RESUMO
BACKGROUND: To date, this is the only report showing with close and consecutive magnetic resonance images the extremely rapid response of two types of pediatric low-grade gliomas (PLGG) to vemurafenib and its impact on the surgical approach. CASES PRESENTATION: We report two cases of symptomatic PLGG treated with vemurafenib, a BRAF inhibitor: in a 12-year-old girl it was used as first-line medical treatment, reducing the tumor by 45% within a month and stabilizing to 76% after a year; in a 3-year-old boy with no improvement after SIOP LGG 2004 Protocol, vemurafenib induced in only one week a 34% shrinkage and solved the hydrocephalus, avoiding surgical operation. DISCUSSION AND CONCLUSIONS: Our cases demonstrate how an early molecular diagnosis of BRAF mutations through the neurosurgical biopsy is essential to promptly start targeted therapies., whose effect can influence both therapeutic and surgical decisions, hopefully reducing the occurrence of second neurosurgery with associated risks of neurological sequelae.
Assuntos
Glioma , Proteínas Proto-Oncogênicas B-raf , Masculino , Feminino , Humanos , Criança , Pré-Escolar , Proteínas Proto-Oncogênicas B-raf/genética , Vemurafenib/uso terapêutico , Diagnóstico Precoce , Glioma/tratamento farmacológico , Glioma/genética , Glioma/cirurgia , BiópsiaRESUMO
Very young age could be a potential risk factor for community-acquired severe acute respiratory syndrome coronavirus 2, due to immature immune systems. We retrospectively enrolled 39 infants up to 6 months of age who had presented to our tertiary Italian children's hospital emergency room between 9 March 2020 and 8 March 2021 and tested positive for the virus. Of those, 38 had a non-specific mild or asymptomatic clinical course and only one patient was admitted to intensive care with severe symptoms. We concluded that very young infants with COVID-19 had a generally favourable disease course.
Assuntos
COVID-19 , Criança , Serviço Hospitalar de Emergência , Hospitalização , Humanos , Lactente , Estudos Retrospectivos , SARS-CoV-2Assuntos
Infecções Bacterianas , Febre , Lactente , Humanos , Febre/diagnóstico , Hospitais , Serviço Hospitalar de EmergênciaRESUMO
Early extubation is considered to be beneficial for pre-term neonates. On the other hand, premature extubation can cause lung derecruitment, compromised gas exchange, and need for reintubation, which may be associated with severe brain injury caused by sudden cerebral blood flow changes. We used near infrared spectroscopy (NIRS) to investigate changes in cerebral oxygenation (rScO2) and fractional tissue oxygen extraction (+) after extubation in pre-term infants. This is a single-center retrospective study of NIRS data at extubation time of all consecutive pre-term neonates born at our institution over a 1-year period. Comparison between subgroups was performed. Nineteen patients were included; average gestational age (GA) was 29.4 weeks. No significant change was noted in rScO2 and cFTOE after extubation in the whole population. GA and germinal matrix hemorrhage (GMH)-intraventricular hemorrhage (IVH) showed a significant change in rScO2 and cFTOE after extubation. A significant increase in cFTOE was noted in patients with previous GMH-IVH (+0.040; p = 0.05). To conclude, extubation per se was not associated with significant change in cerebral oxygenation and perfusion. Patients with a diagnosed GMH-IVH showed an increase in cFTOE, suggesting perturbation in cerebral perfusion suggesting further understanding during this challenging phenomenon. Larger studies are required to corroborate our findings.
RESUMO
Extra-uterine growth restriction (EUGR) is a common complication and a known risk factor for impaired development in very-low-birth-weight (VLBW) neonates. We report a population of 288 patients with no or with low-grade MRI lesions scanned at a term equivalent age (TEA) born between 2012 and 2018. Griffiths Mental Development Scale II (GMDS II) at 2 and 3 years, preterm complications and weight growth were retrospectively analyzed. EUGR was defined for weight z-score Ë 10 percentile at TEA, 6 and 12 months of correct age or as z-score decreased by 1-point standard deviation (SDS) from birth to TEA and from TEA to 6 months. Multivariate analysis showed that a higher weight z-score at 6 months is protective for the global developmental quotient (DQ) at 2 years (OR 0.74; CI 95% 0.59-0.93; p = 0.01). EUGR at 6 months was associated with worse locomotor, personal/social, language and performance DQ at 2 years and worse language and practical reasoning DQ at 3 years. In conclusion, a worse weight z-score at 6 months of age seems to be an independent risk factor for significantly reduced GMDS in many areas. These results suggest that we should invest more into post-discharge nutrition, optimizing family nutritional education.
Assuntos
Assistência ao Convalescente , Recém-Nascido Prematuro , Recém-Nascido , Humanos , Lactente , Estudos Retrospectivos , Alta do Paciente , Recém-Nascido de muito Baixo Peso , Peso ao Nascer , Encéfalo/diagnóstico por imagemRESUMO
INTRODUCTION: Haemoglobin levels assessment is a crucial part of neonatal intensive care practice, the painful experience of repeated heel pricks and venepunctures blood sampling may negatively affect neonatal clinical course. To date the reliability of haemoglobin levels obtained by point-of-care testing (POCT) analysis if compared to standard blood cell count remains controversial. MATERIALS AND METHODS: Retrospective study conducted on all inborn premature infants (gestational age < 32 weeks) admitted to NICU of the IRCCS Giannina Gaslini Institute during the period May 2021-April 2023. We considered blood samplings occurred within the first 28 days of life recording the laboratory haemoglobin levels (Hblab) (reference method), the point-of-care haemoglobin levels (HbPOCT) (alternative method) and the type of puncture (arterial, venous and capillary). A Bland-Altman analysis was performed to evaluate the Hb agreement, it determines the bias (mean difference between the reference and alternative methods) and limits of agreement (LOA; lower, l-LOA; upper, u-LOA) of measures. An acceptable limit of agreement was 1 g/dl according to the existing literature. RESULTS: We considered 845 blood samplings from 189 enrolled patients. The comparison between the reference and the alternative method showed a good agreement for the capillary sampling technique with l-LOA of -0.717 (-0.776; -0.659) and u-LOA of 0.549 (0.490; 0.607), these results were not achievable with the other techniques, with LOAs over ±1 g/dl threshold (venousAssuntos
Hemoglobinas
, Testes Imediatos
, Lactente
, Humanos
, Recém-Nascido
, Estudos Retrospectivos
, Reprodutibilidade dos Testes
, Hemoglobinas/análise
, Recém-Nascido Prematuro
RESUMO
PURPOSE: Retinopathy of prematurity (ROP) is the leading cause of childhood blindness. The aim of our study is to validate the new screening criteria elaborated by the Postnatal Growth and Retinopathy of Prematurity (G-ROP) study group in a monocentric cohort of Italian preterm infants. METHODS: We retrospectively applied the G-ROP screening criteria to a cohort of preterm infants born between May 2015 and July 2020 with known birth weight, gestational age, serial weight measurement, and known ROP outcome. Primary outcomes were sensitivity and specificity of ROP detection, especially of treatment requiring ROP. Secondary outcomes were reduction of ophthalmologic examinations and of infants requiring screening. RESULTS: We retrospectively evaluated 595 children and 475 were included in our study. Of them, 119 developed any type ROP, 39 developed type 1 ROP, and 28 underwent treatment. G-ROP criteria predicted 39 of 39 cases of type 1 ROP (100% sensitivity and specificity). Sensitivity and specificity for detection of treated ROP were 100%. Considering any type ROP detection, sensitivity was 87.4% and specificity was 100%. Our analysis showed that screening could be avoided in 50% of patients, resulting in a 29% reduction of the number of examinations. CONCLUSIONS: Our study validates the new G-ROP screening protocol in a monocentric cohort of premature infants. We demonstrate that all Type 1 ROP and requiring treatment ROP could be found even with a reduction of eye examinations.
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PURPOSE: Dehydration is a paediatric medical emergency but there is no single standard parameter to evaluate it at the emergency department. Our aim was to evaluate the reliability and validity of capillary refilling time as a triage parameter to assess dehydration in children. METHODS: This was a prospective pilot cohort study of children who presented to two paediatric emergency departments in Italy, with symptoms of dehydration. Reliability was assessed by comparing the triage nurse's measurements with those obtained by the physician. Validity was demonstrated by using 6 parameters suggestive of dehydration. Comparison between refilling time (RT) and a validated Clinical Dehydration Score (CDS) was also considered. The scale's discriminative ability was evaluated for the outcome of starting intravenous rehydration therapy by using a receiver operating characteristic (ROC) curve. RESULTS: Participants were 242 children. All nurses found easy to elicit the RT after being trained. Interobserver reliability was fair, with a Cohen's kappa of 0.56 (95% confidence interval [CI], 0.41 to 0.70). There was a significant correlation between RT and weight loss percentage (r-squared=-0.27; 95% CI, -0.47 to -0.04). The scale's discriminative ability yielded an area under the ROC curve (AUC) of 0.65 (95% CI, 0.57 to 0.73). We found a similarity between RT AUC and CDS-scale AUC matching the two ROC curves. CONCLUSION: The study showed that RT represents a fast and handy tool to recognize dehydrated children who need a prompt rehydration and may be introduced in the triage line-up.