Pelvic organ prolapse is associated with alteration of sphingosine-1-phosphate/Rho-kinase signalling pathway in human vaginal wall.

Pelvic organ prolapse (POP) is a debilitating condition of unknown aetiology affecting > 50% of women over 40 years of age. In POP patients, the vaginal walls are weakened allowing descent of pelvic organs through the vagina. We sought to determine if sphingosine-1-phosphate (S1P) signalling, which regulates smooth muscle contractility and apoptosis via the RhoA/Rho-kinase (ROK) pathway, is altered in the vagina of women with POP. Utilising anterior vaginal wall specimens, we provide novel demonstration of the S1P pathway in this organ. Additionally, comparing specimens from women having pelvic reconstructive surgery for POP and control subjects, we reveal increases in mRNA expression of the three major mammalian S1P receptors (S1P1-S1P3), and RhoA and the ROK isoforms: ROKα and ROKß in POP patients, which correlates with a decrease in elastic fibre assembly pathway constituents. Taken together, our data suggest the S1P/ROK pathway as a novel area for future POP research and potential therapeutic development.

[Acute symptomatic epileptic seizures. A clinical-electroencephalographic etiological description and prognosis of an oncopediatric series]. / Crisis epilépticas sintomáticas agudas. Descripción clinicoelectroencefalográfica etiológica y pronóstico de una serie oncopediátrica.

AIM: To determine clinical, electroencephalographic, therapeutic and evolutive characteristics of a series of oncopediatric patients with acute symptomatic seizures. PATIENTS AND METHODS: We performed a retrospective and prospective descriptive analysis of clinical records of oncopediatric children evaluated by neurology at the comprehensive outpatient Center for Hemato-Oncological Patients during 2017-2021. We included children aged one month to 17 years with intracranial and extracranial tumors who presented with acute symptomatic seizure (ASC). We defined acute symptomatic seizure according to the 2010 International League Against Epilepsy. We classified seizures according to 2017 International League Against Epilepsy classification. We excluded any patient with a diagnosis of previous epilepsy and non-epileptic paroxysmal episodes. RESULTS: We analyzed 44 cases with a median of 4 years (range: 1 month-17 years) and mean of 5.75 months (range: 1 month-11 months) and 8.33 years (2-17 years). The main etiologies were neurotoxicity and post-surgical context. Four patients presented dysnatremias and two associated with endocranial hypertension. Forty-one electroencephalograms were performed with intercritical results with abnormalities in the baseline rhythm, but without foci or paroxysms. There were no critical recordings. Focal seizures were 25 (56.8%) and generalized seizures 19 (43.18%). Levetiracetam was the most commonly used drug for acute management. CONCLUSIONS: Our cohort shows that ASC, in this population, do not show considerable differences between focal motor and generalized seizures and occur mostly in neurotoxic and post-surgical contexts. Dysnatremias and endocranial hypertension associated with ASC were also recorded. Postcrisis electroencephalograms were without foci or paroxysms and good seizure evolution.

TITLE: Crisis epilépticas sintomáticas agudas. Descripción clinicoelectroencefalográfica etiológica y pronóstico de una serie oncopediátrica.Objetivo. Determinar las características clínicas, electroencefalográficas, terapéuticas y evolutivas de una serie de pacientes oncopediátricos con convulsiones sintomáticas agudas. Pacientes y métodos. Efectuamos un análisis descriptivo retrospectivo y prospectivo de registros clínicos de niños oncopediátricos evaluados por neurología en el Centro Ambulatorio Integral de Pacientes Hematooncológicos durante 2017-2021. Incluimos a niños de 1 mes a 17 años con tumores intracraneales y extracraneales que presentaron convulsiones sintomáticas agudas (CSA). Definimos convulsión sintomática aguda según la clasificación de la Liga Internacional contra la Epilepsia de 2010. Clasificamos las crisis epilépticas según la clasificación de la Liga Internacional contra la Epilepsia de 2017. Excluimos a todo paciente con diagnóstico de epilepsia previa y de episodios paroxísticos no epilépticos. Resultados. Analizamos 44 casos, con una mediana de 4 años (rango: 1 mes-17 años) y una media de 5,75 meses (rango: 1 mes-11 meses) y 8,33 años (2-17 años). Registramos como principales etiologías la neurotoxicidad y el contexto posquirúrgico, con cuatro pacientes asociados a disnatremias y dos a hipertensión endocraneana. Se realizaron 41 electroencefalogramas, con resultados intercríticos con anormalidades en el ritmo de base, pero sin focos ni paroxismos. No hubo registros críticos. Las convulsiones focales fueron 25 (56,8%), y las generalizadas, 19 (43,18%). El levetiracetam fue el fármaco más utilizado para el tratamiento agudo. Conclusiones. Nuestra cohorte muestra que las CSA, en esta población, no evidencian diferencias considerables entre convulsiones focales motoras y generalizadas, y ocurren mayormente en un contexto neurotóxico y posquirúrgico. También se registraron disnatremias e hipertensión endocraneana asociadas a CSA. Los electroencefalogramas poscrisis fueron sin focos o paroxismos y con evolución de las crisis.

Telemedicine- versus outpatient-based initiation and management of ketogenic diet therapy in children with drug-resistant epilepsy during the COVID-19 pandemic.

INTRODUCTION: Initiation of ketogenic diet therapies (KDT) for pediatric epilepsy is usually done on an inpatient basis and the diet is managed during clinical appointments following a protocol of visits and routine tests. Because of the 2019 coronavirus disease (COVID-19) pandemic and the associated lock-down measures, we switched from outpatient to telemedicine-based KDT initiation. OBJECTIVE: To explore the feasibility, effectiveness, and safety of online KDT initiation and follow-up by comparing a group of children with drug-resistant epilepsy that was managed by telemedicine compared to a group that was treated on an outpatient basis. MATERIALS AND METHODS: An observational study was conducted in two groups of patients with drug-resistant epilepsy who initiated KDT and were followed up with an online versus an outpatient modality by the interdisciplinary KDT team of Hospital Pediatria JP Garrahan in Buenos Aires, Argentina. Dietary compliance, ketosis, retention rate, adverse effects, number of contacts, and clinical outcome were evaluated at 1, 3, and 6 months on the diet. RESULTS: Overall, 37 patients were included, of whom 18 started the KD by telemedicine and 19 on an outpatient basis. Minimum follow-up of the patients was 6 months. All patients received the classic ketogenic diet. No statistical differences between the two groups regarding efficacy and safety of the diet were found. CONCLUSIONS: Our results support the feasibility and safety of initiating and management of KDT by telemedicine. Patients and their families should be carefully selected in order to guarantee a good outcome.

Tratamiento y evolución de la encefalitis inmunomediada en edad pediátrica, serie de casos / Treatment and outcome of immune-mediated encephalitis in children, a case series

Introducción: La encefalitis por anticuerpos contra el receptor N-metil.D.aspartato (NMDA-R) es un trastorno inflamatorio del sistema nervioso central (SNC) en el cual autoanticuerpos dirigidos hacia la subunidad NR1 del receptor N-metil-D aspartato (NMDA) desarrollan un conjunto de síntomas neuropsiquiátricos, convulsiones y movimientos anormales. El tratamiento recomendado incluye metilprednisolona (MP) y gamaglobulina (IVIg), y/o recambio plasmático terapéutico (RPT); y en caso de no respuesta: rituximab (RTX) y/o ciclofosfamida (CFM). Objetivos: Analizar características clínicas, bioquímicas, electroencefalograma (EEG), resonancia magnética (RM) cerebral, tratamientos recibidos y resultados observados en una serie de pacientes con encefalitis autoinmune (EA) probable o confirmada. Materiales y métodos: Analizamos las historias clínicas de pacientes menores a 17 años que cumplían criterios diagnósticos de Graus (2016) para EA probable, con seguimiento mayor a 6 meses, internados en el Hospital Garrahan entre 2008 y 2023. El diagnóstico se definió por la identificación de anticuerpos anti-NMDAR (N-metil D-aspartato) en líquido cefalorraquídeo (LCR) por ensayo basado en células - cell bassed assay (CBA). Resultados: Reunieron criterios de EA probable 94 pacientes con una edad media de 89.5 meses, 51% mujeres. Se dividieron en dos grupos: seropositivos y seronegativos de acuerdo al resultado del biomarcador. Seropositivos 45/94. El síntoma inicial más frecuente fue: convulsiones. El 28% requirió ingreso a Unidad de Cuidados Intensivos (UCI). 4 pacientes seropositivos y 1 seronegativo tuvieron encefalitis por el virus del herpes simple (Om) previamente. En una paciente seronegativa se diagnosticó teratoma ovárico. Hallazgos de estudios complementarios: LCR patológico en el 29%, RM cerebral en el 52%, EEG en el 74%. El tratamiento de primera línea más empleado fue MP + IVIg. El 46% de los pacientes presentó recuperación completa. Entre los pacientes que recibieron RTX, el 65% tuvo una recuperación completa. Ningún paciente que recibió RTX presentó recaída. Conclusión: Ante la sospecha de EA se debe considerar el inicio temprano de inmunoterapia para favorecer la rápida recuperación funcional. Se recomienda el uso temprano de RTX en los casos con presentación grave o respuesta subóptima al tratamiento de primera línea para beneficiar la respuesta clínica y reducir el riesgo de recaída (AU)

Introduction: Encephalitis due to antibodies against the N-methyl-D-aspartate receptor (NMDA-R) is an inflammatory disorder of the central nervous system (CNS) in which autoantibodies directed against the NR1 subunit of the N-methyl-D-aspartate (NMDA) receptor develop a set of neuropsychiatric symptoms, seizures, and abnormal movements. The recommended treatment includes methylprednisolone (MP) and intravenous immunoglobulin (IVIg), and/or therapeutic plasma exchange (TPE); and in case of non-response: rituximab (RTX) and/or cyclophosphamide (CFM). Objectives: To analyze clinical, biochemical, electroencephalogram (EEG), magnetic resonance imaging (MRI) of the brain, treatments received, and outcomes observed in a series of patients with probable or confirmed autoimmune encephalitis (AE). Materials and methods: We analyzed the medical records of patients under 17 years of age who met Graus' diagnostic criteria (2016) for probable AE, with follow-up of more than 6 months, hospitalized at Hospital Garrahan between 2008 and 2023. Diagnosis was defined by the identification of anti-NMDAR antibodies (N-methyl D-aspartate) in cerebrospinal fluid (CSF) by cell-based assay (CBA). Results: Ninety-four patients met criteria for probable AE with a mean age of 89.5 months, 51% female. They were divided into two groups: seropositive and seronegative according to the biomarker result. Seropositive 45/94. The most frequent initial symptom was seizures. Twenty-eight percent required admission to the Intensive Care Unit (ICU). Four seropositive patients and one seronegative patient had previously had herpes simplex encephalitis (Om). Ovarian teratoma was diagnosed in one seronegative patient. Findings of complementary studies: Pathological CSF in 29%, brain MRI in 52%, EEG in 74%. The most commonly used first-line treatment was MP + IVIg. Forty-six percent of patients experienced complete recovery. Among patients who received RTX, 65% had complete recovery. No patient who received RTX experienced relapse. Conclusion: In the suspicion of AE, early initiation of immunotherapy should be considered to promote rapid functional recovery. Early use of RTX is recommended in cases with severe presentation or suboptimal response to first-line treatment to benefit clinical response and reduce the risk of relapse (AU)

Ecological level analysis of the relationship between smoking and residential-fire mortality.

OBJECTIVES: To examine the association between tobacco smoking and residential-fire mortality and to investigate whether this association is explained by the confounding effects of selected socioeconomic factors (ie, educational attainment and median household income). DESIGN: An ecological analysis relating state-level residential-fire mortality to state-level percentages of adults who smoke was conducted. Negative binomial rate regression was used to model this relationship, simultaneously controlling for the selected socioeconomic factors. RESULTS: After educational attainment and median household income had been controlled for, smoking percentages among adults correlated significantly with state-level, population-based residential-fire mortality (estimated relative rate for a 1% decrease in smoking = 0.93; 95% CI 0.89 to 0.97). CONCLUSIONS: Mortality from residential fires is high in states with high smoking rates. This relationship cannot be explained solely by the socioeconomic factors examined in this study.

[Update on the adverse effects during therapy with a ketogenic diet in paediatric refractory epilepsy]. / Actualizacion sobre los efectos adversos durante la terapia con dieta cetogenica en la epilepsia refractaria pediatrica.

INTRODUCTION: The ketogenic diet is a non-pharmacological treatment that has been used as a therapeutic alternative for the management of refractory epilepsy since 1921. It is a diet, high in fats and low in carbohydrates, which is used to treat paediatric refractory epilepsy, and is effective in around 50% of the patients that begin to follow it. It is a nutrition plan that is imbalanced in terms of both macro- and micro-nutrients, which can give rise to nutritional deficits in energy, proteins, minerals and vitamins, as well as an excess of lipids. There is therefore a risk of it causing undesirable side effects both at the outset and in later stages of the treatment. DEVELOPMENT: The most frequent adverse effects that may occur either in acute form or in later stages are described, and tools that can be used in their management and prevention during treatment are proposed for paediatricians and ketogenic diet teams. CONCLUSIONS: Some adverse effects are difficult to interpret and may manifest due to involvement at different levels of the organism, thereby arousing doubts as to whether they are caused by the diet, the antiepileptic medication or by the patient's own intercurrent complications. It is important to follow the study and evaluation frequency protocol in order to detect and prevent these effects, as well as to consult reference centres in order to evaluate the cost-benefit of continuing the treatment or not.

TITLE: Actualizacion sobre los efectos adversos durante la terapia con dieta cetogenica en la epilepsia refractaria pediatrica.Introduccion. La dieta cetogenica es una terapia no farmacologica que se ha usado como alternativa para el tratamiento de la epilepsia refractaria desde 1921. Es una dieta alta en grasas y baja en hidratos de carbono, que se utiliza en el tratamiento de la epilepsia refractaria pediatrica, efectiva en alrededor del 50% de los pacientes que la inician. Se trata de un plan alimentario desequilibrado tanto en macro como en micronutrientes, que puede causar deficits nutricionales en energia, proteinas, minerales y vitaminas, y exceso de lipidos, con riesgo de ocasionar efectos secundarios no deseados tanto en el inicio del tratamiento como de forma tardia. Desarrollo. Se describen los efectos adversos mas frecuentes que se presentan en forma aguda o tardiamente, y se brindan herramientas para su manejo y prevencion durante el tratamiento para pediatras y equipos de dieta cetogenica. Conclusiones. Algunos efectos adversos son de dificil interpretacion, y pueden ser manifestacion por afectacion a diferentes niveles del organismo, poniendo en duda si son secundarios a la dieta, a la medicacion antiepileptica o a intercurrencias del propio paciente. Es importante seguir el protocolo de frecuencia de estudios y evaluaciones para detectar y prevenir estos efectos, y consultar a centros de referencia evaluando el coste-beneficio de continuar o no el tratamiento.

Uso del cannabis medicinal en niños con encefalopatías epilépticas farmacorresistentes. Experiencia en Hospital Garrahan / Use of medicinal cannabis in children with drug-resistant epileptic encephalopathies. Experience at Garrahan Hospital

Objetivo: Reportamos resultados sobre la efectividad, seguridad y tolerancia del cannabidiol como adyuvante terapéutico en pacientes pediátricos con encefalopatías epilépticas del desarrollo (EED) resistentes al tratamiento farmacológico y no farmacológico tras un seguimiento promedio de 20 meses. Métodos: Se realizó un estudio de cohorte prospectivo para evaluar la eficacia, la seguridad y la tolerancia del aceite de cannabis medicinal enriquecido con CBD añadido a los medicamentos anticonvulsivos estándar en niños con EED resistentes a los medicamentos atendidos en un único centro. Resultados: Entre octubre de 2018 y marzo de 2020, se incluyeron 59 pacientes. La edad media en el momento del inicio del protocolo fue de 10,5 años (rango, 2-17 años). La mediana de la duración del tratamiento fue de 20 meses (rango, 12-32). La mediana de edad en el momento de la primera convulsión fue de 8 meses (rango, 1 día - 10 años). Al final del seguimiento, el 78% de los niños tenía una disminución ≥ 50% en frecuencia de las crisis y el 47,5% tenía una disminución > 75%. Siete pacientes (11,9%) estaban libres de convulsiones. El número de crisis se redujo de una mediana de 305/mes a 90/mes, que supone una reducción media del 57% y una mediana del 71% (p < 0,0001). Los efectos adversos fueron en su mayoría leves o moderados. El CBD se interrumpió en 17 pacientes (28,8%) por falta de respuesta al tratamiento, aumento de la frecuencia de las convulsiones, intolerancia al fármaco o cumplimiento terapéutico insuficiente. Conclusión: En los niños con EED resistentes a los fármacos, el tratamiento a largo plazo del cannabis medicinal enriquecido con CBD como terapia adyuvante resultó ser seguro, bien tolerado y eficaz. Las reducciones sostenidas en la frecuencia de las convulsiones y la mejora de los aspectos de la vida diaria se observaron en comparación con nuestros preliminares (AU)

Objective: We report results on the effectiveness, safety, and tolerance of cannabidiol (CBD) as add-on therapy in children with developmental and epileptic encephalopathies (DEE) resistant to pharmacological and non-pharmacological treatment after a mean follow-up of 20 months. Methods: A prospective cohort study was conducted to evaluate the efficacy, safety, and tolerability of CBD-enriched medical cannabis oil added to standard antiseizure medications in children with drug-resistant DEEs seen at a single center. Results: Between October 2018 and March 2020, 59 patients were included. The median age at protocol initiation was 10.5 years (range, 2-17 years). Median treatment duration was 20 months (range, 12-32). The median age at the time of the first seizure was 8 months (range, 1 day - 10 years). At the end of follow-up, 78% of the children had a decrease ≥ 50% in seizure frequency and 47.5% had a decrease of > 75%. Seven patients (11.9%) were seizure free. The number of seizures was reduced from a median of 305/month to 90/month, accounting for a mean reduction of 57% and a median of 71% (p < 0.0001). Adverse effects were mostly mild or moderate. CBD was discontinued in 17 patients (28.8%) due to lack of response to treatment, increased seizure frequency, drug intolerance, or poor compliance. Conclusion: In children with drug-resistant DEE, long-term treatment with CBD-enriched medicinal cannabis as add-on therapy proved to be safe, well tolerated, and effective. Sustained reductions in seizure frequency and improvement in aspects of daily living were observed compared to our preliminary results (AU)

[Vagus nerve stimulation: treatment of 158 pediatric patients with a long-term follow-up]. / Estimulador del nervio vago: tratamiento en 158 pacientes pediatricos con un largo seguimiento.

AIM: To describe a series of patients with drug resistant epilepsy treated with vagus nerve stimulation in a national pediatric hospital, evaluating efficacy, safety and tolerability. PATIENTS AND METHODS: A retrospective analysis of 158 pediatric patients with epilepsy resistant to pharmacological and non pharmacological treatment including surgery that were treated with vagus nerve stimulation between 2001-2015. Patients with progressive encephalopathies, and congenital heart disease were excluded. RESULTS: 158 patients (80 male) were included, with a mean age at implantation of 11.4 years and a mean age at evolution of epilepsy of 9.5 years. Time of follow-up: 1-15 years (median: 6.9 years). Patient's age at this time: 2-31 years (median: 14.1 years). Effectiveness: 66.5% of patients showed more or equal at 50% of seizure control at 24 months of implant. Just three patients showed severe side effects (1.8%). Minor side effects were seen in 26 patients (16.4%). Without side effects: 129 (81.8%). CONCLUSION: Vagus nerve stimulation is an effective, tolerable and safe therapy in our pediatric series with refractory epilepsy.

TITLE: Estimulador del nervio vago: tratamiento en 158 pacientes pediatricos con un largo seguimiento.Objetivo. Describir una poblacion pediatrica de pacientes con epilepsia farmacorresistente tratada con estimulador del nervio vago en un hospital nacional de pediatria, evaluando la eficacia, la tolerabilidad y la seguridad del tratamiento. Pacientes y metodos. Se realizo un analisis retrospectivo de 158 pacientes pediatricos seguidos por epilepsia refractaria al tratamiento farmacologico y no farmacologico, incluida la cirugia, que fueron tratados con estimulador del nervio vago entre los años 2001 y 2015. Se excluyeron pacientes con encefalopatias evolutivas y cardiopatias congenitas. Resultados. Se incluyeron 158 pacientes (80 varones) con una edad media de implante de 11,4 años y un tiempo de evolucion de epilepsia preimplante de 9,5 años. El tiempo de seguimiento fue de 1-15 años (mediana: 6,9 años); la edad actual de los pacientes, 2-31 años (mediana: 14,1 años). A los 24 meses postimplante, un 66,5% de los pacientes presento una mejoria mayor o igual al 50% de las crisis previas. Solo tres pacientes (1,8%) presentaron efectos adversos graves, 26 (16,4%) mostraron efectos adversos menores y 129 (81,8%) no mostraron efectos adversos al tratamiento. Conclusion. La terapia con estimulador del nervio vago en esta serie pediatrica con epilepsia refractaria fue eficaz, bien tolerada y segura.

New tobacco products: do smokers like them?

BACKGROUND: There is little information about smokers who tried potentially reduced exposure products (PREPs) (Eclipse, Omni, Advance Lights, Accord, or Ariva), why they tried them, if they liked these products, and if they will continue to use them. OBJECTIVES: The objectives of this qualitative study were to understand: (1) how smokers who tried PREPs learned about them, (2) reasons for first trying PREPs, (3) which PREP(s) they tried, (4) what they thought of the product at first trial, (5) reasons for continuing or discontinuing use, and (6) whether they would recommend PREPs to others. DESIGN: In October 2002, 16 focus group sessions were conducted with current cigarette smokers aged 30-50 years: eight groups in Chattanooga, Tennessee, and eight in Dallas, Texas. Specific focus groups were composed of white men, white women, African American men, African American women, Hispanic men, or Hispanic women. RESULTS: The majority of the participants learned about PREPs through advertising or promotion, family, friends, and co-workers; major reasons given for first trying PREPs were that the products were free or inexpensive, they wanted to stop smoking, they believed the product claims of fewer health risks, or they were curious; most of them tried Eclipse probably because the focus groups were conducted in the same cities where Eclipse was introduced; most participants did not like PREPs; most discontinued the use of PREPS, some who continued to use them did so infrequently and also kept smoking their regular brands of cigarettes; and most would not recommend PREPs, although a few might recommend them to specific groups (for example, new smokers, the young, women, curious or health conscious people). CONCLUSIONS: Although most established smokers did not like the PREPs they tried and will not recommend them to anyone, a minority of established smokers believe that there may be a market for these products.

[Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis]. / Lipofuscinosis neuronal ceroidea infantil tardía: aspectos clínicos y electroencefalográficos.

AIMS: In this paper we describe the clinical characteristics, and particularly the epileptic seizures and electroencephalographic findings, in 15 patients with a pathology diagnosis of late infantile neuronal ceroid lipofuscinosis (NCL). PATIENTS AND METHODS: Nine female and six male patients were studied and their clinical records covering the period February 1990 to June 2003 were analysed. Neuroimaging, neurometabolic studies, ERG, PE and repeated EEG were carried out in all cases. RESULTS: The mean age on onset of the disease was 3 years (range: 1-5 years). The initial symptom was epilepsy in all cases. Massive myoclonias and myoclonic-atonic seizures were the most frequent kinds of attacks. Focal myoclonias were observed in six patients. Other types of epileptic seizures observed included generalised tonic-clonic, absence, motor focal and complex focal. The epileptic seizures were resistant to therapy. Progressive neurological and visual impairment, pyramidal and cerebellar signs, as well as mental retardation were present in all cases. Intercritical EEG recordings showed diffuse paroxysms with spike and polyspike waves, multifocal spikes and, less often, focal spikes that were predominant in posterior regions. Photostimulation showed high amplitude (300-450) occipital spikes during the application of light stimulation between 1 and 8 Hz. ERG, VEP and SSEP results were pathological. Images showed signs of brain and cerebellar atrophy. Seven of the patients died between 8.5 and 11 years of age. CONCLUSIONS: Late infantile NCL must be considered in the case of a child aged between 1 and 5 years who presents seizures that are predominantly generalised myoclonias and myoclonic-atonic, in association with progressive neurological deterioration including pyramidal, cerebellar and visual signs and an EEG trace showing occipital paroxysms triggered by low frequency photostimulation.

Panayiotopoulos-type benign childhood occipital epilepsy: a prospective study.

OBJECTIVE: To characterize the clinical and EEG features of the syndrome of benign childhood partial seizures with ictal vomiting and EEG occipital spikes (Panayiotopoulos syndrome [PS]). METHODS: Prospective study of children with normal general and neurologic examinations who had seizures with ictal vomiting and EEG with occipital spikes. RESULTS: From February 1990 to 1997, the authors found 66 patients with PS and 145 children with benign childhood epilepsy with centrotemporal spikes. Peak age at onset of PS was 5 years. Ictal deviation of the eyes and progression to generalized seizures were common. One-third had partial status epilepticus. During sleep, all had seizures. While awake, one-third also had seizures. Five children with PS had concurrent symptoms of rolandic epilepsy and another five developed rolandic seizures after remission of PS. Prognosis was excellent: one-third had a single seizure, one-half had two to five seizures, and only 4.5% had frequent seizures. CONCLUSIONS: Panayiotopoulos-type benign childhood occipital epilepsy is less common than benign childhood epilepsy with centrotemporal spikes but is well defined and recognizable by clinical and EEG features.

Predictors of cotinine levels in US children: data from the Third National Health and Nutrition Examination Survey.

STUDY OBJECTIVE: To determine what factors predict cotinine levels in US children. DESIGN: Cross-sectional study. SUBJECTS: Nationally representative sample of 5,653 US children, both with and without reported tobacco smoke exposure in their homes. METHODS: We stratified the children into those with reported passive smoke exposure at home and those without this exposure. We used regression models to predict the log of the cotinine level of the participants with the following independent covariates: age; race/ethnicity; number of rooms in the home; sex; parental education; family poverty index; family size; region; and, among children with reported passive smoke exposure, the number of cigarettes smoked in the home. RESULTS: Children exposed to passive smoke had a mean cotinine level of 1.66 ng/mL, and children not exposed to passive smoke had a mean level of 0.31 ng/mL. Among children with reported smoke exposure, non-Mexican-American race/ethnicity, young age, low number of rooms in the home, low parental education, and an increasing number of cigarettes smoked in the home were predictors of increased serum cotinine levels. Among children with no reported smoke exposure, significant predictors of increased cotinine levels included black race, young age, Midwest region of the United States, low number of rooms in the home, low parental education, large family size, and low family poverty index. CONCLUSION: While the reported number of cigarettes smoked in the home is the most important predictor of cotinine levels in children exposed to smoke and may provide an opportunity for clinical intervention, other demographic factors are important among children both with and without reported smoke exposure.

Vigabatrin as a first-choice drug in the treatment of West syndrome.

This is a prospective study designed to evaluate the efficacy and safety of vigabatrin as first-choice monotherapy in infants with West syndrome. One hundred sixteen patients with newly diagnosed West syndrome were studied in Argentina, from June 1994 to April 1998. The follow-up ranged from 17 to 40 months (mean, 23 months). Vigabatrin was administered upon diagnosis, starting with a 50-mg/kg/day dose and increasing 50 mg/kg every 48 hours to reach a maximum dose of 200 mg/kg/day. Twenty-nine percent of cases were considered to be cryptogenic or idiopathic West syndrome, while 70.7% were symptomatic. Response to vigabatrin treatment was measured according to five categories: (1) seizures free: 61.8% of cases for cryptogenic and 29.3% for symptomatic West syndrome, (2) more than 75% reduction in the number of infantile spasms: 14.7% for cryptogenic and 26.8% for symptomatic West syndrome, (3) from 50% to 74% reduction in the number of infantile spasms: 11.8% for cryptogenic and 24.4% for symptomatic West syndrome, (4) poor or null response: 11.8% for cryptogenic and 18.3% for symptomatic West syndrome, and (5) increase in the number of infantile spasms: one symptomatic case (1.2%). All seizure-free cryptogenic cases showed normal neuropsychic development. The most effective dose of vigabatrin was 150 mg/kg of body weight per day. The most frequent adverse events were somnolence in 19 cases and irritability in 15 cases, but none required treatment interruption.

Focal polymicrogyria in mother and son.

This 9-year-old boy was admitted at the age of 2 with a diagnosis of congenital hemiparesis while the rest of physical and neurological examination was normal. His score in the Wechsler intelligence scale was 80. Right fronto-parietal cortical dysplasia with hemisphere atrophy was evident by computerized tomography scanning and magnetic resonance imaging. The latter, also disclosed abnormal thick cortex which was interpreted as polymicrogyria or pachygyria. Karyotype was normal. He had a hemifacial motor seizure at the age of 7. At the age of 8 frequent atonic or inhibitory seizures were presented. Asymmetric bilateral spike discharges with high voltage in the right hemisphere during the EEG recording were found. His mother, a 35-year-old woman (Full scale; Adult intelligence scale: 85) also had congenital hemiparesis. She never had seizures and her EEG was normal. Magnetic resonance imaging disclosed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy. Karyotype was normal. Our cases should be interpreted as a familial presentation of the anomaly, probably with autosomal-dominant transmission.

Intracranial tumors and West syndrome.

Two infants, 6 and 7 months of age, are reported with both West syndrome and cerebral tumors. In both patients, initial neurologic examinations were normal and tumor diagnoses were determined through routine imaging studies. Initial response to adrenocorticotrophic hormone treatment did not differ from that observed in patients with cryptogenic West syndrome. Early treatment of West syndrome and resection of tumor, when possible, may offer successful treatment of patients with both benign brain tumors and West syndrome.

Acquired epileptic aphasia: neuropsychologic follow-up of 12 patients.

A study of specific neuropsychologic, neurolinguistic, and behavioral features of acquired epileptic aphasia or Landau-Kleffner syndrome was conducted in a group of 12 patients followed-up for 2-15 years (mean: 8 yr). Seventy-five percent had exhibited some language disturbance prior to acquired epileptic aphasia. Even when 9 patients had normal electroencephalographic findings in the long-term course of the disease, only 3 achieved normal language. No patient with persisting electroencephalographic abnormalities recovered normal or near normal language. The need to perform detailed neurolinguistic and neuropsychologic evaluations in the work-up and follow-up of children with acquired epileptic aphasia is stressed. An adapted neuropsychologic profile battery proved to be practical and objective for the follow-up of these patients.

Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response.

We present a patient with a complete Coffin-Lowry syndrome, associated with drop episodes precipitated by sudden auditory stimuli, which provoked in turn, a definite loss of muscle tone in both legs. Electrophysiological studies showed that these episodes are an unusual type of startle response and that they may be associated with Coffin-Lowry syndrome.

Atypical evolution in childhood epilepsy with occipital paroxysms (Panayiotopoulos type).

We report, on two, school-age girls with clinical and electroencephalographic features of early onset childhood epilepsy with occipital paroxysms (CEOP) of the "Panayiotopoulos type" that showed atypical evolution. Neurological examination and brain imaging were normal in both. One child presented at age 2.5 years episodes of oculocephalic deviation, and ictal vomiting during nocturnal sleep. The EEG showed left occipital spikes during wakefulness and sleep. One year later, frequent inhibitory seizures appeared in the lower limbs causing, "pseudoataxic gait". At the same time she presented with behavioral disturbances and aphasia. EEG showed bilateral spike-waves while awake and continuous spike-waves during slow sleep (CSWSS). After switching AEDs to benzodiazepines, control of seizures along with improvement of behavior, and partial restoration of cognitive functions were achieved. The CSWSS disappeared and the last EEG at age 8 years only showed only isolated right occipital spikes. The other girl had a personal and familial history of febrile seizures. At 4 years of age she presented the first non-febrile seizures during sleep, with oculocephalic deviation and ictal vomiting, followed by a generalized tonic-clonic seizure. Partial control of seizures was obtained with antiepileptic drugs. At age 7, the child began to have weekly episodes of oculocephalic version, occasionally with secondary generalization. Repeated inhibitory seizures and absences also appeared. EEG showed frequent bilateral spikes occupying predominantly the posterior regions while awake, and CSWSS. At 7.5 years the same electro-clinical picture persisted. Ethosuximide was added to sodium valproate and clobazam. Fifteen days later, the seizures disappeared and the EEG showed less frequent bilateral occipital spikes. She is now 9 years old and she has been seizure-free for 18 months. Her present neuropsychological profile shows mild mental retardation. The two children with typical electroclinical features of "Panayiotopoulos Type" CEOP developed an atypical evolution which, to our knowledge, has not been described previously.

[Epilepsies during the first year of life]. / Epilepsias en el primer año de vida.

OBJECTIVE: An important number of epileptic patients who began with epileptic seizures during the first year of life have not just been well classified. The objective is to identify the different types of epilepsies and epileptic seizures which begin during the first year of life, according to the last classification of epilepsy and epileptic syndromes of 1989. MATERIAL AND METHODS: We have studied 471 patients who consulted to our service in the last 5 years, with epileptic seizures during the first year of life. We excluded neonatal seizures and febrile convulsions. RESULTS: 1. Partial epilepsy: a) idiopathic: 12 (2.5%); b) symptomatic: 130 (28%); c) cryptogenic: 25 (5%). 2. Generalized epilepsy: a) idiopathic: benign myoclonic epilepsy in infancy, 6 (1%); b) cryptogenic-symptomatic: symptomatic West syndrome, 155 (33%); cryptogenic West syndrome, 65 (14%); cryptogenic myoclonic epilepsy, 6 (1%); early infantile epileptic encephalopathy, 8 (1.6%); early myoclonic encephalopathy, 4 (0.8%); other symptomatic generalized epilepsies without specific aetiology, 14 (3%). 3. Epilepsies and syndromes undetermined as to whether they are focal or generalized: a) severe myoclonic epilepsy in infancy, 15 (3%); symptomatic epilepsy with multifocal and independent spikes, 3 (0.6%); other undetermined epilepsies not defined above, 3 (0.6%). 4. Special syndromes: occasional convulsions, 15 (3%). CONCLUSIONS: West syndrome is the commonest type of epilepsy during the first year of life, particularly symptomatic West syndrome. Symptomatic partial epilepsies are in the second place in frequency. We identified 12 patients with idiopathic partial epilepsy, who full-filled clinical and EEG characteristics of a recently described epilepsy: benign infantile familial convulsions. The study showed the predominance of symptomatic epilepsy, generalized (represented by West syndrome) and partials. Finally 6% of the patients have a generalized epilepsy, cryptogenic or symptomatic, not defined in the classification.

[Benign infantile familial convulsions]. / Convulsiones familiares benignas de la infancia.

INTRODUCTION: Benign Infantile Familial Convulsions (HBIFC), are characterized by brief partials seizures, occasionally with secondary generalization, with onset in the first year of life, family history of similar electroclinical seizures and same age of appearance. MATERIAL AND METHODS: We presented 16 patients, 10 girls and 6 boys, evaluated in our Service between 1990-1996. We analyzed, age of onset of the seizures, sex, family history of epilepsy, neurologic exam, semiology, distribution, frequency and duration of the seizures, EEG, neuroradiologic studies and evolution. RESULTS: The patients had partial seizures, which occurred mainly in clusters, with onset ranged from 3 to 8 months, with normal neurological exam and psychomotor development. The interictal EEG was normal and the course was benign. Treatment response to antiepileptic drugs was good. CONCLUSIONS: Our presentation confirmed that BIFC are a new partial idiopathic epileptic syndrome, with a genetic predisposition, probably with an autosomal dominant inheritance, which would be recognize in the next international classification of epilepsy and epileptic syndromes.