Bacterial human virulence genes across diverse habitats as assessed by <i>In silico</i> analysis of environmental metagenomes

The occurrence and distribution of clinically relevant bacterial virulence genes across natural (non-human) environments is not well understood. We aimed to investigate the occurrence of homologues to bacterial human virulence genes in a variety of ecological niches to better understand the role of natural environments in the evolution of bacterial virulence. Twentyfour bacterial virulence genes were analyzed in 47 diverse environmental metagenomic datasets, representing various soils, seawater, freshwater, marine sediments, hot springs, the deep-sea, hypersaline mats, microbialites, gutless worms and glacial ice. Homologues to 17 bacterial human virulence genes, involved in urinary tract infections, gastrointestinal diseases, skin diseases, and wound and systemic infections, showed global ubiquity. A principal component analysis did not demonstrate clear trends across the metagenomes with respect to occurrence and frequency of observed gene homologues. Full-length (>95%) homologues of several virulence genes were identified, and translated sequences of the environmental and clinical genes were up to 50-100% identical. Furthermore, phylogenetic analyses indicated deep branching positions of some of the environmental gene homologues, suggesting that they represent ancient lineages in the phylogeny of the clinical genes. Fifteen virulence gene homologues were detected in metagenomes based on metatranscriptomic data, providing evidence of environmental expression. The ubiquitous presence and transcription of the virulence gene homologues in non-human environments point to an important ecological role of the genes for the activity and survival of environmental bacteria. Furthermore, the high degree of sequence conservation between several of the environmental and clinical genes suggests common ancestral origins

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for its function. TMPRSS3 undergoes proteolytic cleavage and activates the ENaC sodium channel in a Xenopus oocyte model system. To assess the importance of this gene in non-syndromic childhood or congenital deafness in Turkey, we screened for mutations affected members of 25 unrelated Turkish families. The three families with the highest LOD score for linkage to chromosome 21q22.3 were shown to harbor P404L, R216L, or Q398X mutations, suggesting that mutations in TMPRSS3 are a considerable contributor to non-syndromic deafness in the Turkish population. The mutant TMPRSS3 harboring the novel R216L missense mutation within the predicted cleavage site of the protein fails to undergo proteolytic cleavage and is unable to activate ENaC, thus providing evidence that pre-cleavage of TMPRSS3 is mandatory for normal functio

Test-retest reliability and agreement of lower-extremity kinematics captured in squatting and jumping preschool children using markerless motion capture technology

The clinimetric properties of new technology should be evaluated in relevant populations before its implementation in research or clinical practice. Markerless motion capture is a new digital technology that allows for data collection in young children without some drawbacks commonly encountered with traditional systems. However, important properties, such as test-retest reliability, of this new technology have so far not been investigated. We recorded 63 preschool children using markerless motion capture (The Captury GmbH, Saarbrüken, Germany) while they performed squats and standing broad jumps. A retest session was conducted after 1 week. Recordings from the test session were processed twice to estimate the software-driven instrumental variability. Recordings from the first and second test sessions were compared to evaluate the week-to-week test-retest reliability. Statistical tests included 95% limits of agreement and intraclass correlations of absolute agreement (ICC). Jump length performance and four kinematic variables demonstrated acceptable instrumental variability (ICC &gt; 0.76). The week-to-week reliability was excellent for jump length performance (ICC = 0.90) but poor to moderate (ICC &lt; 0.55) for the kinematic variables. Our results indicate that preschool children exhibit considerable intra-individual kinematic variation from week-to-week during jump landings and squats. Consequently, we suggest that future work should explore individuals with persistent extreme kinematics over multiple test-sessions

Hur patienter med opioidberoende upplever omvårdnaden vid LARO-behandling : En allmän litteraturöversikt

Bakgrund: Personer med opioidberoende är till sin omfattning mer än 26 miljoner människor världen över. Läkemedelsassisterad rehabilitering av opioidberoende (LARO) i kombination med omvårdnad och psykosocial behandling är en effektiv behandlingsmetod vid opioidberoende. Målen med LARO-behandling är utöver att minska dödligheten att personer med opioidberoende ska få ökad psykisk och fysisk hälsa samt få ett socialt fungerande liv. Klinisk erfarenhet visar dock att det finns svårigheter med att kvarhålla personer i LARO-behandling, vilket ofta leder till att personer i stället avlider. Sjuksköterskan har ett ansvar att ge omvårdnad på ett personcentrerat tillvägagångssätt i samband med behandling och kunskap som en sjuksköterska besitter kan hjälpa till att förbättra vårdresultaten i en LARO-behandling. Syfte: Syftet med studien var att belysa hur vuxna patienter med opioidberoende upplever omvårdnad vid LARO-behandling (läkemedelsassisterad rehabilitering vid opioidberoende). Metod: En allmän litteraturöversikt genomfördes där resultatet baserades på nio vetenskapliga artiklar med kvalitativ ansats som inhämtats genom systematiska sökningar i databaserna PubMed och CHINAL. Data analyserades i enlighet med Fribergs analys bestående av fem steg. Resultat: Analysen resulterade i tre huvudkategorier med sex tillhörande subkategorier. Huvudkategorierna var: Sjuksköterskan villkorar LARO-behandlingen, Vårdrelationen med sjuksköterskan och Utmaningar i tillgängligheten. Subkategorierna var: Begränsad delaktighet, Stigmatisering, Vikten av en god relation, Brister med informationen, Begränsad tillgänglighet och Avsaknaden av omvårdnadsutbud. Slutsats: Patienter med opioidberoende upplevde LARO-behandlingen som villkorad. Patienter upplevde bristande delaktighet gällande omvårdnaden. Upplevelse av stigmatisering kopplat till omvårdnaden framkom även. Patienter upplevde att de misstänkliggjordes efter flertalet år i behandling. Brister avseende tillgänglighet kopplat till LARO-behandlingen identifierades. Relationen till sjuksköterskan upplevdes vara en viktig del i behandlingen. Relationen skulle bidra till att bygga förtroende, reducera stigma och upplevas accepterande. Rådgivande samtal tillsammans med medicinering ansågs vara den viktigaste aspekten i behandlingen.Background: People with substance use disorder are to its extent more than 26 million people worldwide. LARO treatment (drug-assisted rehabilitation in opioid dependence) for people with substance use disorder in combination with other nursing care and psychosocial treatment is an effective treatment for people with substance use disorder. The goals of LARO treatment are for people with opioid dependence to have increased mental and physical health, have a socially functioning life and a reduced mortality. However, clinical experience shows that there are difficulties in retaining people in LARO treatment, which often leads to people dying instead. The nurse has a responsibility to provide nursing in a person-centered approach. Knowledge that a nurse possesses can help improve care outcomes in a LARO treatment. Aim: The purpose of the study was to highlight how adult patients with opioid dependence experience nursing care during LARO treatment. Method: A literature review was conducted where the results were based on nine scientific articles with qualitative approaches obtained through systematic searches in the databases PubMed and CINAHL. The data was analyzed in accordance with Friberg's analysis that consists of five steps. Results: The analysis led to three main categories with six associated subcategories. The main categories were following: The nurse conditions the treatment, The care relationship and Accessibility challenges. The associated categories were: Limited participation, Stigma, The imprtance of a good relationship, Deficiencies with the information, Limited availability and Lack of nursing services. Conclusion: Patients with opioid dependence experienced LARO treatment as conditional and experienced a lack of participation. Experiences of stigma linked to nursing emerged. Deficiencies regarding accessibility linked to the LARO treatment were identified. The relationship with the nurse was perceived to be an important part of the treatment. The relationship would help build trust, reduce stigma, and be perceived as accepting. Counseling along with medication was considered the most important aspect of treatment

Hur patienter med opioidberoende upplever omvårdnaden vid LARO-behandling : En allmän litteraturöversikt

Bakgrund: Personer med opioidberoende är till sin omfattning mer än 26 miljoner människor världen över. Läkemedelsassisterad rehabilitering av opioidberoende (LARO) i kombination med omvårdnad och psykosocial behandling är en effektiv behandlingsmetod vid opioidberoende. Målen med LARO-behandling är utöver att minska dödligheten att personer med opioidberoende ska få ökad psykisk och fysisk hälsa samt få ett socialt fungerande liv. Klinisk erfarenhet visar dock att det finns svårigheter med att kvarhålla personer i LARO-behandling, vilket ofta leder till att personer i stället avlider. Sjuksköterskan har ett ansvar att ge omvårdnad på ett personcentrerat tillvägagångssätt i samband med behandling och kunskap som en sjuksköterska besitter kan hjälpa till att förbättra vårdresultaten i en LARO-behandling. Syfte: Syftet med studien var att belysa hur vuxna patienter med opioidberoende upplever omvårdnad vid LARO-behandling (läkemedelsassisterad rehabilitering vid opioidberoende). Metod: En allmän litteraturöversikt genomfördes där resultatet baserades på nio vetenskapliga artiklar med kvalitativ ansats som inhämtats genom systematiska sökningar i databaserna PubMed och CHINAL. Data analyserades i enlighet med Fribergs analys bestående av fem steg. Resultat: Analysen resulterade i tre huvudkategorier med sex tillhörande subkategorier. Huvudkategorierna var: Sjuksköterskan villkorar LARO-behandlingen, Vårdrelationen med sjuksköterskan och Utmaningar i tillgängligheten. Subkategorierna var: Begränsad delaktighet, Stigmatisering, Vikten av en god relation, Brister med informationen, Begränsad tillgänglighet och Avsaknaden av omvårdnadsutbud. Slutsats: Patienter med opioidberoende upplevde LARO-behandlingen som villkorad. Patienter upplevde bristande delaktighet gällande omvårdnaden. Upplevelse av stigmatisering kopplat till omvårdnaden framkom även. Patienter upplevde att de misstänkliggjordes efter flertalet år i behandling. Brister avseende tillgänglighet kopplat till LARO-behandlingen identifierades. Relationen till sjuksköterskan upplevdes vara en viktig del i behandlingen. Relationen skulle bidra till att bygga förtroende, reducera stigma och upplevas accepterande. Rådgivande samtal tillsammans med medicinering ansågs vara den viktigaste aspekten i behandlingen.Background: People with substance use disorder are to its extent more than 26 million people worldwide. LARO treatment (drug-assisted rehabilitation in opioid dependence) for people with substance use disorder in combination with other nursing care and psychosocial treatment is an effective treatment for people with substance use disorder. The goals of LARO treatment are for people with opioid dependence to have increased mental and physical health, have a socially functioning life and a reduced mortality. However, clinical experience shows that there are difficulties in retaining people in LARO treatment, which often leads to people dying instead. The nurse has a responsibility to provide nursing in a person-centered approach. Knowledge that a nurse possesses can help improve care outcomes in a LARO treatment. Aim: The purpose of the study was to highlight how adult patients with opioid dependence experience nursing care during LARO treatment. Method: A literature review was conducted where the results were based on nine scientific articles with qualitative approaches obtained through systematic searches in the databases PubMed and CINAHL. The data was analyzed in accordance with Friberg's analysis that consists of five steps. Results: The analysis led to three main categories with six associated subcategories. The main categories were following: The nurse conditions the treatment, The care relationship and Accessibility challenges. The associated categories were: Limited participation, Stigma, The imprtance of a good relationship, Deficiencies with the information, Limited availability and Lack of nursing services. Conclusion: Patients with opioid dependence experienced LARO treatment as conditional and experienced a lack of participation. Experiences of stigma linked to nursing emerged. Deficiencies regarding accessibility linked to the LARO treatment were identified. The relationship with the nurse was perceived to be an important part of the treatment. The relationship would help build trust, reduce stigma, and be perceived as accepting. Counseling along with medication was considered the most important aspect of treatment