Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis.

[Evaluation and nutritional therapy in cirrhotic patients of the "Edgardo Rebagliati Martins" hospital].

A nutritional evaluation was carried out in 43 cirrhotic outpatients who came to the Digestive Disease Department of the Edgardo Rebagliati Martins Hospital for a checkup. The evaluation included a dietary composition analysis; nutritional status through the analysis of lean and fatty mass through anthropometric parameters (tricipital skin fold thickness, midarm muscle circumference, muscle arm circumference and creatinine excretion in the 24 h urine/height ratio), measuring of visceral proteins (albumin, transferrin) and bioelectric Impedance. Finally, a nutritional dietary intervention was made according to international standards for cirrhotic patients.