Kashmiris phylogenetic depictions through uniparental and biparental genetic markers

International Journal of Legal Medicine - In this study, the Kashmiri population was genetically screened for fifteen autosomal STRs, seventeen Y-chromosomal STRs and mitochondrial DNA control...     

Managing Crohn disease in children and adolescents : focus on tumor necrosis factor antagonists

Crohn disease (CD) is a chronic inflammatory disorder of the gastrointestinal tract characterized by a relapsing course and variable presentation that often includes abdominal pain, diarrhea, and fatigue. CD frequently presents during childhood, resulting in pediatric-specific complications, such as growth failure and delayed puberty. Conventional drug therapy for moderate to severe pediatric CD includes induction of remission with corticosteroids, and maintenance of remission with immunomodulators. Patients who have an inadequate response to standard therapy are being increasingly treated with anti-tumor necrosis factor-alpha (TNFalpha) agents. Infliximab has been the most widely studied anti-TNFalpha agent in pediatric CD, and has been shown to be efficacious in this condition. Adalimumab has been proven to be efficacious in adults with CD, but there has been only a single case report in children. CDP571 has been tested in 20 children with CD, showing some efficacy. Finally, thalidomide therapy has been associated with improvement in two small case series. Toxicities of these agents include infusion reactions, infections, malignancies, neurologic disorders, and hematologic derangements.     

Consanguinity: A blessing or menace at population level?

Consanguinity has highly complex and multifaceted aspects with sociocultural as well as biological debates on its pros and cons. The biological upshot of consanguinity includes the increased homozygosity, which results in manifold increased risk of genetic disorders at family and population levels. On the other hand, in addition to social, cultural, political, and economic benefits, consanguineous marriages have biological advantages at the population level. The consequence of consanguineous marriages is an upsurge in the number of homozygous diseased individuals with fewer chances of mating and reduced chances of survival, therefore evolutionarily confining the transmission of disease alleles to future generations and encouraging its elimination from a population. Protective effects of consanguinity have also been observed in a few diseases in different populations. Although attractive for many reasons, nonconsanguineous marriages will cause risk alleles to spread throughout the population, making most individuals carriers, and ultimately will resume the production of recessive diseases in subsequent generations. Although consanguinity, from an evolutionary point of view, is beneficial at the population level, it increases the risk of diseases in the very next generation. Presently, there is no treatment for most of the genetic disorders; we cannot opt for consanguinity for long‐term benefits. Nonconsanguineous marriages are a better strategy by which we may delay disease manifestation for some generations until science offers a viable solution.     

Childhood Nutrition

Objective: The major aim of this trial was to evaluate the potential interaction of fresh or pasteurized yoghurt intake with lactose intolerance on calcium assimilation by means of the stable isotope ⁴³Ca as a tracer.

Methods: Forty volunteers (age: 32 ± 7 years) participated in this parallel simple blind study (20 of them with moderate lactose intolerance). The protocol included the intake of a test meal consisting on ⁴³Ca-labelled fresh or pasteurized yoghurt. Volunteers, in whom the calcium status was assessed, collected the 24-h urine before and after the test meal to measure the stable isotope output. The intake-related ⁴³Ca enrichment in urine was measured by isotopic rate mass spectrometry.

Results: In lactose tolerant and intolerant volunteers taken together, the fresh yoghurt consumption resulted in a statistically higher circulating calcium levels (p = 0.028) and urinary ⁴³Ca output (p = 0.017) than after the pasteurized yoghurt intake. The lactose maldigestion status resulted in higher urinary ⁴³Ca excretion (p = 0.013) after the fermented milk consumption, regardless of the nature of ingested product (p = 0.887).

Conclusions: This novel and non-aggressive protocol allowed the in vivo comparison of calcium utilization from two different dairy sources, revealing a higher acute calcium assimilation from fresh as compared to the pasteurized yoghurt, in both lactose digesting and maldigesting subjects.     

The prevalence of low sex steroid hormone concentrations in men in the Third National Health and Nutrition Examination Survey (NHANES III)

Background Physiologic processes during ageing leading to multi‐morbidity and diseases that increase risk of premature death may be influenced by ageing‐associated changes in endogenous hormone production. Objective To evaluate the decline in sex steroid hormone levels across age and estimate the number of US men 40+ years old who may have low hormone levels. Design We measured serum testosterone, oestradiol and sex hormone binding globulin by immunoassay in 1351 men 20+ years old in Third National Health and Nutrition Examination Survey. We estimated free hormones by mass action. Results Free testosterone declined most rapidly with age (a 2% decline in geometric mean concentration occurred after ageing 1·3 years), followed by total testosterone (2·4 years), free oestradiol (4·1 years) and total oestradiol (8·1 years). These hormone changes with age translated into 25·0% and 30·2% of men 70+ years old having low total (which we defined as <10·4 nm ) and free (<0·17 nm ) testosterone, respectively, and 8·3% and 23·9% having low total (<73·4 pm ) and free (<2·2 pm ) oestradiol. Using population size projections between the 2000 and 2010 Censuses, we estimated that 8·4 (95% CI 4·7–12·2), 6·2 (3·1–9·2) and 6·0 (3·1–9·0) million men 40+ years old may have low total testosterone, free testosterone and free oestradiol, respectively. The prevalences were only modestly lower in men without prevalent chronic diseases. Conclusion Although no consensus exists for defining low hormone levels in ageing men, a substantial number of US men may have low sex steroid hormone levels, possibly putting them at risk for adverse health consequences and premature death.     

Global aphasia without hemiparesis: A case series

Background:

Global aphasia without hemiparesis (GAWH) is a rare stroke syndrome characterized by the unusual dissociation of motor and language functions. Issues regarding its etio-pathogenesis, lesion sites, and recovery patterns are extensively being debated in contemporary neuroscience literature.

Materials and Methods:

Four patients admitted in our hospital between 2005 and 2009 with GAWH caused by ischemic stroke were studied retrospectively with emphasis on number and site of lesions, etiology, and recovery patterns.

Results:

The clinical findings from our subjects showed that GAWH could result from either single/multiple lesions including subcortical lesions. The recovery was rapid, although not complete. One case evolved into Wernicke''s aphasia as seen in earlier studies. Two subjects revealed evolution to transcortical sensory aphasia and one to Broca''s aphasia which is distinct from previous proposals. Two cases showed lack of clinico-anatomic correlation during recovery.

Conclusions:

GAWH could result from both embolic and large vessel strokes and single or multiple lesions. The recovery pattern may be variable and may show lack of clinico-anatomical correlation indicating anomalous cerebral functional reorganization, questioning the conventional teaching of language representation in the brain.     

Can simvastatin improve erectile function and health‐related quality of life in men aged >40 years with erectile dysfunction? Rationale and design of the Erectile Dysfunction and Statins (EDS) Trial [ISRCTN66772971]1

What’s known on the subject? and What will the study add? Erectile dysfunction is often associated with endothelial dysfunction. It is also recognized as a marker for underlying vascular disease. This study tests the hypothesis that statin therapy may improve erectile function and also reduce the risk of future cardiovascular events via a reduction in serum cholesterol and by improving endothelial function. The study will also determine whether the treatment improves quality of life related to sexual function.

OBJECTIVE

? To describe the rationale and design of the Erectile Dysfunction and Statins (EDS) Trial which aims to evaluate the effectiveness of simvastatin on erectile function and health‐related quality of life in men aged ≥40 years with erectile dysfunction.

PATIENTS AND METHODS

? The study is a randomized, double‐blind, placebo‐controlled trial to test the hypotheses that statins improve endothelial function and reduce cholesterol and may improve erectile function in men with untreated erectile dysfunction (ED). ? Study subjects are men ≥40 years who are not receiving lipid‐lowering or anti‐hypertensive medication and have no other cardiovascular disease (CVD) risk factors. ? Eligible men with untreated ED are randomized to double‐blind treatment with 40 mg simvastatin or placebo once daily for 6 months. ? Data are collected at baseline, mid‐trial and at the final follow‐up visit at 30 weeks. ? The main outcome is erectile function measured by the five‐item version of the International Index of Erectile Function. Secondary outcomes include sexual‐health‐related quality of life and endothelial function.

RESULTS

? Ten general practices have been recruited in the east of England. ? We have randomized 173 men for a power of 90% to assess the main outcome. ? To date there have been no serious unexpected adverse events. ? Study findings will be available in September 2011.

CONCLUSION

? If simvastatin improves erectile function it would provide an inexpensive treatment for ED suitable for most men, and reduce the risk of future CVD.