Brucellosis in pregnancy: case reports with different outcomes in an endemic region.

Different outcomes of brucellosis in pregnancy regarding the fetus/neonate and the mother are described. Medical records of five pregnant women with brucellosis were retrospectively analyzed. Patients were treated in several departments of infectious diseases in the Republic of Macedonia between 1995 and 2009.

The influence of illness duration before diagnosis on clinical characteristics and outcome in human brucellosis.

Our study assesses the influence of illness duration before establishing the diagnosis of brucellosis and initiating therapy on patients' main clinical characteristics and outcome in an endemic area. The medical files of 297 patients with brucellosis were retrospectively analysed. They were divided into four groups according to illness duration before initiating therapy: <10 days; 11-30 days; 31-90 days; and >90 days.

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Inherited neuromuscular disorder (NMD) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene-by-gene diagnostics. We present Czech NMD patients with a genetic cause identified using targeted next-generation sequencing (NGS) and the spectrum of these causes.

Clinical characteristics of human brucellosis in patients with various monoarticular involvements.

The aim of the study was to determine the main demographic, epidemiological, clinical characteristics, and outcome in patients with various types of brucellar monoarticular involvement. Retrospectively, we analyzed medical histories of 331 patients with brucellar monoarticular involvement who were treated at the infectious diseases departments in Prilep, Shtip, and Veles, Republic of Macedonia, during the period 1990-2012. Their data were compared accordingly to the affected joint (sacroiliac, hip, knee, ankle, wrist, and shoulder).

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Background: Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene.