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1.
J Pediatr Endocrinol Metab ; 36(5): 466-469, 2023 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-36957988

RESUMO

OBJECTIVES: Laron dwarfism is a rare genetic disorder first reported among Israeli jewish children, subsequently about 350 cases cases have been reported worldwide. We aim to describe the clinical profile of nine children with Laron dwarfism from Institute of Child Health, Chennai. METHODS: Analysis of case records from 2010 to 2018. RESULTS: Male:female ratio is 6:3. Mean age of the children at the time of diagnosis was 3 years. All children were extremely short, and mean height Z score (SD) was -7.7(0.8). All children had characteristic facies with no hypoglycaemic episodes. Microcephaly was present in four children out of which two had developmental delay. Three out of six boys had micropenis. All children had low insulin like growth factor-1 (IGF-1) and high basal growth hormone (GH) with a mean (SD) of 39.6 (11.2) ng/mL. CONCLUSIONS: Suspicion of Laron syndrome should be high when child presents with features of Growth Hormone Deficiency (GHD) with extreme stunting.


Assuntos
Nanismo Hipofisário , Nanismo , Síndrome de Laron , Criança , Humanos , Masculino , Feminino , Pré-Escolar , Atenção Terciária à Saúde , Índia , Hormônio do Crescimento , Nanismo Hipofisário/diagnóstico , Fator de Crescimento Insulin-Like I , Nanismo/genética
2.
Pediatr Infect Dis J ; 42(1): e4-e5, 2023 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-36476525

RESUMO

Neurologic manifestations of the 2019 novel coronavirus disease in children are varied. We present the case of a 9-month-old child with bulging anterior fontanelle caused by severe acute respiratory syndrome coronavirus-2.


Assuntos
COVID-19 , Fontanelas Cranianas , Criança , Humanos , Lactente , SARS-CoV-2
3.
Arch Dis Child Fetal Neonatal Ed ; 107(3): 303-310, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34551917

RESUMO

OBJECTIVE: Assess the impact of introducing a consensus guideline incorporating an adapted Sepsis Risk Calculator (SRC) algorithm, in the management of early onset neonatal sepsis (EONS), on antibiotic usage and patient safety. DESIGN: Multicentre prospective study SETTING: Ten perinatal hospitals in Wales, UK. PATIENTS: All live births ≥34 weeks' gestation over a 12-month period (April 2019-March 2020) compared with infants in the preceding 15-month period (January 2018-March 2019) as a baseline. METHODS: The consensus guideline was introduced in clinical practice on 1 April 2019. It incorporated a modified SRC algorithm, enhanced in-hospital surveillance, ongoing quality assurance, standardised staff training and parent education. The main outcome measure was antibiotic usage/1000 live births, balancing this with analysis of harm from delayed diagnosis and treatment, disease severity and readmissions from true sepsis. Outcome measures were analysed using statistical process control charts. MAIN OUTCOME MEASURES: Proportion of antibiotic use in infants ≥34 weeks' gestation. RESULTS: 4304 (14.3%) of the 30 105 live-born infants received antibiotics in the baseline period compared with 1917 (7.7%) of 24 749 infants in the intervention period (45.5% mean reduction). All 19 infants with culture-positive sepsis in the postimplementation phase were identified and treated appropriately. There were no increases in sepsis-related neonatal unit admissions, disease morbidity and late readmissions. CONCLUSIONS: This multicentre study provides evidence that a judicious adaptation of the SRC incorporating enhanced surveillance can be safely introduced in the National Health Service and is effective in reducing antibiotic use for EONS without increasing morbidity and mortality.


Assuntos
Sepse Neonatal , Sepse , Algoritmos , Antibacterianos/uso terapêutico , Feminino , Humanos , Lactente , Recém-Nascido , Sepse Neonatal/diagnóstico , Sepse Neonatal/tratamento farmacológico , Sepse Neonatal/epidemiologia , Gravidez , Estudos Prospectivos , Medição de Risco , Sepse/diagnóstico , Sepse/tratamento farmacológico , Sepse/epidemiologia , Medicina Estatal , País de Gales
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