VII - Genetic and Pediatric Diseases Flashcards Preview

whatever things > VII - Genetic and Pediatric Diseases > Flashcards

Flashcards in VII - Genetic and Pediatric Diseases Deck (184):
1

These disorders are derived from one's parents, transmitted through gametes through the generations, and are therefore familial.

Hereditary disorders(TOPNOTCH)

2

This term literally means "present at birth".

Congenital(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

3

This term refers to permanent changes in the DNA.

Mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

4

This type of mutation results from the substitution of a single nucleotide base by a different base, resulting in the replacement of one amino acid by another.

Missense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

5

This type of mutation results in the replacement of one amino acid by a stop codon, resulting in chain termination.

Nonsense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

6

Missense, nonsense and silent mutations are examples of ________ mutations, wherein only one base pair is replaced.

Point mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

7

This type of mutation occur when the insertion or deletion of one or two bse pairs alters the reading frame of the DNA strand.

Frameshift mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

8

These mutations are characterized by amplification of a sequence of three nucleotides.

Trinucleotide repeat mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

9

Disease characterized by CGG trinucleotide repeats.

Fragile X Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

10

This is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems.

Huntington's disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

11

Genetic mutation in Huntington's disease?

CAG trinucleotide repeats(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

12

This disorder is a chronic, slowly progressing inherited genetic disorder characterized by muscle wasting, cataracts, heart conduction defects, endocrine changes and myotonia.

Myotonic Dystrophy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

13

Genetic mutation found in myotonic dystrophy?

CTG Trinucleotide repeats(TOPNOTCH)

14

A point mutation wherein a single base pair is replaced but codes for the same amino acid, therefore has no effect on the functioning of the protein.

Silent mutation(TOPNOTCH)

15

An example of point mutation wherein a purine base is replaced by another purine base or a pyrimidine base is replaced by another pyrimidine base.

Transition(TOPNOTCH)

16

A point mutation wherein a purine is replaced by a pyrimidine or vice versa.

Transversion(TOPNOTCH)

17

Diseases caused by single gene defects are called?

Mendelian Disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

18

A condition wherein both dominant and recessive alleles of a gene pair may be fully expressed in the heterozygote.

Codominance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

19

The presence of many allelic forms of a single gene is called _______.

Polymorphism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

20

This occurs when one gene influences or leads to multiple phenotypic traits.

Pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

21

A phenomenon wherein a single phenotype or genetic disorder may be caused by mutations of several genetic loci or allele.

Genetic heterogeneity Note: compare with pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

22

A transmission pattern of inheritance which is manifested in the heterozygous state, wherein at least one parent of an index case is usually affected, both males and females are affected and both can transmit the condition.

Autosomal dominant (AD)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

23

This pattern of inheritance occur when BOTH of the alleles at a given gene locus are mutants, wherein the parents are not affected, but offspring have 1 in 4 chance (25%) of being affected.

Autosomal recessive(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

24

Pattern of inheritance wherein the disorder is transmitted by heterozygous female carriers only to 50% of the sons. An affected male does not transmit the disorder to sons but all daughters are carriers.

X-linked disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

25

An autosomal dominant disorder of connective tissues characterized by abnormally long legs, arms and fingers, joint hyperextensibility, pectus excavatum, lens subluxation and increased risk of aortic dissection.

Marfan Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

26

Integral component of elastic fibers defective in Marfan Syndrome.

Fibrillin 1(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

27

Fibrillin 1 is encoded by what gene?

FBN1 gene (chromosome 15q21)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

28

A collection of disorders caused by defects in collagen synthesis or structure, characterized by hyperextensible skin and joint hypermobility, rupture of internal organs and poor wound healing.

Ehlers-Danlos SyndromesThere are 6 variants to Ehlers-Danlos (nice to know)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.231

29

This autosomal recessive inborn error of metabolism is characterized by inability to convert phenylalanine to tyrosine, strong mousy or musty odor of urine and sweat, decreased pigmentation of hair and skin, eczema, seizures and mental retardation.

Phenylketonuria (PKU)(TOPNOTCH)

30

This autosomal dominant disorder is caused by a mutation in the gene that specifies the receptor for LDL, impairing the intracellular transport and catabolism of LDL.

Familial hypercholesterolemia(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.232

31

Enzyme deficient in classic PKU.

Phenylalanine hydroxylase (PAH)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.234

32

An autosomal recessive disorder of galactose metabolism characterized by jaundice, liver damage, cataracts, neural damage, vomiting and diarrhea.

Galactosemia(TOPNOTCH)

33

Deficiency of this enzyme can also cause symptoms of phenylketonuria due to decreased synthesis of a cofactor in the conversion of phenylalanine to tyrosine.

Dihydrobiopteridine reductase (DHPR)Enzyme responsible for the reduction of Dihydrobiopterin (BH2) to Tetrahydrobiopterin (BH4).(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.234

34

Enzyme deficient in galactosemia.

Galactose-1-phosphate uridyltransferase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.235

35

Lysosomal storage disease due to deficiency of glucosylceramidase.

Gaucher disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

36

Lysosomal storage disease due to deficiency of B-Hexosaminidase A.

Tay-Sachs disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

37

Lysosomal storage disease due to deficiency of a-Galactosidase A.

Fabry disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

38

Lysosomal storage disease due to deficiency of Sphingomyelinase.

Niemann-Pick disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

39

Lysosomal storage disease common among Ashkenazi Jews characterized by motor weakness, mental retardation, blindness, neurologic dysfunction and death.

Tay-Sachs disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

40

Lysosomal storage disease characterized by accumulation of glucosylceramide in mononuclear phagocytic cells, which enlarge, forming "wrinkled tissue paper" cytoplasmic appearance.

Gaucher disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

41

What do you call the pathognomonic cell characterized by "wrinkled tissue paper" cytoplasmic appearance.

Gaucher cell(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

42

These disorders result from the accumulation of mucopolysaccharides in many tissues including the liver, spleen, heart, blood vessels, brain, cornea and joints. Affected patients have coarse facial features.

Mucopolysaccharidoses(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

43

Mucopolysaccharidosis characterized by corneal clouding, coronary arterial and valvular depositions, which occurs due to deficiency of a-L-iduronidase, leading to accumulation of dermatan and heparan sulfate.

Hurler syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.239

44

An X-linked mucopolysaccharidosis which is due to a deficiency of L-iduronate sulfatase. Symptoms are similar to Hurler syndrome, but without corneal clouding.

Hunter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.239

45

Glycogen storage disease characterized by hepatomegaly, renomegaly, hypoglycemia, hyperlipidemia and hyperuricemia, leading to gout and skin xanthomas.

von Gierke's disease (Type I)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

46

von Gierke's disease is due to a deficiency of what enzyme?

Glucose-6-phosphatase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

47

Glycogen storage disease characterized by accumulation of glycogen in skeletal muscles leading to painful cramps during strenuous exercise and myoglobinuria.

McArdle syndrome (type V)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

48

Glycogen storage disease characterized by mild hepatomegaly, cardiomegaly, muscle hypotonia, and may lead to cardiorespiratory failure.

Pompe disease (type II)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

49

Enzyme deficient in McArdle syndrome.

Muscle phosphorylase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

50

These disorders may result from alterations in the number or structure of chromosomes and may affect autosomes or sex chromosomes.

Cytogenetic disorders(TOPNOTCH)

51

These disorders may result from alterations in the number or structure of chromosomes and may affect autosomes or sex chromosomes.

Cytogenetic disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.241

52

It is a term used to describe the presence of two or more populations of cells in the same individual.

Mosaicism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.242

53

This refers to a lack of one chromosome of the normal complement (e.g. XO).

Monosomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

54

This refers to the presence of three copies of a particular chromosome, instead of two.

Trisomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

55

This mechanism occurs due to the failure of chromosome pairs to separate properly during meiosis stage 1 or 2.

Nondisjunction(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243

56

This mechanism implies transfer of a part of one chromosome to another chromosome.

Translocation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243

57

This mechanism involves loss of a portion of a chromosome.

Deletion(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243

58

Patients with this syndrome have severe mental retardation, flat facial profile, epicanthic folds, cardiac malformations, increased risk of leukemia, and premature development of Alzheimer's disease.

Down syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

59

Down syndrome is also called _________

Trisomy 21(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

60

Trisomy 18 is also called ________ syndrome.

Edwards syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

61

Trisomy 13 is also called _________ syndrome.

Patau syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

62

Syndrome characterized by a prominent occiput, low set ears, micrognathia, rocker-bottom feet, renal malformation, mental retardation and heart defects.

Edwards syndrome / trisomy 18(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

63

Syndrome characterized by mental retardation, microcephaly, micropthalmia, polydactyly, cleft lip and palate, cardiac and renal defects, umbillical hernia and rocker-bottom feet.

Patau syndrome/Trisomy 13(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

64

Syndrome characterized by thymic hypoplasia with diminished T-cell immunity and parathyroid hypoplasia with hypocalcemia.

DiGeorge syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

65

Syndrome characterized by congenital heart disease affecting outflow tracts, facial dysmorphism and developmental delay.

Velocardiofacial syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

66

Deletion of genes from this chromosome gives rise to DiGeorge and velocardiofacial syndromes.

22q11.2Remember mnemonic CATCH22(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

67

The q from 22q11.2 refers to ________.

"Long arm" of chromosome 22.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

68

Syndrome defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.

Klinefelter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

69

Syndrome manifested by a eunochoid body habitus, reduced facial, body and pubic hair, gynecomastia, testicular atrophy, decreased serum testorerone and increased urinary gonadotropin levels. It is the most common cause of hypogonadism in males.

Klinefelter syndrome (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

70

Most common chromosomal derangement in Klinefelter syndrome.

47XXY(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

71

Syndrome which results from the partial or complete monosomy of the short arm of the X chromosome.

Turner syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247

72

Inheritance associated with mitochondrial DNA.

Maternal inheritance(TOPNOTCH)

73

Neurodegenerative disease which manifests as progressive bilateral loss of central vision that leads to blindness. This is the prototypical disorder of mutations in mitochondrial genes.

Leber hereditary optic neuropathy(TOPNOTCH)

74

Inheritance associated with mitochondrial DNA.

Maternal inheritance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247

75

An epigenetic process wherein certain genes are differentially "inactivated" during paternal and maternal gametogenesis.

Genomic imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.252

76

This refers to transcriptional silencing of the maternal allele.

Maternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

77

Refers to the transcriptional silencing of the paternal allele.

Paternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

78

Syndrome characterized by mental retardation, short stature, hypotonia, obesity, small hands and feet, and hypogonadism. Paternal imprinting.

Prader-Willi syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

79

Syndrome manifested as mental retardation, ataxic gait, seizures and inappropriate laughter. Also called the "happy puppet syndrome". Maternal imprinting.

Angelman syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

80

These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process.

Malformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

81

These result from secondary destruction of an organ or body region that was previously normal in development, due to an extrinsic disturbance in morphogenesis.

Disruptions(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

82

These are due to generalized compression of the growing fetus by abnormal biomechanical forces, for example uterine constraint.

Deformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

83

This refers to multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis. The initiating event may be a malformation, deformation or disruption.

Sequence(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

84

This refers to the presence of several defects that cannot be explained on the basis of a single localizing initiating error in morphogenesis.

Malformation syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

85

Elements of the TORCH complex.

TOxoplasmaTreponema pallidumRubellaCytomeglovirusHerpesvirus(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.256

86

Most common cause of neonatal mortality.

Congenital anomalies(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

87

Second most common cause of neonatal mortality.

Prematurity(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

88

Lungs of infants with this disease are normal size but are heavy and relatively airless. They have a mottled purple color, with poorly developed atelectatic alveoli.

Neonatal Respiratory Distress Syndrome / Hyaline Membrane Disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

89

Characteristic eosinophilic membranes line the respiratory bronchioles, alveolar ducts and random alveoli, which contain necrotic epithelial cells admixed with extravasated plasma proteins.

Hyaline Membrane Disease / Neonatal RDS(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

90

Two well known complications of high concentration ventilator administered oxygen in infants suffering from RDS.

Retrolental fibroplasia / retinopathy of prematurityBronchopulmonary dysplasia(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

91

Characteristic lesion in the retina of infants suffering from retrolental fibroplasia?

Neovascularization or retinal vessel proliferation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

92

Main component of pulmonary surfactant.

Dipalmitoylphosphatidylcholine (DPPC) ~40%(TOPNOTCH)

93

Characteristic abnormality in bronchopulmonary dysplasia?

Alveolar hypoplasia or a decrease in the number of mature alveoli.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

94

What is the fundamental abnormality in neonatal RDS?

Insufficient pulmonary surfactant(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

95

This condition occurs more commonly in very-low-birth-weight infants, as a result of intestinal ischemia, bacterial colonization of gut and formula milk feeding.

Necrotizing enterocolitis (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

96

Microscopic features of NEC.

Presence of submucosal gas bubbles, transmural coagulative necrosis, ulceration and bacterial colonization.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.259

97

Defined as the sudden death of an infant under 1 year of age which remains unexplained after a thorough investigation.

Sudden Infant Death Syndrome / SIDS(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.260

98

Multiple petechiae of the thymus, visceral and parietal pleura and epicardium, congested lungs with vascular engorgement with or without pulmonary edema.

Sudden Infant Death Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.260

99

Results from antibody-induced hemolytic disease in the newborn that is caused by blood group incompatibility between mother and fetus, leading to edema fluid accumulation.

Immune Hydrops(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

100

Erythroid precursors with large homogenous, intranuclear inclusions and a surrounding peripheral rim of residual chromatin can be seen in the bone marrow aspirate of an infant infected with this virus. This leads to development of non-immune hydrops.

Parvovirus B19(TOPNOTCH)

101

Isolated postnuchal fluid accumulation in fetuses with hydrops.

Cystic hygroma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

102

A lethal condition characterized by generalized edema of the fetus.

Hydrops fetalis(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

103

Increased hematopoietic activity leading to the presence of large number of immature red cells, including reticulocytes, normoblasts and erythroblasts. Characteristic finding in fetal anemia-associated hydrops.

Erythroblastosis fetalis(TOPNOTCH)

104

Primary gene defect in cystic fibrosis.

Abnormal CFTR (CF transmembrane conductance regulator) Chromosome 7q31.2(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.262

105

Lungs with extensive mucous plugging and dilated tracheobronchial tree. Pancreatic ducts dilated and plugged with eosinophilic mucin, atrophic parenchymal glands replaced by fibrous tissue. Hepatic steatosis, Azoospermia and infertility are some of the features of this disease.

Cystic fibrosis(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.262

106

Patients with cystic fibrosis are prone to developing infections caused by these three organisms.

S. aureusH. InfluenzaeP. aeruginosa(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.266

107

How is cystic fibrosis diagnosed?

Persistently elevated sweat chloride concentration(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

108

Most common tumors of infancy.

Hemangioma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

109

Microscopically normal cells or tissues that are present in abnormal locations.

Heterotopia or choristoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

110

Port wine stains are associted with these syndromes. (2)

von Hippel-Lindau Sturge-Weber syndromes(TOPNOTCH)

111

This refers to an excessive but focal overgrowth of cells and tissues native to the organ in which it occurs.

Hamartoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

112

Large, flat to elevated, irregular, red-blue masses in the skin.

Port wine stains(Large hemangiomas)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

113

These represent the lymphatic counterpart of hemangiomas characterized as cystic and cavernous spaces lined by endothelial cells and surrounded by lymphoid aggregates,usually containing pale fluid.

Lymphangiomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.268

114

What do you call the rosettes found in neuroblastomas?

Homer-Wright pseudorosettes(TOPNOTCH)

115

Most common germ cell tumors of childhood,associated with meningocoele and spina bifida.

Sacrococcygeal teratomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.268

116

Tumor of the adrenal medulla composed of small, primitive-appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets within a finely fibrillar matrix. Rosettes can be found in which tumor cells are concentrically arranged about a CENTRAL SPACE FILLED with neuropil.

Neuroblastomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.269

117

This is used in the screening of patients with neuroblastoma.

Urinary vanillylmandelic acid and homovanillic acid (VMA/HVA)(TOPNOTCH)

118

Differentiated lesions containing more large cells with vesicular nuclei and abundant eoinophilic cytoplasm, in the absence of neuroblasts, usually accompanied by mature spindle shaped Schwann cells.

Ganglioneuroma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.270

119

Disseminated neuroblastoma with multiple cuteaneous metastases with deep blue discoloration to the skin.

"Blueberry muffin baby"(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.270

120

This tumor is composed of small, round cells with large hyperchromatic nuclei and scant cytoplasm, with characteristic structures consisting of clusters of cuboidal or short columnar cells arranged around a CENTRAL LUMEN. The nuclei are displaced away from the lumen, which appears to have a limiting membrane.

Retinoblastoma(Differentiate with neuroblastoma)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

121

Rosettes in retinoblastoma are called _______.

Flexner-Wintersteiner rosettes(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

122

Clinicial findings include poor vision, strabismus, whitish hue to the pupils ("cat's eye reflex"), pain and tenderness to the eye.

Retinoblastoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

123

Most common primary tumor of the kidney in children.

Wilm's tumor / Nephroblastoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

124

Components of the WAGR syndrome.

Wilm's tumorAniridiaGenital abnormalitiesMental retardation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

125

Presents grossly as a large, solitary, well-circumscribed mass. On cut-section, tumor is soft, homogenous, and tan to gray, with occasional foci of hemorrhage, cystic degeneration and necrosis.

Wilm's tumor(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

126

Microscopically, a combination of blastemal, stromal and epithelial cell types is observed. (Triphasic combination) Blastemal components described as sheets of small blue cells with few distinctive features. Stromal cells are fibrocytic or myxoid in nature. Epithelial cells take the form of abortive tubules or glomeruli.

Wilm's tumor(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

127

Associated with inactivation of the WT1 gene of chromosome 11p13.

WAGR syndrome and Denys-Drash syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

128

Patient presents with mental retardation, motor incoordination, and blindness. Ophthalmologic exam showeed cherry-red spots on the macula. Brain showed neurons ballooned with cytoplasmic vacuoles. What is the enzyme deficiency?

Hexosaminidase A. (Case of Tay-Sachs Disease) (TOPNOTCH)

129

An 18 y/o male was recently diagnosed with a genetic disorder. His parents do not manifest the disease, but one of his parent carries the gene with phenotypic expression. Some of his relatives manifest the same disease but with different presentation. What type of Mendelian disorder does the patient most likely have?

Autosomal dominant disorder. With this type, some patient do not have affected parents, has variations in penetrance and expressivity, age at onset is delayed. (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 140

130

True or False. Male patient with hemophilia does not transmit the disorder to his sons, but all daughters are carriers.

True. Hemophilia is an X-linked disorder. (TOPNOTCH)

131

True or False. Female hemophilia carrier will transmit the disease to half her sons and half her daughter.

False. X-linked disorders are transmitted by heterozygous females to their sons, who manifest the disease. (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 142

132

True or False. Female hemophilia carrier will manifest with decrease Factor VIII.

False (TOPNOTCH)

133

True or False. In female hemophilia carrier, only one of the X chromosome shows abnormality.

True (TOPNOTCH)

134

True or False. In X-linked disorders, female carriers are usually protected because of random inactivation of one X chromosome.

True (TOPNOTCH)

135

True or False. In X-linked disorders, heterozygous female carrier will never manifest the disease.

False (TOPNOTCH)

136

A 26 y/o male was referred to a cardiologist due to presence of murmur at the aortic area. On history, patient suffered from severe myopia at the age of 6. His development was normal except that he was taller than the rest of his family members and friends. Examination of abdomen showed visible pulsation above the umbilicus. The most striking feature in this syndrome is:

Skeletal abnormalities. (case of Marfan Syndrome) (TOPNOTCH)

137

The most life-threatening feature of Marfan syndrome

Cardiovascular lesions (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 145

138

The 2 most common lesions of Marfan Syndrome

Mitral valve prolapse and dilation of ascending aorta (TOPNOTCH) Robbins Basic Pathology, 9th ed, p. 145

139

A 4 y/o male presented with cutaneous xanthomas on the extensor surfaces of his arms, knees, and elbow since he was 1 year old. He was found to have serum cholesterol greater than 1000 mg/dl and triglyceride level of 170 mg/dl. Both parents had high cholesterol levels. What is the cause of hypercholesterolemia in this condition?

Impared transport of LDL into the cells (Case of Familial Hypercholesterolemia) (TOPNOTCH)

140

A 6 mo old infant presented with failure to thrive, vomiting, fever, and hepatosplenomegaly. Progressive deterioration of the infant led to death. Autopsy finding showed lipid laden phagocytic foam cells widely distributed in the spleen, liver, lymph nodes, GIT and lungs. Tissue cells are enlarged, with innumerable vacuoles staining for fat, and lysosome contain concentric lamellated myelin figures. The patient is deficient of what enzyme?

Sphingomyelinase (case of Niemann-Pick Disease Type A) (TOPNOTCH)

141

A 1 y/o infant succumbed to death. Autopsy finding showed shrunken gyri and widened sulci. There is vacuolation and ballooning of neurons noted. Cells are enlarged with innumerable small vacuoles of uniform size, imparting foaminess to the cytoplasm. This is a case of:

Niemann-Pick Disease (TOPNOTCH)

142

Presents with fractures, bone pain and thrombocytopenia. Morphologic findings of distended phagocytic cells and have fibrillary type of cytoplasm, intensely positive for PAS staining.

Gaucher disease (TOPNOTCH)

143

A 21 y/o female of short stature presented with primary amenorrhea, shield-shaped chest, "thick neck", and absence of secondary female characteristics. Estrogen level were decreased, while FSH and LH are increased. What is the most likely diagnosis?

Turner syndrome (TOPNOTCH)

144

The most common chromosomal disorder

Down Syndrome(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 161

145

The most common genetic cause of mental retardation.

Down Syndrome(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 161

146

Most common pathogenesis of Trisomy 21

Meiotic nondisjunction (TOPNOTCH)

147

Most common congenital heart defects in Trisomy 21

Endocardial cushion defects(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 163

148

Why are patients with DiGeorge syndrome has T-cell immunodeficiency?

Because of thymic hypoplasia (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 163

149

A 14 y/o male presented with gynecomastia and small testes. He was noted to have difficulties in school when he was 8. He was tall for his age. You would suspect:

Klinefelter syndrome (TOPNOTCH)

150

Classic karyotype patttern of Klinefelter syndrome

47,XXY(TOPNOTCH)

151

Single most important cause of primary amenorrhea

Turner syndrome (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166

152

Most important cause of increased mortality in children with Turner syndrome.

Cardiovascular abnormalities (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166

153

Patient presents with mental retardation, long face with large mandible, large everted ears, and large testicles. The most likely diagnosis is:

Fragile X Syndrome (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169

154

Most distinctive feature of Fragile X syndrome

Macro-orchidism(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169

155

The neonate was noted to have microcephaly, short palpebral fissure, maxillary hypoplasia, growth retardation, and psychomotor disturbances. The mother denies intake of drugs during pregnancy. The most likely cause

Alcohol (TOPNOTCH)

156

Deficiency in homogentisic oxidase results in this condition which manifests black discoloration of the urine

Alkaptonuria (TOPNOTCH)

157

Most common cause of respiratory distress in the newborn

Hyaline Membrane Disease (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457

158

This teratogenic drug disrupts expression of homeobox proteins implicated in the patterning of lims, vertebrae, and craniofacial structures.

Valproic acid (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 456

159

Most commonly responsible for fetal growth restriction.

TORCH infections (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457

160

Most common maternal condition associated with SGA infants

Vascular diseases (chronic hypertension, preclampsia) (TOPNOTCH) Robbins Basic Pathology, 9th ed, p. 457

161

A 28 week old male delivered via CS by a diabetiic mother presented with dyspnea and cyanosis. Fine rales are heard over both lung fields. CXR revealed uniform minute reticulogranular densities, producing a ground glass appearance. The fundamental defect in this condition is:

Pulmonary surfactant (Case of RDS) (TOPNOTCH)

162

The most common cause of mortality in children ages 1-4 years old.

Accidents (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 452

163

A 28 week old male dies 20 hours after birth. Autopsy findings showed a solid, airless, and reddish purple lungs with poorly developed alveoli. Necrotic cellular debris incorporated within eosinophilic hyaline membranes lines the respiratory bronchioles, alveolar ducts and alveoli. The most likely cause of death of the neonae is:

Respiratory distress syndrome/Hyaline membrane disease (TOPNOTCH)

164

Premature infant, bottle-fed, developed bloody stool, abdominal distention. Abdominal radiograph showed pneumotis intestinalis. Diagnosis:

Necrotizing enterocolitis(TOPNOTCH)

165

Morphology: intestinal segment is distended, friable and congested, with transmural coagulative necrosis, ulceration, bacterial colonization, and submucosal bubbles.

Necrotizing enterocolitis(TOPNOTCH)

166

Most common cause of early-onset neonatal sepsis and early-onset bacterial meningitis

Group B streptococcus(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 460

167

The most serious threat of fetal hydrops

CNS damage -kernicterus (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 463

168

Most common site of neuroblastoma

Adrenal medulla (TOPNOTCH)

169

Presents with a large abdominal mass crossing the midline, hematuria, intestinal obstruction, and hypertension.

Wilm's tumor (TOPNOTCH)

170

A 22 year old male consults an ophthalmologist for sudden blindness on the right. He is found to have lens subluxation. He is unusually tall and lean, with long limbs and fingers. These findings are due to abnormalities in fibrillin 1, which is secreted by (A) megakaryocytes (B) fibroblasts (C) histiocytes (D) fibroclasts

fibroblasts (TOPNOTCH)Robbins Basic Pathology, 8th Ed, p 230

171

A lysosomal storage disease with a mutation in the gene that encodes glucosylceramidase presents with an accumulation of glucosylceramide in mononuclear phagocytic cells in the liver, spleen, and marrow. These pathognomonic cells are (A) enlarged, with a "wrinkled tissue paper" cytoplasm (B) epithelioid, with "slipper-shaped" nuclei (C) multinucleated, with 8 to 20 nuclei (D) studded with reddish brown cytoplasmic granules

enlarged, with a "wrinkled tissue paper" cytoplasm (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp237-238

172

A baby is born with epicanthic folds, flat facial profile, simian crease, and a gap between the first and second toe. Auscultation reveals a holosystolic murmur. The clinical findings are due to an extra chromosome that is most commonly caused by (A) meiotic duplication (B) meiotic nondisjunction (C) fertilization by two spermatozoa (D) translocation

meiotic nondisjunction (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 244

173

A premature female neonate admitted at the PICU develops sepsis, with blood cultures showing growth of Candida sp. She is also found to be persistently hypocalcemic. She dies on her 7th day. On autopsy, she was found to have fungal endocarditis and thymic hypoplasia. She most likely has (A) an extra chromosome 22 (B) a deletion in chromosome 22 (C) a 9:22 chromosomal translocation (D) a duplication in chromosome 22

a deletion in chromosome 22 (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 245-246

174

A stillborn fetus is found to have polydactyly, an umbilical hernia, and cleft lip and palate. Autopsy showed a ventral septal defect, renal dysplasia, and holoprosencephaly. Karyotyping will likely show (A) Monosomy X (B) Deletion in chromosome 5 (C) Trisomy 13 (D) Trisomy 18

Trisomy 13 (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 245.

175

A 19 year old female consults a gynecologist for primary amenorrhea. Apart from her short stature, there are no other unusual clinical findings. Why must Turner Syndrome be ruled out? (A) mosaicism or partial monosomy may produce a mild form of the syndrome (B) 45,X abnormalities manifest in only half of females by the age of 18 (C) when combined with Fragile X, the typical features such as neck webbing and cubitus valgus are masked (D) supplementation with folate during gestation masks the typical features of neck webbing and cubitus valgus

mosaicism or partial monosomy produces a milder form (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp247-248

176

A stillborn male fetus delivered to a 41 year old G7P7 is found to have flattened facies and clubbed feet. Autopsy showed renal agenesis and pulmonary hypoplasia. What is the main culprit of the findings in the fetus? (A) maternal age (B) multiparity (C) renal agenesis (D) pulmonary hypoplasia

renal agenesis (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 253-254

177

A G3P3 mother has premature rupture of membranes at 35 weeks age of gestation, and delivers a live baby boy with poor APGAR scores. The obstetrician delivered a placenta with dull-looking membranes, which showed chorioamnionitis on histopathology. Culture of which organism from the placental tissue suggests an transcervical origin of infection? (A) Group B Streptococcus (B) Toxoplasma (C) Plasmodium (D) Rubella

Group B Streptococcus (TOPNOTCH)Robbins Basic Pathology, 8th Ed p. 256

178

A G1P1 preeclamptic mother delivers a live baby boy at 27 weeks age of gestation. The baby develops respiratory distress a few minutes later and is admitted at the PICU. He dies the next day, and is sent for autopsy. Which of the following supports respiratory distress syndrome of the newborn? (A) thickened alveolar septa with lymphocytic infiltrates (B) alveolar spaces filled with neutrophils (C) eosinophilic material lining the alveolar walls (D) hemosiderin laden macrophages in the alveolar spaces

eosinophilic material lining the alveolar walls (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 257-258

179

A premature male neonate who was delivered at 33 weeks AOG and admitted at the PICU develops abdominal distention, bloody stools, and hypotension. An abdominal radiograph shows gas within the intestinal wall. What is the expected histologic findings of the involved intestine? (A) coagulative necrosis of the mucosa and muscularis (B) arteriovenous fistulas in the submucosa (C) melanosis of the mucosa (D) crypt abscesses and noncaseating granulomas

coagulative necrosis of the mucosa and muscularis (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 259

180

What is the most common autopsy finding in sudden infant death syndrome? (A) patent ductus arteriosus (B) multiple petechiae in the thymus and pleural surfaces (C) bilateral adrenal hemorrhage (D) flattening of gyri in the cerebral cortex

multiple petechiae on the thymus and visceral surfaces (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 260

181

How does parvovirus B19 infection cause fetal hydrops? (A) it causes a chronic myocarditis leading to heart failure (B) it infects the lymphatic ducts causing peripheral fluid accumulation (C) it causes placental villi atrophy, exposing the fetal circulation to maternal antibodies (D) it infects erythroid precursors, causing anemia

it infects erythroid precursors, causing anemia (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 262

182

A 4 month old infant with abdominal enlargement presents with multiple bluish-gray subcutaneous nodules. Workup showed a 10 cm mass in the paravertebral region. Biopsy of the nodules showed small round cells with dark nuclei scanty cytoplasm, some forming rosettes arranged in a finely fibrillar matrix. Immunohistochemical studies showed the cells to be positive for neuron specific enolase and negative for leucocyte common antigen. These tumor cells are derived from (A) antigen presenting cells in the dermis (B) neural crest (C) nephrogenic rests (D) lymphoid precursors

neural crest (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 269-270

183

A 2 year old male is noticed to have a whitish pupil on photographs. Workup showed a tumor in the posterior chamber. The eye is enucleated, and the tumor shows sheets of small round cells with hyperchromatic nuclei and scant cytoplasm. Occasional clustering around central lumens are seen. On further history, a cousin also had a similar tumor and died. The patient has an increased risk of developing which tumour later in life: (A) hepatoblastoma (B) pheochromocytoma (C) osteosarcoma (D) Wilms tumour

osteosarcoma (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 271

184

A 4 year old female undergoes left nephrectomy for Wilms tumor. Which of the following findings in the nephrectomy specimen is associated with an increased risk of developing the same tumor in the right kidney? (A) nephrogenic rests (B) abortive tubules or glomeruli (C) extensive fibrosis (D) adipose tissue, cartilage, and osteoid

nephrogenic rests (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 272