Journal of rare diseases research & treatment最新文献_第3页

Familial Immune Thrombocytopenia. Report of 16 Cases and Literature Review 家族性免疫性血小板减少症。16例报告并文献复习

Journal of rare diseases research & treatment Pub Date : 2018-11-01 DOI: 10.29245/2572-9411/2018/4.1167

N. Pujol-Moix, B. Jiménez, E. Muñiz-Díaz, M. Roca, J. Souto

引用次数: 2

Frequency Analysis for The Effect of Pico Tesla-Transcranial Magnetic Stimulation in Epilepsy Patients Using Magnetoencephalography 脑磁图分析皮特斯拉经颅磁刺激对癫痫患者影响的频率

Journal of rare diseases research & treatment Pub Date : 2018-11-01 DOI: 10.29245/2572-9411/2018/4.1164

P. Anninos

引用次数: 3

Chemoradiotherapy Versus Chemotherapy for Localized Gastric Cancer: A Mini Review 局部胃癌的放化疗与化疗:一个小综述

Journal of rare diseases research & treatment Pub Date : 2018-08-01 DOI: 10.29245/2572-9411/2018/3.1159

D. Girardi

引用次数: 0

Cardiac Complications in Patients with Propionic Acidemia 丙酸血症患者的心脏并发症

Journal of rare diseases research & treatment Pub Date : 2018-08-01 DOI: 10.29245/2572-9411/2018/3.1162

M. Rodríguez-González, Alvaro Antonio Perez-Reviriego, Ana Castellano-Martínez, Helena Maria Cascales-Poyatos

引用次数: 6

Potential Pithfalls in Using HPLC and its Interpretation in Diagnosing HbS HPLC诊断HbS的潜在缺陷及其解释

Journal of rare diseases research & treatment Pub Date : 2018-08-01 DOI: 10.29245/2572-9411/2018/3.1161

S. Nair

{"title":"Potential Pithfalls in Using HPLC and its Interpretation in Diagnosing HbS","authors":"S. Nair","doi":"10.29245/2572-9411/2018/3.1161","DOIUrl":"https://doi.org/10.29245/2572-9411/2018/3.1161","url":null,"abstract":"Hemoglobinopathies are the most common group of autosomal recessive monogenic disorders worldwide. They include both thalassemias and structural hemoglobin variants. More than 1,100 hemoglobin variants have been detected so far out which majority of them are new variants while some others are very commonly found in some populations 1, 2,3. Sickle hemoglobin (Hb S) is a very common structural variant found worldwide. Sickle cell disorder is a group of hereditary blood disorders caused due to a mutation in the β globin gene resulting in the production of abnormal hemoglobin called sickle hemoglobin (Hb S). Hb S is so called because the abnormal hemoglobin causes the red blood cells to become rigid and sickle shaped which blocks blood flow and breaks down easily4. Severity in sickle cell disorders varies and the symptoms range from anemia to vaso-occlusive crises which over a period of time affect multiple organs with chronic deterioration over the time5. When the sickle mutation is inherited with any other globin gene mutation it is called variant sickle cell syndromes and the clinical severity may differ when compared to homozygous sickle mutation6. Early detection of sickle cell disease (SCD) helps in the prophylactic therapy7 and proper management of the disease5. This is the reason why new born or neonatal screening programs for sickle cell disorders have been initiated in many countries where the prevalence of sickle cell anemia is very high8,9 .Therefore it becomes all the more important that extreme precaution has to be taken while diagnosing sickle cell disease as it provides a direction for life long treatment and prophylaxis of the patient along with counselling of the parents for prenatal diagnosis or pre implantation genetic diagnosis in future pregnancies3,10. Bone marrow transplant with HLA identical donors and use of hydroxyurea may be beneficial to reduce frequency of crises and reduce tissue damage11.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"216 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72839619","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

Geographic Diversity in Atypical Hemolytic Uremic Syndrome (aHUS): The Genetic Background of aHUS Cohort in Japan 非典型溶血性尿毒症综合征(aHUS)的地理多样性:日本aHUS队列的遗传背景

Journal of rare diseases research & treatment Pub Date : 2018-08-01 DOI: 10.29245/2572-9411/2018/3.1156

Yoichiro Ikeda

引用次数: 1

Commentary: Loin Pain Hematuria Syndrome. 评论:腰痛血尿综合征。

Journal of rare diseases research & treatment Pub Date : 2018-01-01 DOI: 10.29245/2572-9411/2018/4.1169

Natalie M Bath, Daniel H Williams, Hans W Sollinger, Robert R Redfield

{"title":"Commentary: Loin Pain Hematuria Syndrome.","authors":"Natalie M Bath, Daniel H Williams, Hans W Sollinger, Robert R Redfield","doi":"10.29245/2572-9411/2018/4.1169","DOIUrl":"https://doi.org/10.29245/2572-9411/2018/4.1169","url":null,"abstract":"<p><p>Loin Pain Hematuria Syndrome (LPHS) remains a rare disease but has a significant impact on those affected by it. Patients diagnosed with LPHS experience severe, constant or intermittent flank pain that radiates to the groin and may be exacerbated even by a gentle touch. These patients often require significant narcotic regimens for pain control and are unable to maintain a functional lifestyle. Previously, diagnosis has been made based on clinical presentation. One treatment for this syndrome is renal autotransplant; however, success rates are varied. Therefore, patient selection for this procedure is important. We have developed the UW-LPHS test as a diagnostic maneuver in order to determine which patients with LPHS would benefit from renal autotransplant. To perform this diagnostic test, bupivacaine is instilled into the ureter on the affected side and left to dwell. Patients who experience pain relief following this test are deemed to benefit from renal autotransplant. Here we describe this novel diagnostic test and initial success rates following renal autotransplant.</p>","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"3 4","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37154306","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: 1

Commentary: Individuals affected by Eosinophilic Gastrointestinal Disorders Have Complex Unmet Needs and Experience Barriers to Care. 评论：嗜酸性粒细胞性胃肠道疾病患者有复杂的未满足需求和护理障碍。

Journal of rare diseases research & treatment Pub Date : 2018-01-01 Epub Date: 2018-07-17 DOI: 10.29245/2572-9411/2018/2.1155

Girish Hiremath, Evan S Dellon

引用次数: 0

Waardenburg Syndrome Expression and Penetrance Waardenburg综合征的表达和外显率

Journal of rare diseases research & treatment Pub Date : 2017-12-10 DOI: 10.29245/2572-9411/2017/6.1118

M. Shelby

{"title":"Waardenburg Syndrome Expression and Penetrance","authors":"M. Shelby","doi":"10.29245/2572-9411/2017/6.1118","DOIUrl":"https://doi.org/10.29245/2572-9411/2017/6.1118","url":null,"abstract":"Through a combination of in silico research and reviews of previous work, mechanisms by which nonsense-mediated mRNA decay (NMD) affects the inheritance and expressivity of Waardenburg syndrome is realized. While expressivity and inheritance both relate to biochemical processes underlying a gene’s function, this research explores how alternative splicing and premature termination codons (PTC’s) within mRNAs mutated in the disease are either translated into deleterious proteins or decayed to minimize expression of altered proteins. Elucidation of splice variants coupled with NMD perpetuating the various symptoms and inheritance patterns of this disease represent novel findings. By investigating nonsense mutations that lie within and outside the NMD boundary of these transcripts we can evaluate the effects of protein truncation versus minimized protein expression on the variable expressivity found between Type I and Type III Waardenburg syndrome, PAX3, while comparatively evaluating EDN3 and SOX10’s role in inheritance of Type IV subtypes of the disease. This review will demonstrate how alternative splicing perpetuates or limits NMD activity by way of PTC positioning, thereby affecting the presentation of Waardenburg syndrome.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"43 1","pages":"31 - 40"},"PeriodicalIF":0.0,"publicationDate":"2017-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81113268","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

Commentary: SU9516 increases α7β1 Integrin and Ameliorates Disease Progression in the mdx Mouse Model of Duchenne Muscular Dystrophy 评论:SU9516在mdx小鼠杜氏肌营养不良模型中增加α7β1整合素并改善疾病进展

Journal of rare diseases research & treatment Pub Date : 2017-08-29 DOI: 10.29245/2572-9411/2017/5.1126

A. Sarathy, A. Nunes, Tatiana M Fontelonga, Tracy Y. Ogata, D. Burkin

{"title":"Commentary: SU9516 increases α7β1 Integrin and Ameliorates Disease Progression in the mdx Mouse Model of Duchenne Muscular Dystrophy","authors":"A. Sarathy, A. Nunes, Tatiana M Fontelonga, Tracy Y. Ogata, D. Burkin","doi":"10.29245/2572-9411/2017/5.1126","DOIUrl":"https://doi.org/10.29245/2572-9411/2017/5.1126","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a debilitating X-linked neuromuscular disease with an incidence of 1 in every 5000 boys1. It is caused by mutations in the DMD gene coding for dystrophin, a critical structural protein in muscle. Out-of-frame mutations in the DMD gene, result in the complete loss of dystrophin in muscle fibers2,3 and this leads to a severe disease characterized by progressive muscle deterioration. The functional role of dystrophin is to stabilize the dystrophin glycoprotein complex (DGC), which is composed of sarcolemmal glycoproteins that link the extracellular matrix (ECM) to the actin cystoskeleton in muscle fibers4,5. In the absence of dystrophin, this critical link is lost, rendering the muscle fibers susceptible to damage and contraction-induced injury. Until recently, palliative interventions such as glucocorticoid and corticosteroids were the only options available for disease management in DMD patients. These were accompanied by numerous side effects including weight gain, stunted growth, cataracts and susceptibility to skeletal fractures6,7. In September 2016, the Food and Drug Administration approved a drug for the treatment of patients with amenable mutations in exon 51 of the dystrophin gene. The drug Eteplirsen, a phosphorodiamidate oligonucleotide (PMO), is an exon skipping molecule8 which skips its target exon 51, thereby restoring the dystrophin translational reading frame and enabling expression of a truncated dystrophin molecule in patient muscle fibers. Eteplirsen addresses only 13% of DMD patients because it is mutation-specific9 and a therapeutic that can be universally administered to all DMD patients is still needed.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"19 1","pages":"1 - 4"},"PeriodicalIF":0.0,"publicationDate":"2017-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88780644","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