Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10 Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.

Global, regional, and national age-sex-specific burden of diarrhoeal diseases, their risk factors, and aetiologies, 1990-2021, for 204 countries and territories: a systematic analysis for the Global Burden of Disease Study 2021.

Background: Diarrhoeal diseases claim more than 1 million lives annually and are a leading cause of death in children younger than 5 years. Comprehensive global estimates of the diarrhoeal disease burden for specific age groups of children younger than 5 years are scarce, and the burden in children older than 5 years and in adults is also understudied. We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021 to assess the burden of, and trends in, diarrhoeal diseases overall and attributable to 13 pathogens, as well as the contributions of associated risk factors, in children and adults in 204 countries and territories from 1990 to 2021.

The three stages of polytrauma rehabilitation- a recommendation and a systematic literature review on behalf of SICOT.

Purpose: Polytrauma presents a devastating event with great impact on the patient's life. While we are taking great care of improving our treatment algorithms, the rehabilitation often takes place outside of our direct field of vision. Yet, adequate rehabilitation is crucial for the patients to regain their former lives.

Revolutionizing Breast Surgery: A Case Report on the Excision of a Large Fibroadenoma Suggestive of Phyllodes Tumor Under Thoracic Spinal Anesthesia.

Fibroadenomas are benign breast tumors, typically affecting middle-aged women, with rapid growth in some cases leading to compression of surrounding structures and presenting a clinical challenge. This case illustrates the successful use of thoracic spinal anesthesia (TSA) for excising a large fibroadenoma with characteristics suggestive of a phyllodes tumor, a procedure traditionally conducted under general anesthesia (GA). The anesthesia was administered using 1.

Lesser posterior tibial slope angle ≤7 (PTS-Angle) has negative effect on outcome of isolated PCL reconstruction: Comparative analysis of PTS ≤7 vs > 7 degrees.

Purpose: To determine incidence of posterior-tibial-slope (PTS) distribution in patients with isolated posterior-cruciate-ligament (PCL) tear, as-well-as the effect of PTS on radiological, clinical, and functional outcomes after PCL-reconstruction (PCL-R).

Methods: 63 patients with symptomatic isolated PCL-tears who underwent PCL-R were divided into two groups based on a PTS-angle with a cut-off value of 7-degrees: group-A (less than ≤7-degree) and group-B (more than >7-degree). All the patients were subjected to the same technique.

Current Role of Brivaracetam in the Management of Epilepsy in Adults and Children: A Systematic Review.

Epilepsy, a neurological condition, has a devastating effect on the quality of life (QoL) of patients if left untreated. Brivaracetam (BRV), a third-generation antiepileptic drug (AED), acts by modulating synaptic vesicle proteins, making it a valuable addition to the arsenal of drugs for epilepsy management. This study aims to assess the efficacy, safety, and reasons for switching from prior AEDs to BRV in patients with epilepsy.

Pseudoaneurysms of lower limb of orthopaedic traumatological origin: a literature review and our experience of 18 cases.

Introduction And Aims: Arterial pseudoaneurysm is a rare yet potentially life-threatening complication that can arise as a late sequelae of penetrating injuries or orthopaedic procedures. We aim at sharing our institutional experience of managing 18 cases of lower limb arterial pseudoaneurysms in orthopaedic practice and to provide technical tips for emergency management of severe bleeding. A comprehensive literature review resulting from fractures and orthopaedic surgeries is also presented.

How Reliable is the Assessment of Fusion Status Following ACDF Using Dynamic Flexion-Extension Radiographs?

Study Design: Reliability study.

Objectives: The radiographic diagnosis of non-union is not standardized. Prior authors have suggested using a cutoff of <1 mm interspinous process motion (ISPM) on flexion-extension radiographs, but the ability of practicing surgeons to make these measurements reliably is not clear.

Global, regional, and national burden of HIV/AIDS, 1990-2021, and forecasts to 2050, for 204 countries and territories: the Global Burden of Disease Study 2021.

Background: As set out in Sustainable Development Goal 3.3, the target date for ending the HIV epidemic as a public health threat is 2030. Therefore, there is a crucial need to evaluate current epidemiological trends and monitor global progress towards HIV incidence and mortality reduction goals.

Identifying potential inhibitors against galectin-3-binding protein (LGALS3BP) for therapeutic targeting of glioma.

Glioblastoma is one of the most lethal types of Gliomas, and its treatment greatly depends on the stage of its detection. Galactin-3-binding protein (LGALS3BP) serves as a novel circulatory biomarker for detecting glioma at an early stage. This protein is also responsible for metastasis, proliferative signaling, angiogenesis, and immune system evasion in the case of brain tumors.

Comparative Efficacy of MRI and CT in Traumatic Brain Injury: A Systematic Review.

Traumatic brain injury (TBI) is a leading cause of mortality and long-term disability worldwide, and accurate imaging is essential for effective diagnosis, management, and prognosis. This systematic review evaluates the diagnostic capabilities of magnetic resonance imaging (MRI) compared to computed tomography (CT) in assessing TBI across various severities. Through a comprehensive search strategy, studies were selected that directly compared MRI and CT in TBI diagnosis, incorporating advanced MRI techniques such as susceptibility-weighted imaging and fluid-attenuated inversion recovery.

Efficacy of Dexamethasone in Reducing Postoperative Symptoms of the Surgical Extraction of Impacted Third Molars.

Introduction: Among anti-inflammatory medications, dexamethasone has an extended half-life and strong effects, particularly in oral surgical procedures. Administering dexamethasone helps reduce discomfort and inflammation and enhances recovery by minimizing postoperative complications. This study aimed to assess the effectiveness of dexamethasone administered before and after surgery in reducing postoperative pain and swelling and relieving mouth opening following the surgical removal of impacted third molars.

Sympathetic Overdrive and Role of Beta-blockers in Various Forms of Heart Failure: A Consensus Statement from India.

In heart failure, sympathetic overdrive is evidenced by norepinephrine spillover, receptor level changes, etc. Beta-blockers continue to be the cornerstone of treatment in patients with chronic heart failure due to their ability to counteract sympathetic overdrive. Extensive clinical research has demonstrated that long-term beta-blocker treatment with metoprolol succinate, carvedilol, or bisoprolol enhances left ventricular function and reverses left ventricular remodeling, decreases hospitalization risk, and increases survival.

SMARCA4 Deficient Gastric Carcinoma With Squamous Differentiation in a Young Patient With Aggressive Clinical Course.

Inactivation of (BRG1), a subunit of SWI/SNF complex, has been reported in malignancies from various sites, including the thorax, uterus, ovary, and gastrointestinal tract, and is usually associated with aggressive clinical course. These tumors have been reported primarily in elderly patients and on histology demonstrate high-grade morphology, often with rhabdoid differentiation. SMARCA4 loss is exceedingly rare in primary gastric cancers.

Atypical Multi-ligamentous Knee Injury (MLKI): Binary Injury with Avulsion of One Cruciate and Tear of the Other, or Bi-cruciates Avulsion with or Without Collateral Ligament Injury Following Road Traffic Accidents (RTA).

Background: Multi-ligamentous knee injuries (MLKI) fall within a narrow spectrum, accounting for around 11% of all knee injuries. Atypical MLKI involve binary injury: avulsion of one cruciate and tear of the other, or both cruciates avulsion with or without collateral ligament injury.

Purpose: The purpose of this study is to analyse the clinical and radiological outcomes of patients diagnosed with atypical MLKI, and to assess the differences in outcomes between patients with collateral injury and those without.

Surgical Considerations in the Management of Constriction Ring Syndrome.

Surgical management of constriction ring syndrome (CRS) is individualised due to the heterogenic presentation of the condition. CRS includes constriction rings, acrosyndactyly, nubbins and short digits. Involvement of more than one limb is common and children often need multiple surgeries.

"Elucidating the immunomodulatory role of endocannabinoids in intervertebral disc degeneration".

Purpose: The endocannabinoid system (ECS) has been well-established to play a crucial role in the regulation of several physiological processes as well as many inflammatory disease conditions. However, its role in intervertebral disc degeneration has been least explored. We aim to investigate the immunomodulatory role of endocannabinoids in regulating IVD health.

Augmented suture pull-out with suture-button(triple fixation) yields less radiological residual laxity than suture pull-out technique-for Arthroscopic reduction and internal fixation of posterior cruciate ligament avulsion fractures.

Objectives: Among numerous arthroscopic reduction and internal fixation (ARIF) techniques for displaced posterior cruciate ligament (PCL) avulsions, residual posterior laxity and non-unions are under reported and the optimal technique is still unclear. The objective of our study is to differentiate the outcomes of arthroscopic suture pull-out(SPO) versus augmented suture pull-out(ASPO) using suture button for acute displaced tibial PCL avulsion fractures.

Methods: Retrospective study of ARIF for displaced tibial PCL avulsion operated between 2015 to 2021.