A5013711099- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Congenital heart defects research
- Viral Infections and Immunology Research
- Blood groups and transfusion
- Cancer-related molecular mechanisms research
- Trypanosoma species research and implications
- Platelet Disorders and Treatments
- Ocular Oncology and Treatments
- melanin and skin pigmentation
- Cutaneous Melanoma Detection and Management
- Cardiovascular Function and Risk Factors
Region Jönköpings län
2018-2024
Linköping University
2013-2024
Ryhov Hospital Jönköping
2022
Platelets are small anucleate cells circulating in the blood vessels where they play a key role hemostasis and thrombosis. Here, we compared platelet RNA-Seq results obtained from polyA+ mRNA rRNA-depleted total RNA.We used purified, CD45 depleted, human platelets collected by apheresis three male one female healthy donors. The Illumina HiSeq 2000 platform was employed to sequence cDNA converted either oligo(dT) isolated RNA or RNA. reads were aligned GRCh37 reference assembly with...
Abstract Myocarditis most often affects otherwise healthy athletes and is one of the leading causes sudden death in children young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) a genetically determined heart muscle disorder with increased risk for paroxysmal arrhythmias cardiac death. The clinical picture myocarditis ARVC may overlap during early stages cardiomyopathy, which lead to misdiagnosis. In literature, we found several cases that presented episodes ended up...
Introduction: Sudden cardiac death (SCD) and early onset cardiomyopathy (CM) in the young will always lead to suspicion of an underlying genetic disorder. Incited by rapid advances testing for disease we have revisited families, which previously tested “gene-negative” familial predominantly pediatric CM, hopes finding a causative gene variant. Methods: 10 different families with non-syndromic CM or hypertrophic (HCM) severe progression and/or heredity HCM/CM related SCD results were...
Abstract Hypertrophic cardiomyopathy (HCM) is a primary autosomal‐dominant disorder of the myocardium with variable expressivity and penetrance. Occasionally, homozygous sarcomere genetic variants emerge while genotyping HCM patients. In these cases, more severe phenotype generally seen. Here, we report case that was diagnosed clinically at 39 years age. Initial symptoms were shortness breath during exertion. Successively, he developed wide array clinical manifestations, which progressed to...
<title>Abstract</title> Background and Aims Hypertrophic cardiomyopathy (HCM), the most common inherited cardiomyopathy, is characterized by phenotypic genetic heterogeneity. The present study describes genotype data of a Swedish cohort patients with HCM, largest genetics on HCM to date. primary aims this were unravel main findings explore genotype-phenotype associations in cohort. Methods Results: Longitudinal 225 unrelated index from Southeast health care region Sweden 2010 until 2021...
A 64-year-old caucasian male, with a left eye choroidal nevus, was diagnosed nodular cutaneous melanoma of the head, which radically excised. He experienced metastatic relapse in lungs, treated for 2 years nivolumab, an immune checkpoint inhibitor programmed cell death 1 (PD-1) receptor. The patient has had annual follow-ups his nevus. At control follow-up after start nevus unexpectedly disappeared. To our knowledge, this is second reported case literature disappearance associated PD-1...