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Condition: Rare Diseases
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Total 294 results found since Jan 2013.
Study of Rivaroxaban for Cerebral Venous Thrombosis: A Randomized Controlled Feasibility Trial Comparing Anticoagulation With Rivaroxaban to Standard-of-Care in Symptomatic Cerebral Venous Thrombosis
CONCLUSIONS: Recruitment targets were reached, but many eligible participants declined randomization. There were numerically more bleeding events in patients taking rivaroxaban compared with control, but rates of bleeding and recurrent venous thromboembolism were low overall and in keeping with previous studies. Participants had symptoms affecting their well-being at enrollment but improved over time.REGISTRATION: URL: https://www.CLINICALTRIALS: gov; Unique identifier: NCT03178864.PMID:37675613 | DOI:10.1161/STROKEAHA.123.044113
Source: Atherosclerosis - September 7, 2023 Category: Cardiology Authors: Thalia S Field Vanessa Dizonno Mohammed A Almekhlafi Fouzi Bala Ibrahim Alhabli Hubert Wong Monica Norena Maria Karina Villaluna Princess King-Azote Namali Ratnaweera Steven Mancini Stephen C Van Gaal Laura K Wilson Brett R Graham Luciano A Sposato Dylan Source Type: research
Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients
Fabry disease (FD) is an X-linked lysosomal storage disease resulting from mutations of α-galactosidase A gene, and has been emphasized as one of the etiologies of young stroke and leukoencephalopathy. Vertebr...
Source: Orphanet Journal of Rare Diseases - July 10, 2023 Category: Internal Medicine Authors: Yan Lok Tiffany Lam, Bun Sheng, Hoi Ming Kwok, Ellen Lok Man Yu and Ka Fai Johnny Ma Tags: Research Source Type: research
Ischemic cerebrovascular complications with initial presentation of genetic atypical hemolytic uremic syndrome
Atypical hemolytic uremic syndrome (aHUS) is a rare disease, with scarce reports of neurologic manifestations in the acute setting. Ischemic cortical infarcts concurrently with aHUS presentation have not been described in adult patients.
Source: Journal of Stroke and Cerebrovascular Diseases - June 29, 2023 Category: Neurology Authors: Maria Sokola, Karlo Toljan, Allaa Almoushref, Zeshaun Khawaja, Tarek Ashour Tags: Case Report Source Type: research
Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1
Cardiovascular events such as myocardial infarction and stroke are life-threatening complications associated with Neurofibromatosis type 1 (NF1). As previous studies observed an association between cardiovascu...
Source: Orphanet Journal of Rare Diseases - June 23, 2023 Category: Internal Medicine Authors: Ana M. Cieza Rivera, Tania Fern ández-Villa, Vicente Martín and Isis Atallah Tags: Research Source Type: research
Hidden Bow Hunter's Syndrome Diagnosed Using Dynamic Cerebral Angiography and Successfully Treated with Spinal Surgery: A Case Report and Review of the Literature
Intern Med. 2023 Jun 7. doi: 10.2169/internalmedicine.1386-22. Online ahead of print.ABSTRACTHidden bow hunter's syndrome (HBHS) is a rare disease in which the vertebral artery (VA) occludes in a neutral position but recanalizes in a particular neck position. We herein report an HBHS case and assess its characteristics through a literature review. A 69-year-old man had repeated posterior-circulation infarcts with right VA occlusion. Cerebral angiography showed that the right VA was recanalized only with neck tilt. Decompression of the VA successfully prevented stroke recurrence. HBHS should be considered in patients with p...
Source: Internal Medicine - June 7, 2023 Category: Internal Medicine Authors: Satoshi Miyamoto Mikito Hayakawa Sho Okune Ryosuke Shintoku Akinari Yamano Takato Hiramine Toshihide Takahashi Hisayuki Hosoo Yoshiro Ito Aiki Marushima Masao Koda Eiichi Ishikawa Yuji Matsumaru Source Type: research
When does life end? New organ donation strategy fuels debate
On a chilly holiday Monday in January 2020, a medical milestone passed largely unnoticed. In a New York City operating room, surgeons gently removed the heart from a 43-year-old man who had died and shuttled it steps away to a patient in desperate need of a new one.
More than 3500 people in the United States receive a new heart each year. But this case was different—the first of its kind in the country. “It took us 6 months to prepare,” says Nader Moazami, surgical head of heart transplantation at New York University (NYU) Langone Health, where the operation took place. The run-up included oversight from an ethi...
Source: ScienceNOW - May 11, 2023 Category: Science Source Type: news
C-reactive protein and D-dimer in cerebral vein thrombosis: Relation to clinical and imaging characteristics as well as outcomes in a French cohort study
CONCLUSION: Two widely available biomarkers measured upon admission, especially hs-CRP, could help predict bad prognosis in CVST in addition to patient characteristics. These results need to be validated in other cohorts.PMID:37138790 | PMC:PMC10149398 | DOI:10.1016/j.rpth.2023.100130
Source: Thrombosis and Haemostasis - May 4, 2023 Category: Hematology Authors: Paul Billoir Virginie Siguret Elisabeth Masson Fron Ludovic Drouet Isabelle Crassard Rapha ël Marlu Marianne Barbieux-Guillot Pierre-Emmanuel Morange Emmanuelle Robinet Catherine Metzger Val érie Wolff Elisabeth Andr é-Kerneis Fr édéric Klapczynski B Source Type: research
Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy
J Clin Med Res. 2023 Feb;15(2):76-83. doi: 10.14740/jocmr4843. Epub 2023 Feb 28.ABSTRACTClassical homocystinuria is a hereditary defect of the enzyme cystathionine beta synthase, which is produced in the liver. If this enzyme fails, the synthesis pathway of cysteine from methionine is interrupted, leading to the accumulation of homocysteine in the blood plasma and homocysteine in the urine. After birth, the children are unremarkable except for the characteristic laboratory findings. Symptoms rarely appear before the second year of life. The most common symptom is a prolapse of the crystalline lens. This finding is seen in ...
Source: Clin Med Res - March 10, 2023 Category: Research Authors: Stefan Bittmann Gloria Villalon Elena Moschuring-Alieva Elisabeth Luchter Lara Bittmann Source Type: research
