[Home-Based Parenteral Nutrition (HBPN)-associated hepatobiliary complications].

Home-based parenteral nutrition (HBPN) allows recovering or maintaining the nutritional status of patients with chronic intestinal failure that cannot afford their nutritional requirements through the digestive route. Frequently, liver function impairments develop along the treatment, which in the most severe cases, and especially in premature and low-weight infants, may lead to an irreversible liver failure. The proper composition of the parenteral nutrition bag, avoiding an excess of energy intake, together with the use of new types of lipid emulsions (with lower content in -6 fatty acids and voided of phytosterols) as well as the use, although being minimal, of the enteral route, may contribute to a decrease in the occurrence of HBPN-associated liver disease.

[Services portfolio of a department of endocrinology and clinical nutrition].

Endocrinology and Clinical Nutrition are branches of Medicine that deal with the study of physiology of body glands and hormones and their disorders, intermediate metabolism of nutrients, enteral and parenteral nutrition, promotion of health by prevention of diet-related diseases, and appropriate use of the diagnostic, therapeutic, and preventive tools related to these disciplines. Development of Endocrinology and Clinical Nutrition support services requires accurate definition and management of a number of complex resources, both human and material, as well as adequate planning of the care provided. It is therefore essential to know the services portfolio of an ideal Department of Endocrinology and Clinical Nutrition because this is a useful, valid and necessary tool to optimize the available resources, to increase efficiency, and to improve the quality of care.

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Objectives: The aim of this study was to validate the Lipochip genetic diagnostic platform by assessing effectiveness, sensitivity, specificity and costs for the identification of patients with familial hypercholesterolemia (FH) in Spain. This platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene.

Design And Methods: DNA samples of patients with clinically diagnosed FH were analyzed for mutations by application of the Lipochip platform.

[Spanish Registry of Home-based Parenteral Nutrition during 2006 (NADYA-SENPE Group)].

Objective: To report the data of the Home Parenteral Nutrition (HPN) registry of the NADYA-SENPE working group for the year 2006.

Methodology: We compiled the data from the on-line registry introduced by the responsible Units for the monitoring of HPN from January 1st to December 31st 2006.

Results: 103 patients with HPN were registered (47 males and 56 females), belonging to 19 hospitals.

Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.

Aim: To determine the effect of the type of mutation in low-density lipoprotein receptor gene and the risk factors associated with the development of premature cardiovascular disease (PCVD) in a large cohort of heterozygous familial hypercholesterolemia (hFH) subjects with genetic diagnosis in Spain.

Methods And Results: A cross-sectional study was conducted on 811 non-related FH patients (mean age 47.1+/-14 years, 383 males and 428 females) with a molecular defect in the low-density lipoprotein receptor (LDLR) gene from the Spanish National FH Register.