Genetic heterogeneity in ADHD:DAT1gene only affects probands without CD

Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD.

Previous studies have found heterogeneous association between DAT1-3'-UTR-VNTR and attention deficit hyperactivity disorder (ADHD). Various proportions of conduct disorder (CD) comorbidity in their ADHD samples may partially explain the observational discrepancies. Evidence for this comes from family and twin studies which found ADHD probands with CD (ADHD + CD) are genetically different from t...

Functional Heterogeneity in the CD 4 Edward

Malignant hyperthermia testing in probands without adverse anesthetic reaction.

BACKGROUND Malignant hyperthermia (MH) is triggered by reactions to anesthetics. Reports link nonanesthetic-induced MH-like reactions to a variety of disorders. The objective of the authors was to retrospectively investigate the reasons for referrals for MH testing in nonanesthetic cases and assess their phenotype. In addition, the response to the administration of oral dantrolene in nonanesthe...

ONLINE MEDICAL GENETICS IN PRACTICE Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics

Genetic register services incorporating long term follow up and a proactive approach to at risk subjects have been recommended as a way of improving access to genetic counselling for families with dominant or X linked genetic disorders and chromosome translocations. The aims of the present study were to evaluate the psychosocial benefits and drawbacks of long term family contact, and to evaluat...

First genetic analysis in Tunisian familial adenomatous polyposis probands.

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. The APC gene (adenomatous polyposis coli) is considered as the major mutated gene in FAP. It has been shown that biallelic germline mutations in the base-excision-repair gene MYH can be responsible for a recessive in...