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View article: A narrative review on the therapeutic potential of stem cells in neurodegenerative diseases: advances, insights, and challenges
A narrative review on the therapeutic potential of stem cells in neurodegenerative diseases: advances, insights, and challenges Open
Background: Neurodegenerative diseases (NDs) such as Parkinson’s Disease (PD), Alzheimer’s disease (AD), Amyotrophic Lateral Sclerosis (ALS), Huntington’s Disease (HD) are set apart by progressive neuronal loss and concomitant functional d…
View article: The Impact of Coronary Calcium Scores on the Development of Myocardial Ischemia: An Analysis of Associated Risk Factors
The Impact of Coronary Calcium Scores on the Development of Myocardial Ischemia: An Analysis of Associated Risk Factors Open
CAC scoring is an essential tool for evaluating the risk of myocardial ischemia and cardiovascular events, complementing traditional risk factors to improve stratification and enable more focused interventions for patients.
View article: Combined Laparoscopic and Hysteroscopic Management of Cesarean Scar Pregnancy: A Case Series
Combined Laparoscopic and Hysteroscopic Management of Cesarean Scar Pregnancy: A Case Series Open
Cesarean scar pregnancy (CSP) is an uncommon form of ectopic implantation associated with risks of severe hemorrhage, uterine rupture, and loss of fertility. With rising cesarean delivery rates, CSP is increasingly encountered, yet optimal…
View article: Muscle impairments in osteogenesis imperfecta: a narrative review
Muscle impairments in osteogenesis imperfecta: a narrative review Open
The aim of this review is to provide an overview of the available evidence on the effects of OI on skeletal muscle. This encompasses multiple components of muscle function, underlying biological and environmental factors, clinical and func…
View article: Comparison of Dexmedetomidine and Dexamethasone for Prevention of Postoperative Nausea and Vomiting after Laparoscopic Cholecystectomy.
Comparison of Dexmedetomidine and Dexamethasone for Prevention of Postoperative Nausea and Vomiting after Laparoscopic Cholecystectomy. Open
Introduction: Effective perioperative analgesia and hemodynamic stability are crucial for surgical outcomes. This study aimed to compare the efficacy of dexmedetomidine and paracetamol in managing intraoperative hemodynamics, postoperative…
View article: Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome
Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome Open
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare and complex condition caused by somatic variants in the GNAS gene that lead to a wide clinical spectrum. The diagnostic process and therapeutic pathway vary per centre and there…
View article: Double burdened yet resilient: quality of life of caregivers of people with X-linked hypophosphatemia
Double burdened yet resilient: quality of life of caregivers of people with X-linked hypophosphatemia Open
X-linked hypophosphatemia (XLH) is a rare genetic disorder that leads to rickets, osteomalacia, and other skeletal abnormalities. Many people with XLH get support from informal caregivers, often family members, to help with their daily liv…
View article: X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline Open
Purpose An international working group (IWG) consisting of experts in X-linked hypophosphatemia (XLH) developed global guidelines providing a comprehensive, evidence-based approach to XLH diagnosis, management, and monitoring. Methods The …
View article: A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia
A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia Open
Introduction X-linked hypophosphataemia (XLH) is a rare, genetic, renal phosphate wasting disorder that causes a lifelong rapid progression of morbidities, which are associated with substantial humanistic and economic burden. A structured …
View article: Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement
Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement Open
Asfotase alfa treatment improved mobility, physical function, pain, and HRQoL and was well tolerated. These data show the benefit of asfotase alfa in adults with paediatric-onset HPP.
View article: Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults
Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults Open
The guideline panel, comprising international experts in X-linked hypophosphatemia (XLH), patient partners from the XLH patient population, and guideline methodologists, held 18 teleconferences between January 2023 and July 2024 to develop…
View article: Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience
Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience Open
This report provides recommendations for X-linked hypophosphatemia (XLH) monitoring based on current monitoring practices of experts in the management of XLH in children (<18 years) and adults. We surveyed 43 international experts in XL…
View article: Long-term adherence to anti-osteoporosis medication and determinants of adherence in the population-based screening trial ROSE
Long-term adherence to anti-osteoporosis medication and determinants of adherence in the population-based screening trial ROSE Open
The original ROSE trial is registered at ClinicalTrials.gov (NCT01388244). The study protocol has been published in Rubin et al. The risk-stratified osteoporosis strategy evaluation study (ROSE): a randomized prospective population-based s…
View article: X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline Open
Context An International Working Group (IWG) developed new guidelines on the diagnosis, evaluation, management, and monitoring of X-linked hypophosphatemia (XLH) in children. Over the past 5 years, important advances have occurred in our u…
View article: Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia Open
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…
View article: Proposed variant of Myers' Index
Proposed variant of Myers' Index Open
This paper extends the Alternative Myers’ index Pal et al. (2014) as a common measure of the quality of age reporting in addition to Pal et al. (2014) past development using the data of selected Asian countries. The most recent wave of cou…
View article: Assessing and Managing Primary Hyperparathyroidism and Fracture Risk in England: A Survey of Medical Professionals
Assessing and Managing Primary Hyperparathyroidism and Fracture Risk in England: A Survey of Medical Professionals Open
Purpose To describe diagnostic approaches and management strategies for patients with primary hyperparathyroidism (PHPT) and recent fracture in England. Methods We developed a survey based on a patient at high fracture risk and a new diagn…
View article: Lessons learned from a multi-centre implementation of an artificial intelligence algorithm to detect vertebral fractures for radiology, information technology, information governance and clinical leads
Lessons learned from a multi-centre implementation of an artificial intelligence algorithm to detect vertebral fractures for radiology, information technology, information governance and clinical leads Open
Artificial intelligence (AI) algorithms have been developed to identify vertebral fractures through reanalysis of existing CT scans. This study describes a real-world case study of the deployment of an AI solution in the NHS, from informat…
View article: Synaptic Plasticity-Inspired Neuromorphic Deep Learning for Real-Time Recognition of Micro-Expressions in Neurodivergent Individuals
Synaptic Plasticity-Inspired Neuromorphic Deep Learning for Real-Time Recognition of Micro-Expressions in Neurodivergent Individuals Open
Identification of micro-expressions is crucial for interpreting small signals displaying emotions, particularly in neurodiverse individuals who may struggle with ordinary social signs. This paper comes with a brand-new neuromorphic deep le…
View article: Prediction of axillary lymph node metastasis in breast cancer patients based on ultrasonograhic-clinicopathologic features
Prediction of axillary lymph node metastasis in breast cancer patients based on ultrasonograhic-clinicopathologic features Open
Background & Objective: Determination of axillary lymph-node status plays a pivotal role in decision making for breast cancer treatment. Biopsy is the current standard of care but hold risks of complications as well. We aimed to find out t…
View article: TOTAL LYMPHOCYTE COUNT AS AN ALTERNATIVE TO CD4 COUNT IN MANAGMENT OF HIV/AIDS PATIENTS
TOTAL LYMPHOCYTE COUNT AS AN ALTERNATIVE TO CD4 COUNT IN MANAGMENT OF HIV/AIDS PATIENTS Open
Background: Initiation and monitoring of ART are based on CD4+ count which is however, costly and often inaccessible in resource restricted communities. TLC (total lymphocyte count) has been advocated over the years as a marker for progres…