FA: Path & Physio
Terms
undefined, object
copy deck
- 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