Genetic analysis for high temperature tolerance in bread wheat

Heat stress, characterised by a trend in average temperature increase during anthesis and grain filling, leads to forced maturity is one of the major constraints of wheat production in arid and, semiarid regions of the world. This study examined the nature and magnitude of gene action for yield and its contributing characters and some important heat tolerant parameters in bread wheat (Triticum aestivum l em. thell) to determine breeding strategies for future breeding programmes. Twelve lines and four testers were crossed in an L x T mating design. The 48 crosses and their parents were raised under normal (21, November 2002) and late sown (1, January 2003) seasons at the Experimental Farm of Rajasthan College of Agriculture, Udaipur in India. Lines K’sona, DWR 195, C 306 and K 9708 were found to be good combiners for different heat tolerant parameters along with grain yield. Combinations of Raj 3077 x Kailash under normal (E1) and late sown (E2), C 306 x PBN 51 (E1) and C 306 x HD 2189 (E2) for grain yield; had high sca effect. The crosses viz., K 9708 x PBN 51 for proline content and heat injury, DWR 195 with HD 2189, and C 306 with Kailash for heat injury had desirable significant sca effects. The other crosses, HD 2329 x Kailash for pollen viability, and Raj 3765 x Kailash for chlorophyll content, were the best specific combiners. Parents like C 306, K’sona, DWR 195, K 9708, Raj 3077, PBN 51 and Kailash could be utilised in multiple crossing programmes and further biparental matting for selection of high yielding progenies for heat tolerance

Prevalence of Hypertension and Association of Obesity with Hypertension in School Ggoing Children of Surat City, Western India.

Purpose: The association of obesity with hypertension has been recognized for the decades which are the important risk factors for the cardiovascular disease. So the purpose of the present study was to determine association of obesity with hypertension in school going children of Surat. Methodology: School going children aged between 12-18 years, of five schools in Surat were selected for the study. Height and weight were measured and BMI was calculated. Blood pressure measurements were taken as per recommendation of American heart society and family history of hypertension has also been assessed. Hypertension was considered if blood pressure is more than 95th percentile according to the update of task force report and Obesity was diagnosed by BMI for age. Results: Of 682 children, 8.94% were obese and 20.09% were hypertensive. Conclusion: Obesity is strongly associated with hypertension in children and both together may risk factors for later coronary disease

Trends in the availability and usage of electrophysical agents in physiotherapy practices from 1990 to 2010: A review

This is the Pre-print version of the Article. The official published version can be accessed from the link below - Copyright @ 2012 Maney PublishingBackground: The use of electrophysical agents has a historically important role in physiotherapy practice. There are anecdotal reports that the availability and usage of electrotherapy modalities are declining, which may have implications for physiotherapy practice. The aim of this literature review was to provide scientific evidence on electrotherapy usage in the last 20 years by identifying trends in availability, use, and non-use of nine electrotherapeutic modalities in physiotherapy practices during 1990s and 2000s. Methods: Review of empirical studies published in the English language from 1990 to 2010 and identified through searching online bibliographic databases, which included: Medline/OvidSP, PubMed Central, CINAHL/EBSCOhost, ScienceDirect, Scopus, ISI Web of Science, and Google Scholar. Findings: In the last 20 years, ultrasound availability and usage show increasing trends in several countries. The availability and use of pulsed shortwave diathermy and laser have shown steady trends. Transcutaneous electrical nerve stimulation, interferential, and biofeedback availability and usage have shown increasing trends in the UK and decreasing trends in Australia and the Republic of Ireland. Trends of continuous shortwave diathermy availability and use are declining irrespective of the country of the study. The availability and usage of microwave diathermy and H-wave show steeply declining trends, while there is a sharp rise in their non-availability over the last several years. Conclusions: The availability and use of electrophysical agents have greatly changed in the last 20 years. Declining trends in the availability and usage along with increasing trend of non-availability of electrotherapy modalities may have implications for electrotherapy education, training, and practice in the coming years.This study was funded by Health & Safety Executive, UK (grant no. 4371/R47.022)

Staphylococcus aureus skin and soft-tissue infections at a tertiary hospital in Botswana

Objectives. To study the epidemiology of Staphylococcus aureus skin and soft-tissue infections (SSTIs) in hospitalised children and adults in Gaborone, Botswana, and to describe the changes in antimicrobial susceptibilities of S. aureus isolates over time. Methods. A retrospective cohort study evaluated SSTI isolates from January 2000 to December 2007 at Princess Marina Hospital (PMH), a large tertiary referral centre in Gaborone. Eligible subjects were those hospitalised at PMH during the study period who had a skin or soft-tissue culture yielding a bacterial or fungal pathogen. The primary outcome measure was a skin or soft-tissue culture yielding S. aureus. Secondary outcomes were the organism’s antimicrobial susceptibilities. Results. S. aureus was detected in 857 (35.8%) of single-organism SSTI cultures, and 194 (22.6%) of these isolates were methicillin resistant (MRSA). The proportion of MRSA isolates increased over time (linear test of trend: p=0.03 from 2000 to 2003), and MRSA isolates were more likely than methicillin-susceptible isolates to be resistant to commonly used antimicrobials recommended by the national SSTI treatment guideline. Conclusions. We report a high and increasing proportion of MRSA SSTIs in Gaborone. This high rate of MRSA resistance to currently recommended empiric antibiotics for SSTIs dictates the need for revising national guidelines and ongoing prospective surveillance of SSTIs in this setting

First insights into the expression of VAX2 in humans and its localization in the adult primate retina

VAX2 is a transcription factor specifically expressed in the ventral region of the prospective neural retina in vertebrates and is required for ventral eye specification. Despite its extensive analysis in vertebrates, the biological role of VAX2 in the human is presently unclear. This study was undertaken to investigate VAX2 in humans aiming to gain new knowledge into its involvement in retinal function. Here, we report VAX2 gene expression and protein localization in cultured cells and adult retina. RT-PCR experiments indicated that VAX2 is enriched in neuronal tissues. Moreover, we identified a novel isoform most abundantly expressed in the retina. We termed the known transcript (NM_012476) isoform-1, and the newly identified transcript as isoform-2. Analysis of protein localization in cultured cells revealed that isoform-1 localizes to the nucleus and isoform-2 is widely expressed within the cell; partial co-localization of isoform-2 and actin filaments was also observed. In nonhuman primate retina VAX2 was seen either in the nuclear or in the cytoplasmic compartment depending on the retinal cell type. In addition, a noteworthy enrichment of the signal was observed in the outer segment of cone photoreceptors. Overall, this study provides the first insights into the expression of VAX2 in humans and its localization in the adult primate retina. Moreover, preliminary characterization of alternative variants suggests an involvement of VAX2 in multiple cellular pathways. Our findings raise the interesting possibility for further investigation of VAX2 in the retina in health and disease

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome

OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy. Hyperkinetic movements were often exacerbated by specific triggers, such as voluntary movement, intercurrent illnesses, emotion, and high ambient temperature, leading to hospital admissions. Most patients were resistant to drug intervention, although tetrabenazine was effective in partially controlling dyskinesia for 2/7 patients. Emergency deep brain stimulation (DBS) was life saving in 1 patient, resulting in immediate clinical benefit with complete cessation of violent hyperkinetic movements. Five patients had well-controlled epilepsy and 1 had drug-resistant seizures. Structural brain abnormalities, including mild cerebral atrophy and corpus callosum dysgenesis, were evident in 5 patients. One patient had a diffuse astrocytoma (WHO grade II), surgically removed at age 16. CONCLUSIONS: Our findings support the causative role of GNAO1 mutations in an expanded spectrum of early-onset epilepsy and movement disorders, frequently exacerbated by specific triggers and at times associated with self-injurious behavior. Tetrabenazine and DBS were the most useful treatments for dyskinesia

Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya

Background: The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a single genetic variant might underestimate the presence of true effects in the presence of unrecognized functional allelic diversity. Methods: We systematically examined this possibility in Kenya, conducting a fine-mapping association study of erythrocyte G6PD activity in 1828 Kenyan children across 30 polymorphisms at or around the G6PD locus. Results: We demonstrate a strong functional role for c.202G>A (rs1050828), which accounts for the majority of variance in enzyme activity observed (P=1.5 × 10-200, additive model). Additionally, we identify other common variants that exert smaller, intercorrelated effects independent of c.202G>A, and haplotype analyses suggest that each variant tags one of two haplotype motifs that are opposite in sequence identity and effect direction. We posit that these effects are of biological and possible clinical significance, specifically noting that c.376A>G (rs1050829) augments 202AG heterozygote risk for deficiency trait by two-fold (OR = 2.11 [1.12 - 3.84], P=0.014). Conclusions: Our results suggest that c.202G>A is responsible for the majority of the observed prevalence of G6PD deficiency trait in Kenya, but also identify a novel role for c.376A>G as a genetic modifier which marks a common haplotype that augments the risk conferred to 202AG heterozygotes, suggesting that variation at both loci merits consideration in genetic association studies probing G6PD deficiency-associated clinical phenotypes. </p

Long-Term Survival With Tafamidis in Patients With Transthyretin Amyloid Cardiomyopathy

BACKGROUND: Tafamidis is approved in many countries for the treatment of transthyretin amyloid cardiomyopathy. This study reports data on the long-term efficacy of tafamidis from an ongoing long-term extension (LTE) to the pivotal ATTR-ACT (Tafamidis in Transthyretin Cardiomyopathy Clinical Trial). METHODS: Patients with transthyretin amyloid cardiomyopathy who completed ATTR-ACT could enroll in an LTE, continuing with the same tafamidis dose or, if previously treated with placebo, randomized (2:1) to tafamidis meglumine 80 or 20 mg. All patients in the LTE transitioned to tafamidis free acid 61 mg (bioequivalent to tafamidis meglumine 80 mg) following a protocol amendment. In this interim analysis, all-cause mortality was assessed in patients treated with tafamidis meglumine 80 mg in ATTR-ACT continuing in the LTE, compared with those receiving placebo in ATTR-ACT transitioning to tafamidis in the LTE. RESULTS: Median follow-up was 58.5 months in the continuous tafamidis group (n=176) and 57.1 months in the placebo to tafamidis group (n=177). There were 79 (44.9%) deaths with continuous tafamidis and 111 (62.7%) with placebo to tafamidis (hazard ratio, 0.59 [95% CI, 0.44-0.79]; P<0.001). Mortality was also reduced in the continuous tafamidis (versus placebo to tafamidis) subgroups of: variant transthyretin amyloidosis (0.57 [0.33-0.99]; P=0.05) and wild-type transthyretin amyloidosis (0.61 [0.43-0.87]; P=0.006); and baseline New York Heart Association class I and II (0.56 [0.38-0.82]; P=0.003) and class III (0.65 [0.41-1.01]; P=0.06). CONCLUSIONS: In the LTE, patients initially treated with tafamidis in ATTR-ACT had substantially better survival than those first treated with placebo, highlighting the importance of early diagnosis and treatment in transthyretin amyloid cardiomyopathy. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT01994889 and NCT02791230