinnitus, sensation of pressure
- exam: dull tympanic membrane that is hypomobile on pneumatic otoscopy
PCOS vs testosterone secreting tumor
Elevated estrogen
Normal FSH
Elevated LH
Elevated GnRH
Inc in testosterone –> inc in peripheral conversion to estrogen
–> Persistently elevated (not pulsatile) GnRH –> preference for LH instead of FSH (to make testosterone)
Tx: weight loss = first line; decreases peripheral estrogen conversion
Clomiphene citrate - SERM that blocks E receptors at the hypothalamus and inhibits negative feedback mechanism –> pulsatile GnRH secretion –> normalize LH and FSH levels, creating an LH surge resulting in ovulation induction
OCP’s - menstrual regulation
—
Hirsutism in PCOS is typically chronic and slowly progressive
Testosterone secreting tumors have rapid onset hirsutism –> must check both testosterone levels and DHEAS levels
Elevated testosterone with normal DHEAS –> ovarian source of neoplasm (more common)
Elevated DHEAS –> adrenal source of neoplasm
Acute mediastinitis
Complication of cardiac surgery - usually due to intraoperative wound contamination
fever, cp, leukocytosis
CXR: widened mediastinum
Tx: drainage, surgical debridement with immediate closure, prolonged antibiotic therapy
Atopic dermatitis vs Seborrheic dermatitis
Atopic: recurrent rash; severely pruritic; family or personal history of atopic disorders like asthma and allergic rhinitis
Seborrheic: erythematous plaques with yellow greasy scales; spontaneous remission is common; 1st line tx options include emollients and nonmedicated shampoos
Nephrolithiasis
Most common renal stones are calcium stones
Inc Na intake enhances Ca excretion –> hypercalciuria
Dec Na intake promotes Na and Ca reabsorption –> patients with recurrent renal calculi should be advised to restrict Na intake
Dietary recc for patients with renal calculi:
- inc fluid intake
- dec sodium intake
- normal dietary calcium intake
- thiazide/amiloride diuretics - volume depletion caused by thiazides leads to a compensatory rise in reabsorption of Na and water –> inc passive reabsorption of calcium
Uric acid stones: most commonly seen in patients with low urine pH and hyperuricosuria; radiolucent but may be seen on US or CT scan
Tx: hydration, alkalinization of urine with oral potassium citrate, low-purine diet
–
Stones measuring less than 5mm in diameter typically pass spontaneously with conservative management, including a fluid intake of greater than 2L daily
Pulmonary HTN
Mean pulmonary arterial pressure of 25+ mmHg at rest (normal <20 mmHg)
Can be idiopathic or 2’ to L heart dz, chronic lung dz, or chronic thromboembolism
ARDS
Mechanical ventilation improves oxygenation by providing an inc FiO2 and PEEP to prevent alveolar collapse
Goal is to maintain PaO2 at 55-80 mmHg, which roughly corresponds to O2 sat >88%
Prolonged high FiO2 can cause O2 toxicity so FiO2 levels <60% are generally considered safe
Dx: new resp distress within 1 week of clinical insult, b/l lung opacities on imaging, pulmonary edema not explained by heart failure, hypoxemia with PaO2/FiO2 ratio <300mmHg
Indications for renal and bladder US in children
- infants and children under 2 years with first febrile UTI
- recurrent febrile UTI’s in children of any age
- UTI in a child of any age w FH of renal or urologic dz, HTN, poor growth
- children who don’t respond to appropriate antibiotic tx
Laryngomalacia
Increased laxity of supraglottic structures
Presentation: inspiratory stridor that worsens when supine and when feeding/URI’s, peaks at age 4-8 months
Dx: clinical; confirm with flexible laryngoscopy for moderate/severe cases - omega-shaped epiglottis and collapse of supraglottic structures during inspiration
Management: reassurance; supraglottoplasty for severe sx
Ankylosing spondylitis
Chronic progressive back pain and stiffness; pain relief with activity; enthesitis, dactylitis, anterior uveitis *most common extraarticular manifestation of AS; limited chest expansion –> restrictive PFT’s
Plain x-rays of pelvis showing sacroiliitis confirm diagnosis; can also see fusion of vertebral bodies with ossification of intervertebral discs (bamboo spine)
HLA-B27 is NOT specific for ankylosing spondylitis (whereas >90% of patients with AS have HLA-B27, only 5% of patients with HLA-B27 have AS)
Complications: vertebral fractures, osteoporosis, aortic regurgitation, cauda equina syndrome
Renal pathology:
Alport’s syndrome
Alport’s syndrome: familial disorder that presents in childhood with gross hematuria and proteinuria and sensorineural deafness.
EM findings: alternating areas of thinned and thickened capillary loops with splitting of the glomerular basement membrane
Lateral epicondylitis
Tennis elbow
Due to noninflammatory angiofibroblastic tendinosis at the common extensor origin; caused by repetitive, forceful extension at the wrist.
Exam: tenderness at the lateral epicondyle and reproduction of pain with passive flexion or resisted extension at the wrist
Leukemoid reaction vs CML
CML = myeloproliferative neoplasm caused by the BCR-ABL fusion gene –> dramatic leukocytosis (>100k), absolute basophilia, preponderance of early immature neurotrophil precursors; presents with fatigue, weight loss, night sweats, abd fullness, thrombocytosis, anemia. LAP score = LOW (neutrophils are cytochemically and functionally abnormal)
Leukomoid reaction = leukocytic reaction to severe infection. Leukocyte count >50k, mature neutrophil precurosrs. LAP score = HIGH
LAP = leukocyte alkaline phosphatase.
Breast tumors: FIbroadenoma Inflammatory breast carcinoma Intraductal papilloma Infiltrating ductal carcinoma Mammary Paget disease (paget disease of the breast) Fibrocystic change
RF’s: hormone replacement therapy, nulliparity, inc age at first live birth, alcohol consumption, genetic mutation, white race, increasing age, early menarche or later menopause
Fibroadenoma: benign palpable breast mass most commonly found in young women, estrogen-sensitive, firm and mobile with regular borders and spherical shape
Intraductal papilloma: benign condition; unilateral bloody nipple discharge; no other sx or skin changes
SHould still workup with mammo/US to rule out carcinoma
Inflammatory breast carcinoma: rare but aggressive cancer, rapid onset edematous cutaneous thickening with peau d’orange appearance, breast is edematous, erythematous, and painful
Mammary Paget disease: suspect when a persistent, eczematous, and/or ulcerating rash is localized to the nipple and spreads to the areola. 85% of pts with Paget dz have an underlying breast cancer –> most common type is adenocarcinoma. –> mammo and biopsy
Fibrocystic change: multiple diffuse nodulocystic masses, cyclic premenstrual tenderness
Atlantoaxial instability in Down’s patients
Complete AV septal defect in Down’s patients
Atlantoaxial instability = malformation seen in 10-15% of pts with Down syndrome but only symptomatic in 1-2%
Due to excessive laxity in the posterior transverse ligament which causes increased mobility between the atlas (C1) and the axis (C2) –> sx progress over several weeks and result from compression of spinal cord
Sx: behavioral changes, torticollis, urinary incontinence, vertebrobasilar sx like dizziness vertigo and diplopia, UMN symptoms
Dx: lateral radiographs of the cervical spine in flexion, extension, and neutral position
Tx: surgical fusion of C1 and C2
Complete atrioventricular septal defect: most common congenital heart defect in patients with Down syndrome - due to failure of the endocardial cushions to merge –> VSD, ASD, and common AV valve due to poor mitral and tricuspid valve development
–> heart failure –> loud S2 due to pulmonary HTN, systolic ejection murmur from inc flow across the pulmonary valve from the left to right shunt across the ASD, holosystolic murmur of the VSD
ToF is also associated with Down syndrome
Primary polydipsia, Central DI, Nephrogenic DI
Primary polydipsia: low serum Na
Central DI (dec ADH release from pituitary): high serum Na (>150) - due to impaired thirst mechanism
Nephrogenic DI (ADH resistance in kidney): normal serum Na - intact thirst mechanism and adequate water intake
Felty syndrome
- RA
- Splenomegaly
- Neutropenia
Caplan syndrome
- RA
- Pneumoconiosis
- Lung nodules
Adverse effects of RA Medications: Methotrexate Anti-TNF Hydroxychloroquine Sulfasalazine Rituximab Gold salts
Methotrexate - hepatotoxicity, pulmonary toxicity, bone marrow suppression, stomatitis
Anti-TNF - reactivation of TB
Hydroxychloroquine - retinal toxicity
Sulfasalazine - rash, hemolysis in G6PD deficiency
Rituximab - infection
Gold salts - nephrotic syndrome
Jarisch-Herxheimer reaction
Seen primarily in patients with early syphilis tx’d with antibiotic meds
Rapid destruction of spirochetes –> acute febrile illness typically within 12 hrs of tx
Sx: HA, myalgias, rigors, sweating, hypotension, worsened syphilitic rash
Self limited, resolves spontaneously within 48 hrs
Hypertensive retinopathy
no acute vision loss
On fundoscope: focal spasm of arterioles, followed by progressive sclerosis and narrowing; may see arteriovenous nicking, copper or silver wiring, exudates, and/or hemorrhages
Placental abruption
Umbilical cord prolapse
Placenta previa
Retroplacental bleeding - between the placenta and uterine decidua
–> can cause placental detachment and vaginal bleeding
- the larger the area of placental detachment, the greater the risk for maternal complications such as DIC and hypovolemic shock
Potential fetal complications include: hypoxia and preterm delivery
Umbilical cord prolapse: occurs after ROM, can cause abrupt onset of persistent fetal variable decels or severe bradycardia
On exam, the umbilical cord can be palpated below the cervix in the vagina
Placenta previa = contraindication to labor and vaginal delivery. Undergo CS at 36-37 weeks.
Cyanotic congenital heart diseases: ToF (tetralogy of fallot) Transposition of the great vessels Tricuspid atresia Truncus arteriosus Total anomalous pulmonary venous return with obstruction
ToF can increase the risk for hematogenous spread of infection into the brain from ex) sinusitis
The R to L shunt of venous blood in the heart (through a VSD) bypasses the pulmonary circulation, where bacteria in the bloodstream are typically filtered and removed by phagocytosis
Exam: harsh pulmonic stenosis murmur, VSD murmur
CXR: boot-shaped heart (RV hypertrophy)
Tet spell: things like exertion, feeding, and agitation can increase PVR, resulting in complete RVOT obstruction –> diversion of blood from the RV into the aorta instead of the pulmonary artery results in acute hypoxemia and cyanosis
Transposition of the great vessels: most common congenital cyanotic heart disease in the neonatal period. single S2 (aorta is anterior to pulmonary artery), +/- VSD murmur. CXR: egg on a string heart (narrow mediastinum)
After delivery, mixing of deoxygenated and oxygenated blood is necessary for survival thru PDA or VSD or PFO (does not cause a murmur)
If suspected, prostaglandins should be initiated to keep the ductus arteriosus open –> echo
Tricuspid atresia: single S2, VSD murmur. CXR: minimal pulmonary blood flow
Truncus arteriosus: single S2, systolic ejection murmur. CXR: increased pulmonary blood flow, edema
TAPVR: severe cyanosis, respiratory distress. CXR: pulmonary edema, “snowman” sign (enlarged supracardiac veins and SVC)
Serum sickness-like reaction
type III hypersensitivity
occurs 1-2 weeks after administration of beta lactams or TMP-SMX
Manifestations: fever, urticara, polyarthralgia
Lab findings characteristic of typical type III hypersensitivity: nonspecific hypocomplementemia, elevated inflammatory markers
Removal of the offending agent is generally sufficient to relieve sx; more severe cases may require glucocorticoid therapy
CF
Cystis fibrosis
defective chloride transport –> viscous secretions in the lungs, sinuses, and pancreas
–> growth failure, recurrent sinopulmonary infections, pancreatic insufficiency (inability to absorb fats and fat soluble vitamins ADEK leading to steatorrhea, failure to thrive, and vitamin deficiencies)
Vitamin K deficiency causes prolonged prothrombin time with easy mucosal bleeding and bruising
Infectious etiology:
infants and young children: MCC = Staph aureus
Adults: MCC = Pseudomonas
SVC syndome
obstruction of SVC impedes venous return from the head, neck, and arms to the heart
Sx: dyspnea, venous congestion, swelling of the head neck and arms, headache that is worse when leaning forward, facial swelling, JVP engorgement without peripheral edema
Malignancy = most common cause of obstruction
CXR to identify cause
Tx: radiation therapy as a palliative measure
PBC
Primary biliary cholangitis
cholestasis with autoimmune destruction of intrahepatic bile ducts (RUQ shows no biliary tract dilation)
pruritus, fatigue, jaundice, hepatomegaly, cirrhosis, hyperlipidemia –> cutaneous xanthomas and xanthelasmas
+ antimitochondrial antibody
elevated alk phos, normal hepatic enzymes, normal RUQ US
Complications: malabsorption with associated nutrient deficiencies, metabolic bone disease (osteoporosis, osteomalacia), HCC
Tx: ursodeoxycholic acid, liver transplant
Thyroid hormone production in pregnancy
thyroid hormone production increases during pregnancy
- estrogen stimulates synthesis of tyroxine binding globulin TBG and decreases TBG clearance –> inc pool of bound thyroid hormone –> patients subsequently increase thyroid hormone production to maintain free hormone levels
- hCG which shares a similar structure to TSH subunits directly stimulates TSH receptors –> increased hormone production with feedback suppression of pituitary TSH release
Study designs
Cohort: observational study in which groups are chosen based upon presence or absence of one or more risk factors –> subjects are studied over time for development of the disease of interest, allowing estimation of incidence within the total population and comparison of incidences between groups. –> allows for calculation of relative risk
Case series: study involving only patients already diagnosed with a condition of interest - helpful in determining the natural history of uncommon conditions
Case-control: subjects with dz of interest (cases) are compared to a similar group of disease-free subjects (controls). Info is then collected about exposure to risk factors –> retrospective
Clinical trial: compares the therapeutic benefit of diff interventions in patients already diagnosed with a particular dz
Cross-sectional: takes sample of individuals from a population at a given point in time. Allows determination of a disease’s prevalence.
Factorial design - involves 2+ experimental interventions, each with 2+ variables that are studied independently
Cluster analysis - grouping of different data points into similar categories –> randomization at the level of groups rather than at the level of individuals
Cross-over study: group of participants is randomized to 1 tx for a period of time and the other group is given an alternate tx for the same period of time. At the end of the time period the 2 groups then switch treatments for another set period of time
Amyloidosis
extracellular deposition of insoluble polymeric protein fibrils in tissues/organs
Can be primary (AL) or secondary (AA) to chronic inflammatory conditions like inflamma rthritis, chronic infections, ibd, malignancy, vasculitis
Manifestations: nephrotic syndrome, restrictive cardiomyopathy, hepatomegaly, peripheral neuropathy, visible organ enlargement like macroglossia, bleeding diathesis, waxy thickening/easy bruising of the skin
Dx: Tissue biopsy can confirm diagnosis by showing amyloid deposits (abd fat pad, bone marrow, rectum, kidney, endomyocardial)
nephrotic syndrome
Renal biopsy: amyloid deposits in the glomerular BM, blood vessels, and interstitium of the kidneys that stain with Congo red; demonstrate apple-green birefringence under polarized light; deposits can be visualized on electron microscopy as randomly arranged thin fibrils
Deposits may consist of light chains (AL amyloidosis) or abnormal proteins (AA amyloidosis)
AL amyloidosis: associated with multiple myeloma, waldenstrom macroglobulinemia; amyloid = light chains, usually lambda
AA amyloidosis: associated with chronic inflammatory conditions and infections (RA, IBD, osteomyelitis, TB); amyloid = abnormally folded proteins (beta-2 microglobulin, apolipoprotein, transthyretin)
Charcot joint
Neurogenic arthropathy due to DM
EBV (infectious mononucleosis)
- exudative pharyngitis
- TENDER cervical lymphadenopathy
- fatigue, rash
- splenomegaly
- acute airway obstruction = rare but potentially serious complication; sx: throat tightness, difficulty swallowing, severe tonsillar enlargement, difficulty swallowing, labored breathing. Tx: corticosteroids
Dx: positive heterophile antibody (monospot) test
Gonococcal pharyngitis
Disseminated gonococcal infection
- inoculation of the pharynx during orogenital contact
- pharyngeal edema NO exudate, NONTENDER cervical lymphadenopathy
Dx: PCR
+ fever, lower abd pain –> associated PID
Disseinated gonococcal infection: purulent monoarthritis and/or triad of tenosynovitis, dermatitis, asymmetric migratory polyarthralgias
Neonatal thyrotoxicosis
aka neonatal Graves dz
due to transplacental passage of anti-TSH receptor antibodies during the 3rd trimester
Elevated anti-TSH receptor antibody levels can occur despite maternal tx for Graves and euthyroidism or hypothyroidism during pregnancy
Sx: fetal tachycardia, hydrops, growth restriction, poor feeding, warm moist skin
Tx: methimazole + beta blocker; self resolves as maternal antibody disappears from infant circulation
OCP risks and benefits
Benefits: pregnancy prevention, endometrial and ovarian cancer risk reduction, menstrual regulation with reduction in IDA, reduction in risk of benign breast dz
Risks: VTE, HTN (due to increased angiotensinogen synthesis by estrogen during hepatic first-pass metabolism), hepatic adenoma (benign; well-demarcated, hyperechoic lesions; remove/watch for malignent transformation) , stroke and MI; slight increase in risk for cervical and breast cancer (risk returns to normal within 10 yrs of OCP discontinuance)
Aspirin exacerbated respiratory disease
A pseudoallergic rxn to NSAIDs (NOT IgE mediated but occurs in patients with comorbid asthma, chronic rhinosinusitis with nasal polyps, chronic urticaria)
presents with asthmatic symptoms and ocular symptoms and facial flushing with 30 min to 3 hrs after NSAID ingestion
Tx: avoidance of NSAIDs, desensitization if required, use of leukotriene receptor antagonists like montelukast
Osteonecrosis
Legg-Calve-Perthes disease
Transient synovitis
Common complication of long-term glucocorticoid use
–> bone and bone marrow infarction
Legg Calve perthes disease:
Idiopathic avascular necrosis of the femoral capital epiphysis
Most commonly affects boys 4-10
Can be managed conservatively with observation and bracing
See collapse of the ipsilateral femoral head on plain pelvic x rays
As dz progresses, internal rotation and abduction at the hip joint can become markedly limitedd
Transient synovitis = most common cause of hip pain in children, boys 3-10. Cause is unknown but usually follows a viral infection or mild trauma. Affected hip is typically flexed, slightly abducted, and externally rotated. Tx: rest and NSAIDs
Transfusion reactions Transfusion-related acute lung injury Febrile nonhemolytic reaction Acute hemolytic Delayed hemolytic
TRALI:
Respiratory distress within 6 hrs of transfusion
Signs of noncardiogenic pulmonary edema
CXR shows b/l interstitial infiltrates
Caused by donor anti-leukocyte antibodies
Febrile nonhemolytic reaction: fever and chills within 1-6 hrs of transfusion caused by cytokine accumulation during blood storage
Acute hemolytic: fever, flank pain, hemoglobinuria, renal failure, DIC within 1 hr of transfusion; positive direct Coombs test, caused by ABO incompatibility
Delayed hemolytic: mild fever and hemolytic anemia within 2-10 days after transfusion; positive direct Coombs, caused by anamnestic antibody response
Primary hyperaldosteronism (Conn)
Suspect in patient who gets weakness/leg cramps (hypokalemia) after initiation of a thiazide diuretic in uncontrollable HTN
Best screening test = early morning plasma aldosterone concentration to plasma renin activity ratio
Aldosterone:renin ratio >20 with plasma aldosterone > 15 suggests primary hyperaldosteronism and requires further confirmatory adrenal suppression testing
Adrenal suppression testing: salt loading and documenting inability to suppress serum aldosterone
if + –> CT to image adreals
Usually due to b/l adrenal hyperplasia or aldosterone-producing adrenal adenoma
If no discrete mass on CT scan –> adrenal vein sampling is recommended to differentiate between hyperplasia and adenoma
Hyperplasia –> medical management; adenoma –> surgery
Tx: spironolactone, eplerenone
spironolactone = progesterone and androgen receptor antagonist that can cause significant side effects whereas eplerenone = selective mineralocorticoid antagonist with very low affinity for p or a receptors
Antiphospholipid syndrome
Lupus anticoagulant prolongs PTT partial thromboplastin time - lab artifact
false positive RPR since syphilis antigen used in RPR contains cardiolipin
Aortic regurgitation
Mitral regurgitation
AR:
early decrescendo diastolic murmur, best heard along left sternal border at the 3rd and 4rth ICS while pt is sitting up, leaning forward, and holding a breath in full expiration (brings aortic valve closer)
congenital bicuspid aortic valve = most common cause of isolated AR in young adults
bounding pulse/water hammer pulse, quincke’s pinkies,
MR:
Mitral valve prolapse is the most common cause of chronic MR.
MVP occurs due to myxomatous degeneration of the mitral valve leaflets and chordae and causes a mid-systolic click followed by a mid-to-late systolic murmur. As the severity of leaflet dysfunction and MR worsens, the murmur becomes holosystolic and the click may not be audible.
Cardiomyopathies: Tachycardia-mediated cardiomyopathy Hypertrophic obstructive cardiomyopathy Alcoholic cardiomyopathy Dilated cardiomyopathy 2/2 viral myocarditis
Tachycardia-mediated cardiomyopathy:
any chronic tachyarrhythmia (afib, aflutter, v tach, etc) can cause structural changes in the heart including LV dilation and myocardial dysfunction
Tx: aggressive rate control or restoration of nsr; cardiomyopathy potentially reversible
HOCM: autosomal dominant genetic disorder - mutation on genes encoding myocardial contractile proteins
Harsh crescendo-decrescendo systolic murmur heard best at the apex and LLSB
Valsalva or abrupt standing decreases preload and increases the intensity of the murmur
Handgrip (inc afterload), squatting (inc after and preload), leg elevation (inc preload) that increases venous return and preload decreases the intensity of the murmur
MCC of sudden death in young people, NOT long QT syndromes
systolic anterior motion of the mitral valve
Alcoholic cardiomyopathy - a form of dilated cardiomyopathy
Cessation of drinking can reverse cardiomyopathy
Dilated cardiomyopathy 2/2 viral myocarditis: due to a number of viruses: parvovirus B19, HHV6, coxsackievirus, adenovirus, influenza virus, HIV - most commonly affects young adults <60 and presents with signs/sx of decompensated HF
DIagnostic gold standard: viral PCR in endomyocardial biopsy
Minimal change dz
Children age <10 with isolated nephrotic syndrome
Normal renal architecture
Electron microscopy shows diffuse effacement of foot processes of podocytes = confirmatory
Respond rapidly to corticosteroid therapy with complete remission
Pathogenesis: t cell mediated injury to podocytes causes inc molecular permeability to albumin
–
most common form of nephrotic syndrome in patients with Hodgkin lymphoma
also associated with NSAID use
Rapidly progressive glomerulonephritis Membranous glomerulonephritis Membranoproliferative glomerulonephritis Goodpasture's syndrome IgA nephropathy
Rapidly progressive glomerulonephritis:
Crescent formation in the glomeruli
Severe condition with rapid decline in renal function
Membranous glomerulonephritis:
thickened basement membrane and subepithelial spikes
associated with adenocarcinoma of the breast/lung, NSAID use, hep B esp in unvaccinated immigrant children, and SLE
Membranoproliferative glomerulonephritis: associated with hep B (less common than membranous) and C
mesangial hypercellularity; presents with nephritic syndrome rather than nephrotic syndrome
Characteristic microscopic finding: dense intramembranous deposits that stain for C3 - caused by IgG antibodies (C3 nephritic factor) directed against C3 convertase of the alternative complement pathway –> persistent complement activation and kidney damage
Goodpasture’s syndrome: IgG Anti-GBM antibodies; lungs (cough, dyspnea, hemoptysis) kidneys (nephritic range proteinuria, ARF, dysmorphic red cells/red cell casts on UA)m
IgA nephropathy: usually within 5 days (vs PSGN which begins 10-21 days after respiratory tract infection) of upper respiratory tract infection, more common in young adult men (age 20-30), recurrent gross hematuria ; normal complement levels, mesangial IgA deposits seen on kidney biopsy
PSGN: most cases follow strep skin infections like impetigo as opposed to pharyngitis
MAC infection
HIV, CD4<50
Sx: fever, cough, abd pain, diarrhea, night sweats, weight loss
+ splenomegaly, + elevated alk phos
Dx: bx cx
Tx: clarithromycin, azithromycin
Ppx: CD4<50 –> azithromycin
DIaphragmatic injury
L diaphragm is more prone to injury than the right due to congenital weakness in the diaphragm’s L posterolateral region and the liver’s protective effects on the R side
Some patients esp children with traumatic diaphragmatic injury may intiially have no sx or signs and can have a delayed presentation with expansion of the diaphragmatic defect and herniation of abd organs
Initial test: CXR
Confirmatory test: CT
Osteogenesis imperfecta
connective tissue disorder, AD
Varying spectrum: type 1 = mild, fatal = type 2, moderate types 3 and 4
Osteopenia, blue sclerae, recurrent fx, easy bruisability, hypotonia, hearing loss, dentinogenesis imperfecta (discolored dentin shining through the translucent and weak enamel)
Type 2: growth restriction, multiple limb fractures, hypoplastic thoracic cavity, shortened femur
Alpha-1 antitrypsin deficiency
Smoking-induced centriacinar emphysema most commonly causes dz in the upper lobes whereas panacinar emphysema of AAT deficiency classically results in greater destruction of the lower lobes
Smokers present in their 30’s, nonsmokers present in their 40’s
AAT deficiency is frequently associated with liver dz
Dx: serum AAT levels, PFT’s
Tx: IV supplementation with human AAT
Primary sclerosing cholangitis
PSC
inflammation, fibrosis, stricturing of intrahepatic and extrahepatic bile ducts
co-exist with UC
fatigue, pruritus
Labs: elevated alk phos with small transaminitis
Liver biopsy not necessary but classically shows intrahepatic ductular obliteration with lymphocytic infiltration and periductular onion skin fibrosis
Genetic Diseases: Friedreich ataxia Hereditary telangiectasia NF 1 and 2 Prader-Willi Angelman Klinefelter Fragile X Beckwith-Wiedemann Phenylketonuria Hereditary fructose intolerance Galactosemia Potter sequence McCune-Albright syndrome Sturge-Weber disease Peutz-Jeghers syndrome Riley-Day syndrome Tuberous sclerosis
Friedreich ataxia - AR excessive number of trinucleotide repeats GAA; ataxia; associated w/ necrosis and degen of cardiac muscle fibers leading to myocarditis, myocardial fibrosis, and cardiomyopathy; scoliosis, high arched foot (pes cavus)
Hereditary telangiectasia - AD: cutaneous AVM’s, recurrent epistaxis, telangiectasias
NF1 (von recklinghausen dz) - AD, chromosome 17; cafe au lait spots, multiple neurofibromas (peripheral nerve sheatbh tumors), freckles, lisch nodules. optic pathway glioma in 15% of patients under age 6 (usually asymptomatic but can cause dec visual acuity, proptosis, optic nerve atrophy)
NF2 (central neurofibromatosis) - AD, chromosome 22; b/l acoustic neuromas, cataracts
Prader-Willi: maternal uniparental disomy (inherit both copies of 15 from mom) –> poor suck, feeding problems, binge-eating, obesity
Angelman: paternal uniparental disomy (inherit both copies of 15 from dad) –> short stature, ID, smiling/laughter, hand-flapping, ataxia, seizures
Klinefelter: XXY; primary hypogonadism; small testes and tall stature; normal external genitalia and no apparent dysmorphic features
Fragile X: x-linked trinucleotide expansion CGG; ID, prominent forehead, macroorchidism
Beckwith-Wiedemann: dysregulation of imprinted gene expression in chromosome 11. Macroglossia, rapid growth, hemihyperplasia, umbilical hernia or omphalacele, transient hypoglycemia
Complications - Wilms tumor, hepatoblastoma - must be monitored closely with abd US
Surveillance - serum afp, abd/renal US
PKU: AR mutation in phenylalanine hydroxylase –> severe ID, seizures, musty body odor, hypopigmentation; Tx: dietary restriction of phenylalanine
Hereditary fructose intolerance: aldolase B deficiency; vomiting, poor feeding, lethargy, seizures, encephalopathy; when fruits and vegetables are introduced into the diet
Galactosemia: absence of galactose-1-phosphate uridyl transferase activity –> presents in the first few days after birth with jaundice, hepatomegaly, FTT after consumption of breast milk or regular infant formula, b/l cataracts, hypoglycemia, convulsions
Galactokinase deficiency: cataracts only; otherwise asymptomatic
Potter sequence: lethal fetal anomaly; presents with pulmonary hypoplasia, limb deformities (clubfoot, hipdislocation), oligohydramnios; most commonly due to urinary tract abnormalities (eg b/l renal agenesis, polycystic kidney dz)
Pathway: urinary tract anomaly (ex. posterior urethral valves) –> anuria/oliguria in utero –> oligohydramnios –> pulmonary hypoplasia, flat facies, limb deformities
McCune-Albright syndrome: precocious puberty, cafe au lait spots, multiple bone defects (polyostotic fibrous dysplasia). Defect in the G-protein cAMP-kinase function
Sturge-Weber disease: MR, seizures, visual impairment, port-wine stain over trigeminal nerve territory (congenital unilateral cavernous hemangioma); skull x-rays reveal gyriform intracranial calcifications that resemble a tramline
Peutz-Jeghers syndrome: GI tract polyposis, mucocutaneous pigmentation (melanotic spots on lips and skin); inc frequency of breast, gonadal, and pancreatic cancer; can develop an estrogen-secreting tumor, leading to precocious puberty
Riley-Day syndrome (familial dysautonomia): AR, seen predominantly in children of Ashkenazi jewish ancestry; due to gross dysfunction of the autonomic nervous system with severe orthostatic hypotension
Tuberous sclerosis: neurocutaneous genetic syndrome; associated with intracranial tumors (hamartomas, giant cell astrocytomas, subependymal nodules), hypopigmented macules (ash leaf spots), facial angiofibromas, cardiac rhabdomyomas, renal angioleiomyomas, MR, seizures
Hep C in pregnancy
usually patients with chronic hep C are asymptomatic
acute viral hepatitis can be life threatening though esp for patients with preexisting chronic viral hepatitis –> all patients with chronic HCV should be immunized against hep A and B if not already immune - both are inactivated vaccines and safe in pregnancy
Gestational DM
Target blood glucose:
fasting < 95
1 hr post prandial < 140
2 hr post prandial < 120
Tx:
1st line - dietary
2nd line - insulin > metformin, glyburide
Varicocele
Tortuous dilation of pampiniform plexus
More common on L side - L gonadal vein drains to L renal vein which passes between SMA and aorta –> vulnerable to compression beneath the SMA (nutcracker effect)
R gonadal vein drains directly into IVC so R sided varicoceles are relatively rare and can be a sign of malignant compression or thrombosis
Sickle cell disease/trait
Hyposthenuria/isosthenuria (impairment of kidney to concentrate urine) - associated w/ SCD and SCT
Results from RBC sickling to the vasa rectae of the inner medulla which impairs countercurrent exchange and free water reabsorption
SCT - most common renal issue is painless hematuria. hyposthenuria/isosthenuria also common.
SCD:
pts are more susceptible to infection with encapsulated organisms like strep pneumo h flu and n meningitidis. Vaccination with PCV13 (conjugated strep pneumo vaccine) decreases the incidence of invasive infections
Twice daily administration of prophylactic penicillin should also be given to children with SCD until they reach 5 years of age
- SCD = most common cause of pediatric stroke
Hydroxyurea - beneficial effect = increase HbF
Primary dose limiting side effect = myelosuppression (neutropenia, anemia, thrombocytopenia)
CCB therapy
Peripheral edema = common side effect - due to preferential dilation of precapillary vessels (arteriolar dilation) –> increased capillary hydrostatic pressure and fluid extravasation into the interstitium
Dihydropyridine CCBs like amlodipine and nifedipine are potent arteriolar dilators and cause more peripheral edema than non-dihydropyridine CCBs like verapamil and diltiazem
ACEi and ARBs cause post-capillary venodilation and can normalize the icnreased capillary hydrostatic pressure caused by CCB therapy –> combo of CCB and ACEi’s can significantly lower the risk of peripheral edema
Wilms tumor
Neuroblastoma
Wilms tumor: nephroblastoma
Proliferation of metanephric blastema
Presents with HTN, abd mass, fever, hematuria
Neuroblastoma: neural crest-derived adrenal medullary tumor, secretes catecholamines in excess; palpable abdominal mass, hepatomegaly, blue nodules; calcifications and hemorrhages are seen on plain x ray and CT
Torsades de pointes
a form of polymorphic ventricular tachycardia
Tx:
unstable patients –> immediate defibrillation
stable patients –> IV magnesium
Hydatid cyst from echinococcus granulosus
Amebic liver abscess from Entamoeba histolytica
Echinococcus granulosus:
Due to echinococcus granulosus (tapeworm) infection
Humans contract infection from dogs
Causes unilocular cystic lesions that can occur in any organ; smaller daughter cysts may be present
Usually diagnosed incidentally
CT scan shows eggshell calcification
Tx: surgical resection under albendazole
Entamoeba histolytica:
protozoan found in developing counties transmitted through contaminated food/water
Can be asymptomatic or cause colitis or liver abscess (single subcapsular cyst)
Dx: colitis - stool ova and parasites, stool antigen testing; liver abscess - E histolytica
Tx: metronidazole and intraluminal antibiotic like paromomycin
Renal artery stenosis
ACEi and arbs are initial therapy for pts with HTN and renal artery stenosis
Stenting and surgical revascularization is reserved for patients with resistant HTN or recurrent flash pulm edema and/or refractory heart failure due to severe HTN
DiGeorge syndrome
22q11.2 microdeletion syndrome –> T cell concentrations markedly low
characterized by thymic dysplasia, dysmorphic facies, hypocalcemia, cardiac defects (truncus arteriosus, transposition of the great arteries), and FTT in addition to recurrent infections
CATCH-22
once digeorge is suspected, get echo and calcium level right away
Meningitis
Bacterial, fungal, and TB meningitis: elevated protein, low glucose, elevated WBC counts
bacterial - neutrophilic pleocytosis
TB - lymphocytic pleocytosis
Viral: elevated WBC, normal RBC and glucose, protein levels normal to slightly elevated *exception: HSV which has high RBC (due to hemorrhagic destruction of the frontotemporal lobes) and protein levels
Guillain-barre: elevated protein, everything else normal
Tx: IVIG or plasmapheresis
after dx is suspected, must assess pulmonary function by serial spirometry; a decline in FVC indicates impending respiratory arrest (peak flow meter testing if spirometry is not available)
–
In children:
<3 months: GBS, E coli, listeria, hsv
3m-10yr: Strep pneumo, neisseria meningitidis
>11 yrs: neisseria meningitidis
–
Cryptococcal meningoencephalitis: CD4 < 100; due to inhalation of spores
dx:
CSF - high opening pressure, low glucose, high protein, lymphocytic pleocytosis + cryptococcal antigen testing, +India Ink stain or culture on Sabouraud agar
Neuroanatomy of the lower limbs
Femoral nerve - innervates muscles of the anterior compartment of the thigh, responsible for knee extension and hip flexion, provides sensation to the anterior thigh and medial leg
TIbial nerve - supplies muscles of the posterior compartment of the thigh, posterior compartment of the leg, and plantar muscles of the foot –> flexion of the knee and digits and plantar flexion of the foot, sensation to the leg minus the medial side and plantar foot
Obturator nerve - innervates the medial compartment of the thigh and controls adduction of the thigh, provides sensation over the medial thigh
Common peroneal nerve –> superficial and deep peroneal nerves –> supply the muscles of the anterior and lateral leg, provide sensation to the anterolateral leg and dorsum of the foot
TTP
HUS
TTP Classic pentad: thrombocytopenia, MAHA, renal insufficiency, neurologic changes, fever
HUS: thrombocytopenia, MAHA, renal insufficiency
Shiga toxin induces endovethelial damage in renal glomeruli, leading to platelet activation, microthrombi formation, and MAHA
Benzos
Elderly metabolize more slowly, likely to experience confusion and incr risk of falls
Another adverse effect = paradoxical agitation - inc agitation, confusion, aggression, and disinhibition typically within an hr of administration
PCP
PCP cannot be cultured; dx requires exam of respiratory samples using microscopy with specialized stains
induced sputum = least invasive method, if it does not work bronchoscopy with bronchoalveolar lavage is required
suspect in CXR with b/l diffuse interstitial infiltrates and elevated LDH
Corticosteroids are used in patients with impaired oxygenation (pulse ox < 92%, PaO2 < 70mmHg, A-a gradient >35 mmHg on RA)
Leukemias and lymphomas
CLL - predominant type in elderly; smudge cells; diagnosed by flow cytometry showing clonality of mature B cells; rituximab (monoclonal antibody against CD20 expressed on B lymphocytes)
ALL - predominant type in children 2-10 y/o. Lymphoblasts seen on peripheral smear. 25% lymphoblasts on bone marrow biopsy = confirmation. Lymphoblasts lack peroxidase positive granules but contain cytoplasmic aggregates of PAS periodic acid-Schiff material. +TdT (terminal deoxynucleotidyltransferase) expressed only by pre B and pre T lymphoblasts
Burkitt lymphoma - neoplasm of mature B cells. Associated with EBV. Present with mass in mandible or abdominal viscera. High mitotic index is typical. Histo: starry sky appearance. Aggressive but responds well to high dose chemotherapy
AML - Auer rods
CML - imatinib (BCR-ABL tyrosine kinase inhibitor)
Splenic abscess
Fever, leukocytosis, LUQ abd pain
Can also develop L sided pleuritic chest pain, L pleural effusion, and splenomegaly
RF’s: infection (endocarditis) with hematogenous spread, immunosuppression, IV drug use, trauma, hemoglobinopathy
Infective endocarditis is most commonly associated with splenic abscess
Hep C
Chronic infection is associated with many extrahepatic manifestations like fatigue, arthralgias, porphyria cutanea tarda
Porphyria cutanea tarda presents with fragile photosensitive skin that develops vesicles and bullae with trauma or sun exposure
Screening test: serology
Confirmation: 2 step process that requires both positive serologic test for HCV antibody and a confirmatory molecular test for the presence of circulating HCV RNA
Prenatal testing
1st trimester combined test: analyzes risk for trisomy 21 and 18 by measuring PAPP, b-hCG, and nuchal lucency; done at 9-13 weeks
[1st trimester US with crown-rump length measurement = most accurate method of determining GA. After 20w, fundal height can be measured in centimeters which correlates with the GA +/- 3w]
Cell free fetal DNA: >10 weeks; high sensitivity/specificity for aneuploidy
offer in all women 35+; can also identify fetal sex
abnormal results can be confirmed by CVS at 10-12 weeks or amniocentesis at 15-20 weeks
CVS: 10-13 weeks; definitive karyotypic diagnosis; invasive, risk of spontaneous abortion
2nd trimester quadruple screen: weeks 15-22; measures AFP, estriol, b-hCG, and inhibin A; screens for neural tube defects and aneuploidy; not indicated as follow-up to an abnormal first trimester screen
Trisomy 18: dec AFP, b-hCG, estriol. normal inhibin A
Trisomy 21: dec AFP, estriol. inc b-hCG, inhibin A
Neural tube or abd wall defect: inc AFP, normal b-hCG, estriol, inhibin A.
Amniocentesis: 15-20 weeks; definitive karyotypic diagnosis; invasive, risk of membrane rupture, fetal injury and pregnancy loss
2nd trimester US: 18-20 weeks; measures fetal growth, evaluates fetal anatomy, confirms placenta position
–
Initial prenatal visit: Rh(D) type, antibody screen, hgb/hmc/MCV, HIV, VDRL/RPR, HBsAg, rubella, varicella, Pap test if screening is indicated, chlamydia PCR, urine culture, urine protein. Gonorrhea screen is indicated only for HIGH RISK patients (age<25, new or multiple partners, history of STI’s)
Ascites fluid
neutrophils: <250 –> no peritonitis; >250 = peritonitis
Total protein: >2.5 –> high protein ascites (causes: CHF, constrictive pericarditis, TB, fungal)
<2.5 –> low protein ascites (Causes: cirrhosis, nephrotic syndrome)
SAAG (serum to ascites albumin gradient; differentiates between portal and non-portal hypertensive etiologies):
>1.1 = portal HTN (cardiac ascites, cirrhosis) –> inc capillary hydrostatic pressure
<1.1 = other causes (malignancy, pancreatitis, nephrotic syndrome, tb) –> inc capillary permeability
Whipple’s disease
Tropical Sprue
Infection with gram positive bacillus Tropheryma whippelii
Presentation: chronic malabsorptive diarrhea, protein-losing enteropathy, weight loss, ARTHRALGIA, lymphadenopathy, low grade fever
Dx: small intestinal biopsy and PCR
Small intestinal biopsy shows PAS periodic acid-Schiff positive macrophages in the lamina propria containing non-acid-fast gram-positive bacilli
Tropical Sprue - like celiac sprue but infectious etiology and responds to antibiotics
Paget disease of bone
Most patients are asymptomatic; can present with bone pain and deformity
Due to osteoclast dysfunction and increased bone turnover
Lab tests: elevated alk phos and bone turnover markers, calcium and phos usually normal
Imaging: x-ray shows osteolytic or mixed lytic/sclerotic lesions
bone scan shows focal increase in uptake
Tx: bisphosphonates
Acute cholangitis
Charcot triad: fever, jaundice, RUQ pain
Reynolds pentad: + hypotension, AMS
Cyanide poisoning
In the setting of fires (burning of rubber or plastic) or occupational exposure
Acute toxicity: HA, vertigo, dizziness, hyperventilation, tachycardia, n, v –> coma, seizures, bradycardia, hypotension, cardiorespiratory arrest, permanent neurologic deficits
* BITTER ALMOND BREATH = characteristic of inhaled cyanide
Skin has pinkish-red hue (like carbon monoxide poisoning but unlike methemoglobinemia which has blue hue)
Antidotes: hydroxocobalamin or sodium thiosulfate, which directly binds cyanide molecules; or nitrites which induce methemoglobinemia (Fe3+ binds cyanide)
Cyanide = potent inhibitor of cytochrome oxidase a3 in the mitochondrial ETC –> binds Fe3+ inhibiting its reduction to Fe2+ and blocks production of ATP from oxidative phosphorylation –> cells switch to anaerobic metabolism –> inc lactic acid formation (>10) and metabolic acidosis
–
Nitroprusside = vasodilatory with quick onset/offset of action, commonly used for rapid BP control in pts with hypertensive emergency
Metabolism of nitroprusside releases nitric oxide and cyanide ions
Cyanide toxicity can occur in patients receiving prolonged infusions or higher doses, most common with renal insufficiency
Acute liver failure
most common causes = drug tox and acute hep infection
Diagnostic requirements:
- severe acute liver injury (ALT and AST > 1000)
- Signs of hepatic encephalopathy (confusion, asterixis)
- synthetic liver dysfunction (prolonged PT with INR >1.5)
Extrapyramidal symptoms
EPS
Acute dystonia - tx: benztropine or diphenhydramine
Akathisia - tx: beta blocker or benztropine
Parkinsonism - tx: benztropine or amantadine
Tardive dyskinesia - tx: no definitive treatment (but clozapine may help)
Biostat tests
2 sample z test and t tests: compare 2 means
Chi-square: compares the proportions of a categorized outcome
ANOVA = compares the means of 3 or more variables
Genetic blood diseases: Fanconi's anemia Diamond-Blackfan anemia Transient erythroblastopenia of childhood G6PD deficiency
Fanconi’s anemia: AR; pancytopenia (aplastic anemia), congenital anomalies (hypopigmentation, cafe au lait spots, microcephaly, microphthalmia, short stature, horseshoe kidneys, absent thumbs); 4-12 y/o; thrombocytopenia, neutropenia, macrocytic anemia; due to chromosomal breaks; most common congenital cause of anemia
Diamond-Blackfan anemia: congenital pure red cell aplasia; presents in first 3 months of life with pallor and poor feeding and congenital anomalies (webbed neck, cleft lip, shield chest, triphalangeal thumbs, pale MM); normocytic or macrocytic anemia with reticulocytopenia; WBC and platelet counts normal; can see elevated fetal Hb levels on electrophoresis
Primary pathology: intrinsic defect of erythroid progenitor cells –> inc apoptosis
Tx: corticosteroids
Transient erythroblastopenia of childhood: acquired red cell aplasia which occurs in healthy children between 6m and 5 years; normocytic normochromic anemia with extremely low reticulocyte count; no congenital abnormalities
G6PD deficiency: X-linked recessive. AA men. Episodic hemolysis in response to oxidant drugs, infections, or fava beans. G6PD = enzyme involved in creating NADPH, a cofactor required to create glutathione and prevent the oxidation of hemoglobin. Without G6PD, hemoglobin becomes oxidized and denatures into Heinz bodies –> bite cells, which disrupts RBC membranes and cause hemolysis. Typically occurs in response to oxidant drugs and infection.
+ prussian blue stain which indicates hemosiderin; found in urine during hemolytic episodes
G6PD activity can be used as a screening test, but has reduced sensitivity during an acute hemolytic episode. since the erythrocytes with G6PD deficiency are hemolyzed early and reticulocytes which have normal G6PD levels are circulating at abnormally high levels. it is best to wait 3 months before retesting. Tx is supportive, with removal or management of the underlyin ginsult
Hypertensive nephropathy
Diabetic nephropathy
Hypertensive: renal vasculature is sensitive to damages incurred by systemic HTN –> as HTN progresses there is progressive decrease in renal blood flow and GFR –> nephrosclerosis (hypertrophy and intimal medial fibrosis of renal arterioles) to glomerulosclerosis (progressive loss of the glomerular capillary surface area with glomerular and peritubular fibrosis)
Diabetic: inc GFR –> GBM thickening, hypertrophy, and mesangial volume expansion with GFR returning to normal –> microalbuminuria
Histo: diffuse glomerulosclerosis and nodular glomerulosclerosis (pathognomonic) with Kimmelstiel-Wilson nodules
DM = leading cause of ESRD in the US
Beneficial effect of ACEI in slowing the progression - reduces urinary albumin excretion and the decline in creatinine clearance due to the reduction in BP as well as the direct effect on reducing intraglomerular pressure
Most effective intervention for slowing the progression of diabetic nephropathy is tight BP control <140/90; pts with diabetic nephropathy should be treated toward a target BP of 130/80
Intensive glycemic management (Hba1c <7) has been shown to reduce the occurrence and progression of microalbuminuria
Rickets
Vitamin D or calcium deficiency
RF’s: exclusive breastfeeding, increased skin pigmentation
Manifestations: craniotabes (ping pong ball skull), delayed fontanelle closure, enlarged skull (frontal bossing), enlarged costochondral joints (rachitic rosary), enlarged long bone joints, genu varum
X-ray findings: cupping and fraying oft he metaphyses of the long bones
Tx: infants who do not ingest fortified baby food or formula should receive vitamin D supplementation of 400IU daily
Angiodysplasia
painless GI bleeding of maroon colored stools (differentiates from diverticulosis which has bright red blood)
Dilated submucosal veins and AVM’s
most common in the R colon
More frequently diagnosed in pts with advanced renal dz and von willebrand dz
More common in pts with aortic stenosis
Dx: endoscope (upper GI, colonoscopy) - however can be missed on colonoscopy due to poor bowel prep or location behind a haustral fold
Asymptomatic pts don’t require tx
Pts with anemia or gross or occult bleeding can be treated endoscopically with cautery
Blastomyces
Coccidioidomycoses
Histoplasma
Blasto: fever, pneumonia, violaceous skin lesions with scrapings showing yeast, bone and prostate also involved; location: midwest, southern mississippi valley
Coccidioidomycosis: valley fever (CAP, arthralgias, erythema nodosum/multiforme), Southwest/California
Histo: Mississippi and Ohio River valleys; immunocompetent pts usually asymptomatic; immunocompromised pts present with disseminated dz with papular crusting skin lesions, fever, pulmonary, and reticuloendothelial (lymphadenopathy, hepatosplenomegaly) manifestations. Lab findings: pancytopenia, elevated aminotransferase and LDH levels. CXR: diffuse interstitial or reticulonodular infiltrates.
Dx: confirm with serum or urine Histoplasma antigen
Tx: amphotericin B then transition to oral itraconazole for maintenance therapy
Reye syndrome
Pediatric aspirin use during influenza or varicella infection
Clinical features: acute liver failure, encephalopathy
Lab findings: elevated transaminases, coagulopathy, hyperammonemia
Liver biopsy: microvesicular steatosis
Methemoglobinemia
Carbon Monoxide poisoning
methemoglobinemia: excessive exposure to an oxidizing agent Fe2+ –> Fe3+ decreased affinity for oxygen
Cyanosis and respiratory depression due to impaired oxygen delivery to the tissues
Skin and MM are cyanotic, have dark chocolate-colored blood, and have bluish discoloration *UNLIKE carbon monoxide and cyanide poisoning
Supplemental oxygen does not improve cyanosis, blood color, or pulse ox
ABG: analyzes unbound arterial oxygen (as opposed to hemoglobin-bound oxygen) –> PaO2 is normal and overestimates the degree of true oxygen saturation
Tx: methylene blue
Carbon monoxide poisoning:
headache, nausea, abdominal discomfort
skin has pinkish-red hue (like cyanide toxicity but unlike methemoglobinemia which has blue hue)
Cutaneous larva migrans
hookworm larvae
humans are incidental hosts
barefoot contact with contaminated sand or soil
intensely pruritic, migrating, serpiginous, reddish brown tracks
tx: antihelmintic (ivermectin)
Preterm delivery / short cervix
Strongest RF = previous preterm delivery
Other RF’s: multiple gestation, hx of cervical surgery (causes cervical scarring/stenosis and incompetence - TVUS measurement of cervical length = gold standard for evaluation of cervical incompetency)
Short cervix: <2cm without a hx of preterm birth or <2.5cm with history of preterm birth
TVUS during second trimester = strong predictor of preterm delivery
During pregnancy, progesterone maintains uterine quiescence and protects the amniotic membranes against premature rupture. Supplementation with exogenous progesterone decreases the rate of preterm delivery in pts with short cervices or a hx of preterm birth
Short cervix + no history of preterm delivery = vaginal progesterone
History of preterm delivery = IM progesterone starting in T2 and undergo serial TVUS
Cerclage may be indicated
Neonatology: Neonatal Respiratory Distress Anemia SGA Maternal estrogen effects Apgar scores Physiologic jaundice of the newborn Polycythemia NEC Maternal diabetes complications IVH Erythema toxicum neonatorum Anemia of prematurity
Healthy neonates normally lose up to 7% of their birth weight in the first 5 days of life due to excretion of excess fluid acquired in utero and during labor. Birth weight should be regained by age 10-14 days.
Weight triples and height doubles by age 1.
Appearance of pink stains or brick dust in neonatal diapers = uric acid crystals
Common causes of neonatal respiratory distress: TTN, respiratory distress syndrome, persistent pulmonary HTN
TTN - inadequate alveolar fluid clearance at birth –> mild pulmonary edema; tachypnea begins shortly after birth and resolves by day 2; CXR shows b/l perihilar linear streaking
Respiratory distress syndrome - surfactant deficiency –> alveolar collapse and diffuse atelectasis; severe resp distress and cyanosis after premature birth; CXR shows diffuse reticulogranular (ground glass appearance), air bronchograms, and low lung volumes
RF’s: prematurity, maternal diabetes (delays maturation of pulmonary surfactant production)
IUGR, maternal HTN, and chronic intrauterine stress from PROM decrease the risk of RDS because intrauterine stress is thought to stimulate early fetal lung maturity
Tx: postnatal surfactant, antenatal corticosteroids
Persistent pulmonary HTN - high pulmonary vascular resistance results in R to L shunting and hypoxia; tachypnea and severe cyanosis; CXR shows clear lungs with decreased pulmonary vascularity
Full term infants are born with adequate iron stores to prevent anemia for the first 4-6m of life regardless of dietary intake
Preterm infants are at significant inc risk for IDA. Iron supplementation should be started at birth in exclusively breastfed preterm infants and continued until age 1.
All exclusively breastfed infants should also be started on vitamin D supplementation
SGA infants have a weight under the 10th percentile for GA at birth and may have complications such as hypoxia, polycythemia, hypoglycemia, hypothermia, and hypocalcemia
Maternal estrogen effects in newborns:
breast hypertrophy in both boys and girls, swollen labia, physiologic leukorrhea (whitish vaginal discharge), uterine withdrawal bleeding
Apgar scores = quick measure of overall neonatal status and response to resuscitation NOT correlation with prognosis, measured at 1 and 5 minutes of life. Scores 7-9 require no intervention. <7 may require further evaluation and resuscitation.
–
Physiologic jaundice of the newborn: common, usually benign. - due to elevated RBC concentration and high hemoglobin turnover at birth, slow bilirubin clearance bc hepatic uridine diphosphogluconurate glucuronosyltransferase has not reached adult levels (Asian newborns have decreased UGT activity), increased enterohepatic recycling as sterile newborn gut cannot break down bilirubin to urobilinogen for fecal excretion
Newborns should be monitored for persistent or worsening jaundice as high levels can cause brain damage –> frequent feeding should be encouraged to promote gut colonization and fecal excretion
Rapidly rising hyperbilirubinemia requires phototherapy for kernicterus prevention
Exchange transfusion is indicated for T bili levels > 20-25 mg/dL
Polycythemia in neonates: hematocrit >65%. Common cause = delayed clamping of the umbilical cord, resulting in excess transfer of placental blood. Other predisposing conditions: in-utero hypoxia (maternal HTN, smoking) or poor placental gas exchange (ie maternal diabetes)
Can be asymptomatic and appear ruddy/plethoric. But as hematocrit rises, the viscosity of the blood increases and impairs blood flow to various organs. Most common sx: lethargy, irritability, and jitteriness. Other manifestations: respiratory distress, tachypnea, cyanosis, poor feeding, hypoglycemia, hypocalcemia
Asymptomatic neonates require only hydration
Symptomatic neonates require partial exchange transfusion, in which blood is removed in exchange for normal saline to normalize the hematocrit
NEC: associated with prematurity
pneumatosis intestinalis on upper GI series
IVH: intraventricular hemorrhage; from bleeding in the germinal matrix; occurs predominantly in premature and low birth weight infants; exposure to vascular perfusion injuries is also a RF; many cases are asymptomatic; presentation: pallor, cyanosis, hypotension, seizures, focal neurologic signs, bulging or tense fontanella, apnea, bradycardia
Transfontanel ultrasound is necessary for all newborns with predisposing RF’s
Communicating hydrocephalus (nonobstructive) is a complication in one third of cases; these patients are at greatest risk of death
Those who survive high grade IVH’s suffer from significant neurodevelopmental disability (cerebral palsy)
Prevention of preterm labor and antenatal administration of maternal corticosteroids are the only interventions that can reduce the incidence of IVH and improve overall mortality
dx: cranial doppler
tx: shunts/drains
erythema toxicum neonatorum - asymptomatic, scattered erythematous macules, papules, and pustules throughout the body; common in full term neonates; occurs in the first 2 weeks of life; no treatment, will resolve spontaneously
all vaccines should be administered according to chronologic rather than gestational age in preterm infants; exception: weight should be >2kg (4lb6oz) before first hep B vaccine
retinopathy of prematurity: caused by neoangiogenesis –> blindness, retinal detachment
dx: see on eye exam
tx: photoablation
f/u: glaucoma
NEC: premature; dead gut; presents with bloody bowel movement
x-ray shows pneumatosis intestinalis
tx: NPO, IV abx against gram neg, TPN
Physiologic RBC nadir in term infants: occurs at age 2-3 months; due to dec EPO due to inc oxygen concentration after birth –> dec reticulocyte production
Anemia of prematurity: low EPO levels are exacerbated by short RBC life span and frequent phlebotomy in the NICU –> early onset anemia
Stable angina
Beta blockers = first line therapy
Also CCB’s and nitrates
Thiazide adverse effects
Hyperglycemia (thiazides impair insulin release), increased LDL cholesterol, triglycerides, hyperuricemia, hyponatremia, hypokalemia, hypomagnesemia, hypercalcemia
Adverse effects occur more frequently with chlorthalidone than with other thiazides
Torus palatinus
Fleshy nontender immobile mass on the midline hard palate
No intervention required unless growth becomes symptomatic or interferes with speech or eating
Cancer-related anorexia/cachexia syndrome
hypercatabolic state associated with weight loss, anorexia, and an excessive reduction in skeletal muscle
Pharma intervention: progesterone analogues (megestrol acetate) or corticosteroids - increases appetite, causing weight gain, and improving well-being
Postpartum findings
PPH
Normal postpartum findings:
Shivering - thermal imbalance
Uterus contracts and becomes firm and globular
Lochia rubra; after 3-4d lochia serosa, after 2-3w lochia alba
Signs of postpartum hemorrhage:
boggy uterus, heavy vaginal bleeding, unstable vital signs
> 500mL after vaginal delivery, >1000mL after CS
Hemostasis after placental delivery is achieved by clotting and by compression of the placental site blood vessels by myometrial contraction - disruption of either of these processes can lead to PPH
most commonly caused by uterine atony - when the uterus becomes fatigued (as in prolonged labor), over-distended (fetal weight >4000g 8.8lb) or unresponsive to oxytocin from oxytocin receptor saturation
Other RF’s for atony include operative vaginal delivery and HTN disorders
Tx: bimanual uterine massage, oxytocin; uterotonics (methylergonovine, carboprost, misoprostol); embolization; hysterectomy
Juvenile idiopathic arthritis aka Juvenile RA
symmetric arthritis for at least 6 weeks
Lab findings: elevated inflammatory markers, hyperferritinemia, hypergammaglobulinemia, thrombocytosis, anemia (due to inflamm cytokines leading to inc production of hepcidin which inhibits iron absorption across the small intestine and iron release)
systemic-onset JIA presents with 2+ weeks of fever occurring once a day, arthritis of 1+ joints, and a pink macular rash that worsens during fever. Joint pain/stiffness classically is worse in the morning and improves throughout the day.
Spondylolisthesis
Developmental disorder characterized by forward slip of vertebrae (usually L5 over S1)
Results in chronic back pain and neuro dysfxn if significant
Palpable “step off” detected on exam
Head and neck cancer
Squamous cell carcinoma of the mucosa of the head and neck
Common in ppl with significant history of alc and tobacco use
1st manifestation usually a palpable cervical lymph node
Best initial test is panendoscopy (triple endoscopy - esophagoscopy, bronchoscopy, laryngoscopy)
Vitamin deficiencies
Homocysteine
Vitamin A deficiency - night blindness, photophobia, dry scaly skin, dry conjunctiva/cornea
Hypervitaminosis A - anorexia, pruritis, lack of weight gain, inc irritability, fissuring of the corners of the mouth
Riboflavin deficiency - due to anorexia, malabsorptive syndromes; sore throat, hyperemic oropharyngeal mucous memrbanes, cheilitis, stomatitis, glossitis
Pyridoxine deficiency (B6) - irritability, depression, dermatitis, stomatitis, elevated serum homocysteine (RF for venous thromboembolic dz and atherosclerosis)
Niacin deficiency (B3) - pellagra: diarrhea, dermatitis, dementia
Homocysteine: B6, folate, and B12 deficiency will all raise levels of homocysteine f
PPROM (preterm premature ROM)
<34 weeks or 34-37 weeks?
34+ weeks –> DELIVER; penicillin should be administered for patients who are GBS+ or unknown
<34 weeks + signs of infection or fetal compromise –> DELIVER + corticosteroids + penicillin
<34 weeks and no signs of infection/fetal compromise –> SURVEILLANCE; + corticosteroids + penicillin
Scabies
Chagas disease
Strongyloidiasis
Onchocerciasis
Scabies:
Dx: confirmed by light microscopy of skin scrapings
Tx: topical permethrin or oral ivermectin
Chagas disease: trypanosoma cruzi
Cardiomyopathy, megacolon/megaesophagus
Tx: Benznidazole
Strongyloidiasis:
Urticaria, abdominal pain, respiratory problems
Tx: ivermectin
Onchocerciasis: river blindness
ocular lesions, dermatitis
Tx: ivermectin
Milk-alkali syndrome
Due to excessive intake of calcium and absorbable alkali –> hypercalcemia, renal insufficiency, metabolic acidosis
Hypercalcemia causes renal vasoconstriction and decreased glomerular blood flow
Inhibition of Na-K-2Cl cotransporter (due to activation of calcium-sensing receptors in the thick ascending loop) and impaired ADH activity lead to loss of Na and free water –> hypovolemia and inc reabsorption of bicarb
Meds that raise the risk of milk alkali syndrome: thiazide, ACEi/arbs, NSAIDs
Sx: n, v, constipation, polyuria, polydipsia, neuropsych sx
Lab findings: hypercalcemia, metabolic alkalosis, AKI, suppressed PTH
Tx: discontinuation of causative agent, isotonic saline followed by furosemide
Prosthetic joint infection
Early onset (<3 months) - Staph aureus (due to infectious organism perioperatively)
Delayed onset (3-12 months) - Staph epi (due to less virulent organism perioperatively)
Late onset (>12 months) - Staph aureus, gram neg rods (usually due to hematogenous spread of distant infection)
CMV retinitis HSV retinitis HIV retinopathy Diabetic retinopathy Toxo chorioretinitis Syphilitic chorioretinitis Contact lens-associated keratitis Retinal detachment Trachoma
CMV retinitis: full-thickness retinal inflammation; fundoscopy shows yellow-white fluffy hemorrhagic lesions along the vasculature; sx: blurred vision, floaters, photopsia
HSV retinitis: b/l necrotizing retinitis with keratitis and conjunctivitis; funduscopy shows widespread pale peripheral lesions and central necrosis of the retina i
HIV retinopathy: cotton-wool retinal lesions, rarely hemorrhagic and tend to resolve over weeks to months
Diabetic retinopathy: microaneurysms, hemorrhages, exudates, retinal edema, cotton wool spots, newly formed vessels
Toxo chorioretinitis: eye pain, decreased vision; retinal lesions in nonvascular distribution
Syphilitic chorioretinitis: uveitis, diminished visual acuity
Contact lens-associated keratitis: painful, red eye and opacification and ulceration of the cornea, most cases due to gram neg organisms like pseudomonas and serratia
Retinal detachment: photopsia (flashes of light), floaters (spots in the visual field) “curtain coming down over my eye”; ophthalmoscopic exam reveals grey elevated retina
inciting event can occur months before retinal detachment. Myopia or trauma (cataract surgery) can cause retinal breaks, through which fluid seeps in and separates the retinal layers
tx: laser therapy and cryotherapy to create permanent adhesion
Trachoma: conjunctival injection, tarsal inflammation, pale follicles
leading cause of blindness worldwide
spreads effectively in crowded or unsanitary conditions
Follicular conjunctivitis and pannus (neovascularization) formation in the cornea; often concomitant nasopharyngeal infection
repeated or chronic infection leads to scarring of the eyelids and inversion of the eyelashes (trichiasis); the lashes rub on the eye and cause ulcerations and blindness
Muscular dystrophies
Myotonic muscular dystrophy:
- AD expansion of CTG trinucleotide
- Presentation: 12-30 onset. Facial weakness, hand grip myotonia, dysphagia
- Comorbidities: arrythmias, cataracts, balding, testicular atrophy/infertility
- Prognosis: death from respiratory or heart failure
Duchenne DMD:
- X-linked recessive deletion of dystrophin gene on chromosome X (no dystrophin)
- Presentation: 2-3 onset. progressive weakness, Gower maneuver, calf pseudohypertrophy
- Comorbidities: scoliosis cardiomyopathy
- Prognosis: wheelchair dependent by adolescence, death by age 20-30 from respiratory or heart failure
- Dx: screening - elevated serum CPK and aldolase (shows some kind of muscular dystrophy, not specific for DMD). Fibrosis and fatty infiltration on calf muscle biopsy support the diagnosis. Genetic studies = gold standard
Becker BMD:
- X-linked recessive deletion of dystrophin gene on chromosome X (reduced dystrophin)s
- Presentation: 5-15 onset. milder weakness compared to Duchenne
- Comorbidities: cardiomyopathy
- Prognosis: death by age 40-50 from heart failure
Trousseau’s syndrome
Aka migratory superficial thrombophlebitis
A hypercoagulable disorder that usually presents with unexplained superficial venous thrombosis at unusual sites (arm, chest area, etc). Usually diagnosed prior to or at the same time as an occult visceral malignancy.
Associated with cancer involving the pancreas (most common), lung, prostate, stomach, and colon, and acute leukemias.
Cerebral amyloid angiopathy
Amyloid angiopathy = MCC of spontaneous lobar hemorrhage, particularly in adults age > 60
Due to beta-amyloid deposition in the walls of small to medium size cerebral arteries, resulting in vessel wall weakening and predisposition to rupture
Affects occipital and parietal lobes most often
Zenker diverticulum
- usually age >60, males
- dysphagia, halitosis, regurgitation/aspiration, variable neck mass
- develops above the upper esophageal sphincter with posterior herniation between the fibers of the cricopharyngeal muscle. Upper esophageal sphincter dysfunction and esophageal dysmotility are believed to be the cause of Zenker
- dx: barium esophagram, esophageal manometry
- tx: open/endoscopic surgery, cricopharyngeal myotomy
Alcohol abuse = MCC of __ deficiency in the US
Folate –> megaloblastic anemia
Methamphetamine use
Associated with cardiomyopathy; can lead to decompensated heart failure
Intrauterine fetal demise
Fetal death > 20 weeks prior to expulsion from mom
Pts present with decreased/absent fetal movement
Inability to find FHR by doppler is not diagnostic; could be due to fetal malpresentation or maternal obesity
Must be confirmed by absence of fetal cardiac activity on US
induction of labor for vaginal delivery = best option; delivery can be delayed to allow time for parental acceptance but retention of the fetus for several weeks can lead to coagulopathy
Gastric ulcer
Duodenal ulcer
Jejunal ulcer
Gastric ulcer: pain worse after eating due to increased acid secretion
Duodenal ulcer: pain worse on empty stomach (unopposed gastric acid emptying into the duodenum), improves with food (due to alkaline fluid secretion into the duodenum)
Jejunal ulcer: suggestive of excess gastric acid that cannot be fully neutralized in the duodenum –> suspect gastrinoma/Zollinger-Ellison syndrome (associated with MEN1)
Dx: fasting serum gastrin level (off PPI therapy for 1 week): <110 rules it out, >1000 is diagnostic. 110-1000 is nondiagnostic and requires secretin-stimulation test
Secretin stimulates release of gastrin by gastrinoma cells. Normal gastric G cells are inhibited by secretin; therefore, secretin administration should not cause a rise in serum gastrin concentrations in patients with other causes of hypergastrinemia.
Bath salts
Amphetamine analogs
Cause severe agitation, combativeness, delirium, psychosis
In contrast to other stimulants and hallucinogens which have a much shorter duration of effect, the effects of bath salt intoxication may take several days to weeks to subside
Legionella
High grade fever, GI symptoms, neurologic symptoms
CXR shows interstitial infiltrates
Hyponatremia, hepatic dysfunction
Gram neg rod that stains poorly bc it is primarily intracellular –> sputum Grain stain show neutrophils but no organisms
Definitive dx: culture in combo with urinary antigen
Tx: macrolides, fluoroquinolones
Alpha-1 antitrypsin deficiency
Genetic disease with sx of COPD and liver dz
Smokers present in their 30’s, non-smokers present in their 40’s
Consider in pts with COPD at young age, COPD with minimal or no history of smoking, or family hx of emphysema or liver dz
Dx: AAT levels, PFT’s
Tx: IV supplementation of human AAT
Interstitial lung disease
Asbestos: pneumoconiosis
- inc incidence in mining, shipbuilding, insulation, pipework, plumbing
- CXR: insterstitial abnormalities in lower lobes, pleural plaques = hallmark
- PFT: restrictive pattern
- bronchogenic carcinoma = most common malignancy in ppl with asbestos esp if smoker as well; more common than pleural mesotheliomas
Sideroblastic anemia
Acquired:
due to defective heme synthesis (ex isoniazid = pyridoxine antagonist and there are pyridoxine-dependent steps in protoporphyrin synthesis)
- Microcytic hypochromic anemia simulating IDA
- Can usually see dimorphic RBC population (hypochromic and normochromic)
- Iron studies: inc serum iron concentration, decreased TIBC
- Bone marrow sampling confirms dx by demonstrating ringed sideroblasts
Iron poisoning
Lead poisoning
Iron poisoning:
acute: abd pain, HEMATEMESIS, hypovolemic shock, anion gap metabolic acidosis
Source: pre-natal vitamins, iron supplements
Antidote = deferoxamine
Iron is radioopaque and can be seen on xray
Confirm: serum iron levels
Tx: deferoxamine; whole bowel irrigation is sometimes instituted but other methods of decontamination are not recommended
Lead poisoning:
RF’s: infants/toddlers living in homes built before 1978
asymptomatic, cognitive/behavioral problems, irritability, poor appetite, headaches, abd pain, anemia
Dx: capillary (fingerstick) blood specimens are widely used as screening however false positive results are common –> confirm with a venous lead measurement if screening capillary lead level is >5.
Tx: succimer, calcium EDTA
In adults -
GI manifestations (abd pain, constipation), neuropsychiatric manifestations (forgetfulness), motor and sensory neuropathies (extensor weakness, stocking-glove distribution), hematologic manifestations (lead disrupts heme synthesis –> microcytic anemia with basophilic stippling)
Occupation: battery manufacturing, plumbing, home restoration, distillation of alcohol through parts with lead soldering)
Myoglobinuria
from rhabdomyolysis
Suspect when test results demonstrate large amount of blood on UA but relative absence of RBC’s on urine microscopy
nearly 20% of cocaine overdoses are complicated by rhabdo
Niacin
side effects: cutaneous flushing, generalized pruritis
Due to drug-induced release of histamine and prostaglandins (not a true hypersensitivity)
Low-dose aspirin can reduce or prevent cutaneous flushing and pruritis if taken 30 min before niacin
Sx usually improve after 2-4 weeks of therapy
–
pellagra can result from carcinoid syndrome (serotonin is synthesized in carcinoid cells from tryptophan which is also used in the production of niacin)
Hearing loss
Presbycusis: sensorineural hearing loss that occurs with aging; symmetrical high frequency hearing loss; difficulty hearing in crowded or noisy environments
Otosclerosis: conductive hearing loss due to bony overgrowth of the stapes; begins with low frequency hearing loss
Serous otitis media:
Meniere’s disease: tinnitus, vertigo (fullness due to lots of endolymph - endolymph hydrops), sensorineural hearing loss
tx: benzos, anticholinergics (scopolamine), antihistamines - for acute stuff
furosenemide - long term
Cholesteatoma: abnormal skin growth in the middle ear. Suspect in any patient with continued ear drainage for several weeks despite appropriate antibiotic therapy.
Chronic middle ear disease leads to formation of a retraction pocket in the tympanic membrane which can fill with granulation tissue and skin debris
Complications: hearing loss, CN palsy, vertigo, brain abscess or meningitis; should be referred to ENT
AAA
Repair can lead to bowel ischemia/infarction
Strongest predictors of AAA expansion/rupture = large aneurysm diameter, rapid rate of expansion, and current cigarette smoking
Indications for repair: size > 5.5 cm, rapid rate of expansion (>0.5cm in 6 months or >1cm in a year), presence of sx regardless of size
Fetal exposure
Valproic acid: inc risk of neural tube defects, cardiac anomalies, dysmorphic facies
Fetal hydantoin syndrome (phenytoin): nail/digit hypoplasia, dysmorphic faces, MR, growth deficiency
Fetal alcohol syndrome: growth deficiency, long smooth philtrum, small palpebral fissures, thin upper lip, MR
Cocaine: jitteriness, excessive sucking, hyperactive Moro reflex
Neonatal abstinence syndrome (opioids): irritability, high pitched cry, poor sleeping, tremors, seizures, sweating sneezing, v, d
Refeeding syndrome
Due to surge in insulin activity as body resumes anabolism
Carb ingestion causes pancreatic insulin secretion and cellular uptake of phosphorus, potassium and magnesium
Phosphorus = primary deficient electrolyte as it is required for energy (ATP)
Potassium and magnesium deficiencies potentiate cardiac arrhythmias and cardiopulmonary failure
Babesiosis
Ehrlichiosis
Dengue fever
Chikungunya fever
- Tick bite (Ixodes)
- Fever, fatigue, myalgias, headache
- Lab findings: anemia, thrombocytopenia, inc bilirubin/LDH/LFT’s
- Dx: blood smear showing intraerythrocytic rings aka maltese cross
- Tx: atovaquone and azithromycin
Ehrlichiosis
- Tick bite (Amblyomma americanum)
- Fever, myalgias, headache (flu-like illness)
- NO RASH **
- Lab findings: leukopenia, thrombocytopenia, elevated aminotransferases and LDH
- Dx: clinical; visualization of intracytoplasmic morulae in WBC’s or thru PCR
- Tx: doxycycline
Dengue fever:
- Vector: aedes mosquito
- Can be asymptomatic, but some pts develop fever and severe myalgias/headache (breakbone fever)
- Lab findings: leukopenia, thrombocytopenia
Chikungunya fever:
- Central/S America, Africa, S Asia
- Vector: aedes mosquito
- HA, myalgias, conjunctivitis, maculopapular rash
- Lab findings: lymphopenia, thrombocytopenia, elevated liver enzymes
- Tx: supportive care
Sialadenosis
Benign noninflammatory nontender enlargement of the submandibular glands
Commonly found in patients with advanced liver disease (eg alcoholic and nonalcoholic cirrhosis) and ppl with altered dietary patterns or malnutrition (eg diabetes, bulimia)
Coarctation of the aorta
Clinical features:
- upper body: well developed, HTN
- lower body: underdeveloped, claudication
- brachial-femoral pulse delay
- upper and lower extremity BP differential
- systolic murmur; can be continuous if collateral vessels are present
Diagnostic studies:
ecg - LV hypertrophy
cxr - inferior notching of the posterior third of the 3rd to 8th ribs (bony erosion due to enlarged intercostal arteries), “3 sign” due to aortic indentation
Turner syndrome
Streak ovaries –> low E –> risk of osteoporosis
Associated with kyphoscoliosis
Associated with bicuspid aortic valve (20-30%), coarctation of the aorta (3-10%), and aortic root dilation with inc risk of aortic dissection
Attributable risk percent
aka etiologic fraction
represents the excess risk in a population that can be explained by exposure to a particular risk factor
ARP = (risk in exposed - risk in unexposed) / risk in exposed ARP = (RR-1)/RR
Gallstone ileus
a form of SBO
n, v, pneumobilia, hyperactive bowel sounds, dilated loops of bowels
dx: confirmed by abd CT scan
tx: surgical removal of stone and either simultaneous or delayed CCY
Bronchial rupture
Suspect in persistent pneumothorax and significant air leak despite chest tube placement in a patient who has sustained blunt chest trauma
Other findings: pneumomediastinum, subcutaneous emphysema
Analgesic nephropathy
Chronic analgesic use can cause CKD due to chronic tubulointerstitial nephritis and hematuria due to papillary necrosis from analgesic-induced vasoconstriction of medullary blood vessels (vasa recta)
Toxic megacolon
Associated with UC and c diff
presents with total or segmental nonobstructive colonic dilation, severe bloody diarrhea, and systemic findings
Dx: confirmed by plain abd x rays showing dilated right or transverse colon, possible multiple air fluid levels, and thick haustral markings that do not extend across the entire lumen; and >3 of the following: fever, tachycardia, leukocytosis, anemia
also, abdominal distension
medical emergency
tx: IVF, antibiotics, bowel rest, IV corticosteroids for IBD-induced toxic megacolon
Wilson dz
AR –> hepatic copper accumulation –> leak from damaged hepatocytes –> deposits in tissues
Atrophy of the lenticular nucleus
Hepatic, neurologic, and psychiatric manifestations
Dx: decreased ceruloplasmin, inc urinary copper excretion
tx: chelators (D-penicillamine, trientine); zinc (interferes with copper absorption)
Tourettes
Most effective nonpharm tx = habit reversal training, a form of behavioral therapy
Alpha-2 adrenergic receptor agonists (eg clonidine, guanfacine) in mild cases
Risperidone or other dopamine blocking agents in more severe cases
Trisomy 18
Trisomy 13
CHARGE syndrome
Trisomy 18 / Edwards syndrome: IUGR, microcephaly, VSD, closed fists with overlapping fingers, micrognathia, prominent occiput, rocker-bottom feet, severe ID
Trisomy 13 / Patau syndrome: cutis aplasia (absence of epidermis over the skull) and microphthalmia, midline defects (holoprosencephaly, omphalocele)
CHARGE: coloboma, heart defects, atresia choanae, retardation of growth/development, genitourinary anomalies, ear abnormalities/deafness
Choanal atresia: failure to pass a catheter through the nares into the oropharynx; dx is confirmed by CT
The only indication for hormone replacement therapy
for vasomotor symptoms (hot flash) in women age <60 who have undergone menopause within the past 10 years
NOT indicated for prevention of chronic disease
Priapism
most common drug that causes priapism = prazosin
also, trazodone
Valvular heart dz
Aortic Regurg
Supravalvular aortic stenosis
ASD
AR:
Exertional dyspnea, pounding heart sensation (inc in LV size brings the ventricular apex close to the chest wall), widened pulse pressure, water hammer or Corrigan pulse
Most common cause of AR in developing countries is rheumatic heart disease; in developed countries it is often due to aortic root dilation or congenital bicuspid valve
Supravalvular aortic stenosis: 2nd most common type of AS; congenital LV outflow tract obstruction due to discrete or diffuse narrowing of the ascending aorta.
Causes a systolic murmur in the FIRST right ICS, higher than where valvular aortic stenosis is best heard; may have unequal carotid pulses or differential BP in the upper extremities
–> LV hypertrophy over time; associated also with coronary artery stenosis –> can lead to cardiac ischemia during exercise, etc
ASD: wide, fixed splitting of the 2nd heart sound. Systolic murmur is sometimes heard at the LUSB from increased flow across the pulmonary valve
Bacillary angiomatosis
Bartonella infection seen primarily in patients with HIV with CD4 counts <100
Vascular cutaneous lesions that begin as small papules that evolve into friable pedunculated or nodular lesions
Constitutional symptoms
Dx: tissue biopsy with histopathology and microscopic ID of organisms
Tx: antibiotics (doxycycline, erythromycin) and initiation of antiretroviral therapy usually 2-4 weeks later
Palpable breast mass - next step?
Age < 30 –> US +/- mammo
Age > 30 –> mammo +/- US
Warfarin-associated intracerebral hemorrhage
Warfarin-induced skin necrosis
Reverse anticoagulation immediately
Initial therapy -
IV vitamin K (takes 12+ hrs to be effective though)
Prothrombin complex concentrate (contains vit K dependent clotting factors that offer rapid and short term reversal)
FFP - considered if PCC is not available
Warfarin-induced skin necrosis: occurs within the first few days of warfarin therapy (usually at large loading doses). Warfarin decreases protein C anticoagulant activity to 50% within the first day while levels of procoagulant factors (2, 9, 10) decline more slowly, leading to a transient hypercoagulable state –> inc the risk for VTE and skin necrosis, esp in pts with underlying hereditary protein C deficiency
tx: stop warfarin, administer protein C concentrate
Behcet disease
Recurrent, painful oral aphthous ulcers Genital ulcers Eye lesions (uveitis) Skin lesions (eg erythema nodosum, acneiform lesions) Thrombosis --> major cause of morbidity
Evaluation:
Pathergy (exaggerated skin ulceration with minor trauma eg needlestick)
Biopsy
Adverse effects of antithyroid drugs, radioiodine ablation, and surgery
Antithyroid drugs: agranulocytosis - if pt complains of sore throat/fever/etc, drug should be discontinued promptly and WBC measured. Total WBC count < 1000 warrents permanent discontinuation of the drug. If total is more than 1500, antithyroid drug toxicity is unlikely the cause
methimazole - 1st trimester teratogen, cholestasis
PTU - hepatic failure, ANCA-associated vasculitis
Radioiodine ablation: permanent hypothyroidism, WORSENING OF OPHTHALMOPATHY, possible radiation side effects
Surgery: permanent hypothyroidism, risk of recurrent laryngeal nerve damage, risk of hypoparathyroidism
Over the counter cold medicine (antihistamines, alpha-adrenergic agents, dextromethorphan)
Can cause hallucinations/psychosis as a side effects
Adenomyosis
Endometrial glands become trapped within the myometrium and continue to cyclically shed in that new location
Typical presentation: dysmenorrhea with heavy menstrual bleeding with progression to chronic pelvic pain
PE: boggy (soft/flaccid), tender, uniformly enlarged uterus
Dx: pelvic US and/or MRI - initial
gold standard = histopathologic exam of hysterectomy specimen
Tx: hormonal methods (OCP’s, levonorgestrel IUD)
hysterectomy = definitive
Epiglottitis
Croup
Retropharyngeal abscess
Epiglottitis - thumbprint sign
Croup (laryngotracheitis) - steeple sign (subglottic edema); parainfluenza viral infection of the larynx and trachea
features: inspiratory stridor, barking cough, hoarseness
tx: mild (no stridor at rest) - humidified air +/- corticosteroids
moderate/severe (stridor at rest) - corticosteroids + nebulized racemic epinephrine
Retropharyngeal abscess - prevertebral widening; see air-fluid level on scans; infection within the retropharyngeal space can drain into the superior mediastinum and extend through the alar fascia into the posterior mediastinum and result in acute necrotizing mediastinitis
FSGN
- classically seen in HIV and heroin use, obesity, AA and hispanic ethnicity
- presentation: proteinuria and azotemia with rapid development of renal failure
Stroke
Lacunar strokes
Lacunar: due to microatheroma formation and lipohyalinosis in the small penetrating arteries of the brain –> often affect the internal capsule and result in pure motor hemiparesis
Cardiac tamponade
Pulsus paradoxus
Constrictive pericarditis
Cardiac tamponade: decrease in cardiac output bc the pressure exerted on the heart by the pericardial fluid is greater than the venous pressure that fills the R atrium during diastole.
can be a postop complication of CABG —> beck triad, pulsus paradoxus
Urgent echo confirms the diagnosis –> immediate percutaneous or surgical (pericardial window) drainage of pericardial fluid
Cardiac catheterization in patients with tamponade typically reveal elevated and equilibrated intracardiac diastolic pressures.
Pulsus paradoxus:
exaggerated drop in SBP (>10 mmHg) during inspiration
most commonly seen in patients with cardiac tamponade but can also occur in severe asthma and COPD, hypovolemic shock, and infrequently with constrictive pericarditis
cardiac filling in cardiac tamponade can only occur during deep inhalation when the neg intrathoracic pressure allows for a pressure diff between the vena cava and the R atrium
can manifest as a loss of palpable radial pulse during inspiration
Constrictive pericarditis = important cause of right heart failure
Hypomagnesemia
Associated with chronic alcoholism
Commonly occurs with hypokalemia (hypokalemia that cannot be corrected with K replacement)
Intracellular mag is thought to inhibit K secretion by renal outer medullary potassium channels in the collecting tubules of the kidney –> low intracellular magnesium concentrations result in excessive renal K loss and refractory hypokalemia
Normalize mag levels to allow for restoration K
TORCH infections
Rubella: PDA, sensorineural hearing loss, cataracts
Toxo: chorioretinitis, hydrocephalus, intracranial calcifications
CMV: chorioretinitis, periventricular calcifications
Syphilis: hepatomegaly, nasal discharge/snuffles, osteoarticular destruction, maculopapular rash
Nephrotoxic and ototoxic drugs
Aminoglycosides, vancomycin, furosemide (loop diuretics)
Trihexyphenidyl
Anticholinergic meds used in Parkinson’s disease, generally in younger patients where tremor is the primary sx
Schatzki ring
Plummer-Vinson syndrome
Schatzki ring: scarring/tightening of the distal esophagus (peptic stricture) causing intermittent dysphagia from acid reflux associated with hiatal hernia tx: pneumatic dilation
Plummer-Vinson syndrome:
esophageal webs (more proximal), IDA, dysphagia, spoon-shaped nails, glossitis/cheilitis
tx: iron replacement
Airway pressures / Physiology
Peak airway pressure = sum of airway resistance + plateau pressure
Plateau pressure = sum of elastic pressure + PEEP
Calculated by performing the end-inspiratory hold maneuver
PEEP is calculated with the end-expiratory hold maneuver
Elastic pressure = tidal volume / compliance
Decreased compliance (eg pulmonary fibrosis) causes stiffer lungs and higher elastic pressure
Cortical laminar necrosis
Hallmark of prolonged seizures / status epilepticus
Increased risk of developing permanent injury due to excitatory cytotoxicity
Can lead to persistent neurologic deficits and recurrent seizures
Brain death
Absent cortical and brain stem functions
Spinal cord may still be functioning though so DTR’s may still be present
Confirm using EEG = isoelectric EEG
SLE
known RF for accelerated atherosclerosis and premature CAD
hematologic manifestations include anemia, leukopenia, thrombocytopenia, and antiphospholipid syndrome
Pancytopenia is most commonly due to concurrent peripheral immune-mediated destruction of all 3 cell lines
Focal proliferative glomerulonephritis = subset of class III SLE nephritis
Angina
If suspected and stable –> exercise ECG = initial stress test for dx and risk stratification
Coronary angiography is performed in pts with high risk findings on initial stress test
Dermatology: Actinic keratosis Seborrheic dermatitis Seborrheic keratosis Vitiligo Tinea versicolor Acanthosis nigricans Senile purpura Porphyria cutaneous tarda SCC/BCC Melanoma Impetigo SJS/TEN Exfoliative dermatitis SSSS Ecthyma gangrenosum Bullous pemphigoid vs Pemphigus valgaris Idiopathic guttate hypomelanosis Piebaldism Pyoderma gangrenosum Keratoacanthoma
Actinic keratosis: scaly papules or plaques; chronic sun exposure = major RF; premalignant lesion for SCC although likelihood is low
Seborrheic dermatitis: scaly, oily erythematous rash affecting the skinfolds around the nose, eyebrows, ears, and scalp
Seborrheic keratosis: stuck on appearance found on elderly people
*sudden onset of a lot of these = sign of malignancy
Vitiligo: regional destruction of melanocytes most likely due to autoimmune etiology; associated with other autoimmune conditions
Tinea versicolor: hypopigmented macules (partial depigmentation when compared to vitiligo); HIV infection inc risk for tinea versicolor
Acanthosis nigricans:
benign - seen in younger people, associated with insulin resistance
malignant - associated with underlying neoplasms esp of the GI and GU. Sudden appearance of these skin changes in older people is suggestive of underlying malignancy
Senile purpura:
Noninflammatory disorder most common in the elderly but can also be seen in middle aged patients with extensive sunlight exposure; presents with skin fragility, ecchymosis, and normal lab studies
Caused by loss of elastic fibers in perivascular connective tissue
Minor abrasions that would merely stretch the skin in younger patients can rupture superficial blood vessels in the elderly –> subsequent extravasation of blood leads to ecchymosis over vulnerable areas; can see brownish discoloration from hemosiderin deposition
Porphyria cutanea tarda: most common porphyria
due to deficiency of uroporphyrinogen decarboxylase
Can be triggered by ingestion of ethanol or estrogens
Frequently associated with hep C*, HIV, excessive alcohol consumption, estrogen use, smoking
Manifestations: photosensitivity with blisters and skin fragility
SCC = enlarging nodule in sun-exposed areas. lesions often become keratinized or ulcerate with crusting and bleeding. Can display early perineural invasion, causing regional neurologic symptoms. Common in patients with hx of organ transplant and on chronic immunosuppressive therapy. ; most common malignancy of the lip, with 95% cases occurring in the lower lip vermilion
histology: invasive cords of squamous cells with keratin pearls
associated with burn wound = marjolin ulcer
BCC typically affects the upper lip
Melanoma - suspect if substantially diff from others (ugly ducking sign), itches or bleeds, or develops new nodularity –> excisional biopsy with initial margins of 1-3mm normal tissue
Impetigo:
limited skin involvement - topical antibiotics like mupirocin
extensive skin involvement - oral antibiotics like cephalexin, dicloxacillin, clindamycin
SJS/TEN: SJS <10% BSA; 10-30% SJS/TEN; TEN >30%
TEN - inflammatory hypersensitivity reaction to drugs or infections - coalescing erythematous macules, bullae, desquamation, and mucositis. + Nikolsky’s sign
Exfoliative dermatitis / erythroderma: widespread, scaly eruption of the skin; may be drug-induced, idiopathic, or 2/2 underlying dermatological or systemic dz
SSSS: toxin produced by Staph aureus; skin has sandpaper-like diffuse erythematous rash; bullae, + Nikolsky’s sign, facial edema, perioral crusting, dehydration
Ecthyma gangrenosum: associated with Pseudomonas aeruginosa; rapid progression from small erythematous macule to larger, nontender nodules with necrosis; caused by bacterial invasion through the media and adventitia of blood vessels; seen in patients who are immunocompromised
Bullous pemphigoid: tense bullae; no oral lesions or acantholysis; subepidermal cleavage with linear IgG against hemidesmosomes at the basement membrane; tx: high potency topical glucocorticoids
Pemphigus vulgaris: acantholysis and intraepidermal cleavage; intercellular IgG against desmogleins; involvement of oral cavity
Idiopathic guttate hypomelanosis: common finding with aging; characterized by smal macules in sun-exposed areas
Piebaldism: AD; patchy absence melanocytes; usually noticed at birth and confined to the head and trunk
Pyoderma gangrenosum: neutrophilic ulcerative skin disease. Starts off as an inflammatory papule pustule vesicle or nodule and progresses to form an expanding ulcer with a purulent base and ragged violaceous borders; associated with underlying systemic disorder like IBD, arthropathies, and hematologic conditions. Diagnosed clinically after exclusing other disorders; skin biopsy. Tx requires local or systemic corticosteroids
Keratoacanthoma: benign cutaneous tumor with dome-shaped nodules with central keratin plug
Diabetes Meds
Metformin: initial therapy, weight neutral, low risk of hypoglycemia, lactic acidosis = life threatening complication so avoid in pts with renal insufficiency
Sulfonylurea: main side effects are weight GAIN and hypoglycemia
Pioglitazone (TZD’s): side effects include weight GAIN, edema, CHF, bone fracture, bladder cancer; CAN be used in renal insufficiency
DPP-4 inhibitors (sitagliptin): low risk of hypoglycemia, WEIGHT NEUTRAL. CAN be used in renal insufficiency
GLP-1 receptor (exenatide): causes WEIGHT LOSS, low hypoglycemia risk
Trochanteric bursitis vs OA of the hip
Trochanteric bursitis: superficial unilateral hip pain exacerbated by external pressure to the upper lateral thigh
OA of hip: pain deep within the joint referred to the inguinal area or to the knee; internal rotation of the hip worsens the pain
Sleep syndromes:
Delayed sleep phase syndrome
Advanced sleep phase syndrome
Shift work sleep disorder
Delayed:
circadian rhythm disorder
inability to fall asleep at “normal” bedtimes –> sleep-onset insomnia, excessive daytime sleepiness
can sleep normally if allowed to follow internal circadian rhythm and sleep until late morning
Advanced:
circadian rhythm disorder
inability to stay awake in the evening (usually after 7PM) –> social functioning is difficult
early morning insomnia due to early bedtime
Shift work disorder:
recurrent pattern of sleep interruption due to shift work –> work schedule that is incongruent with a NORMAL circadian clock
TCA overdose
mental status change, seizures, tachycardia, hypotension, cardiac conduction delay, anticholinergic effects, and CARDIOTOXICITY due to blockade of cardiac fast sodium channels –> QRS prolongation and risk of developing ventricular arrhythmia
ECG should be obtained immediately and monitored
QRS > 100ms = associated with increased risk for ventricular arrhythmia and seizures; used as an indication for sodium bicarb therapy
TCA’s inhibit fast sodium channels in the His-Purkinje system and myocardium. This decreases conduction velocity, increases duration of repolarization, and prolongs absolute refractory periods.
–> hypotension, QRS prolongation, and ventricular arrhythmias
Sodium bicarb increases serum pH and extracellular sodium, which alleviates depressant actions on myocardial sodium channels
Pseudocyesis
RF = history of infertility, prior pregnancy loss
Somatization of stress that affects the HPO axis and Causes early pregnancy symptoms or when bodily changes like weight gain and amenorrhea are misinterpreted
–> nonpsychotic patient who believes she is pregnant
Management: psych eval and tx
Alloimmunization
Mom is alloimmunized / sensitized when her anti-D antibody titer is greater than 1:8.
To prevent this, mom is supposed to be given anti-D IG at 28 weeks gestation and repeated within 72 hrs of delivery
50% of Rh negative women will need a higher dose than standard dose after delivery, placental abruption, procedures, etc.
Kleihauer-Betke (KB) test is used to determine the dose –> RBC from mom’s circulation are fixed on a slide, then exposed to an acidic solution where the adult hemoglobin lyses. Dose of anti-D IG is calculated from the % of remaining fetal hemoglobin
Lung cancers: Adenocarcinoma Small cell lung cancer Squamous cell lung cancer Large cell lung cancer Pancoast tumor
Adenocarcinoma: 40-50% incidence. Peripheral. Associated with clubbing and hypertrophic osteoarthropathy
Small cell: 10-15%. Central. SIADH, Lambert-Eaton, Cushing
Squamous cell: 20-25%. Central, necrosis and cavitation. PTHrP
Large cell: 5-10%. Peripheral. Associated with gynecomastia, galactorrhea
Pancoast tumor = superior pulmonary sulcus tumor
typical lung cancer sx but + shoulder pain due to invasion of brachial plexus and adjacent structures, horner syndrome, C8-T2 neuro involvement, supraclavicular lymph node enlargement. CXR = initial test
Primary amenorrhea
Measure FSH
If high –> karyotype analysis
If low –> brain MRI
Diabetic ophthalmoplegia
ischemic neuropathy of CN III due to poorly controlled DM
CN 3 has 2 components:
- inner somatic fibers (EOM’s and levator muscle)
- superficial parasympathetic fibers (sphincter of iris and ciliary muscles)
Blood supply runs through the middle of the nerve so ischemic injury will first present with ptosis and down and out gaze with preserved pupillary response
Secondary bacterial pneumonia
Most common complication of influenza
Most occur in age >65, rare in young people with exception of community acquired MRSA
CA-MRSA causes severe, necrotizing pna that is rapidly progressive and often fatal. manifestations = high fever, productive cough with hemoptysis, leukopenia, multilobar cavitary infiltrates
Requires admission to ICU with broad spectrum empiric abx
Prevalence and PPV/NPV
High prevalence –> high PPV, low NPV
Low prevalence –> low PPV, high NPV
Compartment syndrome
Ischemia-reperfusion syndrome is a form of compartment syndrome - due to interstitial edema and possibly intracellular swelling following tissue ischemia and subsequent reperfusion
Narcolepsy
Modafinil = first line - nonamphetamine medication that promotes wakefulness, reduces daytime sleepiness, generally well tolerated, and has less abuse potential compared with traditional stimulants
