Genetic polymorphisms of 17 short tandem repeat loci on Y chromosome in central Croatian population

In forensic casework, Y-chromosome short tandem repeat (STR) haplotyping is used in human identification, paternity testing and sexual assault cases where Y-STRs provide a male-specific DNA profile. The aim of this study was to describe the genetic structure of Y chromosome in a central Croatian population. We carried out a statistical analysis of the data from previously performed genetic analyses collected during routine forensic work by the Forensic Science Centre “Ivan Vučetić”. A total of 220 unrelated healthy men from central Croatia were selected for the purpose of this study. Genomic DNA was extracted using a Chelex procedure from FTA^? cards. Y-chromosomal STRs were determined using the AmpFISTR Yfiler PCR amplification kit. The haplotype frequencies were determined by direct counting and analyzed using Arlequin 3.1 and analysis of molecular variance calculated with the Y chromosome haplotype reference database online analysis tool. A total of 212 haplotypes were identified, 204 of which were unique. Total haplotype diversity was 0.993. Locus diversity varied from 0.325 for DYS392 to 0.786 for DYS385. Discrimination capacity was 92.7%. Allele frequencies diversity was 0.615. Intermediate alleles 17.2, 18.2 and 19.2 were found at DYS458 locus. A comparison with published data for the European minimal haplotype set showed the closest relationship to the Croatian capital of Zagreb and Bosnia and Herzegovina with significant genetic distance from Slovenia and Austria. The central Croatian population is now well characterized in terms of Y-chromosome STRs, thus providing a solid basis for further forensic and genetic epidemiology studies.     

Personal resources supporting living at home as described by older home care clients

This study describes the personal resources of older (≥ 75 years) home care clients in Finland and their perceptions of factors that enhance and constrain their ability to live independently at home. The data were collected by unstructured interviews with 21 older home care clients. Inductive content analysis were used to analyse the data. The resources of older people consisted of a sense of control over one's life and a determination to remain active. Factors enhancing older people's resources were their involvement in leisure activities and social networks, factors undermining their resources were conditions on living imposed by outsiders, declining health and loneliness. The results show that home care professionals do not yet have sufficient skills and abilities to identify and support older people's existing resources. As well as having access to necessary resources, it is also crucial that older people know how to use them.     

A scoring tool to predict mortality and dependency after cerebral venous thrombosis

Background and purpose

A prognostic score was developed to predict dependency and death after cerebral venous thrombosis (CVT) to identify patients for targeted therapy in future clinical trials.

Methods

Data from the International CVT Consortium were used. Patients with pre-existent functional dependency were excluded. Logistic regression was used to predict poor outcome (modified Rankin Scale score 3–6) at 6 months and Cox regression to predict 30-day and 1-year all-cause mortality. Potential predictors derived from previous studies were selected with backward stepwise selection. Coefficients were shrunk using ridge regression to adjust for optimism in internal validation.

Results

Of 1454 patients with CVT, the cumulative number of deaths was 44 (3%) and 70 (5%) for 30 days and 1 year, respectively. Of 1126 patients evaluated regarding functional outcome, 137 (12%) were dependent or dead at 6 months. From the retained predictors for both models, the SI₂NCAL₂C score was derived utilizing the following components: absence of female-sex-specific risk factor, intracerebral hemorrhage, infection of the central nervous system, neurological focal deficits, coma, age, lower level of hemoglobin (g/l), higher level of glucose (mmol/l) at admission, and cancer. C-statistics were 0.80 (95% confidence interval [CI] 0.75–0.84), 0.84 (95% CI 0.80–0.88) and 0.84 (95% CI 0.80–0.88) for the poor outcome, 30-day and 1-year mortality model, respectively. Calibration plots indicated a good model fit between predicted and observed values. The SI₂NCAL₂C score calculator is freely available at www.cerebralvenousthrombosis.com .

Conclusions

The SI₂NCAL₂C score shows adequate performance for estimating individual risk of mortality and dependency after CVT but external validation of the score is warranted.     

Incidental demyelination in magnetic resonance imaging and 10-year risk of multiple sclerosis: A data lake cohort study

Background and purpose

There is an absence of data from large population-based cohort studies on the incidence of radiologically isolated syndrome (RIS). The incidence of RIS and the subsequent risk for multiple sclerosis (MS) were investigated.

Methods

A population-based, retrospective cohort study was conducted using a data-lake-based analysis of digitalized radiology reports. All brain and spinal cord magnetic resonance imaging (MRI) in people aged 16–70 during the years 2005–2010 (n = 102,224) were screened using optimized search terms to detect cases with RIS. The subjects with RIS were followed up until January 2022.

Results

The cumulative incidence of RIS was 0.03% when all MRI modalities were included and 0.06% when only brain MRI was included according to MAGNIMS 2018 recommendation criteria. With the Okuda 2009 criteria, the respective figures were 0.03% and 0.05% (86% concordance). The overall risk for MS after RIS was similar, 32% by using the MAGNIMS and 32% by using the Okuda definition of RIS. Individuals aged <35.5 years exhibited the most significant predisposition to MS (80%), whilst those >35.5 years had less than 10% risk of MS. MS diagnosed after RIS constituted 0.8% of the incident MS cases in the population during 2005–2010.

Conclusions

A population-wide context was provided for the incidence of RIS and its relationship to MS. MAGNIMS recommendations were only slightly more sensitive to detect RIS compared to the Okuda criteria. RIS has a subtle effect on the overall incidence of MS, yet the risk for MS in individuals under the age of 35.5 years is substantial.     

Focal adhesion formation of primary human gingival fibroblast on hydrothermally and in-sol-made TiO2-coated titanium

Optimal cell adhesion of the gingival fibroblasts to dental implants is important for maintaining good implant integration. The aim of this study was to discover, if the nanoporous TiO₂-coating on titanium alloy substrates is able to increase the cell adhesion of the human gingival fibroblasts (HGF). The study consisted of three differently produced titanium groups: hydrothermally produced TiO₂-coating (HT), novel TiO₂-coating made in sol (SOL), and noncoated control group. Primary HGF cells were initiated from gingival biopsies from patients having a third molar extraction. HGF were cultivated on titanium discs for 2 and 24 h to determine the initial attachment with confocal microscope. The cell spreading and adhesion protein signals were measured. In addition, expression of adhesion proteins vinculin, paxillin, and focal adhesion kinase (FAK) were measured after 3 days of cultivation by using Western Blotting. Higher protein levels of paxillin, vinculin, and FAK were induced on both coated discs compared to noncoated discs. The difference was statistically significant (p < 0.05) concerning expression of paxillin. The cell spreading was significantly larger on SOL discs after 2 and 24 h when comparing to noncoated controls. The confocal microscope analyses revealed significantly higher adhesion protein signals on both HT- and SOL-coated titanium compared to control group. This study showed, that both methods to produce TiO₂-coatings are able to increase HGF adhesion protein expression and cell spreading on titanium surface. Accordingly, the coatings can potentially improve the gingival attachment to titanium implant surfaces.