Indian pediatrics最新文献

The European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 2024 guidelines on eosinophilic esophagitis in children provide a systematic approach to the diagnosis and management of this rising disease entity in children. We present a concise update of the guideline to simplify management protocols, thus improving patient outcome.

Objective: To assess the clinical and molecular profile of patients with Duchenne Muscular Dystrophy (DMD) presenting to a tertiary center in Eastern Region of Uttar Pradesh, India.

Methods: In this retrospective study, case records of all patients diagnosed as DMD were analyzed to ascertain the clinical phenotype and molecular profile. Multiplex polymerase chain reaction (mPCR) technique, Multiplex Ligation Dependent Probe Amplification (MLPA) and Next Generation Sequencing (NGS) were used for establishing the molecular diagnosis. Leiden Open Variation Database (LOVD) frame checker online tool was used to predict clinical severity of the cases.

Results: Records of 112 children with DMD were analyzed. The median (IQR) age of onset and clinical presentation of disease was 60 (12, 132) months and 90 (33, 156) months, respectively. The most common clinical presentations were difficulty in standing from sitting position (n = 107), difficulty in climbing stairs (n = 106), and difficulty in walking (n = 99). Bilateral calf muscle hypertrophy and a positive Gower's sign was seen in 110 and 108 patients at presentation. The median (IQR) creatinine phosphokinase (CPK) levels at diagnosis were 6296.5 (4320, 7432.5) U/L. The genetic variation in 111 patients were reported as deletion (n = 105), duplication (n = 3), and point variation (n = 3). 22 patients could benefit from the available exon skipping therapy. Exondys (exon 51 skipping) could be used in 14 patients.

Conclusion: Deletions were recorded in a much higher proportion of patients compared to previous studies from India. There were 22 patients who could have been benefitted by the available exon skipping therapy.

Objective: To investigate the morbidity due to the mumps epidemic in Navi Mumbai region of Maharashtra during 2023-24 and identify the preventive strategies.

Methods: An outbreak investigation was carried by pediatricians in Navi Mumbai, Maharashtra, India, between December 2023 and February 2024. A clinical case of mumps was defined as any person with acute onset of unilateral or bilateral, tender, swelling of the parotid or other salivary gland(s), lasting at least two days.

Results: 217 documented cases of mumps were investigated. Among them 197 (90.78%) had never received mumps vaccine, and 20 had received Measles-Mumps-Rubella vaccine (MMR) in the private sector. 185 children had been immunized with Measles-Rubella Vaccine (MR) in the National Immunization programme. The opportunity to vaccinate with the additional component of mumps had been missed during immunization with MR vaccine.

Conclusion: This outbreak investigation highlights the need to establish a Public Health Division in the Government for monitoring all contagious diseases in the community and the timely detection and control of all outbreaks.

Objective: We aimed to assess the acceptability of Mobile Direct Observed Therapy (MDOT) amongst the parents/caregivers of children with asthma.

Methods: This open-label pilot randomized controlled trial enrolled newly diagnosed children aged 5-15 years with asthma, who were followed up telephonically for six weeks. Parents of children in the intervention arm were requested to record a video of the metered dose inhaler with spacer (MDI-S) technique of their child on a mobile phone and share it through WhatsApp with investigator who then provided corrective measures as required by a text/video message. The children in the control arm continued follow-up telephonically without exchange of any videos for six weeks. The primary outcome measures were the acceptability of MDOT and the effect of such interaction on the correctness of the MDI-S technique. Secondary outcome measures were the level of asthma control as per GINA guidelines and the caregivers' perception and feedback about MDOT.

Results: A total of 30 children were enrolled, 15 in each arm. Thirteen (86%) parents uploaded good-quality videos. The average number of incorrect steps decreased from 2.64 in the first video to 0.18 after the fourth video and nil after the fifth video in the MDOT group. At six weeks of follow-up, the average number of incorrect steps was significantly lower in the MDOT group compared to the control group (0 vs 2.9; P < 0.001). The proportion of children having controlled asthma was better in the MDOT group compared to controls (85% vs 70%) (P = 0.39). All parents liked MDOT.

Conclusion: MDOT was well accepted by caregivers of children with asthma and was helpful in improving the MDI-S technique.

A hospital-based longitudinal observation study was conducted to determine the auxological dynamics of Cephalic Index (CI) and corresponding head shape among 1125 children with Down syndrome. Majority (88% males, 82% females) displayed brachycephaly.

We report the prevalence of different mutations in the hemoglobin subunit beta (HBB) gene of 133 children with beta-thalassemia and 23 children with sickle cell disease (SCD), most of them belonging to the states of Uttar Pradesh (UP), Jharkhand, Chhattisgarh and Bihar. IVS 1-5 was the most common mutation (n = 42) followed by CD41/42 (n = 4) and CD8/9 (n = 4). Notably, some mutations like c.47G>A, c.51del and c.123delT not previously reported from UP were found.

Acute kidney injury (AKI) in children is associated with increased mortality and morbidity including the need for prolonged stay in pediatric intensive care unit (PICU) and longer duration of mechanical ventilation. Technological advancements have expanded the array of bedside tools available to clinicians for patient evaluation beyond the traditional physical examination. Point-of-care ultrasound (POCUS) has emerged as a crucial tool for clinicians to quickly diagnose kidney pathology and assess the volume status. This is especially useful in the PICU setting as clinicians seek to optimize fluid requirements, modify dialysis settings based on fluid overload status, and differentiate causes of shock. Herein, we review the role of POCUS focusing on management of critically ill children with AKI, and the improvements in technology and artificial intelligence (AI) in POCUS that allow for better outcomes.