Association between vertebral cross-sectional area and lumbar disc displacement - a population-based study.

Purpose: Vertebral dimensions may constitute a potential risk factor for degenerative changes in the spine. Previous studies have found a positive association between vertebral height and both type 2 Modic changes and intervertebral disc height loss. Also, vertebral endplate size has been associated with disc degeneration.

Timing of pacemaker and ICD implantation in mutation carriers.

Aims: cardiomyopathy is often associated with pathology in the cardiac conduction system necessitating device implantations. The aim was to study the timing and types of device implantations and need for re-implantations in mutation carriers.

Methods: We studied the hospital records of 60 mutation carriers concerning device implantations and re-implantations and their indications.

Clinical disease presentation and ECG characteristics of mutation carriers.

Objective: Mutations in the gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5-8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among mutation carriers.

Methods: Clinical follow-up data from 27 mutation carriers and 78 patients with idiopathic DCM without an mutation were collected.

Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers: a follow-up study.

Background: LMNA mutations are an important cause of cardiomyopathy often leading to cardiac arrhythmias, heart failure and even heart transplantation. An increasing number of asymptomatic mutation carriers are identified, as family members of the index patients are screened. Our aim was to study the disease progression in asymptomatic LMNA mutation carriers and in patients with symptomatic cardiolaminopathy by repeated spiroergometric testing in a prospective clinical follow-up study.

Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy.

Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, the founder mutation c.427T>C (p.

Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.

Background: Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic cardiomyopathy. We aimed to define the distinct characteristics of PRKAG2 using cardiovascular magnetic resonance (CMR).

Methods: CMR (1.

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

Aims: Despite our increased understanding of the genetic basis of dilated cardiomyopathy (DCM), the clinical utility and yield of clinically meaningful findings of comprehensive next-generation sequencing (NGS)-based genetic diagnostics in DCM has been poorly described. We utilized a high-quality oligonucleotide-selective sequencing (OS-Seq)-based targeted sequencing panel to investigate the genetic landscape of DCM in Finnish population and to evaluate the utility of OS-Seq technology as a novel comprehensive diagnostic tool.

Methods And Results: Using OS-Seq, we targeted and sequenced the coding regions and splice junctions of 101 genes associated with cardiomyopathies in 145 unrelated Finnish patients with DCM.