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109 Cards in this Set

  • Front
  • Back
cyanosis, clubbing and polycythemia are related to what syndrome?
Eisenmenger's syndrome
aorticopulmonary septum didn't spiral
transposition of great vessels
male:female in coarctation of aorta?
3:1
heart anomaly related to machine-like murmur? treatment?
PDA (from aorta down to pulmonary artery); maintained open by PGE synthesis and low O2
heart defect in 22q11?
truncus arteriosus or tetralogy of Fallot
heart defect in Down's?
ASD, VSD
heart defect in congenital rubella?
septal defects, PDA
heart defect in Turner's syndrome?
cOarctation of aOrta in XO
heart defect in kid of diabetic mom?
transposition of great vessels
testicular atrophy (hypogonadism), eunuchoid body shape, tall, long extremities, gynecomastia
Klinefelter's syndrome (XXY) [male]
short stature, ovarian dysgenesis (streak ovary), webbing of neck, primary amenorrhea
Turner's syndrome (XO) [female]
ovaries present, but external genitalia are ambiguous or virilized
female pseudo-hermaphrodite (XX)

due to excessive and inappropriate exposure to androgenic steroids during early gestation
testes present, but external genitalia are female or ambiguous
male pseudo-hermaphrodite (XY)

due to androgen insensitivity syndrome (testicular feminization)
both ovary and testicular tissue present
true hermaphrodite (46,XX or 47,XXY)
defect in androgen receptor resulting in normal-appearing female; female external genitalia with rudimentary vagina
androgen insensitivity syndrome (46,XY)

uterus and uterine tubes generally absent; develops testes found in labia majora

levels of testosterone, estrogen and LH are all high
ambiguous genitalia until puberty, when + testosterone causes masculinization of genitalia
5 alpha-reductase deficiency

testosterone/estrogen levels normal; LH is normal to high
microcephaly, severe mental retardation, high-pitched crying/mewing
Cri-du-chat syndrome

congenital deletion of short arm of chromosome 5 (46,XX or XY, 5p-)
2nd most common cause of genetic mental retardation; associated with macro-orchidism (large testes), long face with large jaw, large everted ears, autism
fragile X syndrome

fragile X = Xtra large testes, jaw, ears

X-linked defect affecting methylation and expression of FMRI gene; triplet repeat disorder (CGG) may show genetic anticipation
Cleft palate
Abnormal facies
Thymic aplasia
Cardiac defects
Hypocalcemia
22q11 syndrome due to microdeletion at chromosome 22q11

thymic aplasia -> T-cell deficiency
parathyroid aplasia -> hypocalcemia

can present as DiGeorge's syndrome or velocardiofacial syndrome
bilateral massive enlargement of kidneys; present with pain, hematuria, hypertension, progressive renal failure
adult polycystic kidney disease

90% due to mutation in APKD1 gene of chromosome 16

associated with polycystic liver disease, berry aneurysms, mitral valve prolapse

AD
hugely elevated cholesterol (700 mg/dL +), severe atherosclerotic disease early in life, tendon xanthomas (achilles tendon)
homozygote for familial hypercholesterolemia (hyperlipidemia type IIA)

MI can develop before age 20; heterozygous form of disease is less severe

AD
fibrillin gene mutation, connective tissue disorder, subluxation of lenses
Marfan's syndrome

AD
cafe-au-lait spots, neural tumors, pigmented iris hamartomas, scoliosis. disease and genetic abnormality.
neurofibromatosis type 1 (von Recklinghausen's disease)

iris hamartoma -> Lisch nodules

long arm of chromosome 17 (17 letters in von Recklinghausen)

AD
bilateral acoustic neuroma, optic pathway glioma, juvenile cataracts. disease and genetic abnormality.
neurofibromatosis type 2

NF2 gene on chromosome 22

AD
facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, rhabdomyomas
tuberous sclerosis

AD
hemangioblastomas of retina/cerebellum/medulla. name disease, associated tumors and chromosomal abnormality.
von Hippel-Lindau disease

50% develop multiple bilateral renal cell carcinomas and other tumors

associated with deletion of VHL gene (tumor suppressor) on chromosome 3p

AD
depression, progressive dementia, choreiform movements, caudate atrophy...found in ages 20-50 yrs. disease and NT findings and genetic disorder.
Huntington's disease; decreased GABA and ACh in the brain

triplet repeat disorder on chromosome 4

AD
colon is covered with adenomatous polyps after puberty; can progress to cancer unless resected
familial adenomatous polyposis

deletion on chromosome 5

AD
sheroid erythrocytes, hemolytic anemia, increased MCHC, splenectomy curative
hereditary spherocytosis

AD
cell-signaling defect of fibroblast growth factor (FGF) receptor 3. name disease and presentation
achondroplasia

dwarfism, short limbs, normal head and trunk size

AD
calcification of arteries, especially radial or ulnar; usually benign
Monckeberg's arteriosclerosis
hyaline thickening of small arteries in essential HTN; when does "onion skinning" occur?
arteriolosclerosis; malignant HTN
fibrous plaques and atheromas form in intima of arteries; disease o felastic arteris and large and medium-sized muscular arteries
atherosclerosis
what are the top 4 locations for atherosclerosis?
abdominal aorta
coronary artery
popliteal artery
carotid artery
where do red infarcts occur? pale infarcts?
REd = REperfusion; happens in loose tissues with collateral circulation (eg. lungs, intestine)

pale = in solid tissue with single blood supply such as brain, heart, kidney and spleen
top 3 spots for coronary artery occlusion?
LAD
RCA
circumflex
what type of necrosis occurs in the heart?
coagulative necrosis
what is the order of peaks in the cardiac markers?
cTnI
CK-MB
AST
LDH1
what are the possible EKG changes in MI?
ST elevation (transmural)
ST depression (subendocardial)
Q waves (transmural)
what are the 7 possible complications of an MI?
1. cardiac arrhythmia (important cause of death before reaching hospital)
2. LV failure and pulmonary edema
3. cardiogenic shock
4. rupture of ventricular free wall, IV septum, papillary muscle, cardiac tamponade
5. thromboembolism - mural thrombus
6. fibrinous pericarditis - friction rub (3-5 days post-MI)
7. Dressler's syndrome - autoimmune disease leading to fibrinous pericarditis
doxorubicin toxicity and hemochromatosis causes what type of heart disease?
dilative cardiomyopathy
cocaine and alcohol cause what type of cardiomyopathy?
dilative cardiomyopathy
in what type of heart problem are the pulses considered "pulsus parvus et tardus"?
aortic stenosis
what are the 6 types of emboli?
FAT BAT

Fat
Air
Thrombus
Bacteria
Amniotic fluid
Tumor
what is the Virchow's triad leading to DVT?
stasis, hypercoagulable state, endothelial damage
cause of dyspnea on exertion
LV output doesn't increase with exercise
cause of cardiac dilation
greater EDV
cause of pulmonary edema, paroxysmal nocturnal dyspnea
LV failure -> increased pulm venous pressure -> pulm distention and transudation of fluid
what are "heart failure" cells?
hemosiderin-laden macrophages
cause of orthopnea? (SOB when supine)
blood pools in lungs, adding volume to congested pulm vascular system; increased venous return not put out by LV
cause of hepatomegaly in CHF (nutmeg liver)
increased central venous pressure -> increased resistance to portal flow

may lead to cardiac cirrhosis in rare circumstances
cause of ankle, sacral edema
RV failure -> increased venous pressure -> fluid transudation
what's bronchiectasis?
chronic necrotizing infection of bronchi

associated with bronchial obstruction, CF, Kartagener's syndrome
what disease causes increased elastase activity, enlargement of air spaces, and decreased recoil of alveoli?
emphysema
what are 4 causes of obstructive pulmonary disease?
Obstructive -> 'O' is like a loose, damaged alveolus

Asthma
Bronchiectasis
Chronic bronchitis
Emphysema
what are 8 causes of restrictive pulmonary disease (pulmonary causes)?
WEG'S PAIN (interstitial causes)

Wegener's granulomatosis
Eosinophilic granuloma
Goodpasture's syndrome
Sarcoidosis

Pneumoconioses
ARDS
Idiopathic pulmonary fibrosis
Neonatal hyaline membrane disease
what are 2 extrapulmonary causes of restrictive lung disease?
poor breathing mechanics:
- poor muscular effort due to polio or MG
- poor apparatus in scoliosis
in what pulmonary disease is there increased fremitus?
lobar pneumonia
hyperresonance occurs in what lung condition?
pneumothorax
asbestosis is a predisposing factor in what lung cancers?
mesothelioma and bronchogenic carcinoma
how can you help prevent neonatal respiratory distress syndrome?
give mom steroids before birth
pt presents with situs inversus and has bronchiectasis and recurrent sinusitis. disease?
Kartagener's syndrome
what disease presents with cough, hemoptysis, bronchial obstruction, and pneumonic "coin" lesions on x-ray?
lung cancer
what are the two centrally located lung cancers that are linked to smoking?
squamous cell carcinoma (PTH-related peptide; P is near Q in the alphabet)

small cell carcinoma
what neoplasm causes flushing, diarrhea, wheezing and salivation?
carcinoid tumor
what are peripheral lung cancers?
1. adenocarcinoma (most common)
2. bronchioalveolar carcinoma
3. large cell carcinoma (undifferentiated)
what are complications due to lung cancer?
SPHERE of complication

Superior vena cava syndrome
Pancoast's tumor
Horner's syndrome
Endocrine (para neoplastic)
Recurrent laryngeal symptoms (hoarseness)
Effusions (pleural or pericardial)
which lung cancer affects the apex of the lung and leads to Horner's syndrome?
Pancoast's tumor
what heart condition causes equilibration of pressure in all 4 chambers and beat to beat alterations in the QRS complex?
cardiac tamponade
what is the First Aid mnemonic for conditions associated with bacterial endocarditis?
FROM JANE

Fever
Roth's spots (round white spots on retina surrounded by hemorrhage)
Osler's nodes (tender raised lesions on finger or toe pads)
Murmur
Janeway lesions (small erythematous lesion on palm or sole)
Anemia
Nail-bed hemorrhage
Emboli
mitral valve stenosis with vegetations on both sides of valve
Libman-Sacks endocarditis in SLE
what disease can disrupt the vasa vasorum of the aorta, dilate the aorta and valve ring, tree bark appearance, and result in aneurysm of ascending aorta or the arch?
tertiary syphilis
patient presents with +ESR, fever, arthritis, night sweats, myalgia, skin nodules, ocular disturbances, and weak pulses in upper extremities. disease?
Takayasu's arteritis

affects young Asian females
pt presents with +ESR, unilateral headache and jaw claudication, impaired vision and systemic pain. disease?
temporal arteritis (giant cell arteritis)
which ANCA positive vasculitis is limited to the kidney?
primary pauci immune crescentic glomerulonephritis
disease involves necrotizing vasculitis of renal and visceral vessels. not associated with ANCA, but 30% of pts are HBsAb positive. disease?
polyarteritis nodosa
microscopic polyangitis
similar presentation to Wegener's, but lacks the granulomas
what are the 4 bugs that commonly cause bronchopneumonia?
SHaKeS

S. aureus
H. flu
Klebsiella
S. pyogenes

acute infammatory infiltrates from bronchioles into adjacent alveoli
what are the causes of interstitial (atypical) pneumonia?
viruses (RSV, adenoviruses), Mycoplasma, Legionella, Chlamydia
what is the histological finding in thalassemia?
target cells (formed by increased area-to-volume ratio in RBCs)
what is haptoglobin?
a protein that complexes with hemoglobin to be removed by the liver
what does low haptoglobin + increased serum LDH mean?
RBC hemolysis
what is the purpose of a direct Coombs' test?
distinguish between immune- and non-immune-mediated RBC hemolysis
what are 4 causes of microcytic, normochromic anemias?
iron deficiency
thalassemia
lead poisoning
sideroblastic anemia
what are 4 causes of macrocytic anemias?
vitamin B12 deficiency
folate deficiency
drugs that block DNA synthesis (sulfa drugs, AZT)
reticulocytosis
what are 7 causes of normocytic, normochromic anemia?
Acute hemorrhage
Enzyme defects (G6PD, PK)
RBC embrane defects (spherocytosis)
Bone marrow disorder (aplastic anemia, leukemia)
Sickle cell disease
Autoimmune hemolytic anemia
Anemia of chronic disease

learn 4 micro- and 4 macro-cytic anemias...the rest are normo!
which anemia leads to hypersegmented PMNs?
folate and B12 deficiencies
patient presents with pancytopenia with normal cell morphology. bone marrow is hypocellular with fatty infiltration. severe anemia, neutropenia and thrombocytopenia. disease?
aplastic anemia
what's wrong in aplastic anemia? how do you treat it?
failure or destruction of multipotent myeloid stem cells with inadequate production of differentiated cell lines

allogenic bone marrow transplant, RBC and platelet transfusion, G-CSF or GM-CSF (colony stimulating factors)
what are some causes of aplastic anemia?
toxins: radiation, benzene, chloramphenicol, alkylating agents, antimetabolites

viruses: parvovirus B19, EBV, HIV

Fanconi's anemia, idiopathic, post hepatitis
is hereditary spherocytosis positive or negative in direct Coombs'?
negative
what is hereditary spherocytosis?
intrinsic, extravascular hemolysis due to spectrin or ankyrin defect

+MCHC, +RDW, +reticulocytes; both small and large RBCs!
what does a "crew-cut" on skull x-rays indicate?
marrow expansion seen in sickle cell and thalassemias
what is the risk for a sickle cell patient with parvovirus B19?
aplastic crisis
pts with sickle cell trait are resistant to what infection?
malaria
sickle cell patients are at risk for what infections?
Salmonella osteomyelitis and infection from encapsulated bugs
how many alpha globin genes are there? how does the blood compensate for alpha thalassemias?
4

it can't; a knock-out of all 4 leads to hydrops fetalis and intrauterine fetal death(Hb Barts)
what is the genetic defect in sickle cell disease?
sustitiution of glutamatic acid for valine at the 6th position
how does the blood compensate in beta thalassemias?
increased production of fetal hemoglobin, but is inadequate
what are some secondary complications in beta thalassemia major?
the severe anemia requires blood transfusions; cardiac failure secondary to hemochromatosis

marrow expansion -> skeletal deformities
in what regions do you find alpha thalassemias? beta thalassemias?
alpha: Africa and Asia

beta: Mediterranean
what is a consequence of pulmonary hypertension?
cor pulmonale and subsequent right ventricular failure
what causes a right shift in the oxygen-hemoglobin dissociation curve?
CADET face right!

CO2
Acid/Altitude
DPG (2,3 DPG)
Exercise (metabolism)
Temperature
how do you calculate the volume of physiological lung dead space (ventilated but not perfused)?
Vd = Vt * (paCO2 - peCO2)/paCO2

paCO2 = arterial pCO2
peCO2 = expired air pCO2
what's the V/Q in the lung apex? during exercise? what's the normal V/Q in the lung base?
apex: 3
during exercise: 1
base: 0.6
where are ventilation and perfusion greater overall, in the base or the apex?
in the base
how is CO2 carried in the blood?
bicarbonate: 90%
bound to hemoglobin: 5%
dissolved: 5%
what ion exchanger is at work in the RBC?
HCO3- out and Cl- in
what are 4 notable changes in response to high altitude?
increased EPO production (increased hematocrit and hemoglobin)
cellular changes (more mitochondria)
increased renal excretion of bicarb in response to respiratory alkalosis
chronic hypoxic pulmonary vasoconstriction leads to RVH