How students cope in the clinics - survey for clinical dental students

Tämän tutkimuksen tarkoitus oli selvittää hammaslääketieteen klinikkavaiheen eli kolmannen, neljännen ja viidennen vuoden opiskelijoiden hyvinvointikokemuksia HUS Suusairauksien opetus- ja hoitoyksikössä. Tutkimus käynnistyi tarpeesta tuottaa hyvinvointitietoa hammaslääketieteen klinikkavaiheen opiskelijoista. Hammaslääketieteen klinikkavaiheen opiskelijoiden hyvinvointia selvittävä kysely toteutettiin keväällä 2024 hammaslääketieteen kolmannen, neljännen ja viidennen vuosikurssin opiskelijoille. Tutkimus tehtiin anonyymisti. Lomake toteutettiin tietoturvallisella Helsingin yliopiston käyttämällä RedCap-kyselylomaketyökalulla. Tutkimuksesta on lääketieteellisen tiedekunnan tutkimuseettisen toimikunnan antama puoltava lausunto (päätös nro 7/2024). Tuloksen analysoitiin kolmen teeman avulla. Ensimmäisen teeman (klinikka-arjen kuormittavuus) osalta keskeisimpinä löydöksinä oli klinikkatyöskentelyn vaatiman ajan puute, omasta vapaa-ajasta kohtuuttomasti joustaminen sekä heikot vaikutusmahdollisuudet klinikka-arkeen. Toisen teeman (hyvinvointi ja jaksaminen) tärkeimmät löydökset olivat korostunut ahdistuneisuus, suoritteiden kuormittavuus, kiusaamiskokemusten esiin nouseminen ja toisaalta opiskelijoiden keskinäinen avoin keskustelukulttuuri. Kolmannessa teemassa (opiskelijaohjaus) nousi samaan aikaan voimakkaasti esiin opiskelijoiden mielipide siitä, ettei opetusklinikassa ole riittävästi opetushenkilökuntaa ja toisaalta toive reflektoiville ammattiin kasvattaville keskusteluille opettajien kanssa. Lisäksi erityishuomion tuloksista ansaitsevat löydökset, joiden mukaan lähes kolmannes opiskelijoista kokee tulleensa kiusatuksi opettajan toimesta, ja että opiskelijoilla on esiintynyt pelkoa kertoa todellista mielipidettään klinikassa pelätessään sen hankaloittavan heidän opintojaan, ja että osa opiskelijoista on jättänyt potilastyöhön liittyviä asioita vain omaan tietoonsa rangaistuksen pelon vuoksi. Opiskelijoiden yhteishenki on tulosten mukaan todella hyvä ja erityisesti on mainittava kunnioitettavan hieno tulos liittyen opiskelijoiden väliseen kiusaamisvastaisuuteen. Tutkimuksesta saatua hyvinvointitietoa voidaan hyödyntää tietopohjana sisäisten hyvinvointipoliittisten päätösten arvioinnissa ja opiskelijoiden hyvinvoinnin tukemisessa. Sitä voidaan käyttää vertailudatana vastaaviin sekä muiden yliopistojen sisäisiin että valtakunnallisiin hammaslääketieteen opiskelijoiden hyvinvointitutkimuksiin

Working group summary of the 2023 full update of the Finnish national guidelines for paediatric lower respiratory tract infections

Aim: The first evidence-based Finnish guidelines for paediatric lower respiratory tract infections (LRTIs) were published in 2014 and completely updated in 2023. This paper, by the interdisciplinary working group that developed the 2023 guidelines, summarises the main recommendations. Methods: The 2023 guidelines were produced after a systematic review. Strong evidence was at least two separate, high-quality studies, moderate evidence was at least one high-quality study and weak evidence was at least one satisfactory study. The authors have now summarised the key points. Results: There was strong evidence that antitussives and beta-sympathomimetics were not effective for bronchitis-related cough and that laryngitis should be treated with oral corticosteroids, with adrenaline inhalations added in severe cases. Also, that amoxicillin for 5 days provided sufficient treatment for paediatric community-acquired pneumonia and that children with apparent viral pneumonia could be observed without antimicrobial therapy. There was moderate evidence that corticosteroids or inhaled agents were not effective for bronchiolitis and that administering salbutamol with a holding chamber could relieve symptoms of wheezing bronchitis. Also, pertussis should be considered for unvaccinated infants with coughs. Conclusion: The 2023 guidelines aim to improve acute evidence-based treatment of LRTIs, through appropriate antibiotics, inhaled drugs, corticosteroids, radiology and laboratory testing.Peer reviewe

Maternal exercise during pregnancy is associated with reduced risk of asthma in the child : A prospective birth cohort study

Background: The means of primary prevention of asthma are limited. Maternal physical activity during pregnancy promotes fetal lung development and the newborn's lung function; thus, it could lower asthma risk and aid in asthma prevention. The objective of this study is to determine whether maternal physical activity during pregnancy is associated with asthma development in the child. Methods: The study population included 963 mother-infant pairs from the prospective Kuopio Birth Cohort study. Data on maternal physical activity during pregnancy, confounding factors, and children's asthma at 5 to 7 years of age were obtained from the Kuopio University Hospital birth registry and questionnaires. Findings: Maternal physical activity during pregnancy, when practiced three or more times per week, was associated with a reduced risk of asthma in the child, with an adjusted odds ratio of 0.54 (95% confidence interval 0.33–0.89; p = 0.02). The association was stable across a comprehensive set of adjustments, including length of gestation, mode of delivery, and maternal health indicators (e.g., asthma, smoking, pre-pregnancy body mass index and weight gain during pregnancy, infections, medication, healthy diet, stress), as well as various family environment variables. Conclusions: Maternal physical activity during pregnancy may be associated with marked protection of asthma in childhood and should be studied further as an applicable measure for asthma prevention. Funding: The study has been financially supported by grants from the Academy of Finland (no. 349427), the Emil Aaltonen Foundation, the Finnish Cultural Foundation, the Yrjö Jahnsson Foundation, the Juho Vainio Foundation (no. 202200461), the Kuopio Area Respiratory Foundation, and the Ida Montini Foundation.Peer reviewe

MYC modulerar aktiviteten hos mitokondriekomplex I samt uttrycket av dess underenheter i trippelnegativ bröstcancer

Triple-negative breast cancer (TNBC), responsible for 15-20% of all breast cancer cases, is an aggressive subtype characterized by poor clinical prognosis, limited treatment options, and a high tendency for invasion and relapse. The transcription factor MYC, a key regulator of many cellular programs such as proliferation and apoptosis, is frequently overexpressed in TNBC, promoting oncogenic cell growth and survival, and thus cancer progression. In rapidly dividing cells, oxidative phosphorylation (OXPHOS) is upregulated to meet the increased bioenergetic, biosynthetic and redox demands. Mitochondrial complex I (CI), the first and largest complex in the electron transport chain, is a proton-translocating multi-subunit protein complex that plays a central role in aerobic energy metabolism. Studies by us and others have suggested that cancers with high levels of MYC rely heavily on OXPHOS and CI, presenting a potential vulnerability for therapeutic intervention. This thesis aimed to elaborate on these suggestions by further investigating the molecular and physiological impacts of MYC on CI in TNBC cell lines. Seven TNBC cell lines were chosen based on transcriptomic MYC signature data; four with high MYC target gene expression and three with low MYC target gene expression . Mitochondria were isolated from three biological replicates of each cell line and subjected to a CI activity assay. RNA sequencing data from these cell lines were bioinformatically analyzed to identify differentially expressed CI genes in cell lines with high and low MYC target expression. Five differentially expressed subunits were identified for subsequent validation with Western blotting (WB). The results revealed that TNBC cell lines with high MYC target expression exhibit slightly higher CI activity and increased abundance of all five investigated CI subunits. These findings suggest that MYC-driven metabolic reprogramming enhances CI activity and subunit expression in TNBC cells, enabling them to meet the increased need of bioenergetics and anabolic metabolism. These data highlight the potential of targeting MYC and CI with a synergistic approach and provides a foundation for further studies on specific subunits, including how their inactivation might influence CI activity under varying levels of MYC expression.Trippelnegativ bröstcancer (TNBC) står för 15–20 % av alla bröstcancerfall och är en aggressiv undertyp som kännetecknas av dålig klinisk prognos, begränsade behandlingsalternativ och en hög tendens till metastasering och återfall. Transkriptionsfaktorn MYC är en nyckelregulator för många cellulära program, såsom proliferation och apoptos och är ofta överuttryckt i TNBC, vilket främjar onkogen celltillväxt och därmed cancerprogression. I snabbt delande celler är oxidativ fosforylering (OXPHOS) uppregulerat för att möta det stigande behovet av bioenergetik, biosyntes och redoxbalans. Mitokondriekomplex I (CI) är det första och största komplexet i elektrontransportkedjan och spelar en central roll som protontransporterande proteinkomplex i aerob energimetabolism. Tidigare forskning har föreslagit att tumörer med höga nivåer av MYC är starkt beroende av OXPHOS och CI, vilket presenterar en potentiell sårbarhet för terapeutisk intervention. Syftet med denna avhandling var att fördjupa sig i dessa antaganden genom att ytterligare undersöka de molekylära och fysiologiska effekterna av MYC på CI i TNBC-cellinjer. Sju TNBC-cellinjer valdes ut baserat på transkriptomisk MYC-signaturdata; fyra linjer med högt uttryck av MYC-målgener och tre med lågt uttryck av MYC-målgener. Mitokondrier isolerades i tre biologiska replikat av varje cellinje och utsattes för en CI-aktivitetsanalys. RNA-sekvenseringsdata från dessa cellinjer analyserades bioinformatiskt för att identifiera olikt uttryckta CI-gener i cellinjer med högt och lågt MYC-uttryck. Fem olikt uttryckta underenheter identifierades och ytterligare validerades med Western blotting (WB). Resultaten visade att TNBC-cellinjer med högt MYC-uttryck uppvisar något högre CI-aktivitet och en ökad expression av alla fem undersökta CI-underenheter. Dessa fynd tyder på att MYC-driven metabolistisk omprogrammering förhöjer aktiviteten av CI samt uttrycket av underenheter i TNBC-celler för att möta det ökade kravet på bioenergetik och anabol metabolism. Dessa resultat lyfter fram möjligheterna med att rikta in sig på MYC och CI med en synergistisk strategi och utgör även en grund för ytterligare studier på specifika underenheter, inklusive hur deras inaktivering kan påverka CI-aktivitet under varierande nivåer av MYC-uttryck

Risk factors for shoulder pain and stiffness in adults aged 44 and older : an 11-year longitudinal population-based study

Objective: We conducted a longitudinal observational study over 11 years to identify the risk factors for developing shoulder pain, stiffness, or both. Method: The study population (n = 1645) was identified from Health 2000 Survey, a nationally representative sample of Finns aged ≥ 44 years, without shoulder pain and stiffness at the start of the study based on a questionnaire. The independent variables included age, sex, body mass index (BMI), education level, diabetes, physical work exposures, and Beck’s depression score. We used multinomial logistic regression models to estimate relative risk ratios and 95% confidence intervals for three outcomes: shoulder pain, shoulder stiffness, and both combined. Results: We found that excess body mass and depressive symptoms were shared statistically significant risk factors for all three outcomes. However, we also observed distinct risk factor profiles: older age was associated with lower risk of shoulder pain but higher risk for shoulder stiffness with or without pain, while females had a lower risk of shoulder stiffness with or without pain. Participants with diabetes had higher risk of shoulder stiffness only. Physical workload factors predicted an increased risk of the combination of shoulder pain and stiffness. Conclusions: Our study identified increased BMI and depressive symptoms as consistent risk factors for shoulder pain, stiffness, or both. Older age increased the risk of shoulder stiffness but lowered the risk of pain alone, while females had a lower risk of stiffness. Diabetes was specifically linked to shoulder stiffness, and physical workload increased the risk of combined pain and stiffness.Peer reviewe

Ihmisten ja lintujen vuorovaikutussuhteet : esteettiset arvot, luonnonvaraisten lajien kauppa ja lintujen ruokinta

The Anthropocene has seen accelerating changes in the Earth’s environment. Human induced changes in the climatic and soil conditions, land cover changes, amount of harmful chemicals in the environment and overexploitation of species cause degradation of natural ecosystems and biodiversity. While biodiversity is declining, also the benefits of nature to human individuals and societies will degrade. Studies on human-nature interactions aim to create empirical understanding of the complex relationships in which humans interact with their environment and nonhuman species. The aim of nature conservation science is to create information to achieve global conservation targets as part of socio-ecological systems. Understanding social aspects of conservation has become a growingly important part of the science. Humans’ value driven actions towards nature can be both supporting and degrading to biodiversity. For instance, international wildlife trade has regulations aimed at sustainable practises. Yet, illegal activities, lack of monitoring or information still make trade a cause of population declines in species. At a more local scale, the provisioning of resources to animals can be supportive of species populations, leverage well-being impacts to humans, yet also have harmful cascading ecological impacts. In this thesis, I study human-nature interactions at different scales using questionnaire and citizen science data in combination with official data sources. I aim to create increased understanding on the interplay of aesthetic value of species and conservation issues as well as reasons for spatio-temporal changes in bird-feeding. Birds are chosen as the study system as they have both cultural and societal value and ecological significance, and there is great availability of data, making them an excellent study topic for human-nature interactions. More specifically, in Chapter I, I collected a novel empirical data set on all bird species’ aesthetic values to humans. The data was gathered with an online questionnaire, the ‘iratebirds’-application, where people scored the looks of bird species based on their visual aesthetic appeal. In Chapter II, the aesthetic value scores of bird species were associated with multiple aesthetic morphological traits and non-visual traits of species. Colours departing from the average brown-grey colours of birds, colour diversity, and especially blue and red, had the strongest association with higher aesthetic value. Also, other traits which are rare in birds such as long crests and tails were important for aesthetic value. There were some interesting associations between non-aesthetic traits and aesthetic value such as birds of prey being aesthetically valuable. On the other hand, threat status was not associated with aesthetic value of species. In Chapter III, I investigated in more detail how aesthetic value impacted a pressing conservation issue, the wildlife and captive trade markets of birds. Multiple trade data sources were combined to have a large-scale picture of bird species presence in trade. The presence or absence of species in trade was connected to aesthetic value. The results show that aesthetic value served as a positive predictor for bird species presence in trade. However, the association was stronger in international trade and for live bird trade, as well as stronger in passerines than other bird orders. These results highlight the role of context-dependency of product types and geographic scale of markets for values underpinning wildlife trade. In Chapter IV, I focused on human-bird interactions through a study on four-decade long trends in bird-feeding on a national scale in Finland with a questionnaire study and long-term citizen science bird monitoring data. The results showed that bird-feeding patterns were different in urban and rural areas: Bird-feeding had decreased more steeply in urban areas and provisioning of different food types had changed differently in urban and rural areas. The main reasons for negative changes were restrictions of local governments and housing companies, and observations of rats. The main reason for positive changes was people wanting to see more bird species in their feeding sites. Overall, the chapters of this thesis provide information on how human values impact bird species. Changes in human behaviour result in potential ecological impacts at global, national and cross-level scale. This thesis focused on the social aspects of human-nature interactions and future studies should close the loop by further studies on the ecological impacts of the values and actions revealed here. To achieve biodiversity conservation targets, information on the multiple dimensions and drivers impacting human-nature interactions at different scales are needed to guide policy and other forms of decision making in nature conservation.Maapallon elinympäristöissä on nähty antroposeenin ajalla kiihtyviä muutoksia. Ihmisten aikaansaamat muutokset ilmasto- ja maaperäolosuhteissa, maankäytön muutokset, ympäristössä olevien haitallisten kemikaalien määrä ja lajien suora ylikulutus aiheuttavat luonnon ekosysteemien tilan ja luonnonkirjon heikentymistä. Kun luonnonkirjo hupenee, myös luonnon ihmisyksilöille ja yhteiskunnille aikaansaamat hyödyt vähenevät. Ihmisten ja luonnon suhteiden tutkimus pyrkii luomaan tieteellistä ymmärrystä niistä monimutkaisista vuorovaikutussuhteista, joita on ihmisten, ympäristön ja muun lajisten eliöiden välillä. Luonnonsuojelun tieteenalan tavoitteena on tuottaa tietoa, jonka avulla voidaan saavuttaa maailmanlaajuiset luonnonsuojelun tavoitteet huomioiden sosio-ekologisten järjestelmien kokonaisuus. Ihmistieteellisten näkökulmien ymmärtämisestä on tullut ajan saatossa kasvava osa luonnonsuojelun tutkimusta. Ihmisten erilaiset arvopohjaiset teot luontoa kohtaan voivat sekä tukea että heikentää luonnonkirjoa. Esimerkiksi, kansainvälisen luonnonvaraisten eliöiden kaupan säännökset pyrkivät sääntelyyn kohti kestäviä toimintatapoja. Kuitenkin laittomat toimintamuodot, valvonnan ja tiedon puutteet aikaansaavat edelleen sen, että kauppa aiheuttaa populaatiokoon pienentymistä kohdelajeilla. Paikallisemmalla tasolla, lisäresurssien kuten ruuan tarjoaminen eläimille voi tukea niiden populaatioita, aikaansaada hyvinvointivaikutuksia ihmisille, ja toisaalta aiheuttaa kytkeytyneitä haitallisia ekologisia vaikutuksia. Tässä väitöskirjassa tutkin ihmisten ja luonnon vuorovaikutuksia eri tasoilla käyttäen kysely- ja kansalaistiedeaineistoja. Tarkoitus on lisätä tietoa esteettisten arvojen ja luonnonsuojelun kytköksistä sekä selvittää ajallisia ja paikallisia muutoksia lintujen ruokinnassa. Linnut ovat valikoituneet tutkimuksen kohteeksi, sillä niillä on sekä kulttuurista että ekologista merkitystä. Lisäksi linnuista on saatavilla erinomainen määrä tietoa tutkimustarkoituksiin. Tämän vuoksi ne ovat erinomainen kohde ihmisten ja luonnon suhteiden tutkimuksessa. Täsmällisemmin, kappaleessa I, keräsin uuden empiirisen tietokannan kaikkien lintujen esteettisestä arvosta ihmisten silmissä. Tietokanta kerättiin verkkopohjaisen kyselytutkimuksen, ’iratebirds’-sovelluksen, avulla. Sovelluksessa vastaajat arvioivat lintujen ulkonäköä perustuen niiden visuaaliseen viehättävyyteen. Kappaleessa II, lintujen esteettisten arvojen mittari yhdistettiin erilaisiin lajien esteettisesti tarkasteltavissa oleviin morfologisiin ja muihin ei-visuaalisiin lajien ominaisuuksiin. Korkeaa esteettistä arvoa ennustivat parhaiten värit, jotka eroavat lintujen keskimääräisestä ruskeanharmaasta värimaailmasta, värien monimuotoisuus. Erityisesti sinisellä ja punaisella värillä oli vahvin yhteys esteettiseen arvoon. Myös muut lintujen ominaisuudet kuten pitkä töyhtö tai pyrstö olivat tärkeitä esteettisen arvon ennustajia. Ei-visuaalisten ominaisuuksien ja esteettisen arvon väliltä löydettiin joitain mielenkiintoisia kytköksiä, kuten petolintujen esteettinen arvo. Toisaalta, uhanalaisuusluokalla ei ollut kytköksiä esteettisen arvon kanssa. Kappaleessa III, tutkin tarkemmin kuinka esteettinen arvo kytkeytyy polttavaan luonnonsuojelun kysymykseen, lintujen kauppaan. Liitin yhteen useita eri lintujen kauppaan liittyviä tietokantoja saadaksemme kattavan kuvan lintujen esiintymisestä kaupassa. Lintujen esiintyminen tai puuttuminen kaupattujen lintujen listalta yhdistettiin lajien esteettiseen arvoon. Tulokset näyttävät, että esteettinen arvo ennustaa positiivisesti lintulajin joutumista kaupan kohteeksi. Yhteys oli vahvin kansainvälisessä elävien lintujen kaupassa, ja lisäksi vahvempi varpuslinnuilla kuin muilla lintulahkoilla. Tämä korostaa sitä, että kauppaa ajavien arvojen tarkastelu tulee aina tehdä tapauskohtaisesti erilaiset kontekstit kuten tuotetyypit ja alueellisuus huomioiden. Kappaleessa IV, keskityin lintujen ja ihmisten suhteisiin tutkimalla Suomen kansallisella tasolla vuosikymmenten aikaisia muutoksia lintujen ruokinnassa kyselytutkimuksen ja lintujen pitkäaikaisseuranta-aineistojen avulla. Tulokset osoittivat, että lintujen ruokkimisen muutokset olivat erilaisia kaupunki- ja maaseutualueilla: Lintujen ruokkiminen on vähentynyt jyrkemmin kaupunkialueilla ja erilaisten ruokien tarjoaminen on muuttunut eri tavoin kaupungeissa ja maaseudulla. Eniten mainitut syyt negatiivisiin ruokinnan muutoksiin ovat alueelliset ja taloyhtiöiden rajoitukset ruokintaan, rottahavainnot sekä positiivisiin muutoksiin ihmisten halu nähdä enemmän lintulajeja ruokintapaikoillaan. Kokonaisuudessa, tämän väitöskirjan eri tutkimukset tarjoavat tietoa siitä, kuinka ihmisten arvot vaikuttavat lintulajeihin. Ihmisten käyttäytymisen muutokset aiheuttavat erilaisia ekologisia vaikutuksia maailmanlaajuisesti, kansallisesti sekä näiden maantieteellisten tasojen välillä. Tämä väitöskirja keskittyi ihmisten ja luonnon suhteiden ihmisnäkökulmiin ja tulevien tutkimusten tulisi sulkea tiedon ympyrä tuottamalla tietoa tässä väitöskirjassa selvinneiden ihmisten arvojen ja tekojen ekologisista vaikutuksista. Saavuttaaksemme luonnon monimuotoisuuden suojelun tavoitteet, tarvitaan tietoa eri tasoisista ajureista, jotka vaikuttavat ihmisten ja luonnon suhteisiin. Tämän tiedon avulla voidaan ohjata eri tasoilla tehtäviä kestäviä luonnonsuojelun politiikkatoimia ja muuta päätöksentekoa.ei saavutettav

Functionalized cellulose nanocrystals reinforced PLA-gelatin electrospun fibers for potential antibacterial wound dressing and coating applications

This study addresses the critical need for effective antibacterial materials by exploring the innovative integration of dimethyloctadecyl [3-(trimethoxysilyl)propyl] ammonium chloride (DTSACl) onto cellulose nanocrystal (CNC), followed by its incorporation into polylactic acid and gelatin matrices to engineer antibacterial nanofiber mats. The modification of CNC with DTSACl (QACNC) was studied and confirmed by FT-IR, 13C NMR, and XRD analysis. Furthermore, the impact of such addition on the morphology, mechanical, hydrophobic properties, and antibacterial efficacy of the resultant QACNC nanofibers were thoroughly investigated. It was found that the QACNC inhibited the growth of Staphylococcus aureus by 99 % but had no effect on Pseudomonas aeruginosa at 125 μg/mL concentration. Various concentrations of QACNC were blended into the as-spun PLA/Gel solutions before spinning or coated onto spun PLA/Gel nanofiber mats. There was a minor antibacterial effect observed with PLA/Gel mats blended with up to 3 wt% QCNC, while the average inhibition for PLA/Gel/QACNC 5 wt% was 68.3 % ± 36.5 %. By increasing the amount of QACNC blended into the polymer matrix, the human dermal fibroblast (HDF) cell viability decreased, indicating that optimizing QACNC concentrations is crucial for maintaining cell viability while ensuring effective antibacterial performance. Given the enhanced antibacterial properties, the fabricated textiles hold significant potential for applications in medical textiles and wound dressings.Peer reviewe

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia

Mulibrey nanism (MUL) is a monogenic growth disorder caused by mutations in TRIM37, with pre-and postnatal growth failure, typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors. Clinically, patients are gracile with relative macrocephaly, thin extremities, and narrow shoulders, but the full spectrum of skeletal features remains unknown. We conducted a cross-sectional study in order to further clarify the skeletal phenotype. We assessed radiographs of the long bones and spine in 33 MUL patients, aged 4.5–48 years (14 females and 19 males, median age 16.7 years) for skeletal features. Hospital records were reviewed for clinical characteristics and fractures. Results confirmed significant skeletal abnormalities related to MUL. Skeletal changes were present in all patients; long bones were slender and bowed with broad metaphyses and narrow diaphysis, the cortices were thick, and medullary cavities were narrow. The vertebral bodies were tall. Fibrous dysplasia was found in 19/33 patients (58%); changes were monostotic in 58% and polyostotic in 42%. Altogether 17/33 patients (52%) had a history of fractures. This study confirms that in addition to short stature, patients with MUL have a specific skeletal dysplasia. Our findings suggest an important role for TRIM37 in cellular functions governing skeletal modelling and remodelling.Peer reviewe

Atitudes linguísticas em Moçambique : Perceções de falantes sobre o português, as línguas bantas e o inglês

O presente estudo observa a utilização de diferentes línguas em Moçambique e as atitudes linguísticas dos falantes em relação a elas. A situação linguística do país ainda é pouco pesquisada e há um longo caminho a percorrer para obter uma imagem linguística completa. Este estudo tem como objetivo trazer para o quadro algumas perspetivas dos falantes. Os dados para este estudo são recolhidos através de um inquérito. O questionário inclui perguntas de escolha múltipla e de resposta aberta. Há oito participantes das quatro províncias que responderam a este inquérito: Maputo (5), Nampula (1), Inhambane (1) e Cabo Delgado (1). Eles têm entre 21 e 54 anos e homens e mulheres são igualmente representados. Todos os participantes concluíram, pelo menos, o ensino secundário. Todos os participantes sabem falar português e sete deles têm conhecimento de pelo menos uma língua banta. As respostas são analisadas através de uma análise de conteúdo para construir um conhecimento das perceções dos falantes sobre o português, as línguas bantas e o inglês. Moçambique tem falantes de dezenas línguas bantas e cada província tem as suas próprias caraterísticas linguísticas. Além disso, a língua portuguesa é a única língua oficial no país e habitualmente falada como língua segunda na sociedade. No entanto, o número de falantes de português como língua materna está em aumento. Os resultados mostram que os participantes têm atitudes positivas tanto em relação à língua portuguesa como às línguas bantas. As línguas bantas são vistas como línguas de herança, as quais transmitem o conhecimento das tradições culturais para gerações seguintes e existe um desejo comum de preservar estas línguas. No entanto, apesar deste desejo, os participantes escolhem frequentemente o português para conversar com familiares mais novos e com amigos. A língua portuguesa é vista como uma língua unificadora entre falantes de diferentes línguas. Os resultados também mostram que entre estes participantes há um interesse relativamente elevado sobre a língua inglesa. O conhecimento do inglês é visto como uma ferramenta para a ascensão económica e internacionalização de Moçambique. Isto é um resultado interessante porque historicamente estas atitudes dirigiram-se para a língua portuguesa

Perinatal asphyxia with no or mild hypoxic-ischaemic encephalopathy : Two-year neurodevelopmental outcome

Objective: To characterize 2-year neurodevelopment of infants with perinatal asphyxia without hypoxic-ischemic encephalopathy (HIE) or with mild HIE (HIE1) and analyse possible correlations with sex, brain MRI findings or early neurological examination. Methods: Term infants with perinatal asphyxia and a control group were prospectively recruited from the neonatal units of Helsinki University Hospital in 2016–2020. The study cohort included infants with no or minor neurological symptoms during first 6 h after birth. Neurodevelopment was assessed using Hammersmith Infant Neurological Examination (HINE) at three months and at two years, Griffiths Scales of Child Development, 3rd edition (GMDS-III) and Bayley Scales of Infant and Toddler Development, 3rd Edition (BSID-III) at two years. Results: Study included 89 infants: 32 study cohort infants and 57 healthy controls. In the study cohort 1/32 and in the control group 0/57 of the infants showed significantly below normative mean cognitive score in BSID-III. Respective frequency of significantly below normative mean receptive language score were 2/32 and 0/57 and expressive language score 4/32 and 8/57. Females with perinatal asphyxia performed better in the language scores of GMDS-III and BSID-III. Children with asphyxia-related findings in brain MRI had statistically significantly lower total score, language and communication and foundations of learning subscore of GMDS-III. Conclusions: Most infants with perinatal asphyxia without HIE or with HIE1 performed typically at two years. However, infants with asphyxia-related MRI findings showed lower cognitive and language scores. Our results suggest that female sex may be associated with a lower risk of any subtle effects.Peer reviewe