Alcohol use disorder and GABAB receptor gene polymorphisms in an Italian sample: haplotype frequencies,linkage disequilibrium and association studies

Background: Alcohol use disorder (AUD) is a complex trait with genetic and environmental influences. Several gene variants have been associated with the risk for AUD, including genes encoding the sub-units of the γ-aminobutyric acid (GABA) receptors.

Aim: This study evaluated whether specific single nucleotide polymorphisms (SNPs) in genes encoding GABA_B receptor sub-units can be considered as candidates for the risk of AUD.

Subjects and methods: Seventy-four AUD subjects and 128 Italian controls were genotyped for 10 SNPs in genes encoding GABA-B1 and GABA-B2 sub-units (GABBR1 and GABBR2). Allele, genotype, and haplotype frequencies were tested for the association with the AUD trait.

Results: A significant difference between AUD individuals and controls was observed at genotype level for rs2900512 of GABBR2 gene. The homozygous T/T genotype was not found in the controls, whereas it was over-represented in the AUD individuals. Under the recessive model (T/T vs C/T?+?C/C) this result was statistically significant, as well as the Odds Ratio for the association with the AUD trait.

Conclusions: The results provide preliminary data on the association between GABA_B receptor gene variation and risk of AUD. To confirm this finding, studies with larger samples and additional characterisation of the phenotypic AUD trait are required.     

Report on World Workshops on Oral Medicine (WWOM) IV and V: research themes and citation impact

The first World Workshop on Oral Medicine (WWOM) was held in 1988. The portfolio has continued to expand in scope and impact over the past 26 years. Five World Workshops were conducted between 1988 and 2010, focusing on creation of systematic reviews in biomedicine and health care of importance to the international oral medicine community. WWOM VI was conducted in April 2014 and further extended this modeling. This most recent Workshop also fostered creation of the inaugural joint meeting between the American Academy of Oral Medicine and the European Association of Oral Medicine, together with The British Society for Oral Medicine and the Oral Medicine Academy of Australasia. The goal of the WWOM portfolio is to strategically enhance international oral medicine research, education, and clinical practice. To this end, this report summarizes subject areas for WWOM IV (2004) and research recommendations for WWOM V (2010), as well as citation metrics relative to publications from these two conferences. The information is designed to provide research and clinical context for key issues in oral medicine as delineated by the WWOM portfolio over the past 10 years, as well as for projected outcomes of WWOM VI over the next 12 months.     

The isolation of human platelet factor V [published erratum appears in Blood 1987 Jul;70(1):339]

Human platelet factor V has been isolated using either a monoclonal or polyclonal antibody directed against human plasma factor V. The largest peptide observed upon sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) analysis of purified human platelet factor V comigrates with purified human plasma factor V. However, a significant portion of the isolated protein is represented by peptides of lower apparent molecular weight (Mr). These lower Mr species that copurify with platelet factor V have been shown to be platelet factor V components by their immunological cross-reactivity with monoclonal and polyclonal antibodies to purified human plasma factor V. Platelets isolated from whole blood drawn directly into inhibitors to prevent proteolysis and platelet activation demonstrate the pattern of fragmented platelet factor V. The components of purified platelet factor V demonstrate apparent Mr ranging between 115 K and 330 K and are detectably different from the intermediates and end products observed during the thrombin cleavage of single-chain plasma factor V. Upon treatment with thrombin the platelet factor V components are cleaved and the end products are indistinguishable from those obtained upon thrombin activation of plasma factor V to plasma factor Va. Examination of the components by immunoblotting demonstrates that some of the cleavages which have occurred in the platelet factor V molecule are within the 150-K activation peptide. Bioassay indicates that platelet factor V exists as a procofactor and cleavage by thrombin yields the active cofactor, platelet factor Va. These data suggest that human platelet factor V is stored in the platelet as a partially fragmented procofactor that can be activated by thrombin to yield human platelet factor Va, the active cofactor in the human prothrombinase complex.     

Cachexia in patients with rheumatoid arthritis: a cohort study

Clinical Rheumatology - Rheumatoid arthritis (RA) is an inflammatory disease that leads to altered body composition. The loss of lean mass with a preservation or increase in fat mass has been...     

A special case of congenital adrenal hypoplasia and acute bilateral infantile striatal necrosis

Isolated mineralocorticoid deficiency is described in a 5-week-old boy. The deficiency progressed to general adrenal insufficiency during the boy's first year of life. The family history suggested X-linked inheritance. At 18 months of age the patient developed acute bilateral infantile striatal necrosis, which might suggest a possible relationship between both entities. Adrenal hypoplasia, child, striatal necrosis
C. K. van der Ent, Wilhelmina Children's Hospital, University Hospital for Children and Youth, PO Box 18009, 3501 CA Utrecht, The Netherlands     

Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria

We administered measures of cognitive, frontal lobe (executive), behavioral and motor functioning to 18 children with classical phenylketonuria, aged 12–101 months, in order to determine the relationship of age, current and lifetime average phenylalanine levels, and individual variation (standard deviation of lifetime average levels) to these functions. On measures of cognitive function, in children ≥ 3 y of age lower current phenylalanine levels were associated with higher cognitive functioning. On a behavioral temperament scale designed for normal children, we found that higher current and average phenylalanine levels correlated with more difficult temperament. Motor function was also poorer in children with phenylketonuria, and was most impaired in children with current phenylalanine levels >360μmol/l. We also identified a previously unreported correlation between increased individual variation and poorer executive function performance, a finding that may raise new management concerns about level fluctuations. Maintenance of phenylalanine levels μ 360 μml/l may be necessary for optimal performance in children with phenylketonuria.     

Review Article Neurometrics, dynamic brain imaging and attention deficit hyperactivity disorder

Objective: : The literature on the development of frequency analysis of the electroencephalogram (neurometrics) and functional dynamic brain imaging techiques is reviewed. Clinical applications in the diagnosis and treatment of learning disorders of childhood are discussed.
Conclusions While questions remain about the sensitivity and specificity of the neurometric method in diagnosing attention deficit hyperactivity disorder (ADHD), if the technique proved predictive of medication response, its importance would be established. However, evoked-potential studies, cerebral blood flow and cerebral glucose metabolic studies promise a better understanding of underlying psychological processes in ADHD.