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The ineffectiveness of many gamification projects can be attributed to wrong decisions made during the conceptual design phase, especially in the selection of game design elements. This paper introduces a data driven method of creating a gamification pattern language similar to software design patterns to help gamification designers select such elements. Thanks to modern machine learning technologies such a pattern language can be based on a comprehensive empirical analysis to assess the actual use of game design elements in games. This paper is the first report on an ongoing research project that has been carried out since the beginning of 2017 in cooperation with the German Games Archive to extract game design elements from more than 30,000 board games using machine learning techniques. Initial tests based on support vector classification and 4,000 games show that game design elements can be reliably identified with accuracy rates between 80 and 90%.

Introduction: In the 52-week, Phase III DELOS study, idebenone slowed the rate of respiratory function loss and decreased respiratory complications; however, data beyond one year is limited. Aims and Objectives: To evaluate the effect of long-term idebenone treatment on reducing the frequency of respiratory complications in a real world study. Methods: SYROS is a real-world study in 18 former DELOS patients who transitioned to idebenone under Expanded Access Programs following a variable untreated period. Patients were managed according to routine clinical practice. Data on time to clinically relevant worsening (defined as time to first relative decline of at least 10% in FVC percent predicted (%p) from baseline), frequency of bronchopulmonary adverse events (BAEs), hospitalizations and systemic antibiotic use were collected. Comparisons were made between treated and untreated periods. Results: Patients were treated for an average (min-max) of 4.5 (2.4–7.2) years, versus 2.0 (0.7–5.5) untreated years. There was a 56% risk reduction in time to a first 10% FVC%p decline. The risk of BAEs was reduced by 72% comparing treated versus untreated periods, leading to fewer hospitalizations due to respiratory causes (0.06 vs 0.15 events per year), and fewer occurences of systemic antibiotic use (0.04 vs 0.15 events per year). Conclusion: Real-world data suggests maintaining treatment with idebenone continues to slow respiratory function decline in patients with DMD, in turn reducing the occurence and severity of clinically relevant pulmonary morbidity.

Exon skipping is a novel, mutation-specific approach to treating patients with Duchenne muscular dystrophy (DMD). Phosphorodiamidate morpholino oligomers are nucleic acid analogues that selectively redirect pre-mRNA splicing to enable production of internally truncated dystrophin.In exon 51 skipping (eteplirsen; n=36) and exon 53 skipping (golodirsen; n=25) clinical studies, internally shortened dystrophin mRNA was observed in all treated patients (per reverse transcription polymerase chain reaction). Eteplirsen increased dystrophin expression 15.5-fold, 11.6-fold, and 2.4-fold vs untreated controls (percent dystrophin-positive fibres, Western blot, and immunohistochemistry intensity, respectively; all, p≤0.007) in a 180 week study, and 2.8-fold (Western blot; p=0.008) in a 48 week study. Golodirsen increased dystrophin expression 10.7-fold (Western blot) over baseline following 48 weeks of treatment. Over 4 years, versus comparable external controls, eteplirsen slowed ambulatory decline (6 min walk test difference, 165 m; p=0.001) and cumulative risk of losing ambulation (83% vs 17%). In 2 clinical studies that included non-ambulatory patients, eteplirsen slowed pulmonary decline versus natural history data (assessed by spirometry).Eteplirsen and golodirsen demonstrated clinical and biochemical effects in patients with DMD; ongoing studies of these compounds are further characterising their effects in various patient populations.

Supplemental data. (DOCX 1029Â kb)

Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical heterogeneity, posing considerable challenges for patients, physicians, and researchers. We report on the genetic findings from a systematic study of a large collection of 174 independent ARCMT families. Initial sequencing of the three most common ARCMT genes (ganglioside-induced differentiation protein 1-GDAP1, SH3 domain and tetratricopeptide repeats-containing protein 2-SH3TC2, histidine-triad nucleotide binding protein 1-HINT1) identified pathogenic mutations in 41 patients. Subsequently, 87 selected nuclear families underwent single nucleotide polymorphism (SNP) genotyping and homozygosity mapping, followed by targeted screening of known ARCMT genes. This strategy provided molecular diagnosis to 22 % of the families. Altogether, our unbiased genetic approach identified pathogenic mutations in ten ARCMT genes in a total of 41.3 % patients. Apart from a newly described founder mutation in GDAP1, the majority of variants constitute private molecular defects. Since the gene testing was independent of the clinical phenotype of the patients, we identified mutations in patients with unusual or additional clinical features, extending the phenotypic spectrum of the SH3TC2 gene. Our study provides an overview of the ARCMT genetic landscape and proposes guidelines for tackling the genetic heterogeneity of this group of hereditary neuropathies.

Gating procedures for cytofluorometric labeling of CD49d in freshly isolated leukocytes from the blood of normal subjects and Duchenne muscular dystrophy patients. (DOC 108 kb)

General characteristics of the DMD patients enrolled in the study of blood samples. (DOC 35 kb)

The invention relates to a cosmetic composition comprising a liquid phase and PVD aluminium pigment, wherein the cosmetic composition comprises PVD aluminium pigment in a pigmentation level of 0.05 to 5.0% by weight based on the total weight of the cosmetic composition, and at least one leafing additive. The invention further relates to an artificial fingernail and to the use of PVD aluminium pigment.

Lack of differences between DMD patients and healthy control in relative numbers of CD14/CD49dhi and CD19/CD49dhi cells. (DOC 69 kb)

Higher numbers of CD49dhi T cells in fast, but not in slow, progressors DMD patients correlate with disease severity. (DOC 59 kb)

Age-related features of DMD patients enrolled in the evaluation of muscle biopsies. (DOC 37 kb)

Antibodies applied in cytofluorometry and immunohistochemistry. (DOC 57 kb)

Age-related features of DMD patients enrolled in the evaluation of muscle biopsies. (DOC 37 kb)

Ex vivo anti-CD49d antibody treatment blocks lymphocyte-myotube adhesion in DMD patients. (DOC 520 kb)

Higher numbers of CD49dhi T cells in fast, but not in slow, progressors DMD patients correlate with disease severity. (DOC 59 kb)

Antibodies applied in cytofluorometry and immunohistochemistry. (DOC 57 kb)

Lack of differences between DMD patients and healthy control in relative numbers of CD14/CD49dhi and CD19/CD49dhi cells. (DOC 69 kb)

Gating procedures for cytofluorometric labeling of CD49d in freshly isolated leukocytes from the blood of normal subjects and Duchenne muscular dystrophy patients. (DOC 108 kb)

General characteristics of the DMD patients enrolled in the study of blood samples. (DOC 35 kb)

Duisburg, Essen, Univ., Diss., 2003

Essen, Univ., Diss., 2002