Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis

Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense mutations within the CACNL1A4 gene. Here we report on a family with familial hemiplegic migraine and cerebellar ataxia with recurrent episodes of acute paranoid psychosis with anxiety and visual hallucinations associated with migraine attacks. Based on the clinical and haplotype evidence indicating linkage to chromosome 19 in this family, we hypothesize that a dysfunction of the mutated calcium channel may be involved not only in the development of hemiplegic migraine but also in the acute psychotic episodes observed in these patients

Comparison and calibration of a real-time virtual stenting algorithm using Finite Element Analysis and Genetic Algorithms

In this paper, we perform a comparative analysis between two computational methods for virtual stent deployment: a novel fast virtual stenting method, which is based on a spring–mass model, is compared with detailed finite element analysis in a sequence of in silico experiments. Given the results of the initial comparison, we present a way to optimise the fast method by calibrating a set of parameters with the help of a genetic algorithm, which utilises the outcomes of the finite element analysis as a learning reference. As a result of the calibration phase, we were able to substantially reduce the force measure discrepancy between the two methods and validate the fast stenting method by assessing the differences in the final device configurations

Neural-symbolic computing: An effective methodology for principled integration of machine learning and reasoning

Current advances in Artificial Intelligence and machine learning in general, and deep learning in particular have reached unprecedented impact not only across research communities, but also over popular media channels. However, concerns about interpretability and accountability of AI have been raised by influential thinkers. In spite of the recent impact of AI, several works have identified the need for principled knowledge representation and reasoning mechanisms integrated with deep learning-based systems to provide sound and explainable models for such systems. Neural-symbolic computing aims at integrating, as foreseen by Valiant, two most fundamental cognitive abilities: the ability to learn from the environment, and the ability to reason from what has been learned. Neural-symbolic computing has been an active topic of research for many years, reconciling the advantages of robust learning in neural networks and reasoning and interpretability of symbolic representation. In this paper, we survey recent accomplishments of neural-symbolic computing as a principled methodology for integrated machine learning and reasoning. We illustrate the effectiveness of the approach by outlining the main characteristics of the methodology: principled integration of neural learning with symbolic knowledge representation and reasoning allowing for the construction of explainable AI systems. The insights provided by neural-symbolic computing shed new light on the increasingly prominent need for interpretable and accountable AI systems

Etablierung der homöopathischen Mastitistherapie in einem biologisch-dynamisch wirtschaftenden Milcherzeugerbetrieb unter Berücksichtigung ökologischer, epidemiologischer und ökonomischer Gesichtspunkte.

6 Summary The dairy cow mastitis as a disease with an immense economic impact is widely spread in organic as well as in conventional farms. Due to the lack of alternatives to antibiotic treatment, most therapeutical measures are based on antibiotics even in organic farms and against common regulations. In contrary to these procedures the EU regulations (Council Regulation EC 1804/99)as well as the consumer’s anticipation demand the possibly lowest levels of residual charges of dairy products and environment. A two and a half year study in a bio-dyn dairy herd in Brandenburg (Germany) with 300 dairy cows suffering from udder health problems was conducted to evaluate if clinical mastitis in dairy cows is to control successfully with homeopathic remedies to minimize antibiotic treatment. To assess the efficacy of the homeopathic treatment the investigations are made using a double blind placebo controlled study design (RCCT). Using a predetermined treatment protocol and a certain diagnostic pattern to match right remedies in the sense of the homeopathic remedy pictures, the intention of the chosen treatment schedule was to provide a very transparent concept which can be used also by unexperienced veterinarians. For treatment of acute mastitis the following remedies were used: Phytolacca D6, Bryonia D6 , Echinacea D6 and Belladonna D6. Aconitum D6 was added in case of fever at the beginning of disease. Cases of chronical and subclinical mastitis were treated by Echinacea D6, Phytolacca D6 and Hepar sulfuris D8. In the first part of the study nearly all mastitis cases were treated only with homeopathics avoiding antibiotics strictly. The unsatisfying results in this part lead to a modification in the second part in which in case of certain infections (S.aureus, Sc.spp.) a limited use of antibiotics was admitted. Furthermore, selected udders with subclinical and chronical infections with these kind of bacteria were dried off antibiotically. Simultaneously the farmer was engaged to intensify the efforts to optimize preventive and environmental measures in the herd. In the second part of the study 126 cows (148 quarters) suffered from clinical mastitis (Verum: n=60; Placebo: n=66). The cure rates were nearly identical. In the whole population the clinical cure rate (CCR) immediately after treatment was 95%, 7 to 8 weeks after treatment 65%. The 107 clinically affected quarters which were infected by pathogenic bacteria showed a bacteriological cure rate (BCR) of 55% each and a complete bacterio-cytological cure rate (BCCR) of 35% and 40% after 4-5 weeks and 7-8 weeks after treatment, respectively. During the observation time of 8 weeks a total of 12 cows in each of the treatment groups produced a homologous recurrent infection. 6 cows in the verum group and 4 cows in the placebo group developed a new infection in one of the other quarters. The treatment results seems to be satisfying while the enhanced but still not optimized environmental conditions in the herd are possibly responsible for the high amount of new infections and recurrences. Looking at the results of the study at all, the use of antibiotics could be decreased by 75% due to the therapy management (in spite of the change of it because of unsatisfying results) in combination with preventive measures. Additionally the herd udder health could be increased. So the mean herd somatic cell count decreased by 75.000 somatic cells/ml to 165.000 somatic cells/ml. Furthermore, the milk yield increased by 250 kg to 6.500 kg/cow/year. The count of infections with S. aureus in the herd decreased dramatically. The decreasing input of antibiotics in mastitis therapy in the project farm lead to a decrease of 36.000 kg antibiotically loaded milk compared to a hypothetic conventional mastitis management. Furthermore, the omission of withdrawal times after homeopathic treatment resulted in a benefit of additional production milk of 25.000 kg. The antibiotics minimizing therapy concept of the second part of this investigation which could be evaluated under practice conditions can be recommended for other farms too if simultaneous herd prevention measures can be assured by the farm manager to ensure good preconditions for the convalescence of the cows. The cure rates after placebo are unexpected high. Due to these results it is profoundly debatable whether the strategies of conventional therapy of bovine mastitis are suitable to ensure herd udder health. It should be evaluated which part of the cure rate is amounted by self cure and which other factors have an effect on the healing. The nearly identical cure rates in both treatment groups do not allow the proof of homeopathic efficacy at all. Indeed, comparing the bacteriologically caused mastitis cases (107 quarters), there is a significantly higher cure rate in the verum group (p < 0.05)

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

<p>Abstract</p> <p>Background</p> <p>Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance.</p> <p>Methods</p> <p>Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the <it>EVC/EVC2 </it>locus. The results did not exclude linkage, so samples were sequenced for mutations.</p> <p>Results</p> <p>We identified a c.1868T>C mutation in <it>EVC</it>, which predicts p.L623P, and was homozygous in affected individuals.</p> <p>Conclusion</p> <p>We conclude that this <it>EVC </it>mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. <it>EVC </it>mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.</p