Path Flashcards
Fibrocystic change
usually benign, some changes associated with increased risk for invasive carcinoma cystic breasts blue dome gross appearance
Anitschkow cells are plump macrophages seen in what dx?
Rheumatic heart disease (beta hemolytic, group A streptococcus) Anitschkow cells are part of the Aschoff bodies lesions
What drugs cause interstitial nephritis?
sulfonamides, penicillins, cephalosporins, the fluoroquinolone antibiotics ciprofloxacin and norfloxacin, and the antituberculous drugs isoniazid and rifampin. Acute tubulointerstitial nephritis also can occur with use of thiazide and loop diuretics, cimetidine, ranitidine, omeprazole, and nonsteroidal anti-inflammatory drugs. The disease manifests about 2 weeks after the patient begins to use the drug.
What is the effect of the following teratogen?
Phenytoin
Digit hypoplasia and cleft lip/palate
Anti-DNA topoisomerase antibody is seen in:
scleroderma (mainly affects vasculature of kidney)
What is the diagnosis? Benign cystic tumor with abundant lymphocytes and germinal centers; Almost always arises in the parotid
Warthin tumor 2nd most common tumor of the salivary gland
Name the dx:
The orifice of the prepuce cannot allow retraction over the glans penis, and can strangulate the glans and impede the outflow of venous blood
Phimosis
Complication when blood flow is obstructed is paraphimosis
Same small lymphocytes as CLL, but appearing in tissue and not blood; widespread lymphadenopathy; liver and spleen enlargement; lymphocytosis
Small lymphocytic lymphoma
Lobular Carcinoma In Situ (LCIS)
discohesive cells lacking E-cadherin
no mass or calcifications
treatment with tamoxifen
**LCIS, more than DCIS, serves as a marker for enhanced risk of subsequent invasive carcinoma in both breasts
Volvulus is found in the elderly in:
sigmoid colon
Neurogenic bladder
Control of micturition is disrupted by spinal cord transection above the sacral cord, and detrusor hyperreflexia can occur in this instance.
Blockade of muscarinic acetylcholine receptors with agents like tolterodine and other antispasmodics can decrease this parasympathetic-related hyperactivity.
Invasive Lobular Carcinoma
second most common form of invasive breast cancer
can be a discrete firm mass or not
single strands or lines of cells with stroma in between
Labs Hep B:
ALT>AST, in the thousands; Bili high
Name the diagnosis:
recent acute Hep B infection; ANCA (+); Proteinuria; Fever, muscle pain, weight loss; Lesions on legs - reddish-blue; Elevated ESR
Polyarteritis nodosa
small to medium arteries
fibrinoid necrosis = eosinophilic mass that stains for fibrin
Frataxin is essential for what?
Mitochondrial iron regulation;
loss results in iron build-up with free radical damage;
this is the gene impaired in Friedreich Ataxia
Frataxin, Fe, Free radical damage, Friederich Ataxia
CK activity does what after an MI?
CK activity begins to increase 2 to 4 hours after an MI, peaks at about 24 to 48 hours, and returns to normal within 72 hours. Total CK activity is a sensitive marker for myocardial injury in the first 24 to 48 hours.
Hep C is Sexual?
Not really, Hep B is sexually transmitted Hep C is blood (tattoos, IV drug use)
Most common breast cancer in men:
Invasive ductal carcinoma (still very rare)
BRCA2 plays a role
Name the disorder characterized by: 1. Platelet destruction secondary to heparin therapy 2. May cause thrombosis from destroyed platelets activating remaining platelets
Heparin-induced thrombocytopenia
Desquamative interstitial pneumonitis is related to what predisposition?
Desquamative interstitial pneumonitis (DIP) is an uncommon smoking-related interstitial disease in which monocytes gather to form intra-alveolar macrophages.
Necrotizing vasculitis occurs in pulmonary vasculature in association with:
Necrotizing vasculitis occurs in pulmonary vasculature in association with anti–neutrophil cytoplasmic autoantibody (ANCA)–associated granulomatous vasculitis.
Dental caries are most often caused by:
Strep mutans
Prevention is fluoride
A 10-year-old girl develops subcutaneous nodules over the skin of her arms and torso 3 weeks after a bout of acute pharyngitis. She manifests choreiform movements and begins to complain of pain in her knees and hips, particularly with movement. A friction rub is heard on auscultation of her chest. An abnormality detected by which serum laboratory finding is most characteristic of the disease affecting this girl?
anti–streptolysin O (ASO) titer
Acute rheumatic fever can involve any or all layers of the heart. Because rheumatic fever follows group A streptococcal infections, the antihyaluronidase, anti-DNase, and anti–streptolysin O (ASO) titers are often elevated.
What is the anatomical (as opposed to clinical) result of an ischemic stroke?
Liquefactive necrosis
Eosinophilic change –> Necrosis –> fluid-filled cystic space surrounded by gliosis
Chronic inflammatory disease of the salivary and lacrimal glands that may be restricted there or be part of a systemic collagen vascular disease
Sjogren syndrome
Name the diagnosis corresponding to this autoantibody:
Anti-basement membrane
Goodpasture syndrome
PJP in neonates
Premature infant with respiratory distress and a biopsy showing surfactant-rich exudate and silver-staining cysts:
Pneumocystis jirovecii
The surfactant-rich exudate is due to the replication of type 2 pneumocytes.
Dx: Liver infarction due to hepatic vein obstruction; Painful hepatomegaly and ascites
Budd-Chiari syndrome
Dx: Waxing and waning RUQ pain; Due to gallbladder contracting against stone lodged in cystic duct
Biliary colic
Complication of gallstones
Subepithelial electron-dense humps represent immune complexes seen in:
Postinfectious GN
The most important gene in familial cases of _________ is that of cyclin-dependent kinase inhibitor 2 (CDKN2A), which encodes several tumor suppressors including p16/INK4A.
dysplastic nevus syndrome
The finding of pulmonary hypertension in a young individual without any known pulmonary or cardiac disease is typical for primary pulmonary hypertension. With what gene is this associated?
BMPR-2 - bone morphogenic receptor 2 BMPR2, a cell surface protein belonging to the TGF-β receptor superfamily, causes inhibition of vascular smooth muscle cell proliferation and favors apoptosis. In the absence of BMPR2 signaling, smooth muscle proliferation occurs, and pulmonary hypertension ensues.
Give the dx:
Abnormal type IV collagen in the glomerular BM;
Hematuria presents early in life;
Proteinuria;
progressive renal failure and HTN develop later in life
Hereditary nephritis (Alport syndrome)
Mutations in fibrillin gene
Marfan Syndrome
Give the dx: Chronic immune complex disease; Granular deposition of immunoglobulin and complement in glomerular capillary loops and mesangium
Membranoproliferative glomerulonephritis type 1 (MPGN-1)
Patients with autoimmune chronic gastritis are at increased risk for
Gastric adenocarcinoma (from intestinal metaplasia)
Facial hyperpigmentation in a pregnant woman
Melasma
Apolipoprotein B-100 function
make VLDL and LDL
Androgenital syndrome
congenital 21-hydroxylase deficiency virilization in females a congenital adrenal hyperplasia high levels of androgens lead to premature closure of epiphyses
Name the diagnosis: Vasculitis with cryoglobulin immune deposits affecting small vessels (predominantly capillaries, venules, or arterioles) and associated with serum cryoglobulins. Skin, glomeruli, and peri- pheral nerves are often involved.
Cryoglobulinemic vasculitis (CV)
Cause of von-hippel lindau syndrome
mutated VHL tumor suppressor gene
Dx: Giant cell pneumonia with “Warthin-Finkeldey giant cells”
Measles pneumonia
What is the diagnosis? Bilateral parotitis with increased serum amylase; Complications include meningoencephalitis, unilateral orchitis or oophoritis and pancreatitis
Mumps (paroxymyxovirus)
A 62-year-old woman has had increasing dyspnea for the past 2 years. She now awakens at night with air hunger and cough productive of frothy sputum. On examination, she has rales in all lung fields. Her point of maximal impulse is strong and displaced laterally. Echocardiography shows a decreased ejection fraction of 30% with concentric increase in left ventricular wall size. The valves appear normal. What underlying diseases does she have?
HTN
Left-sided congestive heart failure leads to pulmonary congestion and edema.
Systemic hypertension is common and leads to pressure load with predominantly concentric left ventricular hypertrophy with systolic dysfunction.
What is Sheehan syndrome?
Hypopituitarism caused by infarction (ischemic necrosis) of the anterior pituitary Can happen during pregnancy when it enlarges
A 50-year-old man with a history of infective endocarditis has increasing fatigue. He receives a bileaflet tilting disk mechanical mitral valve prosthesis. After surgery, he is stable, and an echocardiogram shows no abnormal valvular or ventricular function. What pharmacologic agent should he receive regularly after this surgical procedure?
Warfarin Anticoagulant therapy is necessary for patients with mechanical prostheses to prevent potential thrombotic complications.
PTEN tumor suppressor gene
hormonally regulated in the normal endometrium
biomarker for endometrial carcinogenesis
Hemorrhage and contraction bands in necrotic myocardial fibers are most likely to be seen with infarction in what clinical setting?
Thrombolytic therapy
Reperfusion of an ischemic myocardium by spontaneous or therapeutic thrombolysis changes the morphologic features of the affected area.
Reflow of blood into vasculature injured during the period of ischemia leads to mitochondrial dysfunction, followed by leakage of blood into the tissues (hemorrhage).
What is the diagnosis? Heliotropic rash on the upper eyelids, face and trunk; Increased serum levels of creatinine kinase; Thought to be of autoimmune origin
Dermatomyositits
What is the diagnosis? Benign papillary tumor of the vocal cord; Due to HPV 6 and 11; Presents with hoarseness
Laryngeal Papilloma
Common autoimmune blistering disease;
Acantholysis (loss of intercellular connections) absent;
IgG antibodies are directed against 2 basement membrane proteins, BPAG1 and BPAG2;
immunofluorescent studies reveal linear deposition of C3 and IgG along epidermal BM zone
Bullous pemphigoid
Patients with H. Pylori chronic gastritis are at increased risk for what 3 things?
- ulceration 2. gastric adenocarcinoma 3. MALT lymphoma
CD19 is a:
B-cell marker
What is the diagnosis? Hypersensitivity reaction against mycoplasma or sulfa drugs
Erythema multiforme
called Stevens-Johnson syndrome when it involves the mouth
Name the disorder characterized by: 1. Genetic G2b-3a deficiency 2. Impaired platelet aggregation
Glanzmann Thrombasthenia
Glanzmann thrombasthenia is a rare autosomal recessive disorder with defective platelet aggregation from deficiency or dysfunction of glycoprotein IIb/IIIa.
Achondroplasia
dwarfism
overexpression of FGF3
autosomal dominant
failure of normal epiphyseal cartilage formation
poor endochondral bone formation - long bones cant grow
Hypercalcemia occurs with myeloma because:
myeloma cells produce MIP1-α that up-regulates RANKL production and increased osteoclastic activity; punched-out lytic bone lesions are typical of multiple myeloma.
T/F: Diabetes affects both the sensory and the motor portions of the peripheral nervous system.
True
Common cause of distal polyneuropathy
Name the kind of cancer:
Peripheral subpleural mass
Nonsmoker
Glandular appearance on H&E
Adenocarcinoma
Cancers that arise in nonsmokers are pathogenetically distinct from those that occur in smokers. They may have either EGFR mutations or KRAS mutations. Most are adenocarcinomas. Twenty-five percent of lung cancers worldwide occur in nonsmokers. Primary adenocarcinomas in the lung tend to be small, peripheral masses that are amenable to surgical excision and have a better overall prognosis than other forms of lung cancer.
Small emboli, notably those composed of fat or air, occlude capillaries and cause _______
petechiae
What is the diagnosis?
Airway obstruction causes CO2 retention (respiratory acidosis) leading to hypoxemia; PaO2 down, O2 sat down, PaCO2 up
Complications include pulmonary HTN and right ventricular hypertrophy and secondary polycythemia (RBC hyperplasia due to hypoxemia)
Obstructive Sleep Apnea
Obesity is the most common cause
Tonsillar hypertrophy is another cause
First signs of medulloblastoma
symptoms of hydrocephalus, truncal ataxia and wide based gate rapid and regionally infiltrative tumor of the cerebellum
in rare cases pleomorphic adenomas can become malignant resulting in parotid adenocarcinoma. What clinical symptom would be indicative of possible malignancy and why?
diffuse unilateral upper and lower facial pain – facial nerve runs through parotid gland
Name two common extrarenal findings in adults with ADPKD.
Berry aneurysm; Liver cysts
What is the cause of exophthalmos (proptosis) in hyperthyroidism?
Swelling of the extraocular muscles If severe, can include corneal exposure with subsequent ulceration and optic nerve compression
What kind of shunt is PDA?
Although often not causing a large shunt defect, a patent ductus arteriosus can produce a significant murmur and predispose to infection. This left-to-right shunt may eventually result in pulmonary hypertension.
Choriocarcinoma
malignant tumor or cytotrophoblasts and syncytiotrophoblasts
rapid breast enlargement/precocious puberty in younger patients
mimics placental tissue,
villi absent
small and hemorhhagic tumor with early hematogenous spread
b-HCG elevated** due to syncytial cells
poor response to chemo
Intracerebral hemorrhage is bleeding into the brain parenchyma. It’s classically due to:
Rupture of Charcot-Bouchard microaneurysms of the lenticulostriate vessels; complication of HTN;
Volvulus is found in the young in:
Cecum
Folic acid is mostly reabsorbed in
Jejunum
An elevated serum B-type natriuretic peptide (which is measured instead of atrial natriuretic peptide) is consistent with ________
An elevated serum B-type natriuretic peptide (which is measured instead of atrial natriuretic peptide) is consistent with heart failure.
Name the diagnosis:
Arteritis associated with the mucocutaneous lymph node syndrome and predominantly affecting medium and small arteries.
Coronary arteries are often involved.
Aorta and large arteries may be involved.
Usually occurs in infants and young children.
Kawasaki disease
What is croup? What is the most common cause?
inflammation of the upper airway (aka laryngotracheaobronchitis) parainfluenza virus
Name the dx:
Renal retention of phosphate –> hypocalcemia –> bone deformities such as bone pain, fractures, cysts, “brown tumors”
Osteitis fibrosa cystica
due to secondary hyperparathyroidism (from renal insufficiency)
Give the dx:
Glomerular scarring; Initially involves only part of a glomerular tuft;
Segmental obliteration of capillary loops by collagen and increased lipids/proteins;
Cause of nephrotic syndrome in 30% of adults (and 10% of children);
Proteinuria
Focal segmental glomerulosclerosis (FSGS)
**Most common renal complication of IV drug use
Apolipoprotein B-48 dies:
makes chylomicrons (no chylomicrons –> malabsorption) seen in Abetalipoproteinemia
What is the disease? Pathogenic auto-IgG antibodies recognize voltage sensitive calcium channels that are expressed in both the motor nerve terminals and the cells of the associated cancer. These calcium channels are necessary for the release of ACh, thus their destruction is associated with weakness.
Lambert Eaton Myasthenic Syndrome aka myasthenic myopathic syndrome
biopsy of a nasopharyngeal carcinoma would likely show what two histological features?
pleomorphic keratin-positive (poorly differentiated) epithelial cells Background of lymphocytes
What is the most common site for a stroke due to hypertension?
basal ganglia/thalamic area (65%)
Watershed zone most commonly affected by deminished cerebral blood flow (e.g. prolonged hypotension)
overlap zone between terminal branches of middle cerebral and anterior cerebral (watershed zone) - results in parasaggital infarcts
Give the dx:
LACK of immune deposits; periorbital edema; BUN:creatinine >10:1; Oliguria with cloudy brown appearance; focal necrosis in glomeruli with glomerular BM breaks and no crescents; Anti-neutrophil cytoplasmic antibody detected in serum
Pauci-immune crescentic glomerulonephritis
Cases can be idiopathic, associated with ANCAs, and limited to the kidney.
DCIS
does not usually produce a mass
calcification on mammography
Paget Disease indicates underlying carcinoma
Mutations in the lysyl hydroxylase gene
Ehlers-Danlos Syndrome
PJP
Pneumocystis jirovecii (formerly known as Pneumocystis carinii) is classified as a fungus, based on nucleic acid and biochemical analysis. To prevent confusion in the medical community, when using the “pneumonia” abbreviation, P. jirovecii pneumonia is still abbreviated as PCP.
PCP is still the most common AIDS-defining opportunistic infection.
Differential for bilateral parotid gland swelling includes?
Sjogren syndrome; Mumps virus infection; Warthin cysts (15% of cases bilateral)
An elevated D-dimer level suggests:
a microangiopathic hemolytic anemia
What is the diagnosis? Inflammation of the upper airway; Most common cause is parainfluenza virus; Barking cough and inspiratory stridor
Croup aka Laryngotracheobronchitis
Name the dx: Follicular hyperplasia with scalloping of colloid of thyroid gland
Graves disease
Give the diagnosis for the following auto-antibody:
p-ANCA (MPO-ANCA)
Microscopic Polyangiitis
Churg-Strauss syndrome
High lipase is most specific for:
Pancreatitis (moreso than amylase)
What is sialadenitis?
Inflammation of the salivary gland; Most commonly due to an obstructing stone –> staph aureus Usually unilateral
Give the dx: long-standing ulcerative colitis; jaundice; inflammation and obliterative fibrosis of intrahepatic and extrahepatic bile ducts; Beaded biliary tree on radiography
Primary sclerosing cholangitis
Cyanosis is a feature of what pathological cardiac shunt?
Right to left
What is the diagnosis? Notched teeth
Congenital syphilis Treponma Palladium Incisors are notched and tapered like pegs, molars look like mulberries
Give the dx: bilaterally small kidneys with barely visible medullary cysts concentrated at the corticomedullary junction; mutation in NPHP1;
Nephronophthisis; most common genetic cause of end-stage renal disease in children and adolescents; AR
Fatty bone marrow, think:
aplastic anemia fatigue, severe pancytopenia, NO reticulocyte response to the anemia
A 73-year-old woman with hyperhomocystinemia has noted poor circulation in her left leg for the past 2 years. On examination her dorsalis pedis and posterior tibial pulses are barely palpable. CT angiography shows 90% stenosis of the left iliac artery. What procedure would be most effective in treating this woman?
Endovascular stent Endovascular stent placement can be done without major surgery, because the graft can be deployed percutaneously.
Rapidly progressive GN is principally associated with:
Hematuria, crescents
Centrilobular emphysema results from damage to the central part of the lung acinus, with dilation that primarily affects what part of the lung?
Centrilobular emphysema results from damage to the central part of the lung acinus, with dilation that primarily affects the respiratory bronchioles.
HMB-45
marker for melanoma used to diagnose brain metastasis
Name the two medium vessel vasculitides.
Polyarteritis nodosa Kawasaki disease
What is the effect of the following teratogen?
Cocaine
Intrauterine growth retardation;
Placental abruption
What is the dx? A fold of vascularized cornea; grows horizontally in the shape of an insect wing; Not due to an infectious agent
Pterygium Frequently recurs after resection; Often associated with pinguecula
Progressive multifocal leukoencephalopathy (PML) is a destructive disease caused by JC virus. What are the symptoms?
Dementia Visual loss Progressive weakness Can follow cadaveric transplant (due to immunosuppression) Lesions of demyelination near gray-white junction in cerebral hemispheres and brainstem
Enlarged supraclavicular lymph node; common in HIV population; tumor cells express B-cell antigens and are EBV +
Large B-cell lymphoma/high-grade B-cell lymphoma ie Burkitt; bcl2 gene rearrangements often seen, as with follicular lymphoma
Periductal mastitis
inflammation of subareolar ducts smokers subareolar mass with nipple retraction
What is the diagnosis? Arising from pre-existing Barrett esophagus; usually involves lower 1/3 of esophagus lymph node spread commonly celiac and gastric; Malignant proliferation of glands
Adenocarcinoma of the esophagus Most common esophageal carcinoma of the West
Marfan syndrome is a risk for aortic dissection starting in what area of the aorta?
Marfan syndrome is a risk for aortic dissection starting in a dilated ascending aorta.
Ankylosing Spondylitis
HLA-B27 axial skeleton involvement seronegative spondylarthropathy more common in young men uveitis
What is a common cause of death in HD?
Suicide
What is a common cause of Budd-Chiari syndrome?
Hepatocellular carcinoma
Old tx Hep C?
Pegelated interferon and ribavarin
What is the diagnosis? Tumor that originates in the lining of the cavities that contain CSF; Most common site for this tumor is the 4th ventricle –> creates an obstruction which leads to hydrocephalus; Not easily resectable
Ependymoma Cells have an “epithelial” appearance May also originate from the lining of the central canal of the spinal cord and the filum terminale
PAS + hyaline microthrombi in arterioles and capillaries, principally in the heart, brain and kidneys. This indicates what disorder?
TTP thrombotic thrombocytopenic purpura
CAP
Treatment
The treatment of choice for community-acquired pneumonia in a patient with no comorbidities is a macrolide (such azithromycin) or doxycycline.
The indirect antiglobulin (Coombs) test detects:
antibody in the plasma
Peripapical granuloma is the most common sequel to _____
Pulpitis Peripapical granuloma is chronically inflamed periapical granulation tissue
Renin secretion is inhibited by:
Aldosterone
Dx: Epigastric pain that worsens with meals
Gastric ulcer usually located on the lesser curvature of the antrum
What makes a gastric ulcer benign?
Small; punched out appearance; No heaping of mucosa around it or inflammation
Endometrial Carcinoma
most common invasive carcinoma of female genital tract postmenopausal bleeding endometrioid histology - hyperplasia pathway sporadic pathway - papillary serous adenocarcinoma - serous histology (surface epithelium) with psammoma bodies (laminated calcified concretions) p53 mutation common BRCA-1 mutation common
T/F: Smoking protects against ulcerative colitis.
True Smoking increases the risk for Crohn disease
What is the diagnosis?
Child with progressive decline in motor and sensory functions; X-linked disorder; Dysfunction of the adrenal cortex; Demyelination of the nervous system are associated with high levels of saturated very long-chain fatty acids in tissues and body fluid; Body quickly reduced to vegetative state
ALD - Adrenoleukodystrophy
Defect in peroxisomal membrane prevents the normal activation of free fatty acids by the addition of CoA –> fatty acids accumulate in gangliosides and myelin
Chylothorax is a potential complication of what neoplastic process, resulting in widened mediastinum, dyspnea and thoracentesis that shows high protein content; microscopy shows many lymphocytes and fat globules?
Non-Hodgkin lymphoma with lymphatic obstruction
Disruption of the thoracic duct in the posterior chest is most likely to cause chylothorax, and malignant neoplasms, such as a non-Hodgkin lymphoma, are most likely to do this.
Give an example of a type III hypersensitivity rxn in the kidney.
SLE: immune-mediated glomerular injury with antigen-antibody complex deposition –> decreased levels of complement –> nephritis
What is the most common cause of progressive hearing loss in the elderly
Osteosclerosis
A 61-year-old woman has noted increasing dyspnea and a nonproductive cough for 5 months. On physical examination, her temperature is 37.7° C. A chest radiograph shows prominent hilar lymphadenopathy with reticulonodular infiltrates bilaterally. A transbronchial biopsy is performed, and the microscopic findings include interstitial fibrosis and small, noncaseating granulomas. One granuloma contains an asteroid body in a Langhans giant cell. The medical history indicates that she smoked cigarettes for 10 years, but stopped 5 years ago. What is the most likely cause of her illness?
T-cell mediated response to unknown antigen The clinical and morphologic features strongly suggest sarcoidosis. This granulomatous disease has an unknown cause, but the presence of granulomas and activated T cells in the lungs indicates a delayed hypersensitivity response to some inhaled antigen. Lung involvement, occurring in about one third of cases, may be asymptomatic or may lead to restrictive lung disease. Sarcoidosis can involve multiple organs, particularly those of the mononuclear phagocyte system, especially lymph nodes.
Avascular Necrosis
DCS ischemic necrosis of bone, bone marrow can also be caused by trauma children and adolescents can be affected
What is the effect of the following teratogen?
Isotretinoin
Spontaneous abortion;
hearing and visual impairment
t(11;14) translocation, in which the cyclin D1 gene (BCL1) is overexpressed, is seen in:
Mantle cell lymphoma B-cell lymphoma, more aggressive than follicular lymphoma
Incubation period Heb A:
3-4 wks Prodrome is low grade temp, nausea, anorexia, fatigue, mylagia, malaise
Persistent epidermal hyperplasia; chronic, runs in families; erythematous, scaly plaques, commonly on the dorsal extensor cutaneous surfaces; *Neutrophils* migrate into epidermis
Psoriasis
Most common cause of death from ALS
respiratory insufficiency ALS is a degenerative disease of motor neurons of the brain and spinal cord (atrophy of ventral roots, motor cortex, and motor nuclei in brainstem) that results in weakness and wasting of the muscles of the hands (can be unilateral) accompanied by fasciculations and pain from muscle wasting, rapid decline and death, usually in 6 years or less
Children with medulloblastoma are first seen with what neurologic symptoms?
Cerebellar dysfunction (gait and balance); Hydrocephalus
What is the most common source of group B strep and E coli infection that leads to meningitis in neonates
exposure in vaginal canal during delivery group B strep is tested in 3rd trimester for prophylaxis
Dx: Longstanding cholelithiasis; Rokitansky-Aschoff sinuses; Vague RUQ pain (esp after eating)
Chronic cholecystitis
Name the dx: Most common tumor of the thyroid; Patient is euthyroid; Benign; Isolated small nodule; Proliferation of thyroid follicles
Follicular adenoma
Name the dx: Verrucae or condylomata; Can be on the shaft of the penis; Epidermal hyperkeratosis, paraketasosis, acanthosis, papillomatosis
HPV (genital warts); Can cause penile cancer
Hemolytic Uremic Syndrome is classically seen in children with what infection?
E. Coli O157:H7 - dysentery from undercooked beef Verotoxin damages endothelial cells –> HUS –> Microangiopathic Hemolytic Anemia *Renal insufficiency common in HUS
Reidel thyroiditis
Riedel thyroiditis is characterized by destructive thyroid fibrosis that can cause a hypothyroid state in the patient.
The dense fibrosis can extend into the adjacent tissues, producing neck tightness or pressure, dyspnea, dysphagia, hoarseness, choking, and coughing.
Riedel thyroiditis may mimic malignancy and usually produces “rock-hard,” painless goiter.
Patients with Riedel thyroiditis can also have fibrosclerotic disease in other organs including pancreas, liver, kidney, and salivary gland tissue.
Give the dx: Proteinuria from effacement of the visceral epithelial cell foot processes; NO morphologic abnormalities seen by light microscopy; most common cause of nephrotic syndrome in children; Fusion of foot processes can be seen on EM;
Minimal change disease (aka lipoid nephrosis); Treat with corticosteroids; Will not progress to renal failure
Jarisch-Herxheimer reaction
The Jarisch-Herxheimer reaction is characterized by an acute febrile reaction that is often associated with headache and myalgias within the first 24 hoursof treatment.
Endotoxin (bacterial lipopolysaccharide) causes its pathology by the direct stimulation of macrophages, which results in the overproduction of macrophage mediators such as interleukin (IL)-1, IL-6, and tumor necrosis factor (TNF)-alpha.
Endotoxin is bound to macrophages by CD14, the endotoxin receptor. IL-1 and IL-6 are pyrogens, responsible for fever (IL-1) and the acute-phase response (IL-6).
Occlusion of the vertebral artery results in infarcts in what part of the brain?
Cerebellum
Raised, erythematous nodular lesions; often on anterior shins; commonly associated with coccidiomycosis
Erythema nodosum
A positive P-ANCA (MPO) result suggests what disease?
A positive P-ANCA (MPO) result suggests microscopic polyangiitis
Name the dx: Congenital absence of testes.
Anorchia
Scalded child syndrome is caused by:
staph aureus exfoliatin toxin
Dx: “Leather bottle” appearance of thickened stomach; no true tumor seen; Extensive fibrosis in the submucosa and muscularis of the stomach wall; Signet ring cells
Linitis plastica (when the entire stomach is involved) - gastric adenocarcinoma Poor prognosis
Give the dx: Facial edema; Headaches, malaise, dizziness; Oliguria; Hematuria; HTN; Usually seen in children who have recently been ill; Subepithelial and subendothelial depositsof complement that look like “humps”
Nephritic syndrome from poststreptococcal glomerulonephritis
Nitrite positive sources of UTI
Enterobacter sp.
Escherichia coli
Klebsiella pneumoniae
and Proteus mirabilus
can cause urinary tract infections and are members of the Enterobacteriaceae, which would be nitrite-positive
Genetic (AD); mild hyperkeratosis and reduced or absent keratohyaline granules in the epidermis; scaly skin results from increased cohesiveness of the stratum corneum
Ichthyosis vulgaris
CD3 is a:
T-cell marker
Dx: Fistula formation between gall bladder and small bowel; Gallstone enters and obstructs the small bowel
Gallstone ileus
A 3-year-old child from Osaka, Japan, has developed a fever and a rash and swelling of her hands and feet over the past 2 days. On physical examination, her temperature is 37.8° C. There is a desquamative skin rash, oral erythema, erythema of the palms and soles, edema of the hands and feet, and cervical lymphadenopathy. The child improves after a course of intravenous immunoglobulin therapy. What is most likely to be a complication of this child’s disease if it is untreated?
Mucocutaneous lymph node syndrome, or Kawasaki disease, involves large, medium-sized, and small arteries. Cardiovascular complications occur in 20% of cases and include thrombosis, ectasia, and aneurysm formation of coronary arteries.
Malignant lymphoma of the testes occurs in what population?
> 60 years; usually in the context of systemic disease (not usually primary); poor prognosis
Dx: Acidic damage to mucosa due to imbalances between mucosal defenses and acidic environment
Acute gastritis
Congenital failure of cerebellar vermis to develop resulting in massively dilated 4th ventricle very diminished or absent cerebellum; often accompanied by hydrocephalus.
Dandy-Walker malformation
TdT is a marker of:
pre–T cells and pre–B cells
Must test what to dx Hep C?
Hep C Ab; can’t tell from AST/ALT because it’s normal
What is the diagnosis? Malignant, high-grade astrocyte tumor; “Butterfly” lesion because tumor arises in the cerebrum and crosses corpus callosum; tumor cells are GFAP positive
Glioblastoma Multiforme
A 50-year-old man cuts his right index finger on a sharp metal shard while cleaning debris out of the gate in an irrigation canal. The cut stops bleeding within 3 minutes, but 6 hours later he notes increasing pain in the right arm and goes to his physician. On physical examination, his temperature is 38° C. Red streaks extend from the right hand to the upper arm, and the arm is swollen and tender when palpated. Multiple tender lumps are noted in the right axilla. A blood culture grows group A β-hemolytic streptococcus. What process is occurring in this patient’s right arm?
Lymphangitis
The red streaks represent lymphatic channels through which the acute infection is draining to axillary lymph nodes, and these nodes drain to the right lymphatic duct and into the right subclavian vein (lymphatics from the lower body and left upper body drain to the thoracic duct).
Give the diagnosis for the following auto-antibody:
c-ANCA (PR3-ANCA)
Granulomatosis with Polyangiitis
DM causes what kidney changes?
Nodular hyaline mesangial deposits - diabetic nephropathy A diabetic patient with nephrotic syndrome is likely to have nodular (and diffuse) glomerulosclerosis or diffuse thickening of the basement membrane.
What is the diagnosis? Nonbacterial vegetations on the undersurface of the mitral valve; Fibrinoid necrosis of small vessels; Focal degeneration of interstitial tissue
Libman-Sacks endocarditis; Associated with SLE ANA+ anti-DS-DNA+
Syphilis (positive VDRL test result) produces endarteritis obliterans of the:
Syphilis (positive VDRL test result) produces endarteritis obliterans of the aortic vasa vasorum, which weakens the wall and predisposes to aortic aneurysm formation.
An epidemiologic study shows that a highly pathogenic strain of influenza A virus with the antigenic type H5N1 that normally causes disease in birds has been increasingly found to cause influenza in humans. Unlike other strains of influenza A virus, this H5N1 virus is associated with a 60% mortality rate. The enhanced pathogenicity of this avian flu virus is primarily due to mutation in its genome that enables it to do what?
Enter many types of host cells H5N1 virus has much broader tissue tropism because its hemagglutinin can be cleaved by proteases present in many tissues.
What is the diagnosis? Malignant tumor composed of mucinous and squamous cells; Most common malignancy of the salivary gland; Involves facial nerve; Usually arises in parotid
Mucoepidermoid Carcinoma
A 46-year-old man has noted increasing abdominal enlargement over the past 15 months. Physical examination shows multiple skin lesions on the upper chest that have central pulsatile cores and measure, from core to periphery, 0.5 to 1.5 cm. Pressing on a core causes a radially arranged array of subcutaneous arterioles to blanch. Laboratory studies show serum glucose of 112 mg/dL, creatinine of 1.1 mg/dL, total protein of 5.8 g/dL, and albumin of 3.4 g/dL. What underlying diseases is most likely to be present in this patient?
Micronodular cirrhosis Spider telangiectasias are a feature of micronodular cirrhosis, typically as a consequence of chronic alcohol abuse. They are thought to be caused by hyperestrogenism (estrogen excess) that results from hepatic damage with reduced clearance of circulating steroids.
Charcot-Leyden crystals represent the breakdown products of ________.
The Charcot-Leyden crystals represent the breakdown products of eosinophil granules. Asthma, particularly extrinsic (atopic) asthma, is driven by a type I hypersensitivity response and is associated with an excessive TH2 and TH17 cell-mediated immune response. Genetic factors are important in the pathogenesis of atopic asthma and linkage to cytokine genes that map on 5q are strongly associated with development of asthma and other atopic allergies.
The development of polyneuropathy in patients with T2DM (and T1DM) results from:
Hyperglycemia
A Cushing ulcer (increased intracranial pressure) is a risk factor for:
Acute gastritis Cushing ulcer (increased intracranial pressure) –> increased vagal stimulation
Name the dx: Large masses of the thyroid gland; Poorly circumscribed; Frequently extends into the soft tissue of the neck
Anaplastic carcinoma of the thyroid
What is the diagnosis? Degenerative disorder of the cerebellum and spinal cord; Subsequent ataxia; Loss of vibratory sense and proprioception, muscle weakness in the lower extremities, loss of deep tendon reflexes; Presents in early childhood; Complication is hypertrophic cardiomyopathy
Friedreich Ataxia Autosomal recessive; expansion of unstable trinucleotide repeat (GAA) in the frataxin gene
What Apo allele is associated with DECREASED risk for Alzheimer’s Disease?
E2 E4 - increased risk
can cause death secondary to truama resulting in diffuse lesions/petechia in white matter
fat emboli - primarily affect capillaries - high density of capillaries at white matter/grey matter interface
Steroids have what role in Hep A tx?
None
Name the disorder characterized by:
- Pathologic formation of platelet microthrombi in small vessels
- Schistocytes
- Associated with thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS)
- Labs: Thrombocytopenia Increased bleeding time Normal PT/PTT Anemia w/ schistocytes
- High megakaryocytes in bone marrow
Microangiopathic Hemolytic Anemia
Name the dx: Soft, shiny, erythematous plaques on the glans and foreskin
Erythroplasia of Querat A carcinoma in situ of the penis
Vesicles that rupture and result in shallow painful red ulcers - often occurring on the lips. What is it what causes it?
Reactivation of HSV-1 inefection that caused by stress or exposure to sunlight
T/F: Diffuse large-cell lymphoma of B cells often involve extranodal sites.
True aggressive but responsive to chemotherapy;
An experiment studies early atheroma development. Lipid streaks on arterial walls are examined microscopically and biochemically to determine their cellular and chemical constituents and the factors promoting their formation. Early lesions show increased attachment of monocytes to endothelium. The monocytes migrate subendothelially and become macrophages; these macrophages transform themselves into foam cells. What substance is most likely to be responsible for the transformation of macrophages?
Oxidized LDL –can be taken up by a special “scavenger” pathway in macrophages; it also promotes monocyte chemotaxis and adherence. Macrophages taking up the lipid become foam cells that begin to form the fatty streak. Smoking, diabetes mellitus, and hypertension all promote free radical formation, and free radicals increase degradation of LDL to its oxidized form. About one third of LDL is degraded to the oxidized form; a higher LDL level increases the amount of oxidized LDL available for uptake into macrophages.
Name the dx: Most frequent cause of hyperthyroidism in young adults; Diffuse goiter, exopthalmous; stimulating IgG antobodies that bind to TSH receptors on the pm of thyrocytes
Graves disease
Auer rods are seen in myeloblasts in:
AML
The most common sites for ___________ are the thyroid (in Hashimoto thyroiditis), the salivary glands (in Sjögren syndrome), or the stomach (in Helicobacter pylori infection).
MALT - marginal zone - lymphoma
What is the dx?
Increasing night blindness; Constriction of the peripheral visual field; Loss of retinal photoreceptors; Pigment accumulation within the retina
Retinitis pigmentosa
runs in families
How do children with Reye syndrome present?
Hypoglycemia; Elevated liver enzymes; Nausea and vomiting
What is the likely diagnosis? skin eruptions; frequent recent ear infections; bone lesions with “Birbeck” granules in histiocytes; seen in children; exophthalmous sometimes seen, leading to diabetes insipidus from pressure on pituitary stalk
Langherhans cell histiocytosis
Lesion on dorsal surfaces of hands or feet; 1 or multiple; no malignant potential; Papules bleed easily; Epithelial-lined fronds with fibrovascular cores
Verruca vulgaris - common wart; HPV-2, HPV-4, other HPVs
“smudge cells” think
CLL chronic lymphocytic leukemia
Name the diagnosis: HTN, hypernatremia and hypokalemia due to aldosterone secretion; Severe HA, weakness and dizziness
Conn syndrome
Adrenal cortical adenoma
Cause of compression of midbrain, CNIII, PCA, parasympathetic fibers that results in Duret hemorrhages, down and out dilation (mydriatic) with hemmoragic infarction of occipital lobe
Uncal herniation (medial temporal lobe pushes through tentorium cerebelli)
Leptomeningitis refers to an inflammatory process localized to the:
pia and arachnoid
Haptoglobin is:
a serum protein that binds to free hemoglobin. Ordinarily, circulating hemoglobin is contained within RBCs, but hemolysis can release free hemoglobin. The haptoglobin is used up as the amount of free hemoglobin increases.
Osteoporosis
reduction in trabecular bone mass DIP > PIP involvement porous bone, fracture risk labs normal postmenopausal women –> estrogen withdrawal –> increased # of osteoclasts (type 1) OR, decreased osteoblast activity (type 2)
Ventricular fibrosis with ventricular wall thinning can be caused by what infection?
Chagas disease
What is the result of hyperinsulinemia secondary to insulin resistance in T2DM?
Downregulation of the number of insulin receptors on the plasma membrane.
Chronic gastritis is what type of hypersensitivity reaction?
Type 4 T-cell mediated damage antibodies against parietal cells or intrinsic factor
Anti–glomerular basement membrane (anti-GBM) disease Cryoglobulinemic vasculitis (CV) IgA vasculitis (Henoch-Scho ̈nlein) (IgAV) Hypocomplementemic urticarial vasculitis (HUV) (anti-C1q vasculitis) These all make up what kind of vasculitides?
Small vessel vasculitis Immune complex SVV
Pancytopenia; splenomegaly; peripheral blood smear reveals atypical lymphoid cells displaying tartare-resistant acid phophatase activity
Hairy cell leukemia; clonal B-cell proliferation of small to medium lymphocytes that exhibit lots of cytoplasm and hair-like protrusions on the cell membrane; bone marrow-spleen-liver; middle-aged to elderly, male:female ratio is 5:1
Central pontine myelinolysis is a rare demyelinating disorder of the pons seen in what population?
Alcoholics
Older patients with nontoxic goiter sometimes go on to develop:
Hyperthyroidism
Hydrocephalus in a neonate associated with seizures and periventricular calcifications. Histology shows pink intranuclear/intracellular inclusions. What was the cause?
Vertical transmission of Cytomegalovirus accross the placenta in utero. TORCH = Toxoplasmosis, Rubella, Cytomegalovirus, Herpes simplex
The most important histologic feature of Mycosis Fungoides (CTCL) is:
the presence of lymphocytes in the epidermis aka epidermotropism
Recurrent urinary tract infections with urea-splitting organisms such as Proteus can lead to formation of:
Magnesium ammonium phosphate stones known as “staghorn calculi”
Parietal epithelial cells line the Bowman capsule and may proliferate with severe glomerular injury to produce:
crescents
Ingestion of strong acids produces what kind of reaction?
Coagulative necrosis in the esophagus –> protective eschar that limits injury and further chemical penetration Dx: chemical esophagitis
tumor derived from endothelial cells; painful, purple nodules on hands and/or feet; neoplastic cells, poorly demarcated lesion
Kaposi’s sarcoma
Poliomyelitis due to poliovirus results in flaccid paralysis and muscle atrophy, fasciculations, impaired reflexes and a negative Babinski sign (lower motor neuron signs). Where is the damage in the spinal cord?
Degeneration of anterior motor horn
Name the diagnosis: Full-thickness defect of lip or palate; Failure of facial prominences to close.
Cleft lip and palate They usually occur together
The rapid plasma reagin test is used to diagnose ______
The rapid plasma reagin test is used to diagnose syphilis
A 33-year-old woman from Victoria, British Columbia, goes to the physician because of increasingly severe dyspnea, orthopnea, and swelling of the legs for the past 2 weeks. She has no previous history of serious illness or surgery. On physical examination, her temperature is 37.8° C, pulse is 83/min, respirations are 20/min, and blood pressure is 100/60 mm Hg. An ECG shows episodes of ventricular tachycardia. An echocardiogram shows right and left ventricular dilation, but no valvular deformities. An endomyocardial biopsy shows focal myocyte necrosis and lymphocytic infiltrate. What organism most likely caused the infection?
Coxsackie A virus Focal myocardial necrosis with a lymphocytic infiltrate is consistent with viral myocarditis. This is uncommon, and many cases may be asymptomatic. In North America, most cases are caused by coxsackieviruses A and B. This illness may often be self-limited. Less often, it ends in sudden death or progresses to chronic heart failure.
What is the diagnosis? Right ventricular hypertrophy and dilation secondary to pulmonary hypertension; often arises from COPD
Cor pulmonale (Pulmonary stenosis is a rare cause of cor pulmonale)
Fatal infantile disease associated with autosomal recessive diffeciency in galactocerebrocide beta-galactosidases
Krabbe disease
What is the diagnosis? Degenerative disease of the frontal and temporal cortex; Spares the parietal and occipital lobes
Pick Disease
Cotton-wool spots are seen in what patient populations?
Diabetics and patients with HTN Fluffy white patches on the retina
What are the risk factors for laryngeal carcinoma?
Cigarette smoking Alcohol use HPV 6 and 11 Majority on true vocal cords and are keratinizing SCC Presents with persistent hoarseness and cervical lymphadenopathy
Most invasive urothelial cell carinomas arise from:
carcinoma in situ
the presence of peroxidase-positive blasts (myeloblasts) filling the marrow indicates what disease?
AML
Uncommon causes of pancreatitis:
Trauma; Hypercalcemia (calcium is an activator of enzymes) and hyperlipidemia; Drugs; Mumps; Scorpion sting; Rupture of posterior duodenal ulcer
Name the diagnosis: Recurrent aphthous ulcers Genital ulcers Uveitis Immune complex vasculitis involving small vessels
Behcet’s Syndrome
Give an example of a type II hypersensitivity rxn in the kidney.
Goodpasture syndrome, other anti-glomerular BM diseases
Biopsy, ie of stomach, reveals extranodal lymphocytic infiltrate invading glandular tissue; Cancer originates in mucosa-associated lymphoid tissue; H. Pylori-associated, commonly arise in the context of chronic inflammation or autoimmunity
MALT lymphoma/Marginal zone lymphoma cell proliferation of small to medium lymphocytes; appear to originate from marginal-zone B-cells
x-linked inborn error of metabolism high levels of long-chain fatty acids in tissues and body fluids dysfunctional adrenal glands and bilaterally symetric demyelination, gliosis, and perivascular lymphocytic infiltrates Disease is _____ caused by ____
Adrenoleukodystrophy caused by defective peroxisomes
Marked leukocytosis and immature myeloid cells in the peripheral blood can represent an exaggerated response to infection (leukemoid reaction), or it can be a manifestation of ________.
CML Normal maturation of myeloid cells in the marrow rules out CML.
Plexiform lesions of the lung are characteristic for _________
Plexiform lesions are characteristic for pulmonary hypertension.
Give the dx: Malaise and periorbital edema; Afebrile; Proteinuria but no hematuria or gluccosuria; Numerous oval fat bodies seen on u/a; elevated serum creatinine; no improvement on steroid therapy; 50% affected glomeruli
FSGS Manifests with nephrotic syndrome; May be linked with NPHS gene mutations
A 25-year-old man suffers a sudden cardiac arrest. He is resuscitated. On examination his vital signs are normal. Echocardiography shows that the left ventricle is normal but there is marked thinning with dilation of the right ventricle. MR imaging of his chest shows extensive fibrofatty replacement of the myocardium, but no inflammation. What is the most likely cause for his findings?
Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia) is most likely an autosomal dominant inherited condition with abnormal desmosomal adhesion proteins in myocytes.
Osteoma
Gardner syndrome benign tumor surface of facial bones
Dx: Persistent herniation of the bowel into the umbilical cord; Failure of herniated intestines to return to the body cavity during development;
Omphalocele Covered by peritoneum and amnion (how you can tell the difference between omphalocele and gastroschisis)
Give the dx: WBC casts in the urine; Most commonly caused by E. Coli (gram-negative); Bacteriuria; Diabetic patients are at increased risk; Patients present with fever, chills, malaise and flank pain
Pyelonephritis
What kind of cell is abundant in parathyroid neoplasm?
Chief cell
Multiple sclerosis is associated with what HLA?
HLA-DR2
Name the dx: C-cell-derived medullary thyroid carcinoma and chromaffin cell-derived pheochromocytoma; Hirschsprung disease (congenital megacolon); Variety of neural crest tumors; Elevated serum levels of PTH possible causing fractures
MEN-2A aka Sipple syndrome Mutations in RET protooncogene
Krukenberg Tumor
metastatic mucinous tumor from GI cancer (gastric adenocarcinoma) involves both ovaries “signet ring” cell appearance pseudomyxoma peritonei - massive amounts of mucus in the peritoneum (from tumor of appendix)
Virus type Heb B
DS DNA enveloped
Name the responsible pathogen: Lobar pneumonia Productive cough with purulent sputum High percentage of neutrophils
Streptococcus pneumoniae
symptoms of hydrocephalus in children
vomiting, sleepiness/lethargy, irritability, downward deviation of the eyes (also called “sunsetting”), and seizures
What is the dx? Cotton-wool spots; Capillary closure; Microaneurysms; Retinal neovascularization
Diabetic retinopathy
Narrowing or occlusion of retinal arterioles from arteriosclerosis or platelet and lipid thrombi –> ischemia
ZE syndrome causes:
Duodenal ulcers
Associate what diseases with Crohn disease?
Ankylosing spondylitis;
Sacrolitis;
Migratory polyarthritis;
Erythema nodosum;
Uveitis
What are teardrop RBC’s?
Teardrop RBCs are misshapen RBCs that are seen when marrow undergoes fibrosis, as in myelofibrosis. Myelofibrosis with myeloid metaplasia is a myeloproliferative disorder that is also a stem cell disorder in which neoplastic megakaryocytes secrete fibrogenic factors leading to marrow fibrosis.
Hand-Schuller-Christian disease
young children (2-5)
proliferation of Langerhans cells
radiolucent bony lesions
lesion may produce exopthalmos
infiltration of the hypothalamic stalk
can lead to DI weepy skin lesions ie at hairline
Lethal complication of multiple myeloma:
renal failure
Development of recurrent hematuria after a viral illness in a child or young adult is typically associated with
IgA nephropathy A renal biopsy specimen will show diffuse mesangial proliferation and electron-dense deposits in the mesangium. In these patients, some defect in immune regulation causes excessive mucosal IgA synthesis in response to viral or other environmental antigens. IgA complexes are deposited in the mesangium and initiate glomerular injury.
Adenocarcinoma in situ (AIS) presents often as:
Single lesion Well differentiated Mistaken for pneumonia initially Often peripheral
When do tropinin I levels rise after MI?
Troponin I levels begin to increase at about the same time as CK and CK-MB, but remain elevated for 7 to 10 days.
Tense bullae
Bullous pemphigoid
Name the diagnosis corresponding to this autoantibody:
Anti-Jo-1, anti-SRP, anti-Mi-2
Polymyositis, Dermatomyositis
reddish plaque on tongue that cannot be scraped away . What is this? What is it a strong indicator of? Is it cancerous, pre-cancerous or benign?
Erythroplakia squamous cell dysplasia of the oral mucosa per-cancerous ==> can lead to squamous cell carcinoma Alcohol and tobacco are biggest risk factors
Skin issue associated with gluten hypersensitivity
dermatitis herpetiformis
Poliovirus has tropism for what part of the brain?
Brainstem nuclei
A 50-year-old man has had a chronic cough for the past 18 months. Physical examination shows nasopharyngeal ulcers, and the lungs have diffuse crackles bilaterally on auscultation. Laboratory studies include a serum urea nitrogen level of 75 mg/dL and a creatinine concentration of 6.7 mg/dL. Urinalysis shows 50 RBCs per high-power field and RBC casts. His serologic titer for C-ANCA (proteinase 3) is elevated. A chest radiograph shows multiple, small, bilateral pulmonary nodules. A transbronchial lung biopsy specimen shows a necrotizing inflammatory process involving the small peripheral pulmonary arteries and arterioles. What is the most likely diagnosis?
GPA, Granulomatosis with polyangiitis Anti–neutrophil cytoplasmic autoantibody (ANCA)–associated vasculitis (granulomatosis with polyangiitis) is a form of hypersensitivity reaction to an unknown antigen characterized by necrotizing granulomatous inflammation that typically involves small to medium-sized vessels, although many organ sites may be affected. Pulmonary and renal involvement can be life-threatening. C-ANCAs (antibodies mainly directed against neutrophil proteinase 3) are found in more than 90% of cases.
Quadrivalent HPV vaccine
6, 11, 16, 18
Give an example of a type II crescentic GN.
Immune complex disease: Type II crescentic GN can occur in systemic lupus erythematosus, in Henoch-Schönlein purpura, and after infections.
What leads to injury to pancreatic cells in T1DM?
Cell-mediated immunity: Cytotoxic T lymphocytes sensitized to beta cells are the real reason for beta cell destruction. The antibodies come as a result of the damaged cells.
What is the diagnosis? Women; painless movable mass at the angle of the jaw; may become malignant epithelial cells intermixed with myxomatous and cartilaginous stroma
Pleomorphic adenoma
Lacunar stroke is due to:
Hyaline arteriosclerosis Most commonly involves the lenticulostriate vessels, resulting in small, cystic areas of infarction; involvement of the internal capsule = pure motor stroke; involvement of the thalamus = pure sensory stroke
Besides gout, in what diagnoses is hyperuricemia seen?
Leukemias and lymphomas that have a high proliferative rate and are treated with chemotherapy
Infection with the liver fluke Clonorchis sinensis predisposes to what kind of cancer?
Cholangiocarcinoma
version of Lagherhans Cell Histiocytosis seen in children 2-5; classic triad of: diabetes insipidus, proptosis, defects in membranous bones
Hand-Schuller-Christian disease typically multifocal and indolent otitis media is a common finding painful lytic bone lesions common
A 45-year-old man has had poorly controlled hypertension ranging from 150/90 mm Hg to 160/95 mm Hg for the past 11 years. Over the past 3 months, his blood pressure has increased to 250/125 mm Hg. On physical examination, his temperature is 36.9° C. His lungs are clear on auscultation, and his heart rate is regular. There is no abdominal pain on palpation. A chest radiograph shows a prominent border on the left side of the heart. Laboratory studies show that his serum creatinine level has increased during this time from 1.7 mg/dL to 3.8 mg/dL. What vascular lesions is most likely to be found in this patient’s kidneys?
Necrotizing arteriolitis Malignant hypertension can suddenly complicate and be superimposed on less severe, benign essential hypertension. The arterioles undergo concentric thickening and luminal narrowing with malignant hypertension, called hyperplastic arteriolosclerosis, and fibrinoid necrosis is a prominent feature.
What is the diagnosis? Congenital downward displacement of cerebellar vermis and tonsils through the foramen magnum; Obstruction of CSF flow commonly results in hydrocephalus; Often seen with meningomyelocele
Arnold-Chiari Malformation (Type II)
What is the most common cause of bacterial meningitis in neonates?
Group B strep, E coli, Listeria monocytogenes
Oval, uniformly pigmented macular lesion
Junctional nevus
Erythematous, annular plaque
Granuloma annulare
Name the diagnosis corresponding to this autoantibody:
Antimitochondrial
Primary biliary cirrhosis
T/F ALS usually appears in mid-adulthood and is typically not caused a genetically inherited mutation
True – SOD1 mutation is present in a fraction of familial cases but these are a vast minority of total ALS cases
How are neural tube defects usually detected during pregnancy?
elevated AFP levels in amniotic fluid or maternal blood
What is the treatment for pyloric stenosis?
Myotomy
What is the diagnosis? Atrophy of type I muscle fibers; Hypertrophy of type II muscle fibers
Myotonic dystrophy
Antiphospholipid antibodies pose a risk for _______.
Antiphospholipid antibodies pose a risk for thrombosis. Over half of persons with chronic pulmonary thromboembolism with pulmonary hypertension do not have a history of recurrent pulmonary embolism.
Dohle bodies or toxic granulation in mature neutrophils on peripheral blood smear
Leukemoid reaction Benign alk phos HIGH in leukemoidrxn, LOW in CML CML would not have mature neutrophils….
What differentiates neurofibromatosis type I vs type II?
Both have neurofibromas but only type 2 has acustic neuromas - intracranial shwannoma of the 8th cranial nerve
Primary Sclerosing Cholangitis carries increased risk for what cancer?
Cholangiocarcinoma (bile ducts)
Symmetrically smaller kidneys are seen in:
Chronic GN; often no inciting cause; surfaces of kidneys become granular; HTN develops due to renal ischemia
45 YO chinese pt. presents with swollen cervical lymph node, blood in saliva, bloody discharge from the nose, nasal congestion, hearing loss, frequent ear infections, headaches. What is a likely diagnosis? What might have caused this?
nasopharyngeal carcinoma secondary to EBV infection
What is the diagnosis? Paraneoplastic disorder (usually associated with small cell carcinoma of the lung; Muscle weakness/wasting/fatigability; Responds to corticosteroid treatment;
Lambert Eaton Myasthenic Syndrome aka myasthenic myopathic syndrome
A 20-year-old, previously healthy man is jogging one morning when he trips and falls to the ground. He suddenly becomes markedly short of breath. On examination in the emergency room there are no breath sounds audible over the right side of the chest. A chest radiograph shows shift of the mediastinum from right to left. A chest tube is inserted on the right side, and air rushes out. What underlying disease is most likely to have produced this complication?
Distal acinar emphysema Distal acinar (paraseptal) emphysema is localized, beneath pleura typically in an upper lung lobe, and may occur in an area of fibrosis or scar formation. Although the lesions are usually less than 2 cm in diameter, they are prone to rupture spontaneously or with minor trauma, leading to pneumothorax. They can be a cause for spontaneous pneumothorax in young adults. A “ball valve” effect can lead to air trapping in pleura, producing tension pneumothorax, as in this case.
What is the diagnosis? Focal demyelination of the pons; Can result in “locked-in” syndrome (bilateral paralysis); Can be due to rapid correction of hyponatremia;
Central Pontine Myelinolysis
Bronchial dilation with inflammatory destruction is a feature of _________.
Bronchial dilation with inflammatory destruction is a feature of bronchiectasis.
Sertoli-Leydig cell tumor
hirsutism virilization sex-cord stromal tumors
Defining histological change in the brain from ALS
loss of motor neurons, atrophy of motor cortex, gliosis
HPV E6 protein
increased destruction of p53
Atypical lymphocytes are characteristic in the peripheral blood of individuals with:
infectious mononucleosis
Lumbar puncture in the diagnosis of MA would reveal?
Increased lymphocytes; Myelin basic protein; Increased immunoglobulins with oligoclonal IgG bands on high resolution electrophoresis
Uncorrected VSD carries what complication?
Pulmonary HTN
What is the main culprit of meningitis in newborns?
E. Coli
What is the diagnosis? Syndrome; Bilateral tumors of the 8th cranial nerve (acoustic neuromas); meningiomas and gliomas common;
Neurofibromatosis type 2
Dx: Serrated appearance on microscopy; Most common type of polyp; Usually in L colon (rectosigmoid); Benign
Hyperplastic polyp
Hyperplasia of glands
Cancerous = adenomatous polyp
Common causes of pancreatitis
Alcoholism; Gallstones from contraction of sphincter of Oddi
Neuroendocrine tumors such as carcinoid tumors are positive for:
Chromogranin
hereditary disorder in which cerebellar hemangioblastomas are associated with retinal angiomas and other turmors like renal cell carcinoma
von-hippel lindau syndrome
What is the diagnosis? Longitudinal laceration of mucosa at the GE junction; Caused by severe vomiting (alcoholism, bulimia implicated here); *Painful* hematemesis
Mallory-Weiss syndrome risk of Boerhaave syndrome due to laceration: rupture of esophagus leading to air in the mediastinum and subcutaneous emphysema
What is the dx? Fundoscopy reveals flame-shaped hemorrhages; elevated intraocular pressure
Retinal occlusive vascular disease - central retinal vein occlusion
What would you expect to see on urinalysis of a patient with SLE and nephritic syndrome?
RBC casts, RBCs
The lymphocyte depletion variant of Hodgkin lymphoma has what features?
an abundance of Reed-Sternberg cells and a paucity of lymphocytes.
15% of patients with myasthenia gravis have ______
thymoma 1/3 pf patients with thymoma will develop MG
What is the diagnosis? Impaired addition of Co-A to long chain fatty acids; X-linked
Adrenoleukodystrophy Accumulation of fatty acids damages adrenal glands and white matter of the brain.
Name the diagnosis: Necrotizing vasculitis, with few or no immune deposits, predominantly affecting small vessels (i.e., capillaries, venules, arterioles, and small arteries), associated with myeloperoxidase (MPO) ANCA or proteinase 3 (PR3) ANCA. Not all patients have ANCA. Add a prefix indicating ANCA reactivity, e.g., MPO-ANCA, PR3-ANCA, ANCA- negative.
ANCA-associated vasculitis (AAV)
Give the dx: Malaise, nausea and reduced urine output for 3 days; Afebrile, normotensive; creatinine 7.5; Hematurea, no pyuria or glucosuria; renal biopsy shows crescents
Rapidly progressive GN Crescentic GN is divided into three groups on the basis of immunofluorescence: type I (anti–glomerular basement membrane [GBM] disease); type II (immune complex disease); and type III (characterized by the absence of anti-GBM antibodies or immune complexes).
Effacement of the foot processes seen in minimal change disease results in:
Selective proteinuria for low molecular weight proteins, for example, albumin
Rhabdomyosarcoma
most common malignant soft tissue tumor in children rhabdomyoblast desmin + head and neck common, vagina in young girls common
Name the disease associated with the presence of hairy projections from neoplastic leukocytes in the peripheral blood smear and coexpression of B-cell (CD19, CD20) and monocyte (CD11c) markers.
Hairy cell leukemia B-cell leukemia
Linear array of suppurating subcutaneous nodules
lymphocutaneous sporotrichosis
Complications of acute pancreatitis
Shock; DIC ARDS Pancreatic abscess Pancreatic pseudocyst
What is the diagnosis? “Sulfur granules” in pus contain gram + branching filamentous anaerobic bacteria ; often follows extraction of an abscessed tooth
Cervicofacial actinomycosis Actinomyces israelii
The CD30 antigen is a marker for:
activated T and B cells
Dx: Congenital malformation of the abdominal wall, leads to exposure of abdominal contents
Gastroschisis
Fine needle aspirate of bone reveals numerous eosinophils; Otitis media is a common finding; scalp bone pain; Calvarial bone defects; Exopthalmous possible
Langerhans cell histiocytosis
What is the diagnosis? Baby turns blue when breast feeding, cannot breathe through nose
Choanal Atresia Can be unilateral or bilateral or membranous septum between nose and pharynx
What is the exotoxin responsible for the development of poststreptococcal glomerulonephritis?
Pyogenic exotoxin B (SpeB) Most children with poststreptococcal GN recover, although 1% develop a rapidly progressive GN characterized by crescent formation. Progression to chronic renal failure occurs in 40% of affected adults.
Thecoma
postmenopausal women functional ovarian tumor estrogen production yellow on gross exam lipid-laden theca cells endometrial hyperplasia common, can progress to cancer
Necrosis of pyrimidal neurons of Sommer’s sector in the hippocampus occurs as a consequence of:
global anoxia
What is a complication of repeated bouts of rhinitis?
Nasal polyps
What is the diagnosis? Benign tumor of astrocytes; Usually arises in the cerebellum; Imaging reveals a cystic lesion with a mural nodule; Biopsy shows Rosenthal fibers; Cells are GFAP positive
Pilocytic astrocytoma
Name the dx: Seen in children; Edematous, mucosal, polyploid masses with a “cluster of grapes” appearance;
Embryonal rhabdomyosarcoma aka sarcome botryoides
An 8-year-old child has had abdominal pain and dark urine for 10 days. Physical examination shows blotchy purple skin lesions on the trunk and extremities. Urinalysis shows hematuria and proteinuria. Serologic test results are negative for MPO-ANCA (P-ANCA) and PR3-ANCA (C-ANCA). A skin biopsy specimen shows necrotizing vasculitis of small dermal vessels. A renal biopsy specimen shows immune complex deposition in glomeruli, with some IgA-rich immune complexes. What is the most likely diagnosis?
In children, Henoch-Schönlein purpura is the multisystemic counterpart of the IgA nephropathy seen in adults. The immune complexes formed with IgA produce the vasculitis that affects mainly arterioles, capillaries, and venules in skin, gastrointestinal tract, and kidney.
A 3-year-old child is developing normally. Physical examination reveals a low-pitched cardiac murmur. An echocardiogram shows the presence of an ostium secundum, with a 1-cm defect. What abnormality is most likely to be found in this child?
Left to right shunt A persistent ostium secundum is the most common form of atrial septal defect. Because atrial pressures are low, the amount of shunting from the left atrium to the right atrium is small, and this lesion may remain asymptomatic for many years. Eventually, pulmonary hypertension can occur, with reversal of the shunt.
What is the dx? Anterior chamber angle is open and appears normal; Characteristic excavation of the optic nerve head; Progressive loss of visual field sensitivity; Increased ocular pressure; Degenerative changes in the retina;
Open-angle glaucoma No other underlying ocular disease
papillary cystadenoma lymphomatosum and adenolymphoma other names for what? Why is it helpful to remember this?
Warthin’s tumor - useful because cystic glandular benign tumor (cystadenoma) with lymph node-like stroma consisting of abundant lymphocytes and germinal centers (lymphomatosum ). Cystic spaces are surrounded by two uniform rows of cells with centrally placed pyknotic nuclei papillary - b/c epithelium surrounding cystic spaces exhibits “papillary infolding” adenolymphoma - useful to remember because neoplasm of glandular tissue (adenoma) with lymph-node like structures (lymphoma) *only type of salivary gland tumor more common in men than women, 15% of cases are bilateral
Sjogren’s syndrome
Rheumatoid arthritis is often associated with other autoimmune disorders, including Sjögren syndrome.
Sjögren syndrome presents with dry eyes and a dry mouth (lack of saliva production is involved in the development of caries).
Sjögren syndrome is diagnosed with a positive SS-A (Ro) and SS-B (La) antibody titer.
What is the serum tumor marker for hepatocellular carcinoma?
Alpha fetoprotein
Give the dx: GN; Prominent ribbon-like deposits along the lamina densa of the glomerular BM; Hematuria, proteinuria
Dense deposit disease Half of all cases end in chronic renal failure
PDA causes what kind of heart murmur?
A patent ductus arteriosus causes a shrill systolic murmur.
Spontaneous abortion
most common is trisomy 16, hypercoagulable state, congenital infection, teratogen exposure usually in first 2 weeks gestation
Congenital downward displacement of cerebellar vermis and tonsils through the foramen magnum that can obstruct CSF flow and cause hydrocephalus - very commonly associated with meningomyelocele
Arnold-Chiari malformation Type II meningomyelocele is protrusion of meninges and spinal cord in spinal bifida
What is the diagnosis? Autoimmune destruction of the salivary glands and lacrimal glands
Sjogren syndrome
Associate negri bodies with what diagnosis?
Rabies
tendency to aspirate fluids = “hydrophobia”
perivascular cuffing by lymphocytes
Mutations in ______ are related to development of pulmonary alveolar proteinosis.
Mutations in GM-CSF are related to development of pulmonary alveolar proteinosis.
Associate acanthocytosis or “spur cells” (RBCs look like suns with multiple projections coming out of them) with:
chronic liver disease; free cholesterol is deposited in the RBC membrane
What is the diagnosis? Mass of accumulated keratin and squamous mucosa that results from growth of squamous epithelium from the external ear canal through the perforated eardrum to the middle ear; Results from multiple bouts of otitis media
Cholesteatoma
Name the dx: thyroiditis featuring fibrosis and chronic inflammatory infiltrate; Progressive fibrosis in other locations possible; Patients complain of hoarseness or stridor;
Reidel thyroiditis
Charcot-Bouchard aneurysms can be seen in what diagnosis?
HTN cerebral lipohyalinosis –> weakening of arterial walls –> cerebral microaneurysms
Dx: Fibrosis of pancreatic parenchyma secondary to acute pancreatitis
Chronic Pancreatitis Alcoholics and CF patients OR idiopathic
Bradyarrhythmias less than 50/min suggest a disorder of what part of the heart?
Bradyarrhythmias less than 50/min suggest an SA node disorder. SA node dysfunction may worsen with cardioactive drugs, such as cardiac glycosides, β-adrenergic blockers, calcium channel blockers, and amiodarone.
Dx: Signet ring cells infiltrate gastric wall; Linitis plastica; Not associated with H. Pylori, intestinal metaplasia or nitrosamines
Diffuse type of gastric cancer NO ulcers, instead diffusely thickened wall of stomach
Name the dx: Ovulatory failure; Progsterone deficiency; Irregular and excessive menstrual bleeding; ED/oligospermia in men Mxedema; Mental status changes; Coarse, brittle hair; Muscle weakness
Autoimmune thyroiditis
Cervical Intraepithelial Neoplasia (CIN)
Koilocytic change looks like a mosaic, inlaid woodwork
carcinoma in situ is dysplasia involving the full thickness of the epithelium
progression from CIN I to CIS is not inevitable
Give the diagnosis for the following auto-antibody:
IgA antiendomysial, IgA anti-tissue transglutaminase
Celiac disease
Labs Hep D?
HD-Ag HD-sAg
Subdural hematoma is blood where?
UNDER the dura,
blood covering surface of brain;
presents with progressive neurologic signs;
trauma;
tearing of bridging veins between dura and arachnoid;
Herniation is a lethal complication
lymphocytic infiltrates at the dermal-epidermal junction; positive CD4+ immunohistochemical staining; scaly skin lesions/plaques
Mycosis fundoides - cutaneous T-cell lymphoma
What is the diagnosis? Squamous cell carcinoma, usually arises from the epithelial lining of the vocal cord; Risk factors are alcohol and tobacco
Laryngeal Carcinoma
Intensely pruritic cutaneous eruption; Wheal-like lesions with small vesicles Urticaria-like plaques and vesicles over extensor surfaces of the body; possible development of IgA antibodies to componenets of gluten
Dermatitis herpetiformis
Toxic granulations, which are coarse and dark primary granules, and Döhle bodies, which are patches of dilated endoplasmic reticulum, represent:
reactive changes of neutrophils that are most indicative of overwhelming inflammatory conditions, such as bacterial sepsis.
Give the dx: Serum positive for C-ANCA; Biopsy shows glomerular crescents and damage to small arteries; BUN:Creatinine about 10:1; ABSENCE of immune complexes of anti-GBM antibodies
GPA - granulomatosis with polyangiitis A Necrotizing granulomatous vasculitis Granulomatosis with polyangiitis (ANCA-associated vasculitis) is a cause for rapidly progressive glomerulonephritis (GN) characterized by epithelial crescents in Bowman space.
Centriacinar emphysema arises in respiratory bronchioles and is seen in what population?
Smokers
Name the diagnosis corresponding to this autoantibody:
Anti-cardiolipin, lupus anticoagulant
SLE
Antiphospholipid syndrome
frequently pigmented, elevated papules or plaques; scales easily rubbed off; microscopic: broad, anastomosing cords of mature stratified squamous epithelium with small cysrs of keratin (horn cysts)
seborrheic keratoses
Bowen disease
Bowen disease, which is one form of penile squamous carcinoma in situ, typically described as a thick flat white lesion.
The other forms of penile squamous cell carcinoma in situ are Bowenoid papulosis (multiple reddish-brown raised papular lesions) and erythroplasia of Queyrat (single or multiple shiny red plaques).
Untreated Bowen disease will, over a period of years, progress to frank invasive carcinoma in 10 to 20% of patients.
Bowen disease can affect the genital region of both men and women.
What lab values are commonly seen in nonalcoholic fatty liver disease?
ALT > AST
LFTs in Hep A
ALT>AST before jaundice (then 500-600s) ALT is more liver specific
Inflammation of the salivary gland usually due to an obstructing stone and subsequent staph aureus infection; usually unilateral
sialadenitis
Name the diagnosis: Necrotizing vasculitis, with few or no immune deposits, predominantly affecting small vessels (i.e., capillaries, venules, or arterioles). Necrotizing arteritis involving small and medium arteries may be present. Necrotizing glomerulonephritis is very common. Pulmonary capillaritis often occurs. Granulomatous inflammation is absent.
Microscopic polyangiitis
Bence-Jones proteinuria is characteristic of:
Multiple myeloma Amyloid deposition enlarges these kidneys
Why do some newborns develop jaundice?
Liver is still developing, cannot conjugate bilirubin fast enough
What is the diagnosis?
Benign tumor composed of stromal (cartilage) and epithelial tissue;
Most common tumor of the salivary gland;
Arises in parotid;
Mobile, painless, well-circumscribed mass at the angle of the jaw.
Pleomorphic adenoma
rarely turns into carcinoma;
high rate of recurrence (prob due to not excising enough)
Pregnant patients with diabetes may give birth to babies with what complication?
Hypoglycemia; increased birth weight
Upper lobe cavitation suggests what infection?
Upper lobe cavitation suggests secondary tuberculosis.
Give the diagnosis: Necrotizing arteritis of medium or small arteries without glomerulonephritis or vasculitis in arterioles, capillaries, or venules, and not associated with ANCA
Polyarteritis nodosa Medium artery necrotizing arteritis seen on biopsy, negative ANCA, no MCLNS, and no evidence of glomerulonephritis
A Krukenberg tumor is commonly seen with what cancer?
Diffuse type of gastric carcinoma distant metastases are bilateral ovaries
X-linked (Bruton) agammaglobulinemia
X-linked (Bruton) agammaglobulinemia:
Caused by a block in the B-cell maturational process due to mutations in Bruton tyrosine kinase (btk)
B-cell maturation stops at the point and cells will not develop beyond the point at which they can produce cytoplasmic mu heavy chains.
Give the dx: Deafness; Corneal erosions (lens dislocation possible); Hematuria; Inherited defects in BM collagen
Alport syndrome Proteinuria may be in the nephrotic range; Chronic renal failure in adulthood
Mutations involving NADPH oxidase lead to immunodeficiency in what disease?
chronic granulomatous disease
Chondroblastoma
chicken wire appearance adolescents primitive chondroblasts and cartilage matrix
What is the Diagnosis? Malignant tumor of ependymal cells; Usually seen in children; Commonly arises in the 4th ventricle –> can present with hydrocephalus; Perivascular Pseudorosettes on biopsy
Ependymoma
Most common infectious agent in acute suppurative tonsilitis?
strep pyogenes
Thiazolidinediones
Thiazolidinediones, such as pioglitazone, decrease triglycerides, increase HDL cholesterol, decrease C-reactive protein levels, and decrease serum glucose.
They are associated with the development of heart failure, hepatotoxicity, and weight gain.
Name the offending organism associated with these symptoms: Mild fever Nonproductive cough HA Myalgias 1 week duration CXR shows extensive bilateral patchy infiltrates Cold agglutinin titer is elevated
This primary atypical pneumonia is caused by Mycoplasma pneumoniae, a cell wall–deficient organism that is difficult to culture. Often, a diagnosis is made empirically. The findings are similar to those of other viral infections, and serologic testing shows the specific organism.
Reactive arthritis
HLA-B27 arthritis, urethritis, conjunctivitis Chlamydia or GI infection
_______ are present early in the pathogenesis of atherosclerotic lesions and are believed to activate monocytes, endothelial cells, and smooth muscle cells by secreting cytokines.
T-cells T cells are present early in the pathogenesis of atherosclerotic lesions and are believed to activate monocytes, endothelial cells, and smooth muscle cells by secreting cytokines. T cells adhere to VCAM-1 on activated endothelial cells and migrate into the vessel wall. These T cells, activated by some unknown mechanism, secrete various proinflammatory molecules that recruit and activate monocytes and smooth muscle cells and perpetuate chronic inflammation of the vessel wall.
Name two cell-markers (suggestive of medulloblastomas, ependoma or pineal parenchymal tumors) that rule out lymphoma, metastatic epithelial tumor or neuroectodermal malignancy
synaptophysin or nestin
T/F: The risk of acute cystitis in females is higher in pregnancy.
True
In carcinoid syndrome, why does only the right heart develop fibrosis?
Because the serotonin in the circulation goes to the lung and is converted to 5-HIAA by monoamine oxidase which is nontoxic to the heart
actinic keratoses indicative of:
precursor to squamous cell carcinoma atypia in basal keratinocytes
Name the two large vessel vasculitides.
Giant cell arteritis Takayasu arteritis
What is the diagnosis? Vermilion border on the lower lip
Leuko/erythroplakia
Goodpasture syndrome
Goodpasture syndrome, a form of anti-glomerular basement antibody disease (anti-GBM antibody disease), is characterized by autoantibodies (usually IgG) that are directed against the basement membranes found in the renal glomeruli and pulmonary alveoli. The antigen is a component of a non-collagenous domain of one of the chains of type IV collagen in the glomerular basement membrane. The immunologic reaction against the basement membranes predisposes for both rapidly progressive (crescentic) glomerulonephritis and pulmonary hemorrhage.
With immunofluorescent techniques, these antibodies can be detected as linear deposits following the basement membranes in both renal and pulmonary biopsies (see photomicrograph of immunofluorescence of a glomerulus in the kidney below). Goodpasture syndrome formerly had a dismal prognosis, with deaths related to either renal failure or pulmonary hemorrhage; however the prognosis has improved with intensive use of plasma exchange.
What causes DiGeorge syndrome?
Failure of development of the third and fourth branchial pouches resulting in agenesis or hypoplasia of the thymus and parathyroid glands, congenital heart defects, dysmorphic facies etc. Parathyroid agenesis –> convulsions (hypocalcemia) Thymic aplasia –> loss of T cells –> deficiency of cell-mediated immunity, particular susceptibility to candida infections
Lysyl hydroxylase is required for cross-linking collagen, and its loss gives rise to one form of _________
Lysyl hydroxylase is required for cross-linking collagen, and its loss gives rise to one form of Ehlers-Danlos syndrome.
Give the dx: Eosinophils in the urine
Allergic nephritis
What is the likely diagnosis? high blood pressure; NO hepatosplenomegaly or lymphadenopathy; high platelet count; occult blood in stool; high Hgb and Hct; afebrile
polycythemia vera (PCV), a myeloproliferative disorder characterized by an increased RBC mass, with hematocrit concentrations typically exceeding 60%. Although the increased RBC mass is responsible for most of the symptoms and signs, these patients also have thrombocytosis and granulocytosis. This occurs because, similar to other myeloproliferative disorders, PCV results from transformation of a multipotent stem cell.
Thrombotic stroke is due to:
rupture of an atherosclerotic plaque Atherosclerosis commonly develops at branchpoints, for example the bifurcation of IC and MCA in the circle of willis; results in pale infarct at the periphery of the cortex
What is the diagnosis? Benign tumor of arachnoid cells; More common in women; May present as seizures; Histology shows a whorled pattern; Psammoma bodies may be present
Meningioma
Vulvar Carcinoma
HPV 16, 18, 31, 33
presents as leukoplakia
rare VIN (vulvar intraepithelial neoplasia)
cytokeratins - tumor markers can have keratin pearls on histo
koilocytic change on histology
Reduced lower esophageal sphincter tone is due to:
GERD Heartburn, asthma and cough, damage to enamel of teeth Late complications are Barrett esophagus and ulceration with stricture
What is the most common cause of death in cirrhotics?
Rupture of esophageal varices Arise secondary to portal HTN; Left gastric vein backs up into the esophageal vein, resulting in dilation Asymptomatic until/unless rupture Presents with *painless* hematemesis
What is the diagnosis? Failure to thrive; Respiratory insufficiency; Accumulation of cerebroside in the white matter of the brain and peripheral nerves; Accumulation of arylsulfate (no functioning arylsufatas)
MLD - Metachromatic Leukodystrophy inborn error of metabolism
Wernicke syndrome is secondary to thiamine deficiency. Atrophy of what parts of the brain would be seen on autopsy?
Mamillary bodies and hypothalamus Periaqueductal regions of the midbrain and the tegmentum of the pons
Goodpasture syndrome leads to renal and pulmonary lesions produced by an antibody directed against an antigen common to the basement membrane in glomerulus and alveolus. What kind of hypersensitivity reaction then ensues?
Type II
Bartholin Cyst
unilateral, painful lesion near vaginal canal
generally, megaloblastic anemias are caused by:
impaired DNA synthesis ie folic acid deficiency
consequence of chonric suppurative otidis media with rupture of typanic membrane
cholesteatoma
Name the disease: Bilateral inflamed parotid glands; Orchitis, pancreatitis, aseptic meningitis may also be present
Mumps *Serum amylase is increased due to salivary gland or pancreatic involvement
T/F polio virus damages the anterior horn of the spinal cord producing lower motor neuron lesion symptoms
true - syndrome called poliomyelitis flaccid paralysis, muscle atrophy, fasciculations, weakness, decreased muscle tone, impaired reflexes, negative babinski sign
T/F: Primary disorders of hemostasis do not involve the coagulation cascade, therefore PT/PTT will be normal.
True
Granulosa-Theca Cell Tumor
Sex-cord stromal tumor
precocious puberty, but usually occurs in postmenopausal women
malignant but not aggressive
Give the diagnosis for the following auto-antibody:
Anti-TSH receptor
Graves disease
syndrome marked by recurrent aphthous ulcers, genital ulcers and uveitis What is it? What causes symptoms?
Bechet syndrome small vessel immune-complex vasculitis
Partial Thromboplastin Time (PTT) measures:
intrinsic factor (factors XII, XI, IX, VIII) and common pathways (factors II, V, X and fibrinogen) of the coagulation cascade
KCNQ1 mutations may be seen with what cardiac disease?
KCNQ1 mutations may be seen with long QT syndrome
In patients who develop adenocarcinoma of the prostate, what is the precursor?
Prostatic intraepithelial neoplasia
Flat-topped violaceous papules
Lichen planus
Myxedema Down syndrome Acromegaly Systemic amyloidosis Mucosal neuromas in multiple endocrine neoplasia syndrome IIb These are all causes of what oral finding?
Macroglossia (enlarged tongue)
Most likely type of brain tumor in AIDS patient
primary deep cerebral (B-cell) lymphoma with bilateral perivascular distribution
Hirschsprung disease is often seen in:
Down syndrome
Yellow-white papules and pustules surrounding an erythematous flare newborns
Erythema toxicum
Myoglobinuria most often results from:
rhabdomyolysis, such as after severe crush injuries
Mutation in the gene for _________ occurs in Marfan syndrome.
Mutation in the gene for fibrillin-1 (FBN1) occurs in Marfan syndrome.
What is the diagnosis? Trinucelotide repeat pathology; Mild scoliosis; New onset difficult walking; Lower-limb areflexia; dysarthria; cardiomyopathy
Friedreich Ataxia combined ataxia of upper and lower limbs extensor plantar reflexes and sensory loss also common; scoliosis, diabetes mellitus; autosomal recessive - inherited hypertrophic cardiomyopathy is common cause of death
Degenerative disorder of upper and lower motor neurons of the corticospinal tract that typically appears in middle age adults, marked by early atrophy and weakness of the hands and overall lack of sensory impairment.
ALS familial cases have SOD1 mutation
Dx: Cirrhosis Neurological manifestations Kayser-Fleisher rings on cornea; Increased risk of hepatocellular carcinoma
Wilson disease
Lichen Simplex Chronicus
Thick, leathery vulva hyperplasia of vulvar squamous epithelium benign
Sliding hiatal hernia is most often associated with:
Reflux esophagitis
Cause of syndrome defined by bilateral benign tumors of the 8th cranial nerve (acustic neuromas), which are commonly associated with meningeioms and gliomas
Neurofibromatosis type II deletion of NF2 gene
benign mobile painless and circumscribed mass in the parotid gland with high recurrence rate after surgical excision
pleomorphic adenoma
Name the dx: thyroiditis featuring multinucleated giant cells; granulomatous; caused by a viral infection; self-limited
subacute aka DeQuervain thyroiditis
What is the diagnosis? Infant or neonatal presentation; Autosomal recessive; Severe hypotonia and areflexia; Enlarged tongue; Cardiomegaly; Often, death by cardiac failure within the first 2 years of life
Pompe Disease, a glycogen storage disease Inability to degrade glycogen Pompe is the most severe form Serum CK slightly to moderately increased
What is the diagnosis? Melanin pigmentation of the lips and oral mucosa
Peutz-Jeghers syndrome could also be Addison disease (on buccal mucosa) could also be lead poisoning
Clear Cell Adenocarcinoma of the Vagina
complication of DES-associated vaginal adenosis
Associate neutrophilic patchy infiltrates with productive cough with what viral pneumonia infection?
Haemophilus influenzae
A monoclonal IgM spike is a feature of:
lymphoplasmacytic lymphoma (Waldenström macroglobulinemia)
Lack of sensory impairment distinguishes ALS from what other diagnosis?
Syringomyelia
Dx: AD; From mouth through GI tract; results in bleeding
Hereditary Hemorrhagic Telangectasia
Clincal signs of Von-Hippel Lindau syndrome
headache, unsteadiness in walking (wide based gait), unilateral impaired coordinated movements in arm and leg (disdiodokinesia), intentional tremor
Associate Lewy bodies with what diagnosis?
Parkinson’s disease Eosinophilic inclusions composed of filamentous aggregates of alpha-synuclein
What is a lethal complication? Infant with severe GI fluid loss ie. from diarrhea
Venous sinus thrombosis in the brain
Give the dx:
Focal hemorrhages and necrosis in kidney WITHOUT a granulomatous component;
BP usually high
hyperplastic arteriosclerosis
Genetic predisposition to melanoma
CDKN2A tumor suppressor gene (p16) mutation encodes an inhibitor of CDK that normally inhibits cell proliferation
bone pain and tenderness; most common malignancy seen in children; anemia; thrombocytopenia; presence of blasts in the peripheral blood and bone marrow that *have* nucleoli; petechial hemorrhages possible;
Acute lymphocytic leukemia
What disorders are in the differential when a high platelet count is given?
chronic myelogenous leukemia; myelofibrosis; polycythemia vera; essential thrombobyctosis (non-neoplastic)
What is the ristocetin test?
Ristocetin induces platelet agglutination by causing vWF to bind to platelet gP1b. Lack of vWF (in Von Willebrand Disease) –> impaired agglutination –> abnormal test result
A 50-year-old man with muscle pain and fever for a month now notes darker colored urine for the past 2 weeks. On physical examination he has palpable purpuric lesions of his skin. Urinalysis shows hematuria and proteinuria. Serum laboratory findings include a mixed cryoglobulinemia with a polyclonal increase in IgG, as well as a high titer of anti–neutrophil cytoplasmic autoantibodies, mainly antimyeloperoxidase (MPO-ANCA, or P-ANCA). A skin biopsy is performed. What pathologic finding is most likely to be observed in this biopsy?
Medial fibrinoid necrosis Microscopic polyangiitis involves small vessels, typically capillaries. Kidneys and lungs are commonly involved, but many organs can be affected. There may be an underlying immune disease, chronic infection, or drug reaction.
Cystic medial necrosis is associated with what?
Dissecting aortic aneurysm
Accumulation of blood between the calvaria and the dura is what kind of hematoma?
Epidural Commonly associated with trauma - bone fracture severs middle meningeal artery
Relative likelihood of intracranial metastasis Colon cancer Breast cancer Lung cancer Melanoma Renal cancer
Melanoma>breast/lun>renal/colon
Name the dx: Precocious puberty in a male child (but can occur at any age); If in older age group, can be associated with feminization or gynecomastia Tumor secretes androgens, estrogens, or both
Leydig (interstitial) cell tumor;
A 54-year-old woman has had a mild fever with cough for a week. Her symptoms gradually improve over the next 10 days. She then begins to have increasing fever, cough, shortness of breath, and malaise. Now, on physical examination, her temperature is 37.9° C. There are inspiratory crackles on auscultation of the chest. A chest radiograph shows bilateral, patchy, small alveolar opacities. Chest CT scan shows small, scattered, ground-glass and nodular opacities. A transbronchial biopsy specimen shows polypoid plugs of loose fibrous tissue and granulation tissue filling bronchioles, along with a surrounding interstitial infiltrate of mononuclear cells. She receives a course of corticosteroid therapy, and her condition improves. What is the most likely diagnosis?
Cryptogenic organizing pneumonia Bronchiolitis obliterans is a feature of cryptogenic organizing pneumonia, an uncommon, nonspecific reaction to a lung injury, such as an infection or toxic exposure.
Dx: Outpouching of all three layers of bowel wall; Arises due to failure of vitelline duct to involute
Meckel Diverticulum
Complications of acute pancreatitis
Liquefactive necrosis AND fat necrosis of pancreas from autodigestion
Pneumonia in Smokers
Haemophilus influenzae, Legionella pneumophila, and Moraxella catarrhalis are the most common causes of bronchitis in smokers.
H. influenzae is an encapsulated, gram-negative, pleomorphic rod.
Legionella does not Gram-stain well, and Moraxella is a gram-negative coccus.
What kind of heart disease leads to endocardial and valvular collagenous thickening?
Carcinoid heart disease leads to endocardial and valvular collagenous thickening. release of active tumor products –> flushing, wheezing, skin lesions, diarrhea
Endometrial stromal sarcoma
usually neoplastic cells surrounding a blood vessel rare
Red, papular lesions
Cherry angioma
Risk factors for pancreatic carcinoma
Smoking; Chronic pancreatitis
CSF findings from viral meningitis?
lymphocytes with normal CSF glucose
Name the diagnosis corresponding to this autoantibody:
Anti-desmoglein
Pemphigus vulgaris
Porcelain gallbladder is a risk factor for the formation of:
gall bladder cancer (adenocarcinoma) Poor prognosis
Familial Fatal Insomnia is what kind of disease?
Spongiform Encephalopathy Inherited form of prion disease
Protect babies from Hep B vertical infection by:
immune globulin administration within 12 hours of being born
ITP can be seen in what autoimmune disorder?
SLE antibody-mediated platelet destruction
Medullary carcinoma (of the breast)
nests of cells lymphocytes, dense lymphoid infiltrate fleshy, bulky tumors no calcifications better prognosis than infiltrating ductal or lobular carcinoma
“popcorn” cell
Reed-Sternberg cell aka lacunar histiocyte “crippled” B cell bc of mutations in Ig gene malignant B-cell; bi-nucleated does not stain with CD-20, CD45- NO immunoglobulin on its surface CD15+ CD30+
Osteochondroma
overlying cartilage cap lateral projection of growth plate (metaphysis)
What is the diagnosis? Most common cancer of the upper lip Associated with UVB exposure
Basal cell carcinoma
Minimal change disease is aka:
lipoid nephrosis; no glomerular changes seen by light microscopy
Within the airspace are multiple large cells with prominent purple intranuclear inclusions, indicative of what infection?
CMV immunocomprimised marked interstitial pneumonitis
Dx: Elevation of serum lipase and amylase; Epigastric abdominal pain that radiates to the back; Hypocalcemia
Acute pancreatitis
What is the most common cause of acute epiglottitis , especially in nonimmunized children?
H. influenzae type B
Give the diagnosis for the following auto-antibody:
Anti-smooth muscle
Autoimmune hepatitis
Aflatoxin is a well-known:
hepatotoxin, associated with hepatocellular carcinoma
What is the diagnosis? Tumor of epithelial odontogenic origin; Most common clinically significant odontogenic tumor; Slow-growing, generally benign
Ameloblastoma
Papillomatosis
risk for developing cancer proliferative fibrocystic change ie increased cells lining the dilated terminal ducts (ductal epithelial hyperplasia)
Name the dx: Congenital abnormality in which one or both testes are not found in their normal position in the scrotum; Most common urologic condition in infants; Increased incidence of infertility AND germ cell neoplasia (ie seminoma)
Cryptorchidism (undescended testicle) Fix w surgery
A 62-year-old man is a smoker with a 10-year history of cough productive of copious mucopurulent sputum. Over the past 6 months, he has developed progressive dyspnea. Physical examination shows bilateral pedal edema and a soft but enlarged liver. A chest radiograph shows bilateral pleural effusions and a prominent right heart border. Arterial blood gas values are Po2, 60 mm Hg; Pco2, 52 mm Hg; pH, 7.30; and HCO3−, 29 mEq/L. He is intubated and placed on a ventilator, and he requires increasing amounts of oxygen. What microscopic finding is most likely to be present in the affected lungs?
Hypertrophy of bronchial submucosal glands Chronic bronchitis can be complicated by pulmonary hypertension and cor pulmonale. There are few characteristic microscopic features of chronic bronchitis, so it is mainly defined clinically by the presence of a persistent cough with sputum production for at least 3 months in at least 2 consecutive years.
Surface Epithelial Ovarian tumor
most common serous and mucinous BRCA1 mutations increase risk for serous carcinoma of ovary and fallopian tube malignant tumors - cystadenocarcinoma - complex cysts with thick, shaggy lining postmenopausal women poor prognosis (usually caught late) CA-125 serum marker Brenner tumor - benign - bladder-like epithelium
What is the diagnosis? Inability to metabolize long-chain fatty acids due to an inability to transport these FAs to into the mitochondria (where they undergo beta-oxidation)
Carnitine Palmityl Transferase Deficiency
α-Fetoprotein is a marker for:
some germ cell tumors that contain yolk sac elements;
liver cancer
Give the dx: Patients usually develop kidney stones, infection, or recurrent hematuria in the third or fourth decade; often bilateral; cystic dilation of 1 to 5 mm is present in the inner medullary and papillary collecting ducts.
Medullary sponge kidney
Name the dx: Adenoma of the pituitary; Parathyroid hyperplasia or adenoma; islet cell tumorsof the pancreas (insulinoma and gastrinoma)
MEN-1 aka Werner syndrome Mutation of the MEN-1 tumor suppressor gene
What is the dx?
Fundoscopy reveals cotton-wool spots, macular star, retinal hemorrhages, edema of the optic nerve, arteriovenous nicking of the retinal arterioles
Hypertensive retinopathy
What is Polymicrogyria?
Common cause of mental retardation Surface of brain shows multiple small, irregularly sized, randomly-distributed gyral folds
What is the diagnosis? Baby born with gross deformity of lower back; Subcutaneous lesion has disorganized neural tissue and entrapment of nerve roots;
Meningomylocele Neural tube defect; Exposes the spinal canal; Causes entrapment of nerve roots
