Juvenile neuronal ceroid lipofuscinosis; psychiatric symptoms, GAD-autoantibodies, and response to medication

Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the most common neurodegenerative diseases in childhood. Its clinical onset, with visual failure as the first sign, is between the ages of 4 to 8 years. During the disease progress, epilepsy, motor symptoms, cognitive decline, and psychiatric symptoms become apparent. It leads to premature death between ages 15 and 30. Treatment consists of symptomatic drug administration and various forms of rehabilitation, but to date, no curative treatment exists. To gain a more comprehensive picture of psychiatric problems, symptoms were evaluated by the Child Behavior Checklist, the Teacher Report Form, and the Children s Depression Inventory. The JNCL patients had a great number of severe psychiatric symptoms, with wide inter-individual variability. The most common symptoms were social, thought, attention, and sleep problems, somatic complaints, and aggressive behaviour. Patients with psychotropic treatment had more problems than did those without psychotropic treatment, and female patients had more problems than did males. Between 10 and 20% of the patients reported depressive symptoms. In a 5-year follow-up, [123I]β-CIT SPECT and MRI revealed a tendency of decreasing serotonin transporter (SERT) availability and progressive brain atrophy. The correlation between changes in midbrain SERT and total brain volume was positive; no correlation appeared between SERT or brain atrophy and depressive symptoms. Thus, it seems likely that the low SERT availability is associated with progressive brain atrophy; it may also predispose towards depression, however. An open survey of psychotropic drugs and their efficacy was performed on JNCL patients in Finland. The most commonly used psychotropic drugs were the antidepressant citalopram and the antipsychotic risperidone. Their efficacy was good or satisfactory in the majority of cases and they seemed well tolerated. Quetiapine had a marked effect on one patient with a history of severe psychotic symptoms. Glutamate decarboxylase 65 autoantibodies (GAD65ab), found in JNCL patients, indicate that an immunomediated reaction against GAD or GABAergic neurons may play a part in the underlying pathogenetic mechanism. GAD65ab s also appeared in the serum of all eight JNCL patients included and intermittent corticosteroid therapy was initiated in all cases. After one year, the GAD65ab s had disappeared in the two oldest patients, who experienced an improvement in motor symptoms and alertness associated with their prednisolone therapy. Two younger patients experienced a significant IQ increase, but no change in GADab s. A randomized study with longer follow-up time is needed, however, to clarify the effect of prednisolone on disease progression.

Psychiatric disturbances in children with intellectual disability : Prevalence, risk factors and assessment

Children with intellectual disability are at increased risk for emotional and behavioural problems, but many of these disturbances fail to be diagnosed. Structured checklists have been used to supplement the psychiatric assessment of children without intellectual disability, but for children with intellectual disability, only a few checklists are available. The aim of the study was to investigate psychiatric disturbances among children with intellectual disability: the prevalence, types and risk factors of psychiatric disturbances as well as the applicability of the Finnish translations of the Developmental Behaviour Checklist (DBC-P) and the Child Behavior Checklist (CBCL) in the assessment of psychopathology. The subjects comprised 155 children with intellectual disability, and data were obtained from case records and five questionnaires completed by the parents or other carers of the child. According to case records, a psychiatric disorder had previously been diagnosed in 11% of the children. Upon careful re-examination of case records, the total proportion of children with a psychiatric disorder increased to 33%. According to checklists, the frequency of probable psychiatric disorder was 34% by the DBC-P, and 43% by the CBCL. The most common diagnoses were pervasive developmental disorders and hyperkinetic disorders. The results support previous findings that compared with children without intellectual disability, the risk of psychiatric disturbances is 2-3-fold in children with intellectual disability. The risk of psychopathology was most significantly increased by moderate intellectual disability and low socio-economic status, and decreased by adaptive behaviour, language development, and socialisation as well as living with both biological parents. The results of the study suggest that both the DBC-P and the CBCL can be used to discriminate between children with intellectual disability with and without emotional or psychiatric disturbance. The DBC-P is suitable for children with any degree of intellectual disability, and the CBCL is suitable at least for children with mild intellectual disability. Because the problems of children with intellectual disability differ somewhat from those of children without intellectual disability, checklists designed specifically for children with intellectual disability are needed.

Functional outcome and health-related quality of life after traumatic brain injury in the framework of the International Classification of Functioning, Disability and Health (ICF)

Traumatic brain injury (TBI) affects people of all ages and is a cause of long-term disability. In recent years, the epidemiological patterns of TBI have been changing. TBI is a heterogeneous disorder with different forms of presentation and highly individual outcome regarding functioning and health-related quality of life (HRQoL). The meaning of disability differs from person to person based on the individual s personality, value system, past experience, and the purpose he or she sees in life. Understanding of all these viewpoints is needed in comprehensive rehabilitation. This study examines the epidemiology of TBI in Finland as well as functioning and HRQoL after TBI, and compares the subjective and objective assessments of outcome. The frame of reference is the International Classification of Functioning, Disability and Health (ICF). The subjects of Study I represent the population of Finnish TBI patients who experienced their first TBI between 1991 and 2005. The 55 Finnish subjects of Studies II and IV participated in the first wave of the international Quality of life after brain injury (QOLIBRI) validation study. The 795 subjects from six language areas of Study III formed the second wave of the QOLIBRI validation study. The average annual incidence of Finnish hospitalised TBI patients during the years 1991-2005 was 101:100 000 in patients who had TBI as the primary diagnosis and did not have a previous TBI in their medical history. Males (59.2%) were at considerably higher risk of getting a TBI than females. The most common external cause of the injury was falls in all age groups. The number of TBI patients ≥ 70 years of age increased by 59.4% while the number of inhabitants older than 70 years increased by 30.3% in the population of Finland during the same time period. The functioning of a sample of 55 persons with TBI was assessed by extracting information from the patients medical documents using the ICF checklist. The most common problems were found in the ICF components of Body Functions (b) and Activities and Participation (d). HRQoL was assessed with the QOLIBRI which showed the highest level of satisfaction on the Emotions, Physical Problems and Daily Life and Autonomy scales. The highest scores were obtained by the youngest participants and participants living independently without the help of other people, and by people who were working. The relationship between the functional outcome and HRQoL was not straightforward. The procedure of linking the QOLIBRI and the GOSE to the ICF showed that these two outcome measures cover the relevant domains of TBI patients functioning. The QOLIBRI provides the patients subjective view, while the GOSE summarises the objective elements of functioning. Our study indicates that there are certain domains of functioning that are not traditionally sufficiently documented but are important for the HRQoL of persons with TBI. This was the finding especially in the domains of interpersonal relationships, social and leisure activities, self, and the environment. Rehabilitation aims to optimize functioning and to minimize the experience of disability among people with health conditions, and it needs to be based on a comprehensive understanding of human functioning. As an integrative model, the ICF may serve as a frame of reference in achieving such an understanding.

Snoring and sleep apnea in children

Snoring is a primary and major clinical symptom of upper airway obstruction during sleep. Sleep-disordered breathing ranges from primary snoring to significant partial upper airway obstruction, and obstructive sleep apnea. Adult snoring and obstructive sleep apnea have been extensively studied, whereas less is known about these disorders in children. Snoring and more severe obstructive sleep apnea have been shown to have a harmful effect on the neurobehavioral development of children, but the mechanisms of this effect remains unknown. Furthermore, the correlation of this effect to objective sleep study parameters remains poor. This study evaluated the prevalence of snoring in preschool-aged children in Finland. Host and environmental risk factors, and neurobehavioral and neurocognitive symptoms of children suffering from snoring or obstructive sleep apnea were also investigated. The feasibility of acoustic rhinometry in young children was assessed. The prevalence and risk factors of snoring (I) were evaluated by a questionnaire. The random sample included 2100 children aged 1-6 years living in Helsinki. All 3- to 6-year-old children whose parents reported their child to snore always, often, or sometimes were categorized as snorers, and invited to participate to the clinical study (II-IV). Non-snoring children whose parents were willing to participate in the clinical study were invited to serve as controls. Children underwent a clinical ear-nose-throat examination. Emotional, behavioral, and cognitive performances were evaluated by Child Behavioral Checklist (CBCL), Wechsler Preschool and Primary Scale of Intelligence (WPPSI-R) and NEPSY-A Developmental Neuropsychological Assessment (NEPSY). Nasal volume was measured by acoustic rhinometry, and nasal resistance by rhinomanometry. Lateral and posteroanterior cephalometry were performed. A standard overnight ambulatory polysomnography was performed in the home environment. Twenty-six healthy children were tested in order to assess the feasibility of acoustic rhinometry in young children (V). Snoring was common in children; 6.3% of children snored always or often, whereas 81.3% snored never or occasionally. No differences were apparent between snorers and non-snorers regarding age, or gender. Pediatric snoring was associated with recurrent upper respiratory infections, otitis media, and allergic rhinitis. Exposure to parental tobacco smoke, especially maternal smoking, was more common among snorers. Rhinitis was more common among children who exposured to tobacco smoke. Overnight polysomnography (PSG) was performed on 87 children; 74% showed no signs of significant upper airway obstruction during sleep. Three children had obstructive apnea/hypopnea index (OAHI) greater than 5/h. Age, gender, or a previous adenoidectomy or tonsillectomy did not correlate with OAHI, whereas tonsillar size did correlate with OAHI. Relative body weight and obesity correlated with none of the PSG parameters. In cephalometry, no clear differences or correlations were found in PSG parameters or between snorers and non-snorers. No correlations were observed between acoustic rhinometry, rhinomanometry, and PSG parameters. Psychiatric symptoms were more frequent in the snoring group than in the nonsnoring group. In particular, anxious and depressed symptoms were more prevalent in the snoring group. Snoring children frequently scored lower in language functions. However, PSG parameters correlated poorly with neurocognitive test results in these children. This study and previous studies indicate that snoring without episodes of obstructive apnea or SpO2 desaturations may cause impairment in behavioral and neurocognitive functions. The mechanism of action remains unknown. Exposure to parental tobacco smoke is more common among snorers than non-snorers, emphasizing the importance of a smoke-free environment. Children tolerated acoustic rhinometry measurements well.

Revista de Psicología, 2008, Vol. 4 N°8 (número completo)

Problemas Teórico-Científicos y Metodológicos de la Investigación Clínico-Psicoanalítica. Segunda Parte / Helmut Thomä ; Horst Kächele -- Los aportes de Lev S. Vygotsky a la investigación educativa / Wanda Rodríguez Arocho -- La noción de cambio en la ZDP / Ricardo Esteban Maquieira -- Bienestar, orientación temporal y estrategias de control en personas mayores: un estudio exploratorio / Juan Francisco Díaz Morales ; Mario Toboso Martín ; Celeste Dávila León ; Cristina Escribano Barreno ; Pedro Delgado Prieto -- Inserción laboral y condiciones psicológicas: un estudio en sectores urbanos de la Argentina / María Elena Brenlla ; Agustín Salvia ; María Belén Despierre -- El Child Behaviour Checklist: su estandarización en población urbana argentina / Virginia Corina Samaniego -- Resenciones bibliográficas

La demanda de telefonía fija y móvil: Una aplicación de redes neuronales artificiales

[ES] El catalogar a un determinado bien o servicio como una de las «extensiones de los sentidos y las funciones humanas de la vista, el oído y el tacto», muestra la importancia del papel que desempeñan en nuestras vidas, muestra el desarrollo que alcanzaron impulsadas por las mismas necesidades de los seres humanos, muestra un mercado dinámico e importante. El servicio de telefonía móvil o celular es el desencadenador de estas expresiones y además tema de comentario, investigación y preocupación de comunidades científicas y organismos internacionales como el World Economic Forum de Davos.

Nueva lista de las aves de la provincia de Buenos Aires.

El presente trabajo aporta información de base para el seguimiento y evaluación de la biodiversidad de las aves a escala local o regional. Para la realización de la lista, hemos tenido como punto de referencia la Lista sistemática de las aves de la provincia de Buenos Aires de N. Bó y C. Darrieu 1991 y Las aves de la provincia de Buenos Aires: distribución y estatus de T. Narosky y A. Di Giácomo 1993. La presente enumeración considera todas las especies de aves que habitan la provincia de Buenos Aires, es decir aquellas que nidifican o que pasan gran parte del año en la misma. Se excluyen, por lo tanto, aquellas especies accidentales y ocasionales. Los datos se basan en citas bibliográficas recientes, material de colección y observaciones de campo realizadas por los autores. Para indicar la distribución geográfica de las aves se ha seguido el esquema propuesto por Ringuelet y Arámburu (1957, Enumeración sistemática de los Vertebrados de la Provincia de Buenos Aires). Según el mismo se divide a la provincia en cuatro áreas: la 1 posee una avifauna de tipo subtropical; en la 2 se encuentran aves pampeanas con ingresión de especies de la Provincia Chaqueña (Distrito Occidental); en la 4 la avifauna presenta un gran número de especies que llegan por el sur desde la Provincia del Monte (Distrito Meridional) y de la Provincia Patagónica (Distrito Occidental); el área 3 es de transición con aporte de especies de las otras zonas. La presente lista comprende los nombres científicos tomados de Altman & Swift (1989), Checklist of the Birds of South America. Para los nombres vulgares se siguió a Navas et al (1991). Lista Patrón de Nombres Comunes de las Aves Argentinas. Se incluye además una lista de las especies exóticas naturalizadas. (Text is in Spanish.

Deportividad y violencia en el fútbol base: un programa de evaluación y de prevención de partidos de riesgo

Este trabajo ha recibido el “Primer Premio Delegación del Gobierno en Aragón a las buenas prácticas contra la delincuencia juvenil” (Convocatoria 2007).

Taxonomic and ecological survey of the flora of Calvert County, Maryland

Resulted from a occasional field trips on the Patuxent River, 1964-1968. Taxonomy and ecology survey following the quarter method (Cottam and Curtis, 1956) Includes: Literature review: Forests, soils, ecology; Materials and Methods: location, criteria, map of Calvert county; Results: descriptive, species of trees sampled; soils, ecology; discussion: vegetational, soils, ecology; Summary; Climate; Physical features of Calvert County; Botanical descriptions; Tables, Current checklist of vascular plants; selective bibliography

Marine Flora and Fauna of the Eastern United States: Dicyemida

This manual treats the six species of dicyemid mesozoans that have been reported in three species of hosts (Octopus vulgaris, O. joubini, and O. briareus) from the eastern coast of North America and the Gulf of Mexico, including the Florida Keys. All are parasites of species of Octopus and are in the genus Dicyema, family Dicyemidae. In the introduction, the life cycle, as known, and the general morphology of dicyemids are briefly described, and methods are given for collecting and preparing material for study. These are followed by a key to species and by an annotated checklist, which includes data, some hitherto unpublished, on their known prevalence in hosts from various localities including Bimini and Bermuda.(PDF file contains 20 pages.)

Marine flora and fauna of the eastern United States Mollusca: Cephalopoda

The cephalopods found in neritic waters of the northeastern United States include myopsid and oegopsid squids, sepiolid squids, and octopods. A key with diagnostic illustrations is provided to aid in identification of the eleven species common in the neritic waters between Cape Hatteras and Nova Scotia; included also is information on two oceanic species that occur over the continental shelf in this area and that can be confused with similar-looking neritic species. Other sections comprise a glossary of taxonomic characters used for identification of these species, an annotated systematic checklist, and checklists of the 89 other oceanic species and 18 Carolinian and subtropical neritic species that might occur occasionally off the northeastern United States. (PDF file contains 30 pages.)

Behavioral profile of adults with Prader-Willi syndrome : correlations with individual and environmental variables

Background: Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data. Methods: The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features. Results: Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance. Conclusions: Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS.

Seguridad del paciente quirúrgico

INTRODUCCIÓN: La Seguridad Clínica es un tema que ya preocupaba a los profesionales sanitarios en la antigüedad, y un componente fundamental de la calidad asistencial. Razón ésta por la cual, varios organismos a nivel mundial están desarrollando diferentes Estrategias de Seguridad, haciendo hincapié en la creación de una cultura de seguridad proactiva, en la que se lleve a cabo una gestión eficaz de los riesgos y se notifiquen los Eventos Adversos para aprender de los errores y evitar que vuelvan a producirse(1). OBJETIVOS: Conocer la situación actual de la Seguridad Clínica en el ámbito de la cirugía, así como las estrategias de las que disponemos para lograr una práctica quirúrgica segura. METODOLOGÍA: Búsqueda bibliográfica en la principales bases de datos sobre temas de salud (Cochrane, Medline, Elservier, Cuiden, Dialnet y Scielo) y Webs de diferentes organismos oficiales, que me permitan alcanzar los objetivos propuestos. RESULTADOS Y DISCUSIÓN: Los Eventos Adversos derivados de la práctica quirúrgica son causa de una elevada morbi-mortalidad en los pacientes. Sólo en nuestro país, prácticamente la mitad de los Eventos Adversos que se producen tienen lugar en servicios quirúrgicos; y de éstos, más de la mitad se consideran graves. Para reducirlos debemos emplear estrategias de seguridad, propuestas por la Organización Mundial de la Salud, entre las que destaca el uso del «Checklist», cuya correcta cumplimentación ha demostrado un descenso relevante de los Eventos Adversos derivados de la cirugía permitiendo, por tanto, mejorar la calidad de los cuidados(2). CONCLUSIONES: Sólo con la realización de unas prácticas quirúrgicas seguras, investigación, formación e implicación, tanto de los profesionales sanitarios como de los pacientes, lograremos crear una cultura de seguridad en el área quirúrgica(2).

Impressão de livros sob demanda: o design como ponte entre distintos registros produtivos

A presente dissertação trata de um estudo sobre produção de livros sob demanda em dois momentos distintos da indústria gráfica. Apresentamos uma abordagem histórica do percurso do livro, segundo seus atributos materiais e tecnológicos, que marcaram a transformação de seu caráter fabril de micro e pequena escalas à produção em massa. Ao analisar referências manufatureiras de tiragem limitada do livro no âmbito da impressão tipográfica e digital, observamos o papel que o design é capaz de exercer, representando uma conexão entre esses dois registros técnicos intrinsecamente diferentes. Através da utilização de um modelo descritivo de obras sob o ponto de vista do design gráfico, buscamos pontos de convergência e divergência passíveis de auxiliar na compreensão do atual contexto de transição por que passa o mercado editorial.

Prevalência de transtorno do estresse pós-traumático no período pós-parto entre mulheres atendidas em maternidade de referência para agravos perinatais no município do Rio de Janeiro

O Transtorno do estresse pós-traumático (TEPT) é um transtorno mental que ocorre em resposta a um evento traumático que coloca em risco a vida do indivíduo ou de outras pessoas. O TEPT no período pós-parto foi documentado pela primeira vez em 1978. Porém, há poucos estudos sobre o tema, principalmente em gestantes de alto risco materno e fetal. Visando preencher essa lacuna, essa dissertação tem por objetivo estimar a magnitude de TEPT no período pós-parto em uma maternidade de alto risco fetal no município do Rio de Janeiro e identificar subgrupos vulneráveis ao transtorno. Trata-se de um estudo transversal, cuja população de estudo foi composta por 456 mulheres que tiveram o parto no Instituto Fernandes Figueira e realizaram a consulta de revisão pós-parto entre fevereiro e julho de 2011. Casos suspeitos de TEPT foram identificados por meio de dois instrumentos: Trauma History Questionnaire (THQ) utilizado para a captação de situações potencialmente traumáticas ao longo da vida e Post-Traumatic Stress Disorder Checklist (PCL-C) para rastreio de sintomas de TEPT. A prevalência agregada de TEPT no período pós-parto foi de 9,4%. Subgrupos considerados vulneráveis foram: mulheres com três ou mais partos anteriores (15,1%), com o recém-nascido com APGAR menor ou igual a 7 no primeiro minuto (13,6%), com histórico de psicopatologia anterior (29,0%) ou concomitante à gestação (36,7%), com depressão pós-parto (31,5%), mulheres que sofreram violência física (19,8%) e psicológica (11,6%) perpetrada por parceiro íntimo durante a gestação, mulheres que sofreram abuso sexual na infância (25,7%) e com histórico de 5 ou mais situações traumáticas anteriores (25,9%). A elevada prevalência de TEPT encontrada entre as mulheres entrevistadas pode ser, em parte, atribuída às particularidades da população assistida nessa instituição, de reconhecido risco materno e fetal. A alta prevalência de casos suspeitos de depressão pós-parto entre as mulheres com suspeição de TEPT é um fator de preocupação adicional, já que dificulta o manejo clínico dos casos e afasta a mulher e a criança dos serviços de saúde. TEPT no período pós-parto não é um evento raro e merece atenção. Rápido diagnóstico e tratamento são fundamentais para a melhor qualidade de vida da mãe tornando-a apta aos cuidados do recém-nascido.