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

Robbins Chapter 10 Flashcards

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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(-)?

Study These Flashcards
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)

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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)

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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?

Study These Flashcards
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)

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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)

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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
CFTR gene and ENaC (airway vs sweat duct)
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
CFTR and Bicarbonate Transport (Pancreatic Insufficiency)
SLC26 coexpressed with CFTR - responsible for bicarbonate ion transport - problems = acidic secretions (normally alkaline) that cause mucin precipitation and duct plugging
27
What 3 modifiers of Neutrophil action inc. the severity of Pulmonary Disease in patients with Cystic Fibrosis? (MTI)
mannose-binding lectin 2 (MBL2), TGF-B1, interferon related developmental regulator 1 (IFRD1)
28
What are the 3 most common bacteria that infect the lung and what opportunistic bacteria is most common in CF patients?
top 3: S. aureus, H. influenza, P. aeruginosa Most common in CF patient: B. cenocepacia - cepacia syndrome, longer hospital stays, inc. death
29
What are two common GI features of CF and what nasal abnormality can indicate testing a child for CF?
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
What ages are associated with: 1. Neonatal period 2. Infancy 3. Toddler/preschool 4. School Age
1. first 4 weeks of life 2. up to age 1 3. age 1-4 4. age 5-14
31
When does SIDS usually occur? What is its most common finding?
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
How is SIDS associated with Arousal and Cardiorespiratory control?
Arousal --> delayed development of serotonin RAS - stimulated laryngeal chemoreceptors elicit INHIBITORY cardiorespiratory reflex - prone position and respiratory tract infection in these children = FATAL
33
What are 3 exogenous stressors that inc. risk of SIDS?
hyperthermia, co-sleeping, sleeping on soft surfaces
34
What is a Hemangioma?
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
Lymphangiomas vs Lymphangiectasis
- 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
What are Congenital-infantile Fibrosarcomas? What translocation is associated with them?
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
Sturge-Weber Syndrome presentation and 4 associated factors (GLSS)
sporadic congenital neurocutaneous disorder - "port-wine stain" in opthalamic branch of Trigeminal N. - also: glaucoma, abnormal leptomeninges capillaries, seizures, stroke
38
What are Neuroblastomas and where are they found?
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
Neuroblastomas and Pseudorosettes
rosettes where tumor are arranged concentrically around neuropil - positive immunohistochemical reaction for ENOLASE
40
What is the relationship between Schwannian stroma and Ganglioneuroblastomas and Ganglioneuromas?
better outcome - maturation of neuroblasts into ganglion cells usually accompanied by Schwann cells
41
Clinical Presentation of Neuroblastoma
large abdominal mass w/fever and weight loss proptosis, "blueberry muffin baby" (disseminated neuroblastomas), bladder dysfunction inc. serum catecholamines (VMA and HVA elevated)
42
What ages, stages, ploidy, and NMYC amplifications are associated with Favorable and Unfavorable prognosis for Neuroblastomas?
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
What is Wilms Tumor? What do Nephrogenic Rests mean for Wilms Tumors?
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
WAGR Syndrome (Wilms Tumor)
- 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
Denys-Drash Syndrome (Wilms Tumor)
- 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
Beckwith-Wiedemann Syndrome (Wilms Tumor) and IGF-2/CDKN1C
- 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
Wilms Tumor Morphology (4)
- 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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