Cardiovascular disease in adults with osteogenesis imperfecta: Clinical characteristics, care recommendations and research priorities identified using a modified Delphi technique.

Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI.

Sagittal Knee Gait Changes After Medial Unicompartmental and Total Knee Arthroplasty: An Exploratory Analysis of 32 Patients.

Background: This study aimed to investigate postoperative developments of sagittal knee gait in a population of knee arthroplasty patients randomized to either unicompartmental or total knee arthroplasty. We hypothesized that knee arthroplasty patients develop greater walking speeds, range of motion, sagittal knee angle velocities, and sagittal knee angle accelerations.

Methods: Thirty-two patients were recruited from a randomized trial comparing the two implant types.

Treatment with bariatric surgery in patients with osteogenesis imperfecta and severe obesity.

•Skeletal fragility and immobility in osteogenesis imperfecta may lead to obesity.•Bariatric surgery is an efficient treatment for severe obesity.•Bone turnover and BMD should be monitored closely during periods of rapid weight loss.

Incidence and survival of multiply revised knee arthroplasties in Denmark 1998-2021: a nationwide register-based study.

Purpose: The primary aim of our study was to identify the absolute incidence and implant survival of multiply revised knee arthroplasties based on nationwide register data. The secondary aim was to determine the change in the absolute incidence and implant survival of multiply revised knee arthroplasties Methods: We performed a retrospective observational study of primary knee arthroplasties using several nationwide Danish registers. All primary knee arthroplasties performed in Denmark from 1998 to 2021 were identified.

Risk factors associated with re-revision following revision total knee arthroplasty: a systematic review.

Aims: The aim of this study was to perform a systematic review and bias evaluation of the current literature to create an overview of risk factors for re-revision following revision total knee arthroplasty (rTKA).

Methods: A systematic search of MEDLINE and Embase was completed in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. The studies were required to include a population of index rTKAs.

LGR signaling mediates muscle-adipose tissue crosstalk and protects against diet-induced insulin resistance.

Obesity impairs tissue insulin sensitivity and signaling, promoting type-2 diabetes. Although improving insulin signaling is key to reversing diabetes, the multi-organ mechanisms regulating this process are poorly defined. Here, we screen the secretome and receptome in Drosophila to identify the hormonal crosstalk affecting diet-induced insulin resistance and obesity.

Thermophysical Properties of FUNaK (NaF-KF-UF) Eutectics.

General interest in the deployment of molten salt reactors (MSRs) is growing, while the available data on uranium-containing fuel salt candidates remains scarce. Thermophysical data are one of the key parameters for reactor design and understanding reactor operability. Hence, filling in the gap of the missing data is crucial to allow for the advancement of MSRs.

High temperature corrosion and oxide scale formation of nickel in molten NaOH at various basicity levels.

The corrosion behavior of alloy Ni 201 in molten sodium hydroxide (NaOH) at 600 °C was investigated at varying basicity levels of the molten NaOH. The ability for Ni 201 to form passivating oxides was investigated after immersion tests varying from 70 to 340 h under atmospheres of argon and argon with different partial pressure of water. Morphology and thicknesses of the corrosion products were characterized by Scanning Electron Microscopy (SEM) and crystallography of the corrosion products by X-ray Diffraction (XRD).

Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.

Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. Until recently, most research in OI has focused on the pediatric population and much less attention has been directed at the effects of OI in the adult population. This is a narrative review of the literature focusing on the skeletal as well as non-skeletal manifestations in adults with OI that may affect the aging individual.

Simultaneous Inside and Outside Functionalization of Single-Walled Carbon Nanotubes.

Functionalizing single-walled carbon nanotubes (SWCNTs) in a robust way that does not affect the sp carbon framework is a considerable research challenge. Here we describe how triiodide salts of positively charged macrocycles can be used not only to functionalize SWCNTs from the outside, but simultaneously from the inside. We employed disulfide exchange in aqueous solvent to maximize the solvophobic effect and therefore achieve a high degree of macrocycle immobilization.

Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy.

Developmental and epileptic encephalopathies (DEEs) are early-onset conditions that cause intractable seizures and developmental delays. Missense variants in Gamma-aminobutyric acid type A receptor (GABAAR) subunits commonly cause DEEs. Ahring et al.

Detection of the novel HLA allele, HLA-DRB1*08:112, identified in a Danish family.

HLA-DRB1*08:112 differs from HLA-DRB1*08:01 in exon 2 at amino acid 62; asparagine to lysine substitution.

Craniofacial morphology in adults with osteogenesis imperfecta-A cross-sectional study.

Objectives: The aim of this study was to compare the craniofacial and neurocranial morphology of adults with osteogenesis imperfecta (OI) with controls and to elucidate whether osseous origin impacts on morphological deviations in OI.

Materials And Methods: Fifty-four adults (mean age 45.8) with OI type I, 14 adults (mean age 42.

Hsp90 inhibition sensitizes DLBCL cells to cisplatin.

Purpose: Platinum-containing therapy is standard treatment for relapsed Diffuse Large B-Cell Lymphoma (DLBCL). However, the efficacy of treatment is limited by drug resistance leading to relapse. Cisplatin resistance has been linked to impairments of the DNA damage response, and several DNA repair proteins have been identified as clients of the molecular chaperone Hsp90.

Risk of eye diseases in osteogenesis imperfecta - A nationwide, register-based cohort study.

Background: Osteogenesis imperfecta (OI) is a hereditary disease caused by affected collagen type 1. Collagen type 1 is an important structural component of the eye. Ocular manifestations in OI are described in literature, but little is known about the risk of eye diseases in OI.

Detection of the novel HLA allele, HLA-DQA1*01:65, identified in a Danish donor.

HLA-DQA1*01:65 differs from HLA-DQA1*01:03 in exon 1 at amino acid -7 a valine to methionine substitution.

Osteoarthritis in osteogenesis imperfecta: A nationwide register-based cohort study.

Background: Osteogenesis Imperfecta (OI) is a genetic disease characterized by skeletal fragility. Collagen type 1 is found in many tissues and collagen abnormalities may result in organ specific symptomatology. Musculoskeletal pain is a known issue for patients with OI, osteoarthritis (OA) can be a likely cause.

Revision for periprosthetic joint infection rate stratified by seasonality of operation in a national population of total and unicompartmental knee arthroplasty patients: a register-based analysis.

: The aim of this study was to investigate whether the revision rate for periprosthetic joint infection (PJI) depends on the season of the primary procedure using a national population of knee arthroplasty (KA) patients. Seasonal variation of some surgical procedures has been observed to impact subsequent infection risks, with a higher risk of revision for surgeries performed during summer, but an analysis of PJI rates based on a national arthroplasty register has yet to be completed. We hypothesized that an increased risk of revision due to PJI could be demonstrated in a national population when primary surgery was performed during the summer.

Downregulating carnitine palmitoyl transferase 1 affects disease progression in the SOD1 G93A mouse model of ALS.

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by death of motor neurons. The etiology and pathogenesis remains elusive despite decades of intensive research. Herein, we report that dysregulated metabolism plays a central role in the SOD1 G93A mouse model mimicking ALS.