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Journal of rare diseases (Berlin, Germany)最新文献

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Overall assessment of patients with type 1 Gaucher disease: a single-centre’s experience 1型戈谢病患者的总体评估:单中心经验
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-10-02 DOI: 10.1007/s44162-023-00019-6
Huseyin Dursun, Esra Yildizhan, Fahri Bayram
{"title":"Overall assessment of patients with type 1 Gaucher disease: a single-centre’s experience","authors":"Huseyin Dursun, Esra Yildizhan, Fahri Bayram","doi":"10.1007/s44162-023-00019-6","DOIUrl":"https://doi.org/10.1007/s44162-023-00019-6","url":null,"abstract":"Abstract Purpose To evaluate the demographic and clinical data of patients with type 1 Gaucher disease, a rare disease, at a single centre. Methods The data of patients with type 1 Gaucher disease who were followed up at the Endocrinology Department of Erciyes University’s Medical Faculty Hospital between 2019 and 2021 were evaluated. Results We evaluated 13 patients with type 1 Gaucher disease who were diagnosed or followed up at our centre and whose data could be accessed. Four of the patients were male, and nine were female. The mean age at the time of diagnosis was 33 (± 11.32) years. Hepatomegaly was present in 11 of the 13 patients. Eight of the 13 patients had splenomegaly. Three patients had undergone splenectomy. The liver and spleen dimensions of two patients were normal. The platelet count was normal in three of the 10 patients without a history of undergoing splenectomy. Bone densitometry revealed that six patients had a lumbar z-score of ≤ − 2.5. Five patients had a score between − 1 and − 2.5, and two patients had a normal z-score. The mean treatment duration was 36 (± 19.46) months. All our patients were administered enzyme replacement therapy. Conclusion Gaucher disease is a rare lysosomal storage disease that affects many systems. It causes irreversible morbidity in patients in whom diagnosis is delayed. The main treatment modality was enzyme replacement therapy. Because it is a rare and multisystemic disease, patients should be followed up at centres with experience in treating Gaucher disease.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135791279","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
Swyer syndrome: a rare cause of primary amenorrhea 斯威耶综合征:原发性闭经的罕见病因
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-09-01 DOI: 10.1007/s44162-023-00016-9
Ujjwala Sandilya, Sangam Jha
{"title":"Swyer syndrome: a rare cause of primary amenorrhea","authors":"Ujjwala Sandilya, Sangam Jha","doi":"10.1007/s44162-023-00016-9","DOIUrl":"https://doi.org/10.1007/s44162-023-00016-9","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41546449","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
Fibroadipose vascular anomaly successfully treated with sirolimus: experience in 3 children 西罗莫司成功治疗纤维脂肪性血管异常3例体会
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-08-04 DOI: 10.1007/s44162-023-00015-w
Aman Chaudhary, S. Rastogi, A. Goyal, A. Barwad, Swasthik Upadhya P.
{"title":"Fibroadipose vascular anomaly successfully treated with sirolimus: experience in 3 children","authors":"Aman Chaudhary, S. Rastogi, A. Goyal, A. Barwad, Swasthik Upadhya P.","doi":"10.1007/s44162-023-00015-w","DOIUrl":"https://doi.org/10.1007/s44162-023-00015-w","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41964030","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
A case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome! 23年不明原因持续性结合性高胆红素血症伴正常肝转氨酶1例:记住杜宾-约翰逊综合征!
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-08-01 DOI: 10.1007/s44162-023-00014-x
Safeer Khan, Danish Ali, Sabi-ur Rehman
{"title":"A case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome!","authors":"Safeer Khan, Danish Ali, Sabi-ur Rehman","doi":"10.1007/s44162-023-00014-x","DOIUrl":"https://doi.org/10.1007/s44162-023-00014-x","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45447586","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
Neuro-cognitive complications of nephropathic cystinosis 肾病性膀胱炎的神经认知并发症
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-07-01 DOI: 10.1007/s44162-023-00013-y
D. Trauner
{"title":"Neuro-cognitive complications of nephropathic cystinosis","authors":"D. Trauner","doi":"10.1007/s44162-023-00013-y","DOIUrl":"https://doi.org/10.1007/s44162-023-00013-y","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49541294","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
Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades 埃及戈谢病3型患者:一项跨越二十年的大型队列研究
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-06-01 DOI: 10.1007/s44162-023-00011-0
A. El‐Beshlawy, Khaled Abdel-Azim, A. Abdel-Salam, Yasmeen Selim, Fadwa Said, Nadine A. Gebril, E. Fateen, P. Mistry
{"title":"Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades","authors":"A. El‐Beshlawy, Khaled Abdel-Azim, A. Abdel-Salam, Yasmeen Selim, Fadwa Said, Nadine A. Gebril, E. Fateen, P. Mistry","doi":"10.1007/s44162-023-00011-0","DOIUrl":"https://doi.org/10.1007/s44162-023-00011-0","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47249258","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
A brief insight into the rare diseases in Egypt 埃及罕见病简介
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-05-01 DOI: 10.1007/s44162-023-00010-1
Tarek Taha, Dina Ahmed, Zaynab El-Gammal, Gehad Atef Oura, S. Elshenawy, Yasmine Gaber, Tarek Elnagdy, Khaled Amer
{"title":"A brief insight into the rare diseases in Egypt","authors":"Tarek Taha, Dina Ahmed, Zaynab El-Gammal, Gehad Atef Oura, S. Elshenawy, Yasmine Gaber, Tarek Elnagdy, Khaled Amer","doi":"10.1007/s44162-023-00010-1","DOIUrl":"https://doi.org/10.1007/s44162-023-00010-1","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44505790","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
Three-dimensional radiographic features of craniometaphyseal dysplasia—a comparative CBCT study 颅骨干骺端发育不良的三维影像学特征——CBCT对比研究
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-04-03 DOI: 10.1007/s44162-023-00009-8
K. S. Muttanahally, I. Chen, E. Reichenberger, A. Tadinada, A. Vaddi
{"title":"Three-dimensional radiographic features of craniometaphyseal dysplasia—a comparative CBCT study","authors":"K. S. Muttanahally, I. Chen, E. Reichenberger, A. Tadinada, A. Vaddi","doi":"10.1007/s44162-023-00009-8","DOIUrl":"https://doi.org/10.1007/s44162-023-00009-8","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48422456","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
Acute intermittent porphyria and spinal muscular atrophy: two rare diseases seen in one patient 急性间歇性卟啉症和脊髓性肌萎缩：一例患者的两种罕见疾病
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-03-01 DOI: 10.1007/s44162-023-00007-w
Sude Çavdaroğlu, Ilayda Altun, Elif Bilge Atasay, Gulshan Yunisova, P. Oflazer, G. Sezgin
{"title":"Acute intermittent porphyria and spinal muscular atrophy: two rare diseases seen in one patient","authors":"Sude Çavdaroğlu, Ilayda Altun, Elif Bilge Atasay, Gulshan Yunisova, P. Oflazer, G. Sezgin","doi":"10.1007/s44162-023-00007-w","DOIUrl":"https://doi.org/10.1007/s44162-023-00007-w","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43503173","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
Luteolin promotes KAT6A gene expression 木犀草素促进KAT6A基因表达
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-02-22 DOI: 10.1007/s44162-023-00008-9
P. Brun, M. Dettin, R. Vettor
{"title":"Luteolin promotes KAT6A gene expression","authors":"P. Brun, M. Dettin, R. Vettor","doi":"10.1007/s44162-023-00008-9","DOIUrl":"https://doi.org/10.1007/s44162-023-00008-9","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2023-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48408566","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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