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MOD > Chapter 10 > Flashcards

Chapter 10 Flashcards

1
Q

A women comes in 3 weeks pregnant for a check up. Upon examination she has no hypertension, normal healthy BMI and does not smoke. She states that she is in fact currently taking acne medication for frequent breakouts on her face but no other meds. Which of the following would be a potential concern for this patient if she continues this?

A. fetal alcohol syndrome
B. oligohydramnios
C. maternal pre-eclampsia
D. holoproscencephaly of her fetus 
E. retinoic acid embryopathy
A

E. Acne medication contains all trans retinoic acid. IN EXCESS it can be teratogenic

So child could develop embryopathy including cleft lip, CNS and craniofascial abnormalities

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2
Q

Mother delivers her child. Upon examination he child exhibits polydactyly. Otherwise the child is born with no other defects. What could explain this patterning?

A. excess all trans retinoic acid
B. mother consumed too much alchol
C. mother was taking antiepileptics
D. folic acid deficiency

A

C. Valproic acid is ANTIEPILECTIC and causes disrupted expression of HOX proteins which are implicated in patterning of limbs.

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3
Q

What teratogen causes a smooth philtrum and thin upper lip in newborns?

A

Alcohol

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4
Q

What is the first common cause of neonatal mortalilty? Second?

A

1st: cogential malformations
2nd: prematurity

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5
Q

A 23 week pregnant female is present in office for lab results. Her urine culture came back positive for an STI. What should the Ob/Gyn be concerned with?

A. potential preterm rupture of the placenta
B. teratogenesis in fetus
C. funisitis
E. placenta previa

A

C. funisitis is an indicator of Intrauterine infection

STIs like ghonorrhea , chlamydia, ureaplasma are all implicated in intrauterine infection

pg 456

BIG concept: this will ultimately lead to concern of a PRE-mature fetus if not resolved

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6
Q

What are 2 histological signs of intrauterine infection?

A

funisitis and chorioamniocentesis

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7
Q

Analysis of amniotic fluid phospholipids in fetus showed decreased levels. A decision was made upon the birth of the child to place it on a ventilator. What are two potential omplications of this decision?

A
  1. retrolental fibroplasia
  2. bronchopulmonary dysplasia

BOTH due to HYPERoxemia from prolonged ventilation

pg 459

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8
Q

Cortison, prolactin, thyroxine and labor are all factors that modulate what process?

A

surfactant synthesis!

pg 458

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9
Q

What two things are measured to determine risk of developing RDS?

A

lecithin; sphingomyelin ration

L/s ratio <2 = risk of developing RDS

L/S ratio >2 = lung maturity

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10
Q

Neonatal respiratory distress syndrome is associated with diffuse granularity of the lung with a __________ appearance on CXR

A

ground glass

pg 457

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11
Q

Mother gave birth via C-section. Child was tachypnic and cyanotic within minutes. Which of the following explains this?

A. decrease release of fetal glucocorticoids
B. too much surfactant produced after birth
C. intrauterine contractions caused lung collapse
D. delayed labor did not allow fetal lung to mature

A

A. decrease release of fetal glucorticoids

Child has RDS; steroids increase synthesis of surfactant

Not D. delayed labor ALLOWS for fetal lung maturity

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12
Q

A 1 month old boy is brought to the emergency department by his mother due to vomiting after feeding and blood in stool. The patient was born at 28 weeks gestation. His weight was 990 grams at the time of delivery. On physical exam the pt appears lethargic and abdominal distension is appreciated.

Which of the following would be seen in addition to these symptoms?

A. L/S ratio > 1.5 
B. increase C02 retention
C. increase intestinal motility
D. decreased PAF levels in stool
C. congenital malformation 
E. pneumoatosis intestinalis
A

E. pneumatosis intestilais is gas in abdomen seen on abdominaln radiograph

A/ B are sxs of RDS

C. you see DECREASe motility in necrotizing entercolitis

D. increased PAF levels for enterocolitis

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13
Q

_______ is associated with intestinal gangrene, and increased granulation tissue formation in the intestine.

A

necrotizing enterocolitis

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14
Q

What are some potential complication associated with surgical treatment of necrotizing enterooclitis?

A
  1. sepsis
  2. intestinal abscess formation
  3. intestinal perforation
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15
Q

Amnion nodosum is present in what disorder?

A

oligohydramnios ( ex. of a sequence) Whi

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16
Q

Which virus can result in hydrops fetalis?

A

paprovirus B19

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17
Q

____________may present with micro-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant

A

maternal PKU

pg 464

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18
Q

What are the 2 mutations attributable to PKU?

A
  1. BH4 deficiency

2. PAH deficiency

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19
Q

Why is important to identify the correct mutation causing PKU?

A

Because you cannot treat decreased synthesis of TBH4 with dietary restrictions

you supplement TETRAhydrobiopterin for BH4 deficiency

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20
Q

Cystic fibrosis DOES not causes morphological changes in which of the following?

A. salivary glands
B. pancreas
C. liver
D. lungs
E. sweat glands
A

E. sweat glands

Everything else changes

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21
Q

Cystic fibrosis may present with _______natremia

A

HYPO

  • Because CFTR is not there to resorb chloride at sweat ducts, Na+ gets trapped on the sweat in the skin, leading to excessive salt wasting
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22
Q

A 3-year-old boy with a history of recurrent pneumonia and chronic diarrhea. His mother states that he has 6-8 smelly stools per day. PE reveals a low grade fever, scattered rhonchi over both lung fields, rales and dullness to percussion. Which of the following relates to this case?

A. mutation of F508
B. hypernatremia
C. increased ENac activity
D. increased susceptibility to E.coli

A

A. this is cystic fibrosis.. mutation in F508 can result in lack of CFT protein

Not B : you would have hypOnatremia

NOT C. you would have DECREASED ENac activity

Not D. child would have increased susceptibility to P. aeruginosa and B. cenocepia

and others

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23
Q

STUFUF

A

STUFF

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24
Q

____________is a neurocutaneous disorder associated with “port wine stain” which may cause early-onset glaucoma

A

Sturge-Weber syndrome

ppt slides

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25
Q

What is the associated tumor that results from amplification of the N-MYC oncogene?

A

Neuroblastoma

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26
Q

What is the most common tumor of the adrenal medulla in children?

A

Neuroblastoma

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27
Q

A 3-year-old girl is brought to the emergency room after her parents felt an abdominal mass during her bath. She is asymptomatic except for the mass, which is irregular, firm, and clearly crosses the midline, ruling out Wilms tumor. A week later, a biopsy of the mass comes back. What do you expect to see on the biopsy?

  1. anaplasia
  2. positive PAF stain
  3. round pale neuclei
  4. rosettes
  5. blastemal cell types
A

For NEUROBLASTOMA you would expect to see:

homer wright rosette formation seen on histology
and small round blue cells.

(+) NSE stain
(+) VMA/ HVA for catecholamines

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28
Q

Which of the following does not contribute to favorable outcome for a pt with neuroblastoma?

A. amplification of MYC
B. presence of schwanninan stroma
C. age of 13 months
D. stage 4S 
E. hyperdiploid
A

A.

All other answer choiices are FAVORABLE

table 10-8

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29
Q

What two stages have lymph nodes that are NEGATIVE for tumor?

A

Stage 1/2

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30
Q

Wilms tumor is common malignancy at what childhood age?

A

0-4 years old

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31
Q

A 2-year-old girl is brought to the emergency room after her mother discovers a mass in the girl’s abdomen while bathing. The girl occasionally cries when urinating, but is otherwise asymptomatic, without any abdominal pain. On exam, she is found to be hypertensive. There is a palpable, non-tender mass on the right side, which does not cross the midline. A chest radiograph is ordered to assess for lung involvement. Which of the following applies?

A. originates at Neural crest cells
B. abundant neuropil under histological examination
C. result of a germline mutation
D. this decribes the most common adrenal tumor
E. presence of chromothripsis

A

C. Germinline mutation

ALl others are related to neuroblastomas

Chromostripsis : causes localizefd chromosome fragementation in aggreessive neuroblastomas

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32
Q

:Denys-Drash syndrome is a combination of:

  1. ___________
  2. ____________
  3. _____________
  4. increased risk of ________
A
  1. Wilms tumor
  2. Early-onset nephrotic syndrome
  3. Male pseudohermaphroditism
  4. gonadoblastoma
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33
Q

Which of the 3 syndromes with increased risk of Wilms tumor is due to an imprinting abnormality?

A

BWS Beckwith Wiedemann Syndromee

Denys Drash and WAGR are due to single gene

34
Q

What is the classic presentation of WAGR syndrome?

A

Wilms tumor
Anridia
Genital abnormalities
mental Retardation

35
Q

Retrolental fibroplasia is due to which growth factor ?

A

VEGF causes retinal vascular proliferation

36
Q

Pneumatosis intestinalis is a finding of which condition

A

Necrotizing Enterocolitis

seen on abdominal radiograph

37
Q

What is the clinical presentation of necrotizing enterocolitis?

A
  1. blood stools
  2. shock (circulatory collapse
  3. abdominal distention
38
Q

What is fetal hydrops?

A

accumulation of edema fluid in the fetus during intrauterine growth

39
Q

Regarding pathogenesis of immune hydrops., mother in 1st pregnancy produces________ antibodies that dont cross the placenta and in 2nd pregancy ___________ antibodies that cross the placenta.

A

IgM; IgG

40
Q

How do you prevent Rh immune hydrops?

A

administer Rhesus IG that contains anti D abs

  • AT 28 weeks
    AND within 72 hours of delivery during 1st pregnancy OR abortion of 1st pregnancy
41
Q

What is the result (2) of immune hydrops in an infant?

A
  1. anemia due to RBC loss

2. jaundice / kernicterus due to hemolysis of RBC

42
Q

Anasarca is an extreme generalized edema associated with?

A

its a consequence of fetal hydrops

due to liver injury (decrease in plasma protein) and cardiac decompensatioon and failure ____causing generalized edema

43
Q

What are the 3 main causes of non-immune hyrdops?

A
  1. chomosomal abnormalities
  2. cardiovascular problems
  3. fetal anemisa (NOT due to Rh/ABO hydrops)
44
Q

Extramedullary hematopoiesis, hepatosplenomegaly, erthroblastosis fetalis and fetal pallor are all clinical symptoms of _____________?

A

Non-immune hydrops

45
Q

Cataracts, poor feeding, cherry red macula, self-mutilation, jaundice are all abnormalitis that suggest____________?

A

Inborn error of metabolism. (usually automsomal recessive or Xlinked)

46
Q

A 4 m/o infant is brought to his doctor. He was born healthy with no medical conditions. Mom is concerned that he is not meeting “milestones” for his age. What should be considered for this patient?

A

Inborn error of metabolism

fall critically ill quickly or show history of deterioration after a PERIOD OF APPARENT GOOD HEALTH

47
Q

A pt with failure to thrive, intellectual diability, and predisposition to E. coli sepsis has a deficiency in ?

A

GALT (classic galactosemia)

48
Q

What would you tell an older patient that presents with galactosemia?

A

even with control, they may present with ataxia, , gonadal failure / speech disturbances

49
Q

A 47 y/o caucasian male states that he has had problems with viability of his sperm. His lungs are normal and pancreatic function is normal.You suspect cystic fibrosis as one of the potential causes of his azoospermia. You perform a sweat chloride test and assess the molecular phenotype. Which of the following would be the results?

  1. (+) sweat chloride, mild abnormal CFTR
  2. (+) sweat chloride, severe abnormal CFTR
  3. (-) sweat chloride, mild abnormal CFTR
  4. (-) sweat chloride, severe abnormal CFTR
A
  1. (-) sweat chloride , MILD abdnormal CFTR

azoospermia is one of the milder clinical presentations of CFTR abnormalities.

NOT 2. this would be correct for someone presenting with classical cystic fibrosis ( bronchiectasis, pancreatic insufficiency, hepatic cirrhosis

50
Q

A pt with recurrent nasal polyp should have which of the following tests?

A. ELISA test
B. immunoreactive trypsinogen
C. serum phenylalanine
D. blood culture

A

B. this is the one of other. tests that can be used to Diagnose cystic fibrosis

recurrent nasal polyps is a symptoms that can appear years later in about 1/4 of population that has CF

Other test: sweat chloride, CFTR gene sequencing

51
Q

An infant with CF could appear with what symptom at birth?

A

Meconium ileus

52
Q

What is the most common tumor in infancy?

A

Hemangioma

53
Q

A teratoma is MORE likely to be in MALE or FEMALE?

A

Female: Male. 4:1

54
Q

What are the 2 different time periods of incidence for teratomas?

A
  1. at 2 years of age

2. late adolescence

55
Q

What is the MOST COMMON extracranial solid tumor of childhood?

A

Neuroblastoma

56
Q

What would be a NON- infectious cause of fever?

A

Neuroblastoma

57
Q

Deficiency in what enzymes causes the characteristic increase in catecholamines in Neuroblastomas?

A

COMT / MAO enzymes (that typically degrade catecholamines)

58
Q

What is the condition that is a hallmark of malignancy and often correlates with chemotherapy resistance?

A

ANAPLASIA:

morphological characterisitic of WILMS tumor

59
Q

Increased risk of hepatoblastoma, pancreatoblastoma and rhabydomyosarcoma is associated with?

A

Beckwith Wiedemann syndrome. 11p15.5

organomegaly, macroglossia, omphalocele, HEMIHYPERTROPHY

60
Q

Patients with nephrogenic rests are at an increased risk of developing?

A

Wilms tumor in contralateral kidney

Neprhogenic rests are lesions seen in kidney parenchyma

61
Q

What are two major ways that perinatal infections are aquired?

A
  1. transcervical

2. transplacental

62
Q

Fever, encephalitis, hemorrhagic skin lesions and myocarditis are all manifestations of ________

A

TORCH infections

63
Q

TORCH infections can lead to _________ but NOT deformations

A

malformations.

ex. cleft lip, polydactyly, syndactyly

64
Q

What should you pay attention to in a mother with multiple spontaneous abortions?

A

could be a GENETIC cause

  • conduct chromosomal analysis
65
Q

Define a sequence?

A

an origin aberration ( malformation, disruption or deformation) that results in a secondary effect (disruption or deformation)

66
Q

Oligohydramnios (potters sequence) increases risk of ?

A
  1. fetal compression = classic phenotype of flat face, hypoplastic lungs, abnormalities of head and feet
67
Q

An infant born with organomegaly and increased body fat and muscle mass mostly likely was born to a mother with what condition?

A

Maternal diabetes

(this is called fetal MACROSMIA) along with maternal induced hyperinsulinmeia this makes up DIABETETIC EMBRYOPATHY

pg 455

68
Q

Colonization of _______ in the female genital tract causes ACUTE chorioamnionitis and affect neonate

A

Strep B

pg 460

  • any case with child that develops infection shortly after birth (VAGINAL DELIVERY)
    Strep B isMOST COMMON cause of EARLY onset sepsis or infection ( within 7 days of life)
69
Q

what 3 clinical presentations are associated with perinatal infection?

A
  1. pneumonia
  2. sepsis
  3. meningitis
70
Q

alpha-thalassemia and parvovirus 19 cause __________ which can lead to NON-immune hydrops

A

fetal anemia

table 10-3

71
Q

cytomegalovirus, syphillis and toxoplasmosis cause __________ which can lead to NON-immune hydrops

A

Infections

table 10-3

72
Q

hyaline membrane disease is associated with?

A

decreases surfactant production in infant ( RDS)

73
Q

(+) intranuclear inclusions or viral inclusions indicates pesence of ____________

A

parvovirus 19 (causes 5th DISEASE)

74
Q

What 3 factors predispose an infant to neonatal respiratory distress syndrome?

A
  1. male gender
  2. maternal DIABETES ( high insulin decreases surfactant synthesis)
  3. cesarean section
75
Q

Infants who recover from _______ have increased risk of patent ductus arteriosis, intraventricular hemorrhage, necrotizing enterocolotits

A

RDS!

76
Q

WHat type of growth occurs in various midline regions like head / neck, mediastinum, sacrum?

A

Teratoma

77
Q

What type of tumor is associated with 12; 15 chromsomal translocation that results in ETV6/NTRK fusion transcript?

A

Fibrous tumor (congental infantile fibrosarcomas)

78
Q

Chromosomal aneuploidy results in ?

A

fetal loss

79
Q

Re-expression of a maternal IGF-2 allele can result in development of what condition?

A

BWS (Biekman Wiedamann syndrome

80
Q

Presence of shwannian stroma, mature schwann cells and fibroblasts indicate presence of what type of tumor ?

A

Ganglio-neuroblastoma

(favorable outcomes if schwannomian stroma is presetn )

pg 477 morphology box

81
Q

What are the most common.causes of SUID?

A

viral myocarditis and bronchopneumonia

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