Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?

Variants in more than 60 different genes, most of which code for podocyte-related proteins, have been found to be associated with monogenic forms of nephrotic syndrome (NS). Biallelic variants in DAAM2, a member of the formin family, were recently identified to cause autosomal recessive (AR) NS type 24 in four unrelated families with steroid-resistant nephrotic syndrome (SRNS). This case report represents only the fifth reported family of DAAM2-associated NS and the first from India, with two sibs who presented with a complex phenotype characterized by steroid-resistant nephrotic syndrome, short stature, dysmorphic facial features, deep-set toenails, myopia, increased thickness of the calvarium of the skull, and sloping ribs.

Study on Universal Health Coverage Scheme in India - The Stumper to Private Hospitals.

Background: Many governments have introduced health insurance schemes for the poor sections of society to save them from catastrophic health expenditure. Private hospitals play a key role in India, as they are in significant number in secondary and tertiary care services. Private hospitals have to fund their infrastructure, staff salaries from the revenue of previous year.

SERPINA11 related novel serpinopathy - A perinatal lethal disorder.

SERPINA11 is a hitherto poorly characterised gene belonging to Clade A of the SERPIN superfamily, with unknown expression pattern and functional significance. We report a perinatal lethal phenotype in two foetuses from the same family associated with a biallelic loss of function variant in SERPINA11, and provide functional evidence to support its candidature as a Mendelian disorder. The SERPINA11 variant-associated foetal phenotype is characterised by gross and histopathological features of extracellular matrix disruption.

Effectiveness of generic tofacitinib in idiopathic inflammatory myositis (IIM)-a retrospective analysis from Indian Myositis Registry (MyoIN).

Objectives: Determine domain-based-outcomes and steroid-sparing efficacy of generic tofacitinib in IIM.

Methods: This is a multicenter retrospective study wherein clinical phenotype, autoantibody profile, prior immunosuppressives, and outcomes at 3, 6, and 12 months were retrieved for IIM patients prescribed tofacitinib. Overall clinical response was assessed as complete or partial remission as per physician judgment.

A Study to Evaluate the Effect of Sodium-Glucose Co-transporter 2 (SGLT2) Inhibitors on Oxidative Stress Parameters in Type 2 Diabetes Mellitus Patients.

Introduction Diabetes mellitus (DM) is a global health issue with 50 million diabetics currently residing in India. Hyperglycemia causes tissue damage due to mitochondrial overproduction of reactive oxygen species. Sodium-glucose cotransporter-2 (SGLT2) inhibitors (SGLT2i) have shown a decrease in oxidative stress by either amelioration of free-radical generation or potentiation of cellular antioxidative capacity in preclinical studies.

Neurological and Vascular Behçet's Disease in a Young Male without Classic Triad of Behçet's Disease: A Case Report and Literature Review.

Introduction: Neuro-Behçet's disease (NBD) is an uncommon presentation in Behçet's disease (BD) with severe course and worse prognosis. Both vascular and NBD presentation without the classical triad of BD in a single patient is rarely reported.

Case Presentation: Here a 48-year-old male had an extensive aortic aneurysm eroding vertebra for which he was diagnosed as vascular BD.

Prevalence and outcome of sarcopenia in non-alcoholic fatty liver disease.

Background: Nonalcoholic fatty liver disease (NAFLD) includes a spectrum of conditions, progressing from mild steatosis to advanced fibrosis. Sarcopenia, characterized by decreased muscle strength and mass, shares common pathophysiological traits with NAFLD. An association exists between sarcopenia and increased NAFLD prevalence.

Does the objective measurement of muscle strength improve the detection of postoperative residual muscle weakness?

Background And Aims: The postoperative residual neuromuscular block (PRNB) has a significant impact on patient safety and well-being, but continues to remain underestimated. Objective evaluation of handgrip strength using a force dynamometer can be useful to identify postoperative muscle weakness.

Material And Methods: Thirty-two American Society of Anesthesiologists (ASA) class I and II patients who received general anesthesia were included.

Venous pathology targeted surgical management in Hirayama disease: A comprehensive case series of nine cases exploring this potential etiology.

Objective: Hirayama disease is a rare cause of cervical myelopathy predominantly affecting young individuals. The disease is classically characterized by muscle atrophy in the distal upper limbs. While various etiopathogenesis such as dural sac dysplasia, nerve root dysplasia, structural abnormalities of the spinal ligament, and venous dysplasia have been proposed, this study explores the potential role of venous pathology and surgical management on the basis of it.

Comparison of nebulisation 0.75% ropivacaine with 2% lignocaine for attenuation of haemodynamic response due to intubation: A prospective randomised study.

Introduction: Laryngoscopy and intubation are associated with the reflex response of hypertension, tachycardia and other intraoperative complications. Nebulised route drug administration and entropy-guided induction enable optimal intubating conditions.

Aims: To compare pre-induction nebulisation between 0.

Sealing Ability Comparison of Three Different Obturating Systems to Intraradicular Dentin-An Stereomicroscopic Study.

Background: Different obturation techniques are being used to improve canal sealing, thereby minimizing marginal leakage.

Aims And Objectives: To evaluate the marginal leakage of three different obturating materials and techniques using stereomicroscope.

Materials And Methods: Thirty freshly extracted maxillary anterior teeth were collected and were divided into three groups of 10 each for which the biomechanical preparation was done.

Major Nerve Resections in Extremity Soft Tissue Sarcomas-Functional and Oncological Outcomes.

Soft tissue sarcomas form 1% of all cancers and are rare. The lower limb is one of the commonest sites of sarcoma, with the thigh accounting for the majority of these tumors. Large tumors abut the neurovascular bundles both anteriorly and in the hamstring compartment.

Functional Outcomes of Primary Hemiarthroplasty for Unstable Intertrochanteric Fractures in the Elderly: A Prospective Observational Study.

Background and objective Intertrochanteric fractures pose a growing healthcare challenge among the elderly, demanding effective management strategies. This study addressed the rising incidence of hip fractures, emphasizing the complications associated with traditional nonsurgical approaches. It aimed to explore postoperative functional outcomes and complications associated with primary hemiarthroplasty as an alternative to internal fixation for unstable intertrochanteric fractures in the elderly.

PREDICTORS OF FAILURE OF ENDOSCOPIC RETROGRADE CHOLANGIOPANCREATOGRAPHY IN CLEARING BILE DUCT STONES DURING INDEX PROCEDURE - A PROSPECTIVE STUDY.

Background: Common bile duct (CBD) stones are known to complicate 10-15% of gallstone diseases. Endoscopic retrograde cholangiopancreatography (ERCP) is the therapeutic modality of choice for bile duct clearance in CBD stones but may fail to achieve stone clearance. This prospective study was done to identify the predictors of failure of CBD clearance with ERCP.

Comparative outcome of single versus two double-pigtail stents for endoscopic drainage of pancreatic fluid collections with minimal necrosis: a retrospective analysis.

Background: Endoscopic ultrasound (EUS)-guided cystogastrostomy is the treatment of choice for managing symptomatic pancreatic fluid collections (PFC). However, studies on the number of stents for optimal drainage of PFCs are limited. Hence, the present study was conducted to compare the outcome of single versus two double-pigtail stents for endoscopic drainage of PFCs.

Orforglipron, a novel non-peptide oral daily glucagon-like peptide-1 receptor agonist as an anti-obesity medicine: A systematic review and meta-analysis.

Background: Orforglipron is a novel once-daily oral non-peptide glucagon-like peptide-1 receptor agonist with several recently published randomized controlled trials (RCTs) evaluating its role in diabetes and obesity. No meta-analysis has analyzed the efficacy and safety of orforglipron; this meta-analysis aimed to address this knowledge gap.

Methods: A systematic search was conducted in electronic databases to identify RCTs that included individuals with obesity who were administered orforglipron and compared to either a placebo or an active comparator.

Our Experience With Extracorporeal Irradiation and Reimplantation of the Irradiated Bone for the Reconstruction of Bone Defects Following Tumor Resection.

Background: With tremendous improvement in the survival of patients with malignant bone tumors, there is a greater emphasis on the functional outcome and durability of reconstruction following tumor resection. Tumor resection and extracorporeal irradiation (ECI) followed by reimplantation of the irradiated bone in malignant bone tumors is drawing popularity across various centers. In this study, we aim to put forward our experience with ECI, the outcomes achieved, and the complications faced by us.