Introduction Meconium ileus is a neonatal intestinal obstruction caused by abnormally thick and sticky meconium, typically located in the distal ileum. It is a hallmark of cystic fibrosis (CF) and often the first presentation of this genetic disorder. Etiology Primary Cause: Cystic fibrosis due to mutations in the CFTR gene, leading to abnormal chloride and […]
Introduction: Choriocarcinoma is a highly malignant type of gestational trophoblastic disease (GTD) that arises from abnormal trophoblastic tissue following pregnancy. It is characterized by the proliferation of syncytiotrophoblasts and cytotrophoblasts without the formation of villi. This tumor is highly vascular and prone to hematogenous spread, making it an aggressive cancer. Epidemiology: Choriocarcinoma is reported […]
Introduction Congenital aganglionic megacolon, or Hirschsprung disease (HD), is a congenital disorder characterized by the absence of ganglion cells in the distal bowel due to neural crest cell migration failure during fetal development. This results in a lack of coordinated peristalsis and functional obstruction. Pathophysiology Neural Crest Cell Migration Failure: Ganglion cells in the submucosal […]
Introduction: Ventricular septal defect (VSD) is a hole in the wall that separates the right and left ventricles of the heart, resulting in shunt formation. – They are the most prevalent congenital cardiac anomaly in children and the second most common in adults, surpassed only by bicuspid aortic valves. Etiology: can occur with other congenital […]
Introduction: Patent ductus arteriosus (PDA) is a persistence of the in utero communication between the aortic and pulmonary arteries after birth causing a left-to-right shunt. Risk factors: Maternal rubella infection; prematurity; high altitude, genetic problems such as Down syndrome Pathophysiology: In the fetal circulation, superior vena cava blood enters the right atrium and characteristically […]
Introduction VACTERL association is a nonrandom constellation of congenital anomalies involving multiple organ systems. The acronym stands for: V: Vertebral anomalies A: Anal atresia C: Cardiac defects T: Tracheoesophageal fistula E: Esophageal atresia R: Renal anomalies L: Limb defects Patients often present with at least three of these anomalies, without a unifying genetic or environmental […]
from www.supertestscores.com Introduction: Familial hypercholesterolemia (FH) is a group of autosomal dominant and recessive disorders of lipoprotein metabolism characterized by strikingly elevated low-density lipoprotein-cholesterol (LDL-C), the presence of xanthomas, and premature atherosclerosis. Epidemiology: Homozygous 1 in 1 million; Heterozygous 1 in 500 Pathogenesis: Pathogenic variations in the following four genes can cause FH: (1) […]
Purpose: Vaccinations during pregnancy aim to protect both the mother and the baby from serious infectious diseases. Maternal vaccination not only prevents complications during pregnancy but also provides passive immunity to the newborn through the placenta and breastmilk. Vaccinations are reviewed at the first prenatal visit. Ideally, a patient will be up to date on […]
Overview: Cesarean delivery, also known as elective cesarean section (C-section), is a critical intervention to reduce the risk of mother-to-child transmission (MTCT) of HIV, especially in cases where viral suppression is not achieved. In women with viral loads exceeding 1000 RNA copies/mL, scheduled cesarean (prior to labor or rupture of membranes) has been shown to […]
A 10 day-old male baby was brought to the emergency room because he was irritable, crying constantly, and had a seizure an hour ago. He did not have any fever. Last night blood was noted with stool in his diaper. The birth was an uncomplicated vaginal delivery at home. He was exclusively breast fed since […]
