Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.

Meanings of Citizenship: Czech Citizen in a Comparative Perspective

This was an interdisciplinary cross-cultural project which subjected Czech citizens to theoretical analysis and empirical examination. In the first, theoretical, part of the work a typology of post-totalitarian citizenship was proposed containing five types of citizens: responsible democratic, social materialistic, passive asocial, hedonistic consuming, and predatory antisocial. While democratic citizenship stems from preserved civic virtues, the deficient types of citizenship are partially caused by the post-totalitarian syndrome. In the concrete empirical studies of the international context the most significant aspects of citizenship were examined. Czech citizens (students) displayed an encouraging level of political civic culture when they loaded more often than six other national samples on the factor of democratic citizenship (based on a questionnaire and Q-sort by Feierabend, Q-factor analysis), but their level of loyalty and low critical rebelliousness can also be seen as reason for concern. The Czech population provided contrasting results in measures of civility; although chronically complaining about interpersonal relations, they passed relatively well in a series of situational field experiments even in the international comparison (Levine's helping measures. Czech nationalism is primarily "cultural nationalism", which is less favourable for democratic citizenship than the "civic nationalism" of Americans.

The Long-Term Multicenter Observational Study of Dabigatran Treatment in Patients With Atrial Fibrillation (RELY-ABLE) Study

During follow-up of between 1 and 3 years in the Randomized Evaluation of Long-term Anticoagulation Therapy (RE-LY) trial, 2 doses of dabigatran etexilate were shown to be effective and safe for the prevention of stroke or systemic embolism in patients with atrial fibrillation. There is a need for longer-term follow-up of patients on dabigatran and for further data comparing the 2 dabigatran doses.

Loss of heterozygosity 1p36 and 19q13 is a prognostic factor for overall survival in patients with diffuse WHO grade 2 gliomas treated without chemotherapy

PURPOSE: This study was conducted to elucidate the impact of loss of heterozygosity (LOH) for chromosomes 1p36 and 19q13 on the overall survival of patients with diffusely infiltrating WHO grade 2 gliomas treated without chemotherapy. PATIENTS AND METHODS: We assessed the LOH status of tumors from patients harboring WHO grade 2 gliomas diagnosed between 1991 and 2000. Patients were either followed after initial biopsy or treated by surgery and/or radiation therapy (RT). Overall survival, time to malignant transformation, and progression-free survival were last updated as of March 2005. RESULTS: Of a total of 79 patients, LOH 1p36 and LOH 19q13 could be assessed in 67 and 66 patients, respectively. The median follow-up after diagnosis was 6 years. Loss of either 1p or 19q, in particular codeletion(s) at both loci, was found to positively impact on both overall survival (log-rank P < .01), progression-free survival, and survival without malignant transformation (P < .05). Tumor volume (P < .0001), neurologic deficits at diagnosis (P < .01), involvement of more than one lobe (P < .01), and absence of an oligodendroglial component (P < .05) were also predictors of shorter overall survival. The extent of surgery was similar in patients with or without LOH 1p and/or 19q; RT was more frequently resorted to for patients without than for patients with LOH 1p/19q (30% v 60%). CONCLUSION: The presence of LOH on either 1p36 or 19q13, and in particular codeletion of both loci is a strong, nontreatment-related, prognostic factor for overall survival in patients with diffusely infiltrating WHO grade 2 gliomas.

Ischemic muscle necrosis leading to life-threatening hyperkalemia. Case report and review of the literature

Objective: Description of a cat with ischemic muscle necrosis that suffered from cardiopulmonary arrest due to hyperkalemia. Pathogenesis, clinical signs and therapy of ischemic muscle necrosis are discussed and possible causes, symptoms and treatment of hyperkalemia are shown. Material and methods: case report of a four-year-old male castrated domestic shorthair cat. Results: The cat was successfully resuscitated and hyperkalemia was treated with different treatment modalities. Conclusion: Ischemic muscle necrosis can lead to severe live-threatening hyperkalemia which has to be anticipated, monitored and treated adequately. Aggressive fluid therapy might be responsible for a higher risk of hyperkalemia in predisposed cases. Clinical relevance: Potassium concentrations and acid-base disturbances must be closely monitored in patients with ischemic muscle necrosis