Adiponectin SNP45TG is associated with gestational diabetes mellitus

INTRODUCTION: Diabetes and pregnancy can be associated in two ways: pregnancy that occurs in women who are already diabetic (diabetes of pre-gestational origin); and diabetes that occur in women who are already pregnant [gestational diabetes mellitus (GDM) (O'sullivan 1961)]. Patients with previous GDM history have higher risk of developing diabetes outside of pregnancy. Accumulating literature had suggested that adiponectin plays a role in the pathophysiology of this metabolic syndrome, and several of the common single nucleotide polymorphisms (SNP) in adiponectin gene have been identified in type 2 diabetes. Thus, one of the commonly found SNP was studied to determine its association with GDM. OBJECTIVE: To identify the association of SNP45TG with GDM. METHODS: This is a cross-sectional study involving pregnant mothers of <18 gestational weeks, who were recruited from three local antenatal clinics in Selangor, Malaysia. Their genomic DNA was extracted from EDTA treated whole blood using commercialized kit. Adiponectin gene was amplified through conventional PCR and SNP was detected using restriction enzyme SmaI. Plasma adiponectin level, fructosamine level and HbA(1c) percentage were also examined. RESULTS: Among the 79 antenatal patients recruited, 53 patients were normal and 26 were diagnosed with GDM. Among the 53 normal patients, 18 carry TG/GG genotype. Meanwhile, among the 26 patients that were diagnosed with GDM 15 carry TG/GG genotype. Significant association was found between SNP45TG with GDM ( χ(2) = 4.038; P < 0.05). In addition, normal patients with TT genotype have significantly higher plasma adiponectin level compared to other groups. CONCLUSION: We concluded that SNP45TG in adiponectin gene is associated with the occurrence of GDM

Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice

Trichothiodystrophy (TTD) is a rare, autosomal recessive nucleotide excision repair (NER) disorder caused by mutations in components of the dual functional NER/basal transcription factor TFIIH. TTD mice, carrying a patient-based point mutation in the Xpd gene, strikingly resemble many features of the human syndrome and exhibit signs of premature aging. To examine to which extent TTD mice resemble the normal process of aging, we thoroughly investigated the bone phenotype. Here, we show that female TTD mice exhibit accelerated bone aging from 39 weeks onwards as well as lack of periosteal apposition leading to reduced bone strength. Before 39 weeks have passed, bones of wild-type and TTD mice are identical excluding a developmental defect. Albeit that bone formation is decreased, osteoblasts in TTD mice retain bone-forming capacity as in vivo PTH treatment leads to increased cortical thickness. In vitro bone marrow cell cultures showed that TTD osteoprogenitors retain the capacity to differentiate into osteoblasts. However, after 13 weeks of age TTD females show decreased bone nodule formation. No increase in bone resorption or the number of osteoclasts was detected. In conclusion, TTD mice show premature bone aging, which is preceded by a decrease in mesenchymal stem cells/osteoprogenitors and a change in systemic factors, identifying DNA damage and repair as key determinants for bone fragility by influencing osteogenesis and bone metabolism

Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning

Our views: anybody listening? Researching the views and needs of young people in Co. Kildare.

This report by Dr. Kevin Lalor & Dr. Katie Baird of the Centre for Social and Educational Research, Dublin Institute of Technology describes the results of a survey of 988 adolescents in Co. Kildare, carried out between December 2004 and February 2005. The sample was drawn from First Year, Third Year and Sixth Year students in 25 of the 29 secondary schools in the County and participants at the three CTC/Youthreach Centres in Co. Kildare. The research was commissioned by Kildare Youth Services and the aim was to give young people a voice in the provision of services; specifically, to explore and identify what young people have to say about community facilities, leisure activities, worries and concerns and sources of support