A cohort study of accidents occurring in mentally handicapped patients living in institutions.

Background: Mentally handicapped patients who require extensive and generalised care and are resident in mental health institutions have certain characteristics that could mean that they suffer certain types of accidents. The aim of this study was to determine the number and type of accident-related injuries in this population in order to design appropriate preventative strategies.

Methods: Accident-related injuries in patients resident in six institutions in the north of Spain were recorded prospectively over a period of 21 months.

Effect of vitamin D and calcium supplementation on bone turnover in institutionalized adults with Down's Syndrome.

Objective: To assess the status of vitamin D and the effects of calcium and vitamin D3 supplementation on the bone metabolism in a group of adults with Down's syndrome (DS).

Design: Randomized, parallel, controlled and open clinical trial.

Setting: Institution for mentally handicapped: Fundación Uliazpi, Diputación Foral de Guipúzcoa, San Sebastián, Spain.

Allele and haplotype frequencies for HLA class II (DQA1 and DQB1) loci in patients with celiac disease from Spain.

Celiac disease (CD) is a complex and multifactorial disease, defined as a malabsorptive disorder of the small intestine resulting from ingestion of gluten. Genetic susceptibility to CD has been associated with human leukocyte antigen (HLA)-DQ2 heterodimer, encoded by the DQA1*0501 and DQB1*02 genes. However, HLA risk factors do not explain the whole genetic predisposition: not all DQ2-encoding haplotypes confer equal susceptibility to CD.

No association of CTLA4 gene with celiac disease in the Basque population.

Background: Celiac disease (CD) is an autoimmune disorder caused by intolerance to ingested gluten that develops in genetically susceptible individuals. The contribution of human leukocyte antigen (HLA) genes to the genetic risk to CD has been known for a long time; however, non-HLA genetic factors are likely to be required for the development of the disease. Several studies have associated the CD28/CTLA4 region on chromosome 2q33 with the disease in different populations.

[Digital computerized absorptiometry in the diagnosis of osteoporosis in a group of the severely mentally retarded].

Background: The loss of bone mass after a certain age is a physiological fact that, in certain circumstances, is capable of inducing osteoporosis. In the diagnostic strategies for this condition, densitometry is a well-accepted technique now widely used. On patients with severe mental retardation, a number of circumstances come into play and may foster a greater frequency of osteoporosis.

HLA-DRB1 and MHC class 1 chain-related A haplotypes in Basque families with celiac disease.

The contribution of HLA genes to the genetic risk for celiac disease (CD) has been known for a long time. Recent publications have pointed to the possibility that a second, independent susceptibility locus could be located in the same genomic region, and a triplet repeat polymorphism in exon 5 of the gene MHC class I chain-related protein A (MICA; located between TNFA and HLA-B) has been associated with several autoimmune disorders, including type 1 diabetes mellitus (DM1) and Addison's disease. On the other hand, a single amino acid change in exon 3 of MICA (M129V) has been shown to strongly reduce MICA binding to NKG2D, an activating natural killer receptor expressed also on T cells, and this could have significant effects on autoimmune reactions.

HLA-DQA1 and HLA-DQB1 genetic markers and clinical presentation in celiac disease.

Background: Patients with celiac disease are diagnosed at any age and can exhibit a wide range of clinical manifestations. The reasons for this are unclear. The aim of this study was to investigate a possible correlation between the HLA-DQA1 and HLA-DQB1 genetic markers and clinical features of celiac disease.

Probiotic supplementation reduces the risk of bacterial translocation in experimental short bowel syndrome.

Background/purpose: Probiotics are live organisms that survive passage through the gastrointestinal tract and have beneficial effects on the host. Lactobacillus and Bifidobacterium have been recommended for cholesterol lowering, acute diarrhea, prevention of cancer, or inflammatory bowel disease. On the other hand, after massive bowel resection, bacterial overgrowth is frequent and favors bacterial translocation (BT).

[Bioelectric impedance in the nutritional evaluation of mentally deficient quadriplegic adults].

Severely mentally retarded persons with cerebral palsy show a high rate of acute and chronic malnutrition. Without discarging other factors which might be at play, caloric intake deficiency stemming from the difficulties involved in being fed appear to play a crucial role in its etiology. In the assessment of these disorders, anthropometry is limited by the lack of adequate reference values and by the difficulty or impossibility of measuring height using the conventional method.

Non-endoscopic method to obtain Helicobacter pylori for culture.

A sampling method to collect samples for Helicobacter pylori culture that is easier than endoscopy would be useful. We used a capsule attached to a highly absorbent nylon string, which is swallowed to obtain gastric secretions. Antral biopsy and string specimens, sequentially obtained from 36 adults with clinically suspected ulcer or gastric disease were cultured.

Down's syndrome and celiac disease.

The association between Down's syndrome (DS) and autoimmune diseases has long been recognized. However, its relationship to celiac disease (CD) has only recently been reported, and a clear-cut association remains to be fully established. We have studied the prevalence of CD in a random sample of 70 individuals with DS.

[Helicobacter pylori infection and duodeno-gastric reflux].

We have studied and measured the duodenogastric reflux in 11 children with chronic abdominal pain and Helicobacter pylori (HP) through 24-hours gastric pH-metric studies. All parameters evaluated: Number of reflux episodes (NR 92.87 +/- 27.

[Cholelithiasis in childhood. Proposals based on a multicentric study].

Fifty six cases of cholelithiasis in patients aged two months to 15 years (mean age 7.65 years) concerning to 11 hospitals are reviewed. The study protocol followed was the same in all medical records, although own criterions were considered on management performed in each center.

Differential expression of lymphocyte function-associated antigen (LFA-1) on peripheral blood leucocytes from individuals with Down's syndrome.

We analysed the expression of lymphocyte function-associated antigen LFA-1 on the cell surface of peripheral blood lymphocytes, monocytes and granulocytes from 20 children with Down's syndrome. No differences in LFA-1 expression was found within monocytes or granulocytes from either normal or Down's syndrome children; however, a clear-cut difference was observed on lymphoid cells. Both normal and Down's syndrome lymphocytes displayed a bimodal pattern of LFA-1 staining by flow cytometry, with a predominance of cells with low expression in normal population, and an increased proportion of lymphocytes with high level of LFA-1 expression in Down's syndrome children.

Congenital adrenal hypoplasia in a male with gonadotropin deficiency.

We report the case of a boy with adrenal insufficiency diagnosed at the age of 2.5 months. He required immediate therapy with corticosteroids.