Efficacy of pregabalin in childhood refractory partial seizure

About one third of partial seizures are refractory to treatment. Several anticonvulsant drugs have entered the market in recent decades but concerns about intolerance, drug interactions, and the safety of the drug are notable. One of these new anticonvulsants is pregabalin, a safe drug with almost no interaction with other antiepileptic drugs. In this open label clinical trial study, pregabalin was used for evaluation of its efficacy on reducing seizure frequency in 29 children suffering from refractory partial seizures. Average daily and weekly seizure frequency of the patients was recorded during a 6-week period [baseline period]. Then, during a period of 2 weeks [titration period], pregabalin was started with a dose of 25-75 mg/d, using method of flexible dose, and was brought to maximum dose of drug that was intended in this study [450 mg/d] based on clinical response of the patients and seizure frequency. Then the patients were given the drug for 12 weeks and the average frequency of daily and weekly seizures were recorded again [treatment period]. Reduction in seizure frequency in this study was 36% and the responder rate or number of patients who gained more than 50% reduction in seizure frequency was 51.7%. This study showed that pregabalin can be used with safety and an acceptable efficacy in treatment of childhood refractory partial seizures

Alexander disease: report of two unrelated infantile form cases, identified by GFAP mutation analysis and review of literature; the first report from Iran

Alexander disease [AD] is a sporadic leukodystrophy that predominantly affects infants and children and usually results in death within ten years after onset. The infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor retardation with loss of developmental milestones, megalencephaly and frontal bossing, seizures, pyramidal signs and ataxia. The diagnosis is based on magnetic resonance imaging [MRI] findings and confirmed by GFAP gene molecular testing. GFAP gene encodes glial fibrillary acidic protein, is the only gene in which mutation is currently known to cause AD which is inherited in autosomal dominant manner. In this article we report the first two Iranian cases of infantile AD and their clinical, brain MRI and molecular findings. We report two novel mutations too in the GFAP gene that are associated with infantile form of AD. GFAP gene mutations are a reliable marker for infantile AD diagnosed according to clinical and MRI defined criteria. A genotype-phenotype correlation had been discerned for the two most frequently reported GFAP gene mutations in infantile type of AD [R79 and R239], with the phenotype of the R79 mutations appearing much less severe than that of the R239 mutations. Our findings confirm this theory

[Esophagogastric mesenchymal tumors: analysis of 24 patients]

Gastrointestinal mesenchymal tumors are classified as tumors that originate from smooth muscles. Gastrointestinal stromal tumors [GIST] are the most common types of the proposed tumors and can be seen in the GI tract from the esophagus to the anus, but they are mostly seen in the stomach. Mostly from the stomach and asymptomatic, the majority of patients would benefit from surgery as the best method of treatment. In this retrospective study we evaluated the data of patients with the diagnosis of esophageal or gastric mesenchymal tumors admitted in Ghaem and Omid Hospitals affiliated to Mashhad University of Medical Sciences in Iran, from 1992 to 2010. We analyzed factors such as age, sex, presenting symptoms and signs, diagnostic methods, types of pathology, types of treatment, morbidity, mortality and 3-year survival rates. Twenty four patients [16 male, 8 female] with a mean age of 50 were included in the study. The common site of tumor was gastric fundus. The most common symptom at the time of diagnosis was epigastric fullness which was observed in almost 50% of the patients. The most common type of surgery in the patients was subtotal gastrectomy and no hospital mortality was recorded. Paralytic ileus was the commonest complication seen in five patients [20.5%]. Adjuvant therapy had been performed in eight patients [33.1%]. Following the patients three years postoperatively, there were only three deaths [12.45%]. Regarding to the low mortality and morbidity of the surgeries, surgical treatment, if tolerated, is recommended for all Esophagogastric mesenchymal tumors patients

Rapid DNA extraction protocol from stool, suitable for molecular genetic diagnosis of colon cancer

Colorectal cancer [CRC] is one of the most common forms of cancers in the world and is curable if diagnosed at the early stage. Analysis of DNA extracted from stool specimens is a recent advantage to cancer diagnostics. Many protocols have been recommended for DNA extraction from stool, and almost all of them are difficult and time consuming, dealing with high amount of toxic materials like phenol. Their results vary due to sample collection method and further purification treatment. In this study, an easy and rapid method was optimized for isolating the human DNA with reduced PCR inhibitors present in stool. Fecal samples were collected from 10 colonoscopy-negative adult volunteers and 10 patients with CRC. Stool [1 g] was extracted using phenol/chloroform based protocol. The amplification of P53 exon 9 was examined to evaluate the extraction efficiency for human genomic targets and also compared its efficiency with Machiels et al. and Ito et al. protocols. The amplification of exon 9 of P53 from isolated fecal DNA was possible in most cases in 35 rounds of PCR using no additional purification procedure for elimination of the remaining inhibitors. A useful, rapid and easy protocol for routine extraction of DNA from stool was introduced and compared with two previous protocols