RESUMO
BACKGROUND: Point-of-care testing (POCT) is diagnostic testing performed at or near to the site of the patient. Understanding the current capacity, and scope, of POCT in this setting is essential in order to respond to new research evidence which may lead to wide implementation. METHODS: A cross-sectional online survey study of POCT use was conducted between 6th January and 2nd February 2020 on behalf of two United Kingdom (UK) and Ireland-based paediatric research networks (Paediatric Emergency Research UK and Ireland, and General and Adolescent Paediatric Research UK and Ireland). RESULTS: In total 91/109 (83.5%) sites responded, with some respondents providing details for multiple units on their site based on network membership (139 units in total). The most commonly performed POCT were blood sugar (137/139; 98.6%), urinalysis (134/139; 96.4%) and blood gas analysis (132/139; 95%). The use of POCT for Influenza/Respiratory Syncytial Virus (RSV) (45/139; 32.4%, 41/139; 29.5%), C-Reactive Protein (CRP) (13/139; 9.4%), Procalcitonin (PCT) (2/139; 1.4%) and Group A Streptococcus (5/139; 3.6%) and was relatively low. Obstacles to the introduction of new POCT included resources and infrastructure to support test performance and quality assurance. CONCLUSION: This survey demonstrates significant consensus in POCT practice in the UK and Ireland but highlights specific inequity in newer biomarkers, some which do not have support from national guidance. A clear strategy to overcome the key obstacles of funding, evidence base, and standardising variation will be essential if there is a drive toward increasing implementation of POCT.
Assuntos
Testes Imediatos , Pró-Calcitonina , Adolescente , Criança , Estudos Transversais , Humanos , Irlanda , Sistemas Automatizados de Assistência Junto ao Leito , Reino UnidoRESUMO
Congenital erythropoietic porphyria is a rare disorder of heme biosynthesis, resulting from decreased enzymatic activity of uroporphyrinogen III synthase. Clinical manifestations are heterogenous, of variable severity, and with occasional phenotypic-genotypic correlation. A 14-month-old boy developed fever, extensive dermatitis, and reddish colored urine. Anemia, erythrodontia, hepatosplenomegaly, and massive urinary elimination of predominantly type I porphyrins was suggestive of congenital erythropoietic porphyria. Although hemolysis remained mild and compensated, facial and digital mutilation developed indicative of moderate clinical phenotype. Mutational analysis revealed compound heterozygosity of mutant alleles, including a novel mutation (p.Pro190Leu). The child received supportive management and underwent facial reconstruction successfully.
Assuntos
Porfiria Eritropoética/diagnóstico , Porfiria Eritropoética/terapia , Humanos , Índia , Lactente , Masculino , Porfiria Eritropoética/genéticaAssuntos
COVID-19 , SARS-CoV-2 , Criança , Serviço Hospitalar de Emergência , Humanos , Incidência , RNA ViralRESUMO
We report a newborn girl with life-threatening hyperkalemia and salt wasting crisis due to severe autosomal recessive multiple target organ dysfunction pseudohypoaldosteronism type 1 (MTOD PHA1). She was aggressively managed with intravenous fluids, potassium-lowering agents, high-dose sodium chloride supplementation and peritoneal dialysis. Genetic analysis revealed a homozygous mutation of the α- ENaC (epithelial Na(+) channel) gene. She had a stormy clinical course with refractory hyperkalemia and prolonged hospitalization. Eventually, she succumbed to pneumonia and septicemia at 4 months of age. This is probably the first case of PHA1 confirmed by genetic analysis from India.
Assuntos
Pseudo-Hipoaldosteronismo/terapia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Diálise Peritoneal , Poliestirenos/uso terapêutico , Pseudo-Hipoaldosteronismo/sangueRESUMO
Hyponatremic hypertensive syndrome (HHS) is an uncommon disorder, in which hypertension is associated with profound hyponatremia. It is mostly encountered in adults with unilateral renal artery stenosis. Although renovascular hypertension is one of the commonest causes for severe hypertension in children, HHS is rarely reported in childhood. The authors report a 9-y old boy with hypertensive emergency and severe hyponatremia due to unilateral renal artery stenosis who was successfully managed by vascular stenting of the affected vessel. Prompt recognition of this disorder can be life-saving and can subsequently lead to appropriate referral and treatment as in the present case.
Assuntos
Hipertensão Renovascular/diagnóstico , Hiponatremia/diagnóstico , Obstrução da Artéria Renal/diagnóstico , Criança , Diagnóstico Diferencial , Diagnóstico por Imagem , Humanos , Hipertensão Renovascular/tratamento farmacológico , Hiponatremia/tratamento farmacológico , Masculino , Obstrução da Artéria Renal/cirurgia , SíndromeRESUMO
Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.
Assuntos
Células da Medula Óssea/patologia , Doença de Niemann-Pick Tipo A/diagnóstico , Análise Mutacional de DNA , Humanos , Lactente , Masculino , Mutação , Doença de Niemann-Pick Tipo A/genética , Doença de Niemann-Pick Tipo A/patologia , Esfingomielina Fosfodiesterase/genéticaRESUMO
Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome (NPS), is an extremely rare genetic disorder characterised by an aged appearance at birth. About thirty cases have been reported in the literature. The authors report first Indian baby with Wiedemann-Rautenstrauch syndrome with the lowest birth weight documented in such a patient, who is still surviving at 24 months. This ethnicity has not been reported previously in literature.
Assuntos
Retardo do Crescimento Fetal , Progéria , Retardo do Crescimento Fetal/diagnóstico , Humanos , Índia , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Recém-Nascido , Masculino , Progéria/diagnósticoRESUMO
The association of systemic lupus erythematosus (SLE) and myeloproliferative and lymphoproliferative malignancies is widely reported. There is scarce information available with regards to the association of SLE and malignancy in children. Usually, SLE precedes the onset of lymphoproliferative disease, but the neoplasia can occur earlier or even simultaneously. There are only five pediatric cases of SLE and associated acute lymphoblastic leukemia (ALL) reported in literature. All of these except one satisfied the revised American College of Rheumatology Criteria for SLE. Three of these cases developed SLE several years after successful treatment of ALL. While two cases reported had simultaneous onset of SLE and ALL, one of the cases in this two-patient series, did not fulfill ≥4 criteria for diagnosis of SLE. We present a case of a 3-year-old boy with SLE and coexistent ALL. To the best of our knowledge, only two such cases of simultaneous presentation of both these diseases are present in literature.