Repro-Endo: Fetal / Child Development Flashcards Preview

Pathology > Repro-Endo: Fetal / Child Development > Flashcards

Flashcards in Repro-Endo: Fetal / Child Development Deck (17):
1

  • Fetal
    • Chomosomal Disorders
    • Congenital infections (ToRCHHeS)
    • Congenital anomolies
  • Placental
    • Uteroplacental insufficiency - assymetric growth
  • Maternal
    • Preeclampsia
    • Chronic HTN
    • Thombophilias
    • Narcotics / Alcohol / Smoking

Fetal Growth Restriction

2

  • Resp. Difficulty few hours after Birth
  • Grunting  - w/ Fine Rales
  • Tachypnea
  • Intercostal retractions (aux. muscles)
  • Hypoxemia and Respiratory Acidosis (Lactic acid)
  • "Ground Glass" on CXR - reticulogranular densities
  • Decreased Surfactant in Fetal Lungs (< Lecithin)
    • Male gender
    • Prematurity
    • Maternal DM (poorly controlled)
      • Fetal Hyperglycemia --> insulin release
    • Cesarean section --> Lack of Stress-Incuded Cortisol
  • Collapsed Alveoli lined by Hyaline Membranes
  • Mutations in SFTPB and SFTPC
  • Tx: CPAP therapy w/ endo-trach tube w/ O2 and Surfact.
  • A/w PDA, Intraventricular hemorrhage, Necrotizing enterocolitis

Neonatal Respiratory Distress Syndrome

(Hyaline membrane disease)

3

  • Bloody stools
  • Abdominal distention (Gas w/in the intestinal wall)
  • Circulatory collapse
  • A/w Terminal Ileum, Cecum, Right Colon
  • 1/10 Very Low Birth Weight  (< 1500 gm)
  • Breakdown of Mucosal barrier functions --> transluminal migration of Stomach Bacteria --> Inflammation and Necrosis --> Cycle repeats
  • Tx: Early conservative followed by Sx

Necrotizing enterocolitis

4

(2) Methods of Perinatal Infections?

  1. Transcervical (Ascending) Infection
  2. Transplacental (Hematologic) Infection

5

  • Mostly Bacterial w/ some Viral Infections (HSV-2)
  • A/w inhaling infected Amniotic fluid before Birth or by Passing through an infected Birth canal
  • A/w Damage and Rupture of Amniotic Sac

Transcervical (Ascending) Infection

6

  • Fever, Enchephalitis, Chorioretinitis, Hepatosplenomegaly, Pneumonitis, Myocarditis, Hemolytic anemia, Vesicular or Hemorrhagic skin lesions
  • ToRCHHeS
  • Chronic growth and mental retardation, Cataracts, Congenital Cardiac anomalies, Bone defects 
  • Mostly Parasitic (Toxoplasma gondii, Malaria) and Viral Infections and a Few Bacterial Infections (Listeria, Treponema)
  • Transplacentally via the Chorionic villi

Transplacental (Hematologic) Infection

7

  • Perinatal (< First 7 days of Life)
    • GBS most common
    • Pneumonia, Sepsis, Menningitis
  • Late onset (7 days to 3 Months)
    • GBS most common
    • Listeria
    • Candida

Sepsis

8

  • Accumulation of Edema fluid in the Fetus during Intrauterine growth
  • Immune Hydrops - Rh Incompatibility --> Resulting in a Hemolytic disease caused by Blood group Antigen incompatibility between Mother and Fetus
    • Rh D antigen is the major contributor
    • Rh Antigen and ABO group Antigens
    • RhoGam
  • (3) Non-Immune Hydrops
    • Cardiac defects
    • Chromosomal anomalies
    • Fetal anemia

Hydrops Fetalis

9

  • Mental retardation, Microcephaly
  • Strong Musty or Mousy odor
  • Decreased Pigmentation (low melanin) and Eczema
  • Deficiency of Phenylalanine Hydroxylase
    --> Increase in Phenylalanine
    --> Decrease Tyrosine
  • A/w Scandinavian decent
  • Accumulation of Phenylalanine Neurotoxic by-products
  • Tx: Restrict Phenylalanine, Add Tyrosine, Pregnant women w/ PKU must be on a Phenylalanine free diet or Newborns will be Mentally retarded at Birth (teratogenic effects --> maternal PKU)

PKU (Phenylketonuria)

10

  • Fail to thrive from Birth, Vomiting, Diarrhea, Jaundice, Hepatomegaly w/in the First Week of Life
  • Mental retardation, Cirrhosis, Fasting Hypoglycemia (decrease in Gluconeogenic substrates distal to Block), Cataracts (Osmotic damage)
  • Avoid Dairy products (Galatose derives from Lactose)
  • Deficiency in GALT or Galactokinase
    --> Increase Galactose 1-P --> Decrease Glucose 1-P
    --> Decrease Glucose 6-P --> Decrease Glucsoe
  • Galactose in Urine
  • Galactitol (ETOH, Sugar, Increase Osmotic damage Lens)
  • Accumulation of Galactose 1-P (Toxic to Liver, CNS)

Galactosemia

(GALT - Galactose-1-phosphate uridyl transferase)

11

  • Viscous secretions that Obstruct Organ Passage
  • Pancreatic --> Meconium ileus, tarry black fatty stools
  • Liver --> Steatosis, Dilation of Salivary Glands
  • Azoospermia in Males
  • Defect in Epithelial Chloride Channel protein, CFTR gene on Chromosome 7p31.2 --> activation of Protein Kinase A with ATP phosphorylation a/w cAMP-mediated signaling
  • Autosomal recessive disorder of Ion Transport that effects Fluid secretion from Exocrine glands and in the Epithelial lining of the Resp., GI, and Reproductive tracts

Cystic Fibrosis

12

  • Maternal Risk Factors: Smoking, Young age, Frequent Childbirths, and Inadequate Prenatal Care
  • Infant Risk Factors: Prematurity, SID Sibling, Mild Resp. Inf., Sleeping prone or on Side, Neural development delay, Brainstem defect, Slow wake from slow wave sleep
  • Sudden and Unexpected Death of a Healthy Infant < 1 yr.
  • Remains unexplained after a thorough case investigation and Autopsy
  • Most occurs between 2 and 4 months

SIDS (Sudden Infant Death Syndrome)

13

  • Sparsely Cellular Proliferations of Spindle Shaped cells
    --> Fibromatosis
  • t(12;13)(p13q25) --> Congenital-infantile Fibrosarcoma
    --> ETV6-NTRK3 fusion transcript --> Tyrosine Kinase
    signaling through RAS and PI-3/AKT

Fibrous Tumor

14

  • Unilateral palp. mass in Child w/ HTN (renin secretion)
  • Lungs are most common site of Tumor
  • Large Necrotic Gray-tan Tumor (mesonephric mesoderm)
  • Abortive Glomeruli, Tubules, Prim. Blastemal cells, Rhabdomyoblasts
  • Primary Renal Tumor in Children
  • 2 to 5 y.o.
  • Sporadic (most common)
  • Genetic Type
    • WAGR syndrome
    • Autosomal Dominant
    • Beckwith-Wiedemann Syndrome
      • Macroglossia, Enlarged body organs
      • Hemihypertrophy of Extremities

Wilms Tumor

  • WAGR
    • Wilms tumor
    • Aniridia (absent Iris)
    • Genitourinary
    • Retardation (mental)

15

  • Slow growing Tumor w/in Cerebellum, Hypothalamus, Optic nerve
  • Loose Spongy and Compact
  • Microcysts, Rosenthial Fibers, w/ Focal calcifications

Pilocytic Astrocytoma

16

  • High grade, Anaplastic
  • Cerebral Hemispheres, Brain stem, Spinal cord
  • Poor prognosis
  • Giant cells, Necrosis, Endothelial cell proliferation
  • Numerous Mitosis
  • Increased cellularity

Glioblastoma Multiforme

17

  • Paraneoplastic syndrome - "Racoon Eyes" - Orbital metastases - MYCN (N-myc)
  • Skin metastases - "Blueberry muffin"
  • Watery diarrhea - vasoactive peptides
  • Opsoclonus - myoclonus
  • Abdominal mass w/ calcification
  • 50 - 60% metastisize
  • Urinary Catecholamines - 85%
  • VMA - vanillymandelic acid
  • HVA - homoyanillic acid

Neuroblastoma