Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.

Basic Science and Pathogenesis.

Background: Heterogeneity in the progression of clinical dementia poses a significant challenge, impeding the effectiveness of current therapies for Alzheimer's disease (AD). To decipher the molecular mechanisms governing heterogeneity in AD progression that remains a critical knowledge gap precluding rational therapeutic design, we investigated the biochemical and biophysical properties of tau present in the inferior temporal gyrus (ITG) and prefrontal cortex (PFC) brain regions of AD patients who had varying disease progression rates. To explore gene expression changes in the ITG which are associated with tau pathology and cognitive decline, we used RNA sequencing for molecular characterization of patients displaying tau and clinical heterogeneity.

Basic Science and Pathogenesis.

Background: Angiotensin-converting enzyme (ACE) is a validated risk locus for developing late-onset Alzheimer's disease (LOAD). ACE1 controls blood pressure through the renin-angiotensin system (RAS), but it is also present and acts locally in the brain. Hypertension is associated with an increased risk for developing AD, and people taking select RAS-targeting therapeutics have reduced incidence of AD.

Type 2 biomarkers in olfactory cleft mucus correlate with SNOT-22 in chronic rhinosinusitis independent of nasal polyp status.

Background: Quantitative mucus cytokine analysis to examine the sinonasal microenvironment may bridge the gap between patient-reported outcome measures (PROMs) and empirical measures of inflammation in patients with chronic rhinosinusitis (CRS).

Objective: Investigate the correlation between mucus cytokine levels and Sino-Nasal Outcome Test (SNOT-22) scores, including individual subdomains.

Methods: Patients with CRS were prospectively recruited between 2016 and 2021 into a multi-institutional observational study.

MaizeCODE reveals bi-directionally expressed enhancers that harbor molecular signatures of maize domestication.

Modern maize (Zea mays ssp. mays) was domesticated from Teosinte parviglumis (Zea mays ssp. parviglumis), with subsequent introgressions from Teosinte mexicana (Zea mays ssp.

Effects of a liquefied petroleum gas stove and fuel intervention on head circumference and length at birth: A multi-country household air pollution intervention network (HAPIN) trial.

Background: Air pollution may impair child growth and cognitive development, with potential markers including birth length and head circumference.

Methods: The Household Air Pollution Intervention Network (HAPIN) trial was an open label multi-country-randomized controlled trial, with 3200 pregnant women aged 18-34 years (9-19 weeks of gestation) randomly assigned in a 1:1 ratio to receive liquefied petroleum gas (LPG) stove intervention compared to women continuing to cook with solid fuels for 18 months. Particulate matter ≤ 2.

Outcomes of non-penetrating deep sclerectomy combined with mitomycin C in advanced open-angle glaucoma in Indian eyes.

Purpose: To assess the safety and efficacy of non-penetrating deep sclerectomy (NPDS) in advanced open-angle glaucoma patients.

Design: Retrospective observational study.

Methods: Forty-two eyes of 38 patients with advanced glaucoma who underwent NPDS surgery combined with mitomycin-C with or without phacoemulsification were evaluated for up to 12 months at a tertiary eye care center in South India.

Pustular and crusted lesions in systemic lupus erythematosus: A case report.

Systemic lupus erythematosus (SLE) is the prototype of an autoimmune disease with various manifestations in the skin and several other organs. Subacute cutaneous lupus erythematosus may present with annular and psoriasiform lesions. There have been case reports of pustular lesions in SLE.

Evaluation of the shear bond strength of surface-treated Cobalt-Chromium metal crowns on corticobasal® implant abutments cemented using different luting agents.

Purpose: This in-vitro study aimed to compare the shear bond strength (SBS) of cobalt-chromium (Co-Cr) crowns on Corticobasal® implant abutments, evaluating the effects of two surface treatments and two luting agents.

Materials And Methods: Thirty Co-Cr crowns were fabricated using CAD-CAM technology with a direct metal laser sintering process and divided into three groups based on surface treatment: Group I (untreated), Group II (sandblasted with 50 μm Al₂O₃), and Group III (Er: YAG laser etching). Each group was further subdivided based on luting cement: Sub group A (GC Fuji Plus) and Sub group B (Rely X U200).

Comparing and assessing physical activity and sedentary behaviour guidelines for different populations with and without chronic conditions and/or disabilities: a systematic review protocol.

Physical activity guidelines targeting different populations with and without chronic diseases or disabilities are required to meet the diverse functional and physiological needs experienced by different subgroups of people to achieve optimal health benefits. As the importance of physical activity guidelines in promoting optimal health and well-being becomes increasingly recognised, there is a critical need for their systematic evaluation to ensure they remain effective, applicable and aligned with evolving health needs and scientific insights. This study aims to systematically review, critically evaluate, and compare global physical activity and sedentary behaviour guidelines on frequency, intensity, time, and type of exercise for adults, pregnant and postpartum women, and people living with chronic conditions and/or disabilities.

A brain-wide map of descending inputs onto spinal V1 interneurons.

Motor output results from the coordinated activity of neural circuits distributed across multiple brain regions that convey information to the spinal cord via descending motor pathways. Yet the organizational logic through which supraspinal systems target discrete components of spinal motor circuits remains unclear. Here, using viral transsynaptic tracing along with serial two-photon tomography, we have generated a whole-brain map of monosynaptic inputs to spinal V1 interneurons, a major inhibitory population involved in motor control.

Evaluating the Synergistic Antioxidant, Anti-microbial and Adsorbent Potential of Andrographis Paniculata Extract and Gold Nanoparticles.

The present study introduces a minimalistic and cost-effective approach to synthesising Gold nanoparticles (AuNPs) using aqueous leaf extracts of Andrographis paniculata. In this synthesis, bioactive metabolites in the leaf extract act as reducing agents, converting Au³⁺ ions to metallic Au⁰, while proteins in the extract form a stabilising layer around the nanoparticles to prevent agglomeration and maintain particle size stability. The synthesised AuNPs were systematically characterised using a range of analytical techniques.

A case report and review of literature on idiopathic ascites after laparoscopic appendectomy - A surgeon's dilemma.

Acute appendicitis is one of the most common emergency surgical conditions, typically treated by laparoscopic appendectomy in most centres. Post-operative ascites is a rare complication after laparoscopic surgery, especially in the absence of a bowel, urinary tract or lymphatic injury. This condition creates a diagnostic challenge for surgeons, even after thorough investigation.

An Image Processing Tool for Automated Quantification of Bacterial Burdens in Zebrafish Larvae.

Zebrafish larvae are used to model the pathogenesis of multiple bacteria. This transparent model offers the unique advantage of allowing quantification of fluorescent bacterial burdens (fluorescent pixel counts [FPC]) by facile microscopical methods, replacing enumeration of bacteria using time-intensive plating of lysates on bacteriological media. Accurate FPC measurements require laborious manual image processing to mark the outside borders of the animals so as to delineate the bacteria inside the animals from those in the culture medium that they are in.

Enhancing plant resilience: Nanotech solutions for sustainable agriculture.

The global population growth is driving up the demand for agricultural products, while traditional farming methods like those from the Green Revolution are becoming unsustainable due to climate change. To address these challenges and ensure agricultural sustainability, innovative techniques, such as nanotechnology, are essential to meet rising food demands and enhance agricultural sustainability. Nanotechnology, which promotes a more sustainable and resilient agricultural system while enhancing food security, is a key catalyst for the Agri-tech revolution.

The effectiveness of synchronous online clinics and conventional clinics among medical students: Assessing the influence of e-learning.

The COVID-19 pandemic presented challenges that led to the development of on-line learning, emphasizing how important it is for students to have access to quality education. This study was conducted to compare the efficacy of synchronous on-line and conventional clinics and the perception of students. This study was conducted over 12 months from November 2020.

A Comprehensive Stereology Method for Quantitative Evaluation of Neuronal Injury, Neurodegeneration, and Neurogenesis in Brain Disorders.

Neuronal injury, neurodegeneration, and neuroanatomical changes are key pathological features of various neurological disorders, including epilepsy, stroke, traumatic brain injury, Parkinson's disease, autism, and Alzheimer's disease. Accurate quantification of neurons and interneurons in different brain regions is critical for understanding the progression of neurodegenerative disorders in animal models. Traditional scoring methods are often superficial, biased, and unreliable for evaluating neuropathology.

Transcatheter pulmonary valve implantation with custom-made 35-mm Myval™ transcatheter heart valve.

Transcatheter pulmonary valve implantation (TPVI) is the standard of care in patients with repaired tetralogy of Fallot (rTOF) presenting with right ventricular outflow tract (RVOT) dysfunction. However, the feasibility of TPVI is limited by the high cost and nonavailability of larger-sized valves for dilated native RVOT of rTOF patients. We report the first successful TPVI with a custom-made 35 mm balloon-expandable valve (Myval™) in a 30-year-old rTOF patient with severe pulmonary regurgitation and RV dysfunction.

Pediatric cardiac interventions: Innovations from India.

India, owing to its population structure, faces an enormous burden of children born with congenital heart disease (CHD). Systematic challenges such as limited public health infrastructure, a shortage of trained specialists, and high out-of-pocket expenditures hinder uniform access to comprehensive CHD care. Despite these limitations, Indian pediatric cardiologists have delivered innovative and often cost-effective solutions to challenging clinical problems.

The hepcidin-ferroportin axis influences mitochondrial function, proliferation, and migration in pulmonary artery endothelial and smooth muscle cells.

Elevated circulating hepcidin levels have been reported in patients with pulmonary artery hypertension (PAH). Hepcidin has been shown to promote proliferation of human pulmonary artery smooth muscle cells (PASMCs) in vitro, suggesting a potential role in PAH pathogenesis. However, the role of human pulmonary artery endothelial cells (PAECs) as either a source of hepcidin, or the effect of hepcidin on PAEC function is not as well described.

Independent and Interactive Impacts of Prenatal Exposure to Legal Substances and Childhood Trauma on Emotion Processing in Pre-Adolescents: Preliminary Findings From the ABCD Study.

Objective: This paper investigated the effects of prenatal drug exposure (PDE), childhood trauma (CT), and their interactions on the neurobiological markers for emotion processing.

Method: Here, in a non-clinical sample of pre-adolescents (9-10 years of age) from the Adolescent Brain Cognitive Development (ABCD) Study (N = 6,146), we investigate the impact of PDE to commonly used substances (ie, alcohol, cigarettes, and marijuana), CT, and their interaction on emotion processing. From the Emotional N-back functional magnetic resonance imaging task data, we selected 26 regions of interests, previously implicated in emotion processing, and conducted separate linear mixed models (108 total) and accounted for available environmental risk factors.

Development and Usability of an Advance Care Planning Website (My Voice) to Empower Patients With Heart Failure and Their Caregivers: Mixed Methods Study.

Background: Web-based advance care planning (ACP) interventions offer a promising solution to improve ACP engagement, but none are specifically designed to meet the needs of patients with heart failure and their caregivers.

Objective: We aimed to develop and assess the usability and acceptability of a web-based ACP decision aid called "My Voice," which is tailored for patients with heart failure and their caregivers.

Methods: This study's team and advisory board codeveloped the content for both patient and caregiver modules in "My Voice.

Hypoxia-Inducible Factor-2α Promotes Liver Fibrosis by Inducing Hepatocellular Death.

The activation of hypoxia-inducible factors (HIF)-1α and 2α in the liver is closely linked to the progression of fatty liver diseases. Prior studies indicated that disrupting hepatocyte HIF-2α attenuates diet-induced hepatic steatosis, subsequently decreasing fibrosis. However, the direct role of hepatocyte HIF-2α in liver fibrosis has not been addressed.

Fidgetin binds spastin to attenuate the microtubule-severing activity.

Microtubule-severing enzymes such as spastin, katanin, and fidgetin, characterized by their AAA ATPase domains, are pivotal in modulating microtubule dynamics and behavior across various cellular processes. While spastin and katanin are recognized for their predominant and robust severing of stable microtubules, thereby enhancing microtubule turnover, fidgetin exhibits comparatively weaker severing activity and selectively targets labile microtubules. The interplay among these enzymes and their mutual regulatory mechanisms remains inadequately understood.