High-dose versus low-dose valproate for the treatment of juvenile myoclonic epilepsy: Going from low to high.

Juvenile myoclonic epilepsy (JME) is a genetic generalized epilepsy accounting for 3-12% of adult cases of epilepsy. Valproate has proven to be the first-choice drug in JME for controlling the most common seizure types: myoclonic, absence, and generalized tonic-clonic (GTC). In this retrospective study, we analyzed seizure outcome in patients with JME using valproate monotherapy for a minimum period of one year. Low valproate dose was considered to be 1000mg/day or lower, while serum levels were considered to be low if they were at or below 50mcg/dl. One hundred three patients met the inclusion criteria. Fifty-six patients (54.4%) were female. The current average age was 28.4±7.4years, while the age of epilepsy onset was 13.6±2.9years. Most patients corresponded to the subsyndrome of classic JME. Forty-six (44.7%) patients were free from all seizure types, and 76 (73.7%) patients were free from GTC seizures. No significant difference was found in seizure freedom among patients using a low dose of valproate versus a high dose (p=0.535) or among patients with low blood levels versus high blood levels (p=0.69). In patients with JME, it seems appropriate to use low doses of valproate (500mg to 1000mg) for initial treatment and then to determine if freedom from seizures was attained.

Comercializació de pruebas genéticas: un enfoque biééticos / Markting geneticc tests: a bioethical approach / Comercalização dde provas genéticas: um enfoque bioético

Los grandes avances biotecnológicos en genética humana brindan la oportunidad de realizar un diagnóstico predictivo de múltiples enfermedades monogénicas así como la identificación de diversos genes que contribuyen a la presencia de enfermedades complejas. El problema bioético que ha surgido con esta tecnología es que muchas de esas pruebas se ofrecen directamente al consumidor y, en ocasiones, sin indicación médica, lo cual ocasiona que las personas que reciben los resultados los malinterpreten o generen falsas expectativas de los mismos, como es el caso de las enfermedades complejas, lo cual impide tomar decisiones informadas. Por tanto, es fundamental crear las condiciones adecuadas para que los laboratorios comerciales se apeguen a las normas éticas y legales establecidas en cada país, y que los consumidores estén bien informados.

The major biotechnological advances in human genetics provide an opportunity for pre-symptomatic diagnosis of several monogenic diseases, as well as the identification of many genes that contribute to presence of complex illnesses. The bioethical problem that has emerged with this technology resides in the fact that many of these tests are offered directly to consumers, sometimes without a doctor's orders. In such cases, people who request and receive the results are apt to misunderstand them or to generate false expectations, as in the case of complex diseases. This prevents informed decisions. Therefore, the appropriate conditions must be created for commercial laboratories to adhere to the ethical and legal standards established in each country and to ensure the consumer is well informed.

Os grandes avanços biotecnológicos em genética humana oferecem a oportunidade de realizar um diagnóstico preditivo de múltiplas doenças monogênicas bem como a identificação de diversos genes que contribuem para a presença de doenças complexas. O problema bioético que surge com esta tecnologia deve-se a que muitas dessas provas são oferecidas diretamente ao consumidor e, em ocasiões, sem indicação médica, o que faz com que as pessoas que recebem os resultados os mal interpretem ou gerem falsas expectativas sobre eles, como é o caso das doenças complexas, o que impede a tomada de decisões informadas. Portanto, é fundamental criar as condições adequadas para os laboratórios comerciais se apegarem às normas éticas e legais estabelecidas em cada país, e que os consumidores estejam bem informados.

Use of oral nutritional supplements in patients with Huntington's disease.

OBJECTIVE: This study assessed the effect of oral nutritional supplements on the nutritional status of patients with Huntington's disease. METHODS: This was an experimental, longitudinal, prospective study of 30 patients with Huntington's disease. We performed neurologic evaluation and dietary assessment and measured anthropometric indexes and biochemical indicators; in addition, patients were questioned about their weight, appetite, chewing difficulty, and dysphagia. Patients consumed two cans daily of a nutritional supplement that contributed an extra 473 kcal to their diet for a 90-d period. At the study's end, the supplement was suspended and the same variables were reassessed. RESULTS: After 90 d, 68.7% of patients had increased body weight, 68.7% had ideal body weight percentages and body mass indexes, 53.3% had increased midarm circumferences, and 60.0% had increased arm muscle circumferences and body fat percentages; these changes were statistically significant (P < 0.05). The neurologic evaluation subscales and the biochemical indicators did not change significantly. With regard to subjective variables, patients who reported losing weight during the 3 mo before the study did not lose more weight and patients who reported having an increased appetite before the study remained stable during the study. CONCLUSIONS: The nutritional intervention stabilized or slightly improved the anthropometric variables assessed; however, no significant change in body mass index occurred in 87% of patients. For the purpose of maintaining an acceptable nutritional status in patients who have Huntington's disease and normal nutritional status, we suggest oral nutritional supplements that contribute an average of 473 kcal/d in addition to a normal diet.

Assessment of the nutrition status of patients with Huntington's disease.

OBJECTIVE: The purpose of the present study was to compare the nutrition status of patients with Huntington's disease (HD) with that of control subjects by analyzing anthropometric and biochemical indicators, energy, and macronutrient intake and to determine which indicators are most altered in HD patients. METHODS: We assessed the nutrition status of 25 HD patients and 25 age- and sex-matched controls by measuring anthropometric and biochemical indicators. Food intake data were obtained by the 3-d record method to assess mean daily energy and macronutrient intake. We studied variables reported by the patients such as increased or decreased appetite, mastication difficulties, and solid food and liquid food dysphagia. A neurologist assessed the clinical features of HD patients by using the Unified Huntington's Disease Rating Scale. RESULTS: HD patients showed significantly lower anthropometric variables but significantly higher kilocalorie intake. Among the subjective variables analyzed, patient-referred weight loss, increased appetite, mastication, and solid food dysphagia were significantly more frequent in HD patients than in controls. We also found relations between motor disability and some anthropometric parameters in HD patients. In particular, we found a significant correlation between total motor disability score and body mass index and arm muscle circumference (r = -0.464 and -0.445, respectively; P < 0.05) and with percentage of body fat (r = -0.496, P = 0.012). CONCLUSIONS: It is of the utmost importance to identify nutritional alterations in HD patients and to find strategies to cover their kilocalorie and nutrient requirements to improve their quality of life.