Corrosion inhibition capacity of two heterocyclic oximes on copper in nitric acid: electrochemical, quantum chemical and surface morphological investigations

Two heterocyclic oximes (E)-N-hydroxy-1-(pyridin-2-yl)methanimine (Hp2ylm) and (E)-N-hydroxy-1-(pyridin-3-yl)methanimine (Hp3ylm) were synthesized from pyridine-2-carbaldehyde and pyridine-3-carbaldehyde, respectively. These oximes were characterized by various spectroscopic tools like UV, IR, MASS and NMR. The inhibition capacity of these oximes against copper corrosion in 0.1 M HNO3 was determined by polarization and impedance spectroscopic studies (EIS). At all concentrations, Hp3ylm exhibited higher inhibition efficiency than Hp2ylm. Attempt was made to illustrate the mechanism of corrosion inhibition by these oximes with the help of adsorption isotherm, scanning electron microscopic (SEM) and quantum chemical studies

Biomass and carbon stocks in two mangrove patches of Chettuva Estuary, south-west coast of India

Mangroves support numerous ecosystem services, including fisheries production and nutrient cycling. The role of mangroves in mitigating climate change is also well known. In the present study, the biomass and carbon sequestration potential of two dense mangrove patches located in the Chettuva estuary, south-west coast of India were assessed

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD

Glimpses of biodiversity in the Kadalundi-Vallikunnu Community Reserve, the first Community Reserve of Kerala

Biodiversity is the mainstay of ecosystem services and functions and supports the livelihood of millions of people. Sustainable utilization and conservation of our rich biological diversity is a prerequisite for human survival. India is a megadiverse country and with only 2.4% of the world’s geographical area, it accounts for 7 to 8% of all recorded species. Our country is a signatory to various international instruments focussing on matters of biodiversity, including the Convention on Biological Diversity (CBD). The country has an obligation to protect our rich biological diversity and is one of the leaders in having established a comprehensive legal and institutional system to achieve the objectives of the CBD. Expansion of India’s Protected Area (PA) network, including ‘Conservation and Community Reserves’ is one of the important action points of the National Biodiversity Action Plan of our country. The Kadalundi-Vallikunnu Community Reserve which lies in the Malabar region is the first Community Reserve of Kerala and is known for its rich biological diversity. Endowed with dense mangrove forests and mudflats, the Community Reserve is an abode to a large number of avian fauna, including many migratory species. Fishing and ecotourism have been the mainstay of income generation for many local inhabitants of the Community Reserve. Considering the ecological significance, diversity of wetland avian fauna and the burden of heavy anthropogenic pressures, the Kadalundi estuary was officially declared as the ‘Kadalundi-Vallikunnu Community Reserve’ in October, 2007. Bio-inventorying and documentation of biodiversity is invaluable for the wise use of our ecosystems and the sustainability of biological resources. This publication is an outcome of a detailed study conducted by the ICAR-Central Marine Fisheries Research Institute in collaboration with the Kerala State Biodiversity Board to document the rich biodiversity of the Kadalundi-Vallikunnu Community Reserve and to assess the economic value of the various ecosystem services rendered by the Community Reserve. The publication provides an insight in to the diversity of plankton, seagrass, mangroves, mangrove associates, avian fauna, molluscs, crustaceans and finfishes of the Community Reserve with an overview of the economic value of the ecosystem services. The various threats faced by the Community Reserve and meaningful options for the conservation and sustainable management of the Reserve is also highlighted in this document

Sponge fauna of the Lakshadweep Islands of Indian Ocean

The present study deals with four new records of sponges found at Lakshadweep area and a checklist of sponges reported off. The new records are Agelas oroides, Callyspongia (Cladochalina) aculeata, Raspailia (Clathriodendron) arbuscula and Stylissa massa. Details about the species diversity of common sponges, massive sponges, boring sponges of the area are discussed and presented

Colon biopsies for evaluation of acute graft-versus-host disease (A-GVHD) in allogeneic bone marrow transplant patients

BACKGROUND: Proper histomorphological interpretation of intestinal acute graft versus host disease (A-GVHD) associated with allogeneic bone marrow transplantation (BMT) is critical for clinical managaement. However, studies methodically evaluating different histomorphological features of A-GVHD are rare. METHODS: Colonic biopsies from 44 allogeneic BMT patients having biopsy-proven cutaneous A-GVHD were compared with colon biopsies from 48 negative controls. RESULTS: A-GVHD showed intra-cryptal apoptosis in 91% and pericryptal apoptosis in adjacent lamina propria in 70% (p < 0.002). Nonspecific apoptosis along the surface epithelium was observed in all groups with comparable frequency. The number of apoptotic cells in mucosa were approximately four times (5.3 per 10 HPF) the negative controls (p < 0.002) in A-GVHD group. 48% of cases with A-GVHD showed decreased number of lymphocytes in lamina propria. Some features, including intraepithelial lymphocytes in surface or crypt epithelium; and neutrophils, eosinophils, and edema in lamina propria, did not demonstrate significant difference in A-GVHD and negative controls. Pericryptal apoptosis, dilated crypts, irregular distribution of crypts, decreased lymphocytes, increased microvessel network, focal fibrosis, presence of muciphages, reactive changes in surface epithelium with mucin depletion, mucosal ulceration, and/or reduced mucosal thickness showed higher association with A-GVHD group. CONCLUSIONS: Intracyptal apoptosis is a reliable indicator of A-GVHD. Its diagnostic significance was improved if intracyptal apoptosis was associated with features which were observed more frequently in A-GVHD group as mentioned above

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Purpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene. Methods: Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins. We collected detailed genotype and phenotype information for each affected individual. Results: We identified 16 unique variants in GNAI1 in 24 affected individuals; 23 occurred de novo and 1 was inherited from a mosaic parent. Most affected individuals have a severe neurodevelopmental disorder. Core features include global developmental delay, intellectual disability, hypotonia, and epilepsy. Conclusion: This collaboration establishes GNAI1 variants as a cause of NDDs. GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

Nations within a nation: variations in epidemiological transition across the states of India, 1990–2016 in the Global Burden of Disease Study

18% of the world's population lives in India, and many states of India have populations similar to those of large countries. Action to effectively improve population health in India requires availability of reliable and comprehensive state-level estimates of disease burden and risk factors over time. Such comprehensive estimates have not been available so far for all major diseases and risk factors. Thus, we aimed to estimate the disease burden and risk factors in every state of India as part of the Global Burden of Disease (GBD) Study 2016

The contribution of X-linked coding variation to severe developmental disorders

Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders