Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...

Thrombotic events in neonates may origin from fetal life. A 4-day-old newborn infant with a family history of heterozygous type 1 protein C deficiency was diagnosed with left lung hypoplasia and left pulmonary artery thrombosis. Its source was prenatally closed ductus arteriosus. Surgical removal of the thrombus was performed.

A 2-month-old patient with transposition of the great arteries, a ventricular septal defect, pulmonary stenosis, and severe hypoplasia of the right ventricle successfully underwent a biventricular repair utilizing the aortic translocation technique. Advantages of this surgical repair over the Rastelli procedure in the management of this complex congenital heart lesion are discussed.

SIGNIFICANT outflow obstruction of both ventricles on a congenital basis is rare. Only 11 cases have been reported1-7 and, in most instances, the stenosis was either valvular or subvalvular on both sides. Supravalvular stenosis occurring in the pulmonary arteries or in the root of the aorta, although uncommon, has been reported frequently in recent years. The association of these two lesions in...

Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmo...

OBJECTIVE To assess the efficacy of arterial duct angioplasty in maintaining adequate ductal patency in neonates with critical pulmonary valve stenosis. PATIENTS Two neonates presenting with cyanosis due to critical pulmonary valve stenosis with severe right ventricular hypoplasia underwent percutaneous balloon dilatation of the pulmonary valve. Despite successful dilatation, both remained cy...

Current classifications of pulmonary hypertension have contributed a great deal to our understanding of pulmonary vascular disease, facilitated drug trials, and improved our understanding of congenital heart disease in adult survivors. However, these classifications are not applicable readily to pediatric disease. The classification system that we propose is based firmly in clinical practice. T...

Pulmonary sequestration is a congenital malformation characterized by focal area of dysplastic lung tissue that lacks normal communication with tracheobronchial tree and receives blood supply from systemic arteries. Surgical resection has been the conventional method of treatment of pulmonary sequestration. In recent years transarterial embolization of the anomalous systemic arteries has emerge...

Background and Objective: Congenital diaphragmatic hernia (CDH) is an anomaly of the cardiopulmonary system maturation process that results from both a global embryopathy concomitant mechanical compression abdominal contents during fetal maturation. This in pulmonary hypertension, hypoplasia, cardiac dysfunction, requiring intense critical care management. The patients with highest risk CDH are...

background: the prevalence of hip dysplasia is 1 in 1000. several pelvic osteotomy methods have been developed to prevent early osteoarthritis, such as triple osteotomy. in this study we are going to introduce our new technique that was done on 4 patients with favorable short-term results.   methods: four patients underwent triple osteotomy and fixation using a reconstruction plate and early we...