A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.

Background: This study aimed to develop and validate a targeted next-generation sequencing (NGS) panel along with a data analysis algorithm capable of detecting single-nucleotide variants (SNVs) and copy number variations (CNVs) within the beta-globin gene cluster. The aim was to reduce the turnaround time in conventional genotyping methods and provide a rapid and comprehensive solution for prenatal diagnosis, carrier screening, and genotyping of β-thalassemia patients.

Methods And Results: We devised a targeted NGS panel spanning an 80.

Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHNNC) is a rare autosomal recessive renal tubulopathy disorder characterized by excessive urinary loss of calcium and magnesium, polyuria, polydipsia, bilateral nephrocalcinosis, progressive chronic kidney disease, and renal failure. Also, sometimes amelogenesis imperfecta and severe ocular abnormalities are involved. The CLDN-16 and CLDN-19 genes encode the tight junction proteins claudin-16 and claudin-19, respectively, in the thick ascending loop of Henle in the kidney, epithelial cells of the retina, dental enamel, etc.

Ten- vs. 14-day antibiotic therapy for culture-positive neonatal sepsis.

Background: Neonatal sepsis is a major determinant of neonatal mortality. There is a scarcity of evidence-based guidelines for the duration of antibiotics in culture-positive sepsis.

Objectives: The aim of this study was to compare the efficacy of 10- and 14-day antibiotic therapies in the management of culture-positive neonatal sepsis.

Role of cooked green banana in home management of acute diarrhea in under-5 children.

Background: Acute diarrhea is an important contributor to under-5 mortality. Green banana is traditionally used as a home-based remedy for diarrhea.

Objectives: To identify the effect of green banana on duration, recovery and prevention of severe dehydration in under-5 children with acute watery diarrhea with no/some dehydration.

Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.

Thalassemia is the most common inherited hemoglobinopathy worldwide. Variation of clinical symptoms in this hemoglobinopathy entails differences in disease-onset and transfusion requirements. The aim of this study was to investigate the role of α-globin gene deletions in modulating the clinical heterogeneity of β-thalassemia (β-thal) syndromes.