Questions (Random) - Kaplan Flashcards
Newborn, coarse facial features (thick gums, large tongue, etc.), clouded corneas, dislocations, clubbing of feet, immobilization. High plasma levels of lysosomal enzymes.
Problem?
I-cell disease (mucolipidosis type 2) – AR lysosomal storage disease
- N-acetylglucosaminyl-1-phosphotransferase defect
- Can’t phosphorylate mannose residues on glycoproteins
Hemorrhage and necrosis in the centrilobular regions of liver parenchyma, no fibrosis or steatosis. Mottled/spotted pattern on cross-section.
Chronic CHF – NUTMEG LIVER (congestive hepatopathy)
Baby, delayed motor development, spasticity, self-mutilation (biting fingers, banging head), nephropathy
Defect?
Build-up?
Treatment?
Lesch-Nyhan syndrome
HPRT/HGPRT (can’t recycle purines)
Uric acid (MSU)
Allopurinol (XO inhibitor)
Baby, HSM, erosion/fractures of bone, thrombocytopenia/pancytopenia, crumpled-paper inclusions in macrophages
Defect?
Build-up?
Gaucher’s disease
Glucocerebrosidase
Glucocerebroside
Baby, megaloblastic anemia that does not respond to B12/folate supplementation. Accumulation of crystals in urine.
Defect?
Build-up?
Orotic aciduria
Defective pyrimidine synthesis
Orotic acid
Marfan vs. Ehlers Danlos vs. Homocysteinuria
M = Upward lens dislocation, usual S/S
ED = skin hyperextensibility, abnorma wound healing
H = Downward lens dislocation, hypercoaguable, mental issues
Metabolic alkalosis Hyperglycemia Hyperlipidemia Hyperuricemia Hypercalcemia
HCTZ overdose (HyperGLUC)
Basophilic stippling Neuropathy Anemia Kidney dysfunction Abdominal pain
Chronic lead toxicity
CNS atrophy
Gingivitis
Gastritis
Renal tubular changes
Chronic mercury toxicity
Child, mid-systolic ejection murmur at L upper sternal border, fixed splitting of S2
Atrial septal defect
Latent viruses in the…
- Trigeminal ganglia
- Sacral ganglia
- Dorsal root ganglia
- B cells
- Mononuclear cells
- HSV1 (oral)
- HSV2 (genital)
- VZV
- EBV
- CMV
MoA of…
- Isoproterenol
- Atropine
- Norepinephrine
- Epinephrine
- Phentolamine
Iso -- Beta1 = Beta2 agonist Atro -- Muscarinic antagonist Nor -- Alpha1 > alpha2 > beta agonist Epi -- Beta > Alpha agonist Phen -- Alpha antagonist
Hemophilia A and B – inheritance?
X-linked recessive
Treatment for Lyme disease
Doxycycline
Tamoxifen vs. Raloxifene…
- Bone
- Breast
- Endometrium
BOTH = agonist at bone, antagonist at breast
Tamoxifen = agonist at endometrium Raloxifene = antagonist at endometrium
Baby, mental deterioration, atrophy, difficulty swallowing, easily startled, cherry red spots
Defect?
Build-up?
Inheritence?
Tay-Sachs
HEXA (Hexosaminidase A)
GM2 gangliosides - in neurons
Autosomal recessive
How to calculate interstitial fluid volume via Albumin VOD (volume of distribution) and Inulin VOD?
Inulin VOD = extracellular fluid volume
Albumin VOD = plasma fluid volume
Interstitial fluid volume = ECF - plasma volume
E-cadherin mutation (CDH1) – susceptible for?
Forms what molecular structure between cells?
Infiltrating lobular carcinoma
Gastric adenocarcinoma
Adherens junctions
APC – what type of mutation is required for the syndrome to occur?
What does the gene do?
LOSS (deletion, etc.)
Degrades catenin, thus inhibits cellular proliferation
AIRE mutation
Autoimmune hypoparathyroidism
- Mucocutaneous candidiasis
- Hypocalcemia
- Other impaired endocrine organs
MHC class 2 deficiency
SCID
ads
Causes of DIC
- Trauma
- Obstetric complications
- Malignancy
- Pancreatitis
- Nephrotic syndrome (loss of AT3)
- Gram (-) sepsis
DIC…see what on PBS?
Why?
See these in what else?
Helmet cells, schistocytes
Microangiopathic hemolytic anemia
HUS, TTP, mechanical heart valves
DIC…symptoms
Bleeding from mucosal surfaces Thrombocytopenia High PT and PTT Low fibrinogen High fibrin split products (D-dimer)
What is a Pearson correlation?
Seeing if there is a relationship between 2 variables, if the relationship is direct or inverse, and how close the relationship is.
‘r’ = -1 or 1 when the relationship is perfectly linear
What is a t-test used for?
Example?
Comparing the means of 2 groups of data
Ex. Average BP of men vs. women
What is an ANOVA used for?
Example?
Comparing the means of 3+ groups of data
Ex. Average BP of 3+ different age groups
What is a Chi-square used for?
Example?
Comparing percentages or proportions of 2+ groups of data
Ex. Percentage of each ethnic group w/ HTN
What can be seen in a baby after gestational uncontrolled diabetes? (w/ causes for each) (3)
- Macrosomia (insulin = anabolic)
- RDS (insulin inhibits surfactant)
- Transposition of great vessels
Causes of CONGENITAL cyanosis
5 T’s
- Truncus arteriosis
- Tricuspid atresia/stenosis
- Tetralogy of Fallot
- Transposition of great vessels
- Total anomalous venous return
How to fully diagnose HIV positivity?
If the result is questionable?
Common first positive finding upon infection?
Positive HIV ELISA + Positive Western Blot for 2+ antigens (gp120, gp41, p24)
Confirm or deny w/ RT-PCR
P24 antigen and anti-p24 antibodies
Teenage girl Inguinal hernia Amenorrhea Immature female external genitalia No uterus
Explain.
Androgen insensitivity syndrome
- Genotypic male (w/ testes)
- Female external genitalia forms as DEFAULT
- No internal genitalia (except 1º) form b/c no androgens
Infant w/ hyponatremia and hyperkalemia
OR
Child w/ precocious puberty and virilization
Explain.
Elevated labs?
21-hydroxylase deficiency
Aldosterone and Cortisol inhibited, EXCESS ANDROGENS
17-hydroxyprogesterone, renin
Ambiguous genitalia, undescended testes, no 2º sex characteristics, hypertension, hypokalemia
Explain.
17-hydroxylase deficiency
No androgens
Virilization, hypertension, low renin, low cortisol
Explain.
11-beta-hydroxylase deficiency
No cortisol, excess 11-deoxycorticosterone (MC), excess androgens
Incomplete genital plate canalization
Imperforate hymen
Painful, enlarged lymph node
Variable fevers, chills
No other abnormal signs or labs
Pathology of LN = necrosis w/ granuloma
Cat-Scratch Disease (Bartonella henselae)
When are soap-based products particularly preferred over the alcohol-based gels for hand-washing?
Spore-forming bacteria
X-linked recessive disorders
Oblivious Female Will Often Give Her Boys Her x-Linked Disorders
Ornithine transcarbamylase deficiency Fabry disease Wiskott-Aldrich syndrome Ocular albinism G6PD deficiency Hunter syndrome Bruton agammaglobulinemia Hemophilia A and B Lesch-Nyhan syndrome Duchenne/Becker muscular dystrophy
How to calculate total peripheral resistance using MAP, CO, and RAP
How to remember this?
CO = (MAP-RAP)/TPR TPR = (MAP-RAP)/CO
P = QR (alphabetical)
Leukocyte adhesion deficiency…
- What is it?
- Mutation?
- Symptoms?
Impaired neutrophil extravasation into tissues
Defect in LFA1 (beta-2 integrins, CD11/18)
Recurrent bacterial and fungal infections
Delayed wound healing
Metoprolol…common side effect? (not related to sympathetics)
Dyslipidemias
The bulbis cordis becomes what?
The sinus venosus becomes what (R and L)?
Smooth part of R (conus arteriosus) and L (aortic vestibule) ventricles
R = smooth part of R atrium (sinus venarum) L = coronary sinus, oblique vein of L atrium
Infections that can be passed via DIRECT CONTACT?
- C. diff., E. coli O157:H7
- RSV, HSV, enterovirus, parainfluenza
- Impetigo
- MRSA, VRE
- Scabies
- Staph and group A strep (skin)
Good drug class for allergies? Members?
What side effects are possible? (3) Which ones for each?
Anti-histamines – diphenhydramine, promethazine, chlorpheniramine, meclizine, cetirizine, loratadine, fexofenadine
Antimuscarinic (the first 4)
Sedation (the first 4 especially)
Anti-motion sickness (meclizine, diphenhydramine)
Decongestants w/ alpha-1 agonist activity
Should NOT be used in who?
Phenylephrine
Ephedrine
Pseudephedrine
BPH or HTN
Fever
Vesicular rash w/ macules, papules, pustules, and scabs all present together. Started on trunk. Unvaccinated or hasn’t had boosters in years
Chickenpox – VZV
Erythematous sandpaper-like rash w/ fever and sore throat
Scarlet fever (strep pyogenes)
Pink coalescing macules on head that move downward as desquamating rash w/ LAD
If in a fetus?
Rubella
Rash, LAD, polyarthritis (of mom)
Cataracts, deafness, patent PDA (in baby)
Cough, stuffy nose, conjunctivitis, spots on buccal mucosa
Later, rash on head that spreads down.
Measles (koplik spots)
Several days of high fever, followed by rose-colored macules on body
Roseola (HHV6)
Oval-shaped vesicles on palms and soles, vesicles and ulcers in oral mucosa
Hand-Foot-Mouth (Coxsackie A)
Chorioretinitis, hydrocephalus, intracranial calcifications
Toxoplasma gondii
Hallucinations upon waking or upon falling asleep
Paralysis during hallucinations
Explain.
Narcolepsy
Intrusion of REM sleep into the waking period, causing hallucinations (like dreams) and paralysis (b/c paralyzed during REM sleep)
How does PCO2 level relate to cerebral blood flow?
High PCO2 = increased blood flow, decreased resistance
Low PCO2 = decreased blood flow, increased resistance
Mental status changes
Tachycardia
Hypoxemia (low O2 sat)
What else might be in the stem?
Pulmonary embolism
Recent trauma or long stasis/immobility
Muscle wasting, cataracts, heart block
Mutation?
Myotonic dystrophy
CTG repeats in DMPK protein
A man with advanced AIDS has which type of anti-HIV immunoglobulins? Why?
IgM…
(1) Too few T-cells left to promote advanced Ig production
(2) Constant-changing envelope antigens (gp) = new Abs
What are microvilli? Where? Composed mainly of what?
Genetic mutation in infant? Presents like what?
Small projections in GI tract to increase surface area
Composed of actin/myosin microfilaments
MYO5B mutation (myosin Vb) = MICROVILLUS ATROPHY = secretory diarrhea in newborn
Baby/child w/ vomiting, tachypnea, lethargy Recently drank cow's milk (example) High ammonium level in the blood No citrulline High urine orotic acid High plasma glutamine
Explain?
Why the orotic acid?
Why the glutamine?
What are the symptoms from?
Ornithine transcarbamylase (OTC) deficiency
Deficient UREA CYCLE, thus build-up of ammonium
Escape of excess carbamoyl phosphate –> pyrimidine synthesis –> OROTIC ACID SYNTHESIS
Liver tries to rid of ammonium by making glutamine
Symptoms = HEPATIC ENCEPHALOPATHY
Mental retardation
High urine orotic acid
Hypochromic, megaloblastic anemia refractory to folate/B12
UMP synthase deficiency (pyrimidine synthesis)
Baby/child w/ vomiting, tachypnea, lethargy Recently drank cow's milk (example) High ammonium level in the blood No citrulline High plasma glutamine Normal orotic acid level
Carbamoyl phosphate synthetase deficiency (urea cycle)
Causes of renal papillary necrosis
POSTCARDS (Send postcards to the dying papillae)
- Pyelonephritis - Obstruction of tract - Sickle cell - TB - Chronic liver disease - Analgesic/alcohol abuse - Renal transplant rejection - Diabetes mellitus - Systemic vasculitis
Sounds like anthrax eschar
Gram negative rods
Pseudomonas – ecthyma gangrenosum
Increased pyruvate, lactate, alanine, and ketoacids
Pyruvate carboxylase (formation of oxaloacetate) deficiency - Can't start the Krebs cycle
Sickle cell disease
Renal papillary necrosis
What arteries are most likely affected? Why?
Sickle cell nephropathy
VASA RECTA – high osmolarity, low O2 in the renal medulla causes sickling –> necrosis of papillae
What is released by muscles during exercise that leads to vasodilation (BEFORE N.O. is produced)?
Adenosine, K+, lactic acid
Fever, confusion, thrombocytopenia, renal failure, petechiae
TTP - pentad - ADAMTS 13 protease deficiency
CGD - what is it?
Susceptible to what? Main ones? (5)
NADPH oxidase deficiency
Susceptible to CATALASE-POSITIVE organisms…
- Staph aureus
- Aspergillus
- Salmonella
- Nocardia
- Candida
Major bacteria w/ protective capsules
Some Killers Have Pretty Nice Capsules
- Strep pneumoniae
- Klebsiella
- Haemophilus influenza
- Pseudomonas
- Neisseria meningitidis
- Cryptococcus
What is a…
- Prophage - Bacteriophage
Prophage = repressed temperate phage DNA w/in a bacterial chromosome that gives it additional
Bacteriophage = virus that infects bacteria and may provide a virulence factor for that bacteria
2 examples of drug-resistance that come from bacteriophage
Staph aureus – Vancomycin resistance
Pseudomonas – Imipenem resistance
What is a transposon?
Most common cause for developing what?
Mobile segments of DNA that can “jump” into different DNA strands through the use of a transposase enzyme
Multi-drug resistance
Examples of bacterial toxins that come from lysogenic conversion (via a phage)?
- Cholera toxin
- Strep pyogenes pyrogenic exotoxin (Scarlet fever)
- Shigella dysentery toxin
- Diphtheria toxin
A child develops shingles. He is being treated for cancer w/ chemo. His mom has a history of a rash while pregnant. What is the most likely explanation?
What causes the reactivation? (2)
Mother got varicella during 3rd trimester, passing antibodies to child. Child was exposed to VZV, never developed a strong immune response. Reactivation happened earlier than normal.
Immunocompromised (ex. chemo) or stress
Why can influenza viruses create new strains of itself (ex. H1N1)?
Segmented genome –> can go through “recombination” of its genome when co-infected w/ another influenza strain
HSV encephalitis…finding on MRI?
CSF findings?
TEMPORAL LOBE localization
Elevated lymphocytes and protein, normal glucose
Encephalitis, summer months, viral CSF findings…suspect what?
Arthropod (mosquito) born viruses
- SLEV, WNEV, EEV, WEV
Encephalitis vs. meningitis
Meningitis – normal cognitive function
Encephalitis – cognitive, motor, and sensory deficits; seizures; AMS
Child has a rash on cheeks that progress to net-like pattern on body
Fifth disease - Parvo B19
Fever, headache, malaise, rash on palms and soles. Spent time outside recently.
Vector?
Also can carry what?
RMSF
Wood tick (Dermacentor)
Francisella tularensis
Unreactive nitroblue tetrazolium test
Means what?
Organisms?
CGD - deficiency of NADPH oxidase
Subject to catalase-positive organisms (pyogenic organisms)
Staph aureus, Serratia, E. coli, Aspergillus, Candida
Defective tyrosine kinase
Bruton X-linked hypogammaglobulinemia
Lack of B cell maturation, very few antibodies
Subject to extracellular organisms
Defective IL-2 receptor
Severe combined immunodeficiency – NO immune response possible
Thrombocytopenia, immunodeficiency, eczema
Defect type?
Wiskott-Aldrich (WAS protein)
Cytoskeletal defect
Drug causes of SIADH
How to remember?
Carbamazepine, Cyclophosphamide, SSRIs
“Can’t Concentrate Serum Sodium”
Drug causes of Fanconi syndrome
Tenofovir, Ifosfamide
Drug causes of hemorrhagic cystitis
Cyclophosphamide, Ifosfamide
Drug causes of diabetes insipidus
Lithium, Demeclocycline
Drug causes of hyperglycemia
How to remember?
Tacrolimus, Protease inhibitors, Niacin, HCTZ, Corticosteroids
Taking Pills Necessitates Having glucose Checked
Drugs causing hypothyroidism
Lithium, Amiodarone, Sulfonamides
Drugs causing hot flashes
Tamoxifen, Clomiphene
Muscarinic AChRs…receptor type?
GPCR
Drugs that inhibit P450
How to remember?
Acute Alcohol Abuse, Ritonavir, Amiodarone, Cimetidine/Ciprofloxacin, Ketoconazole, Sulfonamides, INH, Grapefruit, Quinidine, Macrolides
AAA RACKS IN GQ Magazine
Drugs that induce P450
How to remember?
Chronic alcohol, St. Johns wart, Phenytoin, Phenobarbitol, Nevirapine, Rifampin, Griseofulvin, Carbamazepine
Chronic Alcoholics Steal Phen-Phen And Never Refuse Greasy Carbs
Drugs that cause seizures
How to remember?
Isoniazid, Bupropion, Imipenem, Tramadol, Enfluorane
With seizures, I BITE my tongue
Drugs that cause Parkinson rigidity
How to remember?
Antipsychotics, Reserpine, Metoclopramide
Cogwheel rigidity of the ARM
Drugs that cause interstitial nephritis
Furosemide, NSAIDs, Methicillin
Drugs causing coronary vasospasm
Cocaine, Sumatriptan, Ergot alkaloids
Drugs causing flushing
How to remember?
Vancomycin, Adenosine, Niacin, CCBs, Echinocandins
VANCE
Drugs that cause dilated cardiomyopathy
Anthracyclines (Doxorubicin, daunorubicin)
Drugs that cause Torsade de Pointes
How to remember?
AntiArrhythmics (1a, 3) AntiBiotics (Macrolides) AntiCychotics (Haloperidol) AntiDepressants (TCAs) AntiEmetics (Ondansetron)
ABCDE
Pufferfish toxin…name?
Symptoms?
Tetrodotoxin
Binds fast VG sodium channels in nerve/heart
–> N/D, paresthesias, weakness, dizziness, loss of DTRs
Symptoms of cholinergic poisoning, just went out for seafood. What did he eat?
Cause?
Ciguatoxin – barracuda, snapper, moray eel
Opens Na channels, causing depolarization
Patient thinks he’s allergic to fish. Anaphylactic-like reaction upon eating dark fish (tuna, mahi, mackerel, bonito)
Scombroid poisoning (histamine) – converted from histidine by bacterial enzyme –> anaphylaxis-like reaction
Direct Coomb’s positive hemolytic anemia…drug causes?
Methyldopa, Penicillin
How to remember selective vs. nonselective beta blockers?
Selective (beta-1) = A-M
Nonselective (1 and 2) = N-Z
Heart, kidney, skin, brain masses…disease?
Tuberous sclerosis
Side effects of lithium
Tremor
Hypothyroidism
Nephrogenic DI
Ebstein anomaly
Red spots on face and palate History of nose bleeds History of seizures History of melena Polycythemia Presents with severe headache
Disease? Current headache?
Hereditary hemorrhagic telangiectasias (HHT)
Subarachnoid hemorrhage due to ruptured AVM
Risk factors for neural tube defects
Folate deficiency Maternal diabetes Antiepilepsy drugs (Valproate, Carbamazepine)
Myeloschisis vs. Myelomeningocele – labs
Schisis = increased AFP and AChE
MM, meningocele = increased AFP only
Tuberous sclerosis…lesions?
Cortical/subcortical tubers Subependymal nodules Cardiac rhabdomyoma Cortical and retinal hamartoma Renal angiomyolipoma Adenoma sebaceum Ash-leaf spots Giant cell astrocytomas Mental retardation/seizures
Von Hippel Lindau…lesions?
Retinal hemangioblastomas
Renal cell carcinoma
Pheochromocytoma
Polycythemia
What is the VHL gene?
Tumor suppressor gene for HIF, which causes cell survival and vascular proliferation
NF1…lesions?
CAFE SPOT - Cafe au lait spots, axillary freckling, eye lesions (Lisch nodules), scoliosis, pheo, optic tumors (glioma)
NF2…lesions?
Acoustic neuromas (b/l), meningioma, juvenile cataracts
Sturge-Weber disease
Port wine stain Vascular lesion in V1/V2 dermatome Leptomeningeal vascular malformation Cortical calcifications Glaucoma Seizures
Girl recently started her period, now has high fever, nausea, diarrhea, and a diffuse erythematous rash all over her body
Toxic shock syndrome (from tampon) – Staph. aureus
Shellfish, chronic liver disease, watery diarrhea, fluid-filled vesicles on legs, hypotension, death
Vibrio vulnificus
Functions of anaphylatoxins
- Degranulation
- SM contraction
- Chemotaxis
Patient with low BP, altered mental status, fever, warm extremities…blood cultures w/ E. coli
Most important immunology factor?
Why is the BP low?
Why are the extremities warm?
Septic shock (via gram (-) LPS lipid A)
TNF-alpha (–> IL-1, IL-6, etc.)
Systemic vasodilation –> low BP
Increased blood to extremities –> warm skin
Why are extremities cool in certain types of shock?
Decreased C.O. (hypovolemic, cardiogenic) –> reflex vasoconstriction –> less blood flow –> cool skin
Increased C3a, C5a, histamine…cause?
Type 1 hypersensitivity (ex. anaphylaxis)
What is the APACHE II score?
Score used to predict hospital mortality based on the worst variables during the initial 24 hours in the ICU
Boy w/ long flat face, flat feet, large ears, heart murmur, flapping hands and chewing on them
What is it?
Fragile X Syndrome
CGG repeat
Which trinucleotide repeat diseases have which repeat?
What genes go with each?
X-Girlfriend’s First Aid Helped Ace My Test
Fragile X = cGg (FMR1)
Friedreich ataxia = gAa (FXN)
Huntington = cAg (Huntingtin)
Myotonic dystrophy = cTg
Chromosome 16 Chromosome 5q Chromosome 4 Chromosome 17q Chromosome 15 Chromosome 22q Chromosome 3p
What are all of these?
16 = ADPKD (1) 5q = FAP 4 = Huntington (Huntingin) 17q = NF-1 15 = Marfan (fibrillin) 22q = NF-2 3p = VHL
AUTOSOMAL DOMINANT
Chromosome 7
Chromosome 13
CF
Rb
Autosomal recessive diseases
Albinism ARPKD CF Glycogen storage diseases Hemochromatosis Kartagener syndrome Mucopolysaccharidoses (except Hunter) PKU Sickle cell Sphingolipidoses (except Fabry) Thalassemias Wilson's
Down syndrome…increased risk for what cancers?
Most cases of DS due to what genetics?
ALL, AML
Meiotic nondisjunction (in older age women)
Mental disability, rocker-bottom feet, small jaw, low-set ears, clenched hands w/ overlapping fingers, prominent occiput, heart disease
Findings on screening?
Trisomy 18 (Edwards syndrome)
1st trimester = low PAPP-A, low free beta-HCG
Quad screen = low AFP, low beta-HCG, low estriol, low/normal inhibin A
Mental disability, rocker-bottom feet, small eye(s), small head, cleft lip/palate, holoprosencephaly, polydactyly, heart disease, missing skin in areas
1st trimester screening results?
Trisomy 13 (Patau syndrome)
Low free beta-HCG, low PAPP-A
High nuchal translucency, hypoplastic nasal bone
Down syndrome
1st trimester = low PAPP-A, high beta-HCG
Down syndrome
Quad screen = low AFP, high beta-HCG, low estriol, high inhibin A
Down syndrome
Microcephaly, mental disability, high-pitched cry, epicanthal folds, ventricular septal defect
Genetics?
Crit-du-chat
Microdeletion on 5p
Chromosome 3
VHL, RCC
Chromosome 4
ADPKD (2), achondroplasia, Huntington
Chromosome 5
Cri-du-chat, FAP
Chromosome 6
Hemochromatosis (HFE)
Chromosome 7
WIlliams syndrome, CF
Chromosome 9
Friedreich ataxia
Chromosome 11
Wilms tumor, sickle cell, beta-thalassemia
Chromosome 13
Patau, Wilson disease, Retinoblastoma, BRCA2
Chromosome 15
Prader-Willi, Angelman, Marfan
Chromosome 16
ADPKD (1), alpha-thalassemia
Chromosome 17
NF-1, BRCA-1
Chromosome 18
Edwards
Chromosome 21
Down syndrome
Chromosome 22
NF-2, DiGeorge (22q11)
X chromosome
Fragile X, X-linked agammaglobulinemia, Klinefelter (XXY)
Prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips
Elfin facies (Williams syndrome – chromosome 7)
Prominent forehead, upturned nose, small mandible, hypercalcemia, very friendly with strangers, cardiovascular problems
Williams syndrome - chromosome 7
Stapedius muscle innervation
Relevance?
Facial nerve (CN 7)
Facial nerve lesion –> hyperacusis
Spinal muscular atrophy type 1…other name?
What is it?
Causes what?
Werdnig-Hoffman syndrome
Failure to turn OFF perinatal apoptosis mechanism
Denervation (LMN) to muscles –> hypotonia, poor suckling, respiratory failure, etc.
Tacrolimus
Macrolide immunosuppressant from Streptomyces tsukubaensis…inhibits calcineurin-mediated transcription of IL-2
Daclizumab, Basiliximab
Antibodies…IL-2 receptor inhibitors
Involuntary muscle twitching
Non-rhythmic conjugate eye movements
An abdominal mass that crosses the midline
What will be seen on labs?
Neuroblastoma – opsoclonus-myoclonus syndrome
Elevated homovanillic acid
Amplified N-myc
Why do Japanese people commonly have gastric adenocarcinoma?
Polycyclic hydrocarbons in the smoked fish of their diets, and nitrites in preserved foods
Causes of DIC (pneumonic)
STOP Making New Thrombi
Sepsis Trauma Obstetric complications Pancreatitis Malignancy (adenocarcinoma, APL) Nephrotic syndrome Transfusion reaction
Source of new skin for healing of damaged epidermis
Epidermal stem cells in hair follicles and sweat glands of the dermis
At which day will each of these occur?…
- Conjoined twins
- Dichorionic Diamniotic
- Monochorionic Diamniotic
- Monochorionic Monoamniotic
After day 12
Days 1-3 (morula)
Days 4-8 (blastocyst)
Days 8-13 (implanted blastocyst)
What is contained in the medial umbilical fold?
What artery does this arise from?
Umbilical artery
Internal iliac artery
What is injured in a stab wound in the…
- R 2nd intercostal space (sternal border)
- R 3rd intercostal space (sternal border)
- L 4th or 5th intercostal spaces (sternal border)
- L 3rd, 4th, or 5th intercostal spaces at midclavicular line
- Behind the manubrium
Ascending aorta SA node (R atrium) R ventricle (moderator band) L ventricle (mitral valve chordae tendonae) L brachiocephalic vein
Which salivary gland is each one describing?…
- Mostly mucus cells
- Mix of mucus and serous cells
- Mostly serous cells
Sublingual
Submandibular
Parotid
Freckles all over the body
Intestinal hamartomas
Risk for what?
Peutz-Jeghers
GI carcinoma of some kind
Colonic polyposis Bone osteomas Desmoid tumors Soft-tissue tumors Retinal hyperplasia
Gardner syndrome
Colonic polyposis
Glioblastoma
Turcot syndrome
Explain the connection with alcoholism, magnesium, and calcium
Alcoholism –> chronic magnesium deficiency –> decreased PTH secretion –> functional hypoparathyroidism –> hypocalcemia
Uveitis
Recurrent genital ulcers
Recurrent oral ulcers
Behcet’s disease
Vasculitis that spares the lungs
Pathology?
Polyarteritis nodosa
Fibrinoid necrosis
Typical location of venous stasis ulcers
Above the medial malleolus
Light brown macules on the skin
Pigmented nodules in his irises
At risk for developing what?
NF-1 (cafe-au-lait spots, Lisch nodules)
Neurofibromas (peripheral nerve tumors)
Meningiomas
Pheochromocytomas
Where are ALT and AST found?
ALT - LIVER ONLY
AST - liver, heart, kidney, RBCs
Isolated increase in AST + unremitting epigastric pain
Ischemic heart disease (atypical presentation)
What characteristic of H. pylori allows it to flourish and destruct the stomach lining?
Urease-positive – uses AMMONIUM production to mitigate the acid and also destroy the stomach lining cells
Small intestinal obstruction…exam sign?
Infectious cause?
Tinkly bowel sounds
Ascaris lumbricoides
Red discoloration of upper/mid face Seizures/epilepsy Intellectual disability Hemiparesis Early-onset glaucoma
Cause?
Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
GNAQ activating mutation –> port-wine stain (V1,V2), leptomeningeal angioma, episcleral hemangioma
Reye syndrome…problem in the liver?
What else will be seen in the liver?
Inhibition of mitochondrial enzymes by aspirin metabolites
Microvesicular steatosis (fatty change)
Heart failure
Endocardial fibrosis
Myocardial necrosis
Eosinophilia
Cause?
Loeffler endocarditis (syndrome)
Idiopathic eosinophilia –> cardiac damage by eosinophilic enzymes
Most common cause of cardiac-related sudden death
Ischemic heart disease (–> fatal arrhythmia)
Cancers with psammoma bodies
How to remember?
Papillary thyroid carcinoma
Serous papillary cystadenocarcinoma
Meningioma
Mesothelioma
“PSaMMoma”
