A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia.

The hypoglycemia induced by insulin hypersecretion in congenital hyperinsulinemia (CHI), a rare life-threatening condition can lead to irreversible brain damage in neonates. Inactivating mutations in the genes encoding K channel (ABCC8 and KCNJ11) as well as HNF4A, HNF1A, HADH, UCP2, and activating mutations in GLUD1, GCK, and SLC16A1 have been identified as causal. A 3-month-old male infant presenting tonic-clonic seizures and hyperinsulinemia was clinically assessed and subjected to genetic analysis.

Vitamin D status among Kashmiri tribal population: A cross-sectional community-based study.

Background & Objectives: Vitamin D deficiency (VDD) is prevalent across all age groups in general population of India but studies among tribal populations are scanty. This study aimed to evaluate the prevalence of VDD in the indigenous tribal population of the Kashmir valley and examine associated risk factors.

Methods: In this cross-sectional investigation, a total of 1732 apparently healthy tribal participants (n=786 males and n=946 females) were sampled from five districts of Kashmir valley by using probability proportional to size method.

Enhancing respiratory disease diagnosis by bronchoalveolar lavage in Kashmir: an audit of findings.

Objective: To study bronchoalveolar lavage (BAL) findings in various respiratory diseases in children in Kashmir India.

Design: Prospective observational study.

Setting: Paediatric department of the tertiary care hospital.

Role of procalcitonin in diagnosis of community acquired pneumonia in Children.

Background: The role of serum Procalcitonin (PCT) in adults in diagnosis of Community acquired pneumonia (CAP) is well established, however, role in pediatric CAP remains controversial.

Objectives: The objective of this study was to investigate the utility of serum procalcitonin in differentiating bacterial community-acquired lower respiratory tract infection from non-bacterial respiratory infection in children; radiologically confirmed pneumonia was used as the reference. In addition, we assessed the utility of adding the PCT assay to the clinical criteria for diagnosis of pneumonia.

Risk of Hospitalization in Under-five Children With Community-Acquired Pneumonia: A Multicentric Prospective Cohort Study.

Objective: To evaluate factors associated with risk of hospitalization in children with community-acquired pneumonia (CAP).

Design: Prospective cohort study.

Setting: Multi-site hospital based study.