KBTBD13 is a novel cardiomyopathy gene.

KBTBD13 variants cause nemaline myopathy type 6 (NEM6). The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.

Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions.

Background: Inherited cardiac conditions present with a wide range of symptoms and may even result in sudden cardiac death. Relatives of probands with a confirmed pathogenic genetic variant are advised predictive DNA testing to enable prevention and treatment. In 2 previous cohort studies of 115 probands with a pathogenic variant, family uptake of genetic counseling was assessed in the first year(s) after test result disclosure to the proband.

False-negative type-specific glycoprotein G antibody responses in STI clinic patients with recurrent HSV-1 or HSV-2 DNA positive genital herpes, The Netherlands.

Objectives: Herpes simplex virus (HSV) type-discriminating antibody tests (glycoprotein G (gG) directed) are used to identify naïve persons and differentiate acute infections from recurrences. We studied test characteristics of three commercially available antibody tests in patients with recurrent (established by viral PCR tests) herpes simplex virus type 1 (HSV-1) or herpes simplex virus type 2 (HSV-2) genital herpes episodes.

Methods: Serum samples (at minimum 3 months after t=0) were examined for the presence of gG-1-specific or gG-2-specific antibodies using the HerpeSelect 1 and 2 Immunoblot IgG, the HerpeSelect 1 and 2 enzyme linked immunoassays IgG and the LIAISON HSV-1 and HSV-2 IgG indirect chemiluminescence immunoassays.

Haplotype sharing test maps genes for familial cardiomyopathies.

Identifying a mutation in a heterogeneous disease such as inherited cardiomyopathy is a challenge because classical methods, like linkage analysis, can often not be applied as there are too few meioses between affected individuals. However, if affected individuals share the same causal mutation, they will also share a genomic region surrounding it. High-density genotyping arrays are able to identify such regions shared among affected individuals.

[A man with acute scrotal swelling].

A 33-year-old man had scrotal pruritus followed by an acute scrotal and proximal penile shaft swelling, due to adult acute idiopathic scrotal edema.

Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide.

In this part of a series on founder mutations in the Netherlands, we review a Dutch family carrying the SCN5a 1795insD mutation. We describe the advances in our understanding of the premature sudden cardiac deaths that have accompanied this family in the past centuries. The mutation carriers show a unique overlap of long-QT syndrome (type 3), Brugada syndrome and progressive cardiac conduction defects attributed to a single mutation in the cardiac sodium channel gene SCN5a.

Family letters are an effective way to inform relatives about inherited cardiac disease.

Increasing numbers of individuals are being referred to cardiogenetics outpatient clinics with potentially inherited arrhythmia (ARR) or cardiomyopathy (CM). To inform relatives at-risk, we ask index patients to distribute "family letters" containing information on the risks, possible genetic and other screenings, and preventive options. We assessed the responses to these letters in terms of referrals to a cardiologist and/or clinical geneticist.

How supercontinents and superoceans affect seafloor roughness.

Seafloor roughness varies considerably across the world's ocean basins and is fundamental to controlling the circulation and mixing of heat in the ocean and dissipating eddy kinetic energy. Models derived from analyses of active mid-ocean ridges suggest that ocean floor roughness depends on seafloor spreading rates, with rougher basement forming below a half-spreading rate threshold of 30-35 mm yr(-1) (refs 4, 5), as well as on the local interaction of mid-ocean ridges with mantle plumes or cold-spots. Here we present a global analysis of marine gravity-derived roughness, sediment thickness, seafloor isochrons and palaeo-spreading rates of Cretaceous to Cenozoic ridge flanks.

Calculating the pressure and the stiffness in three different categories of class II medical elastic compression stockings.

Background: Medical elastic compression stockings (MECSs) are currently classified according to the pressure they exert at the ankle at the point of its minimum girth (B level). Despite this classification, there are considerable differences between MECSs belonging to the same compression class from the same manufacturers and between different manufacturers. This makes it difficult for the clinician to choose the most suitable MECS for the patient.

Evaluation of a fully automated glycoprotein G-2 based assay for the detection of HSV-2 specific IgG antibodies in serum and plasma.

Background: Ranking after infections with Chlamydia trachomatis and human papillomavirus, genital herpesvirus is the third most common sexually transmitted disease. The majority of recurrent genital herpes infections are caused by herpes simplex virus type-2 (HSV-2). Seroepidemiological studies on the prevalence of HSV-2 specific IgG antibodies are especially important to study the impact of this infection among risk groups.

Detection of light and flicker at low luminance levels in the human peripheral visual system. I. Psychophysical experiments.

The interaction between summation and adaptation mechanisms near the absolute threshold of vision is studied. In this paper, results are presented of measurements of both light detection and flicker detection for circular flashes with a diameter of 5.7-480 min of arc, a flash duration of 5-1000 msec, a period of 0-8000 msec, and at eccentricities of 7 and 40 deg in the temporal retina.