Translational science of rare diseases最新文献

Association between vitamin D receptor (APAI rs7975232) genotypes and vitamin D serum levels in Iraqi multiple sclerosis patients 伊拉克多发性硬化症患者维生素 D 受体（APAI rs7975232）基因型与维生素 D 血清水平之间的关系

Translational science of rare diseases Pub Date : 2024-03-29 DOI: 10.3233/trd-230064

Zahraa Kadhim Lafi, Bushra Jasim Mohammed

{"title":"Association between vitamin D receptor (APAI rs7975232) genotypes and vitamin D serum levels in Iraqi multiple sclerosis patients","authors":"Zahraa Kadhim Lafi, Bushra Jasim Mohammed","doi":"10.3233/trd-230064","DOIUrl":"https://doi.org/10.3233/trd-230064","url":null,"abstract":"BACKGROUND: Multiple sclerosis (MS) is a long-term condition characterized by chronic inflammation, damage to the myelin sheath, and progressive nerve cell degeneration. It is a heterogeneous and multifactorial disease. The aim of the present investigation was to analyze the connection between variations in the vitamin D receptor gene. (APAI rs7975232) and vitamin D serum levels among MS patients. METHODS: Blood samples were collected from 75 Iraqi patients with MS (33 male, 42 female), and 75 control group volunteers who appeared to be in good health with an age range of 20–50 years. Vitamin D receptor (VDR) gene polymorphism was detected by HRM RT-PCR and vitamin D serum levels were assessed by ELISA. RESULTS: Detection of VDR gene polymorphism in MS patients discovered that the wild genotype was C/C 15 (20%), the heterozygous genotype CA was 27(36%), and the homozygous genotype AA was 33(44%), whilst allele C occurrence was 57(38%) and allele A was 93(62%), compared per control genotype C/C was 40(53.3%), CA genotype was 20(26.6%), AA genotype was 15(20%), C allele frequency was 100(66.6%) and A allele was 50(33.3%) with highly significant difference (P≤0.001). Analysis of vitamin D serum levels showed much higher levels in the control group (43.40±0.85 pg/ml) than in the MS patients group (15.46±0.93 pg/ml; P≤0.001). Result of relationship between Vitamin D serum level with genotype of VDR among individuals with MS was found to be significant decrease (5.3±0.52) at AA genotype of MS patients, followed by (11.79±0.68) in CA genotype and finally (15.52±0.93) in CC genotype, all highly significant (P≤0.01). CONCLUSION: There was a notable correlation observed with VDR (APAI rs7975232) genotypes and Vitamin D serum level in MS Iraqi patients.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"81 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140366512","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

2023 IRSF Rett Syndrome Scientific Meeting June 5-7, 2023, Nashville, Tennessee, USA 2023年IRSF Rett综合征科学会议2023年6月5日至7日，美国田纳西州纳什维尔

Translational science of rare diseases Pub Date : 2023-08-29 DOI: 10.3233/trd-230063

Nupur Garg, Zhaolan Zhou, Eric D Marsh, Colleen M. Niswender, Dominique C. Pichard

引用次数: 0

Autism – A brief update 自闭症——简要更新

Translational science of rare diseases Pub Date : 2023-07-13 DOI: 10.3233/trd-230058

O. Skjeldal, Jørn Isaksen

引用次数: 0

Editorial: Translational Science of Rare 1 Diseases 社论：罕见病转化科学

Translational science of rare diseases Pub Date : 2023-07-05 DOI: 10.3233/trd-230061

A. Percy, R. Gopal‐srivastava

引用次数: 0

Cannabis for medicinal use in patients with rare diseases 罕见病患者药用大麻

Translational science of rare diseases Pub Date : 2023-06-12 DOI: 10.3233/trd-230060

Jekaterina Parovincaka, Janis Vella Szijj, A. Serracino-Inglott, L. Azzopardi

{"title":"Cannabis for medicinal use in patients with rare diseases","authors":"Jekaterina Parovincaka, Janis Vella Szijj, A. Serracino-Inglott, L. Azzopardi","doi":"10.3233/trd-230060","DOIUrl":"https://doi.org/10.3233/trd-230060","url":null,"abstract":"BACKGROUND: Patients with Rare Diseases (RDs) present with chronic and debilitating symptoms such as pain, anxiety and epileptic seizures. Symptoms can be unresponsive to conventional treatment and may lead to a decreased Quality of Life for patients. Cannabinoids have been reported to be efficacious against chronic pain refractory to conventional analgesics, anxiety and seizures. OBJECTIVE: Identification of RDs for which Medicinal Cannabis (MC) can be used and identification of issues related to RDs and perceptions on the use of MC in patients with RDs. METHODS: Study was divided into 2 phases. Phase 1: Literature Review to identify RDs in which cannabis or cannabinoids are used Phase 2: Development, validation and dissemination of 2 questionnaires for: (i) Health Care Professionals (HCPs) and (ii) RD patients. RESULTS: Cannabinoids were described as possible therapeutic agents in 20 RDs. The questionnaires were completed by 101 HCPs and 38 RD patients. Thirty-three HCPs had no experience on use of MC but would consider using it in their practice for management of RDs. Most patients (n = 29) did not have experience with use of MC and 20 patients would consider using MC to treat their condition or relieve symptoms of their disease. CONCLUSION: The study helps identify the potential of MC use in RDs associated with chronic symptoms such as pain, muscle spasticity, seizures and anxiety.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45637466","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

Clinical spectrum of manifestations in symptomatic female with Duchenne muscular dystrophy: A concise review 症状性女性Duchenne肌营养不良的临床表现谱：简要综述

Translational science of rare diseases Pub Date : 2023-06-10 DOI: 10.3233/trd-220056

Emily Stefhani Keil, Milena Luisa Schulze, I. Kitzberger, Vítor Henrique Schulze, Carolina Helena Haveroth Lara, T. Tuon, E. Webber, Marcus Vinicius Magno Golçalves

{"title":"Clinical spectrum of manifestations in symptomatic female with Duchenne muscular dystrophy: A concise review","authors":"Emily Stefhani Keil, Milena Luisa Schulze, I. Kitzberger, Vítor Henrique Schulze, Carolina Helena Haveroth Lara, T. Tuon, E. Webber, Marcus Vinicius Magno Golçalves","doi":"10.3233/trd-220056","DOIUrl":"https://doi.org/10.3233/trd-220056","url":null,"abstract":"Duchenne Muscular Dystrophy (DMD) is a rare genetic disease, characterized by a severe, progressive muscle-weakening. Due to the localisation of the dystrophin gene in the X chromosome, DMD primarily affects males, but similar dystrophinopathies, that mimic DMD, can occur in females. The aim of this article is to present the main findings described in literature about these unusual dystrophinopathies clinical manifestations in females, in order to ease the practical approach to these conditions This article is a non-systematic review, with a view to presenting a critical review –all articles were researched in public databases PubMed, Medline, ScienceDirect, SciELO and Cochrane. Clinical presentation in female carriers shall vary from the traditional form in regards to the degrees and patterns of dysfunction, justified by the presence of a normal allele, as well as distinctive mutational mechanisms. Usually present with asymmetric bilateral leg weakness, myalgia, cramps, fatigue, calf muscles pseudohypertrophy, and dilated cardiomyopathy. Pathogenic variants in the DMD gene must be considered in the differential diagnosis of myopathic-suggestive clinical conditions, even in unusual presentations, such as female patients with muscular weakness or asymptomatic elevation of creatine kinase.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47431067","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

Becoming a research participant: Decision-making needs of individuals with neuromuscular diseases 成为研究参与者:神经肌肉疾病患者的决策需求

Translational science of rare diseases Pub Date : 2023-05-19 DOI: 10.3233/trd-220057

V. Gauthier, Marie-Eve Poitras, Mélissa Lavoie, B. Gallais, Samar Muslemani, Michel Boivin, Marc Tremblay, C. Gagnon

{"title":"Becoming a research participant: Decision-making needs of individuals with neuromuscular diseases","authors":"V. Gauthier, Marie-Eve Poitras, Mélissa Lavoie, B. Gallais, Samar Muslemani, Michel Boivin, Marc Tremblay, C. Gagnon","doi":"10.3233/trd-220057","DOIUrl":"https://doi.org/10.3233/trd-220057","url":null,"abstract":"BACKGROUND: Research has shown that some people with neuromuscular diseases may have a lower level of education due to lower socioeconomic status and possibly compromised health literacy. In view of these data, it appears important to document their decision-making needs to ensure better support when faced with the decision to participate or not in research projects. OBJECTIVES: 1) To document the decision-making needs of individuals with neuromuscular diseases to participate in research; 2) To explore their preferences regarding the format of knowledge translation tools related to research participation. Methods: This qualitative study is based on the Ottawa Decision Support Framework. A two-step descriptive study was conducted to capture the decision-making needs of people with neuromuscular diseases related to research participation: 1) Individual semi-directed interviews (with people with neuromuscular diseases) and focus groups (with healthcare professionals); 2) Synthesis of the literature. RESULTS: The semi-directed interviews (n = 11), the two focus groups (n = 11) and the literature synthesis (n = 50 articles) identified information needs such as learning about ongoing research projects, scientific advances and research results, the potential benefits and risks associated with different types of research projects, and identified values surrounding research participation: helping other generations, trust, obtaining better clinical follow-up, and socialization. CONCLUSION: This paper provides useful recommendations to support researchers and clinicians in developing material to inform individuals with neuromuscular diseases about research participation.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43536102","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

Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease 异位综合征和先天性心脏病患儿纤毛病基因变异与围手术期呼吸预后

Translational science of rare diseases Pub Date : 2023-04-01 DOI: 10.3233/trd-230059

Jonathan Marquez, Lauren N. Carlozzi, Danny E. Miller, M. Files, B. Kinghorn, E. Sagiv

{"title":"Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease","authors":"Jonathan Marquez, Lauren N. Carlozzi, Danny E. Miller, M. Files, B. Kinghorn, E. Sagiv","doi":"10.3233/trd-230059","DOIUrl":"https://doi.org/10.3233/trd-230059","url":null,"abstract":"BACKGROUND: Ciliary dysfunction underlies the pathogenesis of both heterotaxy syndrome and primary ciliary dyskinesia (PCD), often with overlapping genetic variants. OBJECTIVE: This case series aims to describe genetic testing and postoperative outcomes for infants with heterotaxy-associated congenital heart disease (H-CHD) with pathogenic variants in genes associated with ciliary structure or function. METHODS: Infants who underwent surgery for H-CHD between 2017 and 2022 were included in this single-center review. The results of genetic testing, microarray or sequencing-based tests, were reviewed. Baseline clinical data and postoperative outcomes are summarized for individuals with variants in ciliary genes. RESULTS: Of 32 infants who underwent surgery, 12 had sequencing-based testing. A genetic variant associated with ciliopathy was reported in 10 of 12 infants (83%), 3 (25%) were diagnostic of PCD and 2 (17%) were considered possibly diagnostic. Infants with variants in ciliary genes had high prevalence of postoperative respiratory complications, however a relationship between genetic test results and respiratory complications could not be proven. All infants with a genetic diagnosis of PCD showed clinical symptoms of PCD on follow-up. CONCLUSIONS: Sequencing-based testing has high detection rate for PCD in infants with H-CHD and may be valuable given their increased risk of respiratory complications after surgery.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48183975","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

Current Status of Developmental Encephalopathies: Rett Syndrome, MECP2 Duplication Disorder, CDKL5 Deficiency Disorder, and FOXG1 Disorder 发育性脑病的现状:Rett综合征、MECP2复制障碍、CDKL5缺乏性障碍和FOXG1障碍

Translational science of rare diseases Pub Date : 2023-01-11 DOI: 10.3233/trd-220055

A. Percy, Jeffery L. Neul, S. Peters, K. Brockmann, E. Marsh, T. Benke

引用次数: 1

Transition of care of patients with eosinophilic gastrointestinal diseases: Challenges and opportunities. 嗜酸性胃肠道疾病患者护理的转变:挑战与机遇。

Translational science of rare diseases Pub Date : 2022-01-01 Epub Date: 2022-04-13 DOI: 10.3233/trd-220054

Girish Hiremath, Adrian Chapa-Rodriguez, David A Katzka, Jonathan M Spergel, Benjamin Gold, Albert J Bredenoord, Evan S Dellon, Jeannie Huang, Sandeep K Gupta

{"title":"Transition of care of patients with eosinophilic gastrointestinal diseases: Challenges and opportunities.","authors":"Girish Hiremath, Adrian Chapa-Rodriguez, David A Katzka, Jonathan M Spergel, Benjamin Gold, Albert J Bredenoord, Evan S Dellon, Jeannie Huang, Sandeep K Gupta","doi":"10.3233/trd-220054","DOIUrl":"https://doi.org/10.3233/trd-220054","url":null,"abstract":"<p><p>Eosinophilic gastrointestinal disorders (EGID) are a group of allergen-mediated conditions which are characterized by eosinophilic inflammation affecting one or more parts of the gastrointestinal tract. A disproportionately higher number of EGID patients are diagnosed in the pediatric age group. Given the chronic course of EGIDs and lack of curative therapies at this time, majority of the pediatric EGID patients may require continued care well into their adulthood. However, to date, scant data are available regarding the health care transition (HCT), the transition of care (TC), and the effectiveness of transfer of care EGID patients from pediatric-oriented to adult-oriented providers. Herein, we review the lessons learnt from transfer of care of children with other chronic gastrointestinal and allergic conditions, analyze the current knowledge, potential barriers, the role of various stakeholders in successful transfer of care of EGID patients, propose a conceptual framework for HCT and TC of EGID patients, and identify outcome measures to ensure the quality of progression of care.</p>","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":" ","pages":"13-23"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311497/pdf/nihms-1825079.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40658000","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