Analyzing occupational heat stress using sensor-based monitoring: a wearable approach with environmental ergonomics perspective.

Occupational heat stress could impose a greater risk of heat-related morbidities among the exposed users, declining their work productivity and contributing to a financial burden. This necessitate the implementation of adequate preventive measures and control policies to improve the users' well-being and productive capacity. The emergence of modernistic sensors gives rise to workplace heat stress monitoring at a substantially lower cost than expensive conventional equipment. Present work unveils the productive role of sensor-based safety helmet, which could monitor the environmental variables, heat stress indices, and users' physiological variables as an indicator of heat strain. The proposed safety helmet was tested under three different work environments with users' engaged in specific work activities. Notable variations were perceived among the measured data under respective work conditions and physical activity performed. Higher heat risk exposures were attributable to the outdoor condition compared to indoor work conditions. For wet bulb globe temperature index, strong association (p-value < 0.01) was observed with fighter index of thermal stress (R 2-value = 0.959) followed by discomfort index (R 2-value = 0.899) and heat index (R 2-value = 0.867). Results revealed a rise in measured physiological parameters under the heavy workload activity (shoveling task; outdoor location) followed by hacksaw cutting task (indoor location), while least values were associated with light workload activity (drilling task; indoor location). The proposed design intervention could be considered an effective site-specific solution for monitoring heat stress exposures and keeping exposed users well aware of the prevalent thermal work conditions at the individual level.

Relationship between body mass index and percentage of body fat, estimated by bio-electrical impedance among adult females in a rural community of North India: A cross-sectional study.

Introduction: Body adiposity measured by percentage of body fat (BF%) is found to be better predictor of cardiovascular morbidity and mortality than body mass index (BMI). Limited information exists showing relationship between BMI and BF% in North Indian population. Objectives: To study the relationship between BMI and BF% among North Indian adult females across various age strata and level of BMI. Materials and Methods: This was a cross-sectional study conducted at Ballabgarh Health and Demographic Surveillance Site (HDSS) among randomly selected females. BMI using standard techniques and BF% using bioelectrical impedance analysis was estimated. Linear regression was performed using general linear model with BF% as dependent variable and BMI as main independent variable. Results: Mean (±2 SD) age of participants was 41.3 ± 15.7 years. Mean BMI (±SD) was 23.3 (±4.6) kg/m2, whereas mean fat mass (±2 SD) and BF% (±95% CI) was 19.2 (±7.9) kg and 33.6 (±6.9) %. BMI and BF% were highly correlated among obese (r = 0.77), whereas least correlated (r = 0.32) in underweight females. Across age strata, correlation between BMI and BF% was maximum in 18-35 years age group (r = 0.95), whereas least in females ≥56 years (r = 0.67). Age and BMI together predicted 73% of variability in BF% in hierarchical linear regression model. Conclusions: In this population, we have found strong correlation between BMI and BF% particularly at higher level of BMI and in younger females. There is need to conduct more robust prospective longitudinal studies to assess BF%, which is a better predictor of cardiovascular morbidity and mortality.

Satisfaction with Facial Appearance and Quality of Life after Treatment of Face Scars with a Transparent Facial Pressure Mask.

Treatment of facial hypertrophic scars and deformities has developed from the use of elastic fabric hoods to transparent facemasks. The clinical effects of these masks have been described. However, the psychological impact of wearing such a mask is not well documented. The aim of this study was to assess patients' satisfaction with their current facial appearance, to assess the end result of facemask therapy, and to assess the decision to have undergone facemask therapy by means of four different FACE-Q questionnaires. Out of the eligible 87 patients who completed the facemask therapy between January 2012 and November 2017, 42 filled out the questionnaires. These patients wore a custom-fabricated facemask because of facial hypertrophic scars and severe postsurgical facial irregularities. Patients who wore the mask 12 to 16 hours per day were significantly more satisfied with the end result compared with those who wore it 4 to 8 hours daily. Also, patients who wore the mask 8 to 12 and 12 to 16 hours each day were more satisfied to have undergone therapy compared with those who wore it 4 to 8 hours daily. Furthermore, patients who finished therapy 3 to 4 years and 4 to 5 years ago reported a significant higher satisfaction with facial appearance compared with those who completed therapy in a time period shorter than 1 year ago. Patients who finished therapy 3 to 4 years ago reported higher satisfaction with their facial appearance compared with those who finished therapy 2 to 3 years ago. Additionally, the Patient and Observer Scar Assessments Score (POSAS) showed a significant reduction between start and end of therapy. This study shows facemask therapy to result in long-lasting stable results. It also shows a longer daily wearing of the facemask to result in the highest satisfaction according to patients.

Accelerating wheat breeding for end-use quality with multi-trait genomic predictions incorporating near infrared and nuclear magnetic resonance-derived phenotypes.

KEY MESSAGE: Using NIR and NMR predictions of quality traits overcomes a major barrier for the application of genomic selection to accelerate improvement in grain end-use quality traits of wheat. Grain end-use quality traits are among the most important in wheat breeding. These traits are difficult to breed for, as their assays require flour quantities only obtainable late in the breeding cycle, and are expensive. These traits are therefore an ideal target for genomic selection. However, large reference populations are required for accurate genomic predictions, which are challenging to assemble for these traits for the same reasons they are challenging to breed for. Here, we use predictions of end-use quality derived from near infrared (NIR) or nuclear magnetic resonance (NMR), that require very small amounts of flour, as well as end-use quality measured by industry standard assay in a subset of accessions, in a multi-trait approach for genomic prediction. The NIR and NMR predictions were derived for 19 end-use quality traits in 398 accessions, and were then assayed in 2420 diverse wheat accessions. The accessions were grown out in multiple locations and multiple years, and were genotyped for 51208 SNP. Incorporating NIR and NMR phenotypes in the multi-trait approach increased the accuracy of genomic prediction for most quality traits. The accuracy ranged from 0 to 0.47 before the addition of the NIR/NMR data, while after these data were added, it ranged from 0 to 0.69. Genomic predictions were reasonably robust across locations and years for most traits. Using NIR and NMR predictions of quality traits overcomes a major barrier for the application of genomic selection for grain end-use quality traits in wheat breeding.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made. CONCLUSION: We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: • Osteoma cutis was not a known feature in Rothmund-Thomson patients. • Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: • RTS is a well-described syndrome caused by mutations in the RECQL4 gene. • Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). RESULTS AND CONCLUSIONS: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3' end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.

Influence of alcohol on condom use pattern during non-spousal sexual encounter in male migrant workers in north India.

CONTEXT: Migrant workers constitute an important risk group for Human Immunodeficiency Virus/Acquired Immuno-Deficiency Syndrome transmission in India. Alcohol consumption before sexual intercourse has been postulated to influence condom use practices. This study aimed to assess this association with regard to non-spousal sexual encounters among male migrant workers in northern India. MATERIALS AND METHODS: A cross-sectional facility-based survey was conducted in 2011. Male migrant workers aged ≥18 years, who were born outside Haryana, who had moved to the current location after 15 years of age,had worked in the current factory for at least 1 year, who were willing to participate and were able to give written, informed consent were included in the study. A consecutive sampling was performed. Descriptive, bivariate and multiple logistic regression analyses were carried out. RESULTS: A total of 162 participants reported having experienced non-spousal sexual encounters in the last 1 year. The proportion of men who reported not having used a condom at their last non-spousal sexual encounter was 59.3%, and 78.4% of the men reported having consumed alcohol in the last 1 year. About 48.1% of men reported having consumed alcohol before their last non-spousal sexual encounter. Men who consumed alcohol were three times more likely to not use a condom at their last non-spousal sexual encounter (OR = 3.1, 95% CI: 1.5-6.4). This association persisted even after adjusting for relevant confounders. CONCLUSION: Alcohol consumption had a negative influence on condom use during non-spousal sexual encounter among male migrant workers. An integrated approach to promote condom use and reduce alcohol consumption among migrant men needs to be undertaken through targeted intervention strategies.

Rapid detection of drug resistance and mutational patterns of extensively drug-resistant strains by a novel GenoType® MTBDRsl assay.

BACKGROUND: The emergence of extensively drug-resistant tuberculosis (XDR-TB) is a major concern in the India. The burden of XDR-TB is increasing due to inadequate monitoring, lack of proper diagnosis, and treatment. The GenoType ® Mycobacterium tuberculosis drug resistance second line (MTBDRsl) assay is a novel line probe assay used for the rapid detection of mutational patterns conferring resistance to XDR-TB. AIM: The aim of this study was to study the rapid detection of drug resistance and mutational patterns of the XDR-TB by a novel GenoType ® MTBDRsl assay. MATERIALS AND METHODS: We evaluated 98 multidrug-resistant (MDR) M. tuberculosis isolates for second line drugs susceptibility testing by 1% proportion method (BacT/ALERT 3D system) and GenoType ® MTBDRsl assay for rapid detection of conferring drug resistance to XDR-TB. RESULTS: A total of seven (17.4%) were identified as XDR-TB by using standard phenotypic method. The concordance between phenotypic and GenoType ® MTBDRsl assay was 91.7-100% for different antibiotics. The sensitivity and specificity of the MTBDRsl assay were 100% and 100% for aminoglycosides; 100% and 100% for fluoroquinolones; 91.7% and 100% for ethambutol. The most frequent mutations and patterns were gyrA MUT1 (A90V) in seven (41.2%) and gyrA + WT1-3 + MUT1 in four (23.5%); rrs MUT1 (A1401G) in 11 (64.7%), and rrs WT1-2 + MUT1 in eight (47.1%); and embB MUT1B (M306V) in 11 (64.7%) strains. CONCLUSIONS: These data suggest that the GenoType ® MTBDRsl assay is rapid, novel test for detection of resistance to second line anti-tubercular drugs. This assay provides additional information about the frequency and mutational patterns responsible for XDR-TB resistance.

Trends of anti-tuberculosis drug resistance pattern in new cases and previously treated cases of extrapulmonary tuberculosis cases in referral hospitals in northern India.

BACKGROUND: Drug-resistant tuberculosis is one of major current challenges to global public health. The transmission of resistant strains is increasing as a burden of multidrug-resistant tuberculosis (MDR-TB) patients in extra pulmonary tuberculosis (EPTB) cases in India. AIM AND OBJECTIVES: The aim was to study trends of anti-tuberculosis drug resistance pattern in new cases and previously treated cases of EPTB in referral hospitals in northern India. STUDY DESIGN AND SETTING: A prospectively observational study and referral medical institutions in northern India. MATERIALS AND METHODS: All EPTB specimens were processed for Ziehl Neelsen staining, BACTEC culture and BACTEC NAP test for Mycobacterium tuberculosis complex. All M. tuberculosis complex isolates were performed for radiometric-based drug susceptibility pattern against streptomycin, isoniazid, rifampicin and ethambutol using the 1% proportion method. RESULTS: We found that 165/756 (20.5%) isolates were identified as M. tuberculosis complex by the NAP test. We observed that 39.9% were resistant to first-line antitubercular drugs. The resistance rate was higher in previously treated patients: H (30.3%), R (16.3%), E (15.7%) and S (16.3%). MDR-TB was observed in 13.4%, but, in new cases, this was 11.4% and 19.1% of the previously treated patients (P<0.05). CONCLUSION: MDR-TB is gradually increased in EPTB cases and predominant resistance to previous treated cases of EPTB. The molecular drug sensitivity test (DST) method can be an early decision for chemotherapy in MDR-TB patients. The International Standards of TB Care need to be used by the RNTCP and professional medical associations as a tool to improve TB care in the country.

Signatures for chronic obstructive pulmonary disease (COPD) and asthma: a comparative genetic analysis.

Background: Chronic obstructive pulmonary disease (COPD) and asthma are obstructive lung diseases which progress in severity with time. Environmental causes and genetic makeup of individuals play important roles in disease manifestation. The aim of present study was to search for diagnostic/prognostic biomarkers to differentiate COPD and asthma.Materials and methods: Seven ADAM33 and two AQP5 single-nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The association of genotypes, haplotypes and allelic combination of variants in different genes was analyzed in 194 COPD, 150 asthma patients and 220 controls.Results: The genotype frequencies of SNPs V4(C/G), T1(T/C), S2(G/C) of ADAM33 and AQP5 A/G (rs3736309) were associated with COPD and asthma (P=0.038 to P<0.001), while S1(A/G) and F+1(C/T) were associated with asthma (both P<0.001) and V1(G/T) with 20 COPD (P<0.001). The allele frequencies of V4(C/G) (both P<0.001), V1(G/T) (both P<0.05), S2(G/C) (both P<0.01) and S1(A/G) (both P<0.05) were associated with COPD and asthma, while F+1(C/T) was associated only with asthma (P=0.005). Haplotypes of ADAM33 'GGTGGGT' (P=0.027), 'CGTCGGC' (P<0.001) and AQP5 'GA' and 'AG' (both P<0.001) were significant only in COPD.Conclusion: ADAM33 F+1(C/T) variant and allele combination 'GGTGGGTGA' may be specific markers for asthma, while AQP5 'AG' appeared as a haplotype associated only with COPD. These specific genetic biomarkers may be exploited to predict individual predisposition to COPD and asthma.

Polymorphism of cytochrome p450, glutathione-s-transferase and N-acetyltransferases: influence on lung cancer susceptibility.

Lung cancer remains a major health challenge in the world. It is the commonest cause of cancer mortality in men, it has been suggested that genetic susceptibility may contribute to the major risk factor, with increasing prevalence of smoking. Lung cancer has reached epidemic proportions in India. Recently indoor air pollution and dietary factors have been implicated in the causation of lung Cancer development. Accumulating evidences have highlighted that several polymorphisms involve the metabolic activation or detoxification of carcinogens derived from cigarette smoke have been found to be associated with lung cancer risk. Many studies have focused on the relation between the distribution of polymorphic variants of different forms of the metabolic enzymes and lung cancer susceptibility, Few of human biotransformating enzymes (Phase I enzyme: Cytochrome p450 enzymes, and Phase II enzymes: Glutathione-s-transferases, N-acetyltransferases) have been implicated in the formation and scavenging of ultimate reactive metabolites. These enzyme families are known to catalyze detoxification of electrophilic compounds including carcinogens. The treatment and prevention of lung cancer are major unmet needs that can probably be improved by a better understanding of the molecular origins and evolution of the disease. This review will focus on major recent advances in the molecular study of the origins and biology of lung cancer.

COPD exacerbation rates are higher in non-smoker patients in India.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is common among non-smokers exposed to solid fuel combustion at home. Different clinical characteristics in these patients may have significant therapeutic and prognostic implications.METHODS: We used medical record review and a questionnaire among COPD patients at 15 centres across India to capture data on demographic details, different types of exposures and clinical characteristics. Chest radiography and pulmonary function testing were performed in all 1984 cases; C-reactive protein and exhaled breath nitric oxide were measured wherever available.RESULTS: There were 1388 current or ex-smokers and 596 (30.0%) non-smokers who included 259 (43.5%) male and 337 (56.5%) female patients. Sputum production was significantly more common in smokers with COPD (P < 0.05). The frequency of acute symptomatic worsening, emergency visits and hospitalisation were significantly higher (P < 0.05) in non-smokers with COPD; however, intensive care unit admissions were similar in the two groups. There was no significant difference with respect to the use of bronchodilators, inhalational steroids or home nebulisation among smoker and non-smoker patients. The mean predicted forced expiratory volume in 1 sec in smokers (43.1%) was significantly lower than in non-smokers (46.5%).CONCLUSION: Non-smoker COPD, more commonly observed in women exposed to biomass fuels, was characterised by higher rate of exacerbations and higher healthcare resource utilisation.

Over-expression of STP13, a hexose transporter, improves plant growth and nitrogen use in Arabidopsis thaliana seedlings.

In Arabidopsis thaliana, the regulation of hexose levels by the large monosaccharide transporter (MST) gene family influences many aspects of plant growth. The cloning and transgenic expression of one family member (STP13) enabled the manipulation of carbon (C) and nitrogen (N) metabolism in Arabidopsis. Transgenic seedlings constitutively over-expressing STP13 (STP13OX) had increased rates of glucose uptake, higher endogenous sucrose levels and accumulated more total C and biomass per plant when grown on soil-less media supplemented with 55 mM glucose and sufficient N (9 mM nitrate). Furthermore, STP13OX seedlings acquired 90% more total N than the Col-0 seedlings, and had higher levels of expression of the nitrate transporter NRT2.2. In addition, STP13OX seedlings were larger and had higher biomass than Col-0 seedlings when grown under a limiting N condition (3 mM nitrate). Transgene analysis of STP13 reveals that its gene product is localized to the plasma membrane (PM) in tobacco BY-2 suspension cells, that it encodes a functional MST in planta, and that the STP13 promoter directs GUS expression to the vasculature and to leaf mesophyll cells. This work highlights the link between C and N metabolism, demonstrating that a plant's N use may be improved by increasing the availability of C.

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

BACKGROUND: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation. METHODS: TCF4 mutational analysis was performed in 117 patients with PTHS-like features. RESULTS: In total, 16 novel mutations were identified. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt. In addition, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures and 44% had MRI anomalies. CONCLUSION: This study provides further evidence of the mutational and clinical spectrum of PTHS and confirms its important role in the differential diagnosis of severe mental retardation.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

BACKGROUND: Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental retardation, microcephaly, growth retardation, a distinct facial appearance and various midline defects including corpus callosum abnormalities, cardiac, gastro-oesophageal and urogenital defects, as well as various central nervous system anomalies. Patients with a submicroscopic, subtelomeric 1qter deletion have a similar phenotype, suggesting that the main phenotype of these patients is caused by haploinsufficiency of genes in this region. OBJECTIVE: To describe the clinical presentation of 13 new patients with a submicroscopic deletion of 1q43q44, of which nine were interstitial, and to report on the molecular characterisation of the deletion size. RESULTS AND CONCLUSIONS: The clinical presentation of these patients has clear similarities with previously reported cases with a terminal 1q deletion. Corpus callosum abnormalities were present in 10 of our patients. The AKT3 gene has been reported as an important candidate gene causing this abnormality. However, through detailed molecular analysis of the deletion sizes in our patient cohort, we were able to delineate the critical region for corpus callosum abnormalities to a 360 kb genomic segment which contains four possible candidate genes, but excluding the AKT3 gene.

A rare presentation of angioedema with isolated retropharyngeal and supraglottic involvement.

Angiotensin converting-enzyme (ACE) inhibitors are commonly prescribed drugs with multiple indications including congestive heart failure, hypertension, and diabetic nephropathy. ACE inhibitor induced angioedema is commonly seen across emergency departments and clinics, with transient swelling of lips, tongue, and other facial structures being the common presentation. Isolated airway obstruction as a result of pharyngeal and laryngeal swelling without facial swelling is a rare presentation. We present a case of a patient on lisinopril therapy for one year who experienced severe airway compromise without the classic symptoms of ACE inhibitor induced angioedema. He required emergent cricothyroidotomy to secure his airway, as fiberoptic laryngoscopy showed 90% obstruction and inability to visualize true vocal cords. His ACE inhibitor therapy was discontinued, and he was discharged home within a few days with no residual symptoms.

Rifampicin, ethambutol and pyrazinamide-induced thrombocytopenia.

Drug-induced thrombocytopenia is an uncommon but serious side effect of many drugs including antituberculosis drugs. It is difficult to diagnose but easy to prevent just by stopping the exposure to the same drug again. In some cases, it can prove fatal if not taken care of urgently. Here, we report a case of thrombocytopenia due to rifampicin, ethambutol and pyrazinamide all in an adult male, which we believe is the first to be reported.

Circadian rhythm of peak expiratory flow rate in healthy north Indian men.

Peak expiratory flow rate (PEFR) variability follows a specific pattern in asthmatics as well as in healthy individuals. There is scarcity of data for Indian healthy subjects. The PEFR (L/min.) was measured with Wright's portable peak flow meter at 05:00, 8:00, 11:00, 14:00, 17:00, 20:00 and 23:00 hours in 42 healthy, non-smoking adults of age group between 18-26 years. The variability of PEFR revealed a circadian pattern. PEFR levels tend to increase from morning at 5:00 hours till evening at 17:00 hours, with peak PEFR in evening at 17:00 hours, after which there was a progressive fall in PEFR levels, till morning 5:00 hours. This study provides the preliminary reference data of circadian pattern of PEFR in healthy individuals.