10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Background : In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007, most of these centers have entered the data for patients with developmental disorders into the CEMARA population-based registry, a national online data repository for all rare diseases. Through the CEMARA web portal, descriptive demographic data, clinical data, and the chronology of medical follow-up can be obtained for each center. We address the interest and ongoing challenges of this national data collection system 10 years after its implementation. Methods : Since 2007, clinicians and researchers have reported the “minimum dataset (MDS)” for each patient presenting to their expert center. We retrospectively analyzed administrative data, demographic data, care organization and diagnoses. Results : Over 10 years, 228,243 RD patients (including healthy carriers and family members for whom experts denied any suspicion of RD) have visited an expert center. Among them, 167,361 were patients affected by a RD (median age 11 years, 54% children, 46% adults, with a balanced sex ratio), and 60,882 were unaffected relatives (median age 37 years). The majority of patients (87%) were seen no more than once a year, and 52% of visits were for a diagnostic procedure. Among the 2,869 recorded rare disorders, 1,907 (66.5%) were recorded in less than 10 patients, 802 (28%) in 10 to 100 patients, 149 (5.2%) in 100 to 1,000 patients, and 11 (0.4%) in > 1,000 patients. Overall, 45.6% of individuals had no diagnosis and 6.7% had an uncertain diagnosis. Children were mainly referred by their pediatrician (46%; n = 55,755 among the 121,136 total children referrals) and adults by a medical specialist (34%; n = 14,053 among the 41,564 total adult referrals). Given the geographical coverage of the centers, the median distance from the patient’s home was 25.1 km (IQR = 6.3 km-64.2 km). Conclusions : CEMARA provides unprecedented support for epidemiological, clinical and therapeutic studies in the field of RD. Researchers can benefit from the national scope of CEMARA data, but also focus on specific diseases or patient subgroups. While this endeavor has been a major collective effort among French RD experts to gather large-scale data into a single database, it provides tremendous potential to improve patient care

The Rare Disease Person’s Card Implementation Strategy In Portugal

© 2015 Published by Elsevier B.V.The Rare Disease Person’s Card (RDPC) aims to identify and display information regarding rare diseases. It was created through a collaborative work between two major Portuguese heath care stakeholders, namely the Portuguese Ministry of Health Shared Services (SPMS) and Directorate General of Health (DGS), following EU resolutions. The card aims to identify the patient and the rare disease, as well as to display a text explaining the special needs in emergency situations. The disease is coded through the ORPHA code system. RDPC was implemented through the Health Data Sharing Platform. There are three distinct circuit phases in RDPC: requisition, activation and release. Patients use the Patient Portal in order to activate the card. Until March 16 2015, there were 828 cards requested regarding 738 different rare diseases. About 51% of requests were still waiting activation by patients. 16% of activated cards were awaiting approval and printing by the coordinator physician. 33% were sent to patient’s address, thereby completing the RDPC circle. The card is increasing awareness and empowerment of rare disease’s patients, pushing forward the project and improving Health care

The Rare Disease Person’s Card Implementation Strategy In Portugal

© 2015 Published by Elsevier B.V.The Rare Disease Person’s Card (RDPC) aims to identify and display information regarding rare diseases. It was created through a collaborative work between two major Portuguese heath care stakeholders, namely the Portuguese Ministry of Health Shared Services (SPMS) and Directorate General of Health (DGS), following EU resolutions. The card aims to identify the patient and the rare disease, as well as to display a text explaining the special needs in emergency situations. The disease is coded through the ORPHA code system. RDPC was implemented through the Health Data Sharing Platform. There are three distinct circuit phases in RDPC: requisition, activation and release. Patients use the Patient Portal in order to activate the card. Until March 16 2015, there were 828 cards requested regarding 738 different rare diseases. About 51% of requests were still waiting activation by patients. 16% of activated cards were awaiting approval and printing by the coordinator physician. 33% were sent to patient’s address, thereby completing the RDPC circle. The card is increasing awareness and empowerment of rare disease’s patients, pushing forward the project and improving Health care

A Case Study at Rumah Cemara Indonesia

학위논문(석사)--서울대학교 대학원 :사범대학 체육교육과,글로벌스포츠매니지먼트전공,2019. 8. 권순용.Sport for Development initiative is on the rise, which aims at overcoming various social issues in the world. Recently, attention to the role of sport for marginalized people has been widely studied, and several studies have investigated the relationship among sport, homelessness, drug user, people with HIV and poverty. One of the sport events that has considered these issues is the Homeless World Cup (HWC). A few years ago, Manchester United made a contract with a homeless player, named Bebe, who had been selected as a player of Homeless World Cup (HWC) to represent Portugal. He got the chances to change and develop his life through the HWC program. This HWC program has contributed to improve the motivation of marginalized people (such as homeless people) to develop their life. Therefore, the purpose of this study is to understand the experiences of Indonesia HWC players, the value of being a Player in the tournament and the influence of players' participation in the HWC toward social change. It employs a qualitative methodology and in-depth interviews were utilized to collect data. Nine players and six administrators including manager, coaches and staff were selected as research participants. However, most studies related to the HWC program seem to emphasize the outcomes. In meaning that it is necessary to examine how the players were motivated to change their life. For that reason, this study also investigates the motivation of players involved in the HWC program and finds out what experiences they had during their involvement as a player. Also, this study has approached sport for development with theoretical approach. Hence, the aim of this study is to understand the value of the HWC for participants Furthermore, this study seeks to investigate the role of experiences as a player on social change. This thesis proposes the understanding that sport as the development of capabilities is beneficial, not only for people in general, but also for marginalized people. Therefore, in the future, this study can be realized as the potential study to better understanding sport as a tool for future development goals.Acknowledgement i Abstract iii Table of Contents vi List of Tables x Chapter 1. Introduction 1 1.1.Background 1 1.1.2. Sport and Homelessness in Indonesia 3 1.2. Statement of Problem 7 1.3. Significance of Study 9 1.4. Purpose of Research 11 1.5. Research Questions 11 Chapter 2. Review of Literature 12 2.1. Theoritical Review 12 2.1.1. Definition and Perspective of Homelessness 14 2.1.2. Causes of Homelessness 17 2.1.3. Solutions and Homelessness Models 18 2.1.4. Social Capital Theory 23 2.1.5. The Case at Rumah Cemara Indonesia 26 2.1.6. Homeless World Cup (HWC) 27 2.1.7 Related Research 28 Chapter 3. Methodology 31 3.1. Research Method 31 3.1.1 Qualitative Methodology 31 3.2 Data Collection 33 3.2.1. Interview 33 3.2.2 Research Participants 36 3.2.2.1 Description of Research Participants 36 3.3 Procedure 42 3.4. Data Analysis Method 42 3.5. Strategies validating findings 45 3.6. Ethical Consideration 46 Chapter 4. Findings 48 4.1. Indonesia Homeless World Cup (HWC) Players Experiences 49 4.1.1 Being Introduced to the Homeless World Cup 50 A. Eliminating Stigma & Discrimination 53 B. Going by a Plane for the First Time and Going Abroad 54 C. Changing Life 56 D. Former Players Influence 56 E. Making Family Members and Friends Proud 57 4.1.2 During the Program (Experiences) 58 A. Selection 59 B. Training Camp 61 1. Educational Class 62 2. Daily Street-soccer Training 63 3. Mountain Survival 64 4. Sharing Group 65 C. Homeless World Cup (HWC) Tournament 66 1. Singing National Anthem 67 2. Social Interaction Among Players and Officials 68 3. Matches 70 4. Welcomed by Embassy 71 5. Media Expose 72 4.2 The Value of Participation in the Homeless World Cup (HWC) 72 A. Viewing Homeless World Cup (HWC) as a Chance to Change People Perspective 73 B. Turning Point 75 C. Homeless World Cup (HWC) as a Tool to Inspire the Community (Role Model) 77 D. Sharing Experiences 79 4.3 The HWC Experiences for Social Change 82 A. Social Capital 82 B. Economic Capital 86 C. Cultural Capital 90 Chapter 5. Discussion 94 Chapter 6. Conclusions & Sugesstions 100 6.1 Conclusions 100 6.2 Suggestions 106 Bibliography 108 Appendix A 114 Appendix B 118 Appendix C 121 초록 124Maste

Traditionaly utilization of Selaginella; field research and literature review

Setyawan AD. 2009. Traditionaly utilization of Selaginella; field research and literature review. Nusantara Bioscience 1: 146-154. The aims of this research were to find out traditional usage of Selaginella in medication and its other usages, especially in Java and other Indonesian Archipelago. About 200 of 700-750 world species of Selaginella was found in Indonesian Archipelago. Field research and literature review indicated that Selaginella is used traditionally to heal wound, bloody stools, internal hemorrhoid bleeding, menstrual and uterine discomfiture, blood expediting, enhancing body endurance and longevity of live, headache, etc. Besides that some of Selaginellas are also used as raw dishes vegetable, ornamental pants, base materials and crafts. The utilization of Selaginella is very little against its amount of species and medicinal potency, so it is needed an advance study on ethnobotany and phytochemistry to improve its uses. Key word: traditional medicines, herbal, ethnobotany, Selaginella

Benefits and risks of grouper sea-ranching in Karimunjawa National Park, Indonesia

The high economic value of groupers caused fishermen to increase their effort, and as a consequence groupers are often heavily exploited. Several solutions have been implemented to solve this problem such as stock enhancement. The objective of this study was to examine the potentials and risks of grouper stock enhancement activities in Indonesia. The research was conducted in Karimunjawa Islands, Indonesia. To address the objectives, a fish length estimate underwater study, grouper stock assessment, grouper release experiment and monitoring the impact of the released fish were conducted

Frequency-based rare diagnoses as a novel and accessible approach for studying rare diseases in large datasets: a cross-sectional study

BACKGROUND Up to 8% of the general population have a rare disease, however, for lack of ICD-10 codes for many rare diseases, this population cannot be generically identified in large medical datasets. We aimed to explore frequency-based rare diagnoses (FB-RDx) as a novel method exploring rare diseases by comparing characteristics and outcomes of inpatient populations with FB-RDx to those with rare diseases based on a previously published reference list. METHODS Retrospective, cross-sectional, nationwide, multicenter study including 830,114 adult inpatients. We used the national inpatient cohort dataset of the year 2018 provided by the Swiss Federal Statistical Office, which routinely collects data from all inpatients treated in any Swiss hospital. Exposure: FB-RDx, according to 10% of inpatients with the least frequent diagnoses (i.e.1.decile) vs. those with more frequent diagnoses (deciles 2-10). Results were compared to patients having 1 of 628 ICD-10 coded rare diseases. PRIMARY OUTCOME In-hospital death. SECONDARY OUTCOMES 30-day readmission, admission to intensive care unit (ICU), length of stay, and ICU length of stay. Multivariable regression analyzed associations of FB-RDx and rare diseases with these outcomes. RESULTS 464,968 (56%) of patients were female, median age was 59 years (IQR: 40-74). Compared with patients in deciles 2-10, patients in the 1. were at increased risk of in-hospital death (OR 1.44; 95% CI: 1.38, 1.50), 30-day readmission (OR 1.29; 95% CI 1.25, 1.34), ICU admission (OR 1.50; 95% CI 1.46, 1.54), increased length of stay (Exp(B) 1.03; 95% CI 1.03, 1.04) and ICU length of stay (1.15; 95% CI 1.12, 1.18). ICD-10 based rare diseases groups showed similar results: in-hospital death (OR 1.82; 95% CI 1.75, 1.89), 30-day readmission (OR 1.37; 95% CI 1.32, 1.42), ICU admission (OR 1.40; 95% CI 1.36, 1.44) and increased length of stay (OR 1.07; 95% CI 1.07, 1.08) and ICU length of stay (OR 1.19; 95% CI 1.16, 1.22). CONCLUSION(S) This study suggests that FB-RDx may not only act as a surrogate for rare diseases but may also help to identify patients with rare disease more comprehensively. FB-RDx associate with in-hospital death, 30-day readmission, intensive care unit admission, and increased length of stay and intensive care unit length of stay, as has been reported for rare diseases

Traditionally utilization of Selaginella; field research and literature review

Penelitian ini bertujuan untuk mengetahui manfaat Selaginella dalam pengobatan tradisional dan pemanfaatan lainnya, melalui penelitian lapangan dan telaah pustaka, khususnya di Jawa dan Kepulauan Nusantara. Sebanyak 200 dari 700-750 spesies Selaginella hadir di Kepulauan Nusantara. Secara tradisional Selaginella digunakan untuk mengobati luka, pendarahan, gangguan menstruasi dan kandungan, memperlancar peredaran darah, meningkatkan daya tahan tubuh, memperpanjang usia, mengobati sakit kepala dan lain-lain. Di samping itu beberapa jenis Selaginella juga digunakan sebagai sayuran (lalapan), tanaman hias, dan bahan baku kerajinan tangan. Pemanfaatan Selaginella sangat terbatas dibanding jumlah jenis dan potensi manfaat obatnya, sehingga diperlukan kajian etnobotani dan fitokimia lebih mendalam untuk meningkatkan pemanfaatannya. Kata kunci: obat tradisional, tanaman obat, etnobotani, Selaginella, Jawa

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

Contains fulltext : 89406.pdf (publisher's version ) (Closed access)PURPOSE: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities. METHODS: The consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case-parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study. Questionnaires inquiring about circumstances before and during pregnancy will be used to obtain environmental risk factor data. RESULTS: Currently, 701 ARM cases have been recruited throughout Europe. Clinical data are available from all cases, and DNA samples and questionnaire data mainly from the Dutch and German cases. Preliminary analyses on environmental risk factors in the Dutch and German cohort found associations between ARM and family history of ARM, fever during first trimester of pregnancy and maternal job exposure to cleaning agents and solvents. CONCLUSION: First results show that both genetic and environmental factors may contribute to the multifactorial etiology of ARM. The International Consortium on Anorectal Malformations will provide possibilities to study and detect important genes and environmental risk factors for ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention.1 november 201