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1.
Am J Perinatol ; 33(1): 63-70, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26216235

RESUMEN

OBJECTIVE: This study aims to describe the impact of twin birth, chorionicity, intertwin birth weight (BW) discordance and birth order on neonatal outcomes. STUDY DESIGN: We performed a hospital-based retrospective study on 2,170 twins (6.4% of all live births) and 2,217 singletons inborn 2007 to 2011. Data on neonatal characteristics, morbidities, and mortality were collected and compared. Univariate and multiple (adjusted for gestational age [GA] and gender) linear random intercept regression models were used. RESULTS: Overall, 62.3% of twins were born premature. At multiple regression, twins were similar to singletons for neonatal morbidities, but they were more likely to have lower BW and to be born by cesarean delivery. Monochorionic twins had lower GA and BW compared with dichorionic ones and were more likely to develop respiratory distress syndrome (odds ratio [OR], 1.7), hypoglycemia (OR, 3.3), need for transfusion, (OR, 3.4) but not brain abnormalities. Moderate and severe BW discordance were associated with longer length of stay and increased risk for morbidities but not for death. Birth order had no effects. CONCLUSION: Prematurity was the most common outcome in twins and accounted for the apparently increased risk in morbidities. Monochorionicity was confirmed as risk factor for lower GA and neonatal morbidities. BW discordance may play a role in developing neonatal complications and needs to be further investigated.


Asunto(s)
Cesárea/estadística & datos numéricos , Corion/diagnóstico por imagen , Hipoglucemia/epidemiología , Recien Nacido Extremadamente Prematuro , Recién Nacido de Bajo Peso , Síndrome de Dificultad Respiratoria del Recién Nacido/epidemiología , Adulto , Peso al Nacer , Femenino , Edad Gestacional , Humanos , Lactante , Mortalidad Infantil , Recién Nacido , Italia , Modelos Logísticos , Masculino , Oportunidad Relativa , Embarazo , Embarazo Gemelar , Estudios Retrospectivos , Ultrasonografía Prenatal
2.
Clin Chem Lab Med ; 53(2): 265-73, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25153405

RESUMEN

BACKGROUND: Apixaban is a newly developed direct oral anticoagulant targeting activated factor X (FXa). The degree of interference of apixaban with coagulation parameters has not been thoroughly investigated. METHODS: Increasing amounts of apixaban were added to aliquots of a pooled normal plasma (PNP) to mimic a large range of concentrations (n=8) that are observed in treated patients. Upon preparation, samples were stored frozen and tested for a vast array of coagulation parameters (including procoagulant and anticoagulant factors) in three laboratories, using three widely used coagulation platforms (reagent/coagulometer combinations). RESULTS: Results for each parameter were expressed as ratios of the value corresponding to each apixaban concentration to the value corresponding to the PNP without apixaban. By definition, ratios higher or lower than the unity define overestimation or underestimation, respectively. Prothrombin and activated partial thromboplastin times were barely prolonged by apixaban 200 ng/mL (ratios <1.29 or <1.19, respectively). Conversely, antithrombin was considerably overestimated when the measurement was made with FXa as target enzyme (ratios up to 1.43). Protein C and protein S were overestimated when measured as anticoagulant activities (ratios up to 1.20 or 1.95, respectively), and most measurements for individual coagulation factors (except fibrinogen) were considerably underestimated (ratios from 0.62 to 1.01). CONCLUSIONS: This large multicenter multiplatform study investigating a common set of test plasmas shows that apixaban interferes with the measurement of most coagulation parameters requested for investigation of hemostasis and highlights the need for a careful interpretation of results obtained in patients under treatment.


Asunto(s)
Anticoagulantes/farmacología , Hemostasis/efectos de los fármacos , Pirazoles/farmacología , Piridonas/farmacología , Administración Oral , Anticoagulantes/administración & dosificación , Anticoagulantes/sangre , Coagulación Sanguínea/efectos de los fármacos , Voluntarios Sanos , Humanos , Pirazoles/administración & dosificación , Pirazoles/sangre , Piridonas/administración & dosificación , Piridonas/sangre
3.
Radiol Med ; 120(11): 1056-63, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25903560

RESUMEN

PURPOSE: To understand the meaning of diffuse excessive high signal intensity (DEHSI) of white matter (WM), a frequently observed finding on MR in VLBW infants at a corrected term age. METHODS: This is a retrospective study. Qualitative visual assessment of cerebral WM signal intensity on T2WI was performed by two readers on 78 VLBW infants, scanned on a 1.5 T-MRI at term equivalent age. ADC values were then measured in six regions of interest: four in frontal and parietal periventricular and two in parietal subcortical WM. Mean ADC values were then compared with qualitative visual assessment and with mean ADC values obtained ten term healthy babies. Both periventricular and subcortical mean ADC values were correlated with the neurological follow-up, evaluated with the Griffith's mental developmental scale at 36 months. RESULTS: There was no agreement between the visual qualitative assessment of white matter DEHSI and corresponding ADC values (P values = 0.42 for periventricular WM; P values = 0.18 for subcortical WM). Mean ADC values were higher in preterms than in term babies (P values <0.001). No significant correlation was found between ADC values and the developmental quotient at 36 months (P values >0.05). CONCLUSIONS: DEHSI in VLBW infants is a MR finding poorly defined with conventional T2 MRI. The presence of T2 hyperintensities weakly correlates with ADC, and ADC values are not associated with the neurological long-term outcome at 3 years, demonstrating that DEHSI should not be considered as a WM disease.


Asunto(s)
Encéfalo/anatomía & histología , Encéfalo/crecimiento & desarrollo , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Imagen por Resonancia Magnética/métodos , Sustancia Blanca/anatomía & histología , Preescolar , Femenino , Humanos , Masculino , Estudios Retrospectivos
4.
Pediatr Med Chir ; 37(3): pmc.2015.106, 2015 Dec 29.
Artículo en Inglés | MEDLINE | ID: mdl-26714779

RESUMEN

Extremely preterm babies are at major risk for adverse neurodevelopmental outcome, being the gestational age (GA) the main determinant for a good-quality survival. Aim of this retrospective study was to investigate the neurodevelopmental outcome in a population of extremely preterm babies admitted to a single neonatal tertiary care unit over an 8-year period. All babies born between 23+0 and 25+6 weeks of GA from January 2003 until December 2010 were retrospectively enrolled. Perinatal and neonatal variables were recorded. Motor and cognitive development was assessed using the neurofunctional scale (NFS) and the Griffith's scales at 2 years. Fifty-five out of 122 infants survived to discharge. Survival rates doubled for each additional gestational week from 23 to 25: 16%, 38% and 74% at 23, 24 and 25 weeks GA respectively. Forty-six infants were evaluated at 2 years. A poor cognitive and motor outcome was observed in all babies born at 23 weeks. Griffith's general quotient (GQ) was ≥76 in 62% and ≥88 in 33% of babies born between 24 and 25 weeks. No severe motor disabilities were found in 81% of babies born between 24 and 25 weeks. Preterm premature rupture of membranes, absence of prenatal steroids, intrauterine growth restriction, male, lower GA and major brain abnormalities at magnetic resonance imaging (MRI) were significantly associated with worse NFS and lower mean GQ at 2 years of age. GA, gender and abnormal MRI findings remained significantly associated with impaired NFS at the multivariate analysis. Survival rates and neurodevelopmental outcome improved with each week of GA. These results are relevant for clinicians counselling families facing an unavoidable extremely preterm birth.


Asunto(s)
Desarrollo Infantil/fisiología , Cognición/fisiología , Discapacidades del Desarrollo/epidemiología , Trastornos del Neurodesarrollo/epidemiología , Preescolar , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Lactante , Recien Nacido Extremadamente Prematuro , Recién Nacido , Italia/epidemiología , Masculino , Trastornos Motores/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Tasa de Supervivencia , Centros de Atención Terciaria
5.
Pediatr Radiol ; 44(3): 289-96, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24292861

RESUMEN

BACKGROUND: Intracranial haemorrhage (ICH) in term newborns has been increasingly recognised but the occurrence in late preterm infants and the clinical presentation are still unclear. OBJECTIVE: To investigate the appearance of intracranial haemorrhage at MRI in a cohort of infants born at 34 weeks' gestation or more and to correlate MRI findings with neonatal symptoms. MATERIALS AND METHODS: We retrospectively reviewed neonatal brain MRI scans performed during a 3-year period. We included neonates ≥34 weeks' gestation with intracranial haemorrhage and compared findings with those in babies without intracranial haemorrhage. Babies were classified into three groups according to haemorrhage location: (1) infratentorial, (2) infra- and supratentorial, (3) infra- and supratentorial + parenchymal involvement. RESULTS: Intracranial haemorrhage was observed in 36/240 babies (15%). All of these 36 had subdural haemorrhage. Sixteen babies were included in group 1; 16 in group 2; 4 in group 3. All infants in groups 1 and 2 were asymptomatic except one who was affected by intraventricular haemorrhage grade 3. Among the infants in group 3, who had intracranial haemorrhage with parenchymal involvement, three of the four (75%) presented with acute neurological symptoms. Uncomplicated spontaneous vaginal delivery was reported in 20/36 neonates (56%), vacuum extraction in 4 (11%) and caesarean section in 12 (33%). Babies with intracranial haemorrhage had significantly higher gestational age (38 ± 2 weeks vs. 37 ± 2 weeks) and birth weight (3,097 ± 485 g vs. 2,803 ± 741 g) compared to babies without intracranial haemorrhage and were more likely to be delivered vaginally than by caesarian section. CONCLUSION: Mild intracranial haemorrhage (groups 1 and 2) is relatively common in late preterm and term infants, although it mostly represents an incidental finding in clinically asymptomatic babies; early neurological symptoms appear to be related to parenchymal involvement.


Asunto(s)
Hemorragias Intracraneales/epidemiología , Hemorragias Intracraneales/patología , Imagen por Resonancia Magnética/estadística & datos numéricos , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Italia/epidemiología , Masculino , Prevalencia , Reproducibilidad de los Resultados , Medición de Riesgo , Sensibilidad y Especificidad
6.
J Clin Virol ; 173: 105664, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38493709

RESUMEN

BACKGROUND: Non-polio enteroviruses (EV) and human parechoviruses (HPeV) are known etiological agents of meningoencephalitis in neonates. However, reports of neuroradiological findings and neurodevelopmental outcomes in this population are scarce. OBJECTIVES: to describe clinical characteristics, neuroradiological findings and, in a subset of patients, neurodevelopmental outcomes in a cohort of infants with EV or HPeV meningoencephalitis within 60 days of life. STUDY DESIGN: clinical/laboratory data, neuroradiological findings (cranial ultrasound, cUS, brain magnetic resonance imaging, MRI), and neurodevelopmental outcomes assessed by Ages and Stages Questionnaires - third edition were prospectively collected. RESULTS: overall, 32 infants with EV (21, 67.8 %) or HPeV (11, 28.2 %) meningoencephalitis were enrolled. Infants with HPeV (73 %: type 3 HPeV) presented more frequently with seizures (18.2 % vs. 0, p value=0.03), lymphopenia (1120 vs. 2170 cells/mm3, p = 0.02), focal anomalies at electroencephalography (EEG) (63.6 vs. 23.8 %, p = 0.03), and pathological findings at MRI (72.7 % vs. 15.8 %, p value=0.004) compared to those affected by EV. cUS was not significantly altered in any of the enrolled infants. All infants with EV meningoencephalitis evaluated at 12-24 months and at 30-48 months were normal. Two out of the 7 infants with HPeV meningoencephalitis showed some concerns in gross motor (1/7, 14.3 %) or in problem solving (1/7, 14.3 %) function at 30-48 months of age. CONCLUSIONS: In our cohort, neonates infected by HPeV had more severe clinical manifestations, more alterations at brain MRI, and some signs of long-term neurodevelopmental delay. Our data highlight the heterogeneity of manifestations in infants with EV or HPeV meningoencephalitis, and the need for long-term follow-up of those infected by HPeV in the neonatal period.


Asunto(s)
Infecciones por Enterovirus , Enterovirus , Unidades de Cuidado Intensivo Neonatal , Imagen por Resonancia Magnética , Meningoencefalitis , Parechovirus , Infecciones por Picornaviridae , Humanos , Meningoencefalitis/virología , Meningoencefalitis/diagnóstico por imagen , Estudios Prospectivos , Infecciones por Picornaviridae/patología , Infecciones por Picornaviridae/virología , Infecciones por Enterovirus/virología , Infecciones por Enterovirus/patología , Masculino , Recién Nacido , Enterovirus/aislamiento & purificación , Femenino , Lactante , Electroencefalografía , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/virología
7.
Clin Case Rep ; 10(8): e6256, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36017115

RESUMEN

We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff-Parkinson-White syndrome. Whole-exome sequencing showed a pathogenic variant in the NRAS gene, but no mutations were found in PI3K/AKT/mTOR pathway genes.

8.
Pediatr Res ; 69(6): 561-6, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21386750

RESUMEN

Our aim was to compare white matter (WM) microstructure in preterm infants with and without punctate WM lesions on MRI using tract-based spatial statistics (TBSS) and probabilistic tractography. We studied 23 preterm infants with punctate lesions, median GA at birth 30 (25-35) wk, and 23 GA- and sex-matched preterm controls. TBSS and tractography were performed to assess differences in fractional anisotropy (FA) between the two groups at term equivalent age. The impact of lesion load was assessed by performing linear regression analysis of the number of lesions on term MRI versus FA in the corticospinal tracts in the punctate lesions group. FA values were significantly lower in the posterior limb of the internal capsule, cerebral peduncles, decussation of the superior cerebellar peduncles, superior cerebellar peduncles, and pontine crossing tract in the punctate lesions group. There was a significant negative correlation between lesion load at term and FA in the corticospinal tracts (p = 0.03, adjusted r² = 0.467). In conclusion, punctate lesions are associated with altered microstructure in the WM fibers of the corticospinal tract at term equivalent age.


Asunto(s)
Encéfalo/patología , Imagen de Difusión Tensora/métodos , Recien Nacido Prematuro , Fibras Nerviosas Mielínicas/patología , Encéfalo/anatomía & histología , Femenino , Edad Gestacional , Humanos , Recién Nacido , Embarazo
9.
Neuroradiology ; 52(6): 505-21, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20422407

RESUMEN

Periventricular leucomalacia (PVL) and parenchymal venous infarction complicating germinal matrix/intraventricular haemorrhage have long been recognised as the two significant white matter diseases responsible for the majority of cases of cerebral palsy in survivors of preterm birth. However, more recent studies using magnetic resonance imaging to assess the preterm brain have documented two new appearances, adding to the spectrum of white matter disease of prematurity: punctate white matter lesions, and diffuse excessive high signal intensity (DEHSI). These appear to be more common than PVL but less significant in terms of their impact on individual neurodevelopment. They may, however, be associated with later cognitive and behavioural disorders known to be common following preterm birth. It remains unclear whether PVL, punctate lesions, and DEHSI represent a continuum of disorders occurring as a result of a similar injurious process to the developing white matter. This review discusses the role of MR imaging in investigating these three disorders in terms of aetiology, pathology, and outcome.


Asunto(s)
Encéfalo/patología , Enfermedades Desmielinizantes/patología , Recien Nacido Prematuro , Fibras Nerviosas Mielínicas/patología , Femenino , Humanos , Recién Nacido , Masculino
10.
Front Pediatr ; 8: 291, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32582595

RESUMEN

Objectives: To determine the effectiveness of an early intervention program in enhancing visual function in very preterm infants. Methods: We conducted a RCT. We included preterm infants born between 25+0 and 29+6 weeks of gestational age (GA), without severe morbidities, and their families. Infants were randomized to either receive Standard Care (SC) or Early Intervention (EI). SC, according to NICU protocols, included Kangaroo Mother Care and minimal handling. EI included, in addition to routine care, parental training according to the PremieStart program, and multisensory stimulation (infant massage and visual interaction) performed by parents. Visual function was assessed at term equivalent age (TEA) using a prevalidated battery evaluating ocular spontaneous motility, ability to fix and follow a target, reaction to color, stripes discrimination and visual attention at distance. Results: Seventy preterm (EI n = 34, SC n = 36) infants were enrolled. Thirteen were excluded according to protocol. Fifty-seven infants (EI = 27, SC = 30) were assessed at TEA. The two groups were comparable for parental and infant characteristics. In total, 59% of infants in the EI group achieved the highest score in all the nine assessed items compared to 17% in the SC group (p = 0.001): all infants in both groups showed complete maturation in four items, but EI infants showed more mature findings in the other five items (ocular motility both spontaneous and with target, tracking arc, stripes discrimination and attention at distance). Conclusions: Our results suggest that EI has a positive effect on visual function maturation in preterm infants at TEA. Trial Registration: clinicalTrial.gov (NCT02983513).

11.
Brain ; 131(Pt 2): 573-82, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18222994

RESUMEN

Children born prematurely have a high incidence of visual disorders which cannot always be explained by focal retinal or brain lesions. The aim of this study was to test the hypothesis that visual function in preterm infants is related to the microstructural development of white matter in the optic radiations. We used diffusion tensor imaging (DTI) with probabilistic diffusion tractography to delineate the optic radiations at term equivalent age and compared the fractional anisotropy (FA) to a contemporaneous evaluation of visual function. Thirty-seven preterm infants (19 male) born at median (range) 28(+4) (24(+1)-32(+3)) weeks gestational age, were examined at a post-menstrual age of 42 (39(+6)-43) weeks. MRI and DTI were acquired on a 3 Tesla MR system with DTI obtained in 15 non-collinear directions with a b value of 750 s/mm(2). Tracts were generated from a seed mask placed in the white matter lateral to the lateral geniculate nucleus and mean FA values of these tracts were determined. Visual assessment was performed using a battery of nine items assessing different aspects of visual abilities. Ten infants had evidence of cerebral lesions on conventional MRI. Multiple regression analysis demonstrated that the visual assessment score was independently correlated with FA values, but not gestational age at birth, post-menstrual age at scan or the presence of lesions on conventional MRI. The occurrence of mild retinopathy of prematurity did not affect the FA measures or visual scores. We then performed a secondary analysis using tract-based spatial statistics to determine whether global brain white matter development was related to visual function and found that only FA in the optic radiations was correlated with visual assessment score. Our results suggest that in preterm infants at term equivalent age visual function is directly related to the development of white matter in the optic radiations.


Asunto(s)
Recien Nacido Prematuro/fisiología , Visión Ocular/fisiología , Vías Visuales/anatomía & histología , Percepción Visual/fisiología , Anisotropía , Encéfalo/anatomía & histología , Encéfalo/crecimiento & desarrollo , Mapeo Encefálico/métodos , Ventrículos Cerebrales/patología , Imagen de Difusión por Resonancia Magnética/métodos , Dilatación Patológica/patología , Dilatación Patológica/fisiopatología , Dilatación Patológica/psicología , Movimientos Oculares/fisiología , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro/psicología , Enfermedades del Prematuro/patología , Enfermedades del Prematuro/fisiopatología , Enfermedades del Prematuro/psicología , Masculino , Vías Visuales/crecimiento & desarrollo , Vías Visuales/fisiología
12.
J Pediatr Gastroenterol Nutr ; 45 Suppl 3: S143-6, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18185080

RESUMEN

Preterm birth still results in a high number of neurodevelopmental sequelae, although major forms of brain lesions--such as periventricular leukomalacia and intraventricular hemorrhage--are significantly reduced in this population of babies compared with a few years ago. This paper focuses on the possible reasons for this phenomenon. Some brain lesions, such as those affecting the periventricular white matter and the cerebellum, may be underestimated if magnetic resonance imaging is not used. In addition, a functional neurological consequence is not necessarily due to a recognized brain lesion, but may simply derive from an abnormally or suboptimally developed brain structure. The quality of nutrition given to a preterm baby could play a crucial role in such cases. In fact, nutrition is known to affect brain function; a case in point is the improvement in visual function resulting from dietary essential fatty acids. Finally, research in this area should aim at both reducing potential hazards and improving the quality of perinatal care, including the quality of nutrition.


Asunto(s)
Encéfalo/crecimiento & desarrollo , Encéfalo/patología , Recien Nacido Prematuro/crecimiento & desarrollo , Encefalopatías/etiología , Encefalopatías/patología , Humanos , Lactante , Recién Nacido , Estado Nutricional
13.
Heart ; 103(1): 71-77, 2017 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-27465055

RESUMEN

OBJECTIVES: Despite modern reperfusion therapies, left ventricular remodelling (LVR) occurs frequently after an ST-elevated myocardial infarction (STEMI) and represents a strong predictor of mortality and heart failure. Galectin-3 (Gal-3), a novel biomarker involved in inflammation, tissue repair and fibrogenesis, might be a valuable predictor of LVR. METHODS: We enrolled consecutively admitted patients with a first anterior STEMI and left anterior descending artery occlusion treated by primary percutaneous coronary intervention (pPCI). Gal-3, N-terminal pro-B-type natriuretic peptide (NT-proBNP), echocardiography and cardiovascular events were evaluated 48 hours after admission, at 1 and 6 months. LVR was defined as a ≥15% increase in LV end-systolic volume. RESULTS: We recruited 103 patients (28% women, aged 64.6±12 years, LV ejection fraction 47±11%). Median baseline Gal-3 and NT-proBNP levels were 13.2 ng/mL (10.8-17.1 ng/mL) and 2132 pg/mL (1019-4860 pg/mL) respectively. During 6 months of follow-up, 4 patients dropped out, 7 died and 26 (28.3%) of the 92 survivors developed LVR (LVR+). LVR+ patients had higher Gal-3 levels at baseline, 1 and 6 months than LVR- (p<0.0001). By univariable logistic regression, age, female gender, higher baseline Gal-3 and NT-proBNP, smaller LV end-diastolic volume (LVEDV) were associated to an increased risk of LVR. By multivariable analysis, only LVEDV (OR 0.96, 95% CI 0.93 to 0.99/1 mL change) and Gal-3 levels (OR 1.22, 95% CI 1.06 to 1.42/1 ng/mL change) independently predicted LVR (C-statistics 0.84, 95% CI 0.75 to 0.93). CONCLUSION: Gal-3 serum levels measured during hospitalisation could be clinically useful in predicting LVR among patients admitted with anterior STEMI treated by pPCI.


Asunto(s)
Infarto de la Pared Anterior del Miocardio/fisiopatología , Infarto de la Pared Anterior del Miocardio/terapia , Galectina 3/sangre , Intervención Coronaria Percutánea/métodos , Remodelación Ventricular/fisiología , Anciano , Biomarcadores/sangre , Femenino , Estudios de Seguimiento , Hospitalización , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Péptido Natriurético Encefálico/sangre , Fragmentos de Péptidos/sangre , Pronóstico , Estudios Prospectivos , Curva ROC , Volumen Sistólico/fisiología
14.
Brain Dev ; 39(4): 345-348, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27876397

RESUMEN

BACKGROUND: Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction. PATIENT DESCRIPTION: A 2-day-old male infant presented with epileptic encephalopathy characterized by burst-suppression EEG background and tonic-clonic migrating partial seizures. The condition was refractory to phenobarbital, pyridoxine, pyridoxal phosphate and levetiracetam, but a dramatic response to an intravenous loading dose of phenytoin was documented by video-EEG monitoring. Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A>G]p.[Met1545Val]) in SCN2A. At two years and three months of age the patient is still seizure-free on carbamazepine, although a developmental delay is evident. CONCLUSIONS: Sodium channel blockers represent the first-line treatment for confirmed or suspected SCN2A-related epileptic encephalopathies. In severe cases with compatible electro-clinical features we propose a treatment algorithm based on a test trial with high dose intravenous phenytoin followed in case of a positive response by carbamazepine, more suitable for long-term maintenance treatment. Because of their rarity, collaborative studies are needed to delineate shared therapeutic protocols for EIEE based on the electro-clinical features and the presumed underlying genetic substrate.


Asunto(s)
Carbamazepina/uso terapéutico , Canal de Sodio Activado por Voltaje NAV1.2/genética , Fenitoína/uso terapéutico , Bloqueadores de los Canales de Sodio/uso terapéutico , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/genética , Anticonvulsivantes/uso terapéutico , Encéfalo/diagnóstico por imagen , Encéfalo/efectos de los fármacos , Encéfalo/fisiopatología , Relación Dosis-Respuesta a Droga , Humanos , Recién Nacido , Masculino , Espasmos Infantiles/diagnóstico por imagen , Espasmos Infantiles/fisiopatología , Resultado del Tratamiento
15.
J Matern Fetal Neonatal Med ; 28 Suppl 1: 2280-5, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23968333

RESUMEN

For many years cerebellar development after preterm birth has been poorly investigated and has been studied without taking germinal matrix-intraventricular haemorrhage into account. Advanced neuroimaging techniques like magnetic resonance imaging, as well as the use of various acoustic windows (mastoid fontanelle, occipital foramen) have allowed for in vivo diagnosis of acquired focal haemorrhagic lesions in the cerebellum of very preterm babies. The vulnerability of the cerebellum also seems to be related to specific gestational ages, i.e., between 23 and 27 weeks, when rapid growth in cerebellar volume occurs and at a much faster rate than mean brain volume increase. In this paper, the contribution of the cerebellum in long-term motor cognitive, learning and behavioural functions, including psychiatric ones, is discussed.


Asunto(s)
Encéfalo/embriología , Cerebelo/irrigación sanguínea , Enfermedades del Prematuro , Recien Nacido Prematuro , Hemorragias Intracraneales , Encéfalo/patología , Encéfalo/fisiopatología , Cerebelo/crecimiento & desarrollo , Cerebelo/fisiopatología , Ventrículos Cerebrales/irrigación sanguínea , Ecoencefalografía , Edad Gestacional , Humanos , Recién Nacido , Hemorragias Intracraneales/complicaciones , Hemorragias Intracraneales/diagnóstico , Hemorragias Intracraneales/fisiopatología , Trastornos del Neurodesarrollo/etiología
16.
Ital J Pediatr ; 41: 65, 2015 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-26400481

RESUMEN

BACKGROUND: Late preterm infants are the most represented premature babies. They are exposed to a wide spectrum of brain lesions which are often clinically silent, supporting a possible role of cerebral ultrasound screening. Aim of the study is to describe the pattern of cranial ultrasound abnormalities in late preterm infants and to define the need for cranial ultrasound according to perinatal risk factors. METHODS: A hospital-based cranial ultrasound screening was carried out by performing two scans (at 1 and 5 weeks). Unfavorable cranial ultrasound at 5 weeks was defined as either persistent periventricular hyperechogenicity or severe abnormalities. RESULTS: One thousand one hundred seventy-two infants were included. Periventricular hyperechogenicity and severe abnormalities were observed in, respectively, 19.6 % and 1 % of late preterms at birth versus 1.8 % and 1.4 % at 5 weeks. Periventricular hyperechogenicity resolved in 91.3 %. At the univariate analysis gestational age (OR 0.5, 95 % CI 0.32-0.77), Apgar score <5 at 5' (OR 15.3, 1.35-173) and comorbidities (OR 4.62, 2.39-8.98) predicted unfavorable ultrasound at 5 weeks. At the multivariate analysis the accuracy in predicting unfavorable ultrasound, estimated by combined gestational age/Apgar/comorbidities ROC curve, was fair (AUC 74.6) and increased to excellent (AUC 89.4) when ultrasound at birth was included. CONCLUSION: Gestational age and comorbitidies are the most important risk factors for detecting brain lesions. The combination of being born at 34 weeks and developing RDS represents the strongest indication to perform a cranial ultrasound. Differently from other studies, twin pregnancy doesn't represent a risk factor.


Asunto(s)
Encefalopatías/diagnóstico por imagen , Ecoencefalografía/métodos , Enfermedades del Prematuro/diagnóstico por imagen , Recien Nacido Prematuro , Femenino , Estudios de Seguimiento , Edad Gestacional , Humanos , Recién Nacido , Masculino , Reproducibilidad de los Resultados , Estudios Retrospectivos , Factores de Riesgo
17.
Cortex ; 56: 30-7, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22482694

RESUMEN

INTRODUCTION: Visual impairment in preterm infants at term equivalent age (TEA) is associated with impaired microstructural development in the optic radiation, measured as reduced fractional anisotropy (FA) by Diffusion Tensor Imaging (DTI). We tested the hypothesis that these abnormalities develop during the late preterm period. METHODS: DTI was performed in 53 infants born at a median (range) of 30(+1) (25(+4)-34(+6)) weeks post-menstrual age (PMA), 22 of whom were imaged twice. RESULTS: FA in the optic radiation at TEA was related to: visual function (p = .003); PMA at birth (p = .015); and PMA at scan (p = .008); while a significant interaction between PMA at birth and scan (p = .019) revealed an effect of the period of premature extra-uterine life additional to the degree of prematurity. We explored this further in a sub-group of 22 infants who were studied twice. FA increased from mean (95% CI) .174 (.164-.176) on the first image at 32(+5) (29(+5)-36) weeks PMA, to .198 (.190-.206) on the second image at 40(+6) (39(+2)-46) weeks PMA. Visual function was not predicted by FA on the images obtained in the early neonatal period, but was significantly related to the rate of increase in FA between scans (p = .027) and to FA on the second image (p = .015). CONCLUSION: Microstructural maturation during the late preterm period is thus required for normal visual function, suggesting that interventions applied after 30 weeks PMA might reduce impairment in preterm infants.


Asunto(s)
Encéfalo/fisiopatología , Fibras Nerviosas Mielínicas/fisiología , Trastornos de la Visión/fisiopatología , Visión Ocular/fisiología , Anisotropía , Encéfalo/crecimiento & desarrollo , Imagen de Difusión Tensora , Femenino , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Masculino
18.
Thrombosis ; 2012: 835356, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23097696

RESUMEN

Anticoagulation Clinics (ACs) are services specialized in management of patients on anticoagulant treatment. At present, ACs manage patients chiefly on antivitamin K antagonists (AVKs), but patient population has already changed in the last few years, because of an increase of treatments with other anticoagulant drugs, which require different management systems. The strong increase in the number of patients at AC, mainly on long-term treatment, has determined the development of web management, through telemedicine systems, improving the quality of life and maintaining the same clinical quality levels. New oral anticoagulants (NOAs) have shown to be as effective as AVK antagonists in stroke prevention in atrial fibrillation and for treatment of venous thromboembolism in addition to VTE prophylaxis in orthopaedic surgery, when administered at a fixed dose, but patient adherence and compliance are crucial for good quality treatment. At present, lacking data from the real world, an oversimplification of treatment with NOAs could cause unjustified risks for patients and also a possible future underuse of good drugs. For these reasons the vigilance must be high and ACs can have a crucial role in defining which is the best management for NOA patients and how to do it, as it happened for AVKs.

19.
Early Hum Dev ; 86 Suppl 1: 73-5, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20153942

RESUMEN

The presence of abnormal visual function has been related to overt lesions in the thalami, peritrigonal white matter (such as cavitational-necrotic periventricular leucomalacia) and optic radiations, and also to the extent of occipital cortex involvement. The normal development of visual function seems to depend on the integrity of a network that includes not only optic radiations and the primary visual cortex but also other cortical and subcortical areas, such as the frontal or temporal lobes or basal ganglia, which have been found to play a topical role in the development of vision. Therefore, the complex functions and functional connectivity of the developing brain of premature infants can be studied only with highly sophisticated techniques such as diffusion tensor tractography. The combined use of visual tests and neonatal structural and functional neuroimaging, which have become available for newborn infants, provides a better understanding of the correlation between structure and function from early life. This appears to be particularly relevant considering the essential role of early visual function in cognitive development. The identification of early visual impairment is also important, as it allows for early enrolment in intervention programmes. The association of clinical and functional studies to newer imaging techniques, which are being increasingly used also in neonates, are likely to provide further information on early aspects of vision and the mechanisms underlying brain plasticity, which are still not fully understood. Early exposure to a difficult postnatal environment together with early and unexpected removal from a protective milieu are exclusive and peculiar factors of prematurity that interfere with the normal development of the visual system in pre-term babies. The problem is further compounded by the influence of different perinatal brain lesions affecting the developing brain of premature babies. Nevertheless, in the last few decades, there have been considerable advances in our understanding of the development of vision in pre-term infants during early infancy. This has mainly been due to the development of age-specific tests assessing various aspects of visual function, from ophthalmological examination to more cortical aspects of vision, such as the ability to process orientation or different aspects of visual attention [1-7]. Improvements in understanding very early and specific neurological impairments in neurological functions have been reported in pre-term infants, known to be at risk of developing visual and visual-perceptual impairment. These impairments are due not only to retinopathy, a common finding in premature infants, but also to cerebral (central) visual impairment, secondary to brain lesions affecting the central visual pathway.


Asunto(s)
Encéfalo/crecimiento & desarrollo , Enfermedades del Prematuro/etiología , Recien Nacido Prematuro/crecimiento & desarrollo , Trastornos de la Visión/congénito , Trastornos de la Visión/etiología , Agudeza Visual/fisiología , Encéfalo/citología , Encefalopatías/complicaciones , Encefalopatías/congénito , Encefalopatías/fisiopatología , Humanos , Recién Nacido , Recien Nacido Prematuro/fisiología , Enfermedades del Prematuro/fisiopatología , Trastornos de la Visión/fisiopatología , Visión Ocular/fisiología
20.
Semin Fetal Neonatal Med ; 14(5): 278-83, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19699161

RESUMEN

Cerebral sinovenous thrombosis (CSVT) is an uncommon condition among paediatric patients involving major sinuses, with a preponderant occurrence in neonates. The clinical presentation is unspecific, either early, within 48h from birth, or later. An early presentation may be accompanied by several comorbidities (respiratory distress, poor tone, fetal distress, asphyxia), whereas a later presentation is more often associated with conventional neurological signs such as seizures, lethargy, apnoea and poor feeding. These differences in clinical presentation render the neuroradiological diagnosis difficult, in particular before the introduction of magnetic resonance imaging. The interest in CSVT is based on the complex pathogenesis, often resulting from a combination of inherited and acquired thrombophilic patterns. In addition, the course of CSVT can be influenced by medical treatment, currently based on the consensus of experts more than on randomised trials.


Asunto(s)
Trombosis de los Senos Intracraneales , Encéfalo/irrigación sanguínea , Encéfalo/patología , Isquemia Encefálica/patología , Humanos , Recién Nacido , Trombosis de los Senos Intracraneales/diagnóstico , Trombosis de los Senos Intracraneales/epidemiología , Trombosis de los Senos Intracraneales/terapia , Trombofilia/congénito , Resultado del Tratamiento
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