The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Cilia are essential organelles and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis in animals models but remains poorly defined. Notably, all but one subunit of the CPLANE complex have been implicated in human ciliopathy.

Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting.

Inborn errors of metabolism (IEM) are a diverse collection of abnormalities that cause a variety of morbidities and mortality in children and are classified as uncommon genetic diseases. Early and accurate detection of the condition can save a patient's life. By aiding families as they navigate the experience of having a child with an IEM, healthcare practitioners have the chance to reduce the burden of negative emotional consequences.

Deficiency of folate and vitamin B increases oxidative stress in chronic pancreatitis patients.

Background: Folate and vitamin B are involved in metabolic reactions for combating oxidative stress. We measured erythrocyte folate and plasma vitamin B and compared these with blood antioxidants - erythrocyte glutathione (GSH), glutathione peroxidase (GPx), superoxide dismutase (SOD), and plasma vitamin C - and marker of lipid peroxidation, thiobarbituric acid reactive substance (TBARS), in chronic pancreatitis (CP) patients.

Methods: One hundred and seventy-five CP patients (91 tropical, 84 alcoholic) and 113 healthy controls were recruited.

A machine learning pipeline revealing heterogeneous responses to drug perturbations on vascular smooth muscle cell spheroid morphology and formation.

Machine learning approaches have shown great promise in biology and medicine discovering hidden information to further understand complex biological and pathological processes. In this study, we developed a deep learning-based machine learning algorithm to meaningfully process image data and facilitate studies in vascular biology and pathology. Vascular injury and atherosclerosis are characterized by neointima formation caused by the aberrant accumulation and proliferation of vascular smooth muscle cells (VSMCs) within the vessel wall.

Phosphoinositide Signaling and Mechanotransduction in Cardiovascular Biology and Disease.

Phosphoinositides, which are membrane-bound phospholipids, are critical signaling molecules located at the interface between the extracellular matrix, cell membrane, and cytoskeleton. Phosphoinositides are essential regulators of many biological and cellular processes, including but not limited to cell migration, proliferation, survival, and differentiation, as well as cytoskeletal rearrangements and actin dynamics. Over the years, a multitude of studies have uniquely implicated phosphoinositide signaling as being crucial in cardiovascular biology and a dominant force in the development of cardiovascular disease and its progression.

Post-event reviews: Using a quantitative approach for analysing incident response to demonstrate the value of business continuity programmes and increase planning efficiency.

Business continuity management is often thought of as a proactive planning process for minimising impact from large-scale incidents and disasters. While this is true, and it is critical to plan for the worst, consistently validating plan effectiveness against smaller disruptions can enable an organisation to gain key insights about its business continuity readiness, drive programme improvements, reduce costs and provide an opportunity to quantitatively demonstrate the value of the programme to management. This paper describes a post mortem framework which is used as a continuous improvement mechanism for tracking, reviewing and learning from real-world events at Microsoft Customer Service & Support.

Nanomedicine in the Diagnosis and Treatment of Atherosclerosis-A Systematic Review.

Background: Atherosclerosis is a chronic inflammatory condition causing very high morbidity and mortality. It is characterized by accumulation of plaques within arteries. Nanomedicine is an emerging field of medicine utilizing nanotechnology for advanced imaging and therapy.

O-GlcNAc transferase regulates transcriptional activity of human Oct4.

O-linked β-N-acetylglucosamine (O-GlcNAc) is a single sugar modification found on many different classes of nuclear and cytoplasmic proteins. Addition of this modification, by the enzyme O-linked N-acetylglucosamine transferase (OGT), is dynamic and inducible. One major class of proteins modified by O-GlcNAc is transcription factors.

Attitude of bachelor of dental surgery students and interns toward teaching-learning process in Government Dental College, Kottayam, Kerala, India.

Introduction: The educational environment affects the academic performance of students. One of the most widely utilized tools for measuring the educational environment is Dundee Ready Education Environment Measure (DREEM). The objective of the study was to assess the attitude toward study environment, as measured using DREEM questionnaire, and to find out the differences in perception of various batches of dental students.

Identification and characterization of a missense mutation in the -linked β--acetylglucosamine (-GlcNAc) transferase gene that segregates with X-linked intellectual disability.

-GlcNAc is a regulatory post-translational modification of nucleocytoplasmic proteins that has been implicated in multiple biological processes, including transcription. In humans, single genes encode enzymes for its attachment (-GlcNAc transferase (OGT)) and removal (-GlcNAcase (OGA)). An X-chromosome exome screen identified a missense mutation, which encodes an amino acid in the tetratricopeptide repeat, in (759G>T (p.

A randomized study of coconut oil versus sunflower oil on cardiovascular risk factors in patients with stable coronary heart disease.

Background And Rationale: Coronary artery disease (CAD) and its pathological atherosclerotic process are closely related to lipids. Lipids levels are in turn influenced by dietary oils and fats. Saturated fatty acids increase the risk for atherosclerosis by increasing the cholesterol level.

Zinc/copper ratio: a predictor of pancreatic function in chronic pancreatitis?

Background: The role of trace elements in the maintenance of normal pancreatic function is unclear.

Aim: To estimate trace elements (zinc and copper) in chronic pancreatitis (CP) patients and study their relationship with exocrine and endocrine insufficiency. Methods: The study involved 101 CP patients and 113 healthy controls.

Alterations in the levels of plasma amino acids in polycystic ovary syndrome--A pilot study.

Background & Objectives: Plasma amino acid levels are known to be altered in conditions like sepsis and burns which are situations of metabolic stress. Polycystic ovary syndrome (PCOS), a condition which affects a woman throughout her life, is said to be associated with metabolic stress. This study was undertaken to assess if there were significant alterations in the levels of plasma amino acids in women with PCOS.

Urinary proteomics and metabolomics in the diagnosis of pediatric disorders.

Proteomics is the study of structures and functions of proteins, while metabolomics is the study of small-molecule metabolites in the cells, tissues, and organs of the organism. Proteomic technologies have wide applications in medical field. The current revolution in proteomics has led to the discovery of several new protein markers for various disorders.

Multiple tissue-specific roles for the O-GlcNAc post-translational modification in the induction of and complications arising from type II diabetes.

In this minireview, we will highlight work in the last 30 years that has clearly demonstrated that the O-GlcNAc modification is nutrient-responsive and plays multiple roles in metabolic regulation of signaling and gene expression. Further, we will examine recent studies that have investigated the impact of O-GlcNAc in a variety of glucose- and insulin-responsive tissues and the roles attributed to O-GlcNAc in the induction of insulin resistance and glucose toxicity, the hallmarks of type II diabetes mellitus. We will also summarize potential causal roles for the O-GlcNAc modification in complications associated with diabetes.

Comparison of efficacy of five types of long-lasting insecticidal nets against Anopheles fluviatilis, the primary malaria vector in east-central India.

Five types of long-lasting insecticidal nets (LNs), namely, Olyset, Netprotect, PermaNet, DuraNet, and Interceptor, were tested after 20 washes for efficacy in terms of mortality, deterrence effect, blood-feeding inhibition, and induced exophily of the malaria vector Anopheles fluviatilis in experimental huts in Malkangiri district of Odisha State, India. Efficacy of the three synthetic pyrethroids (SPs) used in the LNs was also analyzed. Use of LNs reduced the entry of An.

Molecular diagnosis of urea cycle disorders: current global scenario.

Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammonemia, metabolic alkalosis and clinical features of encephalopathy. These are among the commonest types of inborn errors of metabolism with a frequency of 1 in 8,000 to 1 in 30,000 in different population. This encompasses 5 major disorders, corresponding with deficiency of each step in the urea cycle, namely ornithine transcarbamoylase (OTC) deficiency, argininosuccinate lyase (ASL) deficiency, carbamoyl phosphate synthetase (CPS) deficiency, citrullinemia and argininemia.

Congenital complete heart block in Klippel-Feil syndrome.

A 36-year-old man with a short neck, low hairline, and mild kyphoscoliosis, presented with history of syncope. Chest radiography revealed a diaphragmatic hernia. Computed tomography demonstrated fusion of C2-C6 vertebral bodies, Electrocardiography indicated complete heart block.

Functional O-GlcNAc modifications: implications in molecular regulation and pathophysiology.

O-linked β-N-acetylglucosamine (O-GlcNAc) is a regulatory post-translational modification of intracellular proteins. The dynamic and inducible cycling of the modification is governed by O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA) in response to UDP-GlcNAc levels in the hexosamine biosynthetic pathway (HBP). Due to its reliance on glucose flux and substrate availability, a major focus in the field has been on how O-GlcNAc contributes to metabolic disease.

Diet, nutrient deficiency and chronic pancreatitis.

The aetiopathogenesis of chronic pancreatitis (CP) appears to be multifactorial with interplay of genetic and environmental factors such as alcohol, smoking and diet. Dietary factors in the form of a fat- and protein-rich diet are important cofactors in the aetiopathogenesis of alcoholic pancreatitis. Malnutrition used to be a hallmark in tropical pancreatitis.

Single lung transplantation in India: an initial experience.

The science of lung transplantation has evolved from an experimental procedure, to be accepted as a legitimate mainstream therapy for patients with end-stage pulmonary disease. Now lung transplantation offers patients with end-stage lung disease acceptable quality of life and matches a 5-year survival rate of other solid organ transplants. In the present report, we present our initial experience in performing two single lung transplantations done in our centre.