Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier.

Comparative efficacy and safety of colchicine and interleukin-1 antagonists in recurrent pericarditis: a network meta-analysis.

Introduction: Despite advancement of therapeutic approaches to recurrent pericarditis, it poses notable challenges to its' management. As per the current guidelines, colchicine is the first line therapy, although, non-conventional treatments like interleukin-1 (IL-1) antagonists (rilonacept, anakinra, goflikicept) are progressively utilized for refractory cases.

Evidence Acquisition: A comprehensive electronic search identified relevant literature across multiple databases, focusing on recurrence rates and adverse effects associated with each treatment regimen.

Risk factors and comorbidities associated with cardiac arrests and medical emergencies in interventional radiology patients.

Purpose: To investigate the incidence, predictors, and outcomes of medical emergencies in patients undergoing IR procedures at a tertiary care center.

Materials And Methods: Seven-year retrospective review of all medical emergencies in patients undergoing IR procedures at King Abdulaziz Medical City, Riyadh, Saudi Arabia. Medical emergencies included Cardiopulmonary arrest (CPA), or emergencies that required activation of the critical care response team (CCRT).

The effect of novel Head and Trunk Control Rehabilitation (HATCoRe) device in children with cerebral palsy: Single-Subject multiple baseline protocol.

Objective: Head and trunk control is essential for enhancing engagement and participation by improving visual integration, respiration, oromotor skill, arm control, and self-care. Our study protocol aims to investigate the effect of novel Head And Trunk Control Rehabilitation (HATCoRe) device on promoting head and trunk control in children with Cerebral Palsy (CP).

Method: This single subject multiple baseline design trial will include six children with CP aged two to 10 years, exhibiting delayed head and trunk control, having Gross Motor Function Classification System level IV and V will be enrolled.

Laws Limiting Access to SNAP Benefits for People With Felony Drug Convictions: A Policy-Mapping Study.

To map US state Supplemental Nutrition Assistance Program (SNAP) bans for individuals with felony drug convictions between 2004 and 2021. Using standard legal-mapping methodology, we categorized states as maintaining the lifetime ban imposed by federal law, modifying the lifetime ban, or fully opting out of the lifetime ban in each year. Among states with modified bans in 2021, we coded types of modifications.

Characterization of Myocardial Recovery in Patients With Tachycardiomyopathy.

Background: The degree and time course of improvement in left ventricular (LV) function with treatment in patients with tachycardiomyopathy (TCMP) is highly variable. This study aims to clinically characterize the recovery of TCMP based on the extent and course of improvement in LV function and identify predictors of complete myocardial recovery.

Methods: In this prospective, single-center, observational study, patients with suspected TCMP who underwent successful tachyarrhythmia termination/control were included.

Nuclear GTPSCS functions as a lactyl-CoA synthetase to promote histone lactylation and gliomagenesis.

Histone lysine lactylation is a physiologically and pathologically relevant epigenetic pathway that can be stimulated by the Warburg effect-associated L-lactate. Nevertheless, the mechanism by which cells use L-lactate to generate lactyl-coenzyme A (CoA) and how this process is regulated remains unknown. Here, we report the identification of guanosine triphosphate (GTP)-specific SCS (GTPSCS) as a lactyl-CoA synthetase in the nucleus.

The impact of cerebrovascular steno-occlusive disease subtype on surgical and clinical outcomes after direct STA-MCA bypass surgery.

Objective: Although well-established in moyamoya disease (MMD), the role of direct superficial temporal artery (STA) to middle cerebral artery (MCA) bypass in non-MMD (N-MMD) cerebrovascular steno-occlusive syndromes remains controversial. Nonetheless, the recurrent stroke risk in patients with N-MMD, despite best medical management, remains exceedingly high-especially for those suffering from hypoperfusion-related ischemia. The study objective was to determine the relative safety and efficacy profiles of direct STA-MCA bypass surgery for MMD and N-MMD patients in a large contemporary cohort.

Unraveling the relationship between executive function and mind wandering in childhood ADHD.

Attention Deficit/Hyperactivity Disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in children. According to developmental literature findings, there is a link between executive function (EF) and ADHD. Although EF deficits vary across ADHD presentations in children, working memory capacity is commonly associated with attention impairments.

An internet-delivered acceptance and commitment therapy program for anxious affect, depression, and wellbeing: A randomized, parallel, two-group, waitlist-controlled trial in a Middle Eastern sample of college students.

Background: College students during the young adult years are at elevated risk for the development of anxiety and depressive difficulties. Moreover, a preliminary body of evidence suggests that, for those who reside in Middle Eastern contexts, despite an established need, sociocultural impediments prevent active psychological help-seeking. Internet-delivered, self-directed mental health programs may hold significant promise to alleviate these difficulties in contexts where individuals would otherwise not enlist the support of a mental health practitioner.

Progressive Supranuclear Palsy in India: Past, Present, and Future.

Progressive supranuclear palsy (PSP) has emerged as a key area of interest among researchers worldwide, including those in India, who have actively studied the disorder over the past several decades. This review meticulously explores the extensive range of Indian research on PSP up to the present and offers insights into both current initiatives and potential future directions for managing PSP within the region. Historical research contributions have spanned 80 publications from 1974 to 2023, encompassing diverse themes from clinical phenotyping and historical analysis to isolated investigative studies and therapeutic trials.

Ewing Sarcoma of Left Thigh With Nodal, Paraspinal and Soft Tissue Metastatic Lesions: A Case Report.

Introduction: Ewing sarcoma is a rare and highly aggressive malignancy, mostly involving the axial skeleton. Ewing sarcoma usually affects children and young adults under 20. Usually presenting as a painful swelling and discomfort worsening over time.

Unusual Metastasis of Pancreatic Adenocarcinoma Into the Bladder: Two Case Reports and Literature Review.

We described two patients diagnosed with rare bladder metastasis (BM) from pancreatic adenocarcinoma, a prevalent neoplastic disease primarily associated with ductal adenocarcinoma. The overall prognosis for those patients with metastasis is very poor, with a 5-year survival rate of < 3%. The scarcity of cases in the literature makes this series a significant contribution as it presents the first documented instance of BM originating from pancreatobiliary ampullary cancer and a rare case associated with the Krukenberg tumor.

PREVALENCE OF EXHUMATION IN DISTRICT HYDERABAD: A LOCAL EXPERIENCE.

Background: Exhumation of bodies for forensic purposes serves as a pivotal tool in medico-legal investigations, yet there is scant data on the practice within the Pakistani context, particularly in the District of Hyderabad. Aim & Objective were to investigate the prevalence and outcomes of exhumations in Hyderabad, contributing to the knowledge base and understanding the cultural and legal factors influencing post-mortem examinations.

Methods: A descriptive, observational, and retrospective analysis of 95 medicolegal exhumations carried out over two years, examining demographic data, the interval between death and exhumation, putrefactive changes, and the determination of the cause of death.

Towards Linking Histological Changes to Liver Viscoelasticity: A Hybrid Analytical-Computational Micromechanics Approach.

Motivated by elastography that utilizes tissue mechanical properties as biomarkers for liver disease, with the eventual objective of quantitatively linking histopathology and bulk mechanical properties, we develop a micromechanical modeling approach to capture the effects of fat and collagen deposition in the liver. Specifically, we utilize computational homogenization to convert the microstructural changes in hepatic lobule to the effective viscoelastic modulus of the liver tissue, i.e.

Pregabalin for chronic cough due to lung cancer: randomized, double-blind, placebo-controlled trial.

Background: Developing effective therapies for cough in lung cancer is an unmet need Neuromodulators like pregabalin may act centrally as cough suppressants.

Methods: Randomized double-blind placebo-controlled study in patients with locally advanced/metastatic lung cancer and at least 2 weeks of moderate or severe cough. Randomization was 1:1 to pregabalin 300 mg orally daily or matching placebo, both administered for 9 weeks.

Public Health Impact of Introducing a Pentavalent Vaccine Against Invasive Meningococcal Disease in the United States.

Background: Invasive meningococcal disease (IMD) is primarily associated with five Neisseria meningitidis serogroups: A, B, C, W, or Y. In the United States (US), available vaccines protect against serogroups B (MenB), A, C, W, and Y (MenACWY), and A, B, C, W, and Y (MenABCWY). The Advisory Committee on Immunization Practices is re-evaluating the adolescent meningococcal vaccination schedule with varying recommendation formats.

Cardiovascular Disease Prevalence in Non-Hispanic Black Individuals: U.S. Territories vs. Stroke Belt and Non-Stroke Belt States.

Introduction:  Extensive research exists on the increased prevalence of cardiovascular disease (CVD) in the "Stroke Belt" states, compared to the remaining United States (U.S.).

Alcoholic beverage consumption and female breast cancer risk: A systematic review and meta-analysis of prospective cohort studies.

Alcohol consumption is an established cause of female breast cancer. This systematic review examines in detail the association between alcohol and female breast cancer overall and among the described subgroups, using all of the evidence to date. A systematic review of PubMed and Embase was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.