Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.

Synergistic Anticancer Efficacy of Curcumin and Doxorubicin Combination Treatment Inducing S-phase Cell Cycle Arrest in Triple-Negative Breast Cancer Cells: An In Vitro Study.

Background: Curcumin (Cur) is a polyphenol phyto-compound found in turmeric () that inhibits tumorigenesis by introducing apoptosis and restricting cell survival and proliferation. This in vitro research article focuses on the pharmacodynamic interactions of Cur combined with the commercial drug doxorubicin (Doxo) to enhance the cytotoxicity of Doxo at lower doses against triple-negative breast cancer cells (MDA-MB-231) with the chemo-protective effect against normal HEK293 cells. In this study, we observed the dose-dependent cytotoxicity, increased reactive oxygen species (ROS) generation, and increased chromatin condensation in combination doses compared to single doses.

Percutaneous coronary intervention during the shortage of iodinated contrast.

Objectives: A recent coronavirus-related factory shutdown led to a global shortage of iodinated contrast. The authors evaluated how the contrast shortage impacted percutaneous coronary interventions (PCI).

Methods: Using a statewide database incorporating CathPCI registry data from 19 hospitals, the authors evaluated 2 time periods: pre-shortage (May 1, 2021 - April 30, 2022) and during the shortage (May 1, 2022 - October 31, 2022).

Allium chromosome evolution and DNA sequence localization.

Background: Molecular cytogenetics, utilizing DNA probes, serves as a critical tool for mapping genes to the physical structures of chromosomes.

Methods: In this study, we examined three Allium species: A. cepa L.

Clinical Value of Routine Follow-Up Radiographs in Total Joint Arthroplasty.

Background: Performing routine radiographs after total joint arthroplasty (TJA) in post-operative follow-up, typically at four weeks and 12 months, in addition to baseline radiographs obtained immediately post-operatively, is common practice in many institutions. Despite research indicating it may not alter management, it is associated with substantial financial, resource, and time costs. This study aimed to assess the impact of routine radiographs on the management of TJA patients in a UK district general hospital.

Thiol functionalized pH-responsive mucoadhesive hydrogel: Potential approach for site-specific delivery of 5 fluorouracil in colon cancer.

The present study aims to develop a novel thiolated carboxymethyl cellulose (CMC-SH) by the addition of aldehyde groups via oxidation followed by reductive amination and then develop CMC-SH based pH-responsive hydrogel by free radical polymerization approach while assessing its mucoadhesive and permeation-enhancing capabilities. By in-vitro characterization, the intended compound's chemical composition, thermal stability, and amorphous nature were analyzed for CMC-SH polymer. Ellman's assay was utilized to estimate the thiol content and permeation analysis was performed to evaluate its enhanced permeability characteristics.

The isolation of VCAM-1 endothelial cell-derived extracellular vesicles using microfluidics.

Vascular cell adhesion molecule-1 (VCAM-1) endothelial cell-derived extracellular vesicles (EC-EVs) are augmented in cardiovascular disease, where they can signal the deployment of immune cells from the splenic reserve. Endothelial cells in culture activated with pro-inflammatory tumor necrosis factor-α (TNF-a) also release VCAM-1 EC-EVs. However, isolating VCAM-1 EC-EVs from conditioned cell culture media for subsequent in-depth analysis remains challenging.

Phytochemical characterization and evaluation of the biological activity spectrum of ethanolic fruit extract of : a less explored plant of Ayurveda.

Objectives: (commonly known as kokum) has been employed in Ayurvedic and Siddha medicine since ancient times. Every part of the plant has its own set of advantages and applications. Therefore, the present evaluates the phytochemical composition and biological activity spectrum of the ethanolic fruit extract of

Methods: Ethanolic extract of fruits of (GIFEE) underwent TPC and TFC quantification, with bioactive components characterized GC-MS and HPLC.

Motion-Guided Deep Image Prior for Cardiac MRI.

Cardiovascular magnetic resonance imaging is a powerful diagnostic tool for assessing cardiac structure and function. Traditional breath-held imaging protocols, however, pose challenges for patients with arrhythmias or limited breath-holding capacity. We introduce Motion-Guided Deep Image prior (M-DIP), a novel unsupervised reconstruction framework for accelerated real-time cardiac MRI.

Successful esophagotomy after failed attempts of esophagoscopic retrieval of impacted denture.

Ingested foreign bodies, although fairly common among children, can present in individuals of all age. Most common risk factors for such cases in adults include psychiatric illness, alcohol abuse and ill-fitting dentures. Most of the ingested foreign bodies pass through the gastrointestinal tract but intervention maybe required in case of impaction, obstruction or perforation.

Freedom from infection: enhancing decision-making for malaria elimination.

Assessing elimination of malaria locally requires a surveillance system with high sensitivity and specificity to detect its presence without ambiguity. Currently, the WHO standard criteria of observing the absence of locally acquired cases for 3 consecutive years, combined with a health systems assessment, are used to justify claims of malaria elimination. However, relying on a qualitative framework to support the application of this guideline can lead to early, over-optimistic relaxation of control measures with the potential for resurgence.

The Subtle evolution of pulmonary parenchymal changes: A case of lady windermere syndrome emerging from chronic MAC infection in an immunocompetent patient with scoliosis.

Mycobacterium avium complex, a commonly seen infection in individuals with a compromised immune system, can also affect people who are immunocompetent. One particularly important manifestation is in elderly females with a competent immune system, involving the middle lobe and lingula lobe of the lung. This is known as Lady Windermere syndrome (LWS).

Assessment of community pharmacists' experiences and perceptions on gabapentin abuse in Jordan: a cross-sectional study.

Background: Gabapentin is increasingly recognised for its potential for abuse, raising concerns within healthcare communities. Community pharmacists are on the front lines in identifying and addressing instances of gabapentin abuse, making their insights invaluable. This study aims to assess community pharmacists' experiences and perceptions regarding gabapentin abuse in Jordan.

Apoptosis: A Comprehensive Overview of Signaling Pathways, Morphological Changes, and Physiological Significance and Therapeutic Implications.

Cell survival and death are intricately governed by apoptosis, a meticulously controlled programmed cell death. Apoptosis is vital in facilitating embryonic development and maintaining tissue homeostasis and immunological functioning. It is a complex interplay of intrinsic and extrinsic signaling pathways that ultimately converges on executing the apoptotic program.

Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).

Background: Spinocerebellar ataxia with axonal neuropathy type 1 (OMIM: 607250) is an extremely rare autosomal recessive disorder caused by a mutation in the tyrosyl-DNA phosphodiesterase 1 (TDP1) gene. Only a single missense variant (p.His493Arg) in this gene has been reported.

Diagnostics for optimised dengue surveillance: a qualitative focus group study to investigate user experience and requirements in Thailand.

Objectives: Effective, real-time surveillance of dengue may provide early warning of outbreaks and support targeted disease-control intervention but requires widespread accurate diagnosis and timely case reporting. Research directing innovation in diagnostics for dengue surveillance is lacking. This study aimed to describe experience and requirements of relevant prospective users.

Radon quantification in water and dose estimation via inhalation and ingestion across age groups in the Pattan region of North Kashmir, India.

Human survival hinges on access to water, which provides vital necessities. It is crucial to secure reliable, affordable, and uncontaminated water to maintain health and sustain life. For the potential impact of radioactive water pollution on human well-being, a scintillation-based smart RnDuo detector was employed in the Pattan region of North Kashmir Baramulla to quantify radon levels in diverse underground water.

Dengue virus genomic surveillance in the applying Wolbachia to eliminate dengue trial reveals genotypic efficacy and disruption of focal transmission.

Release of Aedes aegypti mosquitoes infected with Wolbachia pipientis (wMel strain) is a biocontrol approach against Ae. aegypti-transmitted arboviruses. The Applying Wolbachia to Eliminate Dengue (AWED) cluster-randomised trial was conducted in Yogyakarta, Indonesia in 2018-2020 and provided pivotal evidence for the efficacy of wMel-Ae.

Development of age-specific population-based paediatric computational phantoms for image-based data mining and other radiotherapy applications.

Computational anatomical models have many applications in paediatric radiotherapy. Age-specific computational anatomical models were historically developed to represent average and/or healthy individuals, where cancer patients may present with anatomical variations caused by the disease and/or treatment effects. We developed RT-PAL, a library of computational age-specific voxelized anatomical models tailored to represent the paediatric radiotherapy population.