International Journal of Rare Diseases and Disorders最新文献

{"title":"Carotid Paragangliomas Related to Form Involving Multiple Systems (Syndromes and Diseases): A Systematic Literature Review","authors":"F. Lozano-Sánchez, Angel Muñoz MD, José A de las Heras MD, R. González-Sarmiento, M. García-Cenador","doi":"10.23937/2643-4571/1710024","DOIUrl":"https://doi.org/10.23937/2643-4571/1710024","url":null,"abstract":"Carotid paragangliomas are infrequent tumours, generally single, non-functional and benign. Nevertheless, the biology of these tumours occasionally means they are bilateral, multicentric, functional and malignant. Such infrequency and the different ways they manifest themselves pose a diagnostic/therapeutic challenge that is reflected in the final outcomes. According to the Shamblin classification, 75% of carotid paragangliomas are either Type I (tumour smaller than 4 cm, weakly attached to the carotid arteries, and can be surgically excised in a straightforward manner) or Type II (tumour larger than 4 cm, partially surrounding the carotid arteries, and attached to the vascular adventitia), and 25% of cases are Type III, completely surrounding the carotid bifurcation, firmly attached, so vessel replacement may be considered. Fewer than 5% of carotid paragangliomas are associated with syndromes (e.g., von Hippel-Lindau disease and Carney triad) or diseases (e.g., thyroid cancer and thymoma), which further complicate their treatment. Morbidity and mortality rates in these cases are clearly different. This review sets out to address carotid paragangliomas related to syndromes and diseases, with their references being very widely distributed in the literature, with the aim being to highlight their idiosyncrasies of clinical, diagnostic and therapeutic interest. This has involved a systematic literature review of the Medline and Cochrane Library databases up to 1 November 2019, locating 26 articles involving a total of 37 patients. Conclusions: 1) Patients with these exceptional combinations present major clinical complexity; 2) They pose a medical challenge, with the diagnostic strategy being vitally important (search for associated synchronous and metachronous tumours) together with the therapeutic process (surgical times and priorities); and 3) There must be interdisciplinary cooperation across the different medical specialisms involved.","PeriodicalId":350067,"journal":{"name":"International Journal of Rare Diseases and Disorders","volume":"120 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122590580","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}

{"title":"A Rare Case of an Ascending Aorta and Aortic Arch Aneurysm with an Aberrant Right Common Carotid Artery and a Proximal Descending Aortic Ectasia","authors":"Mikhail M. Olalo, S. Guillermo","doi":"10.23937/2643-4571/1710026","DOIUrl":"https://doi.org/10.23937/2643-4571/1710026","url":null,"abstract":"Ascending aortic aneurysms are asymptomatic and are usually discovered as an incidental finding on chest imaging. However, larger aneurysms can present with symptoms resulting from compression of surrounding structures including the trachea, bronchi, and the esophagus which can result in hoarseness, cough chest pain or back pain. The presence of an aortic arch anomaly, specifically an aberrant right common carotid artery, in a background of an aortic arch aneurysm is extremely rare with a worldwide incidence of < 1%. They are usually asymptomatic but can result to catastrophic life-threatening events and pose significant challenges to surgical or endovascular treatment. This is a case of a 63-year-old Filipino male who presented with a sudden onset of dull back pain radiating to the left anterior chest. Workup revealed an ascending and aortic arch aneurysm with an aberrant right common carotid artery arising directly from the transverse aorta. Surgical aortic arch debranching was done to repair the aberrant vessels prior to Thoracic Endovascular Aortic Repair (TEVAR) wherein a custom-made Thoracic Valiant graft was deployed on the aneurysm. The patient was discharged on the 4th day after TEVAR without any complaints of dyspnea, back pain nor chest pain with no neurologic and visceral organ dysfunction. This case has emphasized that knowledge on the anatomy of the aortic arch is imperative in planning out thoracic surgery and endovascular interventions especially on rare anatomic anomalies such as seen in this case.","PeriodicalId":350067,"journal":{"name":"International Journal of Rare Diseases and Disorders","volume":"189 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132058473","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}

{"title":"First Case of Gyrate Atrophy with Hyperornithinemia in Cuba Diagnosed by Ornithine Levels and Ophthalmological Evaluation","authors":"J. Roura, Zoe Robaina, Ivette Camayd Viera, J. González-Gómez, E. P. García, L. Martínez-Rey, David Padrón Aurelio","doi":"10.23937/ijrdd-2017/1710002","DOIUrl":"https://doi.org/10.23937/ijrdd-2017/1710002","url":null,"abstract":"• Page 1 of 7 • Citation: Jiovanna CR, Zoe R, Ivette CV, González-Gómez JC, Pérez GE, et al. (2018) First Case of Gyrate Atrophy with Hyperornithinemia in Cuba Diagnosed by Ornithine Levels and Ophthalmological Evaluation. Int J Rare Dis Disord 1:002 Received: December 11, 2017; Accepted: March 27, 2018 ; Published: March 29, 2018 Copyright: © 2018 Jiovanna CR, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.","PeriodicalId":350067,"journal":{"name":"International Journal of Rare Diseases and Disorders","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132092497","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}

{"title":"Concurrent Breast Cancer and Thymoma in an Immune Reconstituted HIV Positive Patient","authors":"Winceslaus Sj, S. Venkateshwaran, H. Julia, S. Ramsay","doi":"10.23937/IJRDD-2017/1710003","DOIUrl":"https://doi.org/10.23937/IJRDD-2017/1710003","url":null,"abstract":"• Page 1 of 2 • Citation: Winceslaus SJ, Sivaraj V, Hall J, Singer R (2018) Concurrent Breast Cancer and Thymoma in an Immune Reconstituted HIV Positive Patient. Int J Rare Dis Disord 1:003 Received: March 10, 2018; Accepted: April 19, 2018 ; Published: April 21, 2018 Copyright: © 2018 Winceslaus SJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.","PeriodicalId":350067,"journal":{"name":"International Journal of Rare Diseases and Disorders","volume":"98 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126091836","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}

{"title":"Retinal Overload Individualized during Hurler-Scheie Disease: Case Study Observations","authors":"Hamma Amine","doi":"10.23937/ijrdd-2017/1710004","DOIUrl":"https://doi.org/10.23937/ijrdd-2017/1710004","url":null,"abstract":"• Page 1 of 3 • Citation: Hamma A (2018) Retinal Overload Individualized during Hurler-Scheie Disease: Case Study Observations. Int J Rare Dis Disord 1:004 Accepted: July 09, 2018 ; Published: July 11, 2018 Copyright: © 2018 Hamma A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.","PeriodicalId":350067,"journal":{"name":"International Journal of Rare Diseases and Disorders","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116862697","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}