Misdiagnosis of Intrahepatic Biliary Cystadenoma Located in Caudate Lobe: A Case Report.

CONCLUSION: The experience and lessons of misdiagnosis in this case may help other clinicians diagnose the rare disease accurately. PMID: 30947661 [PubMed - as supplied by publisher]
Source: Combinatorial Chemistry and High Throughput Screening - Category: Chemistry Authors: Tags: Comb Chem High Throughput Screen Source Type: research

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Today, the U.S. Food and Drug Administration granted approval to Givlaari (givosiran) for the treatment of adult patients with acute hepatic porphyria, a genetic disorder resulting in the buildup of toxic porphyrin molecules which are formed during the production of heme (which helps bind oxygen in the blood).
Source: World Pharma News - Category: Pharmaceuticals Tags: Featured FDA Regulatory Affairs Source Type: news
(NYS Institute for Basic Research in Developmental Disabilities) An international research team led by Dr. Gholson Lyon of the New York State Office for People With Developmental Disabilities' Institute for Basic Research in Developmental Disabilities announced publication in Human Mutation of findings from its study of the rare disease TAF1 syndrome. The team previously identified the syndrome, caused by pathogenic variants involving the X-linked gene TAF1, in 11 families. In this recent study, the researchers identified an additional 27 families with the syndrome.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
Authors: Yoshida M, Naitoh I, Hayashi K, Jinno N, Natsume M, Hori Y, Kato A, Kachi K, Asano G, Matsuo Y, Takahashi S, Kataoka H Abstract Pancreatic serous cystic neoplasms (SCNs), such as serous cystadenoma (SCA), are generally recognized as benign because malignant counterparts of SCNs have been extremely rare. In clinical practice, pancreatic cystic neoplasms diagnosed as SCNs have been managed by conservative observation, as long as the patients remained asymptomatic. We herein report a case of metachronous ductal adenocarcinoma that was discovered during long-term follow-up of SCN and review the related literat...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Recent advances in rare diseases research are accelerated by the work of consortia that have been supported by the National Institutes for Health. Development of such consortia rely on multi-disciplinary relationships and engagement with patient advocacy groups as well as the NIH, industry and academic partners. In this Rostrum, we present the development of such a process that focuses on eosinophilic gastrointestinal diseases (EGIDs). Principal investigators, patient advocacy groups, research assistants and trainees work together to perform natural history studies that promote clinical trial readiness tools, conduct clini...
Source: Journal of Allergy and Clinical Immunology - Category: Allergy & Immunology Authors: Source Type: research
New Jersey dad declares war on son's incurable disease - Duchenne Muscular Dystrophy. JAR of Hope nonprofit funds start of medical infusions to slow rare disease that effects 20,000 in U.S.
Source: Disabled World - Category: Disability Tags: USA - Americas Source Type: news
Kapila Awasthi, Ranjana Arya, Alok Bhattacharya, Sudha BhattacharyaNeurology India 2019 67(5):1213-1219 Inherited neuromuscular diseases are a heterogeneous group of rare diseases for which the low general awareness leads to frequent misdiagnosis. Advances in DNA sequencing technologies are changing this situation, and it is apparent that these diseases are not as rare as previously thought. Knowledge of the pathogenic variants in patients is helping in research efforts to develop new therapies. Here we present a review of current knowledge in GNE myopathy, a rare neuromuscular disorder caused by mutations in the GNE gene...
Source: Neurology India - Category: Neurology Authors: Source Type: research
Conclusion: Precise preoperative diagnosis of pancreatic schwannomas is very difficult despite the application of multiple imaging modalities. Surgery is the most effective treatment for this rare disease and the final diagnosis usually relies on pathology. Following complete tumor removal, patients with pancreatic schwannomas generally have a good prognosis.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
ConclusionIn our opinion every patient more than 50 years old presenting in emergency department with clinical symptoms of acute appendicitis must undergo CT and open surgery should be favoured against laparoscopic surgery.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
CONCLUSIONIn our opinion every patient more than 50 years old presenting in emergency department with clinical symptoms of acute appendicitis must undergo CT and open surgery should be favoured against laparoscopic surgery.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
We report a case of appendiceal mucinous cystadenoma that was successfully diagnosed preoperatively and treated by laparoscopic resection. We could find volcano sign on colonoscopy and cystic lesion without any nodules at the appendix on computed tomography (CT). Without any malignant factors in preoperative examinations, we performed laparoscopic appendectomy including the cecal wall. We could avoid performing excessive operation for cystadenoma with accurate preoperative diagnosis and intraoperative finding and pathological diagnosis during surgery. Appendiceal mucocele is a rare disease that is divided into 3 pathologic...
Source: Case Reports in Gastroenterology - Category: Gastroenterology Source Type: research
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