Case report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.

Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.

Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.

Thyroid disorders in patients with human immunodeficiency virus infection: a meta-analysis.

Background: Thyroid disorders have significant clinical sequelae, including impaired growth in children, metabolic abnormalities, and impaired cognitive function. However, available studies on burden of thyroid diseases in people with human immunodeficiency virus (HIV), particularly its prevalence and its interaction with HIV related factors (like CD4 count), are controversial. This review aimed to provide a comprehensive summary and analysis on the extent of thyroid dysfunctions in this population.

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Myoclonus-dystonia syndrome (MDS, OMIM #159900) is an autosomal-dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities. Patients with MDS have a normal life expectancy with markedly reduced quality of life. Here, we report four family members diagnosed with MDS of variable severity due to a novel heterozygous splicing variant in SGCE (c.

A Comparative Effect of Different Herbal Products on Lipid Metabolism and Hepatic Tissue: An Experimental Study on a Rat Model.

Background Dysregulation of lipid metabolism can lead to conditions such as hyperlipidemia, obesity, cardiovascular diseases, and hepatic steatosis. A high-fat diet (HFD) results in dysregulation of lipid metabolism and may primarily convert liver tissue to develop inflammation and fibrosis. Slimming pills, Japanese powder tea, and Shahana tea are common green teas that commercials have used for hyperlipidemia, obesity, and liver protection.

A systematic review and meta-analysis assessing the impact of pentoxifylline on the healing and recurrence of venous leg ulcers.

Introduction: Venous leg ulcers (VLU) are the most severe manifestation of venous insufficiency and carry a poor prognosis because of delayed healing and recurrent ulceration. Pentoxifylline (PTX) is an example of a vasoactive medication that can be used alongside compression therapy to help improve ulcer healing rates. A previous review highlighted improved healing of VLU with PTX, although no analysis was made for complete ulcer healing and recurrence following treatment.

Disparities in Peripheral Artery Disease-related Mortality in Chronic Inflammatory Disease in the United States from 1999 to 2020.

Introduction: Peripheral arterial disease (PAD) is a marker of significant atherosclerotic cardiovascular disease and is associated with greater healthcare burden and worse prognosis in individuals with chronic inflammatory disease (CID). We aimed to investigate temporal trends and disparities of PAD-related mortality in populations with CID from 1999-2020 across six common CIDs (i.e.

Accuracy of Fecal Polymerase Chain Reaction Testing in Clarithromycin-Resistant Helicobacter Pylori: A Systematic Review and Meta-Analysis.

Introduction: The increasing prevalence of clarithromycin (CLA)-resistant Helicobacter pylori(H. pylori) strains poses a significant challenge in the management of H. pylori infections.

Serum lipid profile abnormalities among beta-thalassemia patients: a systematic review and meta-analysis.

Background: Patients with betathalassemia have higher risk of various metabolic disturbances. The literature presents conflicting results about the patterns of abnormal lipid profile among patients with betathalassemia. This systematic review aimed to assess dyslipidemia patterns among patients with betathalassemia when compared with healthy individuals.

Perceived social support and associated factors among older people living in metropolitan cities of northwest Ethiopia: A community-based cross-sectional study.

Background: Perceived social support is a complex construct that includes tangible and supportive feedback in addition to emotional, instrumental, appraisal, and informational support. Social support shields older adults from the negative effects of aging, such as illness and death, as well as the negative outcomes of stressful life events. The purpose of this study was to assess the perceived social support and associated factors among older people residing in metropolitan cities in northwest Ethiopia, as there is a dearth of evidence regarding this topic, particularly in the study area.

Power stabilization of a terahertz-frequency quantum-cascade laser using a photonic-integrated modulator.

We demonstrate a technique to stabilize the emission from a 3.4-THz quantum-cascade laser against power drifts, using a recently developed photonic integrated circuit (PIC) structure formed by coupling a racetrack resonator with a ridge waveguide. This structure enables a dynamic power-control range of ±15% and locking over >600 s using a proportional-integral control loop.

Thermal imaging as a diagnostic tool for superficial venous insufficiency - a systematic review.

Objectives: Evaluation of the literature assessing the use of thermography, a non-invasive imaging modality that detects pathological temperature variation, in recognising superficial venous insufficiency (SVI).

Methods: A systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Articles were screened by two individuals and data was subsequently extracted.

Embolic Materials' Comparison in Meningeal Artery Embolization for Chronic Subdural Hematomas: Multicenter Propensity Score-Matched Analysis of 1070 Cases.

Background And Objectives: Multiple preferences exist for embolic materials selection in middle meningeal artery embolization (MMAE) for chronic subdural hematoma with limited comparative literature data. Herein, we compare different embolic materials.

Methods: Consecutive patients undergoing MMAE for chronic subdural hematoma at 14 North-American centers (2018-2023) were classified into 3 groups: (a) particles, (b) Onyx, (c) n-butyl cyanoacrylate (n-BCA).

Public Knowledge and Awareness About Hemorrhoids and the Reasons for Late Presentation to Local Doctors in Makkah Region, Saudi Arabia: A Cross-Sectional Exploratory Study.

Background Hemorrhoids, also known as piles, manifest as anal lumps with or without bleeding. This study aims to explore and assess the public knowledge and awareness about hemorrhoids and the factors leading to late presentation to local doctors in the Makkah region of Saudi Arabia. Methodology A questionnaire-based, cross-sectional study was conducted targeting the Saudi population aged 18 years and more living in the Makkah region.

Patterns of Dynamic Adaptability of the Circle of Willis in Response to Major Branch Artery Coverage With a Flow Diverter.

Background: The plasticity of the Circle of Willis represents an underexplored yet intriguing dimension of vascular anatomy in cerebrovascular disorders. We outline distinct patterns of change in response to aneurysm treatment using flow diversion (FD) after covering major branches.

Methods: Retrospective analysis of digital subtraction angiographies from intracranial aneurysms treated with FD from 2013 to 2023.

Nurses' perceptions of caring behaviors at referral hospitals in Ethiopia: A mixed-methods approach.

Background: Caring plays a vital role in nursing and serves as an indicator of quality. Nurse caring behaviors are directed towards patients' safety and wellbeing. Nurses' perceptions of caring behaviors are affected by different factors.

SLMAP3 is crucial for organogenesis through mechanisms involving primary cilia formation.

SLMAP3 is a constituent of the centrosome and is known to assemble with the striatin-interacting phosphatase and kinase (STRIPAK) complex, where it has been reported to repress Hippo signalling. The global knockout of SLMAP3 in mice results in embryonic/perinatal lethality and stunted growth without changes in the phosphorylation status of YAP. Diverse phenotypes present in the SLMAP3 embryos include reduced body axis, small and abnormal organs resembling defects in planar cell polarity (PCP) signalling, while also displaying the notable polycystic kidneys, a known manifestation of ciliopathies.

Enhancing medical training in conflict zones and remote areas through innovation: introducing the Canadian Virtual Medical University Initiative.

Background: The WHO projects a global shortage of 4.3 million physicians by 2030, with the largest deficits in developing and conflict-affected regions. Our aim is to train competent physicians rapidly and affordably through remote education programs.

The value and significance of nucleolar organizer region proteins as markers of malignancy in breast cancer patients.

Objectives: To assess argyrophilic nucleolar organizer regions (AgNORs) in 60 patients with primary breast carcinoma and evaluated their association with clinical prognostic parameters of breast cancer.

Methods: Argyrophilic nucleolar organizer regions were stained in paraffin sections of the tissues using Ploton's silver method. For each sample, the number of AgNORs within the nuclei of 100 tumor cells was counted.