Epigenetic biomarkers in Alzheimer's disease: Diagnostic and prognostic relevance.

Alzheimer's disease (AD) is a leading cause of cognitive decline in the aging population, presenting a critical need for early diagnosis and effective prognostic tools. Epigenetic modifications, including DNA methylation, histone modifications, and non-coding RNAs, have emerged as promising biomarkers for AD due to their roles in regulating gene expression and potential for reversibility. This review examines the current landscape of epigenetic biomarkers in AD, emphasizing their diagnostic and prognostic relevance.

First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.

Chronic granulomatous disease (CGD) primarily results from inherited defects in components of the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex. These include gene defects in cytochrome B-245/558 subunit α/β and neutrophil cytosolic factors 1, 2, and 4. Recently, homozygous loss-of-function variants in cytochrome B-245 chaperone 1 gene (CYBC1) have been discovered to cause CGD (CYBC1-CGD).

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.

Purpose: Inherited deficiencies of CD40 and CD40 ligand (CD40L) reflect the crucial immunological functions of CD40-CD40L interaction/signaling. Although numerous studies have provided a detailed description of CD40L deficiency, reports of CD40 deficiency are scarce. Herein, we describe the characteristics of all reported patients with CD40 deficiency.

gene polymorphism and its expression in children with Kawasaki disease from North India: a preliminary case-control study and meta-analysis.

Introduction: gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the gene in patients with KD from the Indian subcontinent are not available. We studied the gene polymorphisms and its expression in children with KD from North India.

Basic Investigations in Pediatric Rheumatology.

The spectrum of pediatric rheumatological disorders is diverse and they are important differential diagnoses in a variety of clinical scenarios. Basic investigations not only provide supporting evidence for the diagnosis of a rheumatological illness but also help in exclusion of other diseases as well as for monitoring the activity of disease. Among these, complete blood count, biochemical assays including tests for inflammatory response, urine analysis, and various autoantibodies are often used.

Occurrence of Kawasaki disease and neoplasms in temporal proximity-single-center experience and systematic review of literature.

Various factors (e.g., infections) have been postulated to trigger Kawasaki disease (KD) in genetically predisposed individuals.

Granulomatous inflammation and hypogammaglobulinemia: Clinical conundrum of familial hemophagocytic lymphohistiocytosis type 5.

Familial hemophagocytic lymphohistiocytosis (HLH) is an inherited disorder characterized by systemic hyperinflammation caused by an uncontrolled immune response mediated by T-lymphocytes, natural killer (NK) cells, and macrophages. Most children with familial HLH present within first 2 years of life and can have fatal disease unless hematopoietic stem cell transplant (HSCT) is performed (1). However, few patients may have late presentation and prolonged survival.

Childhood-onset systemic lupus erythematosus in the first year of life with joint involvement: A case report and mini-review.

Systemic Lupus Erythematosus (SLE) is a multisystem disorder that can affect any organ system. It can have varied presentations, and often early disease is challenging to pick up due to the absence of classical features. Pediatric systemic lupus erythematosus is rare before five years of age.

Vascular dysfunction in juvenile idiopathic arthritis: a systematic review and meta-analysis.

We performed a systematic review and meta-analysis of studies evaluating vascular function in patients with JIA. Relevant literature published from 1st January 1965 to 1st March 2022 was searched systematically utilizing PubMed, Web of Science, and Embase databases. Observational studies were included-patients with JIA (classified according to the International League of Associations for Rheumatology criteria) were included as cases (study population) and age/sex-matched healthy participants as controls (comparator group).

Extensive Idiopathic Calcinosis in a Child - A Diagnostic and Therapeutic Imbroglio.

Idiopathic calcinosis is a disorder characterized by diffuse calcium deposits at various sites of the body. Etiopathogenic associations are described with inherited disorders, connective tissue disorders, infections, tumors, trauma, and endocrine disturbances. No diagnostic tests or standard therapeutic guidelines are established for this entity.

DRESS syndrome due to first-line antitubercular therapy - A diagnostic imbroglio!

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome after the use of first-line antitubercular drugs (ATDs) is rare and literature regarding DRESS syndrome due to ATDs is scarce in children. We report a young boy with tuberculosis who developed DRESS syndrome after exposure to isoniazid. A 9-year-old boy, diagnosed clinically as pulmonary tuberculosis, presented with fever, fast breathing, maculopapular rash, and one episode of gross hematuria.

Long-term vascular dysfunction in Kawasaki disease: systematic review and meta-analyses.

Background: Long-term physiological dysfunction in coronary/systemic vasculature may persist in individuals with Kawasaki disease even in the absence of coronary artery abnormalities. We perform a systematic review and meta-analyses of studies assessing long-term vascular function in Kawasaki disease.

Methods: PubMed, Embase, and Web of Science databases were searched for relevant literature published till May 2021.

Dapsone induced hemolysis in a patient with Hansen's disease and G6PD deficiency: A preventable peril.

Although under-reported, hemolytic anemia is common with dapsone-containing regimen in leprosy. It is prudent to screen for underlying G6PD deficiency in boys before administering dapsone to prevent potentially life-threatening episode of intravascular hemolysis in children with leprosy.

Microalbuminuria and Urinary Neutrophil Gelatinase-associated Lipocalin (uNGAL) in Human Immunodeficiency Virus Infected Children.

Introduction: Renal dysfunction and progression to end stage renal disease is well known in human immunodeficiency virus (HIV) infection. We studied the role of microalbuminuria and urinary NGAL levels in children with HIV infection for the prediction of renal dysfunction.

Design And Methods: A cross-sectional study was carried out and 60 HIV infected children, aged (18 months to 15 years) were screened for microalbuminuria by nephelometry and for uNGAL by ELISA.

Non-SARS, non-MERS human coronavirus infections and risk of Kawasaki disease: a meta-analysis.

To study the association between non-SARS, non-MERS human coronavirus (HCoV) infections and Kawasaki disease (KD). Meta-analysis of observational studies published until 1 May 2021. Out of 571 papers retrieved through database search, 10 provided data of 17,732 children.

Recurrent lupus enteritis in a child-chase the calm before the storm.

Systemic lupus erythematosus (SLE) is a complex multisystemic autoimmune disease. Lupus enteritis (LE), one of the less commonly described manifestations of childhood SLE, presents with relatively nonspecific clinical and laboratory features. In addition, recurrent episodes of LE occurring in temporal proximity are rare in children.

Prevalence and risk factors of asthma among school going children in urban area of North India.

Introduction: Bronchial asthma is a chronic respiratory illness of global importance. Recent reports depict the increasing prevalence of this disorder in urban areas.

Methods: An observational study was designed with a sample size of 1163 children from grade 4 to grade 12, involving 8 randomly selected schools in 2015-2016.

Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.

Background: Chronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in affected children. Single center studies from India have shown that proportion of autosomal recessive (AR) CGD is more than that reported from the West. Further, affected patients have high mortality rates due to late referrals and difficulties in accessing appropriate treatment.