Basic Science and Pathogenesis.

Background: AD/ADRD diseases currently impact more than 6 million people in the US. Rare forms of AD/ADRD are caused directly and unambiguously by genetic mutations. However, most AD/ADRD burden is complex in etiology and thought to result from an interplay among multiple incompletely understood genetic, biochemical, lifestyle, environmental and psychosocial risk factors.

Pediatric and adolescent cancer disparities in the Middle East and North Africa (MENA) region: incidence, mortality, and survival across socioeconomic strata.

Background: Cancer is one of the leading causes of death in children and adolescents, with a significant concentration in low and middle-income countries. Previous research has identified disparities in cancer incidence and mortality based on a country's level of development. The Middle East and North Africa (MENA) region comprises of countries with heterogeneous income and development levels.

Effect of Furocyst on Lipid Profile and Insulin Resistance Across Different Categories of Body Mass Index in Women With Polycystic Ovarian Syndrome (PCOS).

Introduction Insulin resistance is a fundamental factor in the pathogenesis of polycystic ovarian syndrome (PCOS) and has been found to mediate a close association with obesity and dyslipidemia. While the anti-diabetic and anti-inflammatory properties of fenugreek seed extracts have been demonstrated, research on its anti-hyperlipidemic properties is still in its novice stage, with inconclusive evidence. The present study assessed the impact of fenugreek seed extracts rich in furostanolic saponins (Furocyst) on lipid profiles across different categories of body mass index (BMI) in women with PCOS.

Computational insights into maternal environmental pollutants and folate pathway regulation.

Exposure to environmental pollutants during pregnancy can adversely affect fetal growth and postnatal development. While numerous studies have explored the interaction between environmental toxic chemicals and the folate pathway, few have examined their inhibitory effects on key targets. This computational study identified 27 maternal environmental toxicants using the Comparative Toxicogenomics Database (CTD) and analyzed them to identify their targets.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.

Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.

A Retrospective Analysis of Demographics, Clinical Features, and Treatment Patterns in Sickle Cell Disease Patients at a Tertiary Healthcare Centre of North East India.

Background Sickle cell disease (SCD) is a hereditary disorder marked by abnormal hemoglobin (HbS), leading to chronic hemolytic anemia, vaso-occlusive crises (VOCs), and multi-organ complications. In India, the prevalence of SCD is highest among tribal populations in states like Madhya Pradesh, Maharashtra, Odisha, and Assam, with the disease burden exacerbated by limited healthcare access, especially in rural regions. This study provides a comprehensive analysis of the demographic profile, clinical features, and treatment patterns of SCD patients at a tertiary healthcare center in Upper Assam, where the prevalence of SCD is high among the tea tribe communities.

Determinants of malnutrition among adolescent females of age 15-19 years in an urban slum of Raipur city.

Context: Adolescent girls suffer the brunt of malnutrition due to increased nutritional needs to facilitate rapid growth spurt including menstruation and increased physical activity. This vulnerable group has low social power and is subjected to peer and social pressures related to body image and weight. All these factors along with the sociocultural milieu may lead to a spectrum of nutritional problems in them.

Endoscopic Screening for Laryngotracheal Complications in Children Following Prolonged Mechanical Ventilation Maintained Through Endotracheal Intubation: A Cross-Sectional Pilot Project.

Background: An endoscopic screening program following successful weaning from prolonged mechanical ventilation maintained through endotracheal tube (ET; ) may be justified to assess the upper (laryngotracheal) airway in children who may not always be symptomatic for intubation-related complications.

Objectives: To evaluate effects of prolonged intubation in children through endoscopic screening of the laryngotracheal airway.

Methods: In this cross-sectional pilot project, children (2 months-12 years) successfully extubated following prolonged intubation were selected, irrespective of having symptoms, for a 1-time flexible nasolaryngoscopy at third to sixth month post-extubation (follow-up window).

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the three NAV proteins highly expressed in the embryonic and adult brain. However, the role of the NAV3 gene in human disease is not well-studied.

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier.

Spintronic devices and applications using noncollinear chiral antiferromagnets.

Antiferromagnetic materials have several unique properties, such as a vanishingly small net magnetization, which generates weak dipolar fields and makes them robust against perturbation from external magnetic fields and rapid magnetization dynamics, as dictated by the geometric mean of their exchange and anisotropy energies. However, experimental and theoretical techniques to detect and manipulate the antiferromagnetic order in a fully electrical manner must be developed to enable advanced spintronic devices with antiferromagnets as their active spin-dependent elements. Among the various antiferromagnetic materials, conducting antiferromagnets offer high electrical and thermal conductivities and strong electron-spin-phonon interactions.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.

Impact of lack of transportation on access to dental care.

Objectives: Access to healthcare may be influenced by the availability of transportation. Nevertheless, the impact of transportation challenges on access to dental care has not been thoroughly examined. This study investigates the influence of transportation availability on dental care visits, dental cleanings, and exams.

Comparison of clinical independence level scores among predoctoral dental students between dental school clinic and community clinic rotation.

Objectives: The aim of this study was to compare the difference in the level of clinical independence among predoctoral dental students during their community clinic rotation with their dental school clinic rotations.

Methods: Descriptive statistics, assessment of sample normality, and T-tests were performed to present the difference in average independence scale scores for the participants in each of the clinical disciplines at dental school clinical rotations and community rotations. The relative impact of each community clinical site was assessed to compare scores assigned at varying locations by different faculty.

Improvement in Obesity-Related Comorbidities 5 Years After Endoscopic Sleeve Gastroplasty: A Prospective Cohort Study.

Background And Aims: Endoscopic sleeve gastroplasty (ESG) is a minimally invasive bariatric procedure that the gastric cavity to facilitate weight loss. We aimed to evaluate the long-term effects of ESG as a monotherapy on obesity-related comorbidities over five years.

Methods: This prospective study analyzed data from 404 consecutive patients (45±11.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%) and the identification of several disease-linked genes, the etiology in most patients remains elusive. Moreover, understanding the correlations between clinical manifestation and genetic variants has become increasingly complex.

Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.

δ-Aminolevulinic acid (ALA) dehydratase (ALAD) deficient porphyria (ADP) is an extremely rare form of porphyria, with only eight documented cases. Herein, we report the second known case of ADP in the Western hemisphere and third case with infantile onset of symptoms. A male neonate presented on day three of life with profound hypotonia, pinpoint pupils, absent deep tendon reflexes, and anemia.

Harnessing Artificial Intelligence (AI) in Anaesthesiology: Enhancing Patient Outcomes and Clinical Efficiency.

The rapid rise and potential of artificial intelligence (AI) have created growing excitement and much debate on its potential to bring transformative changes across entire industries, including the medical industry. This systematic review aims to investigate the advancements in the AI industry and its potential implementation, specifically in the field of anaesthesiology. AI has already been integrated into different areas of medicine, including diagnostic uses in radiology and pathology and therapeutic and interventional uses in cardiology and surgery.

Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant in .

The cytosolic capping protein, Arp2/3 and myosin-I linker protein 2 or CARMIL2 plays an important role in T/B/NK cell function. Biallelic disease causing variants in CARMIL2 are known to cause immunodeficiency 58. We report a 13-year-old girl with recurrent infections, dermatitis and nephrotic syndrome since childhood.

Kahook Dual Blade Goniotomy versus iStent Implantation Combined with Phacoemulsification: A Systematic Review and Meta-analysis.

Prcis: In this meta-analysis, Kahook dual blade goniotomy achieved higher rates of surgical success compared to iStent/iStent inject implantation combined with phacoemulsification. KDB goniotomy demonstrated better IOP reduction at month 6 compared to the Stent group.

Purpose: To compare the outcomes of phacoemulsification combined with either Kahook Dual Blade (KDB) goniotomy (phaco-KDB) or trabecular microbypass stent (iStent and iStent inject) implantation (phaco-Stent).

Monitoring alpha-cypermethrin susceptibility of Phlebotomus argentipes, the vector of visceral leishmaniasis in India, using the CDC bottle bioassay.

Background: Visceral leishmaniasis (VL), known as Kala-azar on the Indian subcontinent, is a parasitic disease caused by the flagellated protozoa Leishmania donovani and can be fatal if left untreated. The sand fly Phlebotomus argentipes is the only proven vector of VL in the Southeast Asia region, and VL control in this region has relied on the use of synthetic insecticides for indoor residual spraying (IRS). The use of DDT in VL control programmes has led to the development of resistance to this insecticide in sand flies, resulting in DDT being replaced with the insecticide alpha-cypermethrin.

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Leucine - rich repeat containing 45 protein (LRRC45) protein localizes at the proximal end of centrioles and forms a component of the proteinaceous linker between them, with an important role in centrosome cohesion. In addition, a pool of it localizes at the distal appendages of the modified parent centriole that forms the primary cilium and it has essential functions in the establishment of the transition zone and axonemal extension during early ciliogenesis. Here, we describe three individuals from two unrelated families with severe central nervous system anomalies.

Timing of Treatment Initiation and Effect on Facial Synkinesis Outcomes-A Retrospective Study.

While facial neuromuscular retraining and chemodenervation are effective treatments for facial synkinesis, it is unclear if clinical outcomes are affected by the timing or sequence of treatment initiation. To compare outcomes between patients with facial synkinesis based on timing of treatment initiation with facial neuromuscular retraining and/or chemodenervation as measured by the Sunnybrook Facial Grading System. Retrospective review of patients with facial synkinesis.