Higher evening antiepileptic drug dose for nocturnal and early-morning seizures

We describe 17 children with nocturnal or early-morning seizures who were switched to a proportionally higher evening dose of antiepileptic drugs and were retrospectively reviewed for seizure outcome and side effects. Of 10 children with unknown etiology, clinical presentation was consistent with nocturnal frontal lobe epilepsy (NFLE) in 5 and benign epilepsy with centrotemporal spikes (BECTS) in 3. After a mean follow-up of 5.3 months, 15 patients were classified as responders: 11 of these became seizure free (5 NFLE, 1 BECTS, 5 with structural lesions) and 4 (2 BECTS, 2 with structural lesions) experienced 75-90% reductions in seizures. Among two nonresponders, seizures in one had failed to resolve with epilepsy surgery. Nine subjects (53%) received monotherapy after dose modification, and none presented with worsening of seizures. Two complained of transient side effects (fatigue/somnolence). Differential dosing led to seizure freedom in 64.7% (11/17) of patients, and 88.2% (15/17) experienced >= 50% reductions in seizures. (C) 2010 Elsevier Inc. All rights reserved.

UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson`s Disease

Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher`s disease, among patients with Parkinson`s disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson`s disease. Methods Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson`s disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel-Haenszel procedure used to estimate odds ratios across centers. Results All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non-Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non-Ashkenazi Jewish patients, and mutations were identified in 7%, showing that limited mutation screening can miss half the mutant alleles. The odds ratio for any GBA mutation in patients versus controls was 5.43 across centers. As compared with patients who did not carry a GBA mutation, those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were more likely to have atypical clinical manifestations. Conclusions Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson`s disease.

Immunocytochemical characterization of the pregeniculate nucleus and distribution of retinal and neuropeptide Y terminals in the suprachiasmatic nucleus of the Cebus monkey

Circadian rhythms generated by the suprachiasmatic nucleus (SCN) are modulated by photic and non-photic stimuli. In rodents, direct photic stimuli reach the SCN mainly through the retinohypothalamic tract (RHT), whereas indirect photic stimuli are mainly conveyed by the geniculohypothalamic tract (GHT). In rodents, retinal cells form a pathway that reaches the intergeniculate leaflet (IGL) where they establish synapses with neurons that express neuropeptide Y (NPY), hence forming the GHT projecting to the SCN. In contrast to the RHT, which has been well described in primates, data regarding the presence or absence of the IGL and GHT in primates are contradictory. Some studies have suggested that an area of the pregeniculate nucleus (PGN) of primates might be homologous to the IGL of rodents, but additional anatomical and functional studies on primate species are necessary to confirm this hypothesis. Therefore, this study investigated the main histochemical characteristics of the PGN and the possible existence of the GHT in the SCN of the primate Cebus, comparing the distribution of NPY immunoreactivity, serotonin (5-HT) immunoreactivity and retinal terminal fibers in these two structures. The results show that a collection of cell bodies containing NPY and serotonergic immunoreactivity and retinal innervations are present within a zone that might be homologous to the IGL of rodents. The SCN also receives dense retinal innervations and we observed an atypical distribution of NPY- and 5-HT-immunoreactive fibers without regionalization in the ventral part of the nucleus as described for other species. These data may reflect morphological differences in the structures involved in the regulation of circadian rhythms among species and support the hypothesis that the GHT is present in some higher primates (diurnal animals). (C) 2009 Elsevier B.V. All rights reserved.

Clinical significance of lifetime panic disorder in the course of bipolar disorder type I

Objectives: The aim of the study was to analyze the impact of lifetime panic disorder (PD) diagnosis in a sample of patients with bipolar disorder type I (BPI), evaluating clinical and demographic variables. Methods: Ninety-five outpatients from the Bipolar Disorder Research Program at the Institute of Psychiatry of the University of Sao Paulo Medical School were enrolled. Twenty-seven BPI patients with PD were compared to 68 BPI patients without any anxiety disorders regarding clinical and demographic variables. Results: Compared to BPI patients without any anxiety disorders, patients with BPI + PD presented significantly higher number of mood episodes (18.9 +/- 13.8 vs 8.5 +/- 7.8; P < .001), depressive episodes (10.8 +/- 8.2 vs 4.6 +/- 4,8; P = .001), and manic episodes (7.4 +/- 7.3 vs 3.6 +/- 3.6; P = .008). Patients with BPI + PD had more frequently a depressive episode as their first one compared to BPI patients without anxiety disorders (94.1% vs 57.5%; P = .011). Patients with BPI + PD had more comorbidity with lifetime diagnosis of drug abuse or dependence (33.3% vs 8.8%; P = .010) and eating disorders (29.6% vs 6.0%; P = .004). Conclusions: The higher number of mood episodes in general presented by patients with BPI + PD when compared with BPI patients without any anxiety disorders, along with the higher frequencies of drug misuse and eating disorders, indicates that PD comorbidity is associated with a poorer Course and outcome of BPI. The higher frequency of depression as the onset mood episode and the higher number of manic episodes in the group with PD may have important treatment implications and should be further investigated. (C) 2009 Elsevier Inc. All rights reserved.

Entre ecos e narcisos: estudo de caso sobre a prática teatral com adolescentes como atividade extracurricular numa escola de nível médio

This masters thesis discusses the studying and the teaching of drama and its implications among teenagers of the contemporary world. This paper also analyses an extracurricular project entitled Drama in the development of citizenship , which was carried out in the public state school Berilo Wanderley in Natal/RN, between 1999 and 2005 with high school students. It comprises a case study that aimed at understanding how and why they chose to take drama classes outside of the school curriculum and even after they graduated, some of them never left the school project and even started participating in the cultural and artistic context of the city of Natal quite actively, both as part of an audience as well as on artistic, political, social and pedagogical performance. The project was high significant for its participants, for the school and for the community, by creating a sense of recognition of the relevance of the pedagogical and artistic production in the public school, as it managed to yield knowledge that helped students to understand the values of group work, sharing information, collaborative assessment and, most of all, to engender actions of protagonism by the teenagers themselves within their social environments. The empirical process developed is placed in a contemporary historical context where educational paradigms shifts occur, and where categories of youth empowerment and protagonism are fundamental to the educational process in the 21st century. The objective of this study is to reflect upon the pedagogical dimension of drama classes for teenagers, aiming at providing further discussions on the role of acting classes in the construction of the personality among youngsters, thus hoping to contribute to other teaching practices, including drama and other subjects of general education

Frequência de retinopatia da prematuridade em recém-nascidos no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo

OBJETIVOS: Determinar a frequência de retinopatia da prematuridade no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto (HCFMRP-USP) e verificar a associação da retinopatia da prematuridade com fatores de risco conhecidos. MÉTODOS: Foi realizada análise prospectiva de 70 pacientes, nascidos no HCFMRP-USP, com peso inferior a 1.500 gramas, no período de um ano. Os pacientes foram divididos em dois grupos (Retinopatia da prematuridade e Normal) para realização de análise estatística com relação a fatores de risco conhecidos. Adotou-se nível de significância de 5%. RESULTADOS: A frequência de retinopatia da prematuridade foi de 35,71% entre os pré-termos estudados. Os fatores pesquisados que apresentaram relação de risco para o desenvolvimento da doença foram: peso (p=0,001), idade gestacional (p=0,001), escore SNAPPE II (p=0,008), uso de oxigenoterapia por intubação (p=0,019) e por pressão positiva de vias aéreas (p=0,0017), múltiplas transfusões sanguíneas (p=0,01) e uso de diuréticos (p=0,01). CONCLUSÃO: A frequência de retinopatia da prematuridade foi de 35,71% entre os prétermos nascidos com menos de 1.500 g. Vários fatores de risco foram identificados nos recém-nascidos do HCFMRP-USP, sendo constatado que crianças mais pré-termos apresentam formas mais graves de retinopatia da prematuridade.

A coordenação pedagógica e o processo de inclusão do aluno com necessidade educacionais especiais:Um estudo de caso

The school inclusion presents a number of challenges that has been mobilizing initiatives and studies about its effectiveness. If on one hand in such studies and initiatives it becomes important to emphasize on the role and training of teachers, on the other, there is few studies about the role (and performance) of the pedagogical coordination in face of this process. In this sense, this research focuses on the role of educational coordination in face of the school inclusion of students with Special Educational Needs (SEN) and it undertakes the following study s questions: has the action by the coordinator contributed to the process of including students with Special Educational Needs? How is it presented in the process of inclusion of students with SEN in regular education? And it aims to: investigate the role of the pedagogical coordinator in the process of inclusion of students with Special Educational Needs of Primary Education at regular schools; and to analyze the limits and possibilities of the coordinator actions in the process of inclusion of students with SEN. For the effectiveness of the research, a state school of Elementary School located at the city of Natal/RN was taken as an empiric field. It was selected as research subjects 4 coordinators, 2 teachers of the Multifunctional Resources Room and 2 teachers of 6th to 9th grades. The methodological approach that was used in this research is consistent with the qualitative approach, and it is configured as a case study, as it is understood that this type of research responds to the objective of the study, assuming the observation of everyday school life, the educational document analysis and interviews with the subjects as procedures and tools to build data. The construction and analysis of the data were followed by a dialogue with the literature dedicated to coordinating education and school enrollment. Considering the responsibilities of the contemporary pedagogical coordination due to the challenges and possibilities of schooling for all students, specially regarding to what is referred as collaborative work and ongoing training of teachers, this study points out to the lack of an articulated action related to the school inclusion process, considering the monitoring of the teaching activity and its dialogue with the Multifunctional Resources Room. Moreover, the emphasis on meeting the daily school routines and the compliance with bureaucratic procedures, put it into second, restructuring of the Political-Pedagogical and the possibility of mobilization of school around the problematization and systematization of an inclusive school project. The effectiveness of school s inclusion, therefore, implies the scaling of the functions of the pedagogical coordination, as well as the reorganization of the school it self, to ensure the mediation of collaborative actions, contemplating the teachers continuing education, having as a landmark difficulties, problems and experiences constructed in the school context

Considerações sobre analgesia controlada pelo paciente em hospital universitário

JUSTIFICATIVA E OBJETIVOS: O rápido progresso obtido nas técnicas cirúrgicas e anestésicas nos últimos anos proporcionou extraordinário aumento das indicações de procedimentos invasivos. Por outro lado, com o envelhecimento da população, o período de recuperação pós-operatória passou a ser motivo de maior preocupação da equipe de saúde. Para tanto, novas técnicas de analgesia foram criadas e desenvolvidas e, dentre elas, destaca-se a Analgesia Controlada pelo Paciente (ACP). em nosso país, o Serviço de Dor Aguda (SEDA) da Disciplina de Terapia Antálgica e Cuidados Paliativos, do Departamento de Anestesiologia da Faculdade de Medicina de Botucatu - UNESP, utiliza há muitos anos esta técnica de analgesia. Com a finalidade de atestar a qualidade do serviço prestado, a pesquisa objetiva verificar a eficácia e segurança do método, assim como identificar e caracterizar a população atendida. MÉTODO: de modo retrospectivo, foram avaliados 679 pacientes tratados pelo SEDA, exclusivamente com o método de ACP, durante três anos. Os pacientes foram incluídos na análise aleatoriamente, sem restrições quanto à idade, ao sexo, ao tipo de cirurgia e considerando-se unicamente a possibilidade de indicação da ACP. Foram estudados os seguintes atributos: sexo, idade, tipo de cirurgia, intensidade da dor, dias de acompanhamento, analgésicos utilizados, vias de administração, ocorrência de efeitos colaterais e complicações da técnica. RESULTADOS: 3,96% dos pacientes submetidos a cirurgias e 1,64% dos internados no período observado foram acompanhados com técnica ACP. A cirurgia torácica foi a mais freqüentemente atendida, com 25% dos pacientes. A morfina foi o medicamento mais utilizado (54,2%), sendo a via peridural a preferencial (49,5%). A escala numérica verbal média foi de 0,8 (0-10). Os efeitos colaterais ocorreram em 22,4% dos doentes tratados. CONCLUSÕES: Os resultados foram considerados excelentes quanto à qualidade da analgesia, embora com ocorrência de efeitos colaterais indesejáveis, tendo havido boa aceitação da técnica de analgesia pelas clínicas atendidas.

Divertículo faringoesofagiano: avaliação dos resultados do tratamento

OBJETIVO: Avaliar a evolução pós-operatória de pacientes com divertículo faringoesofagiano submetidos aos tratamentos cirúrgico e endoscópico. MÉTODOS: Foram analisados de maneira retrospectiva 36 pacientes com divertículo faringo-esofagiano atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu - UNESP. Os pacientes foram distribuídos em dois grupos, na dependência do tratamento: grupo 1 (n=24) - diverticulectomia associada á miotomia do cricofaríngeo, através de cervicotomia esquerda; grupo 2 (n=12) - diverticulostomia endoscópica usando grampeador linear. RESULTADOS: A mortalidade operatória foi nula em ambos os grupos. Complicações precoces: grupo 1 - dois pacientes desenvolveram fistula cervical e outros dois, rouquidão; grupo 2 - sem complicações. Complicações tardias: grupo 1 - sem complicações: grupo 2: recidiva da disfagia em quatro pacientes (p=0,01). O seguimento médio foi 33 meses para o grupo 1 e 28 meses para o grupo 2. CONCLUSÃO: Os dois procedimentos foram eficazes na remissão da disfagia. O tratamento cirúrgico apresentou superioridade em relação ao endoscópico, com resolução da disfagia com um único procedimento. O tratamento endoscópico deve ser reservado para os mais idosos e portadores de comorbidades.

Cirurgia ambulatorial em proctologia: análise retrospectiva de 437 casos

RACIONAL: O número de cirurgias ambulatoriais realizadas em hospitais, como em clínicas particulares, cresce a cada dia. Hoje, em alguns países, como a França, há predomínio das cirurgias ambulatoriais em relação às hospitalares. OBJETIVO: Avaliar retrospectivamente os pacientes operados no Serviço de Cirurgia Ambulatorial do Hospital das Clínicas da Faculdade de Medicina de Botucatu, SP. CASUÍSTICA E MÉTODO: Foram estudados retrospectivamente 437 casos clínicos de patologias orificiais, analisando a distribuição por faixa etária, por sexo, por patologias e as complicações pós-operatórias. RESULTADOS: Notou-se predomínio de pacientes com idade inferior a 45 anos (62,8%), prevalência do sexo feminino (56%), sendo a doença hemorroidária (45,1%) a principal patologia e a dor e sangramento as complicações mais freqüentes (9,8% e 7,3%). CONCLUSÕES: Os resultados satisfatórios observados demonstram a possibilidade de realização, em ambulatório, de diversos procedimentos simples em patologias anorretais freqüentes, a baixo custo e poucas complicações, sendo estas não superiores às observadas em cirurgia hospitalar.

Complicações da terapia anticoagulante com warfarina em pacientes com doença vascular periférica: estudo coorte prospectivo

OBJETIVO: Estudar prospectivamente a freqüência de complicações em pacientes tratados com warfarina e acompanhados no Ambulatório de Anticoagulação da Faculdade de Medicina de Botucatu da Universidade Estadual Paulista. MÉTODOS: Pacientes sorteados entre os agendados para consulta de junho de 2002 a fevereiro de 2004. Na primeira consulta, foi preenchida ficha com dados de identificação e clínicos. A cada retorno, ou quando o paciente procurou o hospital por intercorrência, foi preenchida ficha com a razão normatizada internacional, existência e tipo de intercorrência e condições de uso dos antagonistas da vitamina K. RESULTADOS: Foram acompanhados 136 pacientes (61 homens e 75 mulheres), 99 com tromboembolismo venoso e 37 com doença arterial; 59 pacientes eram de Botucatu, e 77, de outros municípios. Foram registradas 30 intercorrências: nove não relacionadas ao uso da warfarina e 21 complicações hemorrágicas (38,8 por 100 pacientes/ano). Uma hematêmese foi considerada grave (1,9 por 100 pacientes/ano). As demais foram consideradas moderadas ou leves. Não houve óbitos, hemorragia intracraniana ou necrose cutânea. A única associação significante foi da freqüência de hemorragia com nível médio de razão normatizada internacional. CONCLUSÃO: Nossos resultados mostram a viabilidade desse tratamento em pacientes vasculares em nosso meio, mesmo em população de baixo nível socioeconômico, quando tratados em ambulatório especializado.