Head and Neck: Pleomorphic salivary gland adenoma with inv(8)(q12q12) (CHCHD7/PLAG1)

Review on Head and Neck: Pleomorphic salivary gland adenoma with inv(8)(q12q12) (CHCHD7/PLAG1), with data on clinics, and the genes involved

Head and Neck: Pleomorphic salivary gland adenoma with ins(8)(q12;q11q11) (TCEA1-PLAG1)

Review on Head and Neck: Pleomorphic salivary gland adenoma with ins(8)(q12;q11q11) (TCEA1-PLAG1), with data on clinics, and the genes involved

Food waste to new food: Risk assessment and microbial community analysis of anaerobic digestate as a nutrient source in hydroponic production of vegetables

In this study, the microbiological food safety of using anaerobic digestate as a fertilizer in hydroponic production of vegetables was evaluated. The used anaerobic digestate was a liquid residue obtained from the digestion of food waste in the production of biogas. Replacing the customary inorganic fertilizer used in hydroponic production with this recycled fertilizer (biofertilizer) could allow for sustainable urban food production close to retailers and consumers. However, in striving for circular food production, it is vital that the food safety of utilizing recycled resources is ensured. Especially in the application of hydroponic farming, where the nutrient loop is shorter than on arable land, a microbiological food safety risk assessment is crucial when adopting new and recycled fertilizers. The biofertilizer based on anaerobic digestate was therefore studied with regard to its microbial community (16S rRNA gene amplicon sequencing) during production of vegetables in a hydroponic system. The biofertilizer was also challenge tested with food borne pathogens (Salmonella enterica, Listeria monocytogenes and Bacillus cereus). Furthermore, the microbial activity of the biofertilizer was studied using isothermal calorimetry. The results showed that the microbial community of the biofertilizer changed distinctly through a necessary initial nitrification process, and that the most abundant genus was Mycobacterium. Deliberate contaminations with 5 log10 CFU mL−1 of either S. enterica or L. monocytogenes in the nitrified biofertilizer were no longer detectable with selective plating after 48 h of incubation at 20 °C. Selective plating for B. cereus revealed that the biofertilizer contained low levels (∼10 CFU mL−1) of the bacterium, and an inoculation of 5 log10 CFU mL−1 B. cereus decreased to these levels within 24 h of incubation at 20 °C. Analysis of the microbial activity of the biofertilizer indicated that the biofertilizer does not seem to support microbial activity without the addition of an external nutrient source that contains an accessible carbon source and trace elements. The type of biofertilizer investigated in this study is thus regarded as microbiologically safe for use in hydroponic cultivation. The constant presence of viable B. cereus, however, emphasizes the fundamental importance of continuous risk assessment in case of any modifications or supplementations of the biofertilizer, since it clearly can act as a reservoir for bacterial endospores

Profilering av blod-proteomet i autoimmuna sjukdomar genom proximity extension assay

Autoimmuna sjukdomar är en samling komplexa, kroniska, inflammatoriska sjukdomstillstånd som kännetecknas av dysreglering av immunsystemet, vilket resulterar i inflammation och skada av vävnader, celler och organ. Dessa sjukdomar har en betydande inverkan på individens livskvalitet och bidrar ofta till ökad dödsrisk där komorbiditeter föreligger. Emellertid medför den varierande symptombilden för olika autoimmuna sjukdomar betydande utmaningar för att uppnå noggrann diagnos, prognos och utvärdering av behandling. Det finns därför ett påtagligt behov av att upptäcka nya biomarkörer.  I denna studie utfördes en omfattande analys av 944 plasmaprover med hjälp av OlinkR Explore-plattformen, vilket genererade data för 1463 unika proteiner. Baserat på uttrycksdata identifierades proteiner förknippade med de sex utvalda autoimmuna sjukdomarna multipel skleros, myosit, reumatoid artrit, systemisk skleros, Sjögrens sjukdom och systemisk lupus erythematosus samt några av deras definierade subgrupper. Dessa potentiella biomarkörer kommer eventuellt att underlätta tidig diagnos, sjukdomsdifferentiering och prognos. Flertalet av dessa proteiner har ännu aldrig kopplats till de här specifika sjukdomarna i litteraturen, särskilt inte från plasmaprover, vilket ger spännande nya perspektiv för biomarkörsutveckling. Det är dock av största vikt att genomföra robusta valideringsstudier i oberoende kohorter.  Sammanfattningsvis belyser våra resultat den potentiella brukbarheten hos dessa proteomiska plasmabiomarkörer för att förbättra tidig sjukdomsdetektering, karakterisering av subgrupper och sjukdomsdifferentiering att stimulera. Förhoppningsvis kan dessa resultat stimulera till vidare forskning inom området för biomarkörer och potentiella framsteg inom individbaserad medicin. Autoimmune diseases are complex, chronic, inflammatory conditions characterized by dysregulation of the immune system, resulting in inflammation and damage to various tissues, cells and organs. These diseases significantly impact individuals’ quality of life and often contribute to increased mortality risk in the presence of comorbidities. However, due to the diverse array of symptoms associated with different autoimmune diseases, accurate diagnosis, prognosis, and treatment evaluation pose significant challenges. Thus, there is a pressing need for the discovery of novel biomarkers.  In this study, a comprehensive analysis of 944 plasma samples using the OlinkR Explore platform was conducted, generating data on 1463 unique proteins. Based on the expression data, associated proteins were identified for six selected autoimmune diseases, namely multiple sclerosis, myositis, rheumatoid arthritis, systemic sclerosis, Sjögren’s syndrome, and systemic lupus erythematosus, as well as some of their defined subgroups. These are prospective biomarkers and have the potential to aid in early diagnosis, therapeutic intervention, subgroup identification, disease differentiation, and disease prognosis. Notably, some of these proteins have not been previously associated with the specific diseases in the existing literature, especially not in plasma samples, thereby offering intriguing new perspectives for biomarker development. However, it is of great importance to conduct robust validation studies in independent cohorts to confirm the outcomes of this study.  In summary, our findings highlight the potential utility of these proteomic plasma biomarkers in improving the early detection, subgroup characterization, and disease differentiation of autoimmune diseases. The identification of these proteins will hopefully stimulate further investigation in the field of biomarker research and potential advancements in personalized medicine.

Profilering av blod-proteomet i autoimmuna sjukdomar genom proximity extension assay

Autoimmuna sjukdomar är en samling komplexa, kroniska, inflammatoriska sjukdomstillstånd som kännetecknas av dysreglering av immunsystemet, vilket resulterar i inflammation och skada av vävnader, celler och organ. Dessa sjukdomar har en betydande inverkan på individens livskvalitet och bidrar ofta till ökad dödsrisk där komorbiditeter föreligger. Emellertid medför den varierande symptombilden för olika autoimmuna sjukdomar betydande utmaningar för att uppnå noggrann diagnos, prognos och utvärdering av behandling. Det finns därför ett påtagligt behov av att upptäcka nya biomarkörer.  I denna studie utfördes en omfattande analys av 944 plasmaprover med hjälp av OlinkR Explore-plattformen, vilket genererade data för 1463 unika proteiner. Baserat på uttrycksdata identifierades proteiner förknippade med de sex utvalda autoimmuna sjukdomarna multipel skleros, myosit, reumatoid artrit, systemisk skleros, Sjögrens sjukdom och systemisk lupus erythematosus samt några av deras definierade subgrupper. Dessa potentiella biomarkörer kommer eventuellt att underlätta tidig diagnos, sjukdomsdifferentiering och prognos. Flertalet av dessa proteiner har ännu aldrig kopplats till de här specifika sjukdomarna i litteraturen, särskilt inte från plasmaprover, vilket ger spännande nya perspektiv för biomarkörsutveckling. Det är dock av största vikt att genomföra robusta valideringsstudier i oberoende kohorter.  Sammanfattningsvis belyser våra resultat den potentiella brukbarheten hos dessa proteomiska plasmabiomarkörer för att förbättra tidig sjukdomsdetektering, karakterisering av subgrupper och sjukdomsdifferentiering att stimulera. Förhoppningsvis kan dessa resultat stimulera till vidare forskning inom området för biomarkörer och potentiella framsteg inom individbaserad medicin. Autoimmune diseases are complex, chronic, inflammatory conditions characterized by dysregulation of the immune system, resulting in inflammation and damage to various tissues, cells and organs. These diseases significantly impact individuals’ quality of life and often contribute to increased mortality risk in the presence of comorbidities. However, due to the diverse array of symptoms associated with different autoimmune diseases, accurate diagnosis, prognosis, and treatment evaluation pose significant challenges. Thus, there is a pressing need for the discovery of novel biomarkers.  In this study, a comprehensive analysis of 944 plasma samples using the OlinkR Explore platform was conducted, generating data on 1463 unique proteins. Based on the expression data, associated proteins were identified for six selected autoimmune diseases, namely multiple sclerosis, myositis, rheumatoid arthritis, systemic sclerosis, Sjögren’s syndrome, and systemic lupus erythematosus, as well as some of their defined subgroups. These are prospective biomarkers and have the potential to aid in early diagnosis, therapeutic intervention, subgroup identification, disease differentiation, and disease prognosis. Notably, some of these proteins have not been previously associated with the specific diseases in the existing literature, especially not in plasma samples, thereby offering intriguing new perspectives for biomarker development. However, it is of great importance to conduct robust validation studies in independent cohorts to confirm the outcomes of this study.  In summary, our findings highlight the potential utility of these proteomic plasma biomarkers in improving the early detection, subgroup characterization, and disease differentiation of autoimmune diseases. The identification of these proteins will hopefully stimulate further investigation in the field of biomarker research and potential advancements in personalized medicine.

Cell cycle genes in chondrosarcoma. Involvement of the Id1 and p16 pathways

Chondrosarcoma is a malignant, cartilaginous tumour arising from bone. The wide variationin morphology, behaviour and clinical outcome raise the question whether chondrosarcomasare several different but closely related tumours rather than a single entity. On the cellularlevel, little is known about the molecular events responsible for the development andprogression of chondrosarcoma. The aim of this thesis was to investigate if the tumoursuppressor p16 and the helix-loop-helix (HLH) transcription factor Id1 and their regulatorypathways in the G1 phase of the cell cycle were affected in chondrosarcoma.Cultured cells and tissue from 34 human chondrosarcomas were investigated for geneticdefects by polymerase chain reaction (PCR) based methods and for changes in expressionpatterns of p16, p14ARF, p53, pRb, cdk4, Id1, Id3, E12 and MIDA1.While a structurally unchanged p53-gene was revealed in all samples analysed and only onehomozygous deletion of the p14ARF gene was found, the p16 gene showed homozygousdeletion, methylation and sequence deviations in preferable high-grade tumour tissue fromnine of 22 chondrosarcomas and in three of eight cultures of chondrosarcoma cells as well asin two chondrosarcoma cell lines. The protein expression of p16, pRb and cdk4 was analysedby Western blot in the cultured cells and several changes in the expression was detected incells from four of the eight tumours and in both cell lines. The expression and localisation ofId1 and Id3, as well as localisation of the E12-protein in cultured cells were studied byribonuclease protection assay, Western blot and immunohistochemistry. Id1 demonstrated astrong expression in chondrosarcoma cells also after serum withdrawal from the culturemedia, in contrast to normal chondrocytes where the expression was down-regulated.Moreover, antisense oligonucleotides directed against Id1 and Id3 decreased the mitoticactivity as measured by BrdU-labelling in both cell types. E12 had a nuclear localisation inchondrocytes and non-confluent tumour cells but in confluent tumour cells, E12 was found inthe cytoplasm. A previously unreported splicing form of MIDA1, a non-HLH protein bindingto Id1, was also found. The expression of MIDA1, Id1 and p16 studied by real-time PCRshowed that the expression levels of MIDA1 were rather constant between samples, while theexpressions of Id1 and p16 varied. The lowest levels of p16 expression were found inchondrosarcomas with worse prognosis, suggesting a possible role for p16 expression as aprognostic factor.The results from this thesis show that important genes in the G1 regulation of the cell cycleare changed in chondrosarcoma. Different defects in tumours with the same histological gradesupport the theory that chondrosarcomas may be several closely related tumours

Children’s participation in organized leisure activities strengthens, develops and creates community : A qualitative interview study.

Bakgrund, psykiskt välbefinnande har sjunkit bland barn i Sverige och många barn uppfyller inte rekommendationen för fysisk aktivitet. Betydelsen av fritidsaktiviteter är relativt väl beforskat utifrån barns perspektiv, föräldrarnas syn är dock mindre undersökt. Syftet med studien var att beskriva föräldrars uppfattning om betydelsen av barns delaktighet i organiserade fritidsaktiviteter. Metoden som användes hade en kvalitativ design, med semistrukturerade intervjuer. Det användes ett avsiktligt urval, där 11 deltagare deltog. Vid bearbetningen av datamaterialet användes en kvalitativ innehållsanalys. Resultatet gav en varierad uppfattning om betydelsen av delaktighet i fritidsaktiviteter för barnen. Det handlade om gemenskap, utvecklingen och lärdomar för barnen. Självförtroendet barnen fick under fritidsaktiviteterna, vikten av bekräftelse och det fysiska värdet hade också betydelse. Men även begränsningar som behövs framkom. Slutsats, variationen men även likheterna i resultatet har gett en fördjupad bild inom ämnet. Den gemensamma beskrivningen för de flesta var att fritidsaktiviteten gav glädje, utveckling, välbefinnande och ett sammanhang. Förhoppningen är att studien ska leda till en större utsträckning av användningen av fritidsaktiviteter som ett hälsofrämjande redskap för arbetsterapeuter.Background, mental health has declined among children in Sweden and many of them does not meet the recommendation for physical activity. The importance of leisure activities is relatively well researched from the perspective of children, however, the parent’s view is less studied. The purpose of the study was to describe parent’s perception of the importance of children’s participation in organized leisure activities. The method used was quantitative design with semi structured interviews. Purposive sampling was used, where 11 participants participated. The material was processed using qualitative content analysis. The result gave a varied perception of the importance of participation in leisure activities for children. It was about the importance of community, development and lessons from the leisure activities. The self-confidence children received during leisure activities, the importance of confirmation and the physical value also had significance. The need of limitations also emerged. Conclusion, the variation but also the similarities in the result have given an in-depth picture of the subject. The common description was that the leisure activity provided joy, development, well-being and a context. The hope is that the study will lead to a greater extent of the use of leisure activities as a health-promoting tool for occupational therapists

Children’s participation in organized leisure activities strengthens, develops and creates community : A qualitative interview study.

Bakgrund, psykiskt välbefinnande har sjunkit bland barn i Sverige och många barn uppfyller inte rekommendationen för fysisk aktivitet. Betydelsen av fritidsaktiviteter är relativt väl beforskat utifrån barns perspektiv, föräldrarnas syn är dock mindre undersökt. Syftet med studien var att beskriva föräldrars uppfattning om betydelsen av barns delaktighet i organiserade fritidsaktiviteter. Metoden som användes hade en kvalitativ design, med semistrukturerade intervjuer. Det användes ett avsiktligt urval, där 11 deltagare deltog. Vid bearbetningen av datamaterialet användes en kvalitativ innehållsanalys. Resultatet gav en varierad uppfattning om betydelsen av delaktighet i fritidsaktiviteter för barnen. Det handlade om gemenskap, utvecklingen och lärdomar för barnen. Självförtroendet barnen fick under fritidsaktiviteterna, vikten av bekräftelse och det fysiska värdet hade också betydelse. Men även begränsningar som behövs framkom. Slutsats, variationen men även likheterna i resultatet har gett en fördjupad bild inom ämnet. Den gemensamma beskrivningen för de flesta var att fritidsaktiviteten gav glädje, utveckling, välbefinnande och ett sammanhang. Förhoppningen är att studien ska leda till en större utsträckning av användningen av fritidsaktiviteter som ett hälsofrämjande redskap för arbetsterapeuter.Background, mental health has declined among children in Sweden and many of them does not meet the recommendation for physical activity. The importance of leisure activities is relatively well researched from the perspective of children, however, the parent’s view is less studied. The purpose of the study was to describe parent’s perception of the importance of children’s participation in organized leisure activities. The method used was quantitative design with semi structured interviews. Purposive sampling was used, where 11 participants participated. The material was processed using qualitative content analysis. The result gave a varied perception of the importance of participation in leisure activities for children. It was about the importance of community, development and lessons from the leisure activities. The self-confidence children received during leisure activities, the importance of confirmation and the physical value also had significance. The need of limitations also emerged. Conclusion, the variation but also the similarities in the result have given an in-depth picture of the subject. The common description was that the leisure activity provided joy, development, well-being and a context. The hope is that the study will lead to a greater extent of the use of leisure activities as a health-promoting tool for occupational therapists