There is a lack of knowledge of disease course, prognosis, comorbidities and potential treatments of elderly MS patients. To characterize the disease course including disability progression and relapses, to quantify the use of DMTs and to identify comorbidities and risk factors for progression in elderly multiple sclerosis (MS) patients. This is a retrospective study of 1200 Austrian MS patients older than 55years as of May 1st, 2017 representing roughly one-third of all the MS patients of this age in Austria. Data were collected from 15 MS centers including demographics, first symptom at onset, number of relapses, evolvement of disability, medication, and comorbidities. Median observation time was 17.1years with 957 (80%) relapsing and 243 (20%) progressive onsets. Average age at diagnosis was 45years with a female predominance of 71%. Three-hundred and twenty-six (27%) patients were never treated with a DMT, while most treated patients received interferons (496; 41%) at some point. At last follow-up, 420 (35%) patients were still treated with a DMT. No difference was found between treated and never-treated patients in terms of clinical outcome; however, patients with worse disability progression had significantly more DMT switches. Pyramidal onset, number of comorbidities, dementia, epilepsy, and psychiatric conditions as well as a higher number of relapses were associated with worse outcome. The risk of reaching EDSS 6 rose with every additional comorbidity by 22%. In late and very-late-onset MS (LOMS, VLOMS) time to diagnosis took nearly twice the time compared to adult and early onset (AEOMS). The overall annualized relapse rate (ARR) decreased over time and patients with AEOMS had significantly higher ARR compared to LOMS and VLOMS. Four percent of MS patients had five medications or more fulfilling criteria of polypharmacy and 20% of psychiatric drugs were administered without a matching diagnosis. In this study, we identified number of comorbidities, pyramidal and cerebellar signs, and a higher number of relapses as unfavorable prognostic factors in elderly MS patients filling gaps of knowledge in patients usually underrepresented in clinical trials and may guide future therapeutic studies.

Gender-related differences in career development are well known issues in various professions. An international survey on gender-related differences was performed among young gynecologic oncology surgeons in Europe to identify potential gender inequalities in career development. A survey on demographics, clinical and academic working environment, family/parenting, career development, salary and leadership was sent to all members of the European Network of Young Gynecologic Oncologists (ENYGO), which is a network within the European Society of Gynecologic Oncology (ESGO). Gynecologic oncology surgeons and obstetricians/gynecologists who actively work in this field in Europe were included in the study. Responses were analyzed from 192 gynecologic oncology surgeons of whom 65.1% (125/192) were female (median age 37, IQR: 34 - 42) and 34.9% (67/192) were male (median age 38, IQR: 36 - 41). Male reported to perform a median of 15 and female a median of 10 operations per month (p = .007). Among female, 24.8% had a leadership position vs. 44.8% among male, crude OR = 2.46, 95% CI 1.31-4.62, p<.01. When stratifying for age under 41 and having children, 36.7% of male and 5.6% of female had a leadership position, adjusted OR 10.8, 95% CI 3.28-35.64, p<.001.A significantly higher proportion of female compared to male believed they earned less than their gender counterparts at the same clinical position and with same qualifications (30.4% vs. 2.5%, p<.001). There was not a statistically significant gender difference in the academic qualification PhD degree or professorship (p = .92 and p = .64, respectively). In the previous year, male published more peer-reviewed articles than female (median 3 vs. median 2; p = .017). This first comprehensive survey on gender-differences in gynecologic oncology in Europe revealed that there are gender gaps concerning several aspects during the critical time of career development in the young generation of gynecologic oncology surgeons. These gender gaps are particularly reflected by a lower rate of female leadership positions. ENYGO and ESGO are dedicated to work on solution to overcome the identified obstacles and to support closing gender gaps.

Heterozygous deletions at 19q12-q13.11 affecting TSHZ3, the teashirt zinc finger homeobox 3, have been associated with intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT), and postnatal growth retardation in humans and mice. TSHZ3 encodes a transcription factor regulating the development of neurons but is ubiquitously expressed. Using exome sequencing, we identified a heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in TSHZ3 in a 7-year-old girl with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis. The variant was present on the paternal TSHZ3 allele. The DNA from the father was not available for testing. This is the first report of a heterozygous point mutation in TSHZ3 causing the same phenotype as reported for monoallelic deletions in the same region. This confirms TSHZ3 as a novel disease gene for neurodevelopmental disorder in combination with behavioural issues and CAKUT.

South African educational institutions are confronted by a myriad of new policies,legislation and qualification frameworks, resulting in extensive transformation of theSouth African educational landscape. This article explores the effect that the pursuitof transformation objectives is having on communication training and education atuniversities and technikons. A number of transformation priorities for communicationeducation and training is also identified.

BackgroundCongenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted.MethodsWe used a nationwide approach to collect Austrian patients with genetically confirmed CMS. We provide a clinical and molecular characterization of this cohort and aimed to ascertain the current frequency of CMS in Austria.ResultsTwenty-eight cases with genetically confirmed CMS were identified, corresponding to an overall prevalence of 3.1 per million (95% CI 2.0–4.3) in Austria. The most frequent genetic etiology was CHRNE (n = 13), accounting for 46.4% of the cohort. Within this subgroup, the variant c.1327del, p.(Glu443Lysfs*64) was detected in nine individuals. Moreover, causative variants were found in DOK7 (n = 4), RAPSN (n = 3), COLQ (n = 2), GMPPB (n = 2), CHAT (n = 1), COL13A1 (n = 1), MUSK (n = 1) and AGRN (n = 1). Clinical onset within the first year of life was reported in one half of the patients. Across all subtypes, the most common symptoms were ptosis (85.7%), lower limb (67.9%), upper limb (60.7%) and facial weakness (60.7%). The majority of patients (96.4%) received specific treatment, including acetylcholinesterase inhibitors in 20, adrenergic agonists in 11 and 3,4-diaminopyridine in nine patients.ConclusionsOur study presents the first systematic characterization of individuals with CMS in Austria, providing prevalence estimates and genotype–phenotype correlations that may help to improve the diagnostic approach and patient management.

The Limits to Growth was published 50 years ago. Ordered by the Club of Rome, the study was a milestone in the analysis of the economic, demographic, technical and ecological effects of the existing economic system. In industrialised Western countries in particular, the critical examination of the development model of continuous economic growth led to a broad discussion about the far-reaching implications of a global economy focusing on growth, on a planet with finite natural resources.

Additive manufacturing technologies such as screen, inkjet, and three-dimensional (3D) printing of various conductive, nonconductive, and specifically engineered materials can be beneficially employed to fabricate diverse electronic systems such as sensors, actuators, and batteries. By employing these technologies, such systems can be fabricated highly specialized and individualized while still being comparably inexpensive. The high degree of specialization has recently led to an increased aim to reduce system complexity while still achieving the desired functionality. To this end, 4D-printing is an advantageous approach since it results in systems that can be externally controlled through specific environmental stimuli (temperature, humidity, light, etc.) without the necessity of solid-state circuitry and control algorithms. This chapter deals with functionalized sensor systems based on additive fabrication technologies and their combinations. An outline of how these can be beneficially applied to robotics and wearable medical applications for human-device interfaces is given together with an outlook into the developments toward 4D-printing and promising future applications.