Beitrag zur Lehre von den Spätformen der progressiven Muskelatrophie nicht familiären Charakters

Journal of Neurology -     

Ueber Alopecia congenita

Ohne ZusammenfassungHierzu Taf. X, XI u. XII.     

Celebrating the 30th Anniversary of Genetic Epidemiology: How to Define Our Scope?†

We review the scope of the scientific discipline genetic epidemiology by considering the steps of genetic epidemiologic research. Starting from the classical definition of genetic epidemiology as provided by Morton and Chung [1978, ISBN‐13: 9780125080507], we propose a slightly modernized definition of the term genetic epidemiology.     

Pathogenesis of West Nile Virus Lineage 2 in Domestic Geese after Experimental Infection

West Nile virus (WNV) is an emerging infectious pathogen circulating between mosquitoes and birds but also infecting mammals. WNV has become autochthonous in Germany, causing striking mortality rates in avifauna and occasional diseases in humans and horses. We therefore wanted to assess the possible role of free-ranging poultry in the WNV transmission cycle and infected 15 goslings with WNV lineage 2 (German isolate). The geese were monitored daily and sampled regularly to determine viremia, viral shedding, and antibody development by molecular and serological methods. Geese were euthanized at various time points post-infection (pi). All infected geese developed variable degrees of viremia from day 1 to day 10 (maximum) and actively shed virus from days 2 to 7 post-infection. Depending on the time of death, the WN viral genome was detected in all examined tissue samples in at least one individual by RT-qPCR and viable virus was even re-isolated, except for in the liver. Pathomorphological lesions as well as immunohistochemically detectable viral antigens were found mainly in the brain. Furthermore, all of the geese seroconverted 6 days pi at the latest. In conclusion, geese are presumably not functioning as important amplifying hosts but are suitable sentinel animals for WNV surveillance.     

Getting the most out of your IP--patent management along its life cycle

Effectively managing and optimizing the value of the patent portfolio is a major challenge for many firms, especially those in knowledge intensive industries, such as the pharmaceutical, biotechnological and chemical industry. However, insights on effective patent portfolio strategies are rare. Therefore, in this article we investigate in detail how firms successfully manage and optimize their patent portfolios to increase their overall competitiveness. We discover that successful patent portfolio management is rooted in managing the patents along their life cycles. Based on the findings of ten case studies, we develop a holistic patent life cycle management model reflecting five distinctive phases of patent management: explore, generate, protect, optimize and decline. We conclude with how our findings can be used in practice.     

Tricyclic antidepressant overdose: incidence of symptoms

Forty consecutively hospitalized patients who had overdosed primarily with a tricyclic antidepressant (TCA) were observed until discharge. The severity of the overdose was documented by serial measurements of plasma TCA levels. Nineteen of the patients became comatose, 16 required supportive respiration, and 2 died. Individual symptoms in the 13 patients having plasma TCA levels greater than 1,000 ng/ml are shown. Plasma TCA measurements more reliably define patients who are at risk for major medical complications following overdose than does the amount of drug ingested by history. In the absence of plasma measurements, a QRS duration of 100 msec or more on a routine ECG within the first 24 hours defined all patients with major TCA overdoses.     

Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation.

BACKGROUND: NDN, which codes for the human necdin protein, is a candidate gene for Prader-Willi syndrome (PWS). One feature of this neurogenetic disorder is hyperphagia resulting in extreme obesity observed later in development. OBJECTIVE AND DESIGN: In this study we have used single-strand conformation polymorphism (SSCP) analysis to identify sequence variants at the human necdin gene. Furthermore we tested whether these variants were associated with obesity in extremely obese German children and adolescents. RESULTS: Two gene variants could be identified: a g.1352T-->C polymorphism in the putative promotor region and a silent g.2311C-->T polymorphism in the coding region. Genotype and allele frequency distribution of both of the polymorphisms were not significantly different between lower and higher body mass index (BMI) subjects. CONCLUSIONS: Hence, it is unlikely that these polymorphisms play a major role in the emergence of juvenile onset human obesity.