Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Circ Genom Precis Med

Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.

Published: March 2019

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.118.002395DOI Listing

Publication Analysis

Top Keywords

delayed diagnosis
4
diagnosis danon
4
danon disease
4
disease patients
4
patients presenting
4
presenting isolated
4
isolated cardiomyopathy
4
delayed
1
danon
1
disease
1

Similar Publications

Malaria has become widespread, especially in sub-Saharan Africa, owing to disruptions experienced during the Covid-19 pandemic. Both cerebral malaria and acute kidney injury are important indicators of severe malaria. Depending on the degree of acute renal failure, hemodialysis/hemofiltration treatment is required.

View Article and Find Full Text PDF

In patients presenting with post-malarial anemia following intravenous artesunate treatment, post-artesunate delayed hemolysis should be considered in the differential diagnosis, even in endemic settings. Close monitoring for signs of delayed hemolysis in patients previously treated with intravenous artesunate for severe malaria, regardless of their malaria exposure history or geographic location is crucial.

View Article and Find Full Text PDF

Purpose: This study aims to assess the diagnostic efficacy of conventional ultrasound (CUS) and contrast-enhanced ultrasound (CEUS) in detecting fat-poor angiomyolipomas(AML) with dimensions less than 5 cm. Additionally, the study seeks to identify independent indicators for predicting the presence of fat-poor AML.

Methods: We conducted a retrospective analysis of patients diagnosed with renal AML and renal cell carcinoma, who were admitted and underwent surgery at Fujian Provincial Hospital from January 2013 to October 2023.

View Article and Find Full Text PDF

Small cell lung carcinoma metastatic to the stomach: Commonly overlooked, limited treatment options.

World J Gastroenterol

December 2024

Diagnostic and Molecular Pathology, The Ottawa Hospital and University of Ottawa, Ottawa K1H 8L6, Ontario, Canada.

Small cell lung carcinoma metastatic to the stomach, whether synchronous or metachronous, is a rare phenomenon accounting for < 0.5% of lung cancers. Hence it can be overlooked by clinicians resulting in delayed diagnosis.

View Article and Find Full Text PDF

Advancing early diagnosis of inflammatory bowel disease: A call for enhanced efforts.

World J Gastroenterol

December 2024

Department of Gastroenterology and Hepatology/Medical Engineering Integration Laboratory of Digestive Endoscopy, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.

The diagnosis of inflammatory bowel disease (IBD) is complicated by its nonspecific clinical presentation and the limited accuracy of existing biomarker tests, frequently resulting in significant delays from the time of symptom onset to the achievement of a definitive diagnosis. Thus, improving the early identification of IBD remains a crucial focus for gastroenterologists. Blüthner innovatively utilized medical data from German IBD patients to investigate risk factors contributing to these diagnostic delays.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!