VII - Genetic and Pediatric Diseases Flashcards
(182 cards)
1
Q
Question
A
Answer
2
Q
These disorders are derived from one’s parents, transmitted through gametes through the generations, and are therefore familial.
A
Hereditary disorders(TOPNOTCH)
3
Q
This term literally means “present at birth”.
A
Congenital(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
4
Q
This term refers to permanent changes in the DNA.
A
Mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
5
Q
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
6
Q
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
7
Q
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
8
Q
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
9
Q
These mutations are characterized by amplification of a sequence of three nucleotides.
A
Trinucleotide repeat mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
10
Q
Disease characterized by CGG trinucleotide repeats.
A
Fragile X Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
11
Q
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
12
Q
Genetic mutation in Huntington’s disease?
A
CAG trinucleotide repeats(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229
13
Q
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
14
Q
Genetic mutation found in myotonic dystrophy?
A
CTG Trinucleotide repeats(TOPNOTCH)
15
Q
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)
16
Q
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)
17
Q
A point mutation wherein a purine is replaced by a pyrimidine or vice versa.
A
Transversion(TOPNOTCH)
18
Q
Diseases caused by single gene defects are called?
A
Mendelian Disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
19
Q
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
20
Q
The presence of many allelic forms of a single gene is called _______.
A
Polymorphism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
21
Q
This occurs when one gene influences or leads to multiple phenotypic traits.
A
Pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
22
Q
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
23
Q
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
24
Q
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
25
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
26
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
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Integral component of elastic fibers defective in Marfan Syndrome.
Fibrillin 1(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230
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Fibrillin 1 is encoded by what gene?
FBN1 gene (chromosome 15q21)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230
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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
30
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)
31
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
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Enzyme deficient in classic PKU.
Phenylalanine hydroxylase (PAH)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.234
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An autosomal recessive disorder of galactose metabolism characterized by jaundice, liver damage, cataracts, neural damage, vomiting and diarrhea.
Galactosemia(TOPNOTCH)
34
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
35
Enzyme deficient in galactosemia.
Galactose-1-phosphate uridyltransferase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.235
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Lysosomal storage disease due to deficiency of glucosylceramidase.
Gaucher disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236
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Lysosomal storage disease due to deficiency of B-Hexosaminidase A.
Tay-Sachs disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236
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Lysosomal storage disease due to deficiency of a-Galactosidase A.
Fabry disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236
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Lysosomal storage disease due to deficiency of Sphingomyelinase.
Niemann-Pick disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236
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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
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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
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What do you call the pathognomonic cell characterized by "wrinkled tissue paper" cytoplasmic appearance.
Gaucher cell(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238
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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
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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
45
An X-linked mucopolysaccharidosis which is due to a deficiency of L-iduronate sulfatase. Symptoms are similar to Hurler sundrome, but without corneal clouding.
Hunter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.239
46
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
47
von Gierke's disease is due to a deficiency of what enzyme?
Glucose-6-phosphatase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240
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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
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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
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Enzyme deficient in McArdle syndrome.
Muscle phosphorylase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240
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These disorders may result from alterations in the number or structure of chromosomes and may affect autosomes or sex chromosomes.
Cytogenetic disorders(TOPNOTCH)
52
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
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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
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This refers to a lack of one chromosome of the normal complement (e.g. XO).
Monosomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244
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This refers to the presence of three copies of a particular chromosome, instead of two.
Trisomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244
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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
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This mechanism implies transfer of a part of one chromosome to another chromosome.
Translocation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243
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This mechanism involves loss of a portion of a chromosome.
Deletion(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243
59
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
60
Down syndrome is also called _________
Trisomy 21(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245
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Trisomy 18 is also called ________ syndrome.
Edwards syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245
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Trisomy 13 is also called _________ syndrome.
Patau syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244
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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
64
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
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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
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Syndrome characterized by congenital heart disease affecting outflow tracts, facial dysmorphism and developmenta delay.
Velocardiofacial syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245
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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
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The q from 22q11.2 refers to ________.
Long arm of chromosome 22.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246
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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
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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.
Klinefelter syndrome (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246
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Most common chromosomal derangement in Klinefelter syndrome.
47XXY(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246
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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
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Inheritance associated with mitochondrial DNA.
Maternal inheritance(TOPNOTCH)
74
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)
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Inheritance associated with mitochondrial DNA.
Maternal inheritance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247
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An epigenetic process wherein certain genes are differentially "inactivated" during paternal and maternal gametogenesis.
Genomic imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.252
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This refers to transcriptional silencing of the maternal allele.
Maternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251
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Refers to the transcriptional silencing of the paternal allele.
Paternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251
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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
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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
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These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process.
Malformations(TOPNOTCH)
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These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process.
Malformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254
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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
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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
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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
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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
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Elements of the TORCH complex.
TOxoplasmaTreponema pallidumRubellaCytomeglovirusHerpesvirus(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.256
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Most common cause of neonatal mortality.
Congenital anomalies(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253
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Second most common cause of neonatal mortality.
Prematurity(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257
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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
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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
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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
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Characteristic lesion in the retina of infants suffering from retrolental fibroplasia?
Neovascularization or retinal vessel proliferation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258
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Main component of pulmonary surfactant.
Dipalmitoylphosphatidylcholine (DPPC) ~40%
95
Characteristic abnormality in bronchopulmonary dysplasia?
Alveolar hypoplasia or a decrease in the number of mature alveoli.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258
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What is the fundamental abnormality in neonatal RDS?
Insufficient pulmonary surfactant(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258
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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
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Microscopic features of NEC.
Presence of submucosal gas bubbles, transmural coagulative necrosis, ulceration and bacterial colonization.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.259
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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
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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
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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.
Immune Hydrops(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261
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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)
103
Isolated postnuchal fluid accumulation in fetuses with hydrops.
Cystic hygroma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261
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A lethal condition characterized by generalized edema of the fetus.
Hydrops fetalis(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261
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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.
Erythroblastosis fetalis(TOPNOTCH)
106
Primary gene defect in cystic fibrosis.
Abnormal CFTR (CF transmembrane conductance regulator) Chromosome 7q31.2(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.262
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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
108
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
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How is cystic fibrosis diagnosed?
Persistently elevated sweat chloride concentration(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267
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Most common tumors of infancy.
Hemangioma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267
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Microscopically normal cells or tissues that are present in abnormal locations.
Heterotopia or choristoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267
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Port wine stains are associted with these syndromes. (2)
von Hippel-Lindau Sturge-Weber syndromes(TOPNOTCH
113
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
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Large, flat to elevated, irregular, red-blue masses in the skin.
Port wine stains(Large hemangiomas)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267
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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
116
What do you call the rosettes found in neuroblastomas?
Homer-Wright pseudorosettes(TOPNOTCH)
117
Most common germ cell tumors of childhood,associated with meningocoele and spina bifida.
Sacrococcygeal teratomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.268
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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
119
This is used in the screening of patients with neuroblastoma.
Urinary vanillylmandelic acid and homovanillic acid (VMA/HVA)(TOPNOTCH)
120
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
121
Disseminated neuroblastoma with multiple cuteaneous metastases with deep blue discoloration to the skin.
Blueberry muffin baby(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.270
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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
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Rosettes in retinoblastoma are called _______.
Flexner-Wintersteiner rosettes(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271
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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
125
Most common primary tumor of the kidney in children.
Wilm's tumor / Nephroblastoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271
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Components of the WAGR syndrome.
Wilm's tumorAniridiaGenital abnormalitiesMental retardation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272
127
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
128
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
129
Associated with inactivation of the WT1 gene of chromosome 11p13.
WAGR syndrome and Denys-Drash syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272
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Type of Congenital Anomalies: Amniotic bands
Disruptions
131
MOST common cause of deformation
Uterine constraint
132
Cause of Potter sequence leading to clubbed feet, pulmonary hypoplasia and cranial anomalies
Oligohydramnios
133
CV congenital defect in Rubella
PDA
134
Substances increased in Retrolental fibroplasia
VEGF
135
Pathogenesis of NEC
Transmural migration of bacteria
136
Hydrops Fetalis: Microorganism involved
Parvovirus B19
137
PKU: Enzyme dysfunction inability to convert Phe to Tyr
PAH
138
PKU: imparts strong musty or mousy odor
Phenylacetic acid
139
Galactosemia: Enzymes(2)? MOST common?
G1P - UDP transferase - MOST, galactokinase
140
SIDS: MOST death happen in what months?
2-4 months
141
SIDS: MOST common finding
multiple petechiae Others: hypoplasia of arcuate nucleus, persistent hepatic extramedullary hematopoiesis and periadrenal brown fat
142
MOST common tumor in infancy
Hemangiomas
143
MOST common extracranial solid tumor of childhood
Neuroblastoma
144
Neuroblastoma: derivation?
primordial neural crest
145
Neuroblastoma: oncogene involved
N-MYC
146
Neuroblastoma: Morpho findings (3)
1. neurophil 2. Homer-Wright pseudorosettes - tumor cells concentrically arranged about a central space 3. blueberry muffin baby
147
Rosette in Pathology: In neuroblastoma, Medulloblastoma, PNETs
Homer-Wright
148
Rosette in Pathology: Retinoblastoma
Flexner-Wintersteiner
149
Rosette in Pathology: Ependymoma
True Ependymal
150
Rosette in Pathology: Ependymoma, PNETs, glioblastoma
Perivascular
151
Wilm's Tumor: Morphology
Triphasic combination of blastemal, stromal and epithelial cell types
152
Problem in VHL
on chromosome 3 - 3 letters
153
How to memorize VHL
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HIPPEL:
Hemanigoblastomas
Increased renal cancer
Pheochromocytoma
Port-wine stains
Eye dysfunction
Liver, pancreas, kidney cysts
· Bare bones version: Hippel-Lindau, with H and L as above
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154
sarcoma, cancers of the breast, brain and adrenal glands
LiFraumeni syndrome
155
Chromosome affected in Li-Fraumeni
LI-Fraumeni: Take the LI and rotate it 180 degrees and you should have: 17.
156
TSG in LFS
p53 on 17p
157
How to memorize LFS
BABBS - sarcoma, cancers of the breast, brain and adrenal glands
158
How to memorize tyrosine kinase
Able, Tyred (tired) Erb Retired." (I like to read it 'although still able, Erb retired because he was tired'); Abl - CML
Erb-B2 - breast, ovarian
Ret- MEN 2A, 2B
159
Problem in Burkitts lymphoma
c-myc; t(8:14)
160
Problem in Follicular lymphoma
bcl-2
161
Problem in colon cancer
Ras, a GTPase
162
Affected chromosomes, p53, Rb, BRCA1 and 2
Alphabetically, p53 and Rb are in order, just like BRCA1 and BRCA2. So, BRCA1 is 17, and BRCA2 is 13.
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rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein,[2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism and peripheral neuropathy.
Chediak Higashi syndrome
164
How to memorize Chediak Higashi
Chediak Higashi Mnemonic!
CHINA
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Chediak
Higashi
Infections - Lukopenia
Neuropathy
Albanism
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165
Hunter vs Hurler
Hunter has corneal clouding
166
Hunter's unique genetic property vs Storage disease
All are AR except hunter which is X linked. so the Hunter is pointing his gun to the X target. Hurler who's like Hunter [is Mucopolysaccharidosis] but because of corneal clouding he can't hunt well.
167
Problem in Niemann Pick
No man picks is nose with hi- Sphinger
168
Cherry red spot is found in these 2
Cherry-Red spot is a hyphenated term and so as Nieman-Pick and Tay-Sach
169
Globoid cells
Krabbe's Disease
170
Metachromatic Leukodystrophy enzyme deficient
the name came from metachomasia (Yellow brown color shift of the sulfatides crystals with toluidine blue).
Arysulfatase A deficiency
171
How to remember glycogen storage disease
Very Poor Casing And Metabolism of Hers
Note: casing refers to storage
I- Von Gierke's (Glu6P deficiency)
II- Pompe's (lysosmal 1,4 glucosidase)
III- Cori (1,6 glucosidase)
IV- Anderson (glycogen branching enzyme)
V- McArdles (Muscle GlycogenPhosphoylase )
VI- Hers disease (Hepatic Glycogen Phosphorylase)
172
Cori vs Anderson
A=Anderson B=Branching enz
| C=Cori D=Debranching
173
Autosomal Dominant Diseases
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Osler Family is Hyper because Mary Huntington Von Turbo Sphereing MEN Across Hill. Osler-Weber-Rendu syndrome (Osler)
Familial hypercholesterolemia (Family Hyper)
Marfan's syndrome (Mary)
Huntington's disease (Huntington)
Von Recklinghausen's Disease (Von)
von Hippel-Lindau disease (Von)
Tuberous sclerosis (Turbo)
Hereditary spherocytosis (Sphereing)
Multiple endocrine neoplasias (MEN)
Achondroplasia (Across)
Hypokalemic periodic paralysis (Hill)
Autosomal dominant polycystic kidney disease (ADPKD)
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174
Down Syndrome: small white spots on the periphery of the iris
Brushfield spots
175
Down Syndrome: most common congenital defect
AVSD
176
Content of triple screen
HCG, Estriol, AFP
177
Added to be quadruple screen
Inhibin A
178
Problem in Cri du chat syndrome
deletionof the short arm of chromosome 5
179
Problem in DIGEorge syndrome
microdeletion of 22q11,
180
Second most common cause of MR
Fragile X syndrome
181
hereditary hemorrhagic telangiectasia is aka
osler-Weber-rendu syndrome
182
NF 1 vs NF 2
NF 2 has hearing loss due to schwannomas and chromosome 22; NF 1 is 17
