Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100023

Diksha Goyal, Poonam Sherwani

引用次数: 0

Unfurling a case of encephalitis with Acanthamoeba after a near-drowning event 一起溺水事件后的棘阿米巴脑炎病例的展开

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100035

Debarup Das , Kuntal Biswas , Kokila Banerjee , Bhaswar Bhattacharya , Arijit Roy , Sumeeta Khurana , Atanu Biswas

{"title":"Unfurling a case of encephalitis with Acanthamoeba after a near-drowning event","authors":"Debarup Das , Kuntal Biswas , Kokila Banerjee , Bhaswar Bhattacharya , Arijit Roy , Sumeeta Khurana , Atanu Biswas","doi":"10.1016/j.rare.2024.100035","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100035","url":null,"abstract":"<div><p><em>Acanthamoeba</em> is a free-living ameba which is known to cause keratitis, encephalitis, and disseminated infections in human beings. Granulomatous amebic encephalitis (GAE) is classically seen in immunocompromised hosts. Here the authors present a patient with meningoencephalitis following accidental near drowning in a pond from eastern India which subsequently proved to be a case of <em>Acanthamoeba</em> associated encephalitis but presented acutely contrary to known literature. <em>Acanthamoeba</em> was seen in direct wet mount examination of Cerebrospinal fluid (CSF) samples and subsequently isolated by culture and detected by PCR (polymerase chain reaction) test. Magnetic Resonance imaging (MRI) showed multiple hemorrhagic infarcts with leptomeningeal enhancements. The unusual acute presentation by this rare infectious agent, CSF showing neutrophilic pleocytosis and grave prognosis in an apparently immunocompetent host make this case unique and noteworthy. <em>Acanthamoeba</em> related meningoencephalitis can be fatal if it’s not diagnosed early. <em>Acanthamoeba</em> as an etiological agent must be suspected even in immunocompetent hosts when there is a history of freshwater bathing or drowning.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100035"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000188/pdfft?md5=3f3f43223811d739b33c8b5275c27992&pid=1-s2.0-S2950008724000188-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141480986","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

Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment 进行性脱髓鞘儿童脑腺样体营养不良症：交流障碍评估

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100029

Mangal Chandra Yadav , Bhavani Venkatachalam , Akshay Parmar , M. Aparna Krishnan , Reheema Thasli , Sachchidanand Sinha

引用次数: 0

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant 斯奈德-罗宾逊综合征伴有学习障碍、癫痫和骨质疏松症：一种新型 SMS 基因变异

Rare Pub Date : 2023-12-13 DOI: 10.1016/j.rare.2023.100017

Megumi Leung , Meredith Sanchez-Castillo , Newell Belnap , Marcus Naymik , Anna Bonfitto , Jennifer Sloan , Katie Hassett , Wayne M. Jepsen , Aravind Sankaramoorthy , Tracy Murray Stewart , Jackson R. Foley , Sampathkumar Rangasamy , Matthew J. Huentelman , Vinodh Narayanan , Keri Ramsey

{"title":"Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant","authors":"Megumi Leung , Meredith Sanchez-Castillo , Newell Belnap , Marcus Naymik , Anna Bonfitto , Jennifer Sloan , Katie Hassett , Wayne M. Jepsen , Aravind Sankaramoorthy , Tracy Murray Stewart , Jackson R. Foley , Sampathkumar Rangasamy , Matthew J. Huentelman , Vinodh Narayanan , Keri Ramsey","doi":"10.1016/j.rare.2023.100017","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100017","url":null,"abstract":"<div><p>Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (<em>SMS</em>) gene (c.746 A>G, p.Tyr249Cys) in a male with kyphosis, seizures, and osteoporosis. His phenotype is unique in that he does not have intellectual disability (ID) but does have a mild learning disability. This case demonstrates a milder presentation of SRS and expands the phenotype beyond the reported literature.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100017"},"PeriodicalIF":0.0,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000170/pdfft?md5=6a571087b0d230cbb84c196fb7034cd9&pid=1-s2.0-S2950008723000170-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138656511","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

Measuring health-related quality of life in solid rare cancer patients: A study protocol 测量实体性罕见癌症患者的健康相关生活质量：研究方案

Rare Pub Date : 2023-12-04 DOI: 10.1016/j.rare.2023.100012

Catarina S. Padilla , Margot E.T. Tesselaar , Winette T.A. van der Graaf , Olga Husson

{"title":"Measuring health-related quality of life in solid rare cancer patients: A study protocol","authors":"Catarina S. Padilla , Margot E.T. Tesselaar , Winette T.A. van der Graaf , Olga Husson","doi":"10.1016/j.rare.2023.100012","DOIUrl":"https://doi.org/10.1016/j.rare.2023.100012","url":null,"abstract":"<div><p>Rare cancer patients often face delayed diagnosis and lack of expert care which are a challenge to clinical practice. Patients diagnosed with a rare tumour report poorer psychosocial outcomes and impaired health-related quality of life (HRQoL). The impairment might be explained by the challenges patients with rare cancer face during their disease trajectory. Specific HRQoL assessment is important to understand the variances in the quality of life patients experience. This study aims to examine how HRQoL is currently assessed in clinical adult solid rare cancer research and identify specific HRQoL issues patients experience and issues faced in the healthcare system due to the disease’s rarity. Further, this study aims to test the content validity of existing HRQoL questionnaires. In this mixed-method research, two literature reviews will be conducted, and clinical data will be collected worldwide in a multicentre approach via interviews and questionnaires. Basic quantitative analysis will be used to analyse patient and HCP data. The project outcomes will result in standards of the HRQoL measurement in patients diagnosed with a solid rare cancer.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100012"},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008723000121/pdfft?md5=befb5ae634ec37295b8d638b7ff79e8e&pid=1-s2.0-S2950008723000121-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138582434","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

Assessing knowledge, perceptions, awareness and attitudes on rare diseases among health care providers and health students in Mexico 评估墨西哥卫生保健提供者和卫生专业学生对罕见病的知识、观念、认识和态度

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

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