Publications by authors named "Javaid K"

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.

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Ethnopharmacological Relevance: Rheum webbianum Royle (RW) holds significant ethnopharmacological importance owing to its 5000-year history of cultivation for medicinal and culinary purposes. Demonstrating therapeutic advantages in traditional and contemporary medical practices, RW exhibits key pharmacological effects including anticancer activity, gastrointestinal control, anti-inflammatory properties, and suppression of fibrosis. Despite its recognized vast bioactivities in ethnopharmacology, its efficacy against the colorectal cancer (CRC) remains incompletely understood.

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Article Synopsis
  • AI technology is being widely used in dermatology for assessing and diagnosing skin conditions, utilizing algorithms and language models to mimic human problem-solving.
  • A literature review highlighted challenges faced by AI programs, particularly their difficulty in accurately identifying skin lesions in skin of color (SOC) due to underrepresentation in data sets.
  • Only 30% of existing programs reported effectiveness in SOC, indicating a need for improved image quality and more inclusive datasets for better AI performance in dermatology.
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The dynamic interplay between urbanization and its impacts on climate is a subject of recent concern, particularly in rapidly urbanizing cities of Pakistan. This research investigated the spatio-temporal effects of urban growth in terms of Land Use Land Cover changes on the thermal environment (Land Surface Temperature) of the Sialkot city, Pakistan using satellite data spanning four distinct time periods (1989, 2000, 2009 and 2020) and predicted changes for year 2030 by employing Cellular Automata Markov Chain Model. Satellite imagery (Landsat 5, 7 and 8) was processed, and maximum likelihood supervised classification was done to generate LULC maps for each of the aforementioned years.

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Background Instagram, a widely used social media platform with over two billion active users, has the potential to propagate dermatologic health information within the public sphere. However, there is a lack of representation of people of color (POC), making it crucial to share accurate and inclusive posts to increase awareness about dermatologic conditions. It is also necessary to address the misconceptions about skin diseases and other hereditary conditions within various ethnic groups.

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  • Whole genome sequencing (WGS) is being increasingly used to diagnose rare diseases, but traditional methods often have low diagnostic yields, typically 25-30%.
  • In a study involving 122 rare disease patients and their relatives, a comprehensive bioinformatics approach led to a diagnostic yield of 35%, with 39% solved when including novel gene candidates.
  • The study also identified several novel genes, expanded the phenotypic understanding of existing conditions, and resulted in critical changes to clinical diagnoses and treatments for some patients.
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  • * While White British patients had a higher body mass index (BMI) over 27 kg/m², South Asians had greater waist circumference, indicating different patterns of obesity.
  • * The study highlights the health disparities in diabetes and obesity among South Asians, suggesting a need for targeted public health strategies in countries with large South Asian populations.
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Objective: To examine the safety, efficacy and pharmacology of intravenous (IV), intramuscular (IM) and oral tranexamic acid (TXA) use in pregnant women.

Design: Randomised, open-label trial.

Setting: Hospitals in Pakistan and Zambia.

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Introduction: South Asian diaspora comprise one of the largest ethnic minority groups in the world yet data about atrial fibrillation (AF) in this demographic is understudied. Our aim is to identify differences in AF prevalence and treatment between South Asians and white British stroke patients.

Method: The UK arm of a prospective ongoing large international repository on stroke was analysed.

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Background And Purpose: Studies on stroke in South Asian populations are sparse. The aim of this study was to compare differences in age of onset of ischaemic stroke in South Asian patients living in the United Kingdom and South Asian patients living in India versus White British stroke patients.

Methods: We studied the UK and Indian arms of the ongoing BRAINS study, an international prospective hospital-based study of South Asian stroke patients.

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Purpose: To investigate whether the rate of Anti-Osteoporosis Medication (AOM) dispensing was related to prevalence of risk factors and hip fracture incidence in the local population.

Methods: The Open Prescribing database was used to analyse dispensed AOM at the level of Clinical Commissioning Groups (CCGs) in England. Male Healthy Life Expectancy (MHLE), Female Healthy Life Expectancy (FHLE), the prevalence of smoking and active adults, the incidence of hip fracture and of alcohol related hospital admissions, and local dispensing of a comparator drug (atorvastatin) were considered as predictor variables.

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Article Synopsis
  • * A subgroup analysis of data from a phase 3 study involving 134 adults revealed no significant differences in treatment benefits among 14 clinically relevant subgroups, including variations in sex, pain levels, and physical function.
  • * Overall, burosumab consistently showed better outcomes compared to placebo, suggesting it is beneficial for all symptomatic adults with active XLH, although some treatment effects were small and not statistically significant across subgroups. *
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Background: Postpartum haemorrhage (PPH) is a leading cause of maternal mortality worldwide. Maternal anaemia greatly increases the risk of PPH, and over a third of all pregnant women are anaemic. Because anaemia reduces the oxygen-carrying capacity of the blood, anaemic women cannot tolerate the same volume of blood loss as healthy women.

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Tuberculosis (TB) is caused by Mycobacterium tuberculosis. Host genetic factors are important for the detection of TB susceptibility. SLC11A1 is located in monocyte phagolysosomes that help to limit M.

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Background: Tranexamic acid reduces blood loss in surgery and the risk of death in trauma patients. Meta-analyses of small trials suggest that tranexamic acid decreases the number of deaths from gastrointestinal bleeding, but these meta-analyses are prone to selection bias.

Objective: The trial provides reliable evidence of the effect of tranexamic acid on mortality, rebleeding and complications in significant acute gastrointestinal bleeding.

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Intravenous tranexamic acid (TXA) within 3 hours of birth significantly reduces death due to bleeding in women with postpartum haemorrhage (PPH). Most PPH deaths occur in the first hours after giving birth and treatment delay decreases survival.  One barrier to rapid TXA treatment is the need for intravenous injection.

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To understand the acceptability and feasibility of sexually transmitted infection (STI) testing during antenatal care, along with the prevalence of STIs, in Rawalpindi, Pakistan. We enrolled pregnant women seeking antenatal care and performed STI testing using Cepheid GeneXpert® CT/NG and TV kits and Alere Determine™ HIV and syphilis tests. We used interviewer-administered surveys to collect medical, social, and sexual histories.

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Tuberculosis (TB) is a disease instigated by Mycobacterium tuberculosis. Peripheral blood monocytes represent highly efficient effector cells of innate immunity against TB. Little is known about monocyte subsets and their potential involvement in the development of M.

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Vertebral fractures are independent risk factors for vertebral and nonvertebral fractures. Since vertebral fractures are often missed, the relatively new introduction of vertebral fracture assessment (VFA) for imaging of the lateral spine during DXA-measurement of the spine and hips may contribute to detect vertebral fractures. We advocate performing a VFA in all patients with a recent fracture visiting a fracture liaison service (FLS).

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Objectives: To evaluate organisational reporting infrastructure and patient-related reporting data in the diagnosis of vertebral fragility fractures (VFFs) as demonstrated on computed tomography (CT).

Methods: Organisational and patient-specific questionnaires were developed by consensus between The Royal College of Radiologists, the Royal College of Physicians, and the Royal Osteoporosis Society. The patient-specific component of the audit involved analysis of CT reporting data acquired from 50 consecutive non-traumatic studies including the thoracolumbar spine.

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The article 'Algorithm for the management of patients at low, high and very high risk of osteoporotic fractures',written by J. A. Kanis, was originally published Online First without Open Access.

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Background: Tyramine derivatives 3-16 were prepared and tested first time for their α- glucosidase (Sources: Saccharomyces cerevisiae) inhibitory activity by using an in vitro mechanismbased biochemical assay. All the compounds were found to be new, except compounds 3, 10-12 and 16.

Objective: In continuation of our research to synthesize and identify potent inhibitors of α-glucosidase enzyme, we intended to synthesize new inhibitors of α-glucosidase enzyme with enhanced efficacy in order to provide the basis for the better treatment of the type-II diabetic.

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Unlabelled: Guidance is provided in an international setting on the assessment and specific treatment of postmenopausal women at low, high and very high risk of fragility fractures.

Introduction: The International Osteoporosis Foundation and European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis published guidance for the diagnosis and management of osteoporosis in 2019. This manuscript seeks to apply this in an international setting, taking additional account of further categorisation of increased risk of fracture, which may inform choice of therapeutic approach.

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