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Pathology Flashcards > VII - Genetic and Pediatric Diseases > Flashcards

VII - Genetic and Pediatric Diseases Flashcards

1
Q

Pathology Flashcards

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

A

Hereditary disorders(TOPNOTCH)

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2
Q

Pathology Flashcards

This term literally means “present at birth”.

A

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

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3
Q

Pathology Flashcards

This term refers to permanent changes in the DNA.

A

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

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4
Q

Pathology Flashcards

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.

A

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

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5
Q

Pathology Flashcards

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

A

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

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6
Q

Pathology Flashcards

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

A

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

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7
Q

Pathology Flashcards

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

A

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

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8
Q

Pathology Flashcards

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

A

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

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9
Q

Pathology Flashcards

Disease characterized by CGG trinucleotide repeats.

A

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

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10
Q

Pathology Flashcards

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

A

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

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11
Q

Pathology Flashcards

Genetic mutation in Huntington’s disease?

A

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

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12
Q

Pathology Flashcards

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

A

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

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13
Q

Pathology Flashcards

Genetic mutation found in myotonic dystrophy?

A

CTG Trinucleotide repeats(TOPNOTCH)

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14
Q

Pathology Flashcards

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.

A

Silent mutation(TOPNOTCH)

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15
Q

Pathology Flashcards

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.

A

Transition(TOPNOTCH)

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16
Q

Pathology Flashcards

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

A

Transversion(TOPNOTCH)

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17
Q

Pathology Flashcards

Diseases caused by single gene defects are called?

A

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

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18
Q

Pathology Flashcards

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

A

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

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19
Q

Pathology Flashcards

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

A

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

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20
Q

Pathology Flashcards

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

A

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

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21
Q

Pathology Flashcards

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

A

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

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22
Q

Pathology Flashcards

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.

A

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

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23
Q

Pathology Flashcards

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.

A

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

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24
Q

Pathology Flashcards

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.

A

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

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25
Q

Pathology Flashcards

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.

A

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

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26
Q

Pathology Flashcards

Integral component of elastic fibers defective in Marfan Syndrome.

A

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

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27
Q

Pathology Flashcards

Fibrillin 1 is encoded by what gene?

A

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

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28
Q

Pathology Flashcards

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.

A

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

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29
Q

Pathology Flashcards

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.

A

Phenylketonuria (PKU)(TOPNOTCH)

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30
Q

Pathology Flashcards

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.

A

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

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31
Q

Pathology Flashcards

Enzyme deficient in classic PKU.

A

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

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32
Q

Pathology Flashcards

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

A

Galactosemia(TOPNOTCH)

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33
Q

Pathology Flashcards

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

A

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

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34
Q

Pathology Flashcards

Enzyme deficient in galactosemia.

A

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

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35
Q

Pathology Flashcards

Lysosomal storage disease due to deficiency of glucosylceramidase.

A

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

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36
Q

Pathology Flashcards

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

A

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

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37
Q

Pathology Flashcards

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

A

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

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38
Q

Pathology Flashcards

Lysosomal storage disease due to deficiency of Sphingomyelinase.

A

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

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39
Q

Pathology Flashcards

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

A

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

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40
Q

Pathology Flashcards

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

A

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

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41
Q

Pathology Flashcards

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

A

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

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42
Q

Pathology Flashcards

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.

A

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

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43
Q

Pathology Flashcards

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.

A

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

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44
Q

Pathology Flashcards

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

A

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

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45
Q

Pathology Flashcards

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

A

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

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46
Q

Pathology Flashcards

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

A

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

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47
Q

Pathology Flashcards

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

A

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

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48
Q

Pathology Flashcards

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

A

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

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49
Q

Pathology Flashcards

Enzyme deficient in McArdle syndrome.

A

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

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50
Q

Pathology Flashcards

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

A

Cytogenetic disorders(TOPNOTCH)

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51
Q

Pathology Flashcards

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

A

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

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52
Q

Pathology Flashcards

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

A

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

53
Q

Pathology Flashcards

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

A

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

54
Q

Pathology Flashcards

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

A

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

55
Q

Pathology Flashcards

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

A

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

56
Q

Pathology Flashcards

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

A

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

57
Q

Pathology Flashcards

This mechanism involves loss of a portion of a chromosome.

A

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

58
Q

Pathology Flashcards

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.

A

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

59
Q

Pathology Flashcards

Down syndrome is also called _________

A

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

60
Q

Pathology Flashcards

Trisomy 18 is also called ________ syndrome.

A

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

61
Q

Pathology Flashcards

Trisomy 13 is also called _________ syndrome.

A

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

62
Q

Pathology Flashcards

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

A

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

63
Q

Pathology Flashcards

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

A

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

64
Q

Pathology Flashcards

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

A

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

65
Q

Pathology Flashcards

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

A

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

66
Q

Pathology Flashcards

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

A

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

67
Q

Pathology Flashcards

The q from 22q11.2 refers to ________.

A

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

68
Q

Pathology Flashcards

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

A

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

69
Q

Pathology Flashcards

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

A

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

70
Q

Pathology Flashcards

Most common chromosomal derangement in Klinefelter syndrome.

A

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

71
Q

Pathology Flashcards

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

A

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

72
Q

Pathology Flashcards

Inheritance associated with mitochondrial DNA.

A

Maternal inheritance(TOPNOTCH)

73
Q

Pathology Flashcards

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.

A

Leber hereditary optic neuropathy(TOPNOTCH)

74
Q

Pathology Flashcards

Inheritance associated with mitochondrial DNA.

A

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

75
Q

Pathology Flashcards

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

A

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

76
Q

Pathology Flashcards

This refers to transcriptional silencing of the maternal allele.

A

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

77
Q

Pathology Flashcards

Refers to the transcriptional silencing of the paternal allele.

A

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

78
Q

Pathology Flashcards

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

A

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

79
Q

Pathology Flashcards

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

A

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

80
Q

Pathology Flashcards

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

A

Malformations(TOPNOTCH)

81
Q

Pathology Flashcards

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

A

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

82
Q

Pathology Flashcards

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

A

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

83
Q

Pathology Flashcards

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

A

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

84
Q

Pathology Flashcards

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.

A

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

85
Q

Pathology Flashcards

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

A

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

86
Q

Pathology Flashcards

Elements of the TORCH complex.

A

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

87
Q

Pathology Flashcards

Most common cause of neonatal mortality.

A

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

88
Q

Pathology Flashcards

Second most common cause of neonatal mortality.

A

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

89
Q

Pathology Flashcards

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.

A

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

90
Q

Pathology Flashcards

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

A

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

91
Q

Pathology Flashcards

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

A

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

92
Q

Pathology Flashcards

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

A

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

93
Q

Pathology Flashcards

Main component of pulmonary surfactant.

A

Dipalmitoylphosphatidylcholine (DPPC) ~40%

94
Q

Pathology Flashcards

Characteristic abnormality in bronchopulmonary dysplasia?

A

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

95
Q

Pathology Flashcards

What is the fundamental abnormality in neonatal RDS?

A

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

96
Q

Pathology Flashcards

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.

A

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

97
Q

Pathology Flashcards

Microscopic features of NEC.

A

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

98
Q

Pathology Flashcards

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

A

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

99
Q

Pathology Flashcards

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

A

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

100
Q

Pathology Flashcards

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

A

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

101
Q

Pathology Flashcards

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.

A

Parvovirus B19(TOPNOTCH)

102
Q

Pathology Flashcards

Isolated postnuchal fluid accumulation in fetuses with hydrops.

A

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

103
Q

Pathology Flashcards

A lethal condition characterized by generalized edema of the fetus.

A

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

104
Q

Pathology Flashcards

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

A

Erythroblastosis fetalis(TOPNOTCH)

105
Q

Pathology Flashcards

Primary gene defect in cystic fibrosis.

A

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

106
Q

Pathology Flashcards

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.

A

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

107
Q

Pathology Flashcards

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

A

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

108
Q

Pathology Flashcards

How is cystic fibrosis diagnosed?

A

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

109
Q

Pathology Flashcards

Most common tumors of infancy.

A

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

110
Q

Pathology Flashcards

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

A

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

111
Q

Pathology Flashcards

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

A

von Hippel-Lindau Sturge-Weber syndromes(TOPNOTCH

112
Q

Pathology Flashcards

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

A

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

113
Q

Pathology Flashcards

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

A

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

114
Q

Pathology Flashcards

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.

A

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

115
Q

Pathology Flashcards

What do you call the rosettes found in neuroblastomas?

A

Homer-Wright pseudorosettes(TOPNOTCH)

116
Q

Pathology Flashcards

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

A

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

117
Q

Pathology Flashcards

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.

A

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

118
Q

Pathology Flashcards

This is used in the screening of patients with neuroblastoma.

A

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

119
Q

Pathology Flashcards

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.

A

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

120
Q

Pathology Flashcards

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

A

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

121
Q

Pathology Flashcards

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.

A

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

122
Q

Pathology Flashcards

Rosettes in retinoblastoma are called _______.

A

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

123
Q

Pathology Flashcards

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

A

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

124
Q

Pathology Flashcards

Most common primary tumor of the kidney in children.

A

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

125
Q

Pathology Flashcards

Components of the WAGR syndrome.

A

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

126
Q

Pathology Flashcards

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.

A

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

127
Q

Pathology Flashcards

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.

A

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

128
Q

Pathology Flashcards

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

A

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

Pathology Flashcards (23 decks)

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