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223 Cards in this Set
- Front
- Back
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Name an X-linked recessive muscular disease that leads to accelerated muscle breakdown.
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Duchenne's Muscular Dystrophy
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What is associated w/ 22q11 syndromes?
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Truncus arteriosus, Tetralogy of Fallot
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What are 4 diseases that are Trinucleotide Repeat Expansion disease?
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Huntington's disease, Friedreich's ataxia, Myotonic dystrophy, Fragile X syndrome
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What are the testosterone, estrogen, and LH levels in 5-alpha-reductase deficiency?
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Testosterone/estrogen levels are normal, LH is normal/high
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Incidence and characteristics and Turner's syndrome:
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1:3000 births; short stature, ovarian dysgenesis(streak ovary), webbed neck, coarction of the aorta, No Barr body
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Explain the pathogenesis of a patent ductus arteriosus:
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In fetal period, shunt is R to L (normal). In neonatal period, lung resistance dec. and shunt becomes L to R with subsequent RV hypertrophy and failure.
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What is the most common chromosomal disorder and cause of congenital mental retardation?
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Down's syndrome (trisomy 21)
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Pyloric stenosis is associated with______.
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Projectile vomiting
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Which gene is affected in Fragile X?
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Methylation and expression of the FMR 1 gene is affected in this X-linked disorder
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Characteristic murmur with a patent ductus arteriosus.
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Continuous, 'machine-like'
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Explain the adult type of coarctation of the aorta and give some associated symptoms.
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Aortic stenosis distal to ductus arteriosus (postductal)aDult is Distal to Ductus; assoc. w/ notching of the ribs, HTN in upper extremities, weak pulses in lower extermities (check femoral pulse/lag)
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The gene responsible for Huntington's disease is located on chromosome__.
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4 (Hunting 4 food); triplet repeat disorder, genetic anticipation
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How is Muscular Dystrophy diagnosed?
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Muscle biopsy, inc. serum CPK
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The incidence of neural tube defects is decreased by maternal ingestion of what?
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folate; spina bifida is assoc. w/ low folic acid intake during pregnancy
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Down's syndrome is associated with increased or decreased levels of AFP?
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Decreased AFP
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X-linked recessive disorders (10)
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1.Fragile X 2.Duchenne's MD 3.Hemophilia A and B 4.Fabry's 5.G6PD deficiency 6.Hunter's syndrome 7.ocular albimism 8.Lesch-Nyhan syndrome 9.Bruton's agammaglobulinemia 10.Wiscott-Aldrich syndrome
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Highest risk of development of fetal alcohol syndrome at __ to ___ weeks.
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3 to 8
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A patent ductus arteriosus is maintained by what 2 things?
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PGE synthesis and low O2 tension
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What is Gower's maneuver?
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Requiring assistance of the upper extermities to stand up (indicates proximal lower limb weakness)
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Incidence and characteristics of Patau's syndrome:
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1 in 6000 births, severe mental retardation, microphthalmia, cyclopsia (one eye), microcephaly, cleft lip/palate, abnormal forebrain structures, polydactly, congenital heart disease
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What is the most common lethal genetic disease of Caucasians?
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Cystic Fibrosis
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What defect does somebody w/ 5-alpha-reductase deficiency have?
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Unable to convert testosterone to Dihydrotestosterone (DHT)
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Elevated ___ in amniotic fluid/maternal serum is evidence of a neural tube defect.
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AFP (alpha fetal protein)
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Characteristics of Adult polycystic kidney disease:
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ALWAYS bilateral massive enlargement of kidneys due to multiple large cysts; patients present with pain, hematuria, HTN, and progressive renal failure
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Frequency of L-toR shunts:
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VSD>ASD>PDA
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Does coarctation of the aorta affect males or females most commonly?
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3:1 males to females
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Explain the infantile type of coarctation of the aorta.
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Aortic stenosis proximal to insertion of ductus arteriosus (preductal)'INantile, IN close to the heart.
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Characteristics of Hereditary Sperocytosis:
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Spheroid erythrocytes, hemolytic anemia, increased MCHC (mean cell hemoglobin concentration), splenectomy is curative
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What is Achondroplasia?
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Autosomal dominant cell-signaling defect of fibroblast growth factor(FGF) receptor 3.
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Characteristics of Fragile X syndrome:
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Macro-orchidism (enlarged testes), long face with a large jaw, large everted ears, and autism (Brandon North)
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Tetralogy of Fallot leads to early cyanosis from a R-to-L shunt across the ____.
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VSD
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Compare the cholesterol levels of heterozygores and homozygotes with familial hyperchlosterolemia:
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Heterozygotes (1:500) cholest. levels around 300mg/dL; Homozygotes (very rare) cholest. levels over 700 mg/dL.
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What is the treatment for cystic fibrosis?
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N-acetylcysteine to loosen mucus plugs
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Marfan's syndrome is due a mutation in which gene?
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Fibrillin (connective tissue disorders)
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Most common form of Male Pseudohermaphroditism is ____.
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Testicular feminization; Androgen Insensitivity Syndrome= results from a mutation in the androgen receptor gene (X linked recessive), blind-end vagina, uterus/tubes absent, testes found in labia majora and removed to prevent malignancy
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What is associated w/ Offspring of diabetic mother?
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Transposition of Great Vessels
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Characteristics of Male Pseudohermaphroditism:
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Testes present, but external genitalia are female or ambiguous.
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What gender genetic disorder has been observed with inc. frequency among inmates of penal institutions?
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Double Y males (XYY)
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What is the underlying cause of Familial hypercholesterolemia?
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Defective or absent LDL receptor leading to elevated LDL
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What causes Transposition of the Great Vessels?
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Failure of the aorticopulmonary septum to spiral
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Describe Eisenmenger's syndrome:
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Uncorrected VSD, ASD, or PDA leads to progressive pulm. HTN. As pulm. resistance increases, the shunt changes from L to R to R to L, which causes late cyanosis (clubbing and polycythemia).
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What are the signs of 5-alpha-reductase deficiency?
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Ambiguous genitalia until puberty when testosterone increases causing masculinization of gentalia
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Where is the deletion of Familial Adenomatous Polyposis (FAP)?
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chromosome 5; Autosomal dominant
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Name 3 examples of L-to-R shunts. (late cyanosis) 'blue kids'
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1.VSD (ventricular septal defect) 2.ASD (atrial septal defect 3.PDA (patent ductus arteriosus)
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Name 7 common congenital malformations
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1.Heart defects 2.Hypospadias 3.Cleft lip w/ or w/out cleft palate 4.Congenital hip dislocation 5.Spina Bifida 6.Anencephaly 7.Pyloric stenosis
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What is the cause of Duchenne's MD?
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Deletion of dystrophin
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What is the most common cause of early cyanosis 'blue babies'?
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Tetralogy of Fallot
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What are some other diagnostic features of Down syndrome?
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Inc. Beta-hCG, inc. nuchal translucency
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Describe a true hermaphrodite:
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46 XX or 47 XXY; both ovary and testicular tissue present; ambiguous genitalia; very rare
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Explain the transposition of the great vessels.
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Aorta leaves RV (anterior) and pulmonary trunk leaves LV (posterior) this leads to separation of systemic and pulmonary circulations.
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Define Meningomyelocele:
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Meninges and spinal cord herniate through spinal canal defect, picture on p.223
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The defect in Neurofibromatosis Type-II is found on which chromosome?
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Chromosome 22; type 2=22
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95% of Down's syndrome cases are due to what?
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Meiotic nondisjunction of homologous chromosomes(4% due to Robertsonian translocation and 1% due to Down mosaicism)
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List some Autosomal Recessive diseases.
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Cystic Fibrosis, Albinism, Alpha-antitrypsin deficiency, PKU, Thalassemais, Sickle cell anemia, Glycogen storage diseases, Mucopolysaccharidoses (except Hunter's), Sphingolipidoses (except Fabry's), Infant polycystic disease, hemochromatosis
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What are the finding of Neurofibromatosis Type-II
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Bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts
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What are some cardiovascular abnormalities associated with Marfan's
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Cystic medial necrosis of aorta= aortic incompetence and dissecting aortic aneurysms, Floppy mitral valve
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Name 11 autosomal-dominant diseases:
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1.Adult polycystic kidney disease 2.Familial hyperchloresterolemia (type IIA) 3.Marfan's syndrome 4.Neurofibromatosis Type-I(Von Recklinghausen's disease) 5.Neurofibromatosis Type-II 6.Tuberous Sclerosis 7.Von Hippel-Lindau disease 8.Huntington's disease 9.Familial Adenomatous Polyposis 10.Hereditary Sperocytosis 11.Achondroplasia
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Huntington's disease manifests between the ages of:
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20 and 50
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The defect in Neurofibromatosis Type-I (Von Recklinghausen's disease) is found on which chromosome?
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17 (hint: 17 letters in Recklinghausen's)
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What is associated w/ Down syndrome?
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ASD, VSD
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Becker's muscular dystrophy is due to____.
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Dystrophin gene mutations that is less severe (not deletions)
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Von Hippel-Lindau disease is associated with the deletion of what gene?
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VHL gene (tumor suppressor) on chromosome 3 (3p)
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Babies with Fetal Alcohol Syndrome are at higher risk for developing what other problems?
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pre and postnatal developmental retardation, microcephaly facial abnormalities, limb dislocation, heart and lung fistulas
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Von Hippel-Lindau disease characteristics:
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Hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors
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Incidence and characteristics of Klinefelter's syndrome:
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1:850 births; testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution
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What is used to close a patent ductus arteriosus?
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Indomethacin
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Mechanism of Fetal Alcohol Syndrome may be:
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Inhibition of cell migration
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90% of adult polycystic kidney disease cases are due to mutation in _____.
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APKD1 (on chromosome 16)
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What is a good way to remember Fragile X sydrome?
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Fragile eXtra large: testes, jaw, ears
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What is the 2nd most common cause of genetic mental retardation?
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Fragile X syndrome
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How is CF diagnosed?
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Increased concentration of Cl- ions in sweat test
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What are some findings of Down's syndrome?
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Mental retardation, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, congenital heart disease (most common malformation is septum primum-type ASD endocardial cushion defect), Alzheimer's disease in individuals over 35, increased risk of ALL
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Characteristics of Female Pseudohermaphroditism:
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Ovaries present but external genitalia are virilized or ambiguous
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Cri-du-chat syndrome results from a congenital deletion on which chromosome?
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Short arm of chromosome 5; 46 XX or XY, 5p-
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What does a heart with Tetralogy of Fallot look like on x-ray?
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Boot-shaped due to RVH
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What are some skeletal abnormalities associated with Marfan's
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Tall long extremities, Hyperextensive joints, long tapering fingers and toes (arachnodactyly)
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Characteristics of Duchenne's MD:
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Onset before age 5, weakness begins in the pelvic girdle muscles and progresses superiorly (use of Gower's maneuver), pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle, cardiac myopathy
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Incidence and characteristics of double Y males:
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1:1000 births; phenotypically normal, very tall, severe acne, antisocial behavior (seen in 1-2%)
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What is associated w/ Congenital Rubella?
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Septal defects, PDA
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Transposition of great vessels is not compatible with life unless what is present?
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Shunt that allows adequate mixing of blood (VSD, PDA, or patent foramen ovale)
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Why are female carriers of X-linked recessive disorders rarely affected?
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Random inactivation of X chromosomes in each cell
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Causes of Female Pseudohermaphroditism:
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Excessive and inappropriate exposure to androgenic steroids during early gestation (i.e., congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy)
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When does death usually occur for Trisomy 13?
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Death usually occurs within 1 year of birth.
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What do you find with 22q11 Syndromes (microdeletion at 22q11)?
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CATCH 22: Cleft palate, Abnormal facies, Thymic aplasia (DiGeorge-T cell def., parathyroid def), Cardiac defects (Truncas arteriosus/Tet. of Fallot), Hypocalcemia (parathyroid aplasia)
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When does death usually occur for Trisomy 18?
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Death usually occurs within 1 year of birth.
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Incidence and characteristics of Edward's syndrome:
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1 in 8000 births, severe mental retardation, rocker bottom feet, low-set ears, micrognathia (small jaw), congenital heart disease, clenched hands (flexion of fingers), prominent occiput
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What are the genetics associated with Tuberous Sclerosis?
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Autosomal dominant, imcomplete penetrance, variable expression
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What levels of testosterone, estrogen, and LH are found in a Male Pseudohermaphrodite with Androgen Insensitivity Syndrome?
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Levels of testosterone, estrogen, and LH are all High
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What is the underlying cause of Cystic Fibrosis?
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Autosomal recessive defect in CFTR gene on chromosome 7; defective Cl- channel= secretion of thick mucus that plugs lungs, pancreas, liver
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How does CF present in infancy?
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Failure to thrive, meconium ileus
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What is different about the juvenile form of polycystic kidney disease?
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Autosomal Recessive
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Findings with Huntington's disease:
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Depression, progressive dementia, choreiform movements, caudate atrophy, dec. levels of GABA and Ach in the brain
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What is associated w/ Turner's syndrome?
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Coarctation of aorta
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What is associated w/ Trinucleotide Repeat Expansion diseases?
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Anticipation (inc severity and dec age of onset)
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Patau's syndrome = trisomy ___
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13 (hint: Puberty - 13)
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What is the Ocular abnormality seen with Marfan's
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Subluxation of lens
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What is used to keep a patent ductus arterious open?
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PGE (may be necessary to sustain life in conditions such as transposition of the great vessels)
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What is the incidence of Down's syndrome?
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1 in 700 births
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_____are associated with low folic acid intake during pregnancy.
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Neural tube defects
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Define Pseudohermaphroditism:
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Disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.
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Adult polycystic kidney disease is associated with what other diseases or disorders?
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polycystic liver disease, BERRY ANEURYSMS, mitral valve prolapse
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Name the 4 components of Tetralogy of Fallot.
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PROVe: 1.Pulmonary Stenosis 2.RVH (right ventricular hypertrophy) 3.Overriding aorta (overrides the VSD) 4.VSD (ventricular septal defect)
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Familial Adenomatous Polyposis features:
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Colon becomes covered with adenomatous polyps after puberty; 100% will get colon cancer without resection
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Define Meningocele:
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Meninges herniate through spinal canal defect, picture on p. 223
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Turner's syndrome is the most common cause of what?
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Primary amenorrhea
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Name 3 examples of R-to-L shunts. (early cyanosis) 'blue babies'
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The 3 T's: 1.Tetralogy of Fallot 2.Transposition of great vessels 3.Truncus arteriosus
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Define Spina bifida occulta:
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Failure of bony spinal canal to close, but no structural herniation.(usually seen at lower vertebral levels), picture on p.223
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What are phenotypic characteristics of Achondroplasia?
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Dwarfism, short limbs, Head and trunk are normal size
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What are the findings of Tuberous Sclerosis?
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Facial lesions, hypopigmented 'ash leaf spots' on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas
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Congenital heart defects are often due to which infection?
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Rubella
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XO =
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Turner's syndrome
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Explain Truncus Arteriosus.
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The aorticopulmonary/midline septum fails to form creating only one valve for both the pulmonary/aorta arteries; VSD is also present causing the mixing of blood before entering the single valve
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Newborns of mothers who consumed significant amounts of alcohol (teratogen) during pregnancy are at risk for _______.
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Fetal alcohol syndrome (the number one cause of congenital malformations in the U.S.)
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Genetic anticipation of Fragile X syndrome may be shown by what?
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Triplet repeat (CGG) that may show genetic anticipation
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XXY =
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Klinefelters syndrome (presence of inactivated X chromosome-Barr body); common causes of hypogonadism in males seen in infertility workup
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Findings of Cri-du-chat syndrome:
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Microcephaly, severe mental retardation, high pitched crying/mewing -(Cri-du-chat is French for cry of the cat), epicanthal folds, cardiac abnormalities
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Patients with Tetralogy of Fallot often suffer _________.
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Cyanotic spells
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What is the most common congenital cardiac anomaly?
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VSD
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Complications associated with Homozygous familial hypercholesterolemia:
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Severe atherosclerotic disease early in life, tendon xanthomas (classically in the fat Achilles tendon), Myocardial Infarction before age 20
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What are the signs of ASD?
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Loud S1; wide fixed split S2
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What is the cause of Tetralogy of Fallot?
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Anterosuperior displacement of the infundibular septum
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Children may do this to increase venous return with R-to-L shunt.
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Squat
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Findings in NFT-I Von Recklinghausen's disease:
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CafÈ-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders (scoliosis), and increased tumor susceptibility
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Trisomy 18 is also known as______.
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Edward's syndrome (hint: Election age = 18)
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Besides recurrent pulmonary infections, what are some other consequences of CF?
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Infertility in males, fat-soluable vitamin deficiencies A,D,E,K (pancreatic insufficiency), chronic bronchitis, bronchiectasia
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Which genetic gender disorder has an inactivated X chromosome (Barr body)?
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Klinefelter's syndrome
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T/F: Trisomy 21 is associated with advanced maternal age.
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True (from 1 in 1500 births in women<20 to 1 in 25 births in women>45)
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Gender identity is based on what two things?
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1.External genitalia 2.Sex of upbringing
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cardiac abnormality in Down
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ASD(ostium primum ASD+regurgitant AV valves) & VSD
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cardiac abn. in DiGeorge
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tetralogy of Fallot and aortic arch anomalies
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cardiac abn. in Friedreich's ataxia
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hypertrophic cardiomyopathy
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cardiac abn. in Tuberous sclerosis:
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valvular ostruction due to cardiac rhabomyomas
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Apolipoproteinemia
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AR, 1yo w/ malabsorption, neurogic df. retinitis pigmentosa due to df in CM absorption
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pathogenesis of albinism
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df. in tyrosinase (not absence of melanocytes)
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In what condition(s) do you find Acanthocyte?
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Spiny appearance in abetalipoproteinemia
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In what condition(s) do you find Burr cells?
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TTP/HUS
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In what condition(s) do you find Elliptocytes?
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Hereditary Elliptocytosis
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In what condition(s) do you find Helmet cells (Schistocytes)?
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DIC; traumatic hemolysis
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In what condition(s) do you find Macro-ovalocytes?
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Megaloblastic anemia (also hypersegmented PMNs); marrow failure
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In what condition(s) do you find Poikilocytes?
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Nonuniform shapes in TTP/HUS, microvascular damage; DIC
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In what condition(s) do you find Sickle cells?
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Sickle cell anemia
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In what condition(s) do you find Spherocytes?
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Hereditary spherocytosis; Autoimmune hemolysis
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In what condition(s) do you find Target cells?
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HbC disease; Asplenia; Liver disease; Thalassemia
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In what condition(s) do you find Teardrop cells?
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Myeloid metaplasia w/ myelofibrosis
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In what disease do you find Aschoff Bodies?
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Rheumatic Heart disease (Think of two RHussians w/ RHeumatic heart disease- Aschoff/Anitschkow)
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Is a Biconcave RBC form normal or abnormal?
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Normal
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Name 4 different types of Urine Casts?
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1.RBC casts 2.WBC casts 3.Hyaline casts 4.Waxy casts
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Name 7 HLA subtypes
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1.B27 2.B8 3.DR2 4.DR3 5.DR4 6.DR5 7.DR7
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necrotizing fasciitis
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crepitus. CA: group A streptococcus, clostridium perfringens, bacteroides fragilis
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T/F: Hyaline cassts are often seen in normal urine?
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TRUE
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What 2 disease are diagnosed/monitored by ESR?
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Temporal arteritis; Polymyalgia rheumatica
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What are 11 RBC forms?
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1.Biconcave 2.Spherocytes 3.Elliptocyte 4.Macro-ovalocyte 5.Helmit cell (schistocyte) 6.Sickle cell 7.Teardrop cell 8.Acanthocyte 9.Target cell 10.Poikilocytes 11.Burr cell
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What are 4 conditions when you find Psammoma bodies?
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1.Thyroid papillary adenocarcinoma 2.Serous papillary cystadenocarcinoma of ovary 3.Meningioma 4.Malignant mesothelioma
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What are 4 signs of Hyperlipidemia?
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1.Atheromata 2.Xanthoma 3.Tendinous xanthoma 4.Corneal arcus
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What are Auer Rods?
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Peroxidase-positive cytoplasmic inclusions in granulocytes/myeloblasts
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What are Psammoma bodies?
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Laminated, concentric, calcific spherules
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What are Reed-Sternberg cells?
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Distinctive tumor giant cell (binucleate or bilobed w/ 2 mirror halves 'owl eyes')
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What are the 5 types of Amyloidosis?
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1.AL 2.AA 3.ATTR 4.A-beta 5.beta-2 microglobulin
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What can happen with treatment for AML M3?
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Release of Auer rods-> DIC
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What causes RBC casts?
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Glomerular inflammation (nephritic syndrome); ischemia; malignant HTN
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What causes WBC casts?
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Inflammation of renal interstitium, tubules, and glomeruli
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What cell type does Cytokeratin stain?
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Epithelial cells
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What cell type does Desmin stain?
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Muscle
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What cell type does Glial Fibrillary Acid Proteins (GFAP) stain?
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Neuroglia
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What cell type does Neurofilaments stain?
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Neurons
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What cell type does Vimentin stain?
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Connective Tissue
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What diorders is CPK (creatinine phosphokinase) useful in diagnosing?
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Muscle disorders (Duchenne's muscular dystrophy); Myocardial Infarction (CPK-MB)
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What disease can cause Argyll Robertson pupil?
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Tertiary Syphilis
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What disease has Reed-Sternberg cells?
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Hodgkin's disease
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What disease manifests Auer Rods?
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Acute Promyelocytic leukemia (M3)= AML
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What disorder is a decrease in Ceruloplasmin useful in diagnosing?
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Wilson's disease
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What disorder is LDH-1 (lactate dehydrogenase fraction 1)?
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Myocardial Infarction (LDH-1 > LDH-2)
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What disorder is Lipase useful in diagnosing?
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Acute pancreatitis
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What disorders are associated w/ HLA B27?
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PAIR: Psoriasis; Ankylosing spondylitis; Inflammatory Bowel Disease; Reiter's syndrome
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What disorders are associated w/ HLA B8?
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Grave's disease; Celiac sprue
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What disorders are associated w/ HLA DR2?
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MS; Hay fever; SLE; Goodpasture's
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What disorders are associated w/ HLA DR3?
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Diabetes Mellitus Type I
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What disorders are associated w/ HLA DR4?
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Rheumatoid arthritis; Diabetes Mellitus Type I
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What disorders are associated w/ HLA DR5?
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Pernicious anemia (B12 deficiency); Hashimoto's thyroiditis
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What disorders are associated w/ HLA DR7?
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Steroid-responsive nephrotic syndrome
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What disorders cause the Erythrocyte Sedimentation Rate (ESR) to decrease?
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HbS anemia; CHF; polycythemia
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What disorders cause the Erythrocyte Sedimentation Rate (ESR) to increase dramatically?
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Infection; malignancy; connective tissue disease; pregnancy; inflammatory disease; anemia (except HbS= dec ESR)
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What disorders is Alkaline Phosphatase (AP) useful in diagnosing?
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Bone disease (Paget's); Obstructive liver disease (hepatocellular carcinoma)
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What disorders is Amylase useful in diagnosing?
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Acute pancreatitis; Mumps
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What disorders is GGT (gamma-glutamyl transpeptidase) useful in diagnosing?
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Various liver diseases
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What does Ghon complex reflect?
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Primary TB infection or exposure
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What does the presence of cast indicate about the origin of hematuria/pyuria?
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Renal origin; rather than hematuria coming from the bladder or lower urinary tract
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What is A-beta amyloidosis?
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Major component of Alzheimer's plaques
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What is a good way to remember Psammoma body?
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PSaMMoma: P=Papillary (thyroid); S=Serous (ovary); M=Meningioma; M=Mesothelioma
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What is a Tendinous xanthoma?
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Lipid deposit in tendon (esp. Achilles)
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What is a Xanthoma?
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Plaques or nodules of lipid-laden histiocytes in skin (esp. eyelids)
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What is AA amyloidosis, when do you see it, and what is a potential outcome?
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From serum amyloid-associated protein; acquired secondary to inflammatory disorder; familial variants exist
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What is AL amyloidosis, when do you see it, and what is a potential outcome?
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Amyloid light chain; seen in plasma cell dyscrasis (multiple myeloma, Waldenstroms); often fatal
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What is Amyloidosis?
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Deposits that show apple-green birefringence on Congo red stain
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What is an Aschoff Body?
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Aschoff body (granuloma w/ giant cells) and Anitshkow's cells (activated histiocytes)
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What is an Erythrocyte Sedimentation Rate (ESR)?
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Nonspecific test that measures acute-phase reactants
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What is Argyll Robertson pupil?
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Pupil constricts w/ accomodation but no constriction to light
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What is Atheromata?
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Plaques in blood vessel walls
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What is ATTR amyloidosis, how does a pt get it?
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From transthyretin (a serum transport portein); familial or acquired in elderly
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What is beta-2 microglobulin amyloidosis?
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Deposits in tendons/joints of dialysis pts.
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What is Corneal Arcus?
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Lipid deposit in the cornea; nonspecific (arcus senilis)
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What is Ghon complex?
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TB granulomas w/ lobar and perihilar lymph node involvement
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What is the AST/ALT comparison in Alcoholic Hepatitis?
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AST > ALT
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What is the AST/ALT comparison in Viral Hepatitis?
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ALT > AST
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What organs can systemic forms of Amyloidosis affect?
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Heart, kidney, other organs
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When do you see Waxy casts?
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Chronic renal failure
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With Acute cystitis, what can appear in the urine?
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WBCs
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With bladder cancer, what can appear in the urine?
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RBCs
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Define/Describe Alcoholism:
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Physiologic tolerance and dependence with syptoms of withdrawal when intake is interrupted; continued drinking despite medical/social contraindications and life disruptions.
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In alcoholics, what causes Wernicke-Korsakoff syndrome?
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Vitamin B1 (thiamine) deficiency
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Is Korsakoff's syndrome reversible?
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NO, it is irreversible
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Wernicke-Korsakoff syndrome is associated with periventricular hemorrage/necrosis in which part of brain?
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Mamillary bodies
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What are the accompanying symptoms of Alcoholic cirrhosis?
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Jaundice; Hypoalbuminemia; Coagulation factor deficiencies; Portal HTN; Peripheral edema and ascites; Encephalopathy; Neurologic manifestations (e.g., asterixis, flapping tremor of the hands)
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What are the bodily effects of ethanol? (3)
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Toxicity (especially in the brain); Fatty liver; Increased NADH/NAD
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What are the effects of increased NADH/NAD (from ethanol use)? (4)
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Increases lactate/pyruvate; Inhibits gluconeogenesis; Inhibits fatty acid oxidation; Inhibits glycerophosphate dehydrogenase leading to elevated glycerophosphate
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What are the long term consequences of alcohol use?
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Alcoholic hepatitis and cirrhosis; Pancreatitis; Dilated cardiomyopathy; Peripheral neuropathy; Cerebellar degeneration; Wernicke-Korsakoff syndrome; Testicular atrophy and hyperestrinism; Mallory-Weiss syndrome
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What are the symptoms of alcohol withdrawel?
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Tremor; tachycardia; HTN; malaise; nausea; delerium tremens
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What is Korsakoff's syndrome?
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Progression of Wernicke's encephalopathy to memory loss, confabulation, and confusion
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What is Mallory-Weiss syndrome?
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Longitudinal lacerations at the gastroesophageal junction caused by excessive vomitting with failure of Lower Esophageal Sphincter relaxation that could lead to fatal hematemesis.
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What is the treatment for Wernicke-Korsakoff syndrome?
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IV vitamin B1 (thiamine)
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What is the triad of symptoms for Wernicke's encephalopathy?
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1.Psychosis 2.Ophthalmoplegia 3.Ataxia
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What supportive group has been most successful in sustaining abstinence?
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Alcoholics Anonymous (sorryÖ it was in the book :)
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What treatment is used to condition the patient negatively against alcohol use?
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Disulfiram
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