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MOD II Exam I > Chapter 10 > Flashcards

Chapter 10 Flashcards

1
Q

Primary cause of death in infants younger than 1 year

A

Congenital malformations, deformations, and chromosomal abnormalities

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2
Q

Primary cause of death in children age 1-4

A

Accidents (unintentional injury)

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3
Q

Primary cause of death in children 5-9

A

Accidents (unintentional injury)

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4
Q

Primary cause of death in children 10-14

A

Accidents (unintentional injury)

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5
Q

Primary errors of morphogenesis in which there is intrinsically abnormal developmental process; typically multifactorial in origin

A

Malformations

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6
Q

Examples of malformations

A

Congenital heart defects
Anencephaly
Polydactyly or syndactyly
Cleft palate

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7
Q

_____ result from secondary destruction of an organ or body region previously normal in development; arise from extrinsic disturbance in morphogenesis

A

Disruption

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8
Q

Examples of disruption

A

Amniotic bands

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9
Q

Example of deformation

A

Clubfeet

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10
Q

Fetal phenotype associated with Potter sequence

A 
Flattened facies
Positional abnormalities of hands and feet
Hips may be dislocated
Hypoplastic lungs
Nodules in amnion
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11
Q

General cause of holoprosencephaly

A

Genetic — mendelian inheritance

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12
Q

Clinical features of fetal alcohol syndrome

A 
Growth retardation
Microcephaly
Short palpebral fissures
Maxillary hypoplasia
Psychomotor disturbance
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13
Q

Etiology/associations with neonatal respiratory distress syndrome

A

Excess sedation of mother, fetal head injury during delivery, aspiration of blood or amniotic fluid, intrauterine hypoxia from cord around neck

Associated with male gender, maternal diabetes, and delivery by C section

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14
Q

What therapy can be administered prior to birth if the fetuses lungs are underdeveloped?

A

Glucocorticoids

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15
Q

2 major complications of ventilation used to treat neonatal RDS

A

Retinopathy of prematurity (retrolental fibroplasia) — leads to retinal vessel proliferation

Bronchopulmonary dysplasia — striking decrease in alveolar septation

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16
Q

Infants who recover from neonatal RDS are at increased risk for what conditions?

A

Patent ductus arteriosus
Intraventricular hemorrhage
Necrotizing enterocolitis

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17
Q

Etiology/associations with necrotizing enterocolitis

A

Most common in premature infants

Most cases associated with enteral feeding, suggesting that some postnatal insult (like introduction of bacteria) causes tissue destruction process

Inflammatory mediators

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18
Q

What inflammatory mediator is implicated in necrotizing enterocolitis — playing a role in increasing mucosal permeability by promoting enterocyte apoptosis and compromising intercellular tight junctions?

A

PAF

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19
Q

Define fetal hydrops and differentiate immune vs. nonimmune

A

Fetal hydrops = accumulation of edema fluid in fetus during intrauterine growth

Immune: type II HSR associated with Rh-group incompatibility

Nonimmune: most commonly associated with cardiovascular issues, chromosomal issues, or fetal anemia

20
Q

Morphology and clinical features of fetal hydrops

A

Pale fetus and placenta
Hepatosplenomegaly
Hyperplastic erythroid precursors in bone marrow
Extramedullary hematopoiesis in liver, spleen, kidneys, etc.
Jaundice d/t unconjugated bili
Kernicterus

21
Q

2 primary routes by which perinatal infections are acquired

A

Transcervically — most bacterial and a few viral; inhalation of infected amniotic fluid or passing through infected birth canal

Transplacentally (hematologic) — most parasitic and viral, some bacterial (listeria, treponema); gain access to fetal bloodstream via chorionic villi

22
Q

Transplacentally acquired pathogen resulting in erythema infectiosum, characterized by spontaneous abortion, stillbirth, hydrops fetalis, and congenital anemia

A

Parvovirus B19

23
Q

Describe TORCH group of infections in terms of clinical features and chronic sequelae

A

Fever, encephalitis, chorioretinitis, HSM, pneumonitis, myocarditis, hemolytic anemia, vesicular or hemorrhagic skin lesions

Chronic sequelae: growth and mental retardation, cataracts, congenital cardiac anomalies, bone defects

24
Q

Enzyme deficiency and clinical presentation of PKU

A

Enzyme def: PAH

Clinical presentation: hyperphenylalaninemia — severe mental retardation by 6 mos, seizures and other neurologic problems, decreased pigmentation of hair and skin, eczema, strong musty odor to urine

25
Q

Enzyme deficiency and clinical presentation of galactosemia

A

2 possible enzyme def: most common is lack of galactose-1-phosphate uridyl transferase (GALT), rare is deficiency of galactokinase

Results in accumulation of galactose-1-phosphate in liver, spleen, lens, kidneys, heart muscle, cerebral cortex, and erythrocytes. Also accumulation of galactitol and galactonate in tissues.

Liver, eyes, and brain get worst damage — hepatomegaly, cataracts, loss of nerve cells, gliosis, brainstem edema

Others: FTT, vomiting, diarrhea within a few days of milk ingestion, persistent jaundice, mental retardation within 6-12 mos, aminoaciduria, E coli septicemia, hemolysis, and coagulopathy

26
Q

Inheritance of PKU and galactosemia

A

AR

27
Q

Inheritance of CF

A

AR

28
Q

CF is associated with what other conditions that may harbor CFTR mutations?

A

Idiopathic chronic pancreatitis
Late-onset chronic pulmonary disease
Idiopathic bronchiectasis
Obstructive azoospermia

29
Q

Changes in airway vs. sweat cell transport in CF

A

Airway: ENaC activity increases, markedly augmenting Na uptake across apical membrane

Sweat glands: ENaC activity decreases, producing salty sweat

30
Q

Result of possibly abnormal bicarbonate conductance in CF

A

Decreased luminal pH —> pancreatic insufficiency

31
Q

Congenital absence of vas deferens is associated with what condition?

A

CF

32
Q

Clinical features of CF

A

Chronic lung disease secondary to recurrent infections (common agent is pseudomonas aeruginosa —> lower lungs) and recurrent sinonasal polyps

Pancreatic insufficiency (results in ADEK deficiency and edema)

Steatorrhea and hepatic cirrhosis

Malnutrition characterized by large, foul smelling stools, abdominal distension, and poor weight gain

Intestinal obstruction (meconium ileus), polyposis

Male infertility

33
Q

Morphological findings in SIDS cases

A

Multiple petechiae

Congested lungs with vascular engorgement +/- pulmonary edema

Astrogliosis of brainstem and cerebellum

Persistent hepatic extramedullary hematopoiesis and periadrenal brown fat

34
Q

Delineate heterotopia from hamartoma

A

Heterotopia (choristoma): microscopically normal cells or tissues that are present in abnormal locations

Hamartoma: excessive focal overgrowth of cells and tissues native to the area in which it occurs

35
Q

2 types of lymphatic tumors of childhood

A

Lymphangiomas: hamartomatous or neoplasic; characterized by cystic and cavernous spaces, tend to increase in size after birth

Lymphangiectasis: represent abnormal dilations of preexisting lymph channels, usually presents as diffuse swelling of part or all of an extremity

36
Q

2 types of fibrous tumors seen in childhood

A

Fibromatosis: sparsely cellular proliferations of spindle-shaped cells

Congenital-infantile fibrosarcomas: richly cellular lesions indistinguishable from fibrosarcomas in adults

37
Q

Characteristic chromosomal translocation associated with congenital-infantile fibrosarcomas

A

t(12;15)(p13;q25) - results in generation of ETV6-NTRK3 fusion transcript

38
Q

Sites of involvement for neuroblastic tumors

A

Sympathetic ganglia

Adrenal medulla

39
Q

Morphologic features of neuroblastic tumors

A

Presence of neuropil on histology, as well as Homer Wright pseudorosettes

Presence of ganglion cells + primitive neuroblasts = ganglioneuroblastoma

Presence of ganglion cells without neuroblasts = ganglioneuroma

40
Q

Clinical course of neuroblastic tumors

A

Large abdominal masses, fever, possibly weight loss

Metastasize widely — liver, lungs, bones, bone marrow, periorbital region, skin “blueberry muffin baby”

Production of catecholamines = important diagnostic feature is VMA and HVA

41
Q

Favorable prognostic factors for neuroblastic tumors

A 
Stage 1, 2A, 2B, 4S
Age <18 mos
Presence of schwannian stroma and gangliocytic differentiation
Low mitosis-karyorrhexis index
Hyperdiploid (whole chromosome gains)
No amplification of MYCN
No loss of Chr 1p or 11q
Presence of TRKA expression
No TRKB expression or mutations of neuritogenesis genes
42
Q

3 groups/types of Wilms tumor and their identifying feature(s)

A
  1. WAGR syndrome - WT1 deletion, aniridia, genital anomalies, mental retardation
  2. Denys-Drash syndrome - gonadal dysgenesis, renal failure, risk of gonadoblastoma, precursors are nephrogenic rests; missense mutation in WT1
  3. Beckwith-Wiedmann syndrome - organomegaly, macroglossia, hemihypertrophy, omphalocele, adrenal cytomegaly; heterogenous abnormalities in 11p15.5
43
Q

In which group of Wilms tumor is there increased risk of rhabdomyosarcoma, hepatoblastoma, pancreatoblastoma, and adrenocortical tumors?

A

Beckwith-wiedmann syndrome

44
Q

Wilms tumor, what is the difference if it is caused by germline mutations vs. sporadic mutations?

A

Germline —> bilateral masses

Sporadic —> unilateral

45
Q

Morphologic features of wilms tumor

A

Classic triphasic combo of blastemal, stromal, and epithelial cell types

Some tumors show anaplasia, usually with TP53 mutations (confers resistance to chemo)

46
Q

Clinical course of wilms tumor

A

Most present with large abdominal mass that may be unilateral or grow to extend over midline

Hematuria, abdominal pain, intestinal obstruction, HTN

Pulmonary metastases common at time of dx

MOD II Exam I (4 decks)

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