keyword
https://read.qxmd.com/read/38536562/exome-sequencing-identified-mutations-in-the-wnt1-and-col1a2-genes-in-osteogenesis-imperfecta-cases
#1
JOURNAL ARTICLE
Poonam Mehta, Rahul Vishvkarma, Sushil Gupta, Naibedya Chattopadhyay, Singh Rajender
BACKGROUND: Osteogenesis imperfecta (OI) is a heritable connective tissue disorder characterized by bone deformities, fractures and reduced bone mass. OI can be inherited as a dominant, recessive, or X-linked disorder. The mutational spectrum has shown that autosomal dominant mutations in the type I collagen-encoding genes are responsible for OI in 85% of the cases. Apart from collagen genes, mutations in more than 20 other genes, such as CRTAP, CREB3L1, MBTPS2, P4HB, SEC24D, SPARC, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, BMP1, TMEM38B, and IFITM5 have been reported in OI...
March 27, 2024: Molecular Biology Reports
https://read.qxmd.com/read/38536170/reduced-aqueous-humor-outflow-pathway-arborization-in-childhood-glaucoma-eyes
#2
JOURNAL ARTICLE
Shikha Gupta, Xiaowei Zhang, Arnav Panigrahi, Shakha, Raymond Fang, Clemens A Strohmaier, Hao F Zhang, Robert N Weinreb, Viney Gupta, Alex S Huang
PURPOSE: To compare aqueous humor outflow (AHO) pathway patterns between eyes of childhood glaucoma patients and non-glaucomatous patients receiving cataract surgery. METHODS: Aqueous angiography was performed in childhood glaucoma eyes (n = 5) receiving glaucoma surgery and in pediatric (n = 1) and healthy adult (n = 5) eyes receiving cataract surgery. Indocyanine green (0.4%) was introduced into the anterior chamber, and AHO was imaged using an angiographic camera (SPECTRALIS HRA+OCT with Flex Module)...
March 1, 2024: Translational Vision Science & Technology
https://read.qxmd.com/read/38535602/infections-in-disorders-of-immune-regulation
#3
REVIEW
Abarna Thangaraj, Reva Tyagi, Deepti Suri, Sudhir Gupta
Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it is sometimes associated with additional innate immune and T or NK cell defects. The use of immunotherapy and chemotherapy further complicates the immune landscape, increasing the risk of diverse infections...
March 17, 2024: Pathogens
https://read.qxmd.com/read/38535505/quantitative-proteomics-reveal-region-specific-alterations-in-neuroserpin-deficient-mouse-brain-and-retina-insights-into-serpini1-function
#4
JOURNAL ARTICLE
Shahab Mirshahvaladi, Nitin Chitranshi, Ardeshir Amirkhani, Rashi Rajput, Devaraj Basavarajappa, Roshana Vander Wall, Dana Pascovici, Angela Godinez, Giovanna Galliciotti, Joao A Paulo, Veer Gupta, Stuart L Graham, Vivek Gupta, Mehdi Mirzaei
Neural regeneration and neuroprotection represent strategies for future management of neurodegenerative disorders such as Alzheimer's disease (AD) or glaucoma. However, the complex molecular mechanisms that are involved in neuroprotection are not clearly understood. A promising candidate that maintains neuroprotective signaling networks is neuroserpin (Serpini1), a serine protease inhibitor expressed in neurons which selectively inhibits extracellular tissue-type plasminogen activator (tPA)/plasmin and plays a neuroprotective role during ischemic brain injury...
March 14, 2024: Proteomes
https://read.qxmd.com/read/38535019/existing-and-evolving-landscape-of-medulloblastoma-towards-optimization-and-personalization
#5
EDITORIAL
Tejpal Gupta, Abhishek Chatterjee
Advances in diagnostic imaging, pathology, and molecular biology coupled with improvements in neurosurgical approaches, radiotherapeutic techniques, and systemic therapies over the last two decades have vastly improved survival outcomes for medulloblastoma, the most common childhood malignant tumor [...].
March 12, 2024: Diagnostics
https://read.qxmd.com/read/38534928/adapting-an-adolescent-and-young-adult-program-housed-in-a-quaternary-cancer-centre-to-a-regional-cancer-centre-creating-equitable-access-to-developmentally-tailored-support
#6
JOURNAL ARTICLE
Marlie Smith, Simone Kurup, Kaviya Devaraja, Shaayini Shanawaz, Lorrie Reynolds, Jill Ross, Andrea Bezjak, Abha A Gupta, Alisha Kassam
Adolescents and young adults (AYAs) with cancer, representing those between 15 and 39 years of age, face distinctive challenges balancing their life stage with the physical, emotional, and social impacts of a cancer diagnosis. These challenges include fertility concerns, disruptions to educational and occupational pursuits, issues related to body image and sexual health, and the need for age-appropriate psychosocial support within their communities. The Princess Margaret Cancer Centre (PM), a quaternary care center, established a specialized AYA program in 2014, offering holistic and developmentally tailored psychosocial support and currently, efforts are underway to expand this to other regions in the province to address the need for equitable access...
February 27, 2024: Current Oncology
https://read.qxmd.com/read/38534805/knowledge-attitudes-and-practices-of-hand-hygiene-mask-use-and-social-distancing-among-public-hospital-and-polyclinic-nurses-in-barbados-during-the-coronavirus-2019-pandemic
#7
JOURNAL ARTICLE
Uma Gaur, Wendy Sealy, Ambadasu Bharatha, Natasha P Sobers, Kandamaran Krishnamurthy, Michael H Campbell, Cara Cumberbatch, Maia Drakes, Marielle Gibbs, Charisse Alexander, Heather Harewood, O Peter Adams, Subir Gupta, Ali Davod Parsa, Russell Kabir, Md Anwarul Azim Majumder
BACKGROUND: Nurses are essential members of the healthcare workforce and were among the first-line carers for patients in community and hospital settings during the COVID-19 pandemic. As a result, they were at a heightened risk of infection, resulting in several reported deaths among nursing staff. Several preventive measures were adopted to contain the spread of the COVID-19 virus. This study aims to explore the knowledge, attitudes, and practices (KAP) of nurses regarding hand hygiene, mask wearing, and social distancing measures in healthcare settings in Barbados during the COVID-19 pandemic...
March 6, 2024: Epidemiologia (Basel)
https://read.qxmd.com/read/38534740/covid-19-associated-cardiovascular-disease-risks-prevention-and-management-heart-at-risk-due-to-covid-19
#8
REVIEW
Andrew Kemerley, Abhishek Gupta, Mahesh Thirunavukkarasu, Monica Maloney, Sean Burgwardt, Nilanjana Maulik
The SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus-2) virus and the resulting COVID-19 pandemic have had devastating and lasting impact on the global population. Although the main target of the disease is the respiratory tract, clinical outcomes, and research have also shown significant effects of infection on other organ systems. Of interest in this review is the effect of the virus on the cardiovascular system. Complications, including hyperinflammatory syndrome, myocarditis, and cardiac failure, have been documented in the context of COVID-19 infection...
February 29, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38534090/autosomal-recessive-non-syndromic-hearing-loss-genes-in-pakistan-during-the-previous-three-decades
#9
REVIEW
Madiha Shadab, Ansar Ahmed Abbasi, Ahsan Ejaz, Afif Ben-Mahmoud, Vijay Gupta, Hyung-Goo Kim, Barbara Vona
Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non-syndromic hearing loss. Since the first linkage analysis with a Pakistani family that led to the mapping of the DFNB1 locus on chromosome 13, 51 genes associated with this disorder have been identified in this population...
April 2024: Journal of Cellular and Molecular Medicine
https://read.qxmd.com/read/38533961/correlates-of-plasma-nt-probnp-cyclic-gmp-ratio-in-heart-failure-with-preserved-ejection-fraction-an-analysis-of-the-relax-trial
#10
JOURNAL ARTICLE
Leonard Chiu, Vineet Agrawal, David Armstrong, Evan Brittain, Sheila Collins, Anna R Hemnes, Joseph A Hill, JoAnn Lindenfeld, Sanjiv J Shah, Lynne W Stevenson, Thomas J Wang, Deepak K Gupta
BACKGROUND: Phosphodiesterases degrade cyclic GMP (cGMP), the second messenger that mediates the cardioprotective effects of natriuretic peptides. High natriuretic peptide/cGMP ratio may reflect, in part, phosphodiesterase activity. Correlates of natriuretic peptide/cGMP in patients with heart failure with preserved ejection fraction are not well understood. Among patients with heart failure with preserved ejection fraction in the RELAX (Phosphodiesterase-5 Inhibition to Improve Clinical Status and Exercise Capacity in Heart Failure With Preserved Ejection Fraction) trial, we examined (1) cross-sectional correlates of circulating NT-proBNP (N-terminal pro-B-type natriuretic peptide)/cGMP ratio, (2) whether selective phosphodiesterase-5 inhibition by sildenafil changed the ratio, and (3) whether the effect of sildenafil on 24-week outcomes varied by baseline ratio...
March 27, 2024: Journal of the American Heart Association
https://read.qxmd.com/read/38533949/realization-of-organocerium-based-fullerene-molecular-materials-showing-mott-insulator-type-behavior
#11
JOURNAL ARTICLE
Pragati Pandey, Xiaoyu Wang, Himanshu Gupta, Patrick W Smith, Ekaterina Lapsheva, Patrick J Carroll, Alexandra M Bacon, Corwin H Booth, Stefan G Minasian, Jochen Autschbach, Eva Zurek, Eric J Schelter
Electron-rich organocerium complexes (C5 Me4 H)3 Ce and [(C5 Me5 )2 Ce( ortho -oxa)], with redox potentials E 1/2 = -0.82 V and E 1/2 = -0.86 V versus Fc/Fc+ , respectively, were reacted with fullerene (C60 ) in different stoichiometries to obtain molecular materials. Structurally characterized cocrystals: [(C5 Me4 H)3 Ce]2 ·C60 ( 1 ) and [(C5 Me5 )2 Ce( ortho -oxa)]3 ·C60 ( 2 ) of C60 with cerium-based, molecular rare earth precursors are reported for the first time. The extent of charge transfer in 1 and 2 was evaluated using a series of physical measurements: FT-IR, Raman, solid-state UV-vis-NIR spectroscopy, X-ray absorption near-edge structure (XANES) spectroscopy, and magnetic susceptibility measurements...
March 27, 2024: ACS Applied Materials & Interfaces
https://read.qxmd.com/read/38533919/accurate-robust-and-scalable-machine-abstraction-of-mayo-endoscopic-subscores-from-colonoscopy-reports
#12
JOURNAL ARTICLE
Anna L Silverman, Balu Bhasuran, Arman Mosenia, Fatema Yasini, Gokul Ramasamy, Imon Banerjee, Saransh Gupta, Taline Mardirossian, Rohan Narain, Justin Sewell, Atul J Butte, Vivek A Rudrapatna
BACKGROUND: The Mayo endoscopic subscore (MES) is an important quantitative measure of disease activity in ulcerative colitis. Colonoscopy reports in routine clinical care usually characterize ulcerative colitis disease activity using free text description, limiting their utility for clinical research and quality improvement. We sought to develop algorithms to classify colonoscopy reports according to their MES. METHODS: We annotated 500 colonoscopy reports from 2 health systems...
March 26, 2024: Inflammatory Bowel Diseases
https://read.qxmd.com/read/38533877/carrier-screening-and-diagnosis-for-spinal-muscular-atrophy-using-droplet-digital-pcr-versus-mlpa-analytical-validation-and-early-test-outcome
#13
JOURNAL ARTICLE
Dolat Singh Shekhawat, Siyaram Didel, Shilpi Gupta Dixit, Pratibha Singh, Kuldeep Singh
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of SMN gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. Methods: Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for SMN1 and SMN2 genes...
March 27, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38533652/co-overexpression-of-sweet-sucrose-transporters-modulates-sucrose-synthesis-and-defence-responses-to-enhance-immunity-against-bacterial-blight-in-rice
#14
JOURNAL ARTICLE
Jitender Singh, Donald James, Shubhashis Das, Manish Kumar Patel, Rashmi Ranjan Sutar, V Mohan Murali Achary, Naveen Goel, Kapuganti Jagadis Gupta, Malireddy K Reddy, Gopaljee Jha, Ramesh V Sonti, Christine H Foyer, Jitendra Kumar Thakur, Baishnab C Tripathy
Enhancing carbohydrate export from source to sink tissues is considered to be a realistic approach for improving photosynthetic efficiency and crop yield. The rice sucrose transporters OsSUT1, OsSWEET11a and OsSWEET14 contribute to sucrose phloem loading and seed filling. Crucially, Xanthomonas oryzae pv. oryzae (Xoo) infection in rice enhances the expression of OsSWEET11a and OsSWEET14 genes, and causes leaf blight. Here we show that co-overexpression of OsSUT1, OsSWEET11a and OsSWEET14 in rice reduced sucrose synthesis and transport leading to lower growth and yield but reduced susceptibility to Xoo relative to controls...
March 27, 2024: Plant, Cell & Environment
https://read.qxmd.com/read/38533590/comment-on-comparison-of-the-pericapsular-nerve-group-block-with-the-intra-articular-and-quadratus-lumborum-blocks-in-primary-total-hip-arthroplasty-a-randomized-controlled-trial
#15
JOURNAL ARTICLE
Anju Gupta, Nitin Choudhary, Nishkarsh Gupta
No abstract text is available yet for this article.
March 27, 2024: Korean Journal of Anesthesiology
https://read.qxmd.com/read/38533313/beyond-divest-vs-engage-a-review-of-the-role-of-institutional-investors-in-an-inclusive-fossil-fuel-phase-out
#16
REVIEW
Clara McDonnell, Joyeeta Gupta
Institutional investors, who control as much as $154 trillion globally, may play an important role in shaping the energy transition as major stakeholders in fossil fuel producing, distributing and consuming companies. Research on investors and fossil fuels has focused largely on the divestment movement or on shareholder engagement. However, given their limited success to date, additional strategies to influence the fossil fuel sector are merited. This review paper expands the scope of attention to investors, asking: what strategies for influencing the fossil fuel industry are available to institutional investors and what are the implications of these for achieving an inclusive fossil fuel phase-out? Through a systematic review of 153 papers, we identify seven strategies for influencing the fossil fuel phase-out: divestment, shareholder engagement, hiring practices, engaging the financial sector, engaging indirect financial actors, litigation, and green investment...
2024: Clim Policy
https://read.qxmd.com/read/38533289/screening-of-individuals-with-type-2-diabetes-on-anti-diabetic-agents-for-probable-hypoglycaemia-using-the-stanford-hypoglycemia-questionnaire-shq-in-outpatient-settings-a-cross-sectional-study-from-outpatient-diabetes-care-centres-in-north-india
#17
JOURNAL ARTICLE
Rajiv Awasthi, Arun K Pande, Kumar P Chandra, Vivek Agarwal, Mukulesh Gupta, Ajoy Tewari, Nitin Gupta, Santosh Chaubey, Sandeep Chaudhary, Sajid Ansari, Dinesh Kumar
INTRODUCTION: The study was aimed at identifying the incidence of unreported probable hypoglycaemia in individuals with type 2 diabetes (T2DM) on anti-diabetic medications, using the screening Stanford Hypoglycemia Questionnaire (SHQ) in real-world situations. METHODS: It was a multicentre cross-sectional study on consecutive individuals attending 10 diabetes care centres in Lucknow, Uttar Pradesh, India. The inclusion criteria were as follows: known individuals with T2DM, literate, age greater than or equal to 18 years, on at least one anti-diabetic agent for more than a month and not engaged in regular self-monitoring of blood glucose (SMBG)...
2024: Indian Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/38533150/mid-ventricular-takotsubo-cardiomyopathy-with-coexisting-myocardial-bridge
#18
Jasmine Dugal, Michael V DiCaro, Blaine Massey, Neelesh Gupta, Ahsan H Choudhury
Typical takotsubo cardiomyopathy (TCM) is a reversible form of myocardial injury that presents with a characteristic ballooning abnormality of the left ventricular apex. Typical TCM has been associated with myocardial bridging; however, mid-ventricular variant TCM has not. We describe a rare case of mid-ventricular variant TCM with a coexisting left anterior descending artery myocardial bridge and discuss management strategies. Furthermore, we propose potential pathophysiological mechanisms that may contribute to the symptomatic presentation of both conditions as a manifestation of common etiological factors...
February 2024: Curēus
https://read.qxmd.com/read/38532943/left-atrial-appendage-occlusion-british-cardiovascular-intervention-society-and-british-heart-rhythm-society-position-statement
#19
REVIEW
Tim R Betts, Patrick A Calvert, Lee N Graham, Gerald J Clesham, Ashan Gunarathne, Brian Clapp, Dhiraj Gupta, Jan Kovac, James D Newton, David Hildick-Smith
Percutaneous left atrial appendage occlusion aims to reduce the risk of stroke in patients with AF, particularly those who are not good candidates for systemic anticoagulation. The procedure has been studied in large international randomised trials and registries and was approved by the National Institute for Health and Care Excellence in 2014 and by NHS England in 2018. This position statement summarises the evidence for left atrial appendage occlusion and presents the current indications. The options and consensus on best practice for pre-procedure planning, undertaking a safe and effective implant and appropriate post-procedure management and follow-up are described...
2024: Interventional Cardiology
https://read.qxmd.com/read/38532700/protein-structure-function-continuum-model-emerging-nexuses-between-specificity-evolution-and-structure
#20
REVIEW
Munishwar Nath Gupta, Vladimir N Uversky
The rationale for replacing the old binary of structure-function with the trinity of structure, disorder, and function has gained considerable ground in recent years. A continuum model based on the expanded form of the existing paradigm can now subsume importance of both conformational flexibility and intrinsic disorder in protein function. The disorder is actually critical for understanding the protein-protein interactions in many regulatory processes, formation of membrane-less organelles, and our revised notions of specificity as amply illustrated by moonlighting proteins...
April 2024: Protein Science
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