Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.

Background: Despite having heritability estimates of 80%, ~ 50% cases of autism spectrum disorders (ASD) remain without a genetic diagnosis. Structural variants (SVs) detected using long-read whole genome sequencing (lrWGS) are a relatively new class of variants implicated in neurodevelopmental disorders. Short read sequencing (SRS) and chromosomal microarray (CMA) are unable to resolve these SVs due to their inherent technological limitations.

A New Approach to Population Growth Model Involving a Logistic Differential Equation of Fractional Order.

Population growth and its consequences remain one of the most pressing challenges of our time. The study of population dynamics, including factors like resource availability, disease, and environmental constraints, is fundamental for planning in various domains such as ecology, economics, and public health. One of the earliest models proposed to explain population growth was by Thomas Robert Malthus in the late 18th century.

ANCA-Negative Microscopic Polyangiitis With Gastrointestinal and Renal Involvement: A Diagnostic and Therapeutic Challenge.

We present the case of a 64-year-old male with acute kidney injury (AKI) and gastrointestinal symptoms. Computed tomography (CT) revealed inflammatory changes in the lungs and colon, and push enteroscopy confirmed enteritis. Initially, AKI was attributed to GI losses causing prerenal azotemia, but persistent proteinuria prompted kidney biopsy, confirming anti-neutrophil cytoplasmic antibody (ANCA)-negative microscopic polyangiitis (MPA).

Severe Anion Gap Metabolic Acidosis From Isopropyl Alcohol and Alcoholic Ketoacidosis: A Diagnostic Challenge.

Metabolic acidosis, characterized by a decrease in blood pH due to acid accumulation or base deficit, is a life-threatening condition requiring prompt diagnosis and intervention. We describe a rare case of a 44-year-old man with severe alcohol use disorder who presented with altered mental status, acute respiratory distress, and severe wide anion gap metabolic acidosis (AGMA). Initial management with intravenous fluids, bicarbonate, and empiric fomepizole failed to improve his condition, prompting emergent hemodialysis.

Tubercular osteomyelitis of mandible: Defining diagnostic criteria.

Cases of extrapulmonary tuberculosis (TB) are being increasingly reported these days. Orofacial TB represents only 0.05-5% of total cases.

Adaptive behavior and its differences between children with autism spectrum disorder and social communication disorder.

Adaptive behavior is paramount for independent living and is varyingly impaired in different neurodevelopmental disorders. This study aimed to investigate differences in adaptive behavior between children with autism spectrum disorder and social communication disorder, two conditions characterized by deficits in social communication. Data from 232 children with autism spectrum disorder and 90 children with social communication disorder were analyzed.

Should dry spinal tuberculosis be managed differently than wet spinal tuberculosis?

Background Context: On radiopathological examination of spinal tuberculosis (TB), 2 predominant forms are known: dry and wet types. Wet TB, as the name suggests, has abscess formation as its predominant presenting feature and is the exudative form; dry TB includes caseation and sequestration with minimal exudate. Dry TB often exhibits poorer recovery patterns than the wet counterparts, which can be possibly ascribed to vasculitis, ischemia, or tubercular myelitis, rather than isolated mechanical compression.

Intradural extramedullary tuberculoma in a case of disseminated tuberculosis: A case report.

Background: Intradural extramedullary tuberculoma of the spinal cord (IETSC) is an exceedingly rare manifestation of tuberculosis (TB) affecting the central nervous system.

Case Description: A 33-year-old immunocompetent female with disseminated TB, including pulmonary involvement and leptomeningeal tuberculomas, developed progressive paraplegia and urinary incontinence over 2 months. Magnetic resonance imaging revealed diffuse intradural extramedullary soft tissue from C7 to L2 vertebral levels, indicative of abscess formation and severe spinal cord compression.

Double trouble: Concurrent ossification of ligamentum flavum with infective spondylodiscitis in the thoracic spine resulting in paraplegia: A case report.

Background: Thoracic ossification of the ligamentum flavum (OLF) and tuberculous infective spondylodiscitis rarely combine to cause paraplegia. Here, a 48-year-old female with both thoracic OLF and tuberculous spondylodiscitis experienced the acute onset of paraplegia successfully managed with a T8-L1 laminectomy with fusion.

Case Description: A 48-year-old female presented with the acute onset of paraplegia attributed to magnetic resonance-documented thoracic OLF and infective spondylodiscitis.

Aspergilloma Superinfection in the Spinal Canal of an 18-Year-Old Man: A Case Report.

Case: An 18-year-old immunocompetent man presented with symptomatic lumbar canal stenosis, discharging sinuses, and cold abscess for 3 years treated with multiple incision drainage procedures with cottonoid packing antibiotic therapy. Radiographic imaging showed a soft tissue mass in the canal causing bony destruction. Postoperative histopathological examination showed an Aspergillus fungal ball.

Delayed presentation of Wilkie's syndrome after scoliotic curve correction surgery: a case report.

Background: Superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, is a rare but serious complication following scoliosis correction surgery. It occurs as a result of mechanical compression of third part of duodenum between the SMA and aorta. This condition occurs most commonly in significantly underweight patients with deformities, and usually during the first week following spinal deformity corrective surgeries.

Evaluation of liver and splenic stiffness by acoustic radiation force impulse for assessment of esophageal varices.

Background: In routine clinical practice, assessment of portal hypertension (PHT) among patients with liver cirrhosis is done by a upper gastrointestinal endoscopy (UGIE); however, its invasive nature limits its use. Recent advances in ultrasound imaging make it possible to evaluate the tissue stiffness of the liver and spleen reflecting the severity of underlying fibrosis. Liver stiffness and spleen stiffness can be used to predict the presence of esophageal varices/PHT among cirrhotic patients.

A Comparative Study of the Effect of Tooth Mousse Plus Remin Pro and Fluor Protector Gel on Enamel Erosion: An Study.

Background: The purpose of this study was to assess the effect of Tooth Mousse Plus, Remin Pro, and Fluor Protector Gel on enamel erosion, measuring mean weight loss after exposure to a demineralizing agent.

Materials And Methods: A total of 60 sound-extracted permanent incisors were sectioned and enamel specimens were randomly distributed to different groups. The initial weight of all specimens was registered.

Missed injuries associated with maxillofacial trauma.

Background: Maxillofacial trauma in polytrauma settings is often associated with multiple injuries both trivial and life threatening, and their timely detection is the mainstay of definitive trauma management for preventing mortality and morbidity. Emergency management of all the patients reporting to our maxillofacial unit is either done by our center or they have been managed at the peripheral health care facility and relatively stable patient is referred to us. Anecdotally, we found inadequacies in transport methods, diagnosis, and detection of associated injuries in the patients referred to us from the peripheral health care facility.

Evaluation of programmed cell death ligand 1 expression in a contemporary cohort of penile squamous cell carcinoma and its correlation with clinicopathologic and survival parameters: A study of 134 patients.

Objectives: Penile squamous cell carcinomas (PCs) are rare malignancies with a dismal prognosis in a metastatic setting; therefore, novel immunotherapeutic modalities are an unmet need. One such modality is the immune checkpoint molecule programmed cell death ligand 1 (PD-L1). We sought to analyze PD-L1 expression and its correlation with various clinicopathologic parameters in a contemporary cohort of 134 patients with PC.

Evaluation of Relationship between Body Mass Index (BMI) and Dental Development in the Children in Age-group of 6-13 years of Malwa Region: A Cross-sectional Study.

Aim: To evaluate the relationship between body mass index (BMI) and dental development in the children in age-group of 6-13 years of Malwa region.

Materials And Methods: A total of 250 orthopantomograms (OPGs) of children aged 6-13 years (130 males and 120 females) collected from the Department of Paediatric and Preventive Dentistry, Government College of Dentistry, Indore, Madhya Pradesh, India, who came for their routine dental treatment. The chronological age, height, and weight were recorded, followed by calculating the BMI of each patient using Centers for Disease Control and Prevention (CDC) growth charts.

Multifaceted Spindle Cell/Sclerosing Rhabdomyosarcoma With Role of Immunohistochemistry in Avoiding Misdiagnosis: A Multi-Institutional Study of 45 Distinct Tumors.

Spindle cell/sclerosing rhabdomyosarcoma is a rare neoplasm and has an aggressive clinical course. Because of its rarity, we performed a multi-institutional collaboration to comprehend the overarching clinical, histopathological, and immunohistochemical characteristics of a cohort of spindle cell/sclerosing rhabdomyosarcoma. Forty-five patients with spindle cell/sclerosing rhabdomyosarcoma were identified.