Identification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegia.

Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging, especially when there is no positive family history. Children are often initially misdiagnosed with cerebral palsy due to the gradual progression of the disease and non-specific neuroimaging findings, despite the absence of perinatal insult. This misdiagnosis can prevent timely prenatal diagnosis, limiting the ability to make informed decisions about the pregnancy and to plan early interventions.

Clinical and socio-demographic profile of children receiving pediatric palliative care in a tertiary hospital of a metropolitan city in India.

Pediatric palliative care is a holistic care of children suffering from life-threatening or life-limiting illnesses and encompasses care of a child's body, mind, and spirit and involves giving support to the family. According to the Global Atlas of Palliative Care, 6% of the global need for palliative care is in children. In order to provide palliative care, one needs to identify and diagnose the conditions requiring palliative care.

A Case of Parathyroid Adenoma with Bilateral Subtrochanteric Pathological Femur Fracture - A Rare Case Report.

Introduction: Primary hyperparathyroidism is a commonly occurring endocrine disorder that is characterized by elevated calcium levels, decreased phosphate levels, and high levels of parathyroid hormone (PTH). The condition can lead to significant bone resorption and pathological fractures.

Case Report: We report a case of a 44-year-old female who presented with bilateral thigh pain after a trivial fall at home.

Integrated viral and immune monitoring in a prospective COVID-19 cohort from India.

In this study, we report on longitudinal kinetics of cellular immune subsets following SARS-CoV-2 infection in a cohort of hospitalized individuals and evaluate the interplay of these profiles with infecting viral variants, humoral immunity including neutralizing responses, vaccination history, and clinical outcomes. A cohort of 121 SARS-CoV-2-infected individuals exhibiting varying disease states were prospectively evaluated for lymphopenic profiles, antiviral humoral responses and infecting viral variants for a period of up to 90 d spanning the period of February 2021 to January 2022 (second and third waves of infection). A total of 51 participants received at least 1 vaccine dose of indigenous vaccines (Covishield or Covaxin) prior to recruitment.

Revisiting Physiological and Operative Severity Score for the Enumeration of Mortality and Morbidity (POSSUM) and Portsmouth-POSSUM (P-POSSUM) Scores: Are They Valid in Cases of Ileal Perforation?

Introduction Ileal perforation due to typhoid is common in tropical countries, and the ensuing secondary peritonitis is treated by resuscitation and surgery. The Physiological and Operative Severity Score for the Enumeration of Mortality and Morbidity (POSSUM) was developed to predict postoperative outcomes to overcome systemic obstacles in any healthcare setup and is considered fairly accurate. The Portsmouth-POSSUM (P-POSSUM) score was developed as a corrective scoring system for overestimations made by the POSSUM score vis-à-vis mortality.

Use of Hartshill Rectangle with Sublaminar Wiring in Spinal Stabilization of D4-D5 Fracture Dislocation with Acute Spinal Cord Injury - A Cost-Effective Treatment.

Introduction: Fractures in the upper thoracic spine pose technical challenges due to the transition from cervical to thoracic spine, often resulting in complete spinal cord injuries necessitating stabilization. Various posterior fixation techniques include Harrington rods, wired distraction rods, L-rods with sub-laminar wiring, and pedicle screw fixation. Luque pioneered sublaminar wiring (SLW), later enhanced by Dove's Hartshill system for superior biomechanical stability.

Atypical Presentation of Primary Greater Trochanter Tuberculosis - A Case Report.

Introduction: Tuberculosis (TB) of the greater trochanter constitutes about 2% of musculoskeletal TB cases, often presenting with non-specific symptoms of localized pain, tenderness, and swelling, necessitating differentiation from other conditions like tumors. Bursal involvement results in the formation of a fluctuating mass. This case emphasizes the need for meticulous diagnostic evaluation in these cases due to their uncommon presentation and potential for inadequate assessment.

Role of GeneXpert in the diagnosis of extrapulmonary tuberculosis.

The World Health Organization endorsed the cartridge-based nucleic acid amplification test Xpert MTB/RIF (GXP) for the diagnosis of tuberculosis (TB). Studies about GXP efficiency in extrapulmonary TB (EPTB) are scarce. Hence, we decided to study the role of GXP in EPTB.

Effectiveness of Supramaximal Angiotensin-converting Enzyme Inhibition in Controlling Proteinuria in Congenital Nephrotic Syndrome with Cytomegalovirus Infection and an NPHS1 Mutation.

Congenital nephrotic syndrome (NS) is characterized by early-onset heavy proteinuria. Most cases of congenital NS are associated with genetic mutations in the podocyte proteins. The causal relationship of perinatal infections with congenital NS has not yet been proven.

A Novel Approach to Grade 2 Closed Olecranon Fractures (Oestern and Tscherne Classification) Through Percutaneous Tension Band Wiring: A Case Report.

Introduction: Olecranon fractures with compromised overlying skin such as superficial and deep abrasions and puncture wounds pose a challenge to manage as they are at a higher risk of wound and hardware-associated complications such as wound dehiscence, infection, gaping, and prominent hardware. Management of such fractures requires a holistic approach with special attention to the skin and soft tissues.

Case Report: This case highlights a 28-year-old male with a history of falls from a bike resulting in the right comminuted displaced olecranon fracture with multiple superficial abrasions which was managed with a thorough wound wash, antibiotics for 3 days after which percutaneous tension band wiring was performed through a 3 cm incision to prevent any wound complications.

Risk Factors for the Development of Pneumonia in Stroke Patients: A Systematic Review and Meta-Analysis.

Pneumonia is one of the most prevalent medical complications post-stroke. It can have negative impacts on the prognosis of stroke patients. This study aimed to determine the predictors of pneumonia in stroke patients.

Addiction/Drug Use and Usage of Condoms Among Homosexual Males: A Cross-sectional Study.

Background: Despite the legal acceptance of homosexuality in India, it remains a social taboo, resulting in various challenges being faced by homosexual males. These challenges mainly include issues such as addiction/drug use and inconsistent and/ or incorrect condom usage which increase the risk of acquiring sexually transmitted infections (STIs) and HIV among them. This study was thus conducted with the objective of studying the patterns of addiction/drug use and condom usage among homosexual males.

Prevalence of Single-Sided Deafness in a Tertiary Healthcare Hospital in Mumbai.

Purpose: The current study was taken up to estimate the prevalence of Single Sided Deafness (SSD) in a tertiary healthcare hospital in Mumbai. Also to determine the acceptance of Contralateral routing of offside signal (CROS) devices by individuals with SSD.

Method: A retrospective study design was followed to collect data from September 2020 to September 2022.

A comparative study of uncomplicated acute non-A-E hepatitis with acute viral hepatitis and acute onset autoimmune hepatitis.

Background And Aims: Non-A-E hepatitis (NAEH) not leading to acute liver failure (ALF) is poorly documented. The objective was to compare clinical and laboratory features of uncomplicated acute NAEH with acute viral (AVH) and autoimmune hepatitis (AIH) and histopathology in NAEH and AIH.

Methods: Cases of hepatocellular jaundice were included.

Multilevel Pre-extensively Drug-resistant Tubercular Spondylodiscitis: Underdiagnosed or Overlooked? A Case Report.

Introduction: Pre-extensively drug-resistant tuberculosis (TB) is characterized by resistance to either a fluoroquinolone (FQ) or a second-line injectable but not both. The urgent need for prompt diagnosis and targeted treatment is emphasized. This report aims to spotlight a case of spinal TB with insufficient assessment, resulting in delayed definitive treatment and an oversight contributing to heightened morbidity.

Evaluation of Outcome Measures of Zone V Flexor Tendon Injury: A Systematic Review.

 Flexor tendon injury zone V is a multicomponent soft tissue injury involving tendons, nerves, and vessels. Outcome assessment of repair thus requires evaluation of the hand as a whole rather than solely evaluating tendon function. The purpose of this Preferred Reporting Items for Systematic Reviews and Meta-Analyses -compliant systematic review was to identify and assess the components of outcome measures used in flexor zone V.

IL-17A Orchestrates Reactive Oxygen Species/HIF1α-Mediated Metabolic Reprogramming in Psoriasis.

Immune cell-derived IL-17A is one of the key pathogenic cytokines in psoriasis, an immunometabolic disorder. Although IL-17A is an established regulator of cutaneous immune cell biology, its functional and metabolic effects on nonimmune cells of the skin, particularly keratinocytes, have not been comprehensively explored. Using multiomics profiling and systems biology-based approaches, we systematically uncover significant roles for IL-17A in the metabolic reprogramming of human primary keratinocytes (HPKs).

Pontine tegmental cap dysplasia: the role of diffusion tensor imaging.

Pontine tegmental cap dysplasia (PTCD) is a rare hindbrain malformation syndrome. Recurrent aspiration pneumonia is a major cause of death during a first year of life. We report the case of month-old child with an inability to suck milk since birth and multiple convulsions.

The Indian registry on current patient profiles & treatment trends in hypertension (RECORD): One year interim analysis.

Background & Objectives: In India, hypertension constitutes a significant health burden. This observational, non-interventional, prospective study was conducted in five centres across India to evaluate the current clinical practices for the management of hypertension.

Methods: Participants were enrolled if they were newly diagnosed with essential hypertension or had pre-existing hypertension and were on the same therapeutic plan for the previous three months.

Digging Deep: Medication Adherence in Chronic Diseases and Its Association With Patient Satisfaction and Stress in an Indian Metropolis.

Introduction Medication adherence is a critical aspect of managing chronic diseases. Poor medication adherence leads to therapeutic failures and increased health costs, and puts patients at potentially life-threatening risks.The impact is felt drastically by patients suffering from chronic diseases.

Machine learning algorithms for predicting outcomes of traumatic brain injury: A systematic review and meta-analysis.

Background: Traumatic brain injury (TBI) is a leading cause of death and disability worldwide. The use of machine learning (ML) has emerged as a key advancement in TBI management. This study aimed to identify ML models with demonstrated effectiveness in predicting TBI outcomes.