We report on the long QT syndrome occurring in conjunction with nontoxic multinodular goiter and sensorineural deafness in several siblings of a large family. Autosomal and X-linked recessive and dominant modes of inheritance are possible for the different phenotypes. The affected family members had various phenotype combinations, suggesting variable expressivity and incomplete penetrance.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.amjcard.2009.10.034 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Indications and recipient outcomes of adult left lobe living donor liver transplantation.
Updates Surg
January 2025
Department of Pediatric Surgery and Transplantation, Kumamoto University Graduate School of Medical Sciences, 1-1-1, Honjo, Chuo-Ku, Kumamoto, 860-8556, Japan.
Adult left lobe living donor liver transplantation has long been practiced nearly exclusively in Japan. To overcome the potential risks of small-for-size syndrome and hepatic venous outflow obstruction associated with the use of left lobe grafts, center-specific countermeasures such as splenectomy, meticulous hepatic venous reconstruction, and inclusion of the caudate lobe have been implemented, resulting in short- and long-term results comparable with those of right lobe graft in high-volume centers. A recent systematic review and meta-analysis confirmed these observations; however, the indications and techniques of adult left lobe living donor liver transplantation have yet to be standardized.
View Article and Find Full Text PDFMobile Applications for Longitudinal Data Collection: Web-based Survey Study of Former Intensive Care Patients.
J Med Syst
January 2025
Department of Intensive Care Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany.
Purpose: Mobile health plays an important role in providing individualized information about the health status of patients. Limited information exists on intensive care unit (ICU) patients with the risk of suffering from the post-intensive care syndrome (PICS), summarizing long-term physical, mental and cognitive impairment. This web-based survey study aims to identify specific needs of former ICU patients for utilizing a newly developed, so called Post-Intensive Care Outcome Surveillance (PICOS) app to collect relevant PICS-related parameters.
View Article and Find Full Text PDF[Chronic pain syndrome in musculoskeletal diseases-how different are fibromyalgia and long COVID?-Part 2].
Z Rheumatol
January 2025
Rheumatologisches Versorgungszentrum Steglitz, Schloßstr. 110, 12163, Berlin, Deutschland.
Acute and chronic pain play an important part in the care of patients with musculoskeletal diseases. For rheumatologists this represents a frequent challenge. For the management of chronic pain conditions in rheumatology those that cannot be explained by objective tissue damage are particularly important-which makes patients' subjective assessment of pain a central building block of the diagnosis.
View Article and Find Full Text PDF[Chronic pain syndrome in musculoskeletal diseases-how different are fibromyalgia and long Covid?-Part 1].
Z Rheumatol
January 2025
Rheumatologisches Versorgungszentrum Steglitz, Schloßstr. 110, 12163, Berlin, Deutschland.
Chronic pain is a common problem in rheumatology. Nociceptive pain is distinguished from neuropathic and nociplastic pain. Mechanistically, the former is explained by persistent inflammation, for example.
View Article and Find Full Text PDFBilateral macronodular adrenocortical disease (BMAD): a single centre experience.
Endocr Connect
January 2025
T Bandgar, Endocrinology , Seth Gordhandas Sunderdas Medical College, Mumbai, India.
Background: Data on bilateral macronodular adrenocortical disease (BMAD) with respect to computed tomography (CT) scan characteristics (attenuation and washout) and long-term follow-up is limited. This study aims to describe BMAD patients managed in a single centre.
Methods: BMAD was defined by the presence of bilateral adrenal macronodules (>1cm) on CT.
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!