Primary hyperoxaluria type-1 (PH1) is a rare inherited autosomal recessive disorder in which a deficiency of the hepatic enzyme alanine-glyoxylate aminotransferase leads to endogenous oxalate overproduction, renal failure, systemic oxalate deposition and death. As hemodialysis provides insufficient oxalate clearance, patients ultimately require both liver and kidney transplantation for correcti...

Introduction Hypertrophic cardiomyopathy (HCM) is a common disorder of cardiac muscle associated with sudden cardiac death (SCD). HCM is defined by increased left ventricular wall thickness or mass, in the absence of abnormal loading conditions to account for the observed abnormality. In most adults, the disease is inherited as an autosomal dominant trait and is caused by mutations in cardiac s...

Electromyographic (EMG) and histological studies were carried out with the new mouse mutant myotonia (mto, autosomal recessive). Affected animals exhibited behavioral myotonia which was apparent at 2 weeks of age. EMG studies revealed myotonic discharges (prolonged repetitive discharges with recurrent variation in amplitude and frequency) in all skeletal muscles tested. These discharges were no...

OBJECTIVE Sticky platelet syndrome (SPS) is a common autosomal dominant inherited platelet disorder. SPS is characterized by platelet hyperreactivity and is associated with arterial and venous thrombosis. The aim of this study was to determine the role of SPS in patients with uninduced venous thrombosis. MATERIAL AND METHODS The study included 28 patients (15 male and 13 female) with uninduce...

Cardiac conduction defects associate with mutations in SCN5A, the gene encoding the cardiac Na+ channel. In the present study, we characterized a family in which the proband was born in severe distress with irregular wide complex tachycardia. His older sister died at 1 year of age from severe conduction disease with similarly widened QRS-complexes. Mutational analysis of SCN5A in the proband de...

The factors that determine symptom penetrance in inherited disease are poorly understood. Increasingly, magnetic resonance diffusion tensor imaging (DTI) and PET are used to separate alterations in brain structure and function that are linked to disease symptomatology from those linked to gene carrier status. One example is DYT1 dystonia, a dominantly inherited movement disorder characterized b...

Acquired and inherited thrombophilic factors increase the risk for (recurrent) venous thrombotic disease. However, little is known about the pathophysiological mechanisms causing these recurrences, or the persistence of thrombosis despite adequate treatment. Because residual thrombosis has been associated with a worse prognostic outcome, we performed an explorative study in order to investigate...

OBJECTIVE Recently, an increasing number of Korean male conscripts have been retiring because of military maladjustment despite the presence of qualifying medical and psychological screening tests in the Korean army. These problems suggest the presence of a common personality problem. To further examine this possibility, the present study used Cloninger's psychobiological model to investigate t...

Background. The aim of the present study was to investigate the relationships between personality and quality of life during the course of geriatric rehabilitation, against the background of Cloninger's biosocial theory of personality. Methods. All consecutive patients of a geriatric rehabilitation clinic during one year were evaluated at admission and discharge (N = 687) by means of the ''Vien...