Positional cloning of a gene involved in hereditary multiple exostoses

Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different EXT loci on chromosomes 8q (EXT1), 11p (EXT2) and 19p (EXT3) have been reported, and recently the EXT1 gene was identified by positional cloning. To isolate the EXT2 gene, we constructed a contig of yeast artificial chromosomes (YAC) and P1 clones covering the complete EXT2 candidate region on chromosome 11p11-p12. One of the transcribed sequences isolated from this region corresponds to a novel gene with homology to the EXT1 gene, and harbours inactivating mutations in different patients with hereditary multiple exostoses. This indicates that this gene is the EXT2 gene. EXT2 has an open reading frame encoding 718 amino acids with an overall homology of 30.9% with EXT1, suggesting that a family of related genes might be responsible for the development of EXT.      

Risk factors for under-nutrition among children aged one to five years in Udupi taluk of Karnataka,India: A case control study

Background

Despite her apparent economic success, India is plagued by a high burden of under-nutrition among children under five. This study was aimed at understanding some of the risk factors for under-nutrition in a region with favourable maternal and child health indicators.

Method

A case control study was carried out among children aged one to five years attending the paediatric outpatient department in six rural health care centres in Udupi taluk of Karnataka in Southern India. A total of 162 children were included in the study, of which 56 were cases. A semi-structured questionnaire was used to interview the caregivers of the children and the nutritional status was graded according to the Indian Academy of Paediatrics (IAP) grading of protein-energy malnutrition.

Results

Under-nutrition was associated with illness in the last one month [OR– 4.78 (CI: 1.83 –12.45)], feeding diluted milk [OR–14.26 (CI: 4.65 – 43.68)] and having more than two children with a birth interval ≤2 years [OR– 4.93 (CI: 1.78 – 13.61)]. Lack of exclusive breast feeding, level of education of the caregiver and environmental factors like source of water did not have an association.

Conclusion

Childhood illness, short birth interval and consumption of diluted milk were some of the significant contributory factors noted among this population. Information, Education, Communication (IEC) campaigns alleviating food fads and promoting birth spacing is needed.     

已酮可可碱减少糖尿病肾病蛋白尿的作用

已酮可可(pentoxifyline,PTX)是一种非选择性的磷酸二酯酶掏剂.从上个世纪的70年代起,作为血管扩张剂用于冶疗间歇性跛行,后推广于动硬化、血栓形成、血管栓塞、糖尿病肾病变等箅管疾病.     

The life and health challenges of young Malaysian couples: results from a stakeholder consensus and engagement study to support non-communicable disease prevention

Background

Malaysia faces burgeoning obesity and diabetes epidemics with a 250% and 88% increase respectively between 1996 and 2006. Identifying the health challenges of young adults in Malaysia, who constitute 27.5 % of the population, is critical for NCD prevention. The aim of the study was two-fold: (1) to achieve consensus amongst stakeholders on the most important challenge impacting the health of young adults, and (2) to engage with stakeholders to formulate a NCD prevention framework.

Methods

The Delphi Technique was utilised to achieve group consensus around the most important life and health challenges that young adults face in Malaysia. Subsequently, the results of the consensus component were shared with the stakeholders in an engagement workshop to obtain input on a NCD prevention framework.

Results

We found that life stress was a significant concern. It would seem that the apathy towards pursuing or maintaining a healthy lifestyle among young adults may be significantly influenced by the broader distal determinant of life stress. The high cost of living is suggested to be the main push factor for young working adults towards attaining better financial security to improve their livelihood. In turn, this leads to a more stressful lifestyle with less time to focus on healthier lifestyle choices.

Conclusions

The findings highlight a pivotal barrier to healthier lifestyles. By assisting young adults to cope with daily living coupled with realistic opportunities to make healthier dietary choices, be more active, and less sedentary could assist in the development of NCD health promotion strategies.