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Typical Imaging Findings of Renal Oncocytoma 肾嗜瘤细胞瘤的典型影像学表现
Journal of rare diseases research & treatment Pub Date : 2022-01-27 DOI: 10.29245/2572-9411/2022/1.1203
B. Dua, Rajaram Sharma, T. Tiwari, S. Goyal
{"title":"Typical Imaging Findings of Renal Oncocytoma","authors":"B. Dua, Rajaram Sharma, T. Tiwari, S. Goyal","doi":"10.29245/2572-9411/2022/1.1203","DOIUrl":"https://doi.org/10.29245/2572-9411/2022/1.1203","url":null,"abstract":"For the past few decades, a solid mass in the kidney with avid enhancement was considered renal cell carcinoma (RCC). With the advancement in radiological interventions, the understanding and treatment of a large number of tumours has changed. Oncocytomas are solid benign renal masses contributing 3-7% in all renal neoplasms. We report a case of a 32-year-old male who presented to our medicine OPD with abdominal pain and discomfort for about one month, later diagnosed with oncocytoma. We emphasize the importance of the typical imaging findings for the diagnosis and characterization of renal tumors.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81799886","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
Ankylosing Spondylitis associated with Adult Still's Disease: The First Senegalese Case Report 与成人Still病相关的强直性脊柱炎:塞内加尔首例病例报告
Journal of rare diseases research & treatment Pub Date : 2021-12-10 DOI: 10.29245/2572-9411/2021/2.1202
M. Niasse, A. Ndao, Ramadhane Bouchrane, S. Charifah, A. Bah, S. Diallo
{"title":"Ankylosing Spondylitis associated with Adult Still's Disease: The First Senegalese Case Report","authors":"M. Niasse, A. Ndao, Ramadhane Bouchrane, S. Charifah, A. Bah, S. Diallo","doi":"10.29245/2572-9411/2021/2.1202","DOIUrl":"https://doi.org/10.29245/2572-9411/2021/2.1202","url":null,"abstract":"Ankylosing spondylitis is the most common type of spondyloarthritis1, a group of diseases characterized by axial skeleton and sacroiliac involvement, peripheral joints and/or entheseal involvement and extra-articular manifestations1,2. Other types of spondyloarthritis are psoriatic arthritis, reactive arthritis, arthritis associated with cryptogenetic inflammatory bowel disease, S.A.P.H.O. (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis), juvenile spondyloarthritis and undifferentiated forms. All other forms of spondyloarthritis can develop into ankylosing spondylitis1,2. This form, which can also occur at the outset, is characterized by the presence of sacroiliitis, often associated with stiffness and spinal deformities1,2,3.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85848622","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
Caregiver Support in Fibrodysplasia Ossificans Progressiva 进行性骨化性纤维发育不良患者的护理支持
Journal of rare diseases research & treatment Pub Date : 2021-07-05 DOI: 10.29245/2572-9411/2021/1.1200
M. Mukaddam, K. Cheung, Sammi Kile, Michelle R. Davis, F. Kaplan, R. Pignolo
{"title":"Caregiver Support in Fibrodysplasia Ossificans Progressiva","authors":"M. Mukaddam, K. Cheung, Sammi Kile, Michelle R. Davis, F. Kaplan, R. Pignolo","doi":"10.29245/2572-9411/2021/1.1200","DOIUrl":"https://doi.org/10.29245/2572-9411/2021/1.1200","url":null,"abstract":"Background:Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease characterized by malformed great toes and progressive heterotopic ossification (HO) in soft tissues. Current standard-of-care is aimed at palliation of symptoms; there are no currently approved therapies to prevent HO. Recurrent episodes of HO starting in early life lead to cumulative disability, severe functional limitations, and shortened life span. Most individuals require assistive devices and extensive caregiver support before the second decade of life. Caregiver support is thought to be high, but the timing and extent of caregiver support in FOP has not been formally assessed. Methods: Using data from the International FOP Association (IFOPA) Global Registry on 299 patients (median age 21 years; range 0.1 to 78 years) from 54 countries, we characterized the extent of caregiver support by assessing the number of part-time and full-time caregivers and school aides reported by participants, based on age. Results: Over 50% of FOP Registry respondents reported a need for part-time or full-time home personal care attendants. The percentage of individuals who reported a requirement for bathing attendants and part- or full-time home personal care attendants increased with age (>1 part-time or full-time caregiver exceeded 30% for individuals >15 years of age), as did the number of part-time or full-time attendants. Support from school aides peaked between 9 and 15 years of age. Conclusion: Caregiver support in FOP is high in terms of time and amount of support needed, increases rapidly with age, and is substantial by the second decade of life. These findings highlight the urgent need for transformative treatments that will preserve the independence of individuals with FOP.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80464910","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
Prolactinoma as a Cause of Persistent Hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase Deficiency 催乳素瘤是6-丙酮酰四氢蝶呤合酶缺乏症患者持续高催乳素血症的原因
Journal of rare diseases research & treatment Pub Date : 2020-07-01 DOI: 10.29245/2572-9411/2020/2.1191
Zainab Almasseri, Manal Jilwan, A. Almadani, M. Al-Owain, R. Gama, R. Sulaiman
{"title":"Prolactinoma as a Cause of Persistent Hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase Deficiency","authors":"Zainab Almasseri, Manal Jilwan, A. Almadani, M. Al-Owain, R. Gama, R. Sulaiman","doi":"10.29245/2572-9411/2020/2.1191","DOIUrl":"https://doi.org/10.29245/2572-9411/2020/2.1191","url":null,"abstract":"Prolactinoma as a Cause of Persistent Hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase Deficiency Zainab Almasseri1, Manal NicolasJilwan2, Ahmad Khaled Almadani1, Mohammad Al-Owain1,5, Rousseau Gama3,4, Raashda Ainuddin Sulaiman1,5* 1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia 2Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia 3Blood sciences, The Royal Wolverhampton NHS trust, Wolverhampton, UK. 4School of Medicine and Clinical Practice, Wolverhampton University, UK 5College of Medicine, Alfaisal University, Riyadh, Saudi Arabia","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88759345","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
The Known Unknowns: Missing Pieces in in vivo Models of Fragile X Syndrome 已知的未知:脆性X综合征体内模型中的缺失部分
Journal of rare diseases research & treatment Pub Date : 2020-06-01 DOI: 10.29245/2572-9411/2020/1.1190
P. Kulkarni, Aarti Sevilimedu
{"title":"The Known Unknowns: Missing Pieces in in vivo Models of Fragile X Syndrome","authors":"P. Kulkarni, Aarti Sevilimedu","doi":"10.29245/2572-9411/2020/1.1190","DOIUrl":"https://doi.org/10.29245/2572-9411/2020/1.1190","url":null,"abstract":"Fragile X Syndrome (FXS) is a rare disease and the leading monogenic cause of Autism Spectrum Disorders (ASD). It is caused by the silencing of the Fragile X mental retardation (FMR1) gene and the subsequent reduction or loss of fragile X mental retardation protein (FMRP). The clinical effects seen in FXS patients are several and highly variable making it difficult to model them in a single model or even one organism. Furthermore, several human behaviours can be measured only through surrogate endpoints in animals. Therefore, it has been challenging to develop in vivo models of FXS for drug discovery.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72799456","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
Malignant Degeneration into Chondrosarcoma of Multiple Exostosis Disease: The First Senegalese Case Report 多发性外生性疾病的恶性变性软骨肉瘤:第一例塞内加尔病例报告
Journal of rare diseases research & treatment Pub Date : 2019-11-01 DOI: 10.29245/2572-9411/2019/3.1185
M. Niasse, B. S. Kane, A. Gaye, E. Ndiaye, I. Faye, M. Sow, Tafsir Ka, A. Diallo, A. Faye, S. Diallo
{"title":"Malignant Degeneration into Chondrosarcoma of Multiple Exostosis Disease: The First Senegalese Case Report","authors":"M. Niasse, B. S. Kane, A. Gaye, E. Ndiaye, I. Faye, M. Sow, Tafsir Ka, A. Diallo, A. Faye, S. Diallo","doi":"10.29245/2572-9411/2019/3.1185","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/3.1185","url":null,"abstract":"Malignant Degeneration into Chondrosarcoma of Multiple Exostosis Disease: The First Senegalese Case Report Moustapha Niasse1*, Baïdy Sy Kane2, Abdou Majib Gaye3, El Hadji Modou Ndiaye2, Ibrahima Faye4, Maïmouna Sow2, Tafsir Ngary Ka2, Alioune Badara Diallo2, Atoumane Faye2, Saïdou Diallo1 1Department of Rheumatology, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal 2Department of Internal Medicine, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal 3Department of Anatomy and pathology, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal 4Department of Radiology, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80520184","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
Commentary: "Quality of Life in Caregivers of Children and Adolescents with Osteogenesis Imperfecta" 评论:“患有成骨不全症的儿童和青少年护理人员的生活质量”
Journal of rare diseases research & treatment Pub Date : 2019-07-01 DOI: 10.29245/2572-9411/2019/3.1175
Ana Paula Vanz, T. Félix, N. S. Rocha, I. Schwartz
{"title":"Commentary: \"Quality of Life in Caregivers of Children and Adolescents with Osteogenesis Imperfecta\"","authors":"Ana Paula Vanz, T. Félix, N. S. Rocha, I. Schwartz","doi":"10.29245/2572-9411/2019/3.1175","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/3.1175","url":null,"abstract":"Commentary: “Quality of Life in Caregivers of Children and Adolescents with Osteogenesis Imperfecta” Ana Paula Vanz1, Têmis Maria Félix2,3, Neusa Sica da Rocha4, Ida Vanessa D. Schwartz2,5* 1Nurse department, Faculdades Integradas de Taquara, Taquara, Brazil 2Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil 3Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil 4Postgraduate Program in Medical Sciences: Psychiatry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil 5Department of Genetics, Universidade Federal do Rio Grande do Sul, Brazil","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80263601","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
Metastatic Carcinoma to the Testis - A Mini Review 睾丸转移癌-一个小回顾
Journal of rare diseases research & treatment Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1177
Gang-ping Wang
{"title":"Metastatic Carcinoma to the Testis - A Mini Review","authors":"Gang-ping Wang","doi":"10.29245/2572-9411/2019/2.1177","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/2.1177","url":null,"abstract":"Metastatic carcinomas to the testis are extremely rare and have been reported only in autopsy series or case reports. However, when they occur, the metastatic tumors in the testis are usually unilateral and solitary, may have overlap growth patterns and cytological features with primary testicular tumors, including those of rete/epididymis origin, mesothelial origin and Sertoli cell tumor. It will make the diagnosis very challenging, especially when there is no known history of a primary tumor in other sites. Metastatic prostatic adenocarcinoma counts nearly half of the overall metastatic carcinoma in the testis, followed by colorectal carcinoma and renal cell carcinoma. Here, we review our experience and summarize the reported cases from the literature, to emphasize some of the unusual aspects of metastatic carcinoma to the testis, and discuss the main differential diagnoses for this rare condition. Awareness of the features of these tumors, consideration of the possibility of metastasis and appropriate ancillary studies are the keys to the accurate diagnosis of these cases.","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":"83031495","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
http://www.rarediseasesjournal.com/old-issues.php?journal=jrdrt&&v=4&&i=2&&y=2019&&m=April http://www.rarediseasesjournal.com/old-issues.php?journal=jrdrt&&v=4&&i=2&&y=2019&&m=April
Journal of rare diseases research & treatment Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1172
Boris Ariel, I. Dvorakovskaya, L. Novikova, M. Ilkovich
{"title":"http://www.rarediseasesjournal.com/old-issues.php?journal=jrdrt&&v=4&&i=2&&y=2019&&m=April","authors":"Boris Ariel, I. Dvorakovskaya, L. Novikova, M. Ilkovich","doi":"10.29245/2572-9411/2019/2.1172","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/2.1172","url":null,"abstract":"","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":"85582793","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
High Molecular Weight Hyaluronic Acid (Hyalubrix/HyalOne) for Treating Symptomatic Hip Osteoarthritis 高分子量透明质酸(Hyalubrix/HyalOne)用于治疗症状性髋关节骨关节炎
Journal of rare diseases research & treatment Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1181
A. Migliore, G. Gigliucci, S. Tormenta, A. Cata, L. Gallelli, G. Iolascon
{"title":"High Molecular Weight Hyaluronic Acid (Hyalubrix/HyalOne) for Treating Symptomatic Hip Osteoarthritis","authors":"A. Migliore, G. Gigliucci, S. Tormenta, A. Cata, L. Gallelli, G. Iolascon","doi":"10.29245/2572-9411/2019/2.1181","DOIUrl":"https://doi.org/10.29245/2572-9411/2019/2.1181","url":null,"abstract":"High Molecular Weight Hyaluronic Acid (Hyalubrix/HyalOne) for Treating Symptomatic Hip Osteoarthritis Alberto Migliore1*, Gianfranco Gigliucci1, Sandro Tormenta2, Angelo De Cata3, Luca Gallelli4, Giovanni Iolascon5 1Rheumatology Unit and Research Center, S. Pietro Fatebenefratelli Hospital, Rome, Italy 2Radiology Unit, S. Pietro Fatebenefratelli Hospital, Rome, Italy 3Department of Medical Sciences, Division of Internal Medicine and Rheumatology Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 4Chair of Pharmacology Department of Health Science, University of Catanzaro School of Medicine, and Operative Unit of Clinical Pharmacology and Pharmacovigilance, Azienda Ospedaliera MaterDomini, Catanzaro, Italy 5Department of Medical and Surgical Specialties and Dentistry, University of Campania “Luigi Vanvitelli”, Naples, Italy","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":"80217468","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
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