L'évaluation, le diagnostic et la prise en charge du trouble développemental de la coordination.

Le trouble développemental de la coordination est une affection neurodéveloppementale qui touche de 5 % à 6 % des enfants d'âge scolaire. Il peut avoir des effets considérables sur le début du développement et le fonctionnement tout au long de la vie. Les données probantes appuient des interventions prometteuses, mais ce trouble continue d'être sous-estimé et sous-diagnostiqué.

Assessment, diagnosis, and management of developmental coordination disorder.

Developmental coordination disorder (DCD) is a neurodevelopmental condition that affects 5% to 6% of school-aged children. DCD can significantly impact early development and life-long functioning. Evidence supports promising interventions for DCD, but the disorder continues to be under-recognized and under-diagnosed.

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.

Collection and processing of whole blood for transformation of peripheral blood mononuclear cells and extraction of DNA: the Type 1 Diabetes Genetics Consortium.

Background: and

Purpose: To yield large amounts of DNA for many genotype analyses and to provide a renewable source of DNA, the Type 1 Diabetes Genetics Consortium (T1DGC) harvested DNA and peripheral blood mononuclear cells (PBMCs) from individuals with type 1 diabetes and their family members in several regions of the world.

Methods: DNA repositories were established in Asia-Pacific, Europe, North America, and the United Kingdom. To address region-specific needs, different methods and sample processing techniques were used among the laboratories to extract and to quantify DNA and to establish Epstein-Barr virus transformed cell lines.

Nomenclature for HLA microsatellites.

A proposal for a standardized nomenclature for human leukocyte antigen (HLA) microsatellites is presented. It provides recommendations for Microsatellites as regards to locus name, primer names, and denominations for alleles.

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.

Background: During whole genome microarray-based comparative genomic hybridisation (array CGH) screening of subjects with idiopathic intellectual disability, we identified two unrelated individuals with a similar de novo interstitial microdeletion at 2p15-2p16.1. Both individuals share a similar clinical phenotype including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features.

Screening for autism spectrum disorders with the social communication questionnaire.

The Social Communication Questionnaire (SCQ) is a parent report screening measure for autism spectrum disorders (ASDs) based on the Autism Diagnostic Interview-Revised (ADI-R). To examine its validity in a young sample, the SCQ was given to parents of 151 children at a mean age of 5 years, before assessment in tertiary autism or preschool clinics. Overall sensitivity was .

The single antigen expressing lines (SALs) concept: an excellent tool for screening for HLA-specific antibodies.

Definition of the antibody specificity in the serum of patients waiting for a renal transplant or in need for platelet transfusion is a crucial step for finding adequate donors. Confounding factors are the complexity of the serum antibodies and the expression of several, up to six, different human leukocyte antigens (HLA) on peripheral blood lymphocytes used as target cells in the antibody screening. Single antigen-expressing (SAL) cell lines were generated by transfecting human major histocompatibility complex (MHC) class I sequences into K562, an erythroleukemia-derived cell line lacking MHC class I and II expression.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15.3 and the remaining clinical features to 5p15.

Limits of HLA mismatching in unrelated hematopoietic cell transplantation.

HLA matching between the donor and recipient improves the success of unrelated hematopoietic cell transplantation (HCT). Matched donors are available for only a minority of patients. Further information is needed to evaluate the limits of HLA mismatching.

HLA matching and hematopoietic cell transplant outcome.

The development of accurate and reproducible high-resolution DNA-based HLA typing methods has significantly improved the prospects for identifying well-matched donors for patients undergoing HCT, particularly those who lack a matched relative to serve as donor. Analysis of high-resolution typing data has shown that donor-recipient compatibility for HLA alleles is an important predictor of transplant outcome. The risk of graft failure is increased by patient incompatibility for HLA alleles expressed by the donor, and by the presence of patient anti-donor alloantibody.

Killer Ig-like receptor haplotype analysis by gene content: evidence for genomic diversity with a minimum of six basic framework haplotypes, each with multiple subsets.

Killer Ig-like receptor (KIR) genes constitute a multigene family whose genomic diversity is achieved through differences in gene content and allelic polymorphism. KIR haplotypes containing a single activating KIR gene (A-haplotypes), and KIR haplotypes with multiple activating receptor genes (B-haplotypes) have been described. We report the evaluation of KIR gene content in extended families, sibling pairs, and an unrelated Caucasian panel through identification of the presence or absence of 14 KIR genes and 2 pseudogenes.

Major-histocompatibility-complex class I alleles and antigens in hematopoietic-cell transplantation.

Background: Successful engraftment of hematopoietic stem cells from unrelated donors is influenced by disparities between the donor and recipient for HLA-A, B, and C alleles. Disparities between HLA sequence polymorphisms that are serologically detectable are termed antigen mismatches, whereas those that can be identified only by DNA-based typing methods are termed allele mismatches. Whether both kinds of polymorphisms are important in transplantation is not known.

Genomics of unrelated-donor hematopoietic cell transplantation.

Unrelated-donor hematopoietic cell transplantation is a proven curative modality for hematologic malignancies. The success of unrelated-donor transplantation has been achieved through a better understanding of the immunobiology of the HLA system and through more precise and comprehensive matching of donors and recipients. The extensive polymorphism of HLA genes confers important biological implications affecting engraftment, graft-versus-host disease and overall survival.

Oxidation of electron-deficient anilines by HOF. A route to nitro-containing compounds for molecular electronic devices.

Nitroaromatic compounds for molecular electronic devices are prepared by the high-yielding oxidation of electron-deficient anilines using HOF generated in a fluorine-acetonitrile-water system.

HLA matching in hematopoietic cell transplantation.

Progress in hematopoietic cell transplantation has been greatly facilitated by our increasing knowledge of the HLA system, as well as by improved therapies for achieving sustained engraftment, preventing graft-versus-host disease, and protecting the patient from infection. Disparity for HLA genes can cause graft rejection and graft-versus-host disease and decrease survival in patients receiving grafts from both related and unrelated donors. The presence of patient alloantibodies against donor antigens demonstrated by a positive crossmatch is a strong risk factor for graft rejection.

Effect of HLA mismatches on the outcome of hematopoietic transplants.

Hematopoietic cell transplantation from unrelated volunteer donors for the treatment of hematological malignancy can be optimized by complete and precise matching for HLA class I and II alleles between the donor and recipient. Survival is improved when the donor and recipient are matched for HLA-A, -B, -C, -DRB, -DQB1 and -DPB1 alleles. The risks of clinically severe graft-versus-host disease, graft failure and mortality are increased in the presence of multilocus mismatching.