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Block 4 Quiz Flashcards

1
Q

Infant disease:

Describe the features of congenital rubella syndrome

A

Mom gets a rubella infection during the 8-10th weeks of pregnancy

Symptoms:
Cardiac defects
- Patent ductus arteriosus
- Pulmonary arterial stenosis
Eyes
- Bilateral cataracts
- Pigmented retinopathy
- Microphthalmia (small/absent eyes)
- Congenital glaucoma
Ear
- Sensorineural hearing loss
Organs/Blood/skin
- Splenomegaly
- Thrombocytopenia (blueberry muffin purpura/petechiae)
- Jaundice within 24hrs post birth
- Radiolucent bone disease

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2
Q

Mom gets a rubella infection during the 8-10th weeks of pregnancy

Symptoms:
Cardiac defects
- Patent ductus arteriosus
- Pulmonary arterial stenosis
Eyes
- Bilateral cataracts
- Pigmented retinopathy
- Microphthalmia (small/absent eyes)
- Congenital glaucoma
Ear
- Sensorineural hearing loss
Organs/Blood/skin
- Splenomegaly
- Thrombocytopenia (blueberry muffin purpura/petechiae)
- Jaundice within 24hrs post birth
- Radiolucent bone disease

A

Describe the features of congenital rubella syndrome

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3
Q

Infant disease:

Which two periods during development puts the developing fetus at higher risk of teratogenic effects

A

1) Embryonic period (9wks) during organogenesis

2) Fetal period-to-birth (organ growth)

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4
Q

Infant disease:

Which period is a developing fetus most protected from teratogenic effects?

A

As a blastocyst (first 2 wks post fertilization)

Monitor instead of abortion

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5
Q

Congenital rubella has the worst teratogenic effects during ____ trimester?

A

1st

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6
Q

CMV has the worst teratogenic effects during ____ trimester?

A

2nd

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7
Q

Describe a malformation

A

Due to genetics, morphological errors where intrinsically abnormal development takes place (aka abnormal from the start)

ex. Congenital heart defects, anencephaly, down syndrome, patau syndrome etc

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8
Q

Due to genetics, morphological errors where intrinsically abnormal development takes place (aka abnormal from the start)

ex. Congenital heart defects, anencephaly, down syndrome, patau syndrome etc

Are described as

A

Malformations

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9
Q

Describe Disruptions

A

Secondary destruction of an organ/region that was developing normally at first (aka an extrinsic disturbance in morphogenesis meaning it’s NOT heritable)

ex. amniotic band constriction

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10
Q

Secondary destruction of an organ/region that was developing normally at first (aka an extrinsic disturbance in morphogenesis meaning it’s NOT heritable)

ex. amniotic band constriction

Are an example of

A

Disruption

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11
Q

Describe Deformation

A

When mechanical forces cause normally developing organs/regions to become deformed (NOT heritable)

ex Uterine constraint

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12
Q

Uterine constraint typically happens during weeks 35-38 when the fetus’ growth outpaces the uterus’ growth. It can rupture prematurely and deform the fetus

This is an example of

A

Deformity

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13
Q

What are the maternal & fetal risk factors for developing uterine constraint?

A

maternal:
- 1st pregnancy
- small/malformed (bicornuate) uterus
- uterine leiomyomas

Fetal:
- Oligohydramnios
- Multiple fetuses

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14
Q

Describe a sequence

A

When multiple anomalies happen together to disrupt organogenesis (i.e malformation, deformations & disruption etc)

Ex. Premature amnion rupture causes oligohydramnios (deformation) & Potter sequence (deformation + disruption)

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15
Q

When multiple anomalies happen together to disrupt organogenesis (i.e malformation, deformations & disruption etc)

Ex. Premature amnion rupture causes oligohydramnios (deformation) & Potter sequence (deformation + disruption)

Are examples of a

A

Sequence

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16
Q

List the features seen in potter- sequence

A

oligohydramnios (cause)
- Flattened facies
- Nodules in placenta
- Hypoplastic lungs
- Dislocated hips
- Hand/feet positional anomalies

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17
Q

oligohydramnios (cause)
- Flattened facies
- Nodules in placenta
- Hypoplastic lungs
- Dislocated hips
- Hand/feet positional anomalies

A

Features of Potter sequence

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18
Q

What are the 3 hallmarks of preeclampsia?

A

1) Fetal edema
2) Hyponatremia
3) Hypertension

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19
Q

Describe the pathology of fetal alcohol syndrome

A

When mom drinks alcohol, ethanol passes into baby via the umbilical cord. Baby doesn’t have the liver enzymes needed to break it down so it accumulated and disrupts cell growth/proliferation/migration

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20
Q

Describe the clinically diagnostic symptoms of FAS (growth, CNS, dysmorphia)

A

3 from each category are needed:

Growth:
- Low weight/weight
CNS:
- Microcephaly
- Intellectual disability
Dysmorphic facial features:
- Small palpebral fissue
- Smooth philtrum
- Thin vermillion (lips)

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21
Q

Describe the additional findings in of FAS (not the big 3 categories)
Heart, Bone, Kidney, Eye, Ear, & Hands

A

Cardiac:
- Atrial Septal/Ventricular Septal defect
- Aberrant great vessels
Skeletal:
- Radioulnar synostosis
Renal:
- Aplastic, hypoplastic, dysplastic, or horseshoe kidneys
Eyes:
- Optic nerve hypoplasia
Ears:
- Conductive/neurosensory hearing loss
Minor: Hockey stick palmar crease

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22
Q

3 from each category are needed:

Growth:
- Low weight/weight
CNS:
- Microcephaly
- Intellectual disability
Dysmorphic facial features:
- Small palpebral fissue
- Smooth philtrum
- Thin vermillion (lips)

Describe which condition?

A

Fetal alcohol syndrome

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23
Q

Cardiac:
- Atrial Septal/Ventricular Septal defect
- Aberrant great vessels
Skeletal:
- Radioulnar synostosis
Renal:
- Aplastic, hypoplastic, dysplastic, or horseshoe kidneys
Eyes:
- Optic nerve hypoplasia
Ears:
- Conductive/neurosensory hearing loss
Minor: Hockey stick palmar crease

Indicate which syndrome?

A

Fetal alcohol syndrome

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24
Q

These are all examples of which type of congenital defect?

A

Malformation

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25
Q

This is an example of which type of congenital defect?

A

Disruption

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26
Q

This is an example of which type of congenital defect?

A

Disruption

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27
Q

This is an example of which type of congenital defect?

A

Deformation

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28
Q

This is an example of which type of congenital defect?

A

Sequence

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29
Q

Describe the features (path/signs) of shaken baby syndrome (Abusive head trauma)

A

When baby is shook, the bridging veins & superficial cerebral veins tear/rupture. Onset of symptoms ~2-3 days (but it can asymptomatic), diagnosis is confirmed with CT/MRI

Key signs:
- Bilateral retinal hemorrhaging (pan retinol hemorrhaging)
- Subdural hemorrhages

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30
Q

the bridging veins & superficial cerebral veins tear/rupture. Onset of symptoms ~2-3 days (but it can asymptomatic), diagnosis is confirmed with CT/MRI

Key signs:
- Bilateral retinal hemorrhaging (pan retinol hemorrhaging)
- Subdural hemorrhages

A

shaken baby syndrome (Abusive head trauma)

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31
Q

Explain what SIDS (Suden infant death synd) is?

A

Happens before 1yrs old, peak age between 2-4 months during 12am-8am
&
DEATH can’t be explained

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32
Q

What are the warning signs of SIDS?

A

1) Peripheral bleeding
- Petechiae hemorrhaging on the thymus, visceral/parietal pleural, epicardium

2) Vascular congestion
- Lung congestion/enlargement
- Pulmonary edema

3) Brainstem + cerebellum
- Astrogliosis in BS & cerebellum
- Hypoplastic arcuate nucleus

4) Extramedullary hematopoiesis
- Hepatic extramedullary hematopoietic stress & periadrenal brown fat

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33
Q

1) Peripheral bleeding
- Petechiae hemorrhaging on the thymus, visceral/parietal pleural, epicardium

2) Vascular congestion
- Lung congestion/enlargement
- Pulmonary edema

3) Brainstem + cerebellum
- Astrogliosis in BS & cerebellum
- Hypoplastic arcuate nucleus

4) Extramedullary hematopoiesis
- Hepatic extramedullary hematopoietic stress & periadrenal brown fat

Are warning signs of what condition?

A

SIDS!

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34
Q

What are some infantile risks for developing SIDS?

A

1) A prone sleeping position
2) Premature birth (low weight)
3) Recent infection
4) Brainstem hypoplasia

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35
Q

1) A prone sleeping position
2) Premature birth (low weight)
3) Recent infection
4) Brainstem hypoplasia

Are infantile risk factors for which condition?

A

SIDS

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36
Q

What are some maternal risks for developing SIDS?

A

1) High parity (multiple preggos)
2) Tobacco or drug use
3) Crowded living conditions
4) Young maternal age

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37
Q

1) High parity (multiple preggos)
2) Tobacco or drug use
3) Crowded living conditions
4) Young maternal age

Maternal risk factors for which condition?

A

SIDS

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38
Q

How does brainstem hypoplasia raise risk of SIDS?

A

1) Hypoplastic brainstem reduces respiratory control causing hypoxia,
2) which triggers more extramedullary haemogenesis
3) Causes EPO hyperplasia increasing SIDS risk

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39
Q

Describe the features of Fetal Hydrops

A

Edema in fetus during development that can be due to an:
1) immune reaction (hemolytic anemia from Rh or ABO incompatibility)
Or
2) non-immune (hemolytic anemia from other causes)

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40
Q

Edema in fetus during development that can be due to an:
1) immune reaction (hemolytic anemia from Rh or ABO incompatibility)
Or
2) non-immune (hemolytic anemia from other causes)

Describes which condition

A

Fetal Hydrops

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41
Q

Describe how Rh incompatibility leads to fetal hydrops

A

REQUIRES SENSITIZATION

1st Preggo:
Rh(-) mom + Rh(+) = Rh(+) baby & anti IgM ab (don’t cross placenta)

2nd Preggo:
Rh(-) mom + Rh(+) = Rh(+) baby & anti-IgG ab (crosses placenta) attacking baby

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42
Q

REQUIRES SENSITIZATION

1st Preggo:
Rh(-) mom + Rh(+) = Rh(+) baby & anti IgM ab (don’t cross placenta)

2nd Preggo:
Rh(-) mom + Rh(+) = Rh(+) baby & anti-IgG ab (crosses placenta) attacking baby

Describes what condition?

A

Immune fetal hydrops due to Rh incompatibility

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43
Q

Describe how ABO incompatibility leads to fetal hydrops

A

ABO Hemolytic disease targets type A or B infants with type O moms with IgG abs against type A/B blood of the baby it affects 1st & subsequent pregnancies

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44
Q

ABO Hemolytic disease targets type A or B infants with type O moms with IgG abs against type A/B blood of the baby it affects 1st & subsequent pregnancies

Describes which condition?

A

incompatibility leads to fetal hydrops

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45
Q

Describe the symptoms of immune-mediated fetal hydrops

A

Hemolytic anemia
Jaundice
Generalized edema
Anasarca
Kernicterus

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46
Q

Describe the symptoms of non-immune-mediated fetal hydrops

A

Hemolytic anemia
No jaundice
Normal Hb
Ventricular septal defect
Intrauterine heart failure
Fetal anemia (a-thalassemia)

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47
Q

Risk factors of non-immune fetal hydrops

A

Chromosomal abnormalities
- Turner (45X)
- Down synd (XXX21)
- Edwards (XXX18)
Viral infection (parvoB19)

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48
Q

Hemolytic anemia
No jaundice
Normal Hb
Ventricular septal defect
Intrauterine heart failure
Fetal anemia (a-thalassemia)

Symptoms of which condition?

A

Non-immune fetal hydrops

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49
Q

What is a complication of Turner syndrome?

A

Cystic hygroma (abnormal lymph drainage)

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50
Q

Describe the features of fetal hydrops and fetal anemia

A

1) fetus & placenta are pale (except for parvoB19 infection)
2) Hepatosplenomegaly (HF)
3) Bone marrow erythroid hyperplasia (not in parvoB19)
4) Extramedullary hematopoiesis (liver, spleen, LN, kidneys, lungs, & heart)
5) Erythroblastosis fetalis (more reticulocytotic, normoblast, & erythroblasts)
6) Kernicterus (enlarged/yellow from bilirubin in the basal ganglia, thalamus, cerebellum, & spinal cord)

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51
Q

1) fetus & placenta are pale (except for parvoB19 infection)
2) Hepatosplenomegaly (HF)
3) Bone marrow erythroid hyperplasia (not in parvoB19)
4) Extramedullary hematopoiesis (liver, spleen, LN, kidneys, lungs, & heart)
5) Erythroblastosis fetalis (more reticulocytotic, normoblast, & erythroblasts)
6) Kernicterus (enlarged/yellow from bilirubin in the basal ganglia, thalamus, cerebellum, & spinal cord)

Describes features of which condition

A

fetal hydrops and fetal anemia

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52
Q

How do you treat jaundice in immune fetal hydrops

A

UV/Sunlight exposure

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53
Q

What does this histo slide show & what’s the condition?

A

1) Bone marrow from an infant infected with parvovirus B19 causing fetal hydrops

2) The arrows showing erythroid precursors with large homogeneous intranuclear inclusions and a surrounding peripheral rim of residual chromatin

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54
Q

Describe the pathology (not symptoms) of neuroblastomas

A

Onset before 4yrs, peak age ~2yrs

Made from neural crest cells & develop in the adrenal glands (also anywhere on the sympathetic ganglion). Tumors typically present with an abdominal mass that crosses the midline

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55
Q

Onset before 4yrs, peak age ~2yrs

Made from neural crest cells & develop in the adrenal glands (also anywhere on the sympathetic ganglion). Tumors typically present with an abdominal mass that crosses the midline

Describe the pathology of which condition?

A

Neuroblastoma

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56
Q

Describe the symptoms of a neuroblastoma that metastasizes to bone (sphenoid +periorbital tissue)

A

Periorbital ecchymosis (racoon eyes)

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57
Q

Describe the symptoms of a neuroblastoma that metastasizes to Paraspinal ganglion

A

compressed spinal cord causing muscle weakness & sensory changes

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58
Q

Neuroblastomas are linked to genetic mutations in which oncogenes?

A

MYC-N (increases Cyclin D & E)
&
ALK gene

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59
Q

Neuroblastomas are linked to genetic mutations in which Tumor suppressor genes?

A

PHOX2B gene
&
Chromosomes X1 & X11

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60
Q

What is a sign of a neuroblastoma that indicates a favorable prognosis?

A

Younger age of onset (before 18months)

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61
Q

Describe some paraneoplastic signs of neuroblastomas

A

1) Opsoclonus myoclonus (dancing eyes & feet)
&
2) Chronic watery diarrhea

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62
Q

What are the signs of a disseminated neuroblastoma?

A

cutaneous metastases (blueberry muffin spots)

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63
Q

Lab values for a neuroblastoma

A

Increased vanillylmandelic acid (VMA)
&
Increased Homovanillic acid (HVA)

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64
Q

Describe the histological findings of a neuroblastoma

A

small dark nuclei with scant cytoplasm & poorly defined cell borders

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65
Q

Describe the histo slide

A

Poorly defined neuroblastoma with neuropil (Homer-Wright pseudo-rosettes)

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66
Q

Describe the etiology of a Wilms tumor & its associated conditions

A

A nephroblastoma, onset ~2-5yrs the bilateral tumors in boys present the earliest

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67
Q

Describe the classic combo of the WILMS tumor

A

1) Epithelial cells (sheets of small blue cells)
2) Blastemal cells (abortive tubules & glomeruli)
3) Stromal cells (fibrocystic or myxoid type)

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68
Q

1) Epithelial cells (sheets of small blue cells)
2) Blastemal cells (abortive tubules & glomeruli)
3) Stromal cells (fibrocystic or myxoid type)

A

classic combo of the WILMS tumor

69
Q

Describe the typical presentation of a child with WILMs tumor

A

1) Enlarged abdomen or asymptomatic mass (well-defined & can extend into the pelvis)
2) Hypertension (25%)
3) Microscopic hematuria (25%)

70
Q

Describe the risk of developing WILMS tumor genetic vs sporadic

A

97% of cases = sporadic

3% of cases = germline mutations, which tend to have earlier onset & be bilateral
- WAGR syndrome
- Beck-Weidemann syndrome
- Denys-Darsh syndrome

71
Q

Describe the features of WAGR syndrome

A

A progression of WILMs tumor with WT1 & 11p13 deletion (1st hit) & nonsense/frameshift mutation in 2nd WT1 allele (2nd hit)

Symptoms:
- Aniridia (no iris)
- Gonadogenesis (pseudo hermaphroditism
- Nephrogenesis

72
Q

Describe the features of Beck-Wiedemann syndrome

A

Genomic imprinting leads to the maternal allele NOT being silenced causing organs/body parts to enlarge (organomegaly) the affected region being WT2 (11p15.5)

Symptoms:
- Macroglossia
- Organomegaly
- Hyperinsulinemia + Hypoglycemia
- Omphalocele
- Adrenal cytomegaly (abnormally big cells in adrenals)

73
Q

Describe the features of Denys-Darsh syndrome

A

A DOM-Neg missense mutation in zinc finger region of WT1 & germline mutations of WT1 gene. The tumors show bi-allelic inactivation of WT1 and increased risk of gonadoblastomas

Symptoms:
- Gonadal dysgenesis (male pseudo-Hermaphroditism)
- Diffuse mesangial sclerosis
- Increased risk of gonadoblastomas

74
Q

A progression of WILMs tumor with WT1 & 11p13 deletion (1st hit) & nonsense/frameshift mutation in 2nd WT1 allele (2nd hit)

Symptoms:
- Aniridia (no iris)
- Gonadogenesis (pseudo hermaphroditism
- Nephrogenesis

Describes which condition?

A

WAGR syndrome associated with WILMS tumor

75
Q

A DOM-Neg missense mutation in zinc finger region of WT1 & germline mutations of WT1 gene. The tumors show bi-allelic inactivation of WT1 and increased risk of gonadoblastomas

Symptoms:
- Gonadal dysgenesis (male pseudo-Hermaphroditism)
- Diffuse mesangial sclerosis
- Increased risk of gonadoblastomas

Describes which condition?

A

Denys-Darsh syndrome

76
Q

Genomic imprinting leads to the maternal allele NOT being silenced causing organs/body parts to enlarge (organomegaly) the affected region being WT2 (11p15.5)

Symptoms:
- Macroglossia
- Organomegaly
- Hyperinsulinemia + Hypoglycemia
- Omphalocele
- Adrenal cytomegaly (abnormally big cells in adrenals)

Describes which condition?

A

Beckwith-Wiedemann syndrome ass with WILM tumor

77
Q

What are kids with Beckwith-Weidmann syndrome at a greater risk of developing?

A
  • Hepatoblastoma
  • Pancreatoblastoma
  • Adrenocortical tumors
  • Rhabdomyosarcoma
78
Q

Describe the pathology of Amyloidosis

A

Accumulation of extracellular deposits of fibrillary proteins causing pressure & atrophy on surrounding cells.

79
Q

Amyloid deposits are made up of what?

A

The deposits are made up of:
- Proteoglycans
- Glycosaminoglycans
- Heparan sulfate
- Dermatan sulfate
- Plasma proteins
- Serum amyloid precursor (SAP)

80
Q

Amyloid forms: HLA-B27

A

HLA-B27: Ankylosing spondylitis; seen in males mostly

81
Q

Amyloid forms: HLA-DR4

A

HLA-DR4: Rheumatoid arthritis; seen in females mostly

82
Q

Amyloid forms: PTPN22:

A

PTPN22: Rheumatoid arthritis and Type I Diabetes

83
Q

Amyloid forms: NOD2:

A

NOD2: Crohn disease (Defect in gene causes paneth cells unable to make antibodies)

84
Q

Amyloid forms: TBX1 -

A

TBX1 - Thymic hypoplasia/ DiGeorge Syndrome
WASP - Wiskott-Aldrich Syndrome Protein

85
Q

Amyloid forms: WASP

A

WASP - Wiskott-Aldrich Syndrome Protein

86
Q

Amyloid forms: Ankylosing spondylitis; seen in males mostly

A

HLA-B27:

87
Q

Amyloid forms: Rheumatoid arthritis; seen in females mostly

A

HLA-DR4:

88
Q

Amyloid form: Rheumatoid arthritis and Type I Diabetes

A

PTPN22:

89
Q

Amyloid form: Crohn disease (Defect in gene causes paneth cells unable to make antibodies)

A

NOD2:

90
Q

Amyloid form: Thymic hypoplasia/ DiGeorge Syndrome
WASP - Wiskott-Aldrich Syndrome Protein

A

TBX1 -

91
Q

Amyloid form: Wiskott-Aldrich Syndrome Protein

A

WASP -

92
Q

Amyloids are seen as

A

amorphous, eosinophilic, hyaline, extracellular substance.
Stain: Congo red
Green birefringence under polarized microscopy.

93
Q

Amyloid types:

Describe primary amyloidosis

A

1) Mostly AL (light chains), few k chains, & IgG chains in plasma cells

94
Q

AL (light chains) is associated with which conditions?

A

Multiple myeloma

95
Q

Increased lambda chains indicates which condition

A

Bence Jones protein (light chains in urine)

96
Q

Amyloid types:

Describe reactive systemic amyloidosis

A

AA (amyloid associated proteins) made from non-Ig proteins in the liver derived from SAA which bind to high-density lipoproteins are associated with Chronic inflammation:
- Inflammatory Bowel Disease
- Rheumatoid arthritis
- Systemic Lupus Erythematous
- HLA:B27

97
Q

Amyloid forms:

HLA:B27

A

Reactive systemic amyloidosis
- Inflammatory Bowel Disease
- Rheumatoid arthritis
- Systemic Lupus Erythematous

98
Q

AA amyloid protein accumulation stimulates

A

IL6 & IL1

Associated with:
- Heroin abuse
- Ulcerative colitis
- Ankylosis spondylitis
- Crohns

99
Q

Describe the features of Hereditary familial amyloidosis

A

AUTO REC, aka familial mediterranean fever. A Pyrin gene (which regulates inflammatory response) causes excessive IL-2 causing:
- Fever
- Cardiac myopathy
- Exertional dyspnea

Associated with accumulated AA amyloid protein

100
Q

AUTO REC, aka familial mediterranean fever. A Pyrin gene (which regulates inflammatory response) causes excessive IL-2 causing:
- Fever
- Cardiac myopathy
- Exertional dyspnea

Associated with accumulated AA amyloid protein

Describes which condition?

A

Hereditary familial amyloidosis

101
Q

Describe the features of B-amyloid (AB) amyloid protein

A

It forms cerebral plaques & deposits in cerebral blood vessels

Associated with:
- Alzheimer’s
- Diabetes mellitus
- Endocrine amyloid
- Down syndrome

102
Q

Localized amyloidosis:

Describe endocrine amyloid tumors

A

Increased AB amyloid in endocrine tumors, which cause a decrease in parathyroid serum due to tumor induced hypercalcemia

On Congo red stain with green birefringent

ex. Medullary carcinoma of thyroid, islet tumors of pancreas, pheochromocytomas, & undifferentiated carcinoma of stomach in type 2 DM

103
Q

Localized amyloidosis:

Describe amyloidosis in Alzheimer’s disease

A

Accumulation of B-amyloids cleaved by amyloid polypeptide proteins causing plaques

104
Q

Localized amyloidosis:

Describe Islet amyloid polypeptide (IAPP)

A

Deposition of amylin in the pancreatic islets seen in type 2 diabetes mellitus, increases as we get older treat with insulin

105
Q

Amyloidosis:

Describe Transthyretin associated amyloidosis

A

It normally binds & transports retinol & thyroxine,
Mutations can cause familial amyloid polyneuropathy (pleomorphic) or Normal senile aging causes TTR deposits in the heart (senile systemic amyloidosis wild type)

106
Q

Describe Senile Systemic amyloidosis

A

Deposits of TTR over time lead to Cardiomyopathy & Arrythmias

107
Q

Histological representation of Senile Systemic Amyloidosis will always show

A

Extracellular deposits between cells adjacent to the basement membrane

108
Q

Common perivascular & vascular TTR deposits in the kidney leads to

A

1) Deposits in the glomeruli, interstitial peritubular tissue, arteries, & arterioles
2) Glomerular deposits (thickening mesangial matrix)
3) Mesangial deposition (in basement membrane = ischemia)

109
Q

1) Deposits in the glomeruli, interstitial peritubular tissue, arteries, & arterioles
2) Glomerular deposits (thickening mesangial matrix)
3) Mesangial deposition (in basement membrane = ischemia)

Results of which type of amyloidosis

A

Common perivascular & vascular TTR deposits in the kidney leads to

110
Q

Common perivascular & vascular TTR deposits in the liver leads to

A

TTR deposits into the space of Disse (Perisinusoidal space) between the hepatocyte and a sinusoid, & Kupfer cells which causes:
- pressure atrophy & disappearance of hepatocytes

111
Q

TTR deposits into the space of Disse (Perisinusoidal space) between the hepatocyte and a sinusoid, & Kupfer cells which causes:
- pressure atrophy & disappearance of hepatocytes

Results of which type of amyloidosis

A

Common perivascular & vascular TTR deposits in the Liver leads to

112
Q

Common perivascular & vascular TTR deposits in the heart leads to

A

Starts as TTR deposits in the sub endocardium causing:
- pressure atrophy of myocardial fibers
- Conduction system abnormalities

113
Q

Starts as TTR deposits in the sub endocardium causing:
- pressure atrophy of myocardial fibers
- Conduction system abnormalities

Results of which type of amyloidosis

A

Common perivascular & vascular TTR deposits in the heart

114
Q

Describe Hemodialysis associated amyloidosis

A

accumulation of B2-microglobulin appears in long-term hemodialysis, it’s associated with carpal tunnel syndrome

115
Q

accumulation of B2-microglobulin appears in long-term hemodialysis, it’s associated with carpal tunnel syndrome

Is known as which type of amyloidosis

A

Hemodialysis associated amyloidosis

116
Q

Describe the 2 categories of amyloidosis

A

1) normal proteins which have a tendency to misfold (increase amyloid #)

2) Mutant proteins that are prone to misfolding (increased aggregation of amyloid)

117
Q

What are the 2 main theories about the cause of amyloidosis?

A

1) Enzyme defect
2) SAA are resistant to degradation (genetics)

118
Q

Amorphous, hyaline, extracellular, non-branching, cross-B pleated sheets that on congo red stain show as green-birefringent under polarized light

A

Amyloid proteins

119
Q

Describe the histological features of amyloids

A

Amorphous, hyaline, extracellular, non-branching, cross-B pleated sheets that on Congo red stain show as green-birefringent under polarized light

120
Q

A 44-year-old man is brought to the physician by his father. Over the past year, the patient has become progressively forgetful and withdrawn. He frequently has trouble remembering names of acquaintances, and has been requiring increasing amounts of assistance with getting dressed, cooking, and personal hygiene. He was diagnosed with a genetic disorder during infancy. Physical examination shows prominent epicanthal folds, low-set small ears, and a protruding tongue. Mental examination shows significant deficits in short- and long-term memory. This patient’s cognitive symptoms are most likely the result of which of the following neuropathologic changes?

Intracellular aggregations of alpha-synuclein
B
Multifocal deposition of excess copper
C
Synaptic build-up of abnormal prion protein
D
Cytoplasmic inclusions of ubiquinated TDP-43
E
Extracellular accumulation of amyloid plaques

A

E
Extracellular accumulation of amyloid plaques

121
Q

A previously healthy 82-year-old man dies in a motor vehicle collision. At autopsy, the heart shows slight ventricular thickening. There are abnormal, insoluble aggregations of protein filaments in beta-pleated linear sheets in the ventricular walls and, to a lesser degree, in the atria and lungs. No other organs show this abnormality. Bone marrow examination shows no plasma cell dyscrasia. The abnormal protein aggregations are most likely composed of which of the following?

Beta-2 microglobulin
B
Natriuretic peptide
C
Normal transthyretin
D
Immunoglobulin light chain
E
Serum amyloid A
F
β-amyloid peptide

A

C
Normal transthyretin

122
Q

A 7-day-old female newborn is brought to the physician because of lethargy, vomiting, poor feeding, and diarrhea for 4 days. She was born at 39 weeks’ gestation. Vital signs are within normal limits. Bilateral cataracts and icterus are present. Examination shows jaundice of the skin, and the liver is palpated 5-cm below the right costal margin. Muscle tone is decreased in all extremities. Serum glucose concentration is 40 mg/dL. Which of the following metabolites is most likely to be increased in this patient?

Sphingomyelin
B
Uric acid
C
Branched-chain amino acids
D
Galactose-1-phosphate
E
Limit dextrins

A

D
Galactose-1-phosphate

123
Q

A 31-year-old man comes to the emergency department for acute tearing chest pain that radiates to the back. Despite appropriate therapy, the patient dies. Autopsy shows an increase in mucoid extracellular matrix and loss of smooth muscle cell nuclei in the media of large arteries. Which of the following additional findings is most likely in this patient?

Nasal septum perforation
B
Inferonasal lens dislocation
C
Pes cavus with hammer toes
D
Polycystic kidneys
E
Pectus carinatum
F
Condylomata lata

A

E
Pectus carinatum

124
Q
A

Downs syndrome

125
Q
A

Downs syndrome A) Acute leukemia

126
Q

A 4-year-old boy is brought to the physician because of frequent respiratory tract infections and chronic diarrhea. His stools are bulky and greasy, and he has around 8 bowel movements daily. He is at the 10th percentile for height and 25th percentile for weight. Chest examination shows intercostal retractions along with diffuse wheezing and expiratory rhonchi. Which of the following is the most likely cause of his condition?

Increased frequency of trinucleotide repeats
B
Defective ciliary protein function
C
Intracellular retention of misfolded proteins
D
Altered configuration of a protease inhibitor
E
Frameshift mutation of muscle-anchoring proteins

A

C
Intracellular retention of misfolded proteins

127
Q

A 68-year-old man has had chronic arthritis for the past 15 years visited ER due to swelling of the feet and the face. History of exertional dyspnea is present. He was diagnosed as rheumatoid arthritis 15 years ago and taking methotrexate for it. On physical examination, he has ulnar deviation with swan neck deformities of the fingers. Blood studies showed abnormal renal functional tests. A renal biopsy showed deposition of amorphous material in the glomerular basement membrane stains red with Congo red stain. Which of the following is the most likely cause for his renal condition?
A) β-amyloid amyloidosis
B) β2-Microglobulin associated amyloidosis
C) Light chain associated amyloidosis
D) Transthyretin associated amyloidosis
E) Amyloid Associated amyloidosis

A

E) Amyloid Associated amyloidosis

128
Q

A 19-year-old primigravida gives birth to a premature male neonate who experiences severe respiratory distress. After treatment is administered the distress resolves, and by two weeks of age, the baby has adequate respiratory function. Abnormal retinal vascularization that extends into the vitreous is discovered on ophthalmic examination. The retinal findings in this patient are most likely related to which of the following?

A) Maternal terbutaline treatment
B) Maternal corticosteroid therapy
C) Neonatal antibiotic treatment
D) Neonatal oxygen supplementation
E) Neonatal surfactant supplementation

A

D) Neonatal oxygen supplementation

129
Q

A 19-year-old female brings her 8-month-old child due to a fall from the bed while she was doing some work in the kitchen. She told the physician she loves the child very much and she cannot live without him. On examination, infant is hypoactive and has bulging fontanelle. Bilateral retinal hemorrhages are seen on funduscopic examination. Which of the following should be strongly suspected in this patient?
A) Skull fracture
B) Congenital coagulation abnormality
C) Osteogenesis imperfecta
D) Idiopathic thrombocytopenic purpura
E) Shaken baby syndrome

A

E) Shaken baby syndrome

130
Q

A 30-year-old woman, gravida 2, para 0, abortion 1, at 28 weeks’ gestation comes to the office for a prenatal visit. She has had one previous pregnancy resulting in a spontaneous abortion at 12 weeks’ gestation. Today, her vital signs are within normal limits. Physical examination shows a uterus consistent in size with a 28-week gestation. Fetal ultrasonography shows a male fetus with no abnormalities. Her blood group is O, Rh-negative. The father’s blood group is B, Rh-positive. The physician recommends administration of Rho(D) immune globulin to the patient. This treatment is most likely to prevent which of the following in this mother?
A) Development of natural killer cells
B) Development of polycythemia
C) Formation of antibodies to RhD
D) Generation of IgM antibodies from fixing complement in the fetus
E) Immunosuppression caused by RhD on erythrocytes from the fetus

A

C) Formation of antibodies to RhD

131
Q

A 3-month-old infant bought to well-baby clinic for routine checkup. Past ante-natal
history suggestive of visited clinic only three weeks before the checkup. Mother never went for antenatal blood tests. On examination infant has bilateral cataract and murmur in the left sided pulmonary area of heart. Ophthalmoscopy exam of the eye shown below. Most likely diagnosis is?
A) Congenital cytomegalovirus syndrome
B) Marfan ’syndrome
C) Congenital rubella syndrome
D) Neonatal distress syndrome
E) Fetal Alcohol Syndrome

A

C) Congenital rubella syndrome

132
Q

A 33 weeks old neonate was admitted in neonatal ward for observation. On third day of formula feeding, neonate suddenly developed abdominal distension, vomiting and passing blood in the stools. His bowel sounds were decreased. Physician ordered X-ray of the abdomen which is show. If you take a biopsy from the arrow shown, which of the following pathological alterations do you see?
A) Ischemic necrosis of mucosal wall
B) Accumulation of air bubbles in the intestinal lumen
C) Infiltration of malignant cells
D) Dilated blood vessels
E) Hemorrhagic necrosis of mucosal wall

A

E) Hemorrhagic necrosis of mucosal wall

133
Q

An 8-year-old boy is brought to the ER due to confusion and severe vomiting. The patient’s mother tells you that the boy had fever and she gave him “some over-the-counter pills” and it helped his fever. While you talk to the mother, the boy lapses into a coma. The light microscopy of his liver specimen will reveal:
A) Apoptosis is of hepatocytes
B) Per portal inflammatory infiltration
C) Microvesicular steatosis
D) Centrilobular congestion
E) Bile duct proliferation

A

C) Microvesicular steatosis

134
Q

Describe Reye syndrome

A

Reye Syndrome occurs in children recovering from a viral infections cause liver and brain dysfunction, microvesicular steatosis is observed in liver tissue. Possible given an NSAID (aspirin)

135
Q

Secondary
amyloidosis

A

Serum Amyloid A
(AA):
Seen in chronic inflammatory
conditions, (eg, rheumatoid
arthritis, IBD, familial
Mediterranean fever, protracted
infection)

136
Q

Type 2 diabetes
mellitus amyloid

A

Islet amyloid polypeptide
(IAPP): Caused by deposition of amylin
in pancreatic islets

137
Q

Isolated atrial
amyloidosis

A

ANP: Common in normal aging
increased risk of atrial “brillation

138
Q

Systemic senile (agerelated) amyloidosis

A

Normal (wild-type)
transthyretin (TTR): Seen predominantly in cardiac
ventricles

139
Q

Familial amyloid
cardiomyopathy

A

Mutated transthyretin
(ATTR): Ventricular endomyocardium
deposition causing restrictive
cardiomyopathy, arrhythmias

140
Q

Familial amyloid
polyneuropathies

A

Mutated transthyretin
(ATTR): Due to transthyretin gene
mutation

141
Q

Neuroblastoma key take aways

A

1) onset under 4yrs old
2) Made from neural crest cells
3) presents as Normotensive, Opsoclonus-myoclonus syndrome
4) Labs: Increased HVA & VMA in urine, Homer-Wright rosettes, Bombesin & NSE +
5) Amplified MYC-N & ALK oncogenes

142
Q

Nephroblastoma/WILMS tumor key points

A

1) onset between 2-4yrs
2) Presents with large, palpable, unilateral flank mass
3) Loss-of-function mutations of WT1 & WT2 genes on X11
4) Can be appart of WAGR, DD, & BW syndromes

143
Q

WAGR syndrome key points

A

1) Wilms tumor
2) Aniridia (no iris)
3) Genitourinary malformations (gonadoblastomas)
4) Range of developmental delays

144
Q

Dens Drash syndrome key points

A

1) Wilms tumor
2) Diffuse mesangial sclerosis (early onset nephrotic synd)
3) Dysgenesis of gonads (male pseudohermaphroditism)
4) WT1 mutation

145
Q

Beckwith-Wiedemann syndrome

A

1) Wilms tumor
2) Macroglossia
3) Organomegaly
4) Hemihyperplasia (WT2 mutation)
5) Omphalocele

146
Q

Congenital heart defects associated with fetal alcohol syndrome

A

VSD/ASD
PDA
Tetralogy of fallot

147
Q

Congenital heart defects associated with Congenital rubella

A

PDA
Pulmonary artery stenosis
Septal defects

148
Q

Congenital heart defects associated with Down syndrome

A

AV septal defect (endocardial cushion defect)
VSD/ASD

149
Q

Congenital heart defects associated with maternal diabetes

A

Transposition of the great vessels
VSD

150
Q

Congenital heart defects associated with marfans

A

MVP
Thoracic aortic aneurysm & Dissection
Aortic regurgitation

151
Q

Congenital heart defects associated with Turner syndrome

A

Bicuspid aortic valve
Coarctation of aorta

152
Q

Bicuspid aortic valve
Coarctation of aorta

indicate which condition

A

Congenital heart defects associated with Turner syndrome

153
Q

MVP
Thoracic aortic aneurysm & Dissection
Aortic regurgitation

Indicate which condition?

A

Congenital heart defects associated with marfans

154
Q

Transposition of the great vessels
VSD

Indicate which condition?

A

Congenital heart defects associated with maternal diabetes

155
Q

AV septal defect (endocardial cushion defect)
VSD/ASD

Indicate which condition?

A

Congenital heart defects associated with Down syndrome

156
Q

PDA
Pulmonary artery stenosis
Septal defects

Indicate which condition?

A

Congenital heart defects associated with Congenital rubella

157
Q

VSD/ASD
PDA
Tetralogy of Fallot

Indicate which condition?

A

Congenital heart defects associated with fetal alcohol syndrome

158
Q

A clinical study is performed involving male subjects
with infertility. Some of these patients are found to have bilateral agenesis of the vas deferens along with a history of recurrent respiratory tract infections, steatorrhea, and biliary cirrhosis. Genetic analysis reveals polymorphisms of mannose-binding lectin 2 (MBL2) and transforming growth factor β-1 (TGFβ-1) genes. An abnormality involving which of the following laboratory tests is most likely to be found in these
infertile men?
(A) Hemoglobin A1c
(B) Leukocyte galactose-1-phosphate uridyl transferase
(GALT)
(C) Serum phenylalanine
(D) Sweat chloride
(E) Urine vanillylmandelic acid (VMA)

A

(D) Sweat chloride

159
Q

Neurotransmitter associated with SIDS?

A

Serotonin (BS)

160
Q

A healthy, 44-year-old G2, P1 woman has a screening
ultrasound at 18 weeks’ gestation that shows no fetal anomalies. There is decreased fetal movement at 32 weeks’ gestation,
and ultrasound shows fetal growth restriction with relative
sparing of the fetal head. The placenta appears normally positioned in the lateral fundus, but appears small, and the amniotic fluid index is reduced. Maternal blood pressure is normal.
Which of the following conditions is most likely to be
present?
(A) Confined placental mosaicism
(B) Congenital Treponema pallidum infection
(C) Galactosemia
(D) Preeclampsia
(E) Rh incompatibility
(F) Trisomy 21

A

(A) Confined placental mosaicism

161
Q

16-year-old primigravida in her 18th week of pregnancy has not felt any fetal movement, and an ultrasound is
performed. The amniotic fluid index is markedly decreased.
Both fetal kidneys are cystic, and one is larger than the other.
There is no fetal cardiac activity. The pregnancy is terminated,
and a fetal autopsy is performed. Findings include multicystic
renal dysplasia, hemivertebra, anal atresia, tracheoesophageal
fistula, and lungs that are equivalent in size to 14 weeks’ gestation. Which of the following errors in morphogenesis best
accounts for the mechanism for the appearance of the lungs?
! (A) Agenesis
! (B) Aplasia
! (C) Deformation
! (D) Disruption
! (E) Malformation
! (F) Teratogenesis

A

! (C) Deformation

162
Q

A 31-year-old woman, G3, P2, has had an uneventful
pregnancy except for lack of any fetal movement. She has a
spontaneous abortion at 20 weeks’ gestation and delivers a
stillborn boy. On examination at birth, the infant has an
abdominal wall defect lateral to the umbilical cord insertion;
a short umbilical cord; marked vertebral scoliosis; and a thin,
fibrous band constricting the right lower extremity, which
lacks toes. None of the woman’s other pregnancies, which
ended in term births, were similarly affected. Which of the
following is the most likely cause of these findings?
! (A) Trisomy 18
! (B) Oligohydramnios
! (C) Maternal fetal Rh incompatibility
! (D) Early amnion disruption
! (E) Congenital cytomegalovirus infection

A

! (D) Early amnion disruption

163
Q

A 25-year-old woman is G5, P0, Ab4. All of her previous
pregnancies ended in spontaneous abortion in the first or
second trimester. She is now in the 16th week of her fifth
pregnancy and has had no prenatal problems. Laboratory
findings include maternal blood type of A positive, negative
serologic test for syphilis, and immunity to rubella. Which of
the following laboratory studies would be most useful for
determining a potential cause of recurrent fetal loss in this
patient?
! (A) Maternal serum α-fetoprotein determination
! (B) Genetic analysis of the CFTR gene
! (C) Maternal serologic test for HIV
! (D) Amniocentesis with chromosomal analysis
! (E) Maternal serum antibody screening

A

! (D) Amniocentesis with chromosomal analysis

164
Q

A 19-year-old primigravida who has had an uncomplicated pregnancy undergoes a screening ultrasound at 16
weeks’ gestation that shows no abnormalities. At 18 weeks, the
woman develops a mild rash on her face. She gives birth to a
stillborn, severely hydropic male infant at 33 weeks. At autopsy,
there are no congenital malformations, but cardiomegaly is
present. From the histologic appearance of the bone marrow
shown in the figure, which of the following is the most likely
cause of these findings?
! (A) Maternal IgG crossing the placenta
! (B) Chromosomal anomaly of the fetus
! (C) Congenital neuroblastoma
! (D) Inheritance of two abnormal CFTR genes
! (E) Infection with parvovirus B19

A

! (E) Infection with parvovirus B19

165
Q

A 3-year-old boy is noted to have absence of the iris
bilaterally, cryptorchidism, hypospadias, and mental retardation. His mother has noticed over the past 3 months that the
child has an enlarging abdomen. On physical examination,
there is a palpable mass. An abdominal CT scan shows bilateral adrenal enlargement and pancreatic enlargement. There
is a 6-cm solid mass in the left kidney. Which of the following
congenital disorders is the most likely diagnosis?
! (A) Edwards syndrome
! (B) Marfan syndrome
! (C) McArdle syndrome
! (D) Klinefelter syndrome
! (E) Patau syndrome
! (F) Turner syndrome
! (G) WAGR syndrome

A

! (G) WAGR syndrome

166
Q

An 18-year-old woman gives birth to a term infant after
an uncomplicated pregnancy and delivery. Over the first few
days of life, the infant becomes mildly icteric. On physical
examination, there are no morphologic abnormalities. Laboratory studies show a neonatal bilirubin concentration of
4.9 mg/dL. The direct Coombs test of the infant’s RBCs yields
a positive result. The infant’s blood type is A negative, and the
mother’s blood type is O positive. Based on these findings,
which of the following events is most likely to occur?
! (A) Kernicterus
! (B) Complete recovery
! (C) Respiratory distress syndrome
! (D) Failure to thrive
! (E) Hemolytic anemia throughout infancy

A

! (B) Complete recovery

167
Q

The mother of a 6-month-old boy notices that he has a
palpable abdominal mass. On physical examination, the infant
has a temperature of 37.8°C, and he is at the 33rd percentile
for weight. An abdominal CT scan shows a solid 5.5-cm mass
involving the right adrenal gland. Laboratory studies show
that 24-hour urine levels of homovanillic acid (HVA) and
vanillylmandelic acid (VMA) are increased. The adrenal gland
is excised surgically; the histologic appearance of the mass is
shown in the figure. Which of the following features of this
lesion is associated with a poor prognosis?
! (A) Age younger than 1 year
! (B) Hyperdiploidy
! (C) Presence of many ganglion cells
! (D) MYCN (N-MYC) gene amplification
! (E) Malformations of the kidney

A

! (D) MYCN (N-MYC) gene amplification

168
Q

A 20-year-old woman gives birth at term to an infant
weighing 1900 g. On physical examination, the infant’s head
size is normal, but the crown-heel length and foot length are
reduced. There are no external malformations. Throughout
infancy, developmental milestones are delayed. Which of the
following conditions occurring during gestation would most
likely produce these findings?
! (A) Pregnancy-induced hypertension
! (B) Down syndrome
! (C) Maternal diabetes mellitus
! (D) Congenital cytomegalovirus
! (E) Erythroblastosis fetalis

A

! (A) Pregnancy-induced hypertension

169
Q

An 18-month-old African-American boy is found dead
in his crib one morning. The distraught parents, both factory
workers, are interviewed by the medical examiner and indicate
that the child was not ill. The medical examiner finds no gross
or microscopic abnormalities at autopsy, and the results of all
toxicologic tests are negative. The medical examiner tells the
parents that although she cannot yet determine the cause of
death, she believes that sudden infant death syndrome (SIDS)
is very unlikely. This conclusion by the medical examiner is
most likely based on which of the following factors?
! (A) Sex of the child
! (B) Race of the child
! (C) Age of the child
! (D) Parental socioeconomic status
! (E) No abnormalities at autopsy

A

! (C) Age of the child

Path SJSM (26 decks)

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