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. The characteristics of these injuries were recorded in a database linked to another in which patient data were recorded. A logistic regression model employing the generalized estimating equation (GEE) methodology was employed due to the repetition of patient accidents. RESULTS: There was one death due to foreign body aspiration into the airways. A total of 1,671 injuries were recorded, 0.5% of which were classified as serious, 10% moderate and 89.5% minor. The serious injuries involved fractures (6) and cuts (2), the moderate injuries mainly cuts (57%), bruising (18%) and sprains (13%), and the minor injuries bruising (40%), cuts (35%) and scratches (20%). Falls were the main cause of these injuries (25.2%). The variables associated with serious accidents were self-harm (OR = 1.18), non-collaborative behaviour (OR = 1.21) and inpatient (OR = 1.37). CONCLUSIONS: Accidents in mentally handicapped patients occur in different ways compared to those in the general population. The majority of injuries found were minor (an average of 0.8 to 3.4 accidents per year), with falls being the most common cause. Patients with behavioural disorders undergoing treatment with neuroleptic agents were found to be a risk group, therefore this finding should be taken into consideration when establishing care groups.

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. The aim of the present work was to confirm the aforementioned findings in a southern European population. With this purpose, 136 unrelated children diagnosed with CD were typed at the DNA level for HLA-DQA1 and -DQB1 loci. Patients are currently attended at the Donostia Hospital (province of Guipúzcoa, Spain). HLA class II typing was performed by polymerase chain reaction-sequence specific primer procedures. Conspicuous frequencies of the alleles associated with susceptibility to CD were observed (DQA1*0501: 0.592, DQB1*0201: 0.471). Accordingly, the haplotypes DQA1*0501-DQB1*0201 and DQA1*0201-DQB1*0202 revealed a strong linkage disequilibrium (18.84% and 18.75%, respectively) when compared with the Spanish general population. Of the total sample, 93.4% (127 individuals) were carriers of DQ2 heterodimer, either in homozygosis or in heterozygosis. This percentage coincides with figures reported in previous studies, implying the effect of other genes in the development of 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. The CTLA4 gene encodes a receptor involved in the control of T-cell proliferation and mediates T-cell apoptosis. AIM To determine the contribution of two polymorphisms of the CTLA4 to the disease: the A/G dimorphism at position +49 in exon 1 and the (AT)(n) microsatellite in the 3' untranslated region. PATIENTS: Forty-one celiac families of Basque origin (43 patients with CD and 80 first-degree relatives). METHODS: Restriction enzyme digestion of polymerase chain reaction amplified genomic DNA for the A/G dimorphism and polymerase chain reaction followed by high-resolution electrophoresis for the (AT)(n) microsatellite. For disease association studies, the Affected Family Based Controls approach was used. RESULTS: The frequency of the A allele of 49 A/G polymorphism was 67.47% in the celiac allele group compared with 70.13% in the Affected Family Based Controls group. These differences were not significant. Analysis of the (AT)(n) polymorphism identified 17 different alleles, ranging from 262 to 312 bp in length, but no allele was significantly associated with the disease. CONCLUSIONS: Our results did not show any evidence of association of any of the CTLA4 gene polymorphisms with the disease. This may result from population-specific differences in genetics and environmental susceptibility to CD.

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. METHODS: A total of 133 patients with celiac disease were tested for the HLA-DQA1 and HLA-DQB1 genes. Their corresponding allele and haplotype frequency distributions were estimated from the phenotypes found. The results were correlated with data from the clinical records. RESULTS: The DQ2 molecule was found in 93% of the patients, and DQ2 or DQ8 was found in 98%. The DQA1*0201-DQB1*0202 haplotype showed strong linkage disequilibrium. DQ2 homozygosis was significantly associated with female sex, earlier age at diagnosis, and shorter delay between onset of symptoms and diagnosis. Double-dose DQB1*02 (01-02) allele was more frequent in patients with the classic presentation of the disease. CONCLUSIONS: The genetic markers investigated may prove useful for diagnosing and managing celiac disease. With some clinical variables, correlations not previously described were found. These correlations have a moderate strength and, therefore, must be confirmed by other studies.