Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary vascular disorder causing ischaemic attacks and strokes in middle-aged adults. Though the clinical spectrum includes some typical symptoms, recognition of the disease, especially at an earlier stage, is very difficult because of the highly variable manifestation and incomplete clinical picture. Characteristic brain MRI findings and the presence of pathogenic variants in the NOTCH3 gene are fundamental for CADASIL diagnosis.

Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.

Sensenbrenner syndrome is a very rare autosomal recessive disorder caused by variants in genes involved in the functional development of primary cilia. Typical clinical manifestations include craniofacial and skeletal abnormalities, hence the alternative name cranioectodermal dysplasia. Chronic kidney disease due to progressive tubulointerstitial nephritis (nephronophthisis) has been described in these patients.

Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.

Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast ovarian cancer (HBOC) cases. However, after BRCA1 and BRCA2 screening still the most HBOC cases remain negative for any mutational event. Accordingly, in these cases raises the relevance to analyze the unusual BRCA1/2 variants of uncertain clinical significance.

[Nijmegen breakage syndrome in Slovakia].

Background: The autosomal recessive Nijmegen breakage syndrome (NBS) is a DNA repair disorder due to a mutation in the NBS1 gene on 8q21. Hyperradiosensitivity and high risk for lymphoreticular malignancy are important reasons for early diagnosis and prevention by avoidance of ionisation. The frequency of NBS heterozygotes of the mutation 657de15, which is predominant in the Slavic population was estimated to be in the range of 1:90-1:314 in different parts of Poland, and 1:128-154 among Czech newborns, born 20 years ago.

Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period.

The study describes a dysmorphic newborn infant with life-threating anomaly, later diagnosed as trisomy 18, mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. The establishment of the correct diagnosis in the first days of life is very important for the decision-making process, because trisomy 18 has a poor prognosis, and treatment is not instituted, whereas cholesterol supplementation may be of benefit to patients with Smith-Lemli-Opitz syndrome. Ultraviolet spectrophotometry showed very easy and rapid method for differentiation of both syndromes, where gas chromatography/mass spectrometry analysis is not available.

Variability in kyphomelic dysplasia.

Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In the first family, sibling recurrence in female sibs was noted with atypical kyphomelic dysplasias, suggesting autosomal recessive inheritance. In the second family, with a male affected with the 'typical findings' of lethal kyphomelic dysplasia, diagnosis of a skeletal dysplasia was suspected at 29-30 weeks' gestation following US detection of short, bent femurs.

Lethal kyphomelic dysplasia.

A lethal form of kyphomelic dysplasia with severe bowing of the long bones of the lower extremities is reported.

[The effect of physical stress on rheological properties of blood].

The influence of physical load on blood viscosity was observed in the presented study. Three groups of persons were examined: 23 volleyball and football players, 96 employees of a nuclear power plant, and 49 employees of a coal power plant. The values of blood viscosity and hematocrit were determined in the quiescent state before the load, after the performance of 2W.

Alkaptonuria in the Trencín District of Czechoslovakia.

For several years the Clinical Genetics Research Laboratory at Martin, Czechoslovakia, has been studying alkaptonuria (AU) in the northern part of the District of Trencín in Slovakia. These affected individuals are part of a group of 103 alkaptonurics originated mostly in the mountainous parts of Slovakia. We report results of pedigree analyses; population and affected-family biochemical urine screening; estimation of inbreeding coefficient, of exogamy rate and of average marital distance and of calculation of the frequency of the AU allele, and of homozygotes and heterozygotes in this portion of the Trencín District.