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Research suggests that Muslim women wearing the hijab may be particularly vulnerable to the experiences of stigmatization as the hijab represents a dominant marker of "otherness." Using the relational demography perspective, this paper explored the viewpoints of hijab and non-hijab-wearing Muslim women in Delhi regarding the different forms of discrimination and/or social isolation they may have experienced. Thematic analysis was used to explore the participant's narratives, gathered by means of six focus group discussions (n = 38). For the hijab-wearing group, two emergent themes were evident: "Journey of my hijab" and "The two sides of the hijab." For the non-hijab-wearing group, the emergent themes included: "My name is (un)safe" and "Not Muslim enough." The study findings can inform the development of intervention strategies to integrate the community more meaningfully by preventing "othering" and providing agency and autonomy., (© 2025 Wiley Periodicals LLC.)

Oculocutaneous albinism is an inherited disorder of melanin biosynthesis, characterized by absent or reduced pigmentation of the skin, hair, and eyes. Molecular alterations of genes that cause non-syndromic albinism in Asian Indians are poorly characterized. This information would be useful for developing therapies for this disorder. We analyzed 164 persons with non-syndromic albinism, belonging to unrelated families from all parts of India, for molecular changes in the causative genes. Subjects with white hair, white skin, and red iris had their tyrosinase gene sequenced and were also tested by MLPA for deletions/duplications. Subjects with negative results or with darker skin, golden/brown or darker hair had sequencing of TYR, P, TYRP1, SLC45A2 and GPR143 genes. Pathogenic variants in TYR (OCA1) were observed in 139 (84.7%) patients, in the P gene (OCA2) in 20 (12.2%), in TYRP1 (OCA3) in two (1.2%), in SLC45A2 (OCA 4) in one (0.61%), and in GPR143 (X-linked ocular albinism) in two (1.2%) patients. Of 278 alleles with variants in TYR, 179 (64.3%) alleles had (p.R278*) alteration, suggesting the possibility of therapy with a stop codon readthrough molecule. We report 20 patients with 13 disease associated variants in the P gene and 18 novel pathogenic variants in TYR, P, TYRP1, SLC45A2 and GPR143 genes. The data are compared with those reported from India, Pakistan and rest of the world. The therapeutic options in albinism are briefly described, opening this field for future therapies., (© 2023. The Author(s), under exclusive licence to European Society of Human Genetics.)

Background: Increased consumption of ultra-processed foods (UPFs) which have additives such as artificial colours, flavours and are usually high in salt, sugar, fats and specific preservatives, are associated with diet-related non-communicable diseases (NCDs). In India, there are no standard criteria for identifying UPFs using a classification system based on extent and purpose of industrial processing. Scientific literature on dietary intake of foods among Indian consumers classifies foods as unhealthy based on presence of excessive amounts of specific nutrients which makes it difficult to distinguish UPFs from other commercially available processed foods., Methods: A literature review followed by an online grocery retailer scan for food label reading was conducted to map the types of UPFs in Indian food market and scrutinize their ingredient list for the presence of ultra-processed ingredients. All UPFs identified were randomly listed and then grouped into categories, followed by saliency analysis to understand preferred UPFs by consumers. Indian UPF categories were then finalized to inform a UPF screener., Results: A lack of application of a uniform definition for UPFs in India was observed; hence descriptors such as junk-foods, fast-foods, ready-to-eat foods, instant-foods, processed-foods, packaged-foods, high-fat-sugar-and-salt foods were used for denoting UPFs. After initial scanning of such foods reported in literature based on standard definition of UPFs, an online grocery retailer scan of food labels for 375 brands (atleast 3 brands for each food item) confirmed 81 food items as UPFs. A range of packaged traditional recipes were also found to have UPF ingredients. Twenty three categories of UPFs were then developed and subjected to saliency analysis. Breads, chips and sugar-sweetened beverages (e.g. sodas and cold-drinks) were the most preferred UPFs while frozen ready-to-eat/cook foods (e.g. chicken nuggets and frozen kebabs) were least preferred., Conclusion: India needs to systematically apply a food classification system and define Indian food categories based on the level of industrial processing. Mapping of UPFs is the first step towards development of a quick screener that would generate UPF consumption data to inform clear policy guidelines and regulations around UPFs and address their impact on NCDs., (© 2024. The Author(s).)

Objective: To describe the comorbidities in children with cerebral palsy (CP) and determine the characteristics associated with different impairments., Design: Cross-sectional study., Setting: Tertiary care referral centre in India., Patients: Between April 2018 and May 2022, all children aged 2-18 years with a confirmed diagnosis of CP were enrolled by systematic random sampling. Data on antenatal, birth and postnatal risk factors, clinical evaluation and investigations (neuroimaging and genetic/metabolic workup) were recorded., Main Outcome Measures: Prevalence of the co-occurring impairments was determined using clinical evaluation or investigations as indicated., Results: Of the 436 children screened, 384 participated (spastic CP=214 (55.7%) (spastic hemiplegic=52 (13.5%); spastic diplegia=70 (18.2%); spastic quadriplegia=92 (24%)), dyskinetic CP=58 (15.1%) and mixed CP=110 (28.6%)). A primary antenatal/perinatal/neonatal and postneonatal risk factor was identified in 32 (8.3%), 320 (83.3%) and 26 (6.8%) patients, respectively. Prevalent comorbidities (the test used) included visual impairment (clinical assessment and visual evoked potential)=357/383(93.2%), hearing impairment (brainstem-evoked response audiometry)=113 (30%), no understanding of any communication (MacArthur Communicative Development Inventory)=137 (36%), cognitive impairment (Vineland scale of social maturity)=341 (88.8%), severe gastrointestinal dysfunction (clinical evaluation/interview)=90 (23%), significant pain (non-communicating children's pain checklist)=230 (60%), epilepsy=245 (64%), drug-resistant epilepsy=163 (42.4%), sleep impairment (Children's Sleep Habits Questionnaire)=176/290(60.7%) and behavioural abnormalities (Childhood behaviour checklist)=165 (43%). Overall, hemiparetic and diplegic CP and Gross Motor Function Classification System ≤3 were predictive of lesser co-occurring impairment., Conclusion: CP children have a high burden of comorbidities, which increase with increasing functional impairment. This calls for urgent actions to prioritise opportunities to prevent risk factors associated with CP and organise existing resources to identify and manage co-occurring impairments., Trial Registration Number: CTRI/2018/07/014819., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

In 2021 an estimated 74 million individuals had diabetes in India, almost all type 2 diabetes. More than half of patients with diabetes are estimated to be undiagnosed and more 90% have dyslipidemia that is associated with accelerated development of atherosclerotic cardiovascular disease (ASCVD). Patients of Indian descent with diabetes have multiple features that distinguish them from patients with diabetes in Western populations. These include characteristics such as earlier age of onset, higher frequency of features of the metabolic syndrome, more prevalent risk factors for ASCVD, and more aggressive course of ASCVD complications. In light of the unique features of diabetes and diabetic dyslipidemia in individuals of Indian descent, the Lipid Association of India developed this expert consensus statement to provide guidance for management of diabetic dyslipidemia in this very high risk population. The recommendations contained herein are the outgrowth of a series of 165 webinars conducted by the Lipid Association of India across the country from May 2020 to July 2021, involving 155 experts in endocrinology and cardiology and an additional 2880 physicians., Competing Interests: Conflict of interest Raman Puri: Boehringer Ingelheim, Novartis Vimal Mehta: Institutional research grants from Amgen, AstraZeneca, Boehringer Ingelheim, Eli Lilly, LIB Therapeutics, Novo Nordisk, Torrent P Barton Duell: Advisory activities: Akcea/Ionis, Esperion, Novo Nordisk, Regeneron, Kaneka. Institutional grants: Regeneron, Regenxbio, Retrophin/Travere V Mohan: Research or educational grants from Abbott, AstraZeneca, Boehringer Ingelheim, Dr. Reddy's Lab, Johnson and Johnson, Lifescan, MSD, Novartis, Novo Nordisk, Roche Diabetes Care India Private Ltd, Sanofi-Aventis, USV, other Indian pharmaceutical companies S. S. Iyengar: Dr. Reddy's Lab, Amgen, Emcure, Glenmark, Boehringer Ingelheim, Pfizer, Novartis Vinod Mittal: Boehringer Ingelheim, USV, Cipla, Intas, Emcure, MacLeods S N Narasingan: USV, Novo Nordisk, Eris, Glenmark, Torrent, Boehringer Ingelheim J.B. Chemicals and Pharmaceuticals Nathan D. Wong: Amgen, Amarin, Novartis, Esperion SK Wangnoo: Sanofi- Aventis, Nova Nordisk, Boehringer Ingelheim, Astra Zeneca The other authors report no conflict of interest., (Copyright © 2022. Published by Elsevier Inc.)

In India during the first wave of COVID-19 infection, the authorities were concerned about the advent of the festive season, which could lead to a surge in cases of SARS-CoV-2 infection. The present study attempted to assess the socio-behavioral aspects of COVID-appropriate behavior (CAB) at individual and community levels, and their impact on the transmission of COVID-19 during festivities in India. Media scanning was conducted to qualitatively assess CAB by analyzing 284 news reports from across India; quantitative data on COVID-19 daily cases from March 2020 to December 2020 were used to determine the trends of the adjusted test positivity (ATP) ratio for six cities. Peaks in ATP were observed in Chandigarh, Delhi-NCR in North India during and after Dussehra and Deepavali, and in Mumbai, in the west, after Navratri. Additionally, a surge in ATP was observed in Trivandrum after Onam and in Chennai around Deepavali in the south; meanwhile, in the eastern city of Kolkata, cases increased following Durga Puja. The major challenges were adherence to CAB viz. social distancing, hygiene, and compliance with the mask mandate. Microlevel CAB indicated relatively higher laxity in maintaining hand hygiene in all cities. Observations from the current study indicate that innovative community-driven initiatives during festivals in each geographical zone are key to the large-scale implementation of disease prevention measures.

COVID-19 vaccination was initially started in India on 16th January 2021 after approval from national authorities. This study was carried out to assess the effect of vaccination status on the severity and clinical outcome among patients infected with COVID-19. The study included all adult COVID-19 patients admitted to our hospital from 1st April to 30th June 2021. A total of 819 patients were enrolled in the study out of which only 183 (22.3%) were vaccinated. The study documented a statistically significant reduction in the severity of illness among the vaccinated (single/double dose) (33% severe COVID-19) against the unvaccinated (43% severe COVID-19) groups; along with a reduction in mortality. On univariate and multivariate analysis, age, severity of illness and lack of COVID-19 vaccination status were associated with a statistically significant increased mortality. To conclude, this study demonstrates the role of vaccination in decreasing the severity and mortality of COVID-19 infection.

Background: The Coronavirus disease 2019 (COVID-19) pandemic poses a serious public health concern worldwide. Certain regions of the globe were severely affected in terms of prevalence and mortality than other. Although the cause for this pattern is not clearly understood, lessons learned from previous epidemics and emerging evidences suggest the major role of ecological factors like ambient air pollutants (AAP) and meteorological parameters in increased COVID-19 incidence. The present study aimed to understand the impact of these factors on SARS-CoV-2 transmission and their associated mortality in major cities of India., Methods: This study used secondary AAP, meteorological and COVID-19 data from official websites for the period January-November 2020, which were divided into Pre-lockdown (January-March 2020), Phase I (April to June 2020) and Phase II (July to November 2020) in India. After comprehensive screening, five major cities that includes 48 CPCB monitoring stations collecting daily data of ambient temperature, particulate matter PM 2.5 and 10 were analysed. Spearman and Kendall's rank correlation test was performed to understand the association between SARS-CoV-2 transmission and AAP and, meteorological variables. Similarly, case fatality rate (CFR) was determined to compute the correlation between AAP and COVID-19 related morality., Results: The level of air pollutants in major cities were significantly reduced during Phase I compared to Pre-lock down and increased upon Phase II in all the cities. During the Phase II in Delhi, the strong significant positive correlation was observed between the AAP and SARS-CoV-2 transmission. However, in Bengaluru, Hyderabad, Kolkata and Mumbai AAP levels were moderate and no correlation was noticed. The relation between AT and SARS-CoV-2 transmission was inconclusive as both positive and negative correlation observed. In addition, Delhi and Kolkata showed a positive association between long-term exposure to the AAP and COVID-19 CFR., Conclusion: Our findings support the hypothesis that the particulate matter upon exceeding the satisfactory level serves as an important cofactor in increasing the risk of SARS-CoV-2 transmission and related mortality. These findings would help public health experts to understand the SARS-CoV-2 transmission against ecological variables in India and provides supporting evidence to healthcare policymakers and government agencies for formulating strategies to combat the COVID-19., (© 2021. The Author(s).)

The similarities and differences between the mortality patterns of the two waves in India remain largely unknown. This was a retrospective study of medical records conducted in the COVID data center of our hospital This study analyzed data of patients who died in the month of August, 2020 to October 2020 (one month before and after the peak of first wave i.e., 16th September, 2020) and April 2021 to June 2021 (one month before and after the peak of second wave i.e., 6th May, 2021), corresponding to an equal part of the pandemic during first (2020) and second (2021) wave. Out of 1893 patients in the study, 764 patients were admitted during the first wave and 1129 patients during the second wave of pandemic. In total, 420 patients died during the entire study period. Of those, 147 (35%) deaths occurred during the first wave and 273 (65%) during the second wave, reflecting a case fatality rate (CFR) of 19.2% during the first wave and a CFR of 24.18%. There were no significant differences in the age group, gender, presenting complaints, duration of stay and comorbidities. However, the deceased COVID-19 patients had an increase in case fatality rate, average duration of symptoms from onset to hospital admission (DOSHA) and a major shift from MODS to ARDS being the cause of death during the second wave of pandemic. This study demonstrates increased CFR, average DOSHA and a paradigm shift to ARDS as cause of mortality during the second peak of the pandemic. It is necessary to remain vigilant of newer COVID-19 variants of concern, follow COVID-19 appropriate behaviors and keep emphasizing on care of high-risk groups including patients with comorbidities and elderly population to prevent mortality.

Background: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS)., Methods: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary., Results: Of the 200 participants, 52 (26%) were found to be carrier of one or more disorders. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order). Nine individuals were observed to be carriers for cystic fibrosis, with a frequency of one in 22. Three individuals were detected to be carriers for Pompe disease (frequency one in 67). None of the 88 couples screened were found to be carriers for the same disorder. The pathogenic variants observed in many disorders (such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc.) were different from those commonly observed in the West., Conclusion: A higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes through NGS, as all the variants are not well characterized. Only study of entire coding regions in the genes will detect carriers with adequate efficiency, in order to reduce the burden of genetic disorders in India and other resource poor countries.

Background: Dystrophinopathies are common X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (DMD). Analysis of the mutational spectrum in the Indian patients would be useful for confirming the diagnosis, provide genetic counseling, offer reproductive options, and importantly to determine the eligibility for the mutation-specific therapies currently approved/or undergoing trials, such as skipping of specific exons or read-through of stop codon., Methods: In 1660 patients diagnosed as Duchenne muscular dystrophy (DMD) /Becker muscular dystrophy (BMD) deletion- duplication analysis of all 79 exons was carried out using Multiplex ligation-dependent probe amplification (MLPA) technology. In 63 patients where no mutations were detected by MLPA, the nucleotide sequence of the DMD gene was determined by next gene sequencing. In seven cases where MLPA showed deletion of a single exon, and amplification of the specific exon was successful by polymerase chain reaction (PCR), Sanger sequencing of the concerned region was carried out to detect changes in the sequence., Results: The mutation spectrum of 1660 patients with DMD/BMD was determined and 1188 (71.6%) patients were identified to have deletions or duplications of one or more exons. Of these, 1090 (65.7%) had true deletions of exons and 98 (5.9%) had duplications of exons. The most frequent change was the deletion of exon 45 (66/1090, 6.1%) and duplication of exon 2 (1/98, 11.2%). Sequencing of dystrophin gene was performed in 70 cases, and variants were identified in 68 patients (97.1% of those analyzed). Stop codon variants were observed in 34 (50%) patients, missense variants in 4 (5.9%), small deletions in 19 (27.9%), small insertions in 6 (8.8%) and slice site variants in 5 (7.4%) patients. Thirty one of 68 variants (45.5%) were novel., Conclusions: The authors highlight the importance of identifying the type of mutation in patients with DMD. Based on the results, it is estimated that 681 (54.2%) of 1256 patients in this cohort would benefit from the currently ongoing mutation-specific therapies.

Purpose: Enterococci express high degree of resistance towards wide range of antibiotics. Production of biofilm and many virulence factors along with drug resistance makes it difficult to eradicate the infection from urinary tract. The present study detected the expression of such factors including biofilm production by multidrug-resistant (MDR) enterococci., Materials and Methods: Drug susceptibility of 103 uropathogenic enterococci was performed followed by estimation of minimum inhibitory concentration of high-level gentamicin and vancomycin by microbroth dilution method. Vancomycin-resistant genes were detected by multiplex polymerase chain reaction. Production of virulence factors such as haemagglutination, caseinase, lipase, gelatinase, haemolysin and β-lactamase was detected by phenotypic methods in MDR strains. Biofilm production was detected by calcofluor-white fluorescence staining and semi-quantitative adherence assay., Results: 45% and 18.4% of the isolates were high-level gentamicin-resistant and vancomycin-resistant enterococci (VRE), respectively. vanA gene was detected in 14 and vanB gene in 5 strains. Biofilm, caseinase and gelatinase were the most expressed virulence factor. Expression of caseinase, gelatinase and lipase was significantly higher in Enterococcus faecalis (P < 0.05). Expression of haemagglutination, gelatinase and haemolysin among the vancomycin-resistant isolates was significantly higher (P < 0.05)., Conclusion: VanA and vanB are the prevalent genotypes responsible for vancomycin resistance. The high prevalence of MDR enterococcal strains producing biofilm and virulence determinants raises concern. asa1, hyl, esp, gelE, cyl and other genes are known to express these factors and contribute to biofilm formation. Most uropathogenic enterococci expressed biofilm at moderate level and can be detected effectively by calcofluor-white staining. No correlation was noted between vancomycin resistance and biofilm production., Competing Interests: None

Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic variants in either PKD1 or PKD2 gene. There is no comprehensive genetic data from Indian subcontinent. We aimed to identify the pathogenic variants in the heterogeneous Indian population. PKD1 and PKD2 variants were identified by direct gene sequencing and/or multiplex ligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD. The pathogenic potential of the variants was evaluated computationally and were classified according to ACMG guidelines. Overall 300 variants were observed in PKD1 and PKD2 genes, of which 141 (47%) have been reported previously as benign. The remaining 159 variants were categorized into different classes based on their pathogenicity. Pathogenic variants were observed in 105 (84%) of 125 patients, of which 99 (94.3%) were linked to PKD1 gene and 6 (6.1%) to PKD2 gene. Of 159 variants, 97 were novel variants, of which 43 (44.33%) were pathogenic, and 10 (10.31%) were of uncertain significance. Our data demonstrate the diverse genotypic makeup of single gene disorders in India as compared to the West. These data would be valuable in counseling and further identification of probable donors among the relatives of patients with ADPKD.

Background: The Helicobacter pylori infection is linked to chronic urticaria in nearly 60% of patients. We studied clinicoepidemiologic features in patients with chronic urticaria with and without H. pylori infection., Methods: Endoscopic antral biopsy for the rapid urease test (RUT) and histopathology, and serum IgG ELISA for H. pylori infection were performed in 150 patients (male:female ratio 1:2.4) of chronic urticaria aged 18-68 years. Clinicoepidemiologic features including age, gender, age of onset and duration, frequency and distribution of wheals, urticaria severity score, and systemic symptoms were analyzed in patients with and without H. pylori. The results of serum IgG ELISA for H. pylori were compared with 106 age- and gender-matched healthy adult controls., Results: The RUT in 84 patients (56%), histopathology in 76 patients (50.6%), and H. pylori IgG ELISA in 94 patients (62.6%) were positive. H. pylori IgG ELISA was positive only in 35 (33%) controls, suggesting that chronic urticaria patients were more likely to have asymptomatic H. pylori infection than normal controls. Although not statistically significant, patients with H. pylori had a higher mean urticaria severity score, number of urticaria/angioedema episodes per year, and involvement of more body sites, particularly the scalp, palms, and soles. The constitutional or gastrointestinal symptoms were statistically higher in patients with H. pylori infection than those without it., Conclusion: A subset of chronic urticaria patients appears to have asymptomatic H. pylori infection. However, its implications in chronicity, recurrences, the severity of urticaria, other systemic manifestations, and management remains conjectural in view of 33% of controls also having positive H. pylori ELISA and the endemicity of infection in developing countries., (© 2018 S. Karger AG, Basel.)

Background: Acute necrotizing encephalopathy (ANE) is a rare disorder characterized by encephalopathy following a febrile illness, mostly viral. Most cases are sporadic; however, recurrent and familial cases have been linked to RANBP2 mutation., Description of the Case: This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C>T (p.T585M)). She had two episodes of encephalopathy, each following a short non-specific febrile illness. Neuroradiologically, she had typical findings involving bilateral thalami during the first episode and involving bilateral temporal and occipital lobes, bilateral cerebellar hemispheres and brainstem during the second episode. She was managed with intravenous gamma globulin and dexamethasone during both the episodes. She recovered significantly with residual deficits in her cognitive and language domains., Conclusions: In relevant clinic-radiological scenarios both isolated and recurrent ANE should be considered because of treatment and long-term outcome related implications., (Copyright © 2016. Published by Elsevier B.V.)

Aims: The goal of this study was to identify mutations in the propionyl-CoA carboxylase alpha subunit (PCCA) and propionyl-CoA carboxylase beta subunit (PCCB) genes, and to assess their effects on propionic academia (PA) patients., Methodology: Twenty-five Indian children with PA were enrolled in this study. Bidirectional Sanger sequencing was performed on both the coding and flanking regions of the PCCA and PCCB genes and the chromatograms were analyzed. Bioinformatic tools were used to classify novel variations into pathogenic or benign., Results: The majority of the cases (19/25, 76%) were of the early-onset (<90 days of age) type and 5 were of the late-onset type. The majority of patients had mutations in the PCCA gene (18/25). A total of 26 mutations were noted: 20 in the PCCA gene and 6 in PCCB gene. Seventeen mutations were novel (14 in PCCA and 3 in PCCB). The SNP c.937C>T (p.Arg313Ter), was noted in 9/36 (25%) alleles in the PCCA gene. All of the children were symptomatic and only three survived who are doing well with no major disabilities., Conclusion: The spectrum of mutations in the PCCA and PCCB genes among Indians is distinct from other populations. The absence of a common mutation signifies the heterogeneity and admixture of various subpopulations. These findings also suggest that individuals of Indian origin may not benefit from the mutation-based "carrier screening panels" offered by many genetic laboratories.

Maple syrup urine disease (MSUD) is caused by mutations in genes BCKDHA, BCKDHB, DBT encoding E1α, E1β, and E2 subunits of enzyme complex, branched-chain alpha-ketoacid dehydrogenase (BCKDH). BCKDH participates in catabolism of branched-chain amino acids (BCAAs) - leucine, isoleucine and valine in the energy production pathway. Deficiency or defect in the enzyme complex causes accumulation of BCAAs and keto-acids leading to toxicity. Twenty-four patients with MSUD were enrolled in the study for molecular characterization and genotype-phenotype correlation. Molecular studies were carried out by sequencing of the 3 genes by Sanger method. Bioinformatics tools were employed to classify novel variations into pathogenic or benign. The predicted effects of novel changes on protein structure were elucidated by 3D modeling. Mutations were detected in 22 of 24 patients (11, 7 and 4 in BCKDHB, BCKDHA and DBT genes, respectively). Twenty mutations including 11 novel mutations were identified. Protein modeling in novel mutations showed alteration of structure and function of these subunits. Mutations, c.1065 delT (BCKDHB gene) and c.939G > C (DBT gene) were noted to be recurrent, identified in 6 of 22 alleles and 5 of 8 alleles, respectively. Two-third patients were of neonatal classical phenotype (16 of 24). BCKDHB gene mutations were present in 10 of these 16 patients. Prenatal diagnoses were performed in 4 families. Consanguinity was noted in 37.5% families. Although no obvious genotype-phenotype correlation could be found in our study, most cases with mutation in BCKDHB gene presented in neonatal period. Large number of novel mutations underlines the heterogeneity and distinctness of gene pool from India., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Fomites are a well-known source of microbial infections and previous studies have provided insights into the sojourning microbiome of fomites from various sources. Paper currency notes are one of the most commonly exchanged objects and its potential to transmit pathogenic organisms has been well recognized. Approaches to identify the microbiome associated with paper currency notes have been largely limited to culture dependent approaches. Subsequent studies portrayed the use of 16S ribosomal RNA based approaches which provided insights into the taxonomical distribution of the microbiome. However, recent techniques including shotgun sequencing provides resolution at gene level and enable estimation of their copy numbers in the metagenome. We investigated the microbiome of Indian paper currency notes using a shotgun metagenome sequencing approach. Metagenomic DNA isolated from samples of frequently circulated denominations of Indian currency notes were sequenced using Illumina Hiseq sequencer. Analysis of the data revealed presence of species belonging to both eukaryotic and prokaryotic genera. The taxonomic distribution at kingdom level revealed contigs mapping to eukaryota (70%), bacteria (9%), viruses and archae (~1%). We identified 78 pathogens including Staphylococcus aureus, Corynebacterium glutamicum, Enterococcus faecalis, and 75 cellulose degrading organisms including Acidothermus cellulolyticus, Cellulomonas flavigena and Ruminococcus albus. Additionally, 78 antibiotic resistance genes were identified and 18 of these were found in all the samples. Furthermore, six out of 78 pathogens harbored at least one of the 18 common antibiotic resistance genes. To the best of our knowledge, this is the first report of shotgun metagenome sequence dataset of paper currency notes, which can be useful for future applications including as bio-surveillance of exchangeable fomites for infectious agents.

Background: Smile is the defining element of the face, its impact holding utmost importance in the perception of feelings. Lip is an integral part for a perfectly perceived smile. The aim of the present manuscript is to present an innovative approach to smile improvement by lip design in Indian context., Materials and Methods: Thirty-five patients who had undergone smile design (lip) in the institute were taken up for retrospective analysis. The technique of using fillers for lip augmentation was assessed, and the final result evaluated., Results: Demographic details are presented . We observed that the upliftment of the lips was more visible, and the fillers enhanced the volume resulting in an attractive smile., Conclusion: Smile reconstruction has been revolutionized by the new filler materials for volume augmentation of lips. We advocate this novel approach of lip design using fillers to generate a gorgeous smile.

Objectives: To establish a technique for mutation identification and prenatal screening in confirmed cases of Canavan disease., Method: Mutations in ASPA gene were identified by sequencing. Six exons of ASPA gene were amplified using intronic primers flanking the exons and then sequenced on ABI 3500Dx automated unit. This technique was used to identify mutations in three cases of Canavan disease. Prenatal diagnosis was performed in two families., Results: Two reported mutations c.162 C > A (p.Asn54Lys) and c.859 G > A (p.Ala287Thr) were identified in two different cases of Canavan disease. Third case was compound heterozygous for two novel mutations (c.728 T > G, p.Ile243Ser; c.902 T > C, p.Leu301Pro). Prenatal diagnosis was performed in three pregnancies in two families, two affected fetuses and one unaffected fetus were identified., Conclusions: Molecular characterization of Canavan disease helps identify the cause at genetic level, thus confirming diagnosis and enabling identification of carriers in the family. Though enzyme assay and NAA measurement allows diagnosis and prenatal diagnosis of Canavan diasease, molecular methods have the advantage of bringing accuracy in prenatal testing with an earlier result. This is the first case report of mutation studies in Canavan disease from Indian subcontinent.

Background: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1400 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups., Methods: We characterized the mutations in the CFTR gene by single-strand conformation polymorphism followed by sequencing in CF patients., Results: Twelve mutations were found in 79/225 (35.1%) patients. The most frequent mutations were F508 deletion (31.1%), p.R1162× (2.2%), p.M1T (0.8%), and S559N (0.8%). Five novel severe mutations (p.R80N11fs*11, p.R75G, p.Y577×, p.Y808Yfs*10, and p.I331×) and three reported mutations (p.C343×, p.Ile1000×, p.M469V) were detected., Conclusion: The protocol for identification of mutations in cases of CF in developing countries would have to include a different set of mutations than those reported from western countries.

β-thalassemia is the most common autosomal recessive genetic disorder in India with a mean carrier frequency of 3.3%, and 7500 to 12,000 children with β-thalassemia major are born every year. Subjects with thalassemia trait, also known as carriers, have low mean corpuscular volume, low mean corpuscular hemoglobin, and increased hemoglobin A2 (>4%). Patients with β-thalassemia major have severe anemia and require blood transfusions by 1 year of age, whereas β-thalassemia intermedia patients have mild to moderate anemia and in most cases require no or infrequent blood transfusions. Genotype/phenotype correlation is helpful for the prediction of the phenotype, and deciding treatment options for β-thalassemia patients. Genetic analyses include determining the type of β-globin gene mutation, co-inheritance of α-globin gene deletions/duplications, and Xmn1 polymorphism in γ gene. Success of a β-thalassemia control program depends on prospective carrier screening followed by genetic counseling and prenatal diagnosis.

Background: Duchenne muscular dystrophy (DMD) is a common X-linked recessive neuromuscular disorder, affecting 1 in 3,500 live male births. About 65% of cases are caused by deletions; ~5% to 8%, by duplication; and the remaining, by point mutations of the dystrophin gene. The frequency of complex rearrangements (double-deletion and non-contiguous duplications) is reported to be 4%., Aim: In this study, we examined the usefulness of multiplex ligation-dependent probe amplification (MLPA) for screening of deletion and duplication mutations in a group of DMD/ BMD (Becker muscular dystrophy) patients from India., Patients and Methods: We analyzed 180 patients referred from all over India, by both multiplex PCR technique (22 exons) and MLPA (all 79 exons)., Results and Conclusion: By multiplex PCR, deletions were detected in 90 (50%) patients. MLPA studies in these cases detected 3 additional deletions, 16 (8.9%) duplications and 2 point mutations. MLPA is useful to verify absence of deletions/ duplications in all 79 exons. This sets the stage to look for point mutations using RNA- or DNA-based tests because of the availability of the drug PTC124. Also, the extent of the deletions and duplications could be more accurately defined by MLPA. The delineation of the precise extent of deletion helps in deciding whether exon-skipping technique would be useful as therapy.

Purpose: Leber's hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India., Material and Methods: Clinical, ophthalmologic and molecular studies were carried out in two patients from different families and available first degree relatives. The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers., Results: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each., Conclusion: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Confirmation of diagnosis should be sought by molecular gene analysis. Genetic counselling should be offered to all 'at risk' relatives of a patient harbouring the mutation.

Impact of a health informatics research project on the management and delivery of primary health care, focusing on maternal and child health care (MCH), was reported earlier in 1992, with encouraging results in terms of increased antenatal care coverage and decrease in Immunisation drop-outs. The software (MCHS) was based on essential data sets (EDS) to assist the care providers in information management for MCH care. The site was revisited after four years to evaluate the status of the project and to ascertain whether computers were still in use and was the dispensary staff using the MCHS package or not? The results are presented in this paper to demonstrate that 'information is a difference that makes a difference'. Information generated by the MCHS acted as a catalyst for behavioural change in the community from indifferent users to active users of the health care services. This is reflected by the increased acceptance of antenatal care, 80% fully immunised child (FIC) and participation in other primary health care activities.