VII - Genetic and Pediatric Diseases Flashcards Preview

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


Main component of pulmonary surfactant.

Dipalmitoylphosphatidylcholine (DPPC) ~40%(TOPNOTCH)


Characteristic abnormality in bronchopulmonary dysplasia?

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


What is the fundamental abnormality in neonatal RDS?

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


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


Microscopic features of NEC.

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


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


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


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


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)


Isolated postnuchal fluid accumulation in fetuses with hydrops.

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


A lethal condition characterized by generalized edema of the fetus.

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


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)


Primary gene defect in cystic fibrosis.

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


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


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


How is cystic fibrosis diagnosed?

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


Most common tumors of infancy.

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


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

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


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

von Hippel-Lindau Sturge-Weber syndromes(TOPNOTCH)


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


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

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


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


What do you call the rosettes found in neuroblastomas?

Homer-Wright pseudorosettes(TOPNOTCH)


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

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


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


This is used in the screening of patients with neuroblastoma.

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


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


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

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


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