Nationwide screening for Fabry disease in unselected stroke patients.

Background And Aims: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients.

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.

Introduction: Next-generation sequencing is now used on a routine basis for molecular testing but studies on copy-number variant (CNV) detection from next-generation sequencing data are underrepresented. Utilizing an existing whole-exome sequencing (WES) dataset, we sought to investigate the contribution of rare CNVs to the genetic causality of dystonia.

Methods: The CNV read-depth analysis tool ExomeDepth was applied to the exome sequences of 953 unrelated patients with dystonia (600 with isolated dystonia and 353 with combined dystonia; 33% with additional neurological involvement).

Monogenic variants in dystonia: an exome-wide sequencing study.

Background: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the major clinical categories of dystonia.

Recommendations for cerebrospinal fluid analysis.

Diseases of the central nervous system (CNS) mean for the human organism a potentially dangerous situation. An investigation of cerebrospinal fluid (CSF) provides important information about a character of CNS impairment in the decision-making diagnostic and therapeutic algorithm. The authors present a brief overview of available cerebrospinal fluid assays, shortened indication criteria, a recommended algorithm of CSF assessment in different suspected diseases, and a view of the external quality system.

[Reproductive capacity and milk production in cows of various cattle breeds as related to age at the ist calving].

The course of parturition, the ability to get in-calf, and milk production were studied in 348 first-calved cows, in 162 cows of the Bohemian Spotted breed, 88 cows of the Black-Pied Lowland breed, and 98 crossbreds of these two breeds divided into three categories according to the age at the first calving (from 21 to 23 months, 24 months, and from 25 to 29 months). There were only slight differences in the average calf birth weight between the cows of all the breeds calving for the first time before the age of 24 months and cows calving later (lower by 0.70 kg, 1.

[Conception ability of early mated heifers of Bohemiam spotted and black-pied lowland cattle and their crossbreeds].

The conception rate of heifers was studied in dependence on their age and body weight at the first mating. The trial included 163 heifers of the Bohemian Spotted breed, 72 heifers of the Black-Pied Lowland breed, and 101 crossbreds between these two breeds. The heifers of the Bohemian Spotted breed mated for the first time at the age of 12 months had a lower weight than required by the standard (336 kg -- standard requires 360 kg) and a lower weight than the heifers of the other breeds under study.