Genetic background of epilepsies

In this article we review epilepsies with monogenic inheritance. Most of these diseases are caused by abnormal function of ligand- and voltage gated ion channels caused by a genetic defect, therefore belonging to the channelopathies. From the inherited epilepsies the genetics of the autosomal dominant partial epilepsies is clarified the best. Mutations of the nicotinic acetylcholine receptor subunits are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions. Familial temporolateral epilepsy was associated with mutations of a tumor suppressor gene. From the generalized epilepsies, the syndrome of generalized epilepsy with febrile seizures plus (GEFS+) can be caused by mutations of the sodium channel subunits and of the GABAA receptor subunits. These important results would probably lead to new findings in the genetics of the more common forms of idiopathic generalized epilepsies, which have presumed polygenic origin. Although without definite conclusions, sodium channel and GABA receptor dysfunction is presumed. The accumulated knowledge about channelopathies enables insight to the cellular mechanism of epileptogenesis as well.     

Übergewicht und Adipositas bei Kindern und Jugendlichen mit Diabetes mellitus Typ 1

Background. An increasing prevalence of overweight and obesity in children with diabetes has been documented.With the German database of pediatric diabetic patients (DPV) this study should calculate exact numbers of this prevalence and evaluate possible influences. Patients. We evaluated the datas of 13.599 children and adolescents,sampled from 1994 up to June 2001. As control we used the new German BMI-percentiles [21]. Results. The overall prevalence of overweight (11,3%) and obesity (5,3%) in diabetic patients was moderately elevated. In the age group 3–5 years the prevalence was a little higher (overweight 12,3/obesity 6,7%). In adolescents only the girls showed a high prevalence of overweight (16,6%) and obesity (11,4%). In girls above 15 years, there was a significant correlation between the prevalence of overweight and the duration of diabetes. In patients with overweight or obesity intensified insulintherapy was more often described than conventional therapy.     

Diagnosis of Chlamydia trachomatis using PCR in gynecology patients in Slovakia

The authors examined using the polymerase chain reaction (PCR) more than 2700 gynaecological patients for the presence of Ch. tracheomatis. The patients were mostly from Bratislava and surroundings. The material used were cervical smears or morning urine. The most frequent diagnoses associated with Chlamydia infection were adnexitis (38%), cervicitis (22%), pelvic pain (9%), sterility (9%), cystitis and ureteritis (3%) abortus imminenes (4%) partus prematurus imminenes (9%). There was a marked seasonal character of chlamydias with the peak during the summer period. The mean age of the patients was 29.2 years and thus the assumed higher incidence of younger age groups was not confirmed. PCR proved to be an accurate, reliable and perspective method for the detection of Ch. trachomatis in Slovak gynaecological patients.     

Blood substitutes--current evidence

The aim to find an artificial substitute for human blood has failed in the past 70 years and will most probably fail in the following future. Genomics, proteomics and posttranslational research have revealed that blood is our most complex and highly coordinated organ. Plasma substitutes can only promote a single function of plasma: the blood volume replacement. The even more complex coordination of the intraerythrocytic hemoglobin functions based on the allosteric structural changes induced by binding of O2, CO2 and NO can not be replaced safely by artificial oxygen carriers. Cell-free haemoglobin binds NO, which under physiological conditions coordinates O2 supply with the respiratory cycle and vasomotor function. The binding of NO to haemoglobin results in hypertonic crisis and in increase of leukocyte adherence and platelet aggregation. These complications may have a fatal outcome.     

Interference of mouse polyomavirus with the c-myc gene and its product in mouse mammary adenocarcinomas

In two tumour sublines (T.wt/BL and T.wt/Bc), established from mammary adenocarcinomas caused by mouse polyoma (Py) infection of nu/nu mice, integration of polyomavirus DNA sequences into the c-myc gene locus was mapped. A complete Py genome was found to be integrated just upstream from the c-myc gene in T.wt/BL cell line, while only a part of the early Py region coding for the early proteins was inserted in the chromosomal DNA of T.wt/Bc cells. An interference of Py sequences with the regulation of c-myc gene expression gives further significance to a Py-derived tumour system that appears to be similar to some human mammary cancers in the modifications of c-myc expression. Both cell lines were found to produce truncated large T antigen and entire middle and small T antigens. In addition, production of VP1 protein was observed in the T.wt/BL cell line. The integration of polyomavirus sequences and/or expression of viral proteins caused an elevation of c-myc expression. The level of the c-myc expression was higher in both tumour cell lines in comparison with control normal murine mammary gland (NMuMG) lines, but substantially lower than in NMuMG cells infected with polyomavirus. Possible co-operation of Py proteins with c-Myc was examined. Through GST fusion protein pull-down experiments, we evidenced, that c-Myc forms a complex with the common part of the Py early antigens in the two tumour cell lines. Co-localisation of the c-myc and LT was observed in cells overexpressing c-Myc and LT.     

女性慢性下腹痛的干预性治疗

1背景 育龄妇女常见慢性下腹痛，可造成身体损害、情绪忧伤及导致巨大的健康服务费用。美国在这方面的花费超过8亿8千万美元（Mathias 1996）。英国全国数据库的一般性诊治资料显示，慢性下腹痛发病率及流行率与偏头痛、背部痛、哮喘发病率相似（Zondervan 1999）。