May 5th Flashcards
Homocystenuria
Intelectual disaility
Marfanoid-like
Lens sublaxation (dislocation)
LIM
Neurofibromatosis 2
Memingiomas and bilateral schwannomas
Autosomal dominant
LDL receptor deficiency
AD Xanthoma in achilles tendon Arcus lipoides (opaque rings on edge of iris)
Pallegra
Niacin deficiency (3 Beefy Ds) Dermatitis Diarrhea Dementia Beffy glossitis
Crigler NAjjar syndrome
UDP-glucoronyosyltransferase Deficiency
AR
Jaudince, elevated unconjugated, kericterus
MArfans
Chormosome 15, Aortic dilation -> regurge Mitral valve prolapse Fibrillin Dislocated lens
Introns sequence
Begin with 5’GU and end with AG3’
Cri-du-chat
Microcephaly
Vetnricular septal defect
Mewing cry
Chromosome 5 deletion
Wiskott Aldrich syndromeRecurrent infections
Thrombocytopenia (recurrent nose bleeds)
Purpura
Excimax
Edward’s syndrome
Malformed ears Ocular hypertelorism Syndactylyl Congential heart issues Trisomy 18
Gilberts syndrome
UDP glucorynyl transtrerase deficiecy
Random jaundice when fasting.
Secondary structure of proteins are held together by
Hydrogen bonds
Alkaptonuria
Homogentisic acid dioxygenase
AR
Tyrosine can’t be broken down. Hyperpigmentation AND urine turns black if allowed to sit.
Primary carnithine deficiency
Myopathy
Cardiomyopathy (S3 gllop)
Hypoketotic hypoglycemia
Can’t make Acetyl CoA from fatty acid
Transaminations are helped by
Pyridoxine (vitamin B6)
What degrades bilirubin into bilivedin
Heme oxygenase
Biliverdin reductase into unconjugated bilirubin
HPV can infect
True vocal cords. Respiratory epithelium is collumnar like cervix but doesnt have protective cilia
No upper vagina
Normal female except for mullerian aplasia.
Kidney aplasia common
Uterus can be abscent or hypertrophied. No menstruation either way.
Renal arteries come from aaorta at what level?
L1, seen in CT
IVC originates from
Union of right and left common illiac veins. L4-L5
Aldosterone escape.
In cases of hyeraldosteronism, renal blood flow increases causing sodium to be excreted. Hypokalemia and alkalosis happen but Na is normal.
Reticulocyte count after IM b12 administration
Peaks early.
Erythrocytes peak later.
Pyruvate dehydrogenase deficiency needs supplementation of what?
Lysine and leucine (ketogenic).
Can’t be metabolized to pyruvate so no lactic acidosis. Can promote TCA.
Anesthetic onset
Slow if atriovenous concentration is large. High tissue solubility have high AV gradient (bc not much gets back through venous). Slow onset, need more.
Myocplasma pneumoniae diagnosis
Cold agglutinins (cross reacting IgM increased). Hemolytic anemia (attack I antigen on blood cell) LDH, reticulcyte elevation and a positive Coombs test = sign of hemolyitic anemia.
Produce aversion to smoking and nicotine withdrawal
Varenicline
X linked agammaglobunemia (bruton)
Mutation of bruton tyrosine kinase.
No germinal center/B cells
Heteroplasmy
Different cells contain different amounts of affected mitochondria
Aspergillus fumigatus infection
45 degree angle branched hyphae.
Commonly attack old cavities as fungus ball. (Asthma or previous tuberculosis)
Immunocompromised
Paroxysmal breathlessness with no aspirin, infection, or exerise
Extrinsic allergic astma
Carchot-leyden cells (eosphiophilcrystaloid bodies)
IL5 mediated via Th2 cells
Larger than normal lung volume with breathing problems
Increased Residual volume (left over after expiration)
COPD Like emphysema/asthma.bronchiectasis.
Homeobox genes
Encodde transcription factors
Sucrose
Glucose and fructose
Watch out for in AR aldolase B deficiency
Adenoma to carcinoma sequence
Colon.
Normal to early adenoma (APC mutation, tumor sup)
EArly adenoma to late adenoma (Kras mutation, proto-onco)
late ademona to Malignant (P53 and DCC)
Methotrexate
Inhibits Dihydrofolate reductase (prevents formation of THF from DHF and folic acid)
DHF accumulation
Tetanus
Exotoxin prevents inhibitory neurotransmitters (glycine, GABA)
RAises circulating factor VIII
Desmopressin, also helps vWE secretion.
Prevent acyclovir toxicity
Aggressive hydration
lyme disease treatment
Doxycycline or penicillin-like (ceftriaxone)
Super high, acute hypertensino vs low, chronic hypertension
Acute/high: hyperplastic (onion thickening via smooth muscle)
Lower/chronic: acellular thickening (hYaline) in intema.
Can look like insuloma
Sulfonylurea medication
Cardiac tamponade
Hypotension with pulsus paradoxus (decrease in systolic/pulse on inspiration)
Eleavated JVD
Muffled heart sounds
Varices and veins
Esophageal varice: left gastric vein if lower 1/3. Azygous if upper 2/3ds
Hemmorrhoids: superio rectal vein
Capud medussa: paraumbilical
Fundic stomach: small gastric
