Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature / Raquitismo dependente de vitamina D: tipo 1: série de casos de dois irmãos com mutação CYP27B1 e revisão da literatura

Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.

Resumo Dois irmãos apresentaram características clínicas e bioquímicas do raquitismo, com suspeita clínica inicial de raquitismo hipofosfatêmico. Não houve melhora no início, portanto os irmãos foram reavaliados e, posteriormente, diagnosticados com raquitismo dependente de vitamina D (VDDR) tipo 1 devido a uma rara mutação no gene CYP27B1, que codifica a enzima 1a-hidroxilase. Ambos os irmãos melhoraram com a suplementação de calcitriol. A apresentação inicial do VDDR geralmente é confusa e a avaliação algorítmica ajuda no diagnóstico. Também apresentamos uma breve revisão da literatura, incluindo genética.

Indian Academy of Pediatrics Guidelines on the Fast and Junk Foods, Sugar Sweetened Beverages, Fruit Juices, and Energy Drinks

Justification: In view of easy availability and increasing trend of consumption of fast foods and sugar sweetened beverages (fruit juicesand drinks, carbonated drinks, energy drinks) in Indian children, and their association with increasing obesity and related non-communicable diseases, there is a need to develop guidelines related to consumption of foods and drinks that have the potential toincrease this problem in children and adolescents. Objectives: To review the evidence and formulate consensus statements related toterminology, magnitude of problem and possible ill effects of junk foods, fast foods, sugar-sweetened beverages and carbonated drinks;and to formulate recommendations for limiting consumption of these foods and beverages in Indian children and adolescents. Process:A National Consultative group constituted by the Nutrition Chapter of the Indian Academy of Pediatrics (IAP), consisting of variousstakeholders in private and public sector, reviewed the literature and existing guidelines and policy regulations. Detailed review ofliterature was circulated to the members, and the Group met on 11th March 2019 at New Delhi for a day-long deliberation on framing theguidelines. The consensus statements and recommendations formulated by the Group were circulated to the participants and aconsensus document was finalized. Conclusions: The Group suggests a new acronym ‘JUNCS’ foods, to cover a wide variety ofconcepts related to unhealthy foods (Junk foods, Ultra-processed foods, Nutritionally inappropriate foods, Caffeinated/colored/carbonated foods/beverages, and Sugar-sweetened beverages). The Group concludes that consumption of these foods and beveragesis associated with higher free sugar and energy intake; and is associated with higher body mass index (and possibly with adversecardiometabolic consequences) in children and adolescents. Intake of caffeinated drinks may be associated with cardiac and sleepdisturbances. The Group recommends avoiding consumption of the JUNCS by all children and adolescents as far as possible and limittheir consumption to not more than one serving per week. The Group recommends intake of regional and seasonal whole fruits over fruitjuices in children and adolescents, and advises no fruit juices/drinks to infants and young children (age <2 y), whereas for children aged 2-5 y and >5-18 y, their intake should be limited to 125 mL/day and 250 mL/day, respectively. The Group recommends that caffeinatedenergy drinks should not be consumed by children and adolescents. The Group supports recommendations of ban on sale of JUNCSfoods in school canteens and in near vicinity, and suggests efforts to ensure availability and affordability of healthy snacks and foods. TheGroup supports traffic light coding of food available in school canteens and recommends legal ban of screen/print/digital advertisementsof all the JUNCS foods for channels/magazines/websites/social media catering to children and adolescents. The Group further suggestscommunication, marketing and policy/taxation strategies to promote consumption of healthy foods, and limit availability and consumptionof the JUNCS foods

Skin Care for the Newborn.

Skin of the newborn differs from that of an adult in several ways. It is more susceptible to trauma and infection and requires special care. Certain principles of skin care have to be emphasized to the mother or caregiver such as gentle cleansing, adequate hydration and moisturization of the skin, preventing friction and maceration in body folds, and protection from irritants and bright sunlight. The initial bath in full term infants can be given once the baby’s temperature has stabilized and the infant is hemodynamically stable. All soaps, cleansers, and syndets should be used infrequently during the newborn period and it is better if their use is limited to groins, axillae and napkin areas. The use of emollients on newborns should be limited in warm weather.

Assessment of dietary compliance to gluten free diet and psychosocial problems in indian children with celiac disease.

Objective. To assess dietary compliance to Gluten Free Diet (GFD), to identify barriers to compliance and to study the impact of diet on the psychosocial behavior of children with celiac disease. Methods. Children diagnosed with celiac disease and followed up for more than 6 months, were assessed for dietary compliance. After this assessment, patients were subjected to an interview, consisting of self administered questionnaire, by the investigator who was blinded to initial results of initial assessment. Psychosocial parameters were assessed by standard Pediatric Symptom Checklist (PSC) containing 35 items. Dietary compliant and non-compliant groups were compared for assessed factors affecting the dietary compliance. Cases were also compared to healthy controls for psychosocial parameters. Results. A total of 70 patients were assessed for dietary compliance: 53(75%) were found to be dietary compliant, 13(18%) dietary non-compliant while 4 had doubtful dietary compliance. Final analysis was done for 64 patients who had complete assessment; 4 patients with doubtful dietary compliance and 2 patients who had incomplete assessment, were excluded. Dietary compliance was higher in younger children (>80%) compared to adolescents (44%); in children with higher maternal education; in parents having better knowledge and understanding of disease. Compliance was better in nuclear families; with less number of siblings (68.3% of compliant had <2 siblings compared to 23% in non- compliant); in families with higher per capita income. Dietary compliance was also better in children who presented with typical symptoms of celiac disease (72% of dietary compliant presented with loose motion as presenting symptom compared to only 15% in non-compliant). Celiac children had problems related to adjustment such as difficulty in maintaining diet at school, restaurants, trips, etc.45% patients complained that their teachers don’t understand the nature of their disease. Pediatric Symptom Checklist (PSC) score was above cut-off in 4 children of dietary non-compliant group. Few individual PSC items such as complaints of aches and pains; is irritable, angry; does not listen to the rules, blames other for mistakes; teases others; refuses to share, were more common in celiac children than control. Conclusions. Noncompliance to gluten free dietary regimen is seen in18 % of cases. Dietary noncompliance is more common in the adolescent age group, in joint families and those who have more number of siblings. Dietary restrictions have impact on child’s social activities and thus psychosocial parameters (PSC score) are better in the dietary compliant group.

Medication errors in neonates admitted in intensive care unit and emergency department.

Background : Medication is the most common health-care intervention, and the errors arising out of its usage are potentially an avoidable cause of iatrogenic injuries. There are reports of medication errors from neonatal emergency setups. Aims : To study the medication errors of ordering, dispensing and administering in neonates admitted for emergency care and to compare the errors occurring in the emergency department (ED) with those occurring in the neonatal intensive care unit (NICU) of a teaching hospital in north India. Primary objective: To study the medication errors in ordering and dispensing for neonates. Secondary objective: To compare these errors in 2 different settings - ED and NICU. Materials and Methods : We did a retrospective chart review of neonatal prescriptions written in the 4 months from January to April 2004 in the neonatal intensive care unit and the pediatric emergency department. The prescriptions were analyzed from the case records bearing an even registration number, obtained from the hospital 'medical records' section. Medication error was defined as 'any preventable event that occurs in the process of ordering, transcribing, dispensing, administering or monitoring a drug irrespective of whether the injury occurred or potential for injury was present.' Results : A total of 821 prescriptions were analyzed and 81 (9.6%) errors were detected. The error rate was found to be 1.5 (54/38) and 0.7 (27/38) per patient in ED and NICU, respectively, being highly significant in ED. Every tenth prescription had medication error in ordering or dispensing; of this, every sixth prescription in ED and nineteenth prescription in NICU had medication error. Dosing errors were the commonest form of detected errors. None of the errors caused any significant harm to the patient but had the potential to cause severe injury, and majority of these errors were preventable. Conclusion : Medication errors are common in neonatology; more so, in emergency departments than in the neonatal intensive care units.

Neonatal arrhythmias.

OBJECTIVE: Neonatal arrhythmias are not uncommon; however, they rarely cause hemodynamic compromise. This paper aims to study the etiology, spectrum and outcome of neonates with arrhythmias who presented to a pediatric department. METHODS: All neonates, either inborn or brought to the pediatric emergency with rhythm disorders, between August 1999 to August 2002, were included prospectively. Evaluation including a search for secondary causes of rhythm disorder and a chest X-ray, standard 12-lead electrocardiography and echocardiography in all. The management required in each and the outcomes were noted. RESULTS: Nine neonates were identified, of which 4 were inborn. Tachycardia was seen in 8 neonates and bradycardia in only one. Three neonates had an antenatal onset of arrhythmias; in the rest it was postnatal in onset. Five neonates had a secondary rhythm disorder, secondary to metabolic derangements in 4 and a cardiac mass in 1. Five had ventricular arrhythmias and 5 had hemodynamic compromise due to the arrhythmia. The outcome was poor in 4 and was related to the underlying illness. CONCLUSION: Tachyarrhythmia is more common than bradyarrhythmia in the neonate. Arrhythmias secondary to various metabolic causes are more common than primary rhythm disorders.

Prevalence of anemia among school going adolescents of Chandigarh.

This study was conducted to assess the prevalence of anemia and determine serum ferritin status among 1120 apparently healthy adolescents (12 to 18 years) sampled from 11 city and 2 rural schools in Chandigarh. All the boys and the girls were subjected to anthropometric examination and hemoglobin estimation. The estimation of hemoglobin was done by cyanmethemoglobin method. Serum ferritin was estimated by ELISA (UB1 Magiwel enzyme immuno assay) method in 183 students. The overall prevalence of anemia calculated as per WHO Guidelines was significantly higher among girls (23.9%) as compared to boys (odds ratio--3.75, 95% CI--2.59 to 5.43, P < 0.01). Anemia was observed more in rural (25.4%) as compared to urban (14.2%) adolescents (OR--0.49, 95% CI--0.34 to 0.70, P < 0.01). Iron stores estimated by serum ferritin in 183 subjects were deficient in 81.7% and 41.6% of the adolescent girls and boys, respectively.

Approach to a child with a heart murmur.

The vast majority of children with heart murmurs have an 'innocent' murmur. Differentiation of such murmurs from those due to structural cardiac disease, so called 'pathological' murmurs, is largely clinical. Pediatricians are capable of differentiating one from the other, provided a detailed evaluation is done. This article outlines the salient features of innocent murmurs that help us recognize them clinically.