Introduction Nocturnal enuresis, commonly known as bedwetting, is the involuntary voiding of urine during sleep in children over the age of 5 years, when bladder control is expected to be established. It is a common and often distressing condition for children and their families. Etiology Primary nocturnal enuresis (most common): No previous period of sustained […]
Introduction: Human papillomavirus (HPV) is the most common sexually acquired infection in the world. The human papillomavirus (HPV) vaccine is a preventive measure aimed at reducing the incidence of HPV-related diseases, including cervical, anal, oropharyngeal, and other cancers, as well as genital warts. HPV is a common sexually transmitted infection, and certain high-risk types (e.g., […]
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 Budd-Chiari syndrome is caused by the occlusion of hepatic venous outflow due to a thrombus, leading to ischemia from reduced hepatic arterial perfusion and necrosis of hepatocytes. Epidemiology Incidence: 1 case per million per year. Non-Asian countries: More common in women aged 30–40 years. Asian countries: More common in males. Risk Factors Hypercoagulable states: […]
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) […]
