Rare Pub Date : 2023-01-01 DOI: 10.1016/j.rare.2023.100005

Benjamín Gómez-Díaz , Edgar Oswaldo Zamora-González , Antonio Miranda-Duarte , Bladimir Roque-Ramírez , Norma Alejandra Vázquez-Cárdenas , Georgina Martínez-Gómez , Jhoana Martín del Campo , Erick Castillo-Jáuregui , Ángel Rafael Castro-Navarro , Antonio Marín-Cruz , Stephanie Rosas-Maldonado , Paulina Elizabeth Valdez-Anguiano , Reyna Araceli Barrera-López , Luz Berenice López-Hernández

{"title":"Assessing knowledge, perceptions, awareness and attitudes on rare diseases among health care providers and health students in Mexico","authors":"Benjamín Gómez-Díaz , Edgar Oswaldo Zamora-González , Antonio Miranda-Duarte , Bladimir Roque-Ramírez , Norma Alejandra Vázquez-Cárdenas , Georgina Martínez-Gómez , Jhoana Martín del Campo , Erick Castillo-Jáuregui , Ángel Rafael Castro-Navarro , Antonio Marín-Cruz , Stephanie Rosas-Maldonado , Paulina Elizabeth Valdez-Anguiano , Reyna Araceli Barrera-López , Luz Berenice López-Hernández","doi":"10.1016/j.rare.2023.100005","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100005","url":null,"abstract":"<div><p>Rare diseases (RDs) are serious and often fatal uncommon conditions with a high subjacent genetic origin. Since RD are not prevalent, knowledge regarding these diseases among health care providers and health students is scarce. The management of RD is often inadequate and precarious. Therefore, the aim of the present study is to assess the degree of knowledge, perceptions and attitudes of healthcare practitioners and students in Mexico. Herein we present a reliable questionnaire to assess the degree of knowledge, perceptions, awareness and attitudes of healthcare practitioners and students in Mexico with regard to RDs. The pilot study showed satisfactory levels of knowledge and significant differences in perceptions, awareness and attitudes among the study groups.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100005"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49881482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Initiating newborn screening for metabolic disorders in Pakistan: A qualitative study of the early challenges and opportunities 在巴基斯坦开展新生儿代谢紊乱筛查:早期挑战和机遇的定性研究

Rare Pub Date : 2023-01-01 DOI: 10.1016/j.rare.2023.100011

Muhammad Wasim , Haq Nawaz Khan , Hina Ayesha , Fazli Rabbi Awan

{"title":"Initiating newborn screening for metabolic disorders in Pakistan: A qualitative study of the early challenges and opportunities","authors":"Muhammad Wasim , Haq Nawaz Khan , Hina Ayesha , Fazli Rabbi Awan","doi":"10.1016/j.rare.2023.100011","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100011","url":null,"abstract":"<div><p>In multiple countries, newborn screening (NBS) initiatives have provided prevalence insights for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM in Pakistan, and none offer comprehensive population-based prevalence information. In response to this deficiency, our study surveyed specialized schools and care centers in Punjab (Faisalabad, Lahore), Pakistan, focused on children with intellectual disabilities (ID). Information from 409 ID children (n = 212 from Faisalabad and n = 197 from Lahore) suspected of IEM was collected. Our objective was to uncover biochemical and molecular underpinnings, ultimately revealing prevalence rates for Punjab, Pakistan. This report details our challenges engaging with affected children, parents, and school staff, emphasizing the potential of such efforts, despite resource limitations, to establish an IEM newborn screening program in Pakistan. By developing NBS program in Pakistan, it will help to minimize the burden of such IEM from the society.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100011"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295000872300011X/pdfft?md5=34a439ac7d9635e6b128fc6d5beb5ff8&pid=1-s2.0-S295000872300011X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92016177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cover 1/RARE 封面 1/罕见

Rare Pub Date : 2023-01-01 DOI: 10.1016/S2950-0087(23)00013-3

引用次数: 0

Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example 以歌舞伎综合征为例，以多学科临床和转化方法优化复杂和罕见疾病的管理

Rare Pub Date : 2023-01-01 DOI: 10.1016/j.rare.2023.100008

Leen Khalife , Rachel Gottlieb , Tara Daly , Xiaoting Ma , Asma Rashid , Bridget Funk , Emanuela Gussoni , Christina Hung , Olaf Bodamer

引用次数: 0

FM: Table of Contents 调频：目录

Rare Pub Date : 2023-01-01 DOI: 10.1016/S2950-0087(23)00015-7

引用次数: 0

Position paper of the undiagnosed diseases network international with respect to the establishment of the journal Rare-Open research in rare diseases 国际未确诊疾病网络关于建立罕见病开放期刊的立场文件

Rare Pub Date : 2023-01-01 DOI: 10.1016/j.rare.2023.02.002

William A. Gahl , Olaf Bodamer , Helene Cederroth , Roberto Giugliani , Eric Klee , Manuel Posada De La Paz , Olaf Horst Riess , Domenica Taruscio

引用次数: 0

Launching Rare 启动罕见

Rare Pub Date : 2023-01-01 DOI: 10.1016/j.rare.2023.02.001

Wendy A.G. van Zelst-Stams

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Cover 2: Editorial Board 封面 2：编辑委员会

Rare Pub Date : 2023-01-01 DOI: 10.1016/S2950-0087(23)00014-5

引用次数: 0

Clinical free text to HPO codes 临床免费文本到HPO代码

Rare Pub Date : 2023-01-01 DOI: 10.1016/j.rare.2023.100007

Gabrielle Stinton , Jane A. Lieviant , Sylvia Kam , Jiin Ying Lim , Jasmine Chew-Yin Goh , Weng Khong Lim , Gareth Baynam , Tele Tan , Duc-Son Pham , Saumya Shekhar Jamuar

{"title":"Clinical free text to HPO codes","authors":"Gabrielle Stinton , Jane A. Lieviant , Sylvia Kam , Jiin Ying Lim , Jasmine Chew-Yin Goh , Weng Khong Lim , Gareth Baynam , Tele Tan , Duc-Son Pham , Saumya Shekhar Jamuar","doi":"10.1016/j.rare.2023.100007","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100007","url":null,"abstract":"<div><p>Leveraging Artificial Intelligence (AI) within the rare disease diagnostic odyssey can facilitate a decrease in diagnostic times and an increase in diagnostic rates. Among the steps involved in the odyssey, this project focused on utilizing AI to automate the standardized capturing of clinical free text into Human Phenotype Ontology (HPO) codes. This research project was conducted at both the KK Women’s and Children’s Hospital (KKH), Singapore and the Rare Care Centre at Perth Children’s Hospital, Western Australia (WA), via the Curtin New Colombo Plan (NCP) Scholarship. The outcome of the project saw the development of a Streamlit web application that utilized two (2) pre-trained AI models – PhenoTagger and PhenoBERT – with a human-in-the-loop design. A case study conducted with ten (10) de-identified clinical reports demonstrated a reduction in the HPO extraction task time from ten (10) to twenty (20) minutes per report to less than five (5) minutes.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100007"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000078/pdfft?md5=dfbe25a04a0a3221c87b0b17f2bc30ba&pid=1-s2.0-S2950008723000078-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92016179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of medical students in advocacy for rare diseases – Experience from a Low- and Middle-Income Country (LMIC) 医学生在倡导罕见病方面的作用——来自低收入和中等收入国家的经验

Rare Pub Date : 2023-01-01 DOI: 10.1016/j.rare.2023.100004

Javeria Bilal Qamar , Muhammad Uzair , Shahnoor Ahmed , Hamna Ganny , Lena Jafri , Salman Kirmani

{"title":"The role of medical students in advocacy for rare diseases – Experience from a Low- and Middle-Income Country (LMIC)","authors":"Javeria Bilal Qamar , Muhammad Uzair , Shahnoor Ahmed , Hamna Ganny , Lena Jafri , Salman Kirmani","doi":"10.1016/j.rare.2023.100004","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100004","url":null,"abstract":"<div><p>2023 marks the Year of the Zebra, a year to celebrate hope for those with rare diseases. While each individual rare disease affects few, collectively everyone living with a rare disease makes up a total of over 300 million people worldwide. The annual celebration of rare disease day allows communities to advocate for visibility, inclusion and better healthcare for those with lesser well known conditions. Having a rare disease and living in a developing country like Pakistan, where quality healthcare is itself a rare commodity, predisposes those with rare diseases to many challenges. In this light, learning from patient journeys and advocating for rare diseases is a step in the right direction to better care. In this short communication, we share experiences from Pakistan of medical students spearheading one such effort as stakeholders in the care for rare. We also discuss the importance of teaching health advocacy as part of the medical education framework, helping nurture empathy in medical students, who we hope to be leaders of better care in the future.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"1 ","pages":"Article 100004"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49881484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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