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.

Clinical Profile and Risk Factors for Severe Disease in 402 Children Hospitalized with SARS-CoV-2 from India: Collaborative Indian Pediatric COVID Study Group.

Introduction: There is a lack of large multicentric studies in children with COVID-19 from developing countries. We aimed to describe the clinical profile and risk factors for severe disease in children hospitalized with COVID-19 from India.

Methods: In this multicentric retrospective study, we retrieved data related to demographic details, clinical features, including the severity of disease, laboratory investigations and outcome.

Thyroid Function, Urinary Iodine, and Thyroid Antibody Status Among the Tribal Population of Kashmir Valley: Data From Endemic Zone of a Sub-Himalayan Region.

There are scarce data on the prevalence of thyroid disorders and urinary iodine status among tribal populations of India, with no reported data from Kashmir valley. To estimate the prevalence of thyroid disorders and evaluate urinary iodine concentration (UIC) and thyroid autoantibody status among Gujjar and Bakerwal tribes of Kashmir valley. This cross-sectional study recruited tribal subjects using multistage cluster sampling from 5 out of 22 districts of Jammu and Kashmir (J&K).

Role of Flexible Bronchoscopy in Ventilator-Dependent Neonates.

Objective: To assess the usefulness and safety of flexible bronchoscopy in ventilated neonates with extubation failure.

Methods: This was a prospective observational study. Flexible bronchoscopy was done in eligible patients with failure of extubation form invasive ventilation.

Intussusception in children aged under two years in India: Retrospective surveillance at nineteen tertiary care hospitals.

Objective: Intussusception has been linked with rotavirus vaccine (RVV) as a rare adverse reaction. In view of limited background data on intussusception in India and in preparation for RVV introduction, a surveillance network was established to document the epidemiology of intussusception cases in Indian children.

Methods: Intussusception in children 2-23 months were documented at 19 nationally representative sentinel hospitals through a retrospective surveillance for 69 months (July 2010 to March 2016).

Lactate clearance prognosticates outcome in pediatric septic shock during first 24 h of intensive care unit admission.

Unlabelled: This study was undertaken to examine the clinical utility of lactate clearance as an indicator of mortality in pediatric septic shock, and to compare the performance of lactate clearance at 6, 12, and 24 h for predicting in-hospital and 60-day mortality. Pediatric patients with septic shock were prospectively studied. Vital signs, laboratory values, Pediatric Risk of Mortality Score, and pediatric logistic organ dysfunction score were obtained at presentation (hour 0), hour 6, hour 24 and over the first 72 h of hospitalization.

Proceduralist Given Sedation is Safe and Feasible in Pediatric Flexible Bronchoscopy.

The objective of this research was to study the effectiveness and safety of proceduralist given sedation in pediatric flexible bronchoscopy. Flexible bronchoscopy was performed in all 267 patients. All patients received midazolam and/or ketamine.

Infantile Thiamine Deficiency: New Insights into an Old Disease.

Context: The wide spectrum of clinical presentation in infantile thiamine deficiency is difficult to recognize, and the diagnosis is frequently missed due to the lack of widespread awareness, and non-availability of costly and technically demanding investigations.

Evidence Acquisition: The topic was searched by two independent researchers using online databases of Google scholar and PubMed. We considered the related studies published in the last 20 years.

Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study.

Objective: Disorders of sex development (DSD) constitutes a small but difficult and equally important area of endocrinology. It is often a social emergency as the decision regarding sex assignment in these cases is extremely disturbing and difficult to both families and healthcare professionals. Our study was devised to assess the clinical and chromosomal profile of patients with suspected DSD and classify them according to the new DSD consensus document.

Vitamin D status correlates with the markers of cystic fibrosis-related pulmonary disease.

Background: The prevalence of Vitamin D deficiency remains high in cystic fibrosis despite daily supplementation. Vitamin D as an immunomodulator has been related to lower respiratory tract infections in children. The present study was undertaken to examine the association between vitamin D status and markers of cystic fibrosis-related pulmonary disease including exacerbations, bacterial colonization and pulmonary function.

Prevalence of Depression among Caregivers of Indian Children with Cystic Fibrosis.

Objective: To study the prevalence of depression among caregivers of children with cystic fibrosis and its impact on the health and well being of these children.

Methods: This cross-sectional study was conducted in a tertiary care hospital from September 2015 through August 2016. Forty one parents of children receiving treatment at the Cystic fibrosis (CF) clinic were approached to be part of the study.

The Diagnostic Dilemma of Traumatic Lumbar Puncture: Current Standing of Cerebrospinal Fluid Leukocyte Corrections and Our Experience With Cerebrospinal Fluid Biomarkers.

Objective: To assess the diagnostic efficiency of cerebrospinal fluid markers of procalcitonin, lactate, and cerebrospinal fluid/serum lactate ratio for detecting bacterial meningitis during traumatic lumbar puncture, and to compare these markers with routinely used uncorrected and corrected leukocyte measurements.

Methods: Infants aged ≤90 days with traumatic lumbar puncture were prospectively studied. The diagnostic characteristics of cerebrospinal fluid assays of uncorrected and corrected leukocyte count, procalcitonin, lactate, and lactate ratio were described and compared.

Wernicke's encephalopathy in exclusive breastfed infants.

Background: Kashmir has a population that largely consumes polished rice which is deficient in thiamine. Furthermore, lactating women in this region are prone to severe thiamine deficiency because of their traditional food avoidance practices. Infantile beriberi is common in exclusively breastfed infants of thiamine deficient mothers in Kashmir.

Flexible Bronchoscopy in Non-resolving Pneumonia.

Objective: To study the utility of diagnostic flexible bronchoscopy and bronchoalveolar lavage (BAL) in children with non-resolving pneumonia.

Methods: This was a cross-sectional study conducted in a tertiary care hospital from July 2015 through June 2016. Fifty-two consecutive children of both genders from 1 mo to 14 y of age with a diagnosis of non-resolving pneumonia were included.

Prevalence, risk factors and consequences of overweight and obesity among schoolchildren: a cross-sectional study in Kashmir, India.

Background: Obesity among children and adolescents is a growing public health problem. The objective of this study was to evaluate the prevalence, risk factors and metabolic consequences of obesity among schoolchildren from Kashmir, India.

Methods: The study subjects (n=2024) included 870 boys and 1154 girls, aged between 6 and 18 years.

Maternal Overt Hypothyroidism and Neurobehavioral Outcome of Neonates: A Cohort Study from an Iodine-deficient Area of Northern India.

Objective: To study the relation between maternal overt hypothyroidism and neurodevelopmental outcome of neonates in iodine-deficient region of Northern India (Kashmir Valley).

Design: Prospective cohort study.

Setting: Endocrinology department of a tertiary-care hospital.

Neonatal mechanical ventilation: Indications and outcome.

Background And Aims: Decreasing mortality in sick and ventilated neonates is an endeavor of all neonatologists. To reduce the high mortality in this group of neonates, identification of risk factors is important. This study was undertaken to find out the indications of ventilation and complications in ventilated neonates and also study possible predictors of outcome.

Universal salt iodization is successful in Kashmiri population as iodine deficiency no longer exists in pregnant mothers and their neonates: Data from a tertiary care hospital in North India.

Introduction: Normal pregnancy results in a number of important physiological and hormonal changes that alter thyroid function. In pregnancy, the thyroid gland being subjected to physiological stress undergoes several adaptations to maintain sufficient output of thyroid hormones for both mother and fetus. Consequently, pregnant women have been found to be particularly vulnerable to iodine deficiency disorders (IDD), and compromised iodine status during pregnancy has been found to affect the thyroid function and cognition in the neonates.

Recurrent meningitis due to Salmonella enteritidis: a case report from Kashmir India.

Recurrent bacterial meningitis in children is potentially life-threatening and induces psychological trauma to the patients through repeated hospitalization. Here we report a case of recurrent meningitis in a one month old baby. The CSF and blood culture grew Salmonella enteritidis.

Profile of acute renal failure in children in Kashmir.

We report on the etiology and the short term outcome (3 month) of children with acute renal failure (ARF) at a tertiary care centre in north India. Acute tubular necrosis was the commonest cause of ARF (33%) especially in children <5 years of age; while in children >10 years, glomerulonephritis was the commonest cause. The overall mortality rate was 20%.