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The implementation of home-care robots is sometimes unsuccessful. This study aimed to explore factors explaining people's willingness to use home-care robots, particularly among care recipients and caregivers. Surveys were conducted in Japan, Ireland, and Finland. The survey questionnaire comprised four categories (familiarity with robots, important points about home-care robots, functions expected from home-care robots, and ethically acceptable uses), with 48 items assessing users' willingness to use home-care robots. The responses from 525 Japanese, 163 Irish, and 170 Finnish respondents were analyzed to identify common and distinct factors influencing their willingness to use these robots. Common factors across the countries included "willingness to participate in research and development," "interest in robot-related news," and "having a positive impression of robots". The distinct factors for each country were: "convenience" in Japan; "notifying family members and support personnel when an unexpected change occurs in an older person" in Ireland; and "design" in Finland. Therefore, developers should determine potential users' willingness to participate in the research and development of home-care robots and consider a system that involves them in the development process., Competing Interests: Declarations Competing interests The authors declare no competing interests., (© 2024. The Author(s).)

Introduction: Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development aka developmental split-brain syndrome is an ultra-rare congenital disorder caused by pathogenic biallelic variants in the deleted in colorectal cancer ( DCC ) gene., Case Presentation: We report the clinical and genetic characterization of a Syrian patient with a HGPPS2 phenotype and review the previously published cases of HGPPS2. The genetic screening was performed using exome sequencing on Illumina platform. Genetic analysis revealed a novel DCC c.(?_1912)_(2359_?)dup, p.(Ser788Tyrfs*4) variant segregating recessively in the family. This type of variant has not been described previously in the HGPPS2 patients. To date, including the case reported here, three different homozygous pathogenic frameshift variants, one homozygous missense variant, and an intragenic duplication in the DCC gene have been reported in 8 patients with the HGPPS2 syndrome., Conclusion: The analysis of duplications and deletions in the DCC should be included in the routine genetic diagnostic evaluation of patients with suspected HGPPS2. This report expands the knowledge of phenotypic and genotypic spectrum of pathogenic variants causing HGPPS2., Competing Interests: The authors have no conflicts of interest to declare., (© 2023 The Author(s). Published by S. Karger AG, Basel.)

Background: Pesticides are identified as one of the major reasons for the global pollinator decline. However, the sublethal effects of pesticide residue levels found in pollen and nectar on pollinators have been studied little. The aim of our research was to study whether oral exposure to the thiacloprid levels found in pollen and nectar affect the learning and long-term memory of bumble bees. We tested the effects of two exposure levels of thiacloprid-based pesticide (Calypso SC480) on buff-tailed bumble bee (Bombus terrestris) in laboratory utilizing a learning performance and memory tasks designed to be difficult enough to reveal large variations across the individuals., Results: The lower exposure level of the thiacloprid-based pesticide impaired the bees' learning performance but not long-term memory compared to the untreated controls. The higher exposure level caused severe acute symptoms, due to which we were not able to test the learning and memory., Conclusions: Our results show that oral exposure to a thiacloprid-based pesticide, calculated based on residue levels found in pollen and nectar, not only causes sublethal effects but also acute lethal effects on bumble bees. Our study underlines an urgent demand for better understanding of pesticide residues in the environment, and of the effects of those residue levels on pollinators. These findings fill the gap in the existing knowledge and help the scientific community and policymakers to enhance the sustainable use of pesticides., (© 2023. The Author(s).)

Conscripts are exposed to various sources of impulse noise despite hearing protection recommendations. The aim of this study was to investigate the frequency of acute acoustic trauma (AAT) among conscripts after exposure to assault rifle noise in the Finnish Defence Forces (FDF). This nationwide population-based cohort comprised all conscripts (>220,000) in the FDF during the years 1997-2003 and 2008-2010. We included those who claimed to have AAT symptoms from assault rifle noise during the study periods. During the investigated 10 years, 1617 conscripts (annual variation, 75-276) experienced a new hearing loss due to AAT. Altogether, 1456 (90%) of all AAT-induced hearing losses were caused by rifle-caliber weapons and 1304 (90%) of them when firing a blank cartridge. There was no clear diminishing trend in the annual numbers of AATs. In 1277 (88%) incidents, no hearing protector was used. Tinnitus was the most prominent symptom. Hearing losses after AAT were typically mild, but serious deficits also occurred. In conclusion, we found that 0.7-1.5% of the conscripts experienced an AAT during their service in the FDF. Most incidents occurred when firing a blank cartridge with a rifle-caliber weapon and with no hearing protector in use.

Due to life-threatening complications, vascular Ehlers-Danlos syndrome (vEDS) is the most severe form of EDS. Because the syndrome is associated with a shortened life expectancy and variable clinical presentation, diagnosis confirmed by genetic testing is crucial to determining appropriate treatment. Despite some distinguishing features, this rare disease often goes unrecognized. Apart from surgical or endovascular treatment of serious vascular complications, medical treatment based on celiprolol helps reduce arterial complications. We report on a case of vEDS in a young man who suffered several episodes of severe vascular complications. The diagnosis of vEDS was established based on clinical manifestations and confirmed by genetic testing. A novel heterozygous pathogenic variant in the COL3A1 gene was found. To our knowledge, this is the first case of vEDS caused by this variant.

Background: Familial dilated cardiomyopathy (DCM) is a monogenic disorder typically inherited in an autosomal dominant pattern. We have identified two Finnish families with familial cardiomyopathy that is not explained by a variant in any previously known cardiomyopathy gene. We describe the cardiac phenotype related to homozygous truncating GCOM1 variants. Methods and Results: This study included two probands and their relatives. All the participants are of Finnish ethnicity. Whole-exome sequencing was used to test the probands; bi-directional Sanger sequencing was used to identify the GCOM1 variants in probands' family members. Clinical evaluation was performed, medical records and death certificates were obtained. Immunohistochemical analysis of myocardial samples was conducted. A homozygous GCOM1 variant was identified altogether in six individuals, all considered to be affected. None of the nine heterozygous family members fulfilled any cardiomyopathy criteria. Heart failure was the leading clinical feature, and the patients may have had a tendency for atrial arrhythmias. Conclusions: This study demonstrates the significance of GCOM1 variants as a cause of human cardiomyopathy and highlights the importance of searching for new candidate genes when targeted gene panels do not yield a positive outcome., Competing Interests: Authors IS, SA, HJ, JT, MT, JH, PS, MMU, JS, PS, MG, JP, SM, T-PA, and JK were employed by the company Blueprint Genetics, A Quest Diagnostics Company. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Heliö, Mäyränpää, Saarinen, Ahonen, Junnila, Tommiska, Weckström, Holmström, Toivonen, Nikus, Hathaway, Siivonen, Muona, Sistonen, Salmenperä, Gentile, Paananen, Myllykangas, Alastalo, Heliö and Koskenvuo.)

Spinal muscular atrophy is a severe autosomal recessive disease caused by disruptions in the SMN1 gene. The nearly identical SMN2 gene copy number is associated with disease severity. SMN1 duplication markers, such as c.∗3+80T>G and c.∗211_∗212del, can assess residual carrier risk. An SMN2 disease modifier (c.859G>C) can help inform prognostic outcomes. The emergence of multiple precision gene therapies for spinal muscular atrophy requires accurate and rapid detection of SMN1 and SMN2 copy numbers to enable early treatment and optimal patient outcomes. We developed and evaluated a single-tube PCR/capillary electrophoresis assay system that quantifies SMN1/2 copy numbers and genotypes three additional clinically relevant variants. Analytical validation was performed with human cell lines and whole blood representing varying SMN1/2 copies on four capillary electrophoresis instrument models. In addition, four independent laboratories used the assay to test 468 residual clinical genomic DNA samples. The results were ≥98.3% concordant with consensus SMN1/2 exon 7 copy numbers, determined using multiplex ligation-dependent probe amplification and droplet digital PCR, and were 100% concordant with Sanger sequencing for the three variants. Furthermore, copy number values were 98.6% (SMN1) and 97.1% (SMN2) concordant to each laboratory's own reference results., (Copyright © 2021 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)

Background: The quality of family-centered care and parental participation in care in neonatal units differ widely across the world. Appropriate education might be an effective way to support medical staff in neonatal units to collaborate with parents and implement family-centered care. The aim of this study was to evaluate the effects of the educational intervention on the quality of family-centered care in eight Finnish neonatal intensive care units from both the staff and parent perspectives., Methods: A mixed-method pre-post intervention study was conducted in eight neonatal intensive care units in Finland. Data were collected from staff and parents using the Bliss Baby Charter audit tool and semi-structured interviews., Results: The quality of family-centered care, as assessed by staff and parents, increased significantly after the intervention in all eight units. The intervention was able to help staff define and apply elements of family-centered care, such as shared decision making and collaboration between parents and staff. In interviews, staff described that they learned to support and trust the parents' ability to take care of their infant., Conclusions: The educational intervention increased the quality of family-centered care and enabled mutual partnership between parents and staff., Impact: This study shows that the educational intervention for the whole multi-professional staff of the neonatal unit improved the quality of family-centered care. The Close Collaboration with Parents intervention enabled mutual partnership between parents and staff. It also provides evidence that during The Close Collaboration with Parents intervention staff learned to trust the parents' ability to take care of their infant.

Background: Traditionally, the care of infants in neonatal care units has been professionally centered, paying less attention to family support. In recent years, many interventions have been developed to improve family-centered care and thereby parent and infant outcomes. Understanding the key factors of implementation of these interventions would help improve clinical practice. The aim of this study was to describe the staff's perceptions of the implementation of the Close Collaboration with Parents Training Program and to identify the barriers and facilitators of the implementation., Methods: A descriptive qualitative interview study was conducted in eight neonatal intensive care units in Finland. Nineteen unit managers and 32 nurses were interviewed after their unit had finished the 1.5-year training program. Data were analyzed using thematic content analysis., Results: Key factors facilitating the implementation of the training program were multidisciplinary commitment and the staff's motivation to change their professional role to work as the parents' facilitator. Observable benefits promoted the implementation, as well as experiential learning as a facilitation method. The role of mentor was remarkable as a facilitator. In addition, contextual elements such as support from leadership and proper timing were important., Conclusions: Implementation of family-centered care is facilitated by staff who is prepared to accept parents as partners and adopt a new professional role. Enough time for preparation, readiness for the change, solid support from the leadership, and a multidisciplinary approach are needed as well. Mentoring was found to be one of the key factors facilitating the change.

Prenatal alcohol exposure (PAE) can harm the embryonic development and cause life-long consequences in offspring's health. To clarify the molecular mechanisms of PAE we have used a mouse model of early alcohol exposure, which is based on maternal ad libitum ingestion of 10% (v/v) ethanol for the first eight days of gestation (GD 0.5-8.5). Owing to the detected postnatal growth-restricted phenotype in the offspring of this mouse model and both prenatal and postnatal growth restriction in alcohol-exposed humans, we focused on imprinted genes Insulin-like growth factor 2 (Igf2), H19, Small Nuclear Ribonucleoprotein Polypeptide N (Snrpn) and Paternally expressed gene 3 (Peg3), which all are known to be involved in embryonic and placental growth and development. We studied the effects of alcohol on DNA methylation level at the Igf2/H19 imprinting control region (ICR), Igf2 differentially methylated region 1, Snrpn ICR and Peg3 ICR in 9.5 embryonic days old (E9.5) embryos and placentas by using MassARRAY EpiTYPER. To determine alcohol-induced alterations globally, we also examined methylation in long interspersed nuclear elements (Line-1) in E9.5 placentas. We did not observe any significant alcohol-induced changes in DNA methylation levels. We explored effects of PAE on gene expression of E9.5 embryos as well as E9.5 and E16.5 placentas by using quantitative PCR. The expression of growth promoter gene Igf2 was decreased in the alcohol-exposed E9.5 and E16.5 placentas. The expression of negative growth controller H19 was significantly increased in the alcohol-exposed E9.5 embryos compared to controls, and conversely, a trend of decreased expression in alcohol-exposed E9.5 and E16.5 placentas were observed. Furthermore, increased Snrpn expression in alcohol-exposed E9.5 embryos was also detected. Our study indicates that albeit no alterations in the DNA methylation levels of studied sequences were detected by EpiTYPER, early PAE can affect the expression of imprinted genes in both developing embryo and placenta.

· Much of the macroecological information about microorganisms is confounded by the lack of standardized methodology, paucity of metadata and sampling effect of a particular substrate or interacting host taxa. · This study aims to disentangle the relative effects of biological, geographical and edaphic variables on the distribution of Alnus-associated ectomycorrhizal (ECM) fungi at the global scale by using comparable sampling and analysis methods. · Ribosomal DNA sequence analysis revealed 146 taxa of ECM fungi from 22 Alnus species across 96 sites worldwide. Use of spatial and phylogenetic eigenvectors along with environmental variables in model selection indicated that phylogenetic relations among host plants and geographical links explained 43 and 10%, respectively,in ECM fungal community composition, whereas soil calcium concentration positively influenced taxonomic richness. · Intrageneric phylogenetic relations among host plants and regional processes largely account for the global biogeographic distribution of Alnus-associated ECM fungi. The biogeography of ECM fungi is consistent with ancient host migration patterns from Eurasia to North America and from southern Europe to northern Europe after the last glacial maximum, indicating codispersal of hosts and their mycobionts., (© 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.)