Epidemiology and management of proximal tibia frac-tures in children and adolescents : a population-based study based on the Kids? Fracture Tool

Background and purpose - Proximal tibial fractures are infrequent injuries in children, and the literature on epi-demiology, associated injuries, and management is limited. We calculated a population-based incidence and described the characteristics of proximal tibial fractures in children in terms of complications and management.Patients and methods - This is a retrospective study over a 6-year-period during including 241 children with proximal tibial fractures who presented to our university hospital. Demographic and fracture-related data was col-lected from the Kids' Fracture Tool. The number of children during the study period was collected from statistical year-books of the City of Helsinki to estimate annual incidence.Results - Extra-articular fractures (129/241) peaked at the age of 3 and tibial tubercle (42/241) and intra-articular fractures (70/241) peaked at the age of 15. Annual incidences were estimated to be 3.4/100,000 children and 22/100,000 children in the age group of 13-16 years for ACL avulsions, and 3.8/100,000 children and 21/100,000 children in the age group of 13-16 years for tibial tubercle fractures. The inci-dence of vascular compromise (0%) and compartment syn-drome was low (0.4 %, 1/241).Conclusion - Proximal tibial fractures present with a bimodal distribution, with extra-articular fractures peaking at the age of 3 years and fractures of the tibial tuberosity and intra-articular fractures peaking at the age of 15 years. Additionally, associated compartment syndrome and vascu-lar compromise was not as common as previously reported.Peer reviewe

Distaalisen reisiluun murtumiin liittyvän kasvulukon epidemiologia ja riskitekijät

Distaalisen reisiluun murtumat ovat erittäin harvinaisia lasten murtumia, joihin liittyy yleisenä komplikaationa kasvulevyyn kehittyvä kasvulukko. Eritoten tällä anatomisella alueella kasvulukosta voi seurata lapselle merkittävää elämänlaadullista haittaa, sillä reisiluun distaalinen kasvulevy käsittää noin 70% koko reisiluun pituuskasvusta. Vammojen harvinaisuuden ja pienten potilassarjojen vuoksi aiheeseen liittyvä kirjallisuus on vähäistä, tilastollisten johtopäätösten tekeminen on haastavaa, eikä yksimielisyyttä kasvulukkoon vaikuttavista riskitekijöistä ole. Tavoitteenamme on tarkastella distaalisen reisiluun kasvulukon kehittymiseen vaikuttavia riskitekijöitä ja luonnehtia näiden harvinaisten murtumien väestöpohjaista epidemiologiaa. Tutkimuksessa käytettiin Kids’ Fracture Tool -rekisteriä, johon on kerätty prospektiivisesti tiedot kaikista lasten murtumista Helsingin alueelta vuodesta 2014 lähtien. Aineistoksi rajautui 70 reisiluun distaalisen kasvulevyn murtuman saanutta alle 16-vuotiasta lasta vuosien 2014-2021 väliseltä ajalta. Murtumat luokiteltiin Peterson-luokituksen mukaisesti. Vähentääksemme tilastollista vääristymää, hyödynsimme DAG-kaaviota sekoittavien muuttujien tunnistamiseksi riskitekijäanalyysissa. Tuloksissa 1/4 (16/70) lapsista kehitti kasvulevyn murtuman jälkitilana kasvulukon, joista kaikki ilmaantuivat vanhemmille lapsille 11-16 vuoden ikäluokassa. Reisiluun distaalisen kasvulevyn murtuman väestöpohjaiseksi ilmaantuvuudeksi määritettiin 6/100 000, ja tätä seuraavan kasvulukon ilmaantuvuudeksi määritettiin 1.3/100 000. Riskitekijä-analyyseissä tilastollisesti merkittäviksi kasvulukkoa ennustaviksi muuttujiksi todettiin yli 10 mm:n dislokaatio ja murtuman korkea vammaenergia, kun taas murtuman hoitolinjaa ei tulkittu itsenäiseksi riskitekijäksi. Tuloksien ja aiemman kirjallisuuden pohjalta voidaan tulkita, että kasvulukon kehittymisriskin kannalta merkittävämmässä asemassa näyttää olevan murtuman vammaenergia ja sitä kuvaava dislokaation suuruus, kuin vamman hoitolinjaus

Epidemiology and risk factors for premature physeal closure in distal femur fractures

Background and purpose - Premature physeal closure (PPC) is a common and concerning complication to distal femoral fractures as the distal growth plate accounts for 70% of the growth of the femur. The literature is not unanimous in determining the risk factors of PPC, and the epidemiological characterization of these fractures is limited. Our aim was to calculate the population-based incidence and investigate risk factors for PPC in these fractures. Patients and methods - In this register-based study, between 2014 and 2021, 70 children with distal femoral physeal fractures presented to our hospital. Demographic data, and fracture-and treatment-related details were col-lected using the Kids' Fracture Tool. A directed acyclic graph (DAG) was constructed to determine confounding factors used in the risk analysis. Results - Physeal fractures of the distal femur occurred with an annual incidence of 6/105 children, and a result-ing PPC occurred in 16/70 (23%) with an annual incidence of 1.3/105 children. In multivariable analysis, dislocation exceeding 10 mm was a risk factor for PPC (OR 6.3, CI 1.4-22). Conclusion - One-fourth of distal femoral physeal fractures developed PPC. Greater dislocation and higher injury energy were significant risk factors, whereas choice of fracture treatment was not an independent risk factor. All patients with PPC belonged in the age group 11-16 years.Peer reviewe

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele