Genetic factors for nerve susceptibility to injuries – lessons from PMP22 deficiency

Genetic factors may be learnt from families with gene mutations that render nerve-injury sus- ceptibility even to ordinary physical activities. A typical example is hereditary neuropathy with liability to pressure palsies （HNPP）. HNPP is caused by a heterozygous deletion of PMP22 gene. PMP22 deficiency disrupts myelin junctions （such as tight junction and adherens junctions）, leading to abnormally increased myelin permeability that explains the nerve susceptibility to injury. This finding should motivate investigators to identify additional genetic factors contribut- ing to nerve vulnerability of injury.

Pelvic Organs Prolapse in Low-Resources Countries: Epidemiology, Risk Factors, Quality of Life. Narrative Review

Objective: Pelvic organ prolapse is an emerging public health problem affecting adult women of all ages with a negative impact on social, physical well-being, and psychological. Its presents several challenges in countries with low resources. This literature review aims to examine POP in its epidemiological aspects, risk factors, and staging by taking up the challenges associated with low-resource settings and identifying some avenues for future research. Methods: We searched the PubMed, Google Scholar, and Scopus databases. The other studies were identified by checking the secondary references in the original citation. We have collected studies on adult women published in English for the last 30 years. In total, 71 articles were read. We excluded studies from all newspaper articles, Studies presenting co-morbidities (fistulas, cervical cancer, pregnancy), those evaluating treatment, letters, comments, case reports, practice guidelines, news, historical articles, legal cases, published erratum, and congresses. Results: 16 studies examining the epidemiology have been identified with 11 in countries defined by the World Bank as limited or intermediate resources. 18 on risk factors whose 10 in countries with limited or intermediate resources, 10 on staging and 27 on physiopathology. Conclusion: POP affects the young more in low-resource settings. Its prevalence remains underestimated for several reasons. Several risk factors found are the same as those of women in countries with a high standard of living. However, there are some specific risk factors for these resource-limited settings.

Genome-wide association studies:Where we are heading?

wide association studies(GWAS)in recent years.Since the identification of variants in the complement factor H gene on the risk of age-related macular degeneration,GWAS have become ubiquitous in genetic studies and have led to the identification of genetic variants that are associated with a variety of complex human diseases and traits.These discoveries have changed our understanding of the biological architecture of common,complex diseases and have also provided new hypotheses to test.New tools,such as next-generation sequencing,will be an important part of the future of genetics research;however,GWAS studies will continue to play an important role in disease gene discovery.Many traits have yet to be explored by GWAS,especially in minority populations,and large collaborative studies are currently being conducted to maximize the return from existing GWAS data.In addition,GWAS technology continues to improve,increasing genomic coverage for major global populations and decreasing the cost of experiments.Although much of the variance attributable to genetic factors for many important traits is still unexplained,GWAS technology has been instrumental in mapping over a thousand genes to hundreds of traits.More discoveries are made each month and the scale,quality and quantity of current work has a steady trend upward.We briefly review the current key trends in GWAS,which can be summarized with three goals:increase power,increase collaborations and increase populations.

Age- and gender-dependent obesity in individuals with 16pl1.2 deletion

Recurrent genomic imbalances at 16p 11.2 are genetic risk factors of variable penetrance for developmental delay and autism.Recently, 16pl 1.2（chr16：29.5 Mb-30.1 Mb） deletion has also been detected in individuals with early-onset severe obesity.The penetrance of 16p11.2 deletion as a genetic risk factor for obesity is unknown.We evaluated the growth and body mass characteristics of 28 individuals with 16p11.2 （chr16：29.5 Mb-30.1 Mb） deletion originally ascertained for their developmental disorders by reviewing their medical records.We found that nine individuals could be classified as obese and six as overweight.These individuals generally had early feeding and growth difficulties,and started to gain excessive weight around 5-6 years of age.Thirteen out of the 18 deletion carriers aged 5 years and older（72%） were overweight or obese,whereas only two of 10 deletion carriers（20%） younger than five were overweight or obese.Males exhibited more severe obesity than females.Thus,the obesity phenotype of 16p11.2 deletion carriers is of juvenile onset,exhibited an age- and gender-dependent penetrance. 16p11.2 deletion appears to predispose individuals to juvenile onset obesity and in this case are similar to the well-described Prader-Willi syndrome（PWS）.Early detection of this deletion will provide opportunity to prevent obesity.