100 Pathology Q/A Part 1
100 Q/As PATHOLOGY Part 1
1- Autosomal recessive diseases
3. alpha 1 antitrypsin deficiency
6. sicke cell anemia
7. glycogen storage diseases
8. mucopolysaccharidoses (except Hunter’s)
9. sphingolipidoses (except Fabry’s)
10.infant polycystic kidney disease
2- _____are associated with low golic acid intake during pregnancy.
Neural tube defects
3- 90% of adult polycystic kidney disease cases are due to mutation in _____.
APKD1 (on chromosome 16)
4 95% of Down’s syndrome cases are due to what?
meiotic nondisjunction of homologous chromosomes (4% due to Robertsonian translocation and 1% due to Down mosaicism)
5 A patent ductus arteriosus is maintained by what 2 things?
PGE synthesis and low oxygen tension
6 Abnormalities associated with Marfan’s syndrome:
1. Skeletal: tall with long extremities, hyperextensive joints, long tapering fingers and toes
2. Cardiovascular: cystic medial necrosis of the aorta, aortic incompetence, aortic dissection, aortic aneurysm, floppy mitral valve Ocular: subluxation of lenses
7 Adult polycystic kidney disease is associated with what other diseases or disorders?
polycystic liver disease BERRY ANEURYSMS mitral valve prolapse
8 Babies with Fetal Alcohol Syndrome are at higher risk for developing what other problems?
pre and postnatal developmental retardation microcephaly facial abnormalities limb dislocation heart and lung fistulas
9 Becker’s muscular dystrophy is due to____.
dystrophin gene mutations (not deletions) Becker’s is less severe.
10 Besides pulmonary infections, what are some other consequences of CF?
infertility in males fat-soluable vitamin deficiencies (A,D,E,K)
11 Causes of female pseudohermaphroditism:
excessive and inappropriate exposure to androgenic steroids during early gestation (i.e., congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy)
12 Characteristic murmur with a patent ductus arteriosus.
13 Characteristics of Adult polycystic kidney disease:
always bilateral massive enlargement of kidneys due to multiple large cysts patients present with pain, hematuria, HTN, and progressive renal failure
14 Characteristics of Duchenne’s MD:
onset before age 5 weakness begins in the pelvic girdle muscles and progresses superiorly pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle cardiac myopathy use of Gower’s maneuver
15 Characteristics of female pseudohermaphroditism:
ovaries present but external genitalia are virilized or ambiguous
16 Characteristics of Fragile X syndrome:
macro-orchidism (enlarged testes), long face with a large jaw, large everted ears, and autism
17 Characteristics of Hereditary Sperocytosis:
spheroid erythrocytes hemolytic anemia increased MCHC splenectomy is curative
18 Characteristics of male pseudohermaphroditism:
testes present, but external genitalia are female or ambiguous.
19 Children may do this to increase venous return with R-to-L shunt.
20 Compare the cholesterol levels of heterozygores and homozygotes with familial hyperchlosterolemia:
Heterozygotes (1 : 500) cholest. levels around 300mg/dL Homozygotes (very rare) cholest. levels over 700 mg/dL.
21 Complications associated with homozygous familial hypercholesterolemia:
severe atherosclerotic disease early in life tendon xanthomas (classically in the Achilles tendon) Myocardial Infarction before age 20
22 Congenital heart defects are often due to which infection?
23 Cri-du-chat syndrome results from a congenital deletion on which chromosome?
short arm of chromosome 5 46 XX or XY, 5p-
24 Define Meningocele:
meninges herniate through spinal canal defect picture on p. 229
25 Define Meningomyelocele:
meninges and spinal cord herniate through spinal canal defect picture on p.229
26 Define pseudohermaphroditism:
disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.
27 Define Spina bifida occulta:
failure of bony spinal canal to close, but no structural herniation. (usually seen at lower vertebral levels) picture on p. 299 (2002 edition)
28 Describe a true hermaphrodite:
46 XX or 47 XXY both ovary and testicular tissue present; ambiguous genitalia
29 Describe Eisenmenger’s syndrome:
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).
30 Does coarctation of the aorta affect males or females most commonly?
3:1 males to females
31 Down’s syndrome is associated with increased or decreased levels of AFP?
32 Elevated ___ in amniotic fluid is evidence of a neural tube defect.
AFP (alpha fetal protein)
33 Explain the adult type of coarctation of the aorta and give some associated symptoms.
aortic stenosis distal to ductus arteriosus (postductal) aDult is Distal to Ductus associated with notching of the ribs, hypertension in upper extremities, weak pulses in lower extermities (check femoral pulse)
34 Explain the infantile type of coarctation of the aorta. What is it commonly associated with?
aortic stenosis proximal to insertion of ductus arteriosus (preductal) ‘INantile, IN close to the heart.’ associated with Turner’s syndrome
35 Explain the pathogenesis of a patent ductus arteriosus:
In fetal period, shunt is R to L (normal). In neonatal period, lung resistance decreases and shunt becomes L to R with subsequent RV hypertrophy and failure (abnormal).
36 Explain the transposition of the great vessels.
Aorta leaves RV (anterior) and pulmonaryt trunk leaves LV (posterior) this leads to separation of systemic and pulmonary circulations.
37 Familial Adenomatous Polyposis features:
Colon becomes covered with adenomatous polyps after puberty ‘FAP’ F= five (deletion on chromosome 5) A= autosomal dominant inheritance P= positively will get colon cancer (100% without resection)
38 Findings in Von Recklinghausen’s disease:
cafÃ©-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders (scoliosis), and increased tumor susceptibility
39 Findings of Cri-du-chat syndrome:
microcephaly, severe MR, high pitched crying/mewing -(Cri-du-chat is French for cry of the cat), cardiac abnormalities
40 Findings with Huntington’s disease:
depression progressive dementia choreiform movements caudate atrophy dec. levels of GABA and Ach in the brain
41 Frequency of L-toR shunts:
42 Gender identity is based on what two things?
1. external genitalia 2. sex of upbringing
43 Genetic anticipation of Fragile X syndrome may be shown by what?
Triplet repeat (CGG)n
44 Highest risk of development of fetal alcohol syndrome at __ to ___ weeks.
3 to 8
45 How does CF present in infancy?
Failure to thrive
46 How is CF diagnosed?
increased concentration of Cl- ions in sweat test
47 How is MD diagnosed?
muscle biopsy increased serum CPK
48 Huntington’s disease manifests between the ages of :
20 and 50
49 Incidence and characteristics and Turner’s syndrome:
1 in 3000 births short stature, ovarian dysgenesis, webbed neck, coarction of the aorta
50 Incidence and characteristics of double Y males:
1 in 1000 births phenotypically normal, very tall, severe acne, antisocial behavior (seen in 1-2%)
51 Incidence and characteristics of Edward’s syndrome:
1 in 8000 births severe MR, rocker bottom feet, low-set ears, micrognathia, congenital heart disease, clenched hands (flexion of fingers), prominent occiput. Death usually occurs within 1 year of birth.
52 Incidence and characteristics of Klinefelter’s syndrome:
1 in 850 births testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution
53 Incidence and characteristics of Patau’s syndrome:
1 in 6000 births severe MR, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain structures, polydactly, congenital heart disease Death usually occurs within 1 year of birth.
54 Marfan’s is due a mutation in which gene?
55 Mechanism of Fetal Alcohol Syndrome may be :
inhibition of cell migration
56 Most common form of male pseudohermaphroditism is ____.
testicular feminization (androgen insensitivity) results from a mutation in the androgen receptor gene (X linked recessive); blind-end vagina
57 Name 3 examples of L-to-R shunts. (late cyanosis) ‘blue kids’
1. VSD (ventricular septal defect) 2. ASD (atrial septal defect 3. PDA (patent ductus arteriosus)
58 Name 3 examples of R-to-L shunts. (early cyanosis) ‘blue babies’
The 3 T’s’ 1. Tetralogy of Fallot 2. Transposition of great vessels 3. Truncus arteriosus
59 Name 7 common congenital malformations
1. heart defects 2. Hypospadias (when the urethral canal is open on the undersurface of the penis or on the perineum) 3. Cleft lip w/ or w/out cleft palate 4. congenital hip dislocation 5. Spina Bifida 6. Anencephaly 7. Pyloric stenosis
60 Name 8 autosomal-dominant diseases:
1. Adult polycystic kidney disease 2. Familial hyperchloresterolemia (type IIA) 3. Marfan’s syndrome 4. Von Recklinghausen’s disease (NFT1) 5. Von Hippel-Lindau disease 6. Huntington’s disease 7. Familial Adenomatous Polyposis 8. Hereditary Sperocytosis
61 Name an X-linked recessive muscular disease that leads to accelerated muscle breakdown.
Duchenne’s Muscular Dystrophy
62 Name the 4 components of Tetralogy of Fallot.
PROVe’ 1. Pulmonary Stenosis 2. RVH (right ventricular hypertrophy) 3. Overriding aorta (overrides the VSD) 4. VSD (ventricular septal defect)
63 Neural tube defects (spina bifida and anencephaly) are associated with increased levels of ___ in the amniotic fluid and maternal serum.
AFP (alpha fetal protein)
64 Newborns of mothers who consumed significant amounts of alcohol (teratogen) during pregnancy are at risk for _______.
fetal alcohol syndrome (the number one cause of congenital malformations in the U.S.)
65 Patau’s syndrome = trisomy ___
13 (hint: Puberty – 13)
66 Pathogenesis of Cystic Fibrosis:
defective Cl- channel –> secretion of abnormally thick mucus that plugs lungs, pancreas, and liver –> recurrent pulmonary infections (Pseudomonas species and Staph aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns.
67 Patients with Tetralogy of Fallot often suffer _________.
68 Pyloric stenosis is associated with______.
polyhydramnios; projectile vomiting
69 T/F: Trisomy 21 is associated with advanced maternal age.
True (from 1 in 1500 births in women<20 to 1 in 25 births in women>45)
70 Tetralogy of Fallot leads to early cyanosis from a R-to-L shunt across the ____.
71 The defect in Von Recklinghausen’s disease is found on which chromosome?
17 (hint: 17 letters in Recklinghausen’s)
72 The gene responsible for Huntington’s disease is located on chromosome__.
4 ; triplet repeat disorder
73 The incidence of neural tube defects is decreased by maternal ingestion of what?
74 Transposition of great vessels is a common congenital heart disease in offspring of _____ mothers.
75 Transposition of great vessels is not compatible with life unless what is present?
a shunt that allows adequate mixing of blood (VSD, PDA, or patent foramen ovale)
76 Trisomy 18 is also known as______.
Edward’s syndrome (hint: Election age = 18)
77 Turner’s syndrome is the most common cause of what?
78 Von Hippel-Lindau disease characteristics:
hemangioblastomas of retina/cerebellum/medulla about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors
79 Von Hippel-Lindau disease is associated with the deletion of what gene?
VHL gene (tumor suppressor) on chromosome 3 (3p)
80 What are some findings of Down’s syndrome?
mental retardation flat facial profile prominent epicanthal folds simian crease duodenal atresia congenital heart disease (most common malformation is endocardial cushion defect) Alzheimer’s disease in individuals over 35 increased risk of ALL
81 What does a heart with Tetralogy of Fallot look like on x-ray?
boot-shaped due to RVH
82 What gender genetic disorder has been observed with increases frequency among inmates of penal institutions?
Double Y males (XYY)
83 What is different about the juvenile form of polycystic kidney disease?
it is recessive
84 What is Gower’s maneuver?
requiring assistance of the upper extermities to stand up (indicates proximal lower limb weakness)
85 What is the cause of Duchenne’s MD?
a deleted dystrophin gene (hint: ‘D’ for deletion)
86 What is the cause of Tetralogy of Fallot?
anterosuperior displacement of the infundibular septum
87 What is the incidence of Down’s syndrome?
1 in 700 births
88 What is the most common cause of early cyanosis?
Tetralogy of Fallot
89 What is the most common chromosomal disorder and cause od congenital mental retardation?
Down’s syndrome (trisomy 21)
90 What is the most common congenital cardiac anomaly?
91 What is the most common lethal genetic disease of Caucasians?
92 What is the second most common cause of mental retardation?
Fragile X syndrome
93 What is the underlying cause of Cystic Fibrosis?
Autosomal – recessive defect in CFTR gene on chromosome 7
94 What is the underlying cause of Familial hypercholesterolemia?
defective or absent LDL receptor leading to elevated LDL
95 What is used to close a patent ductus arteriosus? What is used to keep it open?
Indomethacin PGE (may be necessary to sustain life in conditions such as transposition of the great vessels)
96 Which gene is affected in Fragile X?
methylation and expression of the FMR 1 gene is affected in this X-linked disorder
97 Which genetic gender disorder has an inactivated X chromosome (Barr body)?
[snip] Why are female carriers of X-linked recessive disorders rarely affected?
because of random inactivation of X chromosomes in each cell
99 X-linked recessive disorders (10)
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
100 XO =
Turner’s syndrome (think: ‘hugs and kisses’ -XO- from Tina Turner)
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