Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...

Cystic fibrosis transmembrane conductance regulator (CFTR) is a well-known component since it was found that some specific mutations of CFTR gene can cause cystic fibrosis and congenital bilateral absence of vas deferens (1, 2). Interestingly, more and more studies demonstrate that CFTR also modulates acute lung injury (ALI) (3-8), a devastating inflammatory lung syndrome characterized by diffu...

Thirty-seven (1-6%) tracheas from 2170 children showed squamous metaplasia. (Cases with tracheo-oesophageal fistula and congenital heart disease were excluded). The metaplasia extended into the bronchi in 15 cases. Features of pulmonary retention were present in seven cases. Respiratory infection, probably viral, seemed to be the most significant causative factor in 20 children, including those...

Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Firm or hard hepatomegaly is present nearly in all patients, often with a prominent left lobe, and this is usually one of the presenting signs. The haematological manifestations...

Background Measurement of myocardial extracellular volume fraction (ECV) with T1 mapping cardiac magnetic resonance (CMR) before and after the application of a gadolinium-based extracellular contrast agent enables the assessment of diffuse myocardial fibrosis. The equilibrium between blood and myocardium contrast concentration required for ECV measurements can be achieved with a primed contrast...

CASE SUMMARY We describe the case of a 1-year-old male Persian cat diagnosed with congenital hepatic fibrosis (CHF) associated with renal polycystic disease and, for the first time, we have shown that there was no C >A mutation in exon 29 of PKD1 (polycystic kidney disease 1). The cat presented with a history of chronic weight loss, anorexia, vomiting, depression and lethargy, with profuse sali...

Penile reconstructive surgeries are performed mainly as radical treatment for conditions associated with congenital abnormalities of the urethra or penis, after penile trauma, penile cancer, short penis, corporal fibrosis and in cases of gender reassignment. We present here a method of penile reconstruction with a pre fabricated radial forearm free flap incorporating the segment of the radius f...

BackgroundCongenital disorders of glycosylation (CDG) result from defects in the synthesis glycans and their attachment to proteins lipids. Histologically, liver steatosis, fibrosis cirrhosis have been reported CDG.The aim study was characterize histopathological ultrastructural changes CDG patients hospitalized our Institute, find most characteristic features, as articles concerning microscopi...

BACKGROUND Pulmonary arteries are not just affected by thrombus. Congenital and acquired conditions can also involve the pulmonary arteries. An awareness of these conditions is important for the radiologist interpreting chest computed tomography (CT). METHODS The anatomy of the pulmonary arteries was reviewed. CT and magnetic resonance (MR) acquisition protocols for imaging the pulmonary arte...