Publications by authors named "Huth E"

variants cause a range of epilepsy syndromes, including Dravet syndrome, leading to early cognitive and functional impairment. Despite advances in medical management, drug-resistant epilepsy remains common. Vagal nerve stimulation (VNS) has been suggested reducing seizure frequency in these patients but there is a lack of long-term follow-up, quantitative analysis that corrected for confounding factors such as antiseizure medications (ASMs) and the impact of VNS settings on response.

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  • * A study analyzed 21 individuals with ALPK3tv, revealing they typically present symptoms at an older age (average 57.25 years) and exhibit less severe heart thickening compared to 132 control patients with other HCM-related genetic variants.
  • * ALPK3tv patients show a lower occurrence of obstructive HCM and a higher rate of apical aneurysms, suggesting milder hypertrophy but an increased risk for arr
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Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from 49 individuals to determine the diagnostic yield of clinical exome sequencing (ES) for non-isolated APVR.

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  • * Researchers created mice with active IL-6R in T cells to study its effects, finding that it led to lung inflammation and activated T cell accumulation, particularly TH17 cells.
  • * While gp130 signaling in T cells promotes activated T cell presence and memory formation, it does not directly cause TH17 differentiation or lead to T cell lymphoma.
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The spread of antimicrobial resistance has become a serious public health concern, making once-treatable diseases deadly again and undermining the achievements of modern medicine. Drug combinations can help to fight multi-drug-resistant bacterial infections, yet they are largely unexplored and rarely used in clinics. Here we profile almost 3,000 dose-resolved combinations of antibiotics, human-targeted drugs and food additives in six strains from three Gram-negative pathogens-Escherichia coli, Salmonella enterica serovar Typhimurium and Pseudomonas aeruginosa-to identify general principles for antibacterial drug combinations and understand their potential.

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The performance of a hydrophilic polyester tubular pervaporative membrane in treating high-salinity water for irrigation was investigated. The membrane was filled with contaminated water and placed in air, soil or sand media. When this occurs water diffuses through the tube, trapping salts within the tube.

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Benjamin Franklin's place in the history of medicine.

J R Coll Physicians Edinb

December 2007

Benjamin Franklin's seemingly endless curiosity and his prolific contributions in diplomacy, politics, literature, and science may well justify calling him the most eminent man in eighteenth-century American life. One portion of these contributions still striking for the insights and productivity it shows was in medicine. He saw the value in inoculation against smallpox.

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Some aspects of the "impact factor", a quantitative measure of journals' influence on journals in scientific fields, were discussed in the preceding issue of the Croatian Medical Journal by Dr Eugene Garfield, one of its devisers. This factor can be of interest to authors, journal editors, and policy makers, but they should keep in mind the complexity of the determinants of impact factors while using them in coming to their particular kinds of decisions. A clearer picture of the influence a journal may have in its own scientific field rather than among all scientific journals could come from a variant of the impact factor, "the scope-adjusted impact factor".

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Background: : "Diagnostic accuracy" refers to the ability of medical tests to provide accurate information about diagnosis, prognosis, risk of disease, and other clinical issues. Published reports on diagnostic accuracy of medical tests frequently fail to adhere to minimal clinical epidemiological standards, and such failures lead to overly optimistic assessments of evaluated tests. Our aim was to enumerate key items for inclusion in published reports on diagnostic accuracy, with a related aim of making the reports more useful for systematic reviews.

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Following proposals in 1987 and 1988, several medical journals have provided more informative abstracts ("structured abstracts") for articles of clinical interest. Structured abstracts for original studies require authors to systematically disclose the objective, basic research design, clinical setting, participants, interventions (if any), main outcome measurements, results, and conclusions; and for literature reviews the objective, data sources, methods of study selection, data extraction and synthesis, and conclusions. More informative abstracts of this kind can facilitate peer review before publication, assist clinical readers to find articles that are both scientifically sound and applicable to their practices, and allow more precise computerized literature searches.

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New technologies offer new ways to deliver scholarly information, perhaps advantageously compared with paper journals, which have been an accustomed mode of scholarly communication for 300 years. Paper journals offer conveniences in handling and reading, and the economic constraints on their length tend to ensure that this constraint is important. Electronic journals are not yet as easy to use.

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Ethical standards are a set of affirmative responsibilities to which the investigator must subscribe; behavior that is incompatible with these responsibilities should be presumed unethical, whether or not it is explicitly proscribed. This Task Force sought to present these standards as principles or guidelines. In undertaking research an investigator must accept that publicly funded or supported research is intended to yield public benefit; personal gain should be only incidental to and not at the expense of the public benefit.

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