Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits.MethodsClinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations.ResultsWe identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population.ConclusionWe suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup

The Economics of a Multilateral Investment Agreement

This paper models a multilateral agreement on investment (MAI) as a coordination device. Multinational enterprises can invest in any number of countries. Without a multilateral investment agreement, expropriation triggers an investment stop by the single MNE. Under a multilateral agreement, expropriation leads to a joint reaction by all MNEs. Switching to such a regime increases worldwide FDI and raises the world interest rate. Distinguishing three groups of countries, we show that industrialized countries experience an outflow of capital but benefit overall due to an increase in repatriated profits. Middle income countries are likely to gain from increased inward FDI, whereas least developed countries lose because they receive less FDI. Our results explain the stylized fact that a multilateral investment agreement was opposed by least developed nations and certain groups in rich countries

Global Anesthesia Workforce Crisis: A Preliminary Survey Revealing Shortages Contributing to Undesirable Outcomes and Unsafe Practices

BACKGROUND. The burden of disease, disability, and mortality that could be averted by surgery is growing. However, few low and middle income countries (LMICs) have the infrastructure or capacity to provide surgical services to meet this growing need. Equally, few of these countries have been assessed for key infrastructural capacity including surgical and anesthesia providers, equipment, and supplies. These assessments are critical to revealing magnitude of the evolving surgical and anesthesia workforce crisis, related morbidity and mortality, and necessary steps to mitigate the impact of the crisis. METHODS. A pilot Internet-based survey was conducted to estimate per-capita anesthesia providers in LMICs. Information was obtained from e-mail respondents at national health care addresses, and from individuals working in-country on anesthesia-related projects. RESULTS. Workers from 6 of 98 countries responded to direct e-mail inquiries, and an additional five responses came from individuals who were working or had worked in-country at the time of the survey. The data collected revealed that the per-capita anesthesia provider ratio in the countries surveyed was often 100 times lower than in developed countries. CONCLUSIONS. This pilot study revealed that the number of anesthesia providers available per capita of population is markedly reduced in low and lower middle income countries compared to developed countries. As anesthesia providers are an integral part of the delivery of safe and effective surgical care, it is essential that more data is collected to fully understand the deficiencies in workforce and capacity in low and middle income countries

COVID-19 in German Competitive Sports: Protocol for a Prospective Multicenter Cohort Study (CoSmo-S)

Objective: It is unclear whether and to what extent COVID-19 infection poses health risks and a chronic impairment of performance in athletes. Identification of individual health risk is an important decision-making basis for managing the pandemic risk of infection with SARS-CoV-2 in sports and return to play (RTP). Methods: This study aims 1) to analyze the longitudinal rate of seroprevalence of SARSCoV- 2 in German athletes, 2) to assess health-related consequences in athletes infected with SARS-CoV-2, and 3) to reveal effects of the COVID-19 pandemic in general and of a cleared SARS-CoV-2 infection on exercise performance. CoSmo-S is a prospective observational multicenter study establishing two cohorts: 1) athletes diagnosed positive for COVID-19 (cohort 1) and 2) federal squad athletes who perform their annual sports medical preparticipation screening (cohort 2). Comprehensive diagnostics including physical examination, laboratory blood analyses and blood biobanking, resting and exercise electrocardiogram (ECG), echocardiography, spirometry and exercise testing added by questionnaires are conducted at baseline and follow-up. Results and Conclusion: We expect that the results obtained, will allow us to formulate recommendations regarding RTP on a more evidence-based level

Tuberculosis in Pediatric Antiretroviral Therapy Programs in Low- and Middle-Income Countries: Diagnosis and Screening Practices

Background The global burden of childhood tuberculosis (TB) is estimated to be 0.5 million new cases per year. Human immunodeficiency virus (HIV)-infected children are at high risk for TB. Diagnosis of TB in HIV-infected children remains a major challenge. Methods We describe TB diagnosis and screening practices of pediatric antiretroviral treatment (ART) programs in Africa, Asia, the Caribbean, and Central and South America. We used web-based questionnaires to collect data on ART programs and patients seen from March to July 2012. Forty-three ART programs treating children in 23 countries participated in the study. Results Sputum microscopy and chest Radiograph were available at all programs, mycobacterial culture in 40 (93%) sites, gastric aspiration in 27 (63%), induced sputum in 23 (54%), and Xpert MTB/RIF in 16 (37%) sites. Screening practices to exclude active TB before starting ART included contact history in 41 sites (84%), symptom screening in 38 (88%), and chest Radiograph in 34 sites (79%). The use of diagnostic tools was examined among 146 children diagnosed with TB during the study period. Chest Radiograph was used in 125 (86%) children, sputum microscopy in 76 (52%), induced sputum microscopy in 38 (26%), gastric aspirate microscopy in 35 (24%), culture in 25 (17%), and Xpert MTB/RIF in 11 (8%) children. Conclusions Induced sputum and Xpert MTB/RIF were infrequently available to diagnose childhood TB, and screening was largely based on symptom identification. There is an urgent need to improve the capacity of ART programs in low- and middle-income countries to exclude and diagnose TB in HIV-infected childre

TTIP – Problems and Opportunities

2016 soll das Abkommen zur Transatlantischen Handels- und Investitionspartnerschaft abgeschlossen werden. Die Befürworter von TTIP sind der Auffassung, dass gemeinsame Regeln, Industriestandards und Zulassungsverfahren von EU und USA zu Weltstandards werden können und den beteiligten Ländern entscheidende Vorteile bringen. Kritik bezieht sich nicht nur auf die mangelnde Transparenz des Verhandlungsprozesses, sondern vor allem auf die Handhabung von Umweltstandards und öffentlichen Aufträgen sowie auf die Arbeitsmarktregulierung, die Lebensmittelgesetze und die Investitionsschutzabkommen.The Transatlantic Trade and Investment Partnership is the most important trade policy decision that European leaders have faced in many years. The new generation of free trade agreements, including TTIP, aim at deep economic integration. Thus, they are essentially focused upon the removal or alignment of standards, regulations and administrative procedures that impede international trade and investment. Therefore, TTIP goes beyond the dimensions of traditional preferential trade agreements in the sense that it not only concerns tariffs and non tariff barriers to trade in goods, but it also concerns trade in services and the foreign investment environment. Regulatory cooperation under TTIP might thus well extend into core domains of public policy, including health and food safety or environmental regulation. Regulation, however, confers both benefits and costs to society. A proper assessment of TTIP must therefore also consider the benefits of regulation to society and must embed regulatory cooperation between the EU and US into a firm democratic framework. The potential of such an agreement is substantial, due to improved market access, regulatory cooperation and greater global reach, while the downside risk is limited. While some of the arguments critical of TTIP are justified, others seem rather excessive and seem intent on stirring up unnecessary anxiety among the population. An objective and constructive discussion is crucial to ensure that the needs of the population are heard during the negotiation process and that an agreement capable of achieving majority support can be concluded. The debate over TTIP has to consider not only the economic effects of increased trade but also the legal and political dimensions of the trade agreement