Associations of Serum Irisin and Fibroblast Growth Factor-21 Levels With Bone Mineral Characteristics in Eumenorrheic Adolescent Athletes With Different Training Activity Patterns.

Purpose: To describe serum irisin and fibroblast growth factor-21 (FGF-21) concentrations in healthy female adolescents with different training activity patterns and their associations with bone mineral properties and metabolic markers.

Methods: A total of 62 adolescent girls aged 14-18 years were recruited: 22 rhythmic gymnasts, 20 swimmers, and 20 untrained controls. Bone mineral characteristics by dual-energy X-ray absorptiometry, daily energy intake by dietary recall, serum irisin, FGF-21, undercarboxylated osteocalcin, and C-terminal telopeptide of type I collagen were measured in all girls.

Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.

Pathogenic variants in SPARC cause a rare autosomal recessive form of osteogenesis imperfecta (OI), classified as OI type XVII, which was first reported in 2015. Only six patient cases with this specific form of OI have been reported to date. The SPARC protein plays a crucial role in the calcification of collagen in bone, synthesis of the extracellular matrix, and the regulation of cell shape.

Follistatin Is Associated with Bone Mineral Density in Lean Adolescent Girls with Increased Physical Activity.

Follistatin is a member of the activin-follistatin-inhibin hormonal system and is proposed to affect bone metabolism. However, data regarding the effect of follistatin on bone are relatively scarce and contradictory in humans. The purpose of the current study was to investigate possible associations of serum follistatin concentration with bone mineral characteristics in lean and physically active adolescent girls.

Proteomic Analysis of Dupuytren's Contracture-Derived Sweat Glands Revealed the Synthesis of Connective Tissue Growth Factor and Initiation of Epithelial-Mesenchymal Transition as Major Pathogenetic Events.

Dupuytren's contracture (DC) is a chronic and progressive fibroproliferative disorder restricted to the palmar fascia of the hands. Previously, we discovered the presence of high levels of connective tissue growth factor in sweat glands in the vicinity of DC nodules and hypothesized that sweat glands have an important role in the formation of DC lesions. Here, we shed light on the role of sweat glands in the DC pathogenesis by proteomic analysis and immunofluorescence microscopy.

Associations of Circulating Irisin and Fibroblast Growth Factor-21 Levels with Measures of Energy Homeostasis in Highly Trained Adolescent Rhythmic Gymnasts.

The aim of this investigation was to determine the associations of serum irisin and fibroblast growth factor-21 (FGF-21) with the measures of energy homeostasis, training stress and other energy homeostasis hormones in highly trained adolescent rhythmic gymnasts (RG). Thirty-three RG and 20 untrained controls (UC) aged 14−18 years participated in this study. Body composition, resting energy expenditure (REE), peak oxygen consumption, and different energy homeostasis hormones in serum, including irisin, FGF-21, leptin, and resistin, were measured.

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive Pathogenic Variant.

Osteogenesis imperfecta (OI) is a syndromic disorder of bone fragility with high variation in its clinical presentation. Equally variable is molecular aetiology; recessive forms are caused by approximately 20 different genes, many of which are directly implicated in collagen type I biosynthesis. Biallelic variants in prolyl 3-hydroxylase 1 (P3H1) are known to cause severe OI by affecting the competence of the prolyl 3-hydroxylation—cartilage associated protein—peptidyl-prolyl cis-trans isomerase B (P3H1-CRTAP-CyPB) complex, which acts on the Pro986 residue of collagen type I α 1 (COL1A1) and Pro707 collagen type I α 2 (COL1A2) chains.

Personal protection equipment for orthopaedic and trauma surgery during the COVID-19 pandemic: The results of an EFORT survey initiative.

Orthopaedic and trauma surgeons performing surgery in the COVID-19 pandemic environment faced problems with availability, use, rationing, modification, compliance and recycling of personal protection equipment (PPE). Orthopaedic and trauma surgeons were not well informed concerning the use of PPE for aerosol-generating orthopaedic and trauma procedures. Scientific bodies, health authorities and management have provided insufficient guidelines for the use of PPE in aerosol-generating orthopaedic and trauma procedures.

Serum sclerostin concentration is associated with specific adipose, muscle and bone tissue markers in lean adolescent females with increased physical activity.

Objectives: Sclerostin is an important regulator of bone mass involving the Wnt/β-catenin signalling pathway. Relatively few studies have investigated the relationships of circulating sclerostin levels with adiposity-related and muscle-related biochemical factors in individuals with increased energy metabolism. The aim of this study was to investigate the associations of circulating sclerostin with adipokines, myokines, osteokines and body composition values in lean adolescent females with increased physical activity.

Sclerostin, preadipocyte factor-1 and bone mineral values in eumenorrheic adolescent athletes with different training patterns.

Introduction: The specific aims of the study were to compare possible differences in sclerostin and preadipocyte factor-1 (Pref-1) between rhythmic gymnasts (RG), swimmers (SW) and untrained controls (UC), and to investigate the relationships of sclerostin and Pref-1 with bone mineral characteristics in studied groups.

Materials And Methods: This study included 62 eumenorrheic adolescents (RG = 22; SW = 20; UC = 20). Bone mineral and body composition characteristics were measured by dual-energy X-ray absorptiometry, and sclerostin, Pref-1, osteocalcin and C-terminal telopeptide of type I collagen (CTx) were measured.

Alternative splicing of leptin receptor overlapping transcript in osteosarcoma.

Osteosarcoma (OS, also known as osteogenic sarcoma) is the most common primary malignancy of bone in children and adolescents. The molecular mechanisms of OS are extremely complicated and its molecular mediators remain to be elucidated. We sequenced total RNA from 18 OS bone samples (paired normal-tumor biopsies).

Reproductive options for families at risk of Osteogenesis Imperfecta: a review.

Background: Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity.

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a "brittle bone disease." Around 90% of patients with OI harbor loss-of-function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen type I α1 and α2 chains. Collagen-related forms of the disorder are classified as Sillence OI types I-IV.

The Genetic Variations Associated With Time to Aseptic Loosening After Total Joint Arthroplasty.

Background: Total joint arthroplasty (TJA) is one of the most frequent surgical procedures performed in modern hospitals, and aseptic loosening is the most common indication for revision surgeries. We conducted a systemic exploration of potential genetic determinants for early aseptic loosening.

Methods: Data from 423 patients undergoing TJA were collected and analyzed.

Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.

Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations. In the current study, 94 Ukrainian OI families were interviewed.

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.

Background: Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes of OI might hide in pathogenic variants of 20 different genes. Often clinical OI types mimic each other.

De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta.

Background: Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen-related OI were investigated.

Methods: A comparative analysis was performed of the genotypes and phenotypes of 146 unrelated inherited and de novo collagen I OI cases from Estonia, Ukraine, and Vietnam.

Analysis of the Expression of Repetitive DNA Elements in Osteosarcoma.

Osteosarcoma (OS) is a rare malignant bone tumor. It affects mostly young persons and has poor outcome with the present treatment. No improvement was observed since the introduction of chemotherapy.

Whole transcriptome analysis identifies differentially regulated networks between osteosarcoma and normal bone samples.

We performed whole transcriptome analysis of osteosarcoma bone samples. Initially, we sequenced total RNA from 36 fresh-frozen samples (18 tumoral bone samples and 18 non-tumoral paired samples) matching in pairs for each osteosarcoma patient. We also performed independent gene expression analysis of formalin-fixed paraffin-embedded samples to verify the RNAseq results.

Use of a national database as a tool to identify primary medication non-adherence: The Estonian ePrescription system.

Background: Medication adherence can be divided into primary and secondary adherence. Primary medication non-adherence (PMN) occurs when a patient does not obtain medicine with their initial prescription. Secondary non-adherence measures prescription refills among patients who previously filled their first prescription.

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

Background: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients.

Adherence to osteoporosis medicines in Estonia-a comprehensive 15-year retrospective prescriptions database study.

Unlabelled: Some patients do not take medicines as they are supposed to. Our research showed that in Estonia, one fifth of patients did not start treatment with osteoporosis medicines and only 20% used the medicines for at least 3 years as they should. This induces unnecessary costs to the healthcare system.