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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 ATP 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. Besides the index patient, his parents were clinically investigated, and a detailed family history was also recorded. The laboratory investigations and the genetic test results of the parents were compared with the index patient. The biochemical and hormonal profile of the patient confirmed his suffering from CHI and did not respond to diazoxide treatment. The genetic testing revealed that the subject harbored a novel homozygous missense mutation in the KCNJ11 gene, (c.107T>A, p.Val36Glu.). The bioinformatic analysis revealed that valine is highly conserved and predicted that the variant allele (p.Val36Glu) is likely pathogenic and causal for CHI. Parents were heterozygous carriers and did not report any abnormal metabolic profile. Identification of such mutations is critical and likely to change the therapeutic interventions for such patients in the future., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier B.V.)

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., Patients: Children of both genders from 1 month to 17 years of age INTERVENTION: All studied patients underwent flexible bronchoscopy and BAL., Outcome Measure: To observe the BAL findings in various respiratory diseases in the studied population., Results: A total of 283 patients underwent BAL procedure. The positive BAL report was received in 131 (46%) patients. Out of these, 55 (42%) patients had positive BAL culture/ microscopy for different bacterial (50) and fungal species ( Candida spp (3), Mucormycosis (1) and Aspergillus (1)). MTB was isolated in 25 (19%) patients. Twenty-three (17.5%) patients had bronchoalveolar lavage fluid (BALF) positive for pulmonary hydatidosis. Foamy macrophages were seen in 13 patients, significant eosinophilia in nine patients and hemosiderin-laden macrophages were seen in three patients., Conclusion: We found BALF a very useful sample for the evaluation of many infective and non-infective respiratory diseases in our region, which otherwise lacks high end diagnostics. 46% of our patients had some abnormalities in the BAL specimen. It provided us with valuable information regarding organism profile and drug sensitivity in case of lung infection. BALF analysis was also found useful in the diagnosis of some non-infective pulmonary disorders like acute eosinophilic pneumonia, aspiration syndromes and bronchial asthma., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

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. Serum 25-hydroxy vitamin D (25(OH)D) levels were classified as per the Endocrine Society (ES) recommendations: deficiency (<20 ng/ml), insufficiency (20-30 ng/ml) and sufficiency (>30 ng/ml). The serum 25(OH)D levels were assessed in relation to various demographic characteristics such as age, sex, education, smoking, sun exposure, body mass index and physical activity., Results: The mean age of the male participants was 43.79±18.47 yr with a mean body mass index (BMI) of 20.50±7.53 kg/m [2] , while the mean age of female participants was 35.47±14.92 yr with mean BMI of 22.24±4.73 kg/m 2 . As per the ES guidelines 1143 of 1732 (66%) subjects had VDD, 254 (14.71%) had insufficient and 334 (19.3%) had sufficient serum 25(OH)D levels. VDD was equally prevalent in male and female participants. Serum 25(OH)D levels correlated positively with serum calcium, phosphorous and negatively with serum alkaline phosphatase. Gender, sun exposure, altitude, physical activity and BMI did not seem to contribute significantly to VDD risk., Interpretation & Conclusions: VD deficiency is highly prevalent among Kashmiri tribals, although the magnitude seems to be lower as compared to the general population. These preliminary data are likely to pave way for further studies analyzing the impact of vitamin D supplementation with analysis of functional outcomes.

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., Study Design: Subanalysis of a larger prospective,multicentriccohort study., Participants: Children, 2 months to 59 months of age, attending paediatric OPD of 5 urban tertiary care hospitals, suffering from acute respiratory infection (ARI)., Intervention: Detailed clinical history and examination findings of enrolled children were recorded on predesigned case record form. Samples for PCT were obtained at admission and were measured centrally at the end of the study except for one site using VIDAS® B.R.A.H.M.S PCT kit (Biomerieux SA, France)., Outcomes: Sensitivity and specificity of procalcitonin for diagnosis of radiologically confirmed pneumonia., Results: Serum Procalcitonin was measured in 370 patients; median (IQR) age of these children being 12 (7, 22) months, 235 (63.5%) were boys. The median (IQR) serum procalcitonin concentration was 0.1(0.05, 0.4) ng/mL.Sensitivity and specificity of raised PCT (> 0.5 ng/mL) for pneumonia as per any CXR abnormalities were 29.7% and87.5%,(P < 0.001) respectively. Raised PCT was also significantly associated with consolidation (34.5%,79.2%,P < 0.02)and pleural effusion(54.6%,79%,P < 001). Adding PCT to the existing clinical criteria of WHO did not improve the sensitivity for diagnosis of pneumonia. PCT was significantly higher in children with severe pneumonia., Conclusion: Positive PCT (> 0.5 ng/mL) is significantly associated with radiographic pneumonia but not with pneumonia based on WHO criteria.However, it can act as a surrogate marker for severe pneumonia., (© 2022. The Author(s).)