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Journal of rare diseases research & treatment最新文献

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A Commentary on "A Novel Imaging Finding in Williams Syndrome: The Coral Sign" 《威廉姆斯综合征的新影像学发现:珊瑚标志》述评
Journal of rare diseases research & treatment Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1180
A. Agha, J. Burt
{"title":"A Commentary on \"A Novel Imaging Finding in Williams Syndrome: The Coral Sign\"","authors":"A. Agha, J. Burt","doi":"10.29245/2572-9411/2019/2.1180","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/2.1180","url":null,"abstract":"© 2019 Burt J. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License. We recently published “A Novel Imaging Finding in Williams Syndrome: The Coral Sign” in Pediatric Radiology. In this publication, we described a patient with Williams-Beuren Syndrome who underwent cardiac magnetic resonance (CMR) imaging after presenting with dizziness. Initially, the patient underwent echocardiography, which showed an unusual and abnormal appearance of the interventricular septum. Subsequent CMR further clarified the findings by showing septal thickening, thickened muscular trabeculations and linear bands of myocardium crossing the ventricle. This constellation of findings produced an image which resembled “coral” found on the ocean floor. This had not been previously described in the literature, and we declared this finding “the coral sign”1.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89080602","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
Multiple Exostosis Disease 多发性外生性疾病
Journal of rare diseases research & treatment Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1182
M. Niasse, B. S. Kane, K. Condé, S. Touré, L. Sarr, C. Diouf, S. Diallo
{"title":"Multiple Exostosis Disease","authors":"M. Niasse, B. S. Kane, K. Condé, S. Touré, L. Sarr, C. Diouf, S. Diallo","doi":"10.29245/2572-9411/2019/2.1182","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/2.1182","url":null,"abstract":"Int. J. Clin. Rheumatol. (2021) 16(1), 033-036 ISSN 1758-4272 Introduction Multiple exostosis disease, also known as familial ostechondromatosis or diaphysealaclasis, is a rare genetic disease with an autosomal dominant disorder, characterized by the presence of multiple osteochondromas (exostoses) [1]. It is mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2) and does not appear to have a sexual predominance. This benign tumor affects 1 in 50,000 births. Osteochondromas appears in the first decade of life and stops growing at puberty. In the majority of cases, they are asymptomatic [1,2]. The most common location is at the lateral side of the most active growth plate of a long bone. Clinical problems include pain and functional impairment. Additionally, growth deformities of bones and short stature are considerably present. Malignant degeneration of osteochondroma is a rare but important complication [3].Sacrum localization is not usual. We report a case of a 20-year-old female patient who has anunhabitual localization in iliac bone, discovered in adolescence age.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75233254","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: 2
Robust Sampling of Altered Pathways for Drug Repositioning Reveals Promising Novel Therapeutics for Inclusion Body Myositis 药物重新定位改变通路的稳健抽样揭示了包涵体肌炎有希望的新疗法
Journal of rare diseases research & treatment Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1174
J. Fernández-Martínez, Óscar Álvarez, Enrique J. deAndrés-Galiana, J. Viña, L. Huergo
{"title":"Robust Sampling of Altered Pathways for Drug Repositioning Reveals Promising Novel Therapeutics for Inclusion Body Myositis","authors":"J. Fernández-Martínez, Óscar Álvarez, Enrique J. deAndrés-Galiana, J. Viña, L. Huergo","doi":"10.29245/2572-9411/2019/2.1174","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/2.1174","url":null,"abstract":"In this paper we present a robust methodology to deal with phenotype prediction problems associated to drug repositioning in rare diseases, which is based on the robust sampling of altered pathways. We show the application to the analysis of IBM (Inclusion Body Myositis) providing new insights about the mechanisms involved in its development: cytotoxic CD8 T cell-mediated immune response and pathogenic protein accumulation in myofibrils related to the proteasome inhibition. The originality of this methodology consists of performing a robust and deep sampling of the altered pathways and relating these results to possible compounds via the connectivity map paradigm. The methodology is particularly well-suited for the case of rare diseases where few genetic samples are at disposal. We believe that this method for drug optimization is more effective and complementary to the target centric approach that loses efficacy due to a poor understanding of the disease mechanisms to establish an optimum mechanism of action (MoA) in the designed drugs. However, the efficacy of the list of drugs and gene targets provided by this approach should be preclinically validated and clinically tested. This methodology can be easily adapted to other rare and non-rare diseases.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89509921","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: 6
Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia 一种新型MTTP剪接变异体C .394- 2a >C在一名低脂蛋白血症婴儿中的鉴定
Journal of rare diseases research & treatment Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1176
D. M. Vidanapathirana, E. Jasinge, S. Waidyanatha, A. Hooper, J. Burnett
{"title":"Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia","authors":"D. M. Vidanapathirana, E. Jasinge, S. Waidyanatha, A. Hooper, J. Burnett","doi":"10.29245/2572-9411/2019/2.1176","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/2.1176","url":null,"abstract":"Identification of a novel MTTP splice variant c.394-2A˃C in an infant with abetalipoproteinemia Dinesha M. Vidanapathirana1,2* Eresha Jasinge1, Samantha Waidyanatha3, Amanda J. Hooper4,5, John R. Burnett4,5 1Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Sri Lanka 2Department of Pathology, Faculty of Medical Sciences, University of Sri Jayewardenepura, Sri Lanka 3Department of Paediatrics, Lady Ridgeway Hospital, Sri Lanka 4Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia 5School of Medicine, University of Western Australia, Australia","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80289623","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: 3
Simplified Approach to Glutaric Acidurias: A Mini-Review 戊二酸嘧啶的简化方法:综述
Journal of rare diseases research & treatment Pub Date : 2019-01-01 DOI: 10.29245/2572-9411/2019/1.1171
N. Y. Saral, F. Aksungar, M. Serteser
{"title":"Simplified Approach to Glutaric Acidurias: A Mini-Review","authors":"N. Y. Saral, F. Aksungar, M. Serteser","doi":"10.29245/2572-9411/2019/1.1171","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/1.1171","url":null,"abstract":"Inherited metabolic diseases (IMDs), comprise a large class of genetic diseases affecting the metabolism. Expanded newborn screening from dried dried blood spot (DBS) samples for inborn errors of metabolism has increased the detection of metabolic disorders in asymptomatic newborns and reduced the morbidity and mortality by early interventions. Organic acidurias (OADs) arise from the defects in the intermediary metabolic pathways of carbohydrate, amino acid and fatty acid oxidation, leading to the accumulation of organic acids in tissues and their subsequent excretion in urine. Glutaric acidurias are a group of OADs which have three major types with different genetic mutations affecting different metabolic enzymes. In this mini-review we will compare three types of GA and their genotypes, symptoms, diagnosis, and treatments will be discussed briefly.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75190567","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: 4
Roles of H3K27me3 Demethylase JMJD3 in Inflammation and Cancers H3K27me3去甲基化酶JMJD3在炎症和癌症中的作用
Journal of rare diseases research & treatment Pub Date : 2019-01-01 DOI: 10.29245/2572-9411/2019/1.1166
Xia Chen, Xue Xiao, F. Guo
{"title":"Roles of H3K27me3 Demethylase JMJD3 in Inflammation and Cancers","authors":"Xia Chen, Xue Xiao, F. Guo","doi":"10.29245/2572-9411/2019/1.1166","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/1.1166","url":null,"abstract":"","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82304334","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: 5
From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3 从下一代序列到表型:探索Bainbridge-Ropers综合征与ASXL3的功能变异丧失
Journal of rare diseases research & treatment Pub Date : 2019-01-01 DOI: 10.29245/2572-9411/2019/1.1160
S. Contreras-Capetillo, M. Abreu-González
{"title":"From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3","authors":"S. Contreras-Capetillo, M. Abreu-González","doi":"10.29245/2572-9411/2019/1.1160","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/1.1160","url":null,"abstract":"From Next Generation Sequence to the Phenotype: Exploring the Bainbridge-Ropers Syndrome with Loss of Function Variants in ASXL3 Silvina Noemí Contreras-Capetillo1*, Melania Abreu-González2 1Laboratorio de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México 2Laboratorio de Biología Molecular y Secuenciación Masiva. Genos Médica, Centro Especializado en Genética, Ciudad de México, México","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77918899","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
Genetic Landscape of aHUS: A Comprehensive Analysis of Genetic Variants Reported in The Literature aHUS的遗传景观:文献报道的遗传变异的综合分析
Journal of rare diseases research & treatment Pub Date : 2018-12-01 DOI: 10.29245/2572-9411/2018/1.1168
Ruijun Ji, Tatiana Serebriyskaya, Natalia Kuzkina
{"title":"Genetic Landscape of aHUS: A Comprehensive Analysis of Genetic Variants Reported in The Literature","authors":"Ruijun Ji, Tatiana Serebriyskaya, Natalia Kuzkina","doi":"10.29245/2572-9411/2018/1.1168","DOIUrl":"https://doi.org/10.29245/2572-9411/2018/1.1168","url":null,"abstract":"","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80809543","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: 1
Aggressive Angiomyxoma: Only Time Will Tell 侵袭性血管粘液瘤:只有时间才能证明
Journal of rare diseases research & treatment Pub Date : 2018-12-01 DOI: 10.29245/2572-9411/2018/1.1165
Saika Amreen
{"title":"Aggressive Angiomyxoma: Only Time Will Tell","authors":"Saika Amreen","doi":"10.29245/2572-9411/2018/1.1165","DOIUrl":"https://doi.org/10.29245/2572-9411/2018/1.1165","url":null,"abstract":"","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77259079","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
Spectrum of Lung and Cardiovascular Diseases in Association with Pulmonary Interstitial Glycogenosis 与肺间质性糖原症相关的肺部和心血管疾病谱
Journal of rare diseases research & treatment Pub Date : 2018-12-01 DOI: 10.29245/2572-9411/2018/1.1170
R. Chami
{"title":"Spectrum of Lung and Cardiovascular Diseases in Association with Pulmonary Interstitial Glycogenosis","authors":"R. Chami","doi":"10.29245/2572-9411/2018/1.1170","DOIUrl":"https://doi.org/10.29245/2572-9411/2018/1.1170","url":null,"abstract":"“Pulmonary Interstitial Glycogenosis (PIG) associated with a spectrum of neonatal pulmonary disorders”, reported by Cutz et al represents one of the largest series published to date. The report included twenty-eight cases of lung or cardiac disorders with coincident diffuse, patchy, or focal PIG reviewed in Division of Pathology, The Hospital for Sick Children. The authors focused on reporting a spectrum of disorders associated with PIG and described four clinicopathological subgroups including imaging, ultrastructural findings, and clinical outcome. The present paper highlights the main findings reported by Cutz et al, and a review of literature is also presented.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80104606","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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