Acute toxicity assessment of N,N-diethyl-m-toluamide (DEET) on the oxygen flux of the dinoflagellate Gymnodinium instriatum

Ecotoxicology - Despite the ubiquitous occurrence of N,N-diethyl-m-toluamide (DEET) in aquatic systems, assessments evaluating the toxicity of DEET on phytoplankton species are summed to a single...     

Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients

Von Hippel-Lindau disease (VHL) is a heritable condition caused by pathogenic variants in VHL and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing efforts to collate VHL patient data do not adequately capture all VHL manifestations. We developed a comprehensive and standardized VHL database in the web-based application, REDCap, that thoroughly captures all VHL manifestation data. As an initial trial, information from 86 VHL patients from the University Health Network/Hospital for Sick Children was populated into the database. Analysis of this cohort showed missense variants occurring with the greatest frequency, with all variants localizing to the α- or β-domains of VHL. The most prevalent manifestations were central nervous system (CNS), renal, and retinal neoplasms, which were associated with frameshift variants and large deletions. We observed greater age-related penetrance for CNS hemangioblastomas with truncating variants compared to missense, while the reverse was true for pheochromocytomas. We demonstrate the utility of a comprehensive VHL database, which supports the standardized collection of clinical and genetic data specific to this patient population. Importantly, we expect that its web-based design will facilitate broader international collaboration and lead to a better understanding of VHL.     

Onkologische Rehabilitation

Von E. Aulbert http://www.krebsinfo.de/ki/empfehlung/gastro/S90.html stammt die Definition: “Aufgabe der Rehabilitation des onkologischen Patienten ist die Wiedererlangung des k?rperlichen, seelischen und sozialen Wohlbefindens, wodurch es dem Kranken erm?glicht wird, eine notwendigerweise verbleibende Behinderung zu akzeptieren und sein Leben eigengestalterisch zu führen.” Gerade im Hinblick auf M?glichkeiten der “,Eigengestaltung” ist das Internet, was die onkologische Rehabilitation anbelangt, eine wahre Fundgrube. Es werden im folgenden Leitlinien zur onkologischen Rehabilitation, Forschungsberichte auf diesem Gebiet, sozialrechtliche Aspekte der Rehabilitation, sowie online-Hilfen für Patienten und ?rzte zusammengetragen.     

Periodic leg movements in patients with obstructive sleep apnea syndrome during nCPAP therapy

Summary Excessive daytime sleepiness and concentration deficits are complained by patients with obstructive sleep apnea syndrome (OSAS) as well as by patients with periodic leg movements (PLM). PLM observed during nCPAP (nasal continuous airways pressure) therapy may therefore cause persistent complaints of diurnal symptoms despite sufficient treatment. 65 OSAS-patients (58 men, 7 women, aged 55.6 ± 8.0 years) were investigated before starting and after the first two nights of nCPAP therapy. Apnea/Hypopnea index decreased in all patients (28.8 ± 18.4/h to 11.5 ± 13.0/h, p ≤ 0.01). 26 patients had an initial PLM index > 5/­h which decreased during treatment (14.6 ± 6.4/h to 10.7 ± 7.8/h) with significant increase of sleep stages 3 and 4. In 22 patients with PLM index < 5/h index increased during therapy (2.7 ± 1.2 to 5.6 ± 7.7/h, p ≤ 0.01). 17 patients developed PLM for the first time during nCPAP-therapy (10.9 ± 3.2 PLM/h). Optimizing of nCPAP therapy did not change PLM frequency. Though the pathogenesis and daytime consequences of PLM in OSAS are not fully proved yet our study may entail different therapeutic approaches. In patients with a decrease of PLM during CPAP-therapy movements seemed at least partially induced by OSAS and CPAP may be the sufficient treatment. In the majority of our cases PLM was demasked during nCPAP therapy thus indicating an independent coexistence of periodic limb movement disorder and OSAS. These patients may profit from a treatment similar to the one in restless legs syndrome when daytime symptoms persist during CPAP therapy.     

Are Fears in Adults with Mental Retardation Adequately Represented in Fear Surveys?

The purpose of the study was to assess whether fears in adults with mental retardation reported via individual interviews are represented in fear surveys, and to provide an updated item pool for the development of a fear survey specifically designed for use with adults with mental retardation. Adults with mental retardation living in institutional and community settings (n = 17) listed feared stimuli in response to interview questions devised for the study. Correspondingly, caregivers (n = 19) were asked to list the consumers' fears. A total of 308 discrete responses were analyzed to assess overlap with six fear schedules cited in the literature as used with individuals with mental retardation. A relatively large percentage of the interview fear stimuli (41%) were not represented in any of the six fear schedules. A list of item responses to the interview are provided. Implications for assessment, intervention, and future instrument development are described.     

Lack of association of serotonin‐2A receptor gene polymorphism (T102C) with suicidal ideation and suicide

Serotonergic dysfunction has been implicated in the pathophysiology of affective disorders and suicidality. Especially the density of the 5‐HT2A receptor was claimed as being increased in suicidality, proposed as an adaptive upregulation due to reduced serotonergic transmission. Recent studies have shown an association of allele C of the 5‐HT2A‐T102C polymorphism with suicidal ideation in patients with major depression. The purpose of this study was to test whether this proposed marker indicates susceptibility not only to suicidal ideation in depressed patients but also to suicidality as a syndrome. We investigated the 5‐HT2A‐T102C polymorphism in 131 suicide victims with unknown underlying psychiatric diagnoses, 84 patients with major depression with or without suicidal ideation, and 125 healthy controls. We were unable to find any association of genotype or allele frequencies to major depression, suicidal ideation, or suicide as a syndrome. Thus, our results suggest that this polymorphism may not commonly be involved in the susceptibility to suicidality. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:831–835, 2000. © 2000 Wiley‐Liss, Inc.