Rare diseases (Austin, Tex.)最新文献_第4页

Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism Pelger-Huët异常和格林伯格骨骼发育不良:胆固醇代谢的lbr相关疾病

Rare diseases (Austin, Tex.) Pub Date : 2016-01-01 DOI: 10.1080/21675511.2016.1241363

Elizabeth M. Turner, Christian Schlieker

引用次数: 15

Vascular-targeted recombinant adeno-associated viral vectors for the treatment of rare diseases 用于治疗罕见病的血管靶向重组腺相关病毒载体

Rare diseases (Austin, Tex.) Pub Date : 2016-01-01 DOI: 10.1080/21675511.2016.1220470

J. Körbelin, M. Schwaninger, M. Trepel

{"title":"Vascular-targeted recombinant adeno-associated viral vectors for the treatment of rare diseases","authors":"J. Körbelin, M. Schwaninger, M. Trepel","doi":"10.1080/21675511.2016.1220470","DOIUrl":"https://doi.org/10.1080/21675511.2016.1220470","url":null,"abstract":"ABSTRACT There is a lack of treatment options for many rare genetic disorders. Gene therapy represents a promising and innovative approach to fill this gap. One of such rare disorders is incontinentia pigmenti caused by X-linked deletions or mutations in the Nemo gene. The disease affects the skin, teeth, and eyes and, most importantly, it leads to a severe vascular pathology of the central nervous system. The genetic treatment of vascular disorders such as incontinentia pigmenti critically depends on safe and efficient gene delivery. Thus, focus has been set on the development of suitable vector systems. In a recent issue of EMBO Molecular Medicine, we describe the development of a recombinant adeno-associated viral (AAV) vector with a unique tropism for the brain vascular endothelium (termed AAV-BR1) and, as a proof of principle that may be transferred to other vascular disorders, report on its therapeutic application in a mouse model of incontinentia pigmenti. Here, we discuss the implications of our findings and further highlight the promising prospects as well as potential limitations of such vectors.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2016.1220470","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"60423077","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

What do we learn from the murine Jacob/Nsmf gene knockout for human disease? 我们从小鼠Jacob/Nsmf基因敲除人类疾病中学到了什么?

Rare diseases (Austin, Tex.) Pub Date : 2016-01-01 DOI: 10.1080/21675511.2016.1241361

C. Spilker, K. Grochowska, M. Kreutz

引用次数: 13

A commentary on the utility of a new L-DOPA-responsive dystonia mouse model. 一种新的左旋多巴反应性肌张力障碍小鼠模型的实用性评论。

Rare diseases (Austin, Tex.) Pub Date : 2015-12-29 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2015.1128617

Samuel J Rose, Ellen J Hess

引用次数: 0

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency. 对严重联合免疫缺陷的代谢和营养决定因素的新见解。

Rare diseases (Austin, Tex.) Pub Date : 2015-11-24 eCollection Date: 2015-01-01 DOI: 10.1080/21675511.2015.1112479

Martha S Field, Elena Kamynina, David Watkins, David S Rosenblatt, Patrick J Stover

引用次数: 7

Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches. 罕见病诊断:网络搜索、社交媒体和大规模数据挖掘方法综述。

Rare diseases (Austin, Tex.) Pub Date : 2015-09-16 eCollection Date: 2015-01-01 DOI: 10.1080/21675511.2015.1083145

Dan Svenstrup, Henrik L Jørgensen, Ole Winther

{"title":"Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches.","authors":"Dan Svenstrup, Henrik L Jørgensen, Ole Winther","doi":"10.1080/21675511.2015.1083145","DOIUrl":"https://doi.org/10.1080/21675511.2015.1083145","url":null,"abstract":"Physicians and the general public are increasingly using web-based tools to find answers to medical questions. The field of rare diseases is especially challenging and important as shown by the long delay and many mistakes associated with diagnoses. In this paper we review recent initiatives on the use of web search, social media and data mining in data repositories for medical diagnosis. We compare the retrieval accuracy on 56 rare disease cases with known diagnosis for the web search tools google.com, pubmed.gov, omim.org and our own search tool findzebra.com. We give a detailed description of IBM's Watson system and make a rough comparison between findzebra.com and Watson on subsets of the Doctor's dilemma dataset. The recall@10 and recall@20 (fraction of cases where the correct result appears in top 10 and top 20) for the 56 cases are found to be be 29%, 16%, 27% and 59% and 32%, 18%, 34% and 64%, respectively. Thus, FindZebra has a significantly (p < 0.01) higher recall than the other 3 search engines. When tested under the same conditions, Watson and FindZebra showed similar recall@10 accuracy. However, the tests were performed on different subsets of Doctors dilemma questions. Advances in technology and access to high quality data have opened new possibilities for aiding the diagnostic process. Specialized search engines, data mining tools and social media are some of the areas that hold promise. ","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2015.1083145","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34067319","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: 62

Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation. 色氨酸疗法治疗WHIM综合征:对骨髓移植的影响。

Rare diseases (Austin, Tex.) Pub Date : 2015-08-11 eCollection Date: 2015-01-01 DOI: 10.1080/21675511.2015.1073430

David H McDermott, Ji-Liang Gao, Philip M Murphy

{"title":"Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation.","authors":"David H McDermott, Ji-Liang Gao, Philip M Murphy","doi":"10.1080/21675511.2015.1073430","DOIUrl":"https://doi.org/10.1080/21675511.2015.1073430","url":null,"abstract":"We recently reported a 59 year old female, designated WHIM-09, who was born with the rare immunodeficiency disease WHIM syndrome but underwent spontaneous phenotypic reversion as an adult. The causative WHIM mutation CXCR4 (R334X) was absent in her myeloid and erythroid lineage, but present in her lymphoid lineage and in epithelial cells, defining her as a somatic genetic mosaic. Genomic and hematologic analysis revealed chromothripsis (chromosome shattering) on one copy of chromosome 2, which deleted 164 genes including CXCR4 (R334X) in a single haematopoietic stem cell (HSC) (Fig. 1). Experiments in mice indicated that deleting one copy of Cxcr4 is sufficient to confer a selective advantage for engraftment of transplanted HSCs, suggesting a mechanism for clinical cure in WHIM-09. Genome editing may allow autologous transplantation of HSCs lacking one copy of CXCR4 without bone marrow conditioning as a general cure strategy in WHIM syndrome, safely recapitulating the outcome in patient WHIM-09. Figure 1.Chromothripsis (chromosomal shattering) resulted in clinical cure of a patient with a rare immunodeficiency (WHIM syndrome) by deleting the mutant copy of CXCR4. ","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2015.1073430","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34082270","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: 13

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. 色素性干皮病-柯凯因综合征分子基础的统一模型。

Rare diseases (Austin, Tex.) Pub Date : 2015-08-07 eCollection Date: 2015-01-01 DOI: 10.1080/21675511.2015.1079362

María Moriel-Carretero, Emilia Herrera-Moyano, Andrés Aguilera

引用次数: 12

Huntington's disease is a multi-system disorder. 亨廷顿氏病是一种多系统疾病。

Rare diseases (Austin, Tex.) Pub Date : 2015-07-24 eCollection Date: 2015-01-01 DOI: 10.1080/21675511.2015.1058464

Michal Mielcarek

引用次数: 48

Macrophage migration inhibitory factor as a component of selective vulnerability of motor neurons in ALS. 巨噬细胞迁移抑制因子在ALS患者运动神经元选择性易损性中的作用。

Rare diseases (Austin, Tex.) Pub Date : 2015-06-17 eCollection Date: 2015-01-01 DOI: 10.1080/21675511.2015.1061164

Salah Abu-Hamad, Adrian Israelson

引用次数: 2