RESUMEN
The updated Guidelines on Prevention of Perinatal Group B Streptococcal Disease, issued by the Centers for Disease Control and Prevention, actually represent the mainstay in the prevention of neonatal early-onset group B streptococcal (GBS) sepsis. According to these guidelines, patients with possible preterm delivery are screened for GBS colonization and offered intrapartum prophylaxis only if they enter preterm labor or experience preterm premature rupture of the membranes. Nonetheless, the fulfillment of these recommendations seems to be suboptimal in clinical practice, as it is heavily influenced by the knowledge of the colonization status. We report here 2 cases of blood culture-proven, early-onset neonatal GBS sepsis involving preterm infants delivered by mothers who had midtrimester cervical insufficiency and bulging membranes. Midtrimester acute cervical insufficiency strongly predicts preterm delivery. These women are liable to miss intrapartum antibiotic prophylaxis because they typically have shorter labor, and the test results for GBS status are unlikely to be available before delivery. We believe that women with midtrimester cervical insufficiency and bulging membranes should be screened for GBS infection soon after hospital admittance if the gestational age is close to the threshold of fetal viability. A timely diagnosis of GBS colonization may not only increase the number of patients receiving targeted intrapartum antibiotic prophylaxis but would also allow consideration of the administration of antepartum antibiotic prophylaxis. Indeed, as further outlined in this report, GBS intraamniotic infection may dramatically occur before the onset of preterm labor or preterm premature rupture of the membranes.
Asunto(s)
Profilaxis Antibiótica , Adhesión a Directriz , Enfermedades del Prematuro/prevención & control , Choque Séptico/prevención & control , Infecciones Estreptocócicas/prevención & control , Streptococcus agalactiae , Incompetencia del Cuello del Útero/tratamiento farmacológico , Adulto , Parálisis Cerebral/diagnóstico , Parálisis Cerebral/etiología , Cesárea , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Enfermedades del Prematuro/diagnóstico , Enfermedades del Prematuro/etiología , Trabajo de Parto Prematuro/tratamiento farmacológico , Embarazo , Choque Séptico/diagnóstico , Choque Séptico/etiología , Infecciones Estreptocócicas/diagnóstico , Infecciones Estreptocócicas/etiologíaRESUMEN
Early onset sepsis (EOS) is a severe problem affecting very low birth weight (VLBW) infants and is associated with a threefold increased risk of mortality. Although advances in perinatal care have led to improved survival of VLBW infants over recent decades, survival without major neonatal morbidity has not increased. The authors reviewed the current literature on EOS, focusing on the peculiarities concerning risk factors, etiology, diagnosis, treatment and outcome in very low birth weight infants, and on the recent advances in the management of this condition.
Asunto(s)
Enfermedades del Prematuro/tratamiento farmacológico , Sepsis/tratamiento farmacológico , Humanos , Recién Nacido , Enfermedades del Prematuro/diagnóstico , Enfermedades del Prematuro/epidemiología , Recién Nacido de muy Bajo Peso , Factores de Riesgo , Sepsis/diagnóstico , Sepsis/epidemiología , Resultado del TratamientoRESUMEN
The recent development of therapeutic approaches for Duchenne muscular dystrophy (DMD) has highlighted the need to identify clinical outcome measures for planned efficacy studies. Although several studies have reported the value of functional scales, timed tests, and measures of endurance aimed at ambulant individuals, less has been done to identify reliable measures of function in individuals who have lost ambulation. The aim of this paper is to provide a critical review of the existing literature on functional measures assessing upper extremity function in DMD. Four observer-rated, performance-based measures and four self-reported scales have been previously used in DMD. Each scale provides useful information but none reflects all the different levels of functional ability in activities of daily living observed in individuals with DMD at different ages.
Asunto(s)
Actividades Cotidianas/clasificación , Evaluación de la Discapacidad , Trastornos de la Destreza Motora/diagnóstico , Distrofia Muscular de Duchenne/diagnóstico , Trastornos Psicomotores/diagnóstico , Niño , Humanos , Trastornos de la Destreza Motora/rehabilitación , Distrofia Muscular de Duchenne/rehabilitación , Evaluación de Resultado en la Atención de Salud , Trastornos Psicomotores/rehabilitación , Reproducibilidad de los ResultadosRESUMEN
The group of idiopathic epilepsies encompasses numerous syndromes without known organic substrate. Genetic anomalies are thought to be responsible for pathogenesis, with a monogenic or polygenic model of inheritance. Over the last two decades, a number of genetic anomalies and encoded proteins have been related to particular idiopathic epilepsies and epileptic encephalopathies. Most of these mutations involve subunits of neuronal ion channels (e.g. potassium, sodium, and chloride channels), and may result in abnormal neuronal hyperexcitability manifesting with seizures. However non-ion channel proteins may also be affected. Correlations between genotype and phenotype are not easy to establish, since genetic and non-genetic factors are likely to play a role in determining the severity of clinical features. The growing number of discoveries on this topic are improving classification, prognosis and counseling of patients and families with these forms of epilepsy, and may lead to targeted therapeutic approaches in the near future. In this article the authors have reviewed the main genetic discoveries in the field of the monogenic idiopathic epilepsies and epileptic encephalopathies, in order to provide epileptologists with a concise and comprehensive summary of clinical and genetic features of these seizure disorders.
Asunto(s)
Encefalopatías/genética , Epilepsia/genética , Animales , Genotipo , Humanos , MutaciónRESUMEN
INTRODUCTION: The maldevelopment of the midline structures is connected with neurologic disorders. The cavum septum pellucidum (CSP) exists in the fetal period, then it is re-absorbed. The presence of unfused leaflets/fornices may be considered important in the genesis of neurodevelopmental abnormalities inclunding epilepsy. The limbic system includes a group of interconnected gray and white matter structures; in this circuit, the fornix is an important white matter connection with the septum pellucidum. METHODS: Five children, 3-10 years of age, with epilepsy and an unfused septum pellucidum and fornices on MRI, were evaluated by diffusion tensor imaging-fiber tracking (DTI-FT) in order to explore the integrity of the axonal microenviroment of these structures. RESULTS: The patients had generalized tonic-clonic seizures (GTCS). The electroencephalogram (EEG) showed focal-temporal abnormalities with secondary generalization. Magnetic resonance imaging (MRI) and DTI-FT demonstrated the CSP, and the presence of the fornix's body split into two bundles with the fornices separated. CONCLUSION: The fornix appears more involved than CSP alone, as suggested by fornix atrophy observed in MTLE. Even if epilepsy is suggested to be a grey matter disorder, changes in the underlying brain connectivity have an important contribution in seizure generation and diffusion. In addition, the interconnections of medial septal area with hyppocampus, amygdala and entorhinal cortex, have led to the hypothesis of functional limbic epilepsy. In our patients, the role of DTI was not conclusive since the definition of the number of unmyelinated fibers responsible for epilepsy could not be demonstrated probably for a limited number of seizures and for a short period of drug administration.
Asunto(s)
Epilepsia/etiología , Epilepsia/patología , Fórnix/anomalías , Tabique del Cerebro/anomalías , Niño , Preescolar , Imagen de Difusión Tensora , Electroencefalografía , Humanos , Imagen por Resonancia Magnética , Tabique Pelúcido/anomalíasRESUMEN
Neuronal migration disorders are an heterogeneous group of disorders of nervous system development and they are considered to be one of the most significant causes of neurological and developmental disabilities and epileptic seizures in childhood. In the last ten years, molecular biologic and genetic investigations have widely increased our knowledge about the regulation of neuronal migration during development. One of the most frequent disorders is lissencephaly. It is characterized by a paucity of normal gyri and sulci resulting in a "smooth brain". There are two pathologic subtypes: classical and cobblestone. Classical lissencephaly is caused by an arrest of neuronal migration whereas cobblestone lissencephaly caused by overmigration. Heterotopia is another important neuronal migration disorder. It is characterized by a cluster of disorganized neurons in abnormal locations and it is divided into three main groups: periventricular nodular heterotopia, subcortical heterotopia and marginal glioneural heterotopia. Polymicrogyria develops at the final stages of neuronal migration, in the earliest phases of cortical organization; bilateral frontoparietal form is characterized by bilateral, symmetric polymicrogyria in the frontoparietal regions. Bilateral perisylvian polymicrogyria causes a clinical syndrome which manifests itself in the form of mild mental retardation, epilepsy and pseudobulbar palsy. Schizencephaly is another important neuronal migration disorder whose clinical characteristics are extremely variable. This review reports the main clinical and pathophysiological aspects of these disorders paying particular attention to the recent advances in molecular genetics.