Presentations Flashcards
Trigeminal neuralgia
Chronic pain syndrome characterized by transient, recurrent, severe shooting, stabbing pain in the trigeminal nerve distribution
Manifests with pain shooting from mouth to angle of jaw
Triggered by brushing, chewing, cold, touch
Tx with carbamazepine
Koplik spots (measles (rubeola) virus)
Small, irregular red spots on buccal/lingual mucosa with blue white centers
Methylmalonic academia
Branched chain organic acidemia
AR
Caused by defect in methylmalonyl coA mutase (enzyme that convert methylmalonyl coA to succinyl coA)
Causes hyperammonemia by inhibiting urea cycle, inhibits gluconeogenesis, promotes fatty acid oxidation, metabolic acidosis
S/s: metabolic acidosis, branched chain acids in serum, vomiting, poor feeding, failure to thrive, hypotonia, hepatomegaly first few weeks of life
Peyronie disease (connective tissue disorder)
Fibrous plaques in tunica albuginea or penis with abnormal curvature
Immunoglobulin A vasculitis (Henoch Schonlein purpura, affects skin and kidneys)
Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
Hematuria
Scurvy (vitamin C deficiency: cannot hydroxylate proline/lysine for collagen synthesis)
Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae
Kaposi sarcoma (assoc with HHV8)
Dark purple skin/mouth nodules in AIDS pts
Whipple disease (Tropheryma whipplei)
Arthralgias Cardiac symptoms Neuro symptoms Adenopathy Diarrhea
Horner syndrome (sympathetic chain lesion)
Ptosis
Miosis
Anhidrosis
Huntington disease (AD CAG repeat expansion)
Chorea
Dementia
Caudate degeneration
Pemphigus vulgaris (blistering)
Anti desmoglein (anti desmosome) abs
Serotonin syndrome treatment
CYPROHEPTADINE (5HT antagonist)
Bernard Soulier disease
AR bleeding disorder
Deficiency of PLATELET GLYCOPROTEIN 1B RECEPTOR
(Normal- GP1b receptor binds vWF in vessels [critical for platelet adhesion] and is involved in platelet production by megakaryocytes.)
- deficiency of GP1b receptor leads to BOTH abnormal platelet aggregation with ristocetin and thrombocytopenia with giant platelets on peripheral smear
presents with petechiae, purpura, menorrhagia, prolonged bleeding with trauma and surgery
Causes decreased platelet count, giant platelets, prolonged bleeding time, normal PT and PTT and abnormal platelet aggregation with ristocetin
Malignant otitis externa
Subtype of otitis externa characterized by necrotizing inflammation of external auditory canal
MC associated with P aeroginosa
Risk factors: poorly control DM and immunosuppression
S/s: severe ear pain, facial droop (indicating progression to osteomyelitis of temporal bone with associated CNVII palsy), fever, tachycardia, and presence of granulation tissue in ear canal
Cholelithiasis
Fat
Female
Forty
Fertile
Klinefelter syndrome
XXY genotype
Tall stature, small atrophic testes, lack of secondary male characteristics, infertility, gynecomastia, MVP
At puberty- seminiferous tubules fail to enlarge normally and undergo fibrosis and hyalinization
Leydig cells are hyperplastic, clumped together, and do not produce testosterone
- testosterone normally feeds back negatively on hypothalamus and anterior pituitary to suppress LH and FSH, inhibin B also suppresses FSH release—>Klinefelter pts have low testosterone, LH and FSH both rise in response to release from feedback inhibition and inhibin B levels are low, allowing FSH to rise
- inhibin B is produced by Sertoli cells in response to testosterone, so levels fall when testosterone production decreases. Inhibin B normally inhibits FSH release from anterior pituitary
Hodgkin’s lymphoma
Localized LAD
Painless cervical LAD
Alcohol induced pain
B symptoms - fever, night sweats, weight loss
Bimodal distribution (3rd and 6-8 decade of life)
LN bx- Reed Sternberg cells (CD15/30 +, polynuclear giant cells that originate from B cells)
Associated with EBV, immunodeficiency (HIV)
Hereditary spherocytosis
Congenital RBC membrane protein defect - loss of outer lipid bilayer and decrease in RBC surface area - sphere shaped RBCs with membrane instability (spherocytes)
Spherocytes get trapped in splenic vasculature—> splenomegaly and destruction by splenic macrophages—> normocytic anemia and jaundice
- increased MHCH
- increased RDW
- signs extravascular hemolysis (high LDH, indirect hyperbilirubinemia)
AD
Family hx positive for splenectomy and/or cholilethiasis at young age
MC affected proteins: SPECTRIN, ANKYRIN, band 3, protein 4.2
Scleroderma (CREST)
Anticentromere antibodies
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono, CLL)
Painful blue fingers/toes
Hemolytic anemia
Beck’s triad of cardiac tamponade
Distant heart sounds
JVD
Hypotension
Angina (- troponins) or NSTEMI (+ troponins)
Chest pain with ST depressions on EKG
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)
Infant with hypoglycemia and hepatomegaly
OA (osteophytes on PIP (Bouchard nodules), DIP (Heberden nodules)
Swollen, hard, painful finger joints in elderly
Pain worse with activity
Kluver Bucy syndrome (bilateral amygdala lesion)
Hyperphagia
Hypersexuality
Hyperorality
IgA deficiency
Anaphylaxis after blood transfusion
Hyper IgM syndrome
Class switching disorder
MC dt defective CD40L on Th1 cells—> can’t bind CD40 on B cells—> can’t class switch—> T cell dependent B cell activation defect
X linked (boys)
HIGH IgM, all other Igs absent
No IgG- cannot opsonize therefore recurrent encapsulated bacteria infections
Neurofibromatosis type 1
Cafe au lait spots Loach nodules (iris hamartoma) Cutaneous neurofibromas Pheochromacytomas Optic gliomas
Hyperchloremic metabolic acidosis
Non anion gap
Caused by primary loss of bicarbonate, which results in compensatory increase in extracellular Cl-
Common causes: Diarrhea Vomiting RTA Carbonic anhydrase inhibitors
Osler nodes (infective endocarditis, immune complex deposition)
Painful, red raised lesions on finger/toe pads
Burton line (lead poisoning)
Bluish line on gingiva
PKU
Accumulation of Phe in CNS
can be dt defect
Of Phe hydroxylase (classic PKU) or deficiency of tetrahydrobiopterin (malignant PKU)
Psychomotor retardation, seizures, musty odor. Pale skin/hair (lack of melanin)
AUTOSOMAL RECESSIVE
LMN damage
Hyporeflexia
Hypotonia
Atrophy
Fasciculations
Rovsing sign (acute appendicitis)
RLQ pain with LLQ palpation
Lymphoid cells
Precursors of:
B or T cells
Pancreatic pseudocyst
Fluid collection rich in pancreatic enzymes surrounded by a wall of nonepithelialized FIBRIN and GRANULATION tissue
Usually occurs weeks after pancreatitis
Potentially caused by disruptions of pancreatic ducts from pancreatitis and extravasation of pancreatic enzymes
Lichen planus
Pruritic
Purple
Polygonal planar applies and plaques
Congenital toxoplasmosis
Chorioretinitis
Hydrocephalus
Intracranial calcifications
Scarlet fever OR Kawasaki disease
Strawberry tongue
Neurosyphilis (Argyll Robertson pupil)
Pupil accommodates, but does not react
Muscular dystrophy (MC Duchenne dt X linked recessive frameshift mutation of dystrophin gene)
Calf pseudohypertrophy
Sarcoidosis (non caseating granulomas)
Bilateral hilar adenopathy
Uveitis, conjunctival injection
Factor V Leiden
Hypercoaguable state
Mutation in Factor V does not allow activated protein C (potent anticoagulant) to inhibit the coagulation cascade
Procoagulant state by activation of prothrombin to thrombin
Increased thrombotic events (peripheral and cerebral vein thrombosis, recurrent pregnancy loss)
Aortic stenosis
Systolic ejection murmur
Crescendo- decrescendo
Bruton disease (X linked agammaglobulinemia)
Male child, recurrent infections, NO MATURE B CELLS
Bruner glands location
Sub mucosa of duodenum
Secrete bicarbonate
Undergo hyperplasia as a protective mechanism in its with PUD
McCune Albright syndrome (Gs activating mutation)
Unilateral cafe au lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Endocrine abnormalities
Nevis flammeus (benign, associated with Sturgeon Weber syndrome)
Vascular birthmark (portwine stain) on face
PGE2
Redness (vasodilation) Edema (permeability) Fever (hypothalamus) Pain (nerves) Renal vasodilation (afferent) GI mucosa protection
Goodpasture’s syndrome
Antibody to alpha 3 chain of type IV collagen
Anti GBM and anti alveoli
TYPE II HSR
Hemoptysis and nephritic syndrome
IF: linear pattern of IgG and C3
Classic case- young adult male, hemoptysis, hematuria, NO ANCAs
Turner syndrome (45XO)
Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth Short stature Webbed neck Lymphadema
Dressier syndrome (autoimmune mediated post MI fibrinous pericarditis, 2 weeks to months after acute MI)
Chest pain
Pericardial effusion/friction rub
Persistent fever after MI
Essential tremor
MC form of tremor
AD or sporadic
Bilateral hand tremor, head, and/or voice
Worse with voluntary movements, stress, fatigue, caffeine
Improves with alcohol, resolves at rest
TX WITH PRIMIDONE
Ataxia telangiectasia
Failure to repair dsDNA breaks via NHEJ—> accumulate DNA damage and hypersensitivity of DNA to ionizing radiation
Ataxia, telangiectasias, infections, malignancies—> begins with gait and balance problems
Repeated sinus/pulmonary infections dt low IgA and IgG
HIGH AFP, LOW IgA
Narcolepsy
Excessive daytime sleepiness
Cataplexy- sudden muscle weakness in fully conscious person triggered by strong by emotions
Sleep paralysis
Sleep hallucinations
Dx: rapid beta waves on EEG or LOW levels of hypocretin in CSF
Tx: good sleep hygiene, daytime stimulant (modafinil, amphetamines), nighttime sodium oxybate therapy
Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)
Large rash with bull’s eye appearance
Hashimoto thyroiditis biopsy findings
Follicle destruction with lymphocytic infiltrate and germinal center formation
Hashimoto’s thyroiditis is caused by auto antibody mediated destruction of thyroid tissue abs manifests as hyperthyroidism first abs then progresses to hypothyroidism
Patchy diffuse DECREASED uptake of radioiodine
Non painful, indurated ulcerated genital lesion
Chancre (primary syphilis, T pallium)
Hereditary spherocytosis
Genetic mutation in spectrin or ankyrin (RBC membrane proteins)
AD
Splenomegaly
Jaundice
Anemia
Elevated mean corpuscular Hb concentration (MCHC)
Spherocytes on smear
Extra vascular hemolysis of fragile RBCs within the spleen (worsened by viral infections) leads to increased bilirubin and formation of calcium bilirubinate gallstones (black pigment gallstones)—> predisposing to cholecystitis
Multiple sclerosis
Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear opthalmoplegia
Myofibroblasts
Generate contractile force that draws wound edges together
Excessive proliferation and persistence of myofibroblasts lead to pathological fibrosis and contracture
Cryoglobulinemic vasculitis
Triad of arthralgia, palpable purpura, fatigue
Cryoglobulin mediated vasculitis characterized by temperature dependent deposition of Ig/immune complexes in blood vessel walls and subsequent inflammation of involved vessels
Associated with HCV, multiple myeloma, lymphoproliferative dx, CT dx, autoimmune dx, proliferative glomerulonephritis
Alport syndrome (mutation in collagen IV)
Hereditary nephritis
Sensorineural hearing loss
Retinopathy
Lens dislocation
Osteitis deformans (Paget disease of bone, high osteoblasts and osteoclastic activity)
Bone pain
Bone enlargement
Arthritis
Succinylcholine MOA and AE
Persistent depolarization of motor end plate—> flaccid skeletal paralysis
AE: malignant hyperthermia and hyperkalemia
Fanconi syndrome (multiple combined dysfunction of PCT)
Polyuria RTA type II Growth failure Electrolyte imbalances Hypophosphatemic rickets
Mast cell degranulation releases (4)
TRYPTASE
Histamine
Heparin
Eosinophilic chemotactic factors
Eosin 5 maleimade binding test
Confirmatory test for hereditary spherocytosis
S/s: fatigue, malaise, pale conjunctiva, splenomegaly, anemia, positive family history, HIGH RDW, increased MHCH
PIGMENTED GALLSTONES are complication of hereditary spherocytosis
Lymphogranuloma venereum
Sexually transmitted disease caused by L1-3 serovars of Chlamydia trichomatis
Starts as PAINLESS papule on genitals thy May ulcerate. Heals on it’s own.
2-4 weeks after initial lesion, pts have painful suppurative bilateral inguinal LAD and fever, chills, malaise, myalgia
anti NMDA encephalitis
Paraneoplastic encephalomyelitis associated with ovarian teratoma
Antibodies against NMDA glutamate receptors
Pts have prodrome of fever, HA, fatigue followed by psychiatric and neurological symptoms and autonomic dysregulation
CSF analysis shows lymphocytes with increased protein concentration
Angina (stable: with moderate exertion; unstable: with minimal or no exertion)
Chest pain on exertion
EDS type III
Type III collagen defect
Vascular subtype
Rupture of large arteries- CNS “berry” aneurysms
Rupture of hollow organs- intestinal perforation, uterus during pregnancy
Life threatening form of EDS
Bullous pemphigoid
Autoimmune blistering disease in adults
Autoantibodies to HEMIDESMOSOME
Large pruritic bullae on palms, soles, lower legs, inguinal folds
Linear deposition of IgG and C3 at DERMO EPIDERMAL JUNCTION
Tense bullae, negative nikolsky
Osteitis deformans
Aka Paget disease of bone
Increased bone remodeling dt increased osteoblasts and osteoclast activity —> formation of disorganized bone, abnormal structure
Pathological fx, bone pain with overlying redness, hearing loss
Elevated alk phos, normal calcium and phosphate
Biliary atresia
Rare neonatal condition characterized by progressive fibrosis and obliteration of extrahepatic biliary tree
Leads to cholestasis, jaundice, acholic stools, dark urine
Progresses to liver cirrhosis and failure requiring transplantation
Enterotoxigenic E. coli (ETEC)
Produces heat labile and heat stabile toxin.
Heat labile- causes over activation of adenylyl cyclase—> increase cAMP
Heat stabile- increases cGMP via activation of guanylyl cyclase
Tricyclic antidepressants (TCAs) toxicity- 3Cs
- Convulsions
- Coma
- Cardiotoxicity
TCAs (clomipramine, amitriptyline, imipramine, nortriptyline) inhibit NE and serotonin reuptake AND BLOCK MUSCARINIC, HISTAMINE, and ALPHA 1 ADRENERGIC RECEPTORS
Significant anticholinergic properties dt muscarinic block- tachycardia, dry mouth, dry eyes, constipation, UTI art retention, mydriasis, sedation, QT prolongation, ventricular arrhythmia said, angle closure glaucoma
Vitiligo
Autoimmune destruction of melanocytes
Pts should be tested for thyroid function and markers of other autoimmune conditions
Depigmented areas involve face, neck, scalp, sacrum, extensor surfaces, genitals
Metyrapone stimulation test
Metyrapone inhibits cortisol by inhibiting 11 beta hydroxylase—> leading to increased CRH and ACTH dt decreased negative feedback
ACTH stimulates 11 deoxycortisol—> immediate precursor of cortisol
11 deoxycortisol that do not increase after metyrapone indicate primary adrenal insufficiency
Failure of ACTH and 11 deoxycortisol to both rise after metyrapone indicate secondary or tertiary adrenal insufficiency
Virchow node (abdominal metastasis)
Enlarged, hard LEFT supraclavicular LN
Internuclear opthalmoplegia (damage to MLF; may be unilateral or bilateral)
Conjugate horizontal gaze palsy
Horizontal diplopia
Poststreptococcal glomerulonephritis
Granular deposits of IgG, IgM, and C3 along glomerular basement membrane and mesangiun on immunofluorescence - LUMPY BUMPY ON IF
Subepithlial immune complexes on on EM (humps)
Immune complexes trigger complement activation that destroys glomeruli
Pt will have nephritic syndrome- periorbital edema, gross hematuria with RBC casts, mild proteinuria, elevated creatinine, HTN after GAS infection
Paget disease of breast (sign of underlying neoplasm)
Red, itchy, swollen rash of nipple/areola
Wiskott Aldrich syndrome
X linked WAS gene mutation
WASp dysfunctional —> necessary for T CELL CYTOSKELETON maintenance—> cytoskeleton dysfunction—> T cells cannot react to APCs
Thrombocytopenia
Eczema
Recurrent pyrogenic infections
HIGH IgE and IgA
Chronic bronchitis (hyperplasia of mucus cells, “blue bloater”)
Hypoxemia
Polycythemia
Hypercapnea
Painful, with exudate ulcerated genital lesion
Chanchroid (Haemophilus ducreyi)
Leukocyte Adhesion Deficiency
Defective neutrophil/lymphocyte migration
MC type I
- AR DEFECT IN CD18–> forms beta subunit of INTGRINS (adhesion molecules)
- WBCs, especially PMNs CANNOT roll, migrate
Delayed separation of umbilical cord
- presents as omphalitis
Recurrent bacterial infections
Neutrophilia- but neutrophils cannot leave blood and enter tissues
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
C diff infection
Abdominal pain
Diarrhea
Leukocytosis
Recent abx use
Langerhans cells
APCs in skin and mucus membranes
Most effective form of APC because express MHCII and costimulatory B7 cell surface molecules
Express myeloid cell surface markers
Contain characteristic RACKET SHAPED INTRACYTOPLASMIC GRANULES (Birbeck granules) visible on EM
Hydropic degeneration
Accumulation of water in cells in response to injury
Impaired Na/K ATPase pump function (due to hypoxia ie) decreases ATP production —> leads to Na accumulation in cell.
Consequently, water follows Na, leads to cell swelling
Cells look pale and swollen
Erb Duchenne palsy (superior trunk (C5-C6) brachial plexus injury)
Waiter’s tip arm position
Arm paralysis after difficult birth
Cidofovir
Viral DNA polymerase inhibitor that DOES NOT REQUIRE PHOSPHORYLATION by viral kinase to function
Can be used in pts with seizure disorder
Peutz Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; high GI cancer risk)
Hamartomatous GI polyps
Hyperpigmented macules on mouth/feet/genitals/hands
Henoch Schonlein purpura
MC childhood systemic vasculitis
Often follows URI
Associated with IgA- vasculitis from IgA complex deposition, C3 deposition
Skin- palpable purpura on buttocks/legs
GI- abdominal pain, melena, associated with intussusception
Kidneys- nephritis
Dx: tissue biopsy with IgA deposition
Tx: self limited
Feared result- kidney failure
Warfarin induced skin necrosis
Skin necrosis caused by paradoxical coagulation 3-5 days after starting warfarin
Warfarin initially drops the anticoagulative protein C and S before decrease in vitamin K dependent factors 2, 7, 9, 10.
Transient hypercoagulability- risk of thrombosis and warfarin induced skin necrosis
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Painless red lesions on palms and soles
MEN1 (AD)
Pancreatic
Pituitary
Parathyroid tumors
PDA (close with indomethacin, keep open with PGE analogs)
Continuous machine like murmur
Neurepileptic Malignant syndrome
Pts on dopamine blockers (haldol)
Muscle rigidity, fever, AMS, autonomic instability
LEAD PIPE RIGIDITY, HIGH CK
- muscles fixed and contracted
Hereditary hemorrhagic telangiectasia (Osler Weber Rendu syndrome)
Telangiectasias Recurrent epistaxis Skin discoloration AVMs GI bleed Hematuria
Pasteurella multocida (cellulitis at inoculation site)
Dog or cat bite resulting in infection
Ataxia telangiectasia
ATM mutation on 11q22.3
ATM codes for DNA damage check point and another region that has serine/threonine kinase activity
NHEJ contributes to VDJ recombination—> major mechanism for antibody and lymphocyte receptor diversity
Triad of: cerebellar atrophy, angiomas, IgA deficiency
Central chromatolysis
Reaction of neuronal cell body (soma) in response to axon injury
Swelling of neuronal body, dispersion of Nissl bodies, displacement of nucleus to periphery
Changes reflect increase in protein synthesis aimed at restoring damaged axon
Occurs concurrently with Wallerian degeneration
Spinal cord compression
Caused by compression of spinal cord from etiologies including
- intervertebral disc prolapse, rupture
- tumor, metastatic lesion in vertebrae
- abscess
- hemorrhage
Symptoms include
- back pain
- motor and sensory dysfunction distal to compression
- ANS symptoms- bladder, bowel dysfunction, orthostatic hypotension, loss of sweating below lesion
SLE
Butterfly facial rash and Raynaud phenomena in females
NF1
AD or spontaneous mutation of tumor suppressor NF1 on CHROM 17
Neurofibromas Cafe au lait spots Lisch nodules MR Seizures - meningiomas Pheochromacytomas
Paroxysmal nocturnal hemoglobinuria
Red/pink urine
Fragile RBCs
Meigs syndrome
Simultaneous occurrence of benign ovarian tumor (ovarian fibroma), as cities, and pleural effusion (usually right sided)
Ovarian fibroma have SPINDLE SHAPED CELLS
Carcinoid syndrome (R sided cardiac valve lesions, high 5 HIAA)
Cutaneous flushing
Diarrhea
Bronchospasm
anti Yo antibodies cause what?
Paraneoplastic cerebellar degeneration - ataxia, nystagmus, dysmetria, dysarthria
Abs against Purkinje cells
Caused by breast, ovarian, endometrial cancers
Ataxia telangiectasia
AR
ATM gene mutation—> defective dsDNA break repair—> tumors and immunodeficiency
Gait ataxia Spider angiomas- telangiectasias involving face and conjunctiva Immunodeficiency- esp IgA High AFP Increased risk of malignancy
Serotonin syndrome
Any drug that increases serotonin (SSRI, SNRI, LINEZOLID, TCAs, MAOI)
Triad:
- AMS
- Autonomic instability (diaphoresis, tachycardia, hyperthermia)
- Neuromuscular abnormalities (tremor, glomus, hyperreflexia, Babinski)
Watch for patient on anti depressants with fever, confusion, rigid muscles
Treatment: CYPROHEPTADINE (5HT antagonist)
Condylomata lata (secondary syphilis)
Smooth, moist, painless, wart like lesions on genitals
Fibrates MOA
Activation of PPAR alpha—> high lipoprotein lipase activity—> more rapid degradation of LDL and TGs and induction of HDL
Low LDL
higher HDL
Very low TGs
Side effects: myopathy, cholilithiasis, increased LFTs
Terbinafine MOA
Inhibits fungal squalene epoxidase- enzyme for fungal sterol synthesis
Resulting deficiency of ergosterol within fungal cell membrane —> cell death
Raynaud phenomenon (vasospasm in extremities)
Painful fingers/toes changing color from white to blue to red with cold or stress
Hereditary fructose intolerance
Aldolase B deficiency
Manifests as vomiting, poor feeding. Hypoglycemia, jaundice, hepatomegaly
Symptoms manifest around times of weaning
Tx: lifelong fructose and sucrose free diet
Pleiotropy
One gene contributes to multiple seemingly unrelated phenotypes
Explains how single gene can cause multiple organ disease involvement
Ie- PKU, Marfan, ataxia telangiectasia, SCD
MEN2A (AD RET mutation)
Thyroid
Parathyroid tumors
Pheochromacytomas
Gardner syndrome (FAP subtype)
Multiple colon polyps
Osteomas/soft tissue tumors
Impacted/supernumerary teeth
Guillain Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
Rapidly progressive limb weakness that ascends following GI/respiratory infection
Assoc with C. jejuni infection
Carbamoyl phosphate synthetase 1
Urea cycle disorder
Aortic regurgitation
Bounding pulses
Wide pulse pressure
Diastolic murmur
Head bobbing
Primary adrenocortical insufficiency—> High ACTH, high MSH (ie Addison dx)
Skin hyperpigmentation
Hypotension
Fatigue
Microscopic polyangiitis
Hemoptysis, kidney failure, purpura
NO UPPER AIRWAY DISEASE- no nasopharyngeal involvement
NO GRANULOMAS ON BX
MPO-ANCA/p-ANCA (anti myeloperoxidase)
Tx: steroids, cyclophosphamide
Crigler Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe jaundice in neonate
Patau syndrome (trisomy 13)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Mucor or Rhizopus fungal infection
Black eschar on patient with DKA
Radiation induced what type of cell damage?
- DNA ds breaks
2. Formation of free radicals
Slipped capital femoral epiphysis
Proximal femoral growth plate failure which causes posterior and inferior displacement of femoral head
Adolescent males (10-16) that are obese
Antalgic gait, restricted internal rotation and abduction
Fenofibrate MOA
Activation of lipoprotein lipase—> increased TG elimination
Thoracic outlet syndrome
Compression of neuro vascular structures (brachial plexus, subclavian artery/vein) as they pass from lower neck to armpit
Caused by trauma, tumors, presence of cervical rib
Cervical rib compresses lower trunk (C8-T1)
Test for TOS: Adson test- monitor radial pulse and abduct, externally rotate, and extend arm
Loss of pulse= compression of subclavian artery by cervical rib or hypertonic scalenes
Churg Strauss
Asthma, sinusitis, neuropathy (foot/wrist drop)
Eosinophilia, pauci immune glomerulonephritis
MPO-ANCA/p ANCA, elevated IgE
Palpable purpura
Granulomatous, necrotizing vasculitis
Can involve heart, GIT, kidneys
Tx: steroids, cyclophosphamide
Teres minor function
Adducts and external rotates shoulder
Innervated by axillary muscle
Acute leukemia
Myeloid or lymphoid (blast cells) lose ability to differentiate and have build up of blasts
Build up happens in bone marrow—> crowds out normal cells and spill into blood—> anemia (fatigue), thrombocytopenia (bleeding), neutropenia (infections)
> 20% blast cells= acute leukemia
Build up of lymphoid cells- acute lymphoid leukemia (+ TdT stain)
Buildup of myeloid cells- acute myeloid leukemia (+ myeloperoxidase stain and AUER RODS)
Down syndrome- high risk acute leukemia
Cryoglobulin
Abnormal Igs that form immune complexes and precipitate when cooled below 37.
Associated with Multiple myeloma HCV SLE RA
Reye’s syndrome
Encephalopathy, liver failure and fatty infiltration
S/s: vomiting, confusion, seizures, coma
Often follows viral illness (influenza, varicella) caused by diffuse mitochondrial insult
Assoc with aspirin use in children
ASA not for peds, only used in Kawasaki dx
Which part of bronchial tree has the highest contribution to total airway resistance?
Segmental bronchi (intermediate sized bronchi)- because of their low total cross sectional area
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and ASA)
Cervical LAD Desquamating rash Coronary aneurysms Red conjunctivae Strawberry tongue Hand/foot changes
Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)
No lactation postpartum
Absent menstruation
Cold intolerance
Tay Sachs (ganglioside accumulation) Niemann Pick (sphingomyelin accumulation) Central retinal artery occlusion
Cherry red spots on macula
LTC4/LTD4
Vasodilators
Bronchoconstriction
Aspergillus fumigatus
Fungus
Septate hyphae branch at ACUTE angles
Causes allergic bronchopulmonary aspergillosis
Chronic aspergillosis (including aspergilloma)
Invasive aspergillosis in immunocompromised
Dx: galactomannan antigen assay
Tx IV voriconazole
Subependymal giant cell astrocytoma (SEGA)
Lateral ventricular wall tumor composed of large ganglion like cells with prominent nuclei
Pathognomonic for tuberous sclerosis- renal angiomyolipomas, ash leaf spots, hamartomas, cardiac rhabdomyoma
G6PD Deficiency
X linked recessive
Normally, G6PD regenerates reduced glutathione, which is required for eliminating hydrogen peroxide and free radicals
In G6PD deficiency- RBCs susceptible to oxidative stress by hydrogen peroxide and free radicals
Oxidative stress denatures Hb—> precipitates as Heinz bodies
Bite cells can be seen—> macrophages selectively remove part of RBC membranes
Usually a symptomatic, sudden surge of oxidative stress (INFECTION, FAVA BEANS, ANTIMALARIALS, NSAIDS) lead to hemolytic crisis
Duchenne MD (Gowers sign)
Child uses arms to stand up from squat
anti Hu encephalitis
Paraneoplastic encephalomyelitis typically occurs in small cell lung cancer
Autoantibodies against neuronal Hu antigens
Plummer Vinson syndrome (may progress to esophageal SCC)
Esophageal webs (dysphagia) Glossitis Iron deficiency anemia
Waterhouse Friderichsen syndrome (meningococcemia)
Adrenal hemorrhage
Hypotension
DIC
5 positive acute phase proteins
Fibrinogen Ferritin Serum A amyloid hepcidin CRP
Stimulated by IL1, IL6, TNF a
Candida infections
T cells important for mucosal infections (HIV pts and thrush)
Neutrophils important for systemic defense (neutropenic pts and candidemia)
Polyarteritis nodosa
Necrotizing vasculitis of small/medium vessels
Renal artery involvement 60% cases- pre renal azotemia, HTN
Coronary artery involvement can cause CP
Messnteric involvement can cause mesenteric ischemia- melena, abdominal pain
ASSOC with HBV and HCV
Transmural inflammation w fibrinoid necrosis on arterial bx
Aneurysms + renal vessel stenosis
ACL injury
+ anterior drawer sign
Edwards syndrome (trisomy 18)
Microcephaly
Rocker bottom feet
Clenched hands
Structural heart defects
Meningioma
Benign, slow growing sharply demarcated mass composed of spindle shaped cells in whorled pattern—> onion peel arrangement
Arise from ARACHNOID layer
Psamomma bodies- concentric intracellular calcifications
Symptoms caused by compression of adjacent brain structures (focal seizures, spastic paralysis from motor cortex compression, personality changes)
Buerger’s disease aka thromboangitis obliterans
Medium vessel vasculitis
Male smokers
Poor blood flow to hands/feet—> gangrene and autoamputation of digits, can have superficial nodular phlebitis (tender nodules over course of vein)
Intermittent claudication
Raynaud’s syndrome
Segmental thrombosing vasculitis with vein and nerve involvement
Tx: smoking cessation
Glutamate (CNS)
Major excitatory neurotransmitter
NMDA receptor is target
In Huntington’s- neuronal death from glutamate toxicity—> glutamate binds NMDA receptor, excessive Ca influx, cell death
Polyaryeritis nodosa
IMMUNE COMPLEX MEDIATED—> type III HSR
HEPATITIS B+
Nerves: motor/sensory deficits
Skin: nodules, purpura
Kidneys: renal failure
“Rosary sign”- series of aneurysms and constrictions on arteriogram of kidney, liver, mesenteric arteries
Bx: transmural inflammation of medium vessel wall with FIBRINOID NECROSIS
HepB+, nerve deficits, skin nodules, purpura, renal failure
Dx with angiogram, Tx: steroids and cyclophosphamide
Visceral leishmaniasis
Parasitic disease caused by protozoa of Leishmania genus
Transmitter by infected phlebotomine sand fly
Presentation: recurrent fever, malaise, wt loss, LAD, hepatosplenomegaly, pancytopenia, edema, kala azar (darkening of skin on hands abs soles) in patient visiting east Africa (Kenya)
Tx AMPHOTERICIN B
Budd Chiari syndrome (post hepatic venous thrombosis)
Abdominal pain
Ascites
Hepatomegaly
PCV is risk
Mitral regurgitation murmur
High pitched holosystolic that radiates to axilla
Can present with dyspnea, cough, LHF symptoms (orthopnea, paroxysmal nocturnal dyspnea)
Cardiac cath shows rapid increase in LA pressure during ventricular systole
LA pressure increases as blood enters atrium both antegrade thru pulmonary veins and retrograde from LV
Parkinson disease (loss of dopaminergic neurons in substantial migration pars compacta)
Resting tremor Rigidity Akinesia Postural instability Shuffling gait
CLL
Smudged WBCs
“Crushed Little Lymphocytes”
Hypothyroidism
Cold intolerance
Weight gain
Brittle hair
Polymyositis
Endomysial infiltration of CD8+ cells
Associated with positive ANA, anti Jo abs
Proximal muscle weakness with elevated muscle and inflammatory markers
Negative acute phase reactants
Albumin
Transferrin
Transthyretin
Synthesis decreased by IL1, IL6, TNF a
T cell acute lymphoblastic lymphoma
TdT +
Surface markers: CD2-CD8
Presents as THYMIC MASS, in TEENS
MEN2B (AD RET mutation)
Thyroid tumors
Pheochromacytoma
Ganglioneuromatosis
Marfanoid habitus
Klebsiella PNA
Red currant jelly sputum in diabetic or alcoholic patients
Bacterial endocarditis
Splinter hemorrhages in fingernails
Plasmin
Main enzyme responsible for clot breakdown
Plasminogen converted to plasmin via tissue plasminogen activator (serine protease found on endothelial cells of blood vessels)
Recombinant tPa (alteplase, retelplase, tenecteplase used as thrombolytics in pts with ACS, PE, ischemic CVA
Plasmodium falciparum
Causes falciparum malaria
Found on all continents except Europe
Transmitted via Anopheles mosquito
Irregular fever spikes, muscle pain, HAs
P falciparum is chloroquine resistant
UMN damage
Hyperreflexia
Hypertonia
Babinski sign present
B symptoms of malignancy
Fever
Night sweats
Weight loss
Pott disease (vertebral TB)
Back pain
Fever
Night sweats
Babinski sign (UMN lesion)
Toe extension/fanning with plantar scrape
Secondary to EPO injection
Athlete with polycythemia
McBurneys sign (acute appendicitis)
RLQ pain with deep palpation
Meckels diverticulum
MC congenital anomaly of GIT
Dt incomplete obliteration of vitelline duct
Can have ectopic gastric tissue—> bleeding from Meckels diverticulum
Erythema infectiosum/fifth disease (slapped cheeks appearance, caused by parvovirus B19)
Child with fever, later on develops rash on face, rash spreads to body
Measles
Cough Conjunctivitis Coryza Fever Diffuse rash
Dermatitis herpetiformis
Associated with Celiac disease
Uncommon autoimmune rash with very itchy papules and vesicles on extensor surfaces
Caused by IgA and C3 deposition in dermal papilla
Resemble herpetic lesions
Strongylodiasis
Parasitic infection caused by nematode(round worm) Strongyloides stercoralis
Penetrates host via skin and migrates to lungs and intestines
Endemic to warm moist areas
S/s: fever, abd pain, n/v, SERPUGINOUS RASH, eosinophilia, recent travel to tropics
LTB4
Neutrophil, eosinophil chemotaxis
Dating error, anencephaly, spina bifida (open neural tube defects)
High AFP in amniotic fluid/maternal serum
Spinal cord lesion
Spastic weakness
Sensory loss
Bowel/bladder dysfunction
Pompe disease (lysosomal a1,4 glucosidase deficiency)
Myopathy (infantile hypertrophic cardiomyopathy)
Exercise intolerance
Epidural hematoma (middle meningeal artery rupture)
Lucid interval after TBI
Subarachnoid hemorrhage
“Worst HA of my life”
Myelodysplastic syndrome
Can lead to AML
Blast buildup in bone marrow
<20% blasts —> NOT AML
Pts will have cytopenias: infections, bleeding
Can progress to AML if blasts > 20%
Meniere disease
Episodic vertigo
Tinnitus
Hearing loss
Myeloid cells
Precursor cells of: RBCs Monocytes Granulocytes Megakaryocytes
Porphyria cutanea tarda
Defective uroporphyrinogen III carboxylase—> accumulation of uroporphyrinogen in skin and chronic photo sensitivity with blistering and hyperpigmentation
Blisters on face and dorsum of hands/forearms and dark urine in setting of sunlight exposure
Acquired (type I) form typically presents with liver disease
Congenital (type III) inherited AD
Familial hypercholesterolemia (low LDL signaling)
Achilles’ tendon xanthoma
Neurofibromatosis type 2
Bilateral vestibular schwannomas
Mycosis fungoides
Cutaneous T cell lymphoma
Can progress to Sezary syndrome (T cell leukemia)- systemic symptoms (wt loss, LAD) and CD4 cells with cerebriform shaped nuclei in peripheral blood
Reactive arthritis associated with HLA B27
Urethritis
Conjunctivitis
Arthritis in MALE
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dry eyes, mouth
Arthritis
Cerebellar lesion
Ataxia
Nystagmus
Vertigo
Dysarthria
Lesch Nyhan syndrome (HGPRT deficiency, x linked recessive)
Gout
MR
SELF MUTILATING BEHAVIOR IN BOY
Chvostek sign (hypocalcemia)
Facial muscle spasm upon tapping
Emphysema (“pink puffer,” centriacinar (smoking), panacinar (AAT deficiency)
Pink complexion
Dyspnea
Hyperventilation
Cancer of pancreatic head obstructing bile duct
Painless jaundice
Platelet disorders (ie Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)
Petechiae
Mucosal bleeding
Prolonged bleeding time
Coxsackie A virus
Secondary syphilis
Rocky Mountain Spotted Fever
Rash on palms and soles
Menetrier disease
Giant hypertrophic gastritis
Gastritis characterized by enlarged mucosal folds (rugae) dt hyperplasia of gastric mucosa
Causes excess mucus production, protein loss, parietal cell atrophy with decreased acid production
S/s:
Epigastric pain, weight loss, anorexia, EDEMA SECONDARY TO PROTEIN LOSS
Chronic mucocutaneous candidiasis
Defect in AIRE genes
AIRE function 1
- associates with dectin receptor, dectin responds to candida antigens
Result: recurrent candida infections
AIRE function 2
- promotes self antigen production in thymus, self antigens presented to T cells (negative selection)
Result- autoimmune T cells—> attack adrenal and parathyroid glands
High levels of IL10
T cells fail to react to candida AND endocrine dysfunction
Child with recurrent thrush, diaper rash
Jarisch Herxheimer reaction (rapid lysis of spirochetes results in endotoxin like release)
Fever
Chills
HA
Myalgia following abx treatment for syphilis
Nitrates overview
Increase release of NO in VSMCs-> smooth muscle relaxation and vasodilation
Veins more affected than arteries,
Therapeutic value from Venous pooling and decrease in preload
AES- hypotension and reflex tachycardia
- nitrate induced HA (cerebral artery dilation)
- development of tolerance (nitrate fee intervals)
- flushing, GERD
- CN toxicity after sodium nitroprusside
- methemoglobinemia (Hb de 3+ state)
- Monday disease
Contraindication in RIGHT VENTRICLE FAILURE and cannot take with PDE5 inhibitors, increased ICP
Mallory Weiss syndrome (bulimic and alcoholic patients)
Vomiting blood after linear gastroesophageal lacerations
Irinotecan, topotecan
Chemos
Inhibits topoisomerase I- causes ssDNA breaks—> prevent proper DNA replication, transcription, DNA repair which indices cell cycle arrest at late S phase or early G2
Bosentan, macicenten, ambrisenten
Bind and inhibit endothelin1 receptors
- endothelium is potent vasoconstrictor therefore blocking it causes vasodilation and reduction in vascular resistance
Used in Pulmonary Artery HTN
Becker MD (X linked non-frameshift deletion in dystrophin; less severe)
Slow, progressive muscle weakness in boys
Hemophilia A
Factor VIII deficiency
X linked recessive
Presents in boys with recurrent episodes of epistaxis, bruising, hemarthrosis
Normal platelet counts, bleeding time, and PT
PROLONGED aPTT
Osteosarcomas
Malignant osteoblasts that arise from mesenchymal cells within periosteum
Increased production of osteosarcoma matrix and formation of poorly organized bone networks
Cause periosteal reactions- Codmans triangle and/or sunburst appearance on XR
Dermatomyositis
Perimysial inflammation with peri vascular infiltration of CD4+
Capillary damage abs muscle atrophy
Symmetrical proximal muscle weakness and skin involvement - Gottrons papules, heliotrope rash, shawl sign
Associated with malignancy
Acute megakaryoblastic leukemia
No myeloperoxidase
Assoc with DOWN SYNDROME before age 5
Mesolimbic pathway
Target of antipsychotics in schizophrenia
Dopaminergic pathway involved in reward system. Over stimulation can cause positive symptoms (hallucinations)
Ehlers Danlos syndrome (type V collagen defect, type III in vascular subtype)
Elastic skin
Joint hypermobility
Bleeding tendency
Acute promyelocytic leukemia (APL) Aka AML M3
AML subtype
t(15;17)
Retinoic acid receptor dysfunction—> buildup of promyelocytes—> BUILDUP OF AUER RODS—> HIGH coagulation risk—> medical emergency from DIC risk
Tx w all trans retinoic acid—> forces blasts to differentiate into neutrophils
Basal ganglia lesion
Resting tremor
Athetosis
Chorea
Down syndrome (trisomy 21)
Single palmer crease
Drug induced lupus
Fever, joint pins, rash after starting drug
+ ANTI HISTONE ABS
Hydralazine, isoniazid, procainamide
Pterion fracture lacerated what vessel?
Middle meningeal artery, which is a branch of the maxillary artery
Skull fx at this site can cause laceration to middle meningeal artery and cause epidural hematoma
Osteogenesis imperfecta (type I collagen defect)
Blue sclera
Kartagner syndrome (dynein arm defect affecting cilia)
AR
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility- both men and women, high risk ectopic pregnancy
LOW NASAL NITRIC OXIDE USED AS SCREENING TEST
Nephrotic syndrome
Periorbital and/or peripheral edema
Proteinuria (> 3.5g/day)
Hypoalbuminema
Hypercholesterolemia
Hyper IgE syndrome (Job syndrome)
Defective CD4+ Th17
LOSS OF ATTRACTION OF NEUTROPHILS
Defect of STAT3 signaling
HIGH LEVELS OF IgE, high eosinophils
Loss of IFN gamma
Diffuse eczema, recurrent “cold” abscesses- staph abscesses
Recurrent sinusitis, facial deformities, RETAINED PRIMARY TEETH
Staphylococcal scalded skin syndrome
Blistering skin disorder results from toxemia after S aureus infection (usually of nasopharynx)
Cleavage of DESMOGLEIN 1 by exfoliative toxin- disruption of keratinocyte attachment
- fever, malaise, often beings periorally
POSITIVE NIKOLSKY SIGN
- flaccid, easily ruptured blisters that break and reveal moist red skin (scalded appearance)—> widespread sloughing of epidermal skin
NO MUCOSAL INVOLVEMENT
Subscapularis function in rotator cuff
Internal rotator of shoulder
Originates coastal surface of scapula and insterts into lesser tubercle of humerus
Innervated by upper and lower subscapular nerves
DKA (Kussmaul respirations)
Deep labored breathing/hyperventilation
Gaucher disease (glucocerebrosidase (b-glucosidase) deficiency
Hepatosplenomegaly Pancytopenia Osteoporosis AVN femoral head Bone crises
Courvoisier sign (distal malignant obstruction of biliary tree)
Jaundice
Palpable, painless distended gallbladder
Acute myeloid leukemia
AUER RODS- aggregates of myeloperoxidase, ONLY in myeloblasts
Adults 50-60
Myxedema (caused by hypothyroidism, Graves’ disease (pretibial))
Cutaneous/dermal edema dt deposition of mucopolysaccharides in connective tissue
von Hippel Lindau disease (dominant tumor suppressor mutation)
Bilateral renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromacytomas
Amniotic band syndrome
Tear in amnion of amniotic sac exposes multiple loose fibrous bands—> bands entangle and constrict parts of fetus—> breakdown of normal fetal tissue (DISRUPTION)
Severe construction can cause autoamputation
Wilson disease (Kayser Fleischer rings dt copper accumulation)
Golden brown rings around peripheral cornea
Fanconi anemia (genetic loss of crosslink repair; often progresses to AML)
Short stature Cafe au lait spots Thumb/radial defects Aplastic anemia High incidence of tumors/leukemia
Monoblasts AML (acute monocytic leukemia)
Build up of monoblasts
Lack myeloperoxidase
INFILTRATES GUMS
Wet beriberi (thiamine (B1) deficiency)
Dilated cardiomyopathy
Edema
Alcoholism or malnutrition
Gout/podagra (hyperuricemia)
Sudden swollen/ painful big toe
Tophi
Granulomatosis with polyangiitis (Wegener’s)
Sinusitis, otits media, hemoptysis, perforation of nasal septum, mastoiditis (upper and lower respiratory involvement)
Renal- hematuria and red cell casts
Purpura
Necrotizing granulomas in lungs/upper airway and necrotizing glomerulonephritis
PR3-ANCA/c-ANCA (anti proteinase 3)
Tx: steroids, cyclophosphamide
Marfan syndrome (fibrillin defect)
Arachnodactyly
Lens dislocation (UPWARD and OUT)
Aortic dissection
Hyperflexible joints
LMN facial nerve (CN VII) palsy; UMN lesions spare forehead
Unilateral facial drooping involving forehead
Phencyclidine (angel dust, PCP)
Stimulant drug that activates glutamate receptors and antagonizes NMDA receptors—> dissociative hallucinations
Ingested by smoking it
S/s: violent abnormal behavior, nystagmus, HTN, hyperthermia
Tx: benzodiazepines for agitation and haldol for psychosis
Tuberous sclerosis
Mutation in tumor suppressors TSC1 (hamartin) or TSC2 (tuberin)—> altered hamartin-tuberin complex—> cannot switch off mTOR—>benign tumors
Autosomal dominant
In brain: glioneural hamartomas, subependymal nodules, high risk of subependymal giant cell astrocytoma
Skin: angiofibromas, subungual fibromas, ash leaf spots, shagreen spot
Renal: angiomyolipomas
Lungs: lymphangioleiomyomatomatosis- normal tissue replaced by cysts
Retina: retinal hamartomas
S/s: seizures, MR, flank pain, SOB, vision changes
Roth spots (bacterial endocarditis)
Retinal hemorrhage with pale centers
Tachyphylaxis
Rapid, diminished response to consecutive doses of a drug dt depletion of endogenous mediators
Ie NIACIN, NITROGLYCERIN, PHENYLEPHRINE, LSD, MDMA
