Repro-Endo: Fetal / Child Development Flashcards
1
Q
- Fetal
- Chomosomal Disorders
- Congenital infections (ToRCHHeS)
- Congenital anomolies
- Placental
- Uteroplacental insufficiency - assymetric growth
- Maternal
- Preeclampsia
- Chronic HTN
- Thombophilias
- Narcotics / Alcohol / Smoking
A
Fetal Growth Restriction
2
Q
- 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
A
Neonatal Respiratory Distress Syndrome
(Hyaline membrane disease)
3
Q
- 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
A
Necrotizing enterocolitis
4
Q
(2) Methods of Perinatal Infections?
A
- Transcervical (Ascending) Infection
- Transplacental (Hematologic) Infection
5
Q
- 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
A
Transcervical (Ascending) Infection
6
Q
- 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
A
Transplacental (Hematologic) Infection
7
Q
-
Perinatal (< First 7 days of Life)
- GBS most common
- Pneumonia, Sepsis, Menningitis
-
Late onset (7 days to 3 Months)
- GBS most common
- Listeria
- Candida
A
Sepsis
8
Q
- 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
A
Hydrops Fetalis
9
Q
- 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)
A
PKU (Phenylketonuria)
10
Q
- 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)
A
Galactosemia
(GALT - Galactose-1-phosphate uridyl transferase)
11
Q
- 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
A
Cystic Fibrosis
12
Q
- 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
A
SIDS (Sudden Infant Death Syndrome)
13
Q
- 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
A
Fibrous Tumor
14
Q
- 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
A
Wilms Tumor
- WAGR
- Wilms tumor
- Aniridia (absent Iris)
- Genitourinary
- Retardation (mental)
15
Q
- Slow growing Tumor w/in Cerebellum, Hypothalamus, Optic nerve
- Loose Spongy and Compact
- Microcysts, Rosenthial Fibers, w/ Focal calcifications
A
Pilocytic Astrocytoma
