A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.

Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder accounting for almost 70% of the total congenital hearing loss. The implementation of rapid advanced sequencing methods has significantly contributed to the correct molecular diagnosis for several rare genetic disorders, including NHSL. Features of two probands with NHSL were clinically and genetically evaluated.

Kinematic limitations during stair ascent and descent in patients with adult spinal deformity.

Background: Adults with spinal deformity (ASD) are known to have spinal malalignment, which can impact their quality of life and their autonomy in daily life activities. Among these tasks, ascending and descending stairs is a common activity of daily life that might be affected.

Research Question: What are the main kinematic alterations in ASD during stair ascent and descent?

Methods: 112 primary ASD patients and 34 controls filled HRQoL questionnaires and underwent biplanar X-from which spino-pelvic radiographic parameters were calculated.

Association of corneal endothelial cell morphology with neurodegeneration in mild cognitive impairment and dementia.

Introduction: Corneal confocal microscopy (CCM) detects neurodegeneration in mild cognitive impairment (MCI) and dementia and identifies subjects with MCI who develop dementia. This study assessed whether abnormalities in corneal endothelial cell (CEC) morphology are related to corneal nerve morphology, brain volumetry, cerebral ischemia, and cognitive impairment in MCI and dementia.

Methods: Participants with no cognitive impairment (NCI), MCI, and dementia underwent CCM to quantify corneal endothelial cell density (CECD) and area (CECA), corneal nerve fiber morphology, magnetic resonance imaging (MRI) brain volumetry, and severity of brain ischemia.

Management of metastatic colorectal cancer: consensus in the Gulf Cooperation Council countries.

Colorectal cancer (CRC) represents a major public health challenge globally, particularly in the Gulf Cooperation Council (GCC) countries, where it is identified as the second most prevalent form of cancer. Despite advancements in management strategies, tailored guidelines specific to the Gulf region are lacking. This paper presents consensus recommendations developed by a panel of experts from the GCC countries to address this gap.

Prevalence of polycystic ovary syndrome among infertile women in the Gulf Cooperation Council (GCC) countries: A systematic review and meta-analysis.

Background: Polycystic ovary syndrome (PCOS) is a significant contributor to female infertility and other various metabolic disorders. This systematic review estimates the prevalence of PCOS among infertile women in the Gulf Cooperation Council (GCC) countries.

Methods: The study searched five databases (PubMed, Embase, CINAHL, Web of Science, and SCOPUS), from their inception to 2022 for observational studies conducted in GCC countries.

Enhancing the quality of lentil proteins via combination with whey proteins based on a dual process: a novel strategy through the incorporation of complexation and fermentation.

In recent years, there has been a growing interest in developing a distinguished alternative to human consumption of animal-based proteins. The application of lentil proteins in the food industry is typically limited due to their poor solubility and digestibility. An innovative method of balancing lentil-whey protein (LP-WP) complexes with higher-quality protein properties was established to address this issue, which coupled a pH-shifting approach with fermentation treatment.

TCellPredX: A Novel Approach for Accurate Prediction of Hepatitis C Virus Linear T Cell Epitopes.

Hepatitis C Virus (HCV) is a bloodborne RNA virus that leads to severe liver diseases, and currently, no effective prophylactic biologics are available to prevent its transmission. The prevention of HCV is closely related to the major histocompatibility complex (MHC). Linear antigenic peptides of HCV, known as T cell epitopes (TCEs), are crucial in the presentation process by MHC molecules to T cells, playing a key role in immune responses.

Adult-onset Langerhans cell histiocytosis with multisystem involvement: A rare case report.

Langerhans cell histiocytosis (LCH) is a rare disorder, especially among adults, characterized by abnormal accumulation of dendritic histiocytes in various tissues, presenting as either single- or multi-system disease. In adults, spinal involvement is less common than long bone, while central nervous system manifestations, such as pituitary gland enlargement and stalk thickening, affect about a quarter of adult patients and may lead to significant endocrine disorders. Salivary gland involvement is another extremely rare manifestation of LCH.

More injury stoppage time in women compared to men in elite level football tournaments: Retrospective comparison of match injuries in 2018 FIFA Men's World Cup and 2019 FIFA Women's World Cup.

To identify the incidence of injury time-out due to field injuries in highest level professional football (soccer) international tournaments and to compare the features of these incidents between men's and women's football. The incidence of stoppage time due to incidents and the resulting injury characteristics of professional football players participating in the 2018 FIFA Men's World Cup (MWC) in Russia and the 2019 FIFA Women's World Cup (WWC) in France were examined retrospectively through video analysis. In the 2018 MWC, a total of 123 injury time-outs with 132 treatments occurred in 64 matches, while in the 2019 WWC, 142 incidents with 150 injured players were recorded in 52 matches.

Evolution of injury burden in Qatari professional football - 8 season data from the Aspetar Injury and Illness Surveillance Programme.

Prospectively collected injury surveillance data are essential for designing and implementing injury prevention programmes. We investigated the incidence, characteristics and patterns of professional football injuries in Qatar, providing details on the most observed injuries' burden. We prospectively recorded individual time-loss injuries and training/match exposure from 17 professional football teams in Qatar during 8 seasons (2014/15 to 2021/22).

Peak match sprinting speed during soccer matches: analysing the pre- and post-peak speed dynamics.

This study aimed to characterize match peak speeds, during a 20-second time window (10 seconds immediately before and after the match peak speed), in soccer matches. Twenty elite soccer players were monitored with global navigation satellite system (GNSS) devices during six soccer matches from the Brazilian first division. After identifying the peak speed, individual speeds within 10 seconds before and 10 seconds after were collected at each 0.

Streamlining incident reporting system: A lean approach to enhance patient and staff safety in a Middle Eastern prehospital emergency care setting.

Incident reporting in Emergency Medical Services (EMS) is vital for enhancing patient safety and system performance, but time constraints often impede efficient documentation. Hamad Medical Corporation Ambulance Service Group (HMCASG) implemented a streamlined "Occurrence, Variance, and Accident" (OVA) reporting system to address these challenges. This study evaluated the effectiveness of this system in reducing incident report completion time.

Fecal Metaproteomics as a Tool to Monitor Functional Modifications Induced in the Gut Microbiota by Ketogenic Diet: A Case Study.

Metaproteomics is a valuable approach to characterize the biological functions involved in the gut microbiota (GM) response to dietary interventions. Ketogenic diets (KDs) are very effective in controlling seizure severity and frequency in drug-resistant epilepsy (DRE) and in the weight loss management in obese/overweight individuals. This case study provides proof of concept for the suitability of metaproteomics to monitor changes in taxonomic and functional GM features in an individual on a short-term very low-calorie ketogenic diet (VLCKD, 4 weeks), followed by a low-calorie diet (LCD).

Current status and innovative developments of CAR-T-cell therapy for the treatment of breast cancer.

Breast cancer will overtake all other cancers in terms of diagnoses in 2024. Breast cancer counts highest among women in terms of cancer incidence and death rates. Innovative treatment approaches are desperately needed because treatment resistance brought on by current clinical drugs impedes therapeutic efficacy.

Effectiveness of a scapular exercise program on functional outcomes in patients with hand, wrist or elbow disorders: A comprehensive systematic review with meta-analysis.

Background: Usually, patients with hand, wrist/forearm disorders report musculoskeletal complaints in the shoulder. Although, role of scapula is fundamental for movement and functional stability across the upper limb kinetic chain; however, there are no systematic reviews and meta-analyses that have analyzed the effect of scapular exercises in these patients.

Purpose: This study aimed to determine the effectiveness of a scapular exercise program on functional outcomes in patients with hand, wrist or elbow disorders.

Systematic review of the association between thyroid disorders and hyperprolactinemia.

Introduction: Thyroid disease (TD), particularly hypothyroidism, is an important etiology of hyperprolactinemia (HPRL). We conducted a systematic review of the clinical characteristics, management, and outcomes of adults (> 18 years) with this clinical association.

Materials And Methods: We searched PUBMED, SCOPUS, and EMBASE to find eligible articles published in English from any date till 15th December 2022.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.

Towards secure and trusted AI in healthcare: A systematic review of emerging innovations and ethical challenges.

Introduction: Artificial Intelligence is in the phase of health care, with transformative innovations in diagnostics, personalized treatment, and operational efficiency. While having potential, critical challenges are apparent in areas of safety, trust, security, and ethical governance. The development of these challenges is important for promoting the responsible adoption of AI technologies into healthcare systems.

Recent Advancements and Applications of Nanosensors in Oral Health: Revolutionizing Diagnosis and Treatment.

Advances in the field of nanomaterials are laying the foundation for the fabrication of nanosensors that are sensitive, selective, specific, cost-effective, biocompatible, and versatile. Being highly sensitive and selective, nanosensors are crucial in detecting small quantities of analytes and early diagnosis of diseases. These devices, operating on the nanoscale, detect signals, such as physical, chemical, optical, electrochemical, or biological, and then transduce them into a readable form.

Spin Waves and Three Dimensionality in the High-Pressure Antiferromagnetic Phase of SrCu_{2}(BO_{3})_{2}.

Quantum magnetic materials can provide explicit realizations of paradigm models in quantum many-body physics. In this context, SrCu_{2}(BO_{3})_{2} is a faithful realization of the Shastry-Sutherland model for ideally frustrated spin dimers, even displaying several of its quantum magnetic phases as a function of pressure. We perform inelastic neutron scattering measurements on SrCu_{2}(BO_{3})_{2} at 5.

Confidence in Prescribing Practices: Perspectives of Senior Medical Students and Recent Graduates at Qatar University.

Purpose: This study aimed to determine the perceptions of senior medical students and recent graduates from College of Medicine (CMED) at Qatar University regarding their undergraduate education and training related to prescribing, their confidence in achieving the learning outcomes specified in the curriculum and their preparedness to prescribe in practice.

Patients And Methods: This was a cross-sectional web-based survey with qualitative elements, utilizing a 22-item pre-validated questionnaire developed through a multi-phase iterative process. The survey was administered to all senior medical students (year 4-6) and recent graduates of CMED at Qatar University.

Transcatheter Aortic Valve Replacement in Hypertrophic Cardiomyopathy: A Systematic Review and Meta-Analysis.

Background: The co-existence of severe aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM) is not uncommon. Surgical intervention is the gold standard management. Patients with high surgical risk might undergo transcatheter aortic valve replacement (TAVR).

Review of biological variation and its applications in interpretation of equine clinical pathology results.

Biological variation in laboratory results refers to physiological fluctuations that occur around a homeostatic setpoint (HSP) for various laboratory measurands. Assessment of biological variation includes determining individual variation (CV), group variation (CV), and analytical variation (CV). Reference change value (RCV) is an objective tool for an evidence-based approach to interpret data by assessing the significance of consecutive results in an individual for the diagnosis, prognosis, and monitoring of disease.

Oral Food Challenge Protocols in Food Protein-Induced Enterocolitis Syndrome: A Systematic Review.

Background: Oral Food Challenges (OFC) are essential for the diagnosis and follow-up of acute Food Protein-Induced Enterocolitis Syndrome (FPIES) because no diagnostic or prognostic biomarkers are available. However, the optimal OFC procedure remains unclear.

Objectives: This systematic review aimed to assess OFC procedures' design and clinical outcomes in patients with FPIES.