Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.

Quantifying radiation exposure in the radiological investigation of non-arthritic hip pain.

Radiological investigations are essential for evaluating underlying structural abnormalities in patients presenting with non-arthritic hip pain. The aim of this study is to quantify the radiation exposure associated with common radiological investigations performed in assessing patients presenting with non-arthritic hip pain. A retrospective review of our institutional imaging database was performed.

Rationale and concerns for using JAK inhibitors in axial spondyloarthritis.

Axial spondyloarthritis (axSpA) is a chronic illness with limited treatment options. The role of Janus kinase (JAK) inhibition as a therapeutic option has increasingly become a focus of research in recent years as they have brought a new mode of action to the clinical armamentarium. This review assesses the efficacy and safety profile of these drugs in axSpA.

Green Synthesis of Zinc Oxide Nanoparticles: Preparation, Characterization, and Biomedical Applications - A Review.

Over the last decade, biomedical nanomaterials have garnered significant attention due to their remarkable biological properties and diverse applications in biomedicine. Metal oxide nanoparticles (NPs) are particularly notable for their wide range of medicinal uses, including antibacterial, anticancer, biosensing, cell imaging, and drug/gene delivery. Among these, zinc oxide (ZnO) NPs stand out for their versatility and effectiveness.

Geotechnical and geophysical investigations for infrastructure safety zones: a case study of the supporting ring road, Cairo, Egypt.

This study aims to evaluate the suitability of subsurface layers for infrastructure development using geophysical and geotechnical studies. Six seismic refraction and six 2D geoelectic profiles were conducted in the study area to analyze the geotechnical characteristics of the subsoil in order to assess its suitability for construction projects. According to the geophysical investigation, there are two main geoelectric strata, each with a different lithology and thickness.

Troponin I levels in systemic sclerosis patients with myocardial involvement.

Objectives: Troponin I has been suggested as a more specific diagnostic biomarker for myocardial involvement in systemic sclerosis than the frequently used troponin T. The aim of this study is to evaluate the additive value of troponin I to detect myocardial involvement in systemic sclerosis. To this end, we evaluated the association between troponin I levels and myocardial involvement in systemic sclerosis patients.

Evaluating the Effectiveness of an Online Targeted Education Programme on Vascular Surgery Aimed at Early Postgraduate Doctors.

Introduction Mind The Bleep (MTB) is a junior doctor-led online education organisation that produces free open-access medical education (FOAMed) resources. This paper describes MTB vascular surgery online education programme. The target audience was early postgraduate doctors completing a rotation in vascular surgery.

The relationship between Zoster serology, vaccination uptake and infection rates: a single-centre cross-sectional study.

Objective: This study aimed to assess the prevalence of Varicella-Zoster Virus (VZV) immunity, vaccination uptake and incidence of VZV-related events in inflammatory arthritis (IA) patients initiating biologic or targeted synthetic disease-modifying antirheumatic drugs.

Methods: An observational study was conducted in a single hospital between March 2019 and December 2020. Ninety-three IA patients were included.

Association between Left Atrial Function and Survival in Systemic Sclerosis.

Systemic sclerosis (SSc) is a multisystemic autoimmune disorder in which cardiac involvement is frequent and portends negative prognosis. Left ventricular (LV) diastolic dysfunction is one of the most common cardiac alterations in these patients, and left atrial (LA) reservoir strain (Ɛ) measurement using speckle tracking echocardiography has been proposed as a novel parameter for a better assessment of LV diastolic function. Therefore, the aim of this study was to test the prognostic value of Ɛ in a large multicenter cohort of SSc patients.

Social media addiction, personality traits, and disorders: an overview of recent literature.

Purpose Of Review: The rapid proliferation of social media has raised concerns regarding the maladaptive use of these platforms. Individuals exhibiting specific personality traits and disorders may be particularly vulnerable to the adverse outcomes associated with social media addiction. Despite the increasing research attention this topic has received, the relationship between personality traits, personality disorders, and addiction to social media remains fragmented and unclear.

Pulmonary manifestations associated with positive anti neutrophil cytoplasmic antibodies: The tip of the iceberg.

Background: Even though anti-neutrophil cytoplasmic antibodies (ANCA) are frequently linked to ANCA associated vasculitis (AAV), it's important to understand that other illnesses, including lung diseases, can also manifest as ANCA positivity. Finding the incriminated pathology might be difficult.

Aim: To report four ANCA-associated cases with a diagnosis problem.

Influences of Bacillus pumilus SA388 as an environmentally friendly antibiotic alternative on growth performance, blood biochemistry, immunology, cecal microbiota, and meat quality in broiler chickens.

The widespread use of antibiotics causes the development of antibiotic-resistant bacterial strains, which have a severe impact on poultry productivity and human health. As a result, research is continuing to develop safe natural antibiotic alternatives. In the current study, Bacillus pumilus SA388 was isolated from the chicken feces and confirmed to be a probiotic.

Muscle-Tendon Unit Properties in Mice Bred for High Levels of Voluntary Running: Novel Physiologies, Coadaptation, Trade-Offs, and Multiple Solutions in the Evolution of Endurance Running.

AbstractMuscle-tendon unit (MTU) morphology and physiology are likely major determinants of locomotor performance and therefore Darwinian fitness. However, the relationships between underlying traits, performance, and fitness are complicated by phenomena such as coadaptation, multiple solutions, and trade-offs. Here, we leverage a long-running artificial selection experiment in which mice have been bred for high levels of voluntary running to explore MTU adaptation, as well as the role of coadaptation, multiple solutions, and trade-offs, in the evolution of endurance running.

Diagnosis and management of bacterial meningitis in adult Sudanese patients: a six years hospital based, retrospective, cross-sectional study.

Purpose: To evaluate the diagnosis and management of bacterial meningitis in adult Sudanese patients in accordance with the Infectious Diseases Society of America (IDSA) guidelines for bacterial meningitis management.

Patients And Methods: A cross-sectional, retrospective study design was used to recruit all patients aged > 18 years who were diagnosed with or suspected of having bacterial meningitis and admitted to Wad Medani Teaching Hospital, Gezira State, Sudan, between January 2017 and October 2022.

Results: In total, 201 patients were included in the analysis.

Deciphering Pre-existing and Induced 3D Genome Architecture Changes involved in Constricted Melanoma Migration.

Metastatic cancer cells traverse constricted spaces that exert forces on their nucleus and the genomic contents within. Cancerous tumors are highly heterogeneous and not all cells within them can achieve such a feat. Here, we investigated what initial genome architecture characteristics favor the constricted migratory ability of cancer cells and which arise only after passage through multiple constrictions.

Unravelling the complex interplay of age, comorbidities, and multimorbidities in COVID-19 disease progression: Clinical implications and future perspectives.

Introduction: The COVID-19 infection as an inflammatory disease has posed significant challenges to global public health due to multi-factor risks associated with it leading to disease severity and mortality. Understanding the effect of age and comorbidities on overall disease progression is crucial to identify highly susceptible individuals and to develop effective disease management strategies in a resource limited country like Pakistan.

Methodology: A retrospective study was conducted on hospitalized COVID-19 patients to assess the prevalence of various comorbidities among different age groups and their effect on disease severity and mortality rate.

Neurological presentation does not always mean a neurological diagnosis.

This case article takes you on a journey starting with a paediatric patient presenting with sudden-onset lower limb paralysis and paraesthesia. Differential diagnoses, investigations and management are discussed as the case progresses, ultimately leading to the underlying cause.

Robotic arthroplasty software training improves understanding of total knee arthroplasty alignment and balancing principles: a randomized controlled trial.

Understanding alignment and gap balancing in Total Knee Arthroplasty (TKA) can be challenging for trainee and experienced orthopedic surgeons. Traditional learning methods may not effectively translate to real-life scenarios. The advent of advanced technologies like robotic surgery and navigation systems has revolutionized intraoperative understanding of gap balancing techniques.

The influence of dietary supplementation with fermented agro-industrial residue of faba bean on Japanese quail performance, immunity, gut microbiota, blood chemistry, and antioxidant status.

Antibiotic overuse in poultry feeds has disastrous implications; consequently, long-term alternatives must be developed. As a result, the current study aims to assess the impact of Aspergillus niger filtrate (ANF) high in organic acids grown on agro-industrial residue of faba bean (AIRFB) on quail diet, as well as their influence on bird productivity, digestion, carcass yield, blood chemistry, and intestinal microbiota. A total of 240 Japanese quails (aged 7 d) were used in this study, divided equally among 5 experimental groups with 48 quails each.