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
Neonatal hypoglycemia is a common condition. A transient reduction in blood glucose values is part of a transitional metabolic adaptation following birth, which resolves within the first 48 to 72 h of life. In addition, several factors may interfere with glucose homeostasis, especially in case of limited metabolic stores or increased energy expenditure. Although the effect of mild transient asymptomatic hypoglycemia on brain development remains unclear, a correlation between severe and prolonged hypoglycemia and cerebral damage has been proven. A selective vulnerability of some brain regions to hypoglycemia including the second and the third superficial layers of the cerebral cortex, the dentate gyrus, the subiculum, the CA1 regions in the hippocampus, and the caudate-putamen nuclei has been observed. Several mechanisms contribute to neuronal damage during hypoglycemia. Neuronal depolarization induced by hypoglycemia leads to an elevated release of glutamate and aspartate, thus promoting excitotoxicity, and to an increased release of zinc to the extracellular space, causing the extensive activation of poly ADP-ribose polymerase-1 which promotes neuronal death. In this review we discuss the cerebral glucose homeostasis, the mechanisms of brain injury following neonatal hypoglycemia and the possible treatment strategies to reduce its occurrence.
Assuntos
Encéfalo/fisiopatologia , Hipoglicemia/fisiopatologia , Lesões Encefálicas/metabolismo , Lesões Encefálicas/prevenção & controle , Morte Celular/efeitos dos fármacos , Epilepsia , Glucose/metabolismo , Ácido Glutâmico/metabolismo , Homeostase , Humanos , Hipoglicemia/metabolismo , Recém-Nascido , Doenças do Recém-Nascido/metabolismo , Neurônios/metabolismo , Estresse Oxidativo , Poli(ADP-Ribose) Polimerase-1/metabolismo , Receptores de Glutamato/metabolismo , Fatores de Risco , Zinco/metabolismoRESUMO
In the published article [1], an error has been noticed in the author group section.
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BACKGROUND: Early exposure to nociceptive events may cause brain structural alterations in preterm neonates, with long-lasting consequences on neurodevelopmental outcome. Little is known on the extent to which early pain may affect brain connectivity. We aim to evaluate brain functional connectivity changes in preterm neonate that underwent multiple invasive procedures during the postnatal period, and to correlate them with the neurodevelopmental outcome at 24 months. METHODS: In this prospective case-control study, we collected information about exposure to painful events during the early postnatal period and resting-state BOLD-fMRI data at term equivalent age from two groups of preterm neonate: 33 subjected to painful procedures during the neonatal intensive care (mean gestational age 27.9 ± 1.8 weeks) and 13 who did not require invasive procedures (average gestational age 31.2 ± 2.1 weeks). A data-driven principal-component-based multivariate pattern analysis (MVPA) was used to investigate the effect of early pain exposure on brain functional connectivity, and the relationship between connectivity changes and neurodevelopmental outcome at 24 months, assessed with Griffiths, Developmental Scale-Revised: 0-2. RESULTS: Early pain was associated with decreased functional connectivity between thalami and bilateral somatosensory cortex, and between the right insular cortex and ipsilateral amygdala and hippocampal regions, with a more evident effect in preterm neonate undergoing more invasive procedures. Functional connectivity of the right thalamocortical pathway was related to neuromotor outcome at 24 months (P = 0.003). CONCLUSION: Early exposure to pain is associated with abnormal functional connectivity of developing networks involved in the modulation of noxious stimuli in preterm neonate, contributing to the neurodevelopmental consequence of preterm birth.
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BACKGROUND: Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutation of the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. . CASE PRESENTATION: A 8-day-old female newborn was admitted to the NICU of University of Bari "Aldo Moro" (Italy) after a cardiorespiratory arrest occurred at home. Severe hypercalcemia was found and different drug therapies were employed (Furosemide, Cinacalcet and bisphosphonate), as well as hyperhydration, until subtotal parathyroidectomy, was performed at day 32. Our patient's mutation was never described before so that a strict and individualized long-term follow-up was started. CONCLUSIONS: This case of NSHPT suggests that a near-miss event, labelled as a possible case of SIDS, could also be due to severe hypercalcemia and evidentiates the difficulties of the neonatal management of NSHPT. Furthermore, the identification of the specific CaSR mutation provides the substrate for prenatal diagnosis.
Assuntos
Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/genética , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Mutação , Receptores de Detecção de Cálcio/genética , Conservadores da Densidade Óssea/uso terapêutico , Calcimiméticos/uso terapêutico , Cinacalcete/uso terapêutico , Ácido Clodrônico/uso terapêutico , Difosfonatos/uso terapêutico , Feminino , Hidratação , Furosemida/uso terapêutico , Genes Recessivos , Homozigoto , Humanos , Hiperparatireoidismo Primário/terapia , Recém-Nascido , Doenças do Recém-Nascido/terapia , ParatireoidectomiaRESUMO
Our article focuses on a retrospective analysis of the occurrence of accidents relating to 20 years of activity of Neonatal Emergency Transport Service (NETS) in Liguria region, Italy. The objective of this study is to determine the vehicle accident rate for a specialized emergency medical services-NETS transport system between 1995 and 2015. We reviewed 5035 medical records related to the activity of our NETS from its beginning, in February 1995 to June 2015. We identified the occurrence of three road accidents (rate â¼1 : 1600 transports; 1 : 170 000 driven km), no helicopter accidents and only one technical problem during helicopter use; our service was not involved in any crashes resulting in injury. We discussed some reasons possibly explaining these good results.
Assuntos
Acidentes de Trânsito/estatística & dados numéricos , Transporte de Pacientes/estatística & dados numéricos , Resgate Aéreo/estatística & dados numéricos , Ambulâncias/estatística & dados numéricos , Humanos , Recém-Nascido , Itália/epidemiologia , Estudos RetrospectivosRESUMO
OBJECTIVE: To compare auxological and metabolic status of preterm (PT) and fullterm (FT) small for gestational age (SGA) babies from birth until age 2 years and to study the role of intrauterine growth retardation (IUGR) in auxological and metabolic outcome in SGA babies. METHODS: We enrolled 44 SGA babies (22 FTs, 22 PTs) followed up six monthly. Anthropometric and metabolic measurements (fasting glucose, basal insulin level, total-cholesterol, triglycerides) were performed. HOMA-IR was selected to assess insulin sensitivity. RESULTS: Both FTs and PTs from birth to age 6 months showed a significant increase in weight and length; the weight gain decreased from 6 to 12 months only in PTs. At 24 months, we observed catch-up growth in 90% of FTs and 87% of PTs. Insulinemia and HOMA-IR decreased from birth to 24 months, in particular between 6 and 12 months. PTs SGA with IUGR were significantly smaller than FTs SGA without IUGR (p = 0.01) and showed a lower length growth velocity. Moreover they showed also higher insulin levels and HOMA-IR at birth; these values decreased at 12 and 24 months. CONCLUSIONS: Our study showed no significant difference between PTs and FTs SGA in auxological and metabolic parameters. However, prematurity with IUGR proved to be a significant factor that should be considered in the timing of auxological follow-up of SGA subjects.
Assuntos
Desenvolvimento Infantil/fisiologia , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Recém-Nascido Pequeno para a Idade Gestacional/metabolismo , Peso ao Nascer/fisiologia , Glicemia/análise , Glicemia/metabolismo , Pesos e Medidas Corporais , Pré-Escolar , Feminino , Retardo do Crescimento Fetal/sangue , Retardo do Crescimento Fetal/metabolismo , Retardo do Crescimento Fetal/fisiopatologia , Seguimentos , Gráficos de Crescimento , Humanos , Lactente , Recém-Nascido/sangue , Recém-Nascido/crescimento & desenvolvimento , Recém-Nascido/metabolismo , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Insulina/sangue , Insulina/metabolismo , Resistência à Insulina/fisiologia , Masculino , Fatores de TempoRESUMO
Nonglucose carbohydrates such as galactose, mannose, and inositol play a clinically important role in fetal and neonatal nutrition, though little is known about their metabolism in the neonate. The aim of this study was to determine whether postprandial changes in plasma carbohydrate and sugar alcohol concentrations are affected by clinical variables such as postnatal age (PNA), milk type, feeding volume, or feeding duration in term newborns. Neonates (n = 26) taking intermittent enteral feedings were enrolled. Blood samples were obtained at baseline (immediately before the start of a feeding) and at 2-3 subsequent time points up to 110 min. Postprandial rise was only observed for plasma glucose concentrations [Glu] and plasma galactose concentrations [Gal] and clinical variables did not predict this change. Despite equimolar delivery in milk, the median of [Glu] rise minus [Gal] rise from baseline to second postprandial plasma sample was 674 microM (-38, 3333 microM; p < 0.0001), reflecting efficient hepatic first-pass metabolism of galactose. A significant PNA effect on [Gal] was observed such that for each day PNA there was an 18% decrease in [Gal] (p = 0.03). [Gal] are a function of PNA, suggesting maintenance of a significant ductus venosus shunt in term infants.
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Carboidratos/sangue , Recém-Nascido/sangue , Leite/metabolismo , Período Pós-Prandial , Álcoois Açúcares/sangue , Animais , Glicemia/metabolismo , Aleitamento Materno , Galactose/sangue , Humanos , Fórmulas InfantisRESUMO
We performed lymphoscintigraphy in 15 patients (newborns and children) affected by congenital lymphatic dysplasia. We suggest that lymphoscintigraphy is mandatory in all patients with signs of lymphatic dysplasia, including those with minimal and initial signs of lymphatic impairment, to obtain very early diagnosis and begin treatment.
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Sistema Linfático/anormalidades , Linfedema/diagnóstico por imagem , Linfocintigrafia , Criança , Pré-Escolar , Quilotórax/diagnóstico por imagem , Quilotórax/etiologia , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/etiologia , Lactente , Recém-Nascido , Linfedema/etiologiaRESUMO
Hashimoto's Thyroiditis (HT) is the most common cause of thyroid diseases in children and adolescents and it is also the most common cause of acquired hypothyroidism with or without goiter. The linkage between HT and some HLA genes has been reported and a genetic predisposition to thyroid autoimmunity is suggested by observations in twins. There is no direct evidence that infections cause HT in humans, while iodine and iodine containing drugs can precipitate HT in susceptible populations. There is an infiltration of lymphocytes and plasma cells between the follicles followed by their atrophy. The clinical course is variable and spontaneous remission may occur in adolescence. Goiter, menstrual disorders, short stature, constipation, nervousness and exophthalmos have been reported as the most recurrent clinical features of HT. Nevertheless we studied 33 patients with HT, 22 girls and 11 boys aged 4.9-19 years and most of them were euthyroid clinically. Hashimoto thyroiditis is often associated with type 1 diabetes and other autoimmune disorders such as coeliac disease, type 2 and type 3 polyglandular autoimmune disorders. Girls with Turner syndrome may develop HT. Patients with HT have positive antibodies to thyroglobulin and/or to thyroperoxidase in blood. Thyroid function could be normal or abnormal (overt hypothyroidism, subclinical hypothyroidism and hyperthyroidism). Abnormal ultrasound patterns may be present in patients with HT disease as diffuse hypoechogenicity and pseudonodules. L-thyroxine therapy is indicated in HT with hypothyroidism, but periodic re-evaluations are required because HT could be a self-limited disorder in some cases.
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Doença de Hashimoto , Predisposição Genética para Doença , Genótipo , Bócio/etiologia , Bócio/imunologia , Antígenos HLA/genética , Antígenos HLA/imunologia , Doença de Hashimoto/complicações , Doença de Hashimoto/genética , Doença de Hashimoto/imunologia , Humanos , Hipotireoidismo/etiologia , Hipotireoidismo/imunologiaAssuntos
Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Hiperplasia Suprarrenal Congênita/metabolismo , Nanismo Hipofisário/tratamento farmacológico , Nanismo Hipofisário/metabolismo , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Hiperplasia Suprarrenal Congênita/complicações , Índice de Massa Corporal , Criança , Proteção da Criança , Pré-Escolar , Nanismo Hipofisário/complicações , Glucocorticoides/uso terapêutico , Humanos , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/efeitos dos fármacos , Fator de Crescimento Insulin-Like I/efeitos dos fármacos , Mineralocorticoides/uso terapêutico , Cooperação do Paciente , Esteroide 21-Hidroxilase/efeitos dos fármacos , Esteroide 21-Hidroxilase/metabolismoRESUMO
Puberty is the acquisition of secondary sexual characteristics associated with a growth spurt and resulting in the attainment of reproductive function. Delayed puberty is diagnosed when there is no breast development by 13.4 years of age in a girl and no testicular enlargement by 14.0 years in a boy. The aetiologies are: (i) pubertal delay, either with constitutional delay of growth and puberty or secondary to chronic illness, and (ii) pubertal failure, with hypogonadotrophic (defect in the hypothalamo-pituitary region) or hypergonadotrophic (secondary to gonadal failure) hypogonadism, or both (secondary to radio/chemotherapy). The investigation includes: history, auxological data and pubertal development examination. Boys usually require treatment and, if they do not respond, investigation. In girls it is appropriate to measure the thyroid function and karyotype first and, if necessary, to offer treatment. If they present with dysmorphic features, or positive familial history, an assessment is required before treatment.
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Puberdade Tardia/terapia , Adolescente , Doença Crônica , Feminino , Humanos , Hipogonadismo/complicações , Masculino , Puberdade/fisiologia , Puberdade Tardia/etiologiaRESUMO
We systematically reviewed a series of patients (n = 85) with midline cerebral and cranial malformations to correlate the endocrinopathy with the neuroanatomic defect. Midline cleft lip and palate was associated not only with growth hormone deficiency (GHD) but also with diabetes insipidus (DI); holoprosencephaly and optic nerve hypoplasia with absence of the septum pellucidum had a similar incidence of GHD and DI. Optic nerve hypoplasia with absence of the septum pellucidum had the highest incidence of multiple pituitary endocrinopathies and of neonatal hypoglycaemia. Unilateral, although more commonly bilateral, optic nerve hypoplasia was associated with GHD.