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MOD (Mechanisms of Disease) Exam 2 > Robbins Chapter 10 > Flashcards

Robbins Chapter 10 Flashcards

1
Q

4 common causes of death in infants < 1 yo (CPSM)

A
  1. congenital malformations
  2. prematurity
  3. SIDS
  4. maternal complications
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2
Q

4 common causes of death in 1-4 yos (ACAM)

A
  1. accidents
  2. congenital malformations
  3. assault
  4. malignant neoplasms
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3
Q

4 common causes of death in 5-9 yos (AMCA)

A
  1. accidents
  2. malignant neoplasms
  3. congenital malformations
  4. assault
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4
Q

4 common causes of death in 10-14 yos (AMSA)

A
  1. accidents
  2. malignant neoplasms
  3. suicide
  4. assault
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5
Q

Teratogens (Valproic Acid and All-Trans RA)

A

VA (antiepileptic)

  • disrupts HOX proteins –> weird limb development
  • mimicked by HOX gene defects

AT RA (accutane –> acne)

  • excess = CNS, cardiac, palate deformities
  • mimicked by TGF-beta
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6
Q

Moderate-Late, Very, and Extremely Preterm time frames

A

ML: 32-37 weeks
Very: 28-32 weeks
Extremely: < 28 weeks

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7
Q

4 major risks for Prematurity (PISM)

A
  1. Preterm Premature Rupture of Membranes
    • infection of amniotic space
  2. Intrauterine Infection –> 25%
  3. Structural Abnormalities
  4. Multiple Gestation (twin pregnancy)
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8
Q

Fetal vs Placental vs Maternal FGR

A

F - congenital problems, TORCH infections
symmetric restrictions = organs affected equally

P - heavy placental blood burden (3rd trimester)

  • fetus growth outpaces nutrient supply
  • *asymmetric restrictions = brain spared**

M - MOST COMMON (dec. placental blood flow)
- preeclampsia, HTN, malnutrition, drugs, alcohol

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9
Q

What are the three biggest risk groups for Neonatal Respiratory Distress Syndrome? (MMC) What would the physical exam reveal about these patients?

A

males, maternal diabetes, C-section

  • fine rales in lung fields, ground-glass densities on chest X-Ray
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10
Q

Neonatal Respiratory Distress Syndrome

A
  • deficient in SP-B, SP-C, and surfactant lipids (check in the amniotic fluid) –> Type II Pneumocytes
  • progressive atelectatic lungs and reduced membrane compliance = hyaline membrane formation
  • hypoventilation = acidosis and pulmonary vasoconstriction
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11
Q

What two things increase surfactant synthesis and what two things decrease surfactant synthesis? What does prognosis of NRDS depend on? (2 things)

A

Increase: labor and cortisol (glucocorticoids)
Decrease: insulin (diabetic mother) and C-section

Prognosis depends on: maturity and birth weight

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12
Q

Retrolental Fibroplasia and Bronchopulmonary Dysplasia (Complications of Ventilator Oxygen)

A

RF: VEGF rebound after loss of high oxygen lvls from ventilator = retinal vessel proliferation

BD: dec. alveolar septation (large, simple alveoli), happens at the saccular stage
- inflammatory cytokines can cause

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13
Q

What 3 things are NRDS patients who recover at risk for?

A

Patent Ductus Arteriosus, Intraventricular Hemorrhage, Necrotizing Enterocolitis

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14
Q

Necrotizing Enterocolitis (NRDS risk)

A

enteral feeding where bacteria is introduced to infant

Platelet Activating Factor (PAF) –> enterocyte apoptosis = gut microbes cause inflammation

Pneumatosis Intestinalis

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15
Q

Presentation and Management of NEC

A

BLOODY STOOL, DISTENSION, SHOCK

terminal ileum, cecum, right colon = commonly
- resection of necrotic bowel (post strictures)

coagulative necrosis, ulceration, bacterial colonization, submucosal gas bubbles (pneumatosis intestinalis)

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16
Q

Transplacental vs Transcervical Perinatal Infections

A

TP: parasitic/viral (mostly) –> fetal bloodstream

TC: bacterial (mostly)
- breath amniotic fluid or passing through canal

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17
Q

Early Onset vs Late Onset Perinatal Sepsis

A

EO - 7 days of life
- from group B strep (pneumonia, sepsis, meningitis)

LO - 7 days to 3 months
- from listeria/candida (sepsis)

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18
Q

Immune Hydrops (Rh and ABO) and Protection

A

Rh –> mother (Rh-) makes IgG after first pregnancy that can attack future Rh+ babies

  • D antigen (from father)
  • use Rhesus (RhIg) –> rhogam (anti-D antigen)

ABO –>A/B fetus with O mother that have anti-A/B Abs that are IgG
- NO effective PROTECTION

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19
Q

When should Rhesus be administered to mothers that are Rh(-)?

A

at 28 weeks and 72 hours after delivery or abortion of first pregnancy

20
Q

What 3 things can cause non-immune hydrops? (CCF)

A
  1. CV defects
  2. Chromosomal Abnormalities (Turner, 18, 21)
    • cystic hygromas is Turner
  3. Fetal Anemia NOT of Rh/ABO cause
    • alpha thalassemia and Parovirus B19
21
Q

Classical Phenylketonuria cause and presentation (5 major things)

A

deficient phenylalanine hydroxylase (PAH) = hyperphenylalanemia (treated with diet restriction)

  • mental retardation in 6 months, seizures, dec. pigment, eczema, and MUSTY/MOUSY ODOR

2% of cases due to cofactor BH4 that CANNOT be treated with diet

22
Q

When should mothers with PKU restrict phenylalanine during pregnancy?

A

restrict diet prior to conception and throughout prenancy

  • metabolites act as TERATOGENS = mental retardation, microcephaly, congenital heart disease
23
Q

Galactosemia cause and presentation (4 major things)

A

deficient Galactose-1-phosphate uridyl transferase

  • accumulation of Galactose-1-phosphate
  • galactokinase deficiency (Rxn 1) = RARE
  • cataracts (galactitol accumulation), edema in DENTATE and OLIVARY nuclei (mental retardation less severe than PKU), aminoaciduria, hepatomegaly

FAILURE TO THRIVE (remove milk in first 2 years)

24
Q

Cystic Fibrosis cause and presentation (4 major things)

A

3 base deletion on Chromosome 7q31.2
- defect in protein folding in golgi/ER

  • reoccurring lung infections, pancreatic insufficiency, and steatorrhea, MALE INFERTILITY
25
Q

CFTR gene and ENaC (airway vs sweat duct)

A

Airway: inhibited by normal gene

  • inc. uptake of Na across apical membrane in CF
  • dryer mucus (hyperconcentrated)

Sweat Duct: ENaC activity DECREASES (opposite)

  • reduced Na absorption from sweat
  • SALTY Babies (diagnostic)
26
Q

CFTR and Bicarbonate Transport (Pancreatic Insufficiency)

A

SLC26 coexpressed with CFTR
- responsible for bicarbonate ion transport

  • problems = acidic secretions (normally alkaline) that cause mucin precipitation and duct plugging
27
Q

What 3 modifiers of Neutrophil action inc. the severity of Pulmonary Disease in patients with Cystic Fibrosis? (MTI)

A

mannose-binding lectin 2 (MBL2), TGF-B1, interferon related developmental regulator 1 (IFRD1)

28
Q

What are the 3 most common bacteria that infect the lung and what opportunistic bacteria is most common in CF patients?

A

top 3: S. aureus, H. influenza, P. aeruginosa

Most common in CF patient: B. cenocepacia
- cepacia syndrome, longer hospital stays, inc. death

29
Q

What are two common GI features of CF and what nasal abnormality can indicate testing a child for CF?

A

GI: meconium ileus and intussusception in RLQ
- telescoping of colon

Sinonasal polyps occur in 10-25% of patients but are good indicators that a child should be tested for CF

30
Q

What ages are associated with:

  1. Neonatal period
  2. Infancy
  3. Toddler/preschool
  4. School Age
A
  1. first 4 weeks of life
  2. up to age 1
  3. age 1-4
  4. age 5-14
31
Q

When does SIDS usually occur? What is its most common finding?

A

mostly occurs between 2nd and 4th month of life
- leading cause of death between 1 month and 1 year

commonly seen with: multiple petechiae on thymus, visceral/parietal pleura, and epicardium

32
Q

How is SIDS associated with Arousal and Cardiorespiratory control?

A

Arousal –> delayed development of serotonin RAS

  • stimulated laryngeal chemoreceptors elicit INHIBITORY cardiorespiratory reflex
  • prone position and respiratory tract infection in these children = FATAL
33
Q

What are 3 exogenous stressors that inc. risk of SIDS?

A

hyperthermia, co-sleeping, sleeping on soft surfaces

34
Q

What is a Hemangioma?

A

MOST COMMON TUMOR OF INFANCY

usually face and scalp = “port-wine stains”

  • cavernous or capillary (capillary MORE cellular in children than adults = NO BUENO)
35
Q

Lymphangiomas vs Lymphangiectasis

A
  • angiomas: cystic/cavernous spaces
    • usually deep regions of neck, axilla, retroperitoneal
    • may encroach on vital tissue (fluid accumulation)
  • angiectasis: abnormal dilation of preexisting channels
    • diffuse swelling of all or part of EXTREMITY
    • spongy/dilated subQ or deeper lymphatic ducts
36
Q

What are Congenital-infantile Fibrosarcomas? What translocation is associated with them?

A

richly cellular and indistinguishable from adult versions

better outcome than adult = EXCELLENT prognosis

t(12;15) = ETV6-NTRK3 fusion transcript

  • continually active RAS/PI3K/AKT pathways
  • DIAGNOSTIC FINDING
37
Q

Sturge-Weber Syndrome presentation and 4 associated factors (GLSS)

A

sporadic congenital neurocutaneous disorder

  • “port-wine stain” in opthalamic branch of Trigeminal N.
  • also: glaucoma, abnormal leptomeninges capillaries, seizures, stroke
38
Q

What are Neuroblastomas and where are they found?

A

most common extracranial solid tumor of childhood

  • diagnosis age = 18 months w/abdominal mass
  • ALK mutation = familial predisposition to NB

location: adrenal medulla and sympathetic chain ganglia (Chromaffin cells)
- paravertebral region and post. mediastinum

39
Q

Neuroblastomas and Pseudorosettes

A

rosettes where tumor are arranged concentrically around neuropil

  • positive immunohistochemical reaction for ENOLASE
40
Q

What is the relationship between Schwannian stroma and Ganglioneuroblastomas and Ganglioneuromas?

A

better outcome

  • maturation of neuroblasts into ganglion cells usually accompanied by Schwann cells
41
Q

Clinical Presentation of Neuroblastoma

A

large abdominal mass w/fever and weight loss

proptosis, “blueberry muffin baby” (disseminated neuroblastomas), bladder dysfunction

inc. serum catecholamines (VMA and HVA elevated)

42
Q

What ages, stages, ploidy, and NMYC amplifications are associated with Favorable and Unfavorable prognosis for Neuroblastomas?

A

Favorable

  • age: < 18 months
  • stage: 1, 2a, 2b, 4s (commonly regresses on its own)
  • ploidy: hyperdiploid
  • NMYC amplification: NONE

Unfavorable:

  • age: > 18 months
  • stage: 3, 4
  • ploidy: near diploid (chromothripsis)
  • NMYC amplification: YES

use FISH analysis to find NMYC amplifications

43
Q

What is Wilms Tumor? What do Nephrogenic Rests mean for Wilms Tumors?

A

most common renal tumor of childhood (age 2-5 and almost all by age 10)

Nephrogenic Rests: precursor lesions of Wilms tumor in RENAL PARENCHYMA
- pts @ inc. risk of developing Wilms tumor in other kidney –> SURVEILLANCE REQUIRED

44
Q

WAGR Syndrome (Wilms Tumor)

A
  • 33% w/Wilms Tumor, Aniridia, genital anomalies, MR

11p13 deletion (WT1 and Pax6 = aniridia (no iris))

**can have Pax 6 loss W/O WT1 loss

45
Q

Denys-Drash Syndrome (Wilms Tumor)

A
  • 90% w/Wilms Tumor, gonadal dysgenesis, early neuropathy

dominant (-) missense mutation in ZINC-FINGER region of WT1 protein (no DNA binding)

WT1 critical for kidney/gonad development (mutated = inc. risk of gonadoblastomas)

46
Q

Beckwith-Wiedemann Syndrome (Wilms Tumor) and IGF-2/CDKN1C

A
  • 5% w/Wilms Tumor, organomegaly, macroglossia, adrenal cytomegaly, omphalocele

involves 11p15.5 (WT2) –> Imprinting
- IGF-2 (paternal) –> uniparental disomy (tumor)

also CDKN1C –> p57 mutation
- inc. risk of hepato/pancreatoblastomas, rhabdomyosaracomas, and adrenocortical tumors

47
Q

Wilms Tumor Morphology (4)

A
  • large solitary well circumscribed mass (necrosis, cysts, hemorrhage)
  • large abdominal mass across midline into pelvis (hematuria, bowel obstruction, hypertension)

Triphasic: blastemal (small blue cells), stromal, epithelial (tubules)

5% –> anaplasia (TP53 mutation)

MOD (Mechanisms of Disease) Exam 2 (4 decks)

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