[Potter sequence in a newborn with polycystic kidney disease].

A rare clinical case of a newborn boy with a diagnosed Potter sequence is presented. The diagnosis was made based on polycystic dysplasia of the kidneys, cysts in the liver, hypoplasia of the lungs and characteristic external signs due to critical oligohydramnios. The child's parents were closely related, which suggested an autosomal recessive form of the disease.

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Locus mapping has uncovered diverse etiologies for familial atrial fibrillation (AF), dilated cardiomyopathy (DCM), and mixed cardiac phenotype syndromes, yet the molecular basis for these disorders remains idiopathic in most cases. Whole-exome sequencing (WES) provides a powerful new tool for familial disease gene discovery. Here, synergistic application of these genomic strategies identified the pathogenic mutation in a familial syndrome of atrial tachyarrhythmia, conduction system disease (CSD), and DCM vulnerability.

Cardiac myosin binding protein-C restricts intrafilament torsional dynamics of actin in a phosphorylation-dependent manner.

We have determined the effects of myosin binding protein-C (MyBP-C) and its domains on the microsecond rotational dynamics of actin, detected by time-resolved phosphorescence anisotropy (TPA). MyBP-C is a multidomain modulator of striated muscle contraction, interacting with myosin, titin, and possibly actin. Cardiac and slow skeletal MyBP-C are known substrates for protein kinase-A (PKA), and phosphorylation of the cardiac isoform alters contractile properties and myofilament structure.

[The questionnaire "alcohol anosognosia" is a new tool for assessment of anosognosia in patients with alcohol dependence].

The aim of this study was to develop and validate a patient-rated questionnaire for the complex express-assessment of alcohol anosognosia. The questionnaire was tested in 106 inpatients diagnosed with alcohol dependence (ICD-10, item F10.2).