Grey-platelet syndrome is a rare familial platelet impairment characterised by lack of alpha granules and giant vacuolated platelets. A Mexican family with grey-platelet syndrome associated to Marfan disease is presented. The family was comprised of 22 members, of whom 3 (the propositus and two of his nephews) could be studied. Two of them, with haemorrhagic symptoms since childhood, had moderate prolongation of the Ivy bleeding time which improved after DDAVP administration, plus moderate thrombocytopenia, giant platelets and abnormal platelet aggregation induced by adrenalin, ADP and collagen. Platelet factor 4 was normal. Electron microscope examination of platelets showed lack of alpha granules and increased dense bodies. The rarity of the casual association of two low-frequency genetic diseases, namely Marfan disease and the grey-platelet syndrome, is commented, along with the response attained with DDAVP in the two affected individuals.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.
Orphanet J Rare Dis
January 2025
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Oslo, Norway.
Introduction: The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.
Method: A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11).
Outcomes after open repair of aortic aneurysms and dissections in cannabis consumers.
JTCVS Open
December 2024
Department of Cardiothoracic and Vascular Surgery, McGovern Medical School at UTHealth Houston, Houston, Tex.
Objective: To investigate the influence of cannabis consumption on the mid- and long-term surgical outcomes of patients with aortic aneurysms or dissections.
Methods: All individuals aged 18 years and older with more than 6 months of cannabis use at the time of surgical repair for cardiovascular disease (aortic aneurysms or aortic dissection) between 2007 and 2023 were eligible. Patients were stratified into 2 groups based on their preoperative history of cannabis use: cannabis users and noncannabis users.
[Analysis of FBN1 gene mutations in six Chinese pedigrees affected with Marfan syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou, Zhejiang 318050, China.
Objective: To determine the types of genetic variants in six Chinese pedigrees affected with Marfan syndrome (MFS) and analyze their clinical characteristics and molecular pathogenesis.
Methods: Six MFS pedigrees presented at the Taizhou Enze Medical Center (Group) between 2017 and 2022 were selected as the study subjects. Clinical data of pedigrees were retrospectively analyzed.
The Etiology of Intraocular Lens Dislocation and Changes in Intraocular Pressure After Intrascleral Intraocular Lens Fixation Surgery.
Cureus
December 2024
Ophthalmology and Visual Science, Chiba University Graduate School of Medicine, Chiba, JPN.
Objectives This study aimed to identify the etiology and the direction of dislocation of the natural crystalline lens or intraocular lens (IOL) in IOL intrascleral fixation surgery and to determine the change in intraocular pressure (IOP) after surgery. Methods We retrospectively investigated the diagnosis, direction of lens and IOL dislocation, and IOP before and after surgery (preoperatively and one day, one week, and one month postoperatively) in 236 eyes from 228 patients who underwent IOL intrascleral fixation at Chiba University Hospital between February 2015 and September 2020. Results IOL intrascleral fixation was performed in 48 (20.
View Article and Find Full Text PDFInterpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Genome Med
December 2024
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.
Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.
View Article and Find Full Text PDFWant 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!