To investigate the prevalence and genotype-phenotype correlations of phosphatase tensin homolog induced putative kinase 1 (PINK1) variants in Parkinson's disease (PD) patients, we analyzed 1700 patients (842 familial PD 858 sporadic from Japanese origin). We screened entire exon exon-intron boundaries PINK1 using Sanger sequencing target by Ion torrent system. identified 30 with heterozygous va...

AIM 22q11.2 deletion syndrome (22q11.2DS) affects catechol-O-methyl-transferase (COMT), which involves the degradation of norepinephrine (NE). Clinically, adults with 22q11.2DS are at increased risk for sudden unexpected death. Although the causes are likely multifactorial, increased cardiac sympathetic activity with subsequent fatal arrhythmia, due to increased levels of NE, should be consider...

Patients with chronic heart failure (CHF) and left ventricular ejection fraction (LVEF) ≤ 35% are at increased risk for sudden cardiac death (SCD). These patients are likely to receive an implantable cardioverter defibrillator (ICD), effective in reducing the occurrence of SCD in primary prevention. The decision to use an ICD in CHF, according to the current guidelines, is based on New York Hea...

he sympathetic nervous system of the heart is critically involved in the maintenance of cardiovascular homoeostasis by regulating cardiac contractility, conduction, heart frequency and peripheral vasoconstriction.1 It has been shown that a dysfunctional cardiac sympathetic nervous system exerts detrimental effects on the structural and functional integrity of the myocardium, leading to a marked...

In idiopathic Parkinson's disease (PD), a generalized Lewy body type-degeneration in the brain as well as extracranial organs was identified. It is unclear, whether cerebral and extracranial Lewy body type-degeneration in PD are coupled or not. To address this question, cerebral [(123)I]FP-CIT SPECT - to quantify cerebral nigrostriatal dopaminergic degeneration - and myocardial [(123)I]MIBG sci...

INTRODUCTION Paragangliomas (PGLs) related to hereditary syndromes are rare mediastinal tumors. Paragangliomas are caused by mutations in genes encoding subunits of succinate dehydrogenase enzyme (SDH). AIM To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related to SDHx gene mutations. MATERIAL AND METHODS Retrospective analysis of 75 patients w...

Heart failure is a life-threatening disease with a growing incidence in the Netherlands. This growing incidence is related to increased life expectancy, improvement of survival after myocardial infarction and better treatment options for heart failure. As a consequence, the costs related to heart failure care will increase. Despite huge improvements in treatment, the prognosis remains unfavoura...