Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder that can be an autosomal-dominant, autosomal-recessive, or X-linked disease. The most common autosomal-dominant form of the disease derives from mutations in the SPAST gene.
Methods: The aim of this study was to analyze 49 patients diagnosed with HSP from the Estonian population for sequence variants of the SPAST gene and to describe the associated phenotypes.
The aim of this study is to establish the prevalence of fragile X syndrome among Estonian mentally retarded and also among the entire children's population born during the years 1984-2005. The study group consisted of 516 patients (448 boys and 68 girls) who were screened for full mutations in the FMR1 gene during the period 1997-2006. Fourteen boys (2.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
January 2009
Objective: The aim of our study was to identify the IVS2-2A>G sequence change in the SLC26A5 (Prestin) gene in Estonian individuals with hearing loss and in their family members.
Methods: In the years 2005-2007 we have screened 194 probands with early onset hearing loss and 68 family members with an arrayed primer extension (APEX) microarray, which covers 201 mutations in six nuclear genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5) and two mitochondrial genes encoding 12S rRNA and tRNA-Ser (UCN).
Results: In four probands with early onset hearing loss and in five unaffected family members from five families we identified the IVS2-2A>G change in one allele of the SLC26A5 gene.
Objective: To evaluate the occurrence of mycoplasmas in the semen of chronic prostatitis patients.
Material And Methods: Genital mycoplasmas (Mycoplasma hominis, Mycoplasma genitalium, Ureaplasma urealyticum, Ureaplasma parvum) were sought in the semen of 121 chronic prostatitis patients [38 National Institutes of Health (NIH) category IIIa, 59 NIH category IIIb and 24 NIH category IV] and 40 controls. The commercially available kit Mycoplasma IST was applied to the semen samples of all 161 men, and polymerase chain reaction (PCR) to those of 60 randomly selected men.
Manifestations of human genital herpes virus (HSV) infection are not limited to the typical cluster of genital lesions. Here we present 5 case histories suggestive to clinically atypical genital herpes (HSV detected with the polymerase chain reaction) collected in 2001 from a private outpatient clinic specializing in dermatological and venereal diseases. The clinical presentations included mucopurulent cervicitis, haemorrhagic cystitis, recurrent urethritis, and lower back pain.
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