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1.
Pediatr Exerc Sci ; : 1-6, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38560997

RESUMEN

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. RESULTS: Whole body and lumbar spine areal bone mineral density and lumbar spine bone mineral content were higher in the rhythmic gymnasts group compared with swimmers and untrained controls groups (P < .05). Serum irisin, FGF-21, undercarboxylated osteocalcin, and C-terminal telopeptide of type I collagen levels were not significantly different between the groups. In the rhythmic gymnasts group, serum FGF-21 concentration was positively correlated with lumbar spine areal bone mineral density independently of confounding factors (r = .51; P = .027). CONCLUSIONS: Serum irisin and FGF-21 levels were not different between adolescent eumenorrheic girls with different training activity patterns. FGF-21 was positively associated with lumbar spine areal bone mineral density, which predominantly consists of trabecular bone in adolescent rhythmic gymnasts.

2.
Int J Mol Sci ; 24(2)2023 Jan 05.
Artículo en Inglés | MEDLINE | ID: mdl-36674597

RESUMEN

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. We demonstrated that a fraction of sweat gland epithelium underwent epithelial-mesenchymal transition illustrated by negative regulation of E-cadherin. We hypothesized that the increase in connective tissue growth factor expression in DC sweat glands has both autocrine and paracrine effects in sustaining the DC formation and inducing pathological changes in DC-associated sweat glands.


Asunto(s)
Contractura de Dupuytren , Humanos , Contractura de Dupuytren/metabolismo , Contractura de Dupuytren/patología , Factor de Crecimiento del Tejido Conjuntivo/metabolismo , Transición Epitelial-Mesenquimal , Proteómica , Fascia/metabolismo
3.
J Bone Miner Metab ; 39(2): 245-252, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32880010

RESUMEN

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. RESULTS: Sclerostin was higher (P = 0.001) in RG (129.35 ± 51.01 pg/ml; by 74%) and SW (118.05 ± 40.05 pg/ml; by 59%) in comparison with UC (74.32 ± 45.41 pg/ml), while no differences (P = 0.896) were seen in Pref-1 (RG: 1.42 ± 0.16 ng/ml; SW: 1.41 ± 0.20 ng/ml; UC: 1.39 ± 0.26 ng/ml) between groups. Osteocalcin (RG: 7.74 ± 4.09 ng/ml; SW: 8.05 ± 4.18 ng/ml; UC: 7.04 ± 3.92 ng/ml; P = 0.843) and CTx (RG: 0.73 ± 0.22 ng/ml; SW: 0.64 ± 0.16 ng/ml; UC: 0.62 ± 0.20 ng/ml; P = 0.173) were not different between groups. Sclerostin correlated (P < 0.05) with whole-body bone mineral content (r = 0.61) and lumbar spine (LS) areal bone mineral density (aBMD) (r = 0.43) in RG, and femoral neck aBMD (r = 0.45) in UC. No correlation was found between sclerostin and bone mineral values in SW, and Pref-1 was not correlated with any bone mineral characteristics in studied groups. Sclerostin was the independent variable that explained 14% of the total variance (R2 × 100) in LS aBMD value only in RG. CONCLUSIONS: Adolescent athletes have higher sclerostin compared to UC. Sclerostin was correlated with bone mineral values and predicted areal bone mineral density in RG.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/metabolismo , Atletas , Densidad Ósea , Proteínas de Unión al Calcio/metabolismo , Proteínas de la Membrana/metabolismo , Acondicionamiento Físico Humano , Absorciometría de Fotón , Proteínas Adaptadoras Transductoras de Señales/sangre , Adolescente , Composición Corporal , Calcificación Fisiológica , Proteínas de Unión al Calcio/sangre , Colágeno Tipo I/sangre , Femenino , Humanos , Proteínas de la Membrana/sangre , Osteocalcina/sangre , Péptidos/sangre , Análisis de Regresión
4.
Hum Genomics ; 13(1): 25, 2019 06 03.
Artículo en Inglés | MEDLINE | ID: mdl-31159867

RESUMEN

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. This sometimes makes it impossible to identify the OI type clinically, which can be a risk for patients. Up to 90% of OI types I-IV are caused by pathogenic variants in the COL1A1/2 genes. OI type V is caused by the c.-14C > T pathogenic variant in the 5'UTR of the IFITM5 gene and is characterized by hyperplastic callus formation and the ossification of interosseous membranes. RESULTS: In the current study, we performed IFITM5 5'UTR region mutational analysis using Sanger sequencing on 90 patients who were negative for COL1A1/2 pathogenic variants. We also investigated the phenotypes of five patients with genetically confirmed OI type V. The proportion of OI type V patients in our cohort of all OI patients was 1.48%. In one family, there was a history of OI in at least three generations. Phenotype severity differed from mild to extremely severe among patients, but all patients harbored the same typical pathogenic variant. One patient had no visible symptoms of OI type V and was suspected to have had OI type IV previously. We also identified a case of extremely severe hyperplastic callus in a 15-year-old male, who has hearing loss and brittleness of teeth. CONCLUSIONS: OI type V is underlined with some unique clinical features; however, not all patients develop them. The phenotype spectrum might be even broader than previously suspected, including typical OI features: teeth brittleness, bluish sclera, hearing loss, long bones deformities, and joint laxity. We suggest that all patients negative for COL1A1/2 pathogenic variants be tested for the presence of an IFITM5 pathogenic variant, even if they are not expressing typical OI type V symptoms. Further studies on the pathological nature and hyperplastic callus formation mechanisms of OI type V are necessary.


Asunto(s)
Colágeno Tipo I/genética , Proteínas de la Membrana/genética , Osteogénesis Imperfecta/genética , Regiones no Traducidas 5'/genética , Adolescente , Adulto , Niño , Preescolar , Cadena alfa 1 del Colágeno Tipo I , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Mutación/genética , Osteogénesis Imperfecta/epidemiología , Osteogénesis Imperfecta/patología , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Ucrania/epidemiología , Vietnam/epidemiología , Adulto Joven
5.
J Arthroplasty ; 35(4): 981-988, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31791832

RESUMEN

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. Three analytical groups were formed based on joint arthroplasty status. Group 1 were TJA patients without symptoms of aseptic loosening of at least 1 year, group 2 were patients with primary TJA, and group 3 were patients receiving revision surgery because of aseptic loosening. Genome-wide genotyping comparing genotype frequencies between patients with and without aseptic loosening (group 3 vs groups 1 and 2) was conducted. A case-control association analysis and linear modeling were applied to identify the impact of the identified genes on implant survival with time to the revision as an outcome measure. RESULTS: We identified 52 single-nucleotide polymorphisms (SNPs) with a genome-wide suggestive P value less than 10-5 to be associated with the implant loosening. The most remarkable odds ratios (OR) were found with the variations in the IFIT2/IFIT3 (OR, 21.6), CERK (OR, 12.6), and PAPPA (OR, 14.0) genes. Variations in the genotypes of 4 SNPs-rs115871127, rs16823835, rs13275667, and rs2514486-predicted variability in the time to aseptic loosening. The time to aseptic loosening varied from 8 to 16 years depending on the genotype, indicating a substantial effect of genetic variance. CONCLUSION: Development of the aseptic loosening is associated with several genetic variations and we identified at least 4 SNPs with a significant effect on the time for loosening. These data could help to develop a personalized approach for TJA and loosening management.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Artroplastia de Reemplazo de Rodilla , Artroplastia de Reemplazo de Cadera/efectos adversos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Variación Genética , Humanos , Falla de Prótesis , Reoperación
6.
Hum Genomics ; 11(1): 19, 2017 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-28810924

RESUMEN

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. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country. METHODS: We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5'UTR and 3'UTR regions, to identify causative OI mutations. RESULTS: We identified COL1A1/2 mutations in 86.67% of patients (26/30). 76.92% of discovered mutations were located in the COL1A1 (n = 20) and 23.08% in the COL1A2 (n = 6) gene. Half of the COL1A1/2 mutations appeared to be novel. The percentage of quantitative COL1A1/2 mutations was 69.23%. Glycine substitution with serine was the most prevalent among missense mutations. All qualitative mutations were situated in the chain domain of pro-α1/2 chains. CONCLUSION: Our study shows that among the Estonian OI population, the range of collagen I mutations is quite high, which agrees with other described OI cohorts of Northern Europe. The Estonian OI cohort differs due to the high number of quantitative variants and simple missense variants, which are mostly Gly to Ser substitutions and do not extend the chain domain of COL1A1/2 products.


Asunto(s)
Colágeno Tipo I/genética , Mutación , Osteogénesis Imperfecta/genética , Cadena alfa 1 del Colágeno Tipo I , Análisis Mutacional de ADN , Estonia/epidemiología , Humanos , Osteogénesis Imperfecta/epidemiología , Fenotipo
7.
Hum Genomics ; 10(1): 27, 2016 08 12.
Artículo en Inglés | MEDLINE | ID: mdl-27519266

RESUMEN

BACKGROUND: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI. METHODS: Genomic DNA was extracted from EDTA-preserved blood according to standard high-salt extraction methods. Sequence analysis and pathogenic variant identification was performed with Mutation Surveyor DNA variant analysis software. Prediction of the pathogenicity of mutations was conducted using Alamut Visual software. The presence of variants was checked against Dalgleish's osteogenesis imperfecta mutation database. RESULTS: The sample consisted of 91 unrelated osteogenesis imperfecta patients. We identified 54 patients with COL1A1/2 pathogenic variants; 33 with COL1A1 and 21 with COL1A2. Two patients had multiple pathogenic variants. Seventeen novel COL1A1 and 10 novel COL1A2 variants were identified. The majority of identified COL1A1/2 pathogenic variants occurred in a glycine substitution (36/56, 64.3 %), usually serine (23/36, 63.9 %). We found two pathogenic variants of the COL1A1 gene c.2461G > A (p.Gly821Ser) in four unrelated patients and one, c.2005G > A (p.Ala669Thr), in two unrelated patients. CONCLUSION: Our data showed a lower number of collagen OI pathogenic variants in Vietnamese patients compared to reported rates for Asian populations. The OI mutational profile of the Vietnamese population is unique and related to the presence of a high number of recessive mutations in non-collagenous OI genes. Further analysis of OI patients negative for collagen mutations, is required.


Asunto(s)
Colágeno Tipo I/genética , Osteogénesis Imperfecta/genética , Cadena alfa 1 del Colágeno Tipo I , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Mutación Missense , Vietnam
8.
Int Orthop ; 41(1): 21-29, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27807717

RESUMEN

PURPOSE: Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in Vietnam for future research and treatment strategy development. METHOD: Participants underwent clinical and physical examinations; also medical records were reviewed. Genealogical information was collected and family members' phenotypical manifestations recorded. Cases were classified according to the Sillence classification. RESULTS: In total, 146 OI patients from 120 families were studied: 46 with OI Type I, 46 with Type III and 54 with Type IV. Almost patients had skeletal deformations. One hundred and forty-two had a history of fractures, 117 blue sclera, 89 dentinogenesis imperfecta and 26 hearing loss. The total number of fractures was 1,932. Thirty-four patients had intra-uterine fractures and nine had perinatal fractures. Surgery was performed 163 times in 58 patients; 100 osteosyntheses and 63 osteotomies. Bisphosphonate treatment was used in 37 patients. The number of affected individuals and predominance of severe forms of OI indicate that the disease is under diagnosed in Vietnam, especially in cases without a family history or with mild form of OI. Deformities appeared in all patients with different severity and localisation, affecting mostly the lower limbs. OI medical and surgical treatment rates are low and in most cases surgery was performed due to fractures. CONCLUSIONS: Compared to previous studies, our results indicate a lower OI prevalence and greater severity of symptoms in the Vietnamese population when compared with other areas. Further investigation, improved diagnosis and treatment are needed to increase the patients' quality of life.


Asunto(s)
Osteogénesis Imperfecta/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Femenino , Fracturas Óseas/etiología , Humanos , Lactante , Masculino , Persona de Mediana Edad , Osteogénesis Imperfecta/complicaciones , Osteogénesis Imperfecta/epidemiología , Prevalencia , Calidad de Vida , Vietnam , Adulto Joven
9.
J Sports Sci Med ; 16(1): 99-104, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28344457

RESUMEN

This study examined bone mineral density (BMD) accrual in prepubertal rhythmic gymnasts entering puberty and their age-matched untrained control girls, and associations with baseline jumping performance and body composition over the 3-year period. Whole body (WB) and femoral neck (FN) BMD, WB fat mass (FM) and fat free mass (FFM), countermovement jump (CMJ) and rebound jumps for 15 s (RJ15s) were assessed in 25 rhythmic gymnasts and 25 untrained controls at baseline and after 3-year period. The changes over this period were calculated (Δ scores). Pubertal maturation over the 3-year period was slower in rhythmic gymnasts compared to untrained controls, while no difference in bone age development was seen. WB BMD increased similarly in both groups, while the increase in FN BMD was higher in rhythmic gymnasts compared with untrained controls. In rhythmic gymnasts, baseline FFM was the most significant predictor of ΔWB BMD explaining 19.2% of the variability, while baseline RJ15s was the most significant predictor of ΔFN BMD explaining 18.5% of the variability. In untrained controls, baseline FM explained 51.8 and 18.9% of the variability in ΔWB BMD and ΔFN BMD, respectively. In conclusion, mechanical loading of high-intensity athletic activity had beneficial effect on BMD accrual in rhythmic gymnasts and may have counterbalanced such negative factors on bone development as slower pubertal maturation and lower body FM. Baseline FFM and repeated jumps test performance were related to BMD accrual in rhythmic gymnasts, while baseline FM was related to BMD accrual in untrained controls.

10.
Hum Genomics ; 9: 6, 2015 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-25958000

RESUMEN

BACKGROUND: Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y sequence repeats of the triple helical region of the collagen type I α chain, which is encoded by the COL1A1 gene. The aim of the present study is to describe the phenotype of OI II patient and a novel mutation, causing current phenotype. RESULTS: We report an undescribed de novo COL1A1 mutation in a patient affected by severe OI. After performing the whole-exome sequencing in a case parent-child trio, we identified a novel heterozygous c.2317G > T missense mutation in the COL1A1 gene, which leads to p.Gly773Cys transversion in the triple helical domain of the collagen type I α chain. The presence of the missense mutation was confirmed with the Sanger sequencing. CONCLUSIONS: Hereby, we report a novel mutation in the COL1A1 gene causing severe, life threatening OI and indicate the role of de novo mutation in the pathogenesis of rare familial diseases. Our study underlines the importance of exome sequencing in disease gene discovery for families where conventional genetic testing does not give conclusive evidence.


Asunto(s)
Colágeno Tipo I/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Osteogénesis Imperfecta/genética , Adulto , Cadena alfa 1 del Colágeno Tipo I , Exoma/genética , Femenino , Humanos , Recién Nacido , Masculino , Mutación Missense , Osteogénesis Imperfecta/patología , Linaje
11.
Eur J Appl Physiol ; 116(4): 831-9, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26879077

RESUMEN

PURPOSE: To investigate changes in bone mineral density (BMD) in rhythmic gymnasts (RG) entering puberty and their age-matched untrained controls (UC) over the 36-month period, and associations with leptin, adiponectin and ghrelin over this period. METHODS: Whole body (WB), lumbar spine (LS) and femoral neck (FN) BMD, WB bone mineral content (BMC), and leptin, adiponectin and ghrelin were measured in 35 RG and 33 UC girls at baseline and at 12-month intervals over the next 3 years. The change over the 36 months was calculated (∆ score). RESULTS: The pubertal development over the next 36 months was slower in RG compard to UC, while there was no difference in bone age development between the groups. BMD at all sites was higher in RG in comparison with UC at every measurement point. ∆LS BMD and ∆FN BMD, but not ∆WB BMD and ∆WB BMC, were higher in RG compared with UC. None of the measured hormones at baseline or their ∆ scores correlated with ∆BMD and ∆BMC in RG. Baseline fat free mass correlated with ∆WB BMD and ∆WB BMC in RG, while baseline leptin was related to ∆WB BMC, ∆WB BMD and ∆LS BMD in UC. CONCLUSIONS: Measured baseline hormones and their ∆ scores did not correlate with increases in bone mineral values in RG entering puberty. Although the pubertal development in RG was slower than in UC, high-intensity training appeared to increase BMD growth and counterbalance negative effects of slow pubertal develpment, lower fat mass and leptin in RG.


Asunto(s)
Adiponectina/sangre , Densidad Ósea , Ghrelina/sangre , Gimnasia/fisiología , Pubertad/fisiología , Estudios de Casos y Controles , Niño , Femenino , Humanos , Leptina/sangre , Pubertad/sangre
12.
BMC Pediatr ; 16: 102, 2016 07 20.
Artículo en Inglés | MEDLINE | ID: mdl-27439435

RESUMEN

BACKGROUND: We investigated longitudinal relationships between the biochemical markers of bone and adipose tissue with bone mineral content (BMC), bone mineral density (BMD), moderate-to-vigorous physical activity (MVPA) and sedentary time (SED) in pubertal boys. METHODS: Ninety-six boys (11.9 ± 0.6 years old) were measured at baseline, after 12 and 24 months. Body composition (fat mass [FM], lean body mass [LBM]), and whole body (WB), lumbar spine (LS) and femoral neck (FN) BMD and BMC were assessed. Additionally, serum leptin, adiponectin, osteocalcin (OC) and C-terminal telopeptide of type I collagen (CTX) were measured. RESULTS: OC had a strong longitudinal inverse effect on changes in WB_BMD (p < 0.001) and LS_BMD (p = 0.021), while CTX had an inverse effect only on changes in FN_BMD (p = 0.011). Leptin had an inverse effect on changes in WB_BMC/WB_BMD (p = 0.001), FN_BMD (p = 0.002) and LS_BMD (p = 0.001). MVPA showed a longitudinal inverse effect on changes in leptin (p = 0.030), however no longitudinal effect of SED to biochemical markers of bone and adipose tissue was found. CONCLUSIONS: Bone metabolism markers have negative effect on bone mineral accrual during puberty. Increases in MVPA affect leptin, suggesting a positive link of MVPA through leptin metabolism on increases in bone mineralization during puberty.


Asunto(s)
Adiposidad/fisiología , Densidad Ósea/fisiología , Remodelación Ósea/fisiología , Ejercicio Físico/fisiología , Pubertad/fisiología , Conducta Sedentaria , Adiponectina/sangre , Adolescente , Biomarcadores/sangre , Niño , Colágeno Tipo I/sangre , Humanos , Leptina/sangre , Estudios Longitudinales , Masculino , Modelos Estadísticos , Osteocalcina/sangre , Péptidos/sangre , Pubertad/sangre
13.
Medicina (Kaunas) ; 52(5): 315-320, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27789081

RESUMEN

BACKGROUND AND OBJECTIVE: Osteoporosis is a major health threat nowadays. Aging of the population and changes in peoples' lifestyle result in a constant increase in the number of fractures all over the world. Our study aimed at describing the drug utilization pattern and choice of active substances of antiosteoporotic medicines in the Baltic countries. MATERIALS AND METHODS: Sales data of the antiosteoporotic medicines was obtained from the internet. These are available on the website of medicines regulatory agencies. The World Health Organization (WHO) methodology of Anatomical Therapeutic Chemical (ATC) classification and defined daily dose (DDD) was used to compare the data among countries. RESULTS: During the study period the consumption of antiosteoporotic medicines was rather stable in all the countries. The overall choice of active substances used to treat osteoporosis is similar in all the Baltic countries but the market shares of substances were different. Estonia stands out with high use of combination product of alendronic acid and colecalciferol. In Latvia the highest consumption was of risedronic acid. In Lithuania the most used active substance in 2014 was ibandronic acid and second was denosumab with 0.8 daily doses per 1000 inhabitants per day (DID) and 25% of the total share. CONCLUSIONS: The differences in consumption of drugs against osteoporosis in the Baltic countries are not very big. The consumption of antiosteoporotic drugs is not to be regarded as sufficient though. The generally low consumption of osteoporotic medicines in the Baltic countries can be attributed to the overall less than EU average wealth of the countries and less than optimal expenditure on healthcare out of the GDP.


Asunto(s)
Conservadores de la Densidad Ósea/uso terapéutico , Bloqueadores de los Canales de Calcio/uso terapéutico , Utilización de Medicamentos/estadística & datos numéricos , Osteoporosis/tratamiento farmacológico , Osteoporosis/epidemiología , Alendronato/administración & dosificación , Alendronato/uso terapéutico , Países Bálticos , Conservadores de la Densidad Ósea/administración & dosificación , Bloqueadores de los Canales de Calcio/administración & dosificación , Denosumab/administración & dosificación , Denosumab/uso terapéutico , Difosfonatos/administración & dosificación , Difosfonatos/uso terapéutico , Ergocalciferoles/administración & dosificación , Ergocalciferoles/uso terapéutico , Fracturas Óseas/prevención & control , Humanos , Ácido Ibandrónico , Ácido Risedrónico/administración & dosificación , Ácido Risedrónico/uso terapéutico
14.
Med Probl Perform Art ; 31(1): 25-8, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26966961

RESUMEN

This study compared bone mineral density (BMD) variables of female and male elite dancesport athletes with untrained control subjects of the same gender. Sixty-six elite dancesport athletes (M 33, F 33) and 64 untrained controls (M 34, F 31) participated in this study. Elite dancesport athletes were dancing couples competing at the international level. Whole-body bone mineral content and whole-body, forearm, lumbar-spine, and femoral-neck BMD, as well as whole-body fat mass and fat free mass, were measured by dual-energy X-ray absorptiometry. There were no differences (p>0.05) in height and body mass between dancers and controls of the same gender, but percent body fat was lower (p<0.05) in dancers of both genders than in untrained controls. Elite dancesport athletes had significantly higher femoral-neck BMD, and male dancers also higher whole-body BMD values when compared with controls of the same gender. All other measured bone mineral values did not differ between the groups of the same gender. In addition, training experience was positively correlated with whole-body BMD (r=0.27; p<0.05) in dancesport athletes. Based on this study, it can be concluded that elite dancesport athletes have higher BMD values at the weight-bearing site (femoral-neck BMD), while other measured areas and whole-body bone mineral values do not differ from the corresponding values of healthy sedentary controls of the same gender. According to our results, low BMD is not an issue for elite female dancesport athletes, despite their lower percent body fat values.


Asunto(s)
Densidad Ósea/fisiología , Baile/fisiología , Resistencia Física/fisiología , Soporte de Peso/fisiología , Absorciometría de Fotón , Adulto , Composición Corporal/fisiología , Estatura , Peso Corporal , Femenino , Humanos , Masculino , Adulto Joven
15.
Hum Genomics ; 8: 20, 2014 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-25496518

RESUMEN

BACKGROUND: Osteosarcoma (OS) is a prevalent primary malignant bone tumour with unknown etiology. These highly metastasizing tumours are among the most frequent causes of cancer-related deaths. Thus, there is an urgent need for different markers, and with our study, we were aiming towards finding novel biomarkers for OS. METHODS: For that, we analysed the whole exome of the tumorous and non-tumour bone tissue from the same patient with OS applying next-generation sequencing. For data analysis, we used several softwares and combined the exome data with RNA-seq data from our previous study. RESULTS: In the tumour exome, we found wide genomic rearrangements, which should qualify as chromotripsis-we detected almost 3,000 somatic single nucleotide variants (SNVs) and small indels and more than 2,000 copy number variants (CNVs) in different chromosomes. Furthermore, the somatic changes seem to be associated to bone tumours, whereas germline mutations to cancer in general. We confirmed the previous findings that the most significant pathway involved in OS pathogenesis is probably the WNT/ß-catenin signalling pathway. Also, the IGF1/IGF2 and IGF1R homodimer signalling and TP53 (including downstream tumour suppressor gene EI24) pathways may have a role. Additionally, the mucin family genes, especially MUC4 and cell cycle controlling gene CDC27 may be considered as potential biomarkers for OS. CONCLUSIONS: The genes, in which the mutations were detected, may be considered as targets for finding biomarkers for OS. As the study is based on a single case and only DNA and RNA analysis, further confirmative studies are required.


Asunto(s)
Exoma , Osteosarcoma/genética , Transcriptoma , Adolescente , Subunidad Apc3 del Ciclosoma-Complejo Promotor de la Anafase/genética , Proteínas Reguladoras de la Apoptosis/genética , Cromosomas Humanos Par 19/genética , Cromosomas Humanos Par 2/genética , Biología Computacional , Variaciones en el Número de Copia de ADN , Regulación Neoplásica de la Expresión Génica , Marcadores Genéticos , Mutación de Línea Germinal , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Factor I del Crecimiento Similar a la Insulina/genética , Factor II del Crecimiento Similar a la Insulina/genética , Masculino , Mucina 4/genética , Proteínas Nucleares/genética , Osteosarcoma/diagnóstico , Polimorfismo de Nucleótido Simple , Receptor IGF Tipo 1 , Receptores de Somatomedina/genética , Análisis de Secuencia de ARN , Transducción de Señal , Programas Informáticos , Proteína p53 Supresora de Tumor/genética , Población Blanca/genética , beta Catenina/genética
16.
J Bone Miner Metab ; 33(1): 85-92, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24549738

RESUMEN

One of the key determinants of adult skeletal health is the maximization of bone mass during the growth period. Physical activity (PA) in combination with lean mass and fat mass contribute to a great extent to bone mineral accrual; however, PA changes significantly during puberty. The aim of the present study was to examine PA exposure relative to bone mass acquisition during a longer observation period. Daily PA was measured with 7-day accelerometry and bone mineral parameters by DXA in 11- to 13-year-old peripubertal boys (n = 169). Similar testing was done after 1 calendar year. Changes in sedentary time were negatively related to changes in whole-body bone mineral density (BMD), lumbar spine bone mineral content (BMC), lumbar spine bone area (BA), femoral neck (FN) BMD, and FN BMC (r > -0.157; p < 0.05). Sedentary time emerged as the main PA level in predicting changes in FN BMC (p = 0.027) and in combination with vigorous PA predicting changes in FN BMD (p < 0.024). In addition to the effect of body composition on the skeleton, increase in sedentary time emerged as one main physical activity predictor (in addition to vigorous PA) of bone mineral acquisition during a 12-month period in peripubertal boys.


Asunto(s)
Huesos/patología , Conducta Sedentaria , Aceleración , Adolescente , Antropometría , Composición Corporal , Densidad Ósea , Niño , Cuello Femoral/patología , Humanos , Vértebras Lumbares/patología , Masculino , Actividad Motora , Estudios Prospectivos , Pubertad , Análisis de Regresión , Factores de Tiempo
17.
Medicina (Kaunas) ; 51(5): 307-11, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26674150

RESUMEN

BACKGROUND AND OBJECTIVE: In DanceSport, athletes train for many years to develop a very specific posture. Presently there are few data as to whether these adaptations are habitual or cause permanent anatomical changes to the spine. The aim of the current study was to evaluate lumbar lordosis and thoracic kyphosis of the international level DanceSport dancers using track and field athletes as controls. MATERIALS AND METHODS: Thirty competitive DanceSport couples (15 men aged 23.4±6.6 years; 15 women aged 22.5±6.4 years) and 29 track and field athletes (16 mean aged 27±4.4 years and 13 women aged 22±4.1 years) volunteered. Twelve couples were Standard, 7 Latin American and 11 were Ten Dance couples. Thoracic kyphosis and lumbar lordosis angle were assessed in lateral view using a Vertebral Fracture Assessment scan. RESULTS: DanceSport athletes had smaller S-shaped vertebral curvatures compared to track and field athletes. Male (5.7±4.7°) and female dancers (8.7±5.9°) had significantly smaller lumbar lordosis angle compared to their track and field counterparts (22.3±9.9° for men; 20.3±5.9° for women). Female dancers (25.3±8.0°) also demonstrated significantly smaller thoracic kyphosis angle than female track and field (32.1±8.9°) participants. It was further revealed that female Latin American dancers had significantly smaller lumbar lordosis values (3.7±3.1°) compared with female Standard (10.7±6.1°) and Ten Dance dancers (9.7±5.5°). CONCLUSIONS: The results of the present study suggest that smaller S-shaped vertebral curvatures of DanceSport athletes compared with track and field athletes are permanent changes rather than habitual.


Asunto(s)
Atletas , Baile/fisiología , Vértebras Lumbares/anatomía & histología , Postura , Vértebras Torácicas/anatomía & histología , Atletismo/fisiología , Adaptación Fisiológica , Adolescente , Adulto , Antropometría , Femenino , Humanos , Vértebras Lumbares/fisiología , Masculino , Vértebras Torácicas/fisiología , Adulto Joven
18.
Pediatr Int ; 56(5): 763-7, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24628782

RESUMEN

BACKGROUND: The aim of the present cross-sectional study was to investigate the relationship of physical activity level to bone mineral parameters in 11-13-year-old boys. METHODS: In total, 264 boys, divided into normal weight (n = 154) and overweight (n = 110), participated in this study. Physical activity was measured via 7 day accelerometry and bone mineral parameters using dual-energy X-ray absorptiometry. RESULTS: In overweight boys, vigorous physical activity was associated with total bone mineral density (BMD), total bone mineral content (BMC), while moderate-vigorous physical activity MVPA was associated with femoral neck BMD. In normal weight boys, however, only vigorous physical activity was associated with femoral neck BMD. When the normal weight group was divided into tertiles according to MVPA, femoral neck BMD was higher in the highest tertile compared to the lowest tertile. No other significant differences were found in bone mineral parameters according to the tertiles of MVPA. CONCLUSIONS: In overweight peripubertal boys, physical activity is more associated with bone mineral parameters compared to normal weight subjects. In addition to vigorous physical activity, moderate physical activity has a significant impact on bone mineral parameters in overweight subjects.


Asunto(s)
Densidad Ósea , Actividad Motora/fisiología , Adolescente , Huesos , Niño , Estudios Transversales , Humanos , Masculino , Sobrepeso/fisiopatología , Pubertad
19.
Pediatr Exerc Sci ; 26(4): 477-84, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25372383

RESUMEN

The aim of this study was to describe longitudinal changes in body composition, leptin, adiponectin, and ghrelin over a 36-month period in prepubertal rhythmic gymnasts (RG) and their age-matched untrained controls (UC) entering into puberty. Thirty-five RG (8.0 ± 0.6 yrs) and 33 UC (8.2 ± 0.6 yrs) were followed at 12-month intervals for the next 3 years. Height, weight, pubertal stage, body composition, leptin, adiponectin, and ghrelin were measured at each time points. The pubertal development over the next 36 months was slower in the RG compared with UC. Leptin was increased in UC and remained unchanged in RG over 3-year study period (3.7 ± 3.6 vs. 0.2 ± 1.1 ng/ml; p < .05). In RG, baseline leptin was negatively correlated with the change in body fat percentage over a 36-month period (r = -0.34; p < .05). The change in adiponectin over the study period was negatively correlated with the change in BMI (r = -0.43; p < .05). RG had relative leptin deficiency per body fat mass. In conclusion, relatively high leptin concentration at the beginning of puberty may predict those girls who do not increase their body fat percentage through coming years and therefore may have increased risk for delayed puberty.


Asunto(s)
Adiponectina/sangre , Composición Corporal/fisiología , Ghrelina/sangre , Gimnasia/fisiología , Leptina/sangre , Estudios de Casos y Controles , Niño , Femenino , Estudios de Seguimiento , Humanos , Pubertad/fisiología
20.
Rheumatol Int ; 33(7): 1681-7, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23269569

RESUMEN

This study was aimed to investigate the influence of being overweight on bone mineral status in 11-13-year-old boys, who were divided into overweight (OW; n = 110) and normal weight (NW; n = 154) groups. Bone mineral density (BMD) at the whole body (WB), lumbar spine (LS) and femoral neck (FN), bone mineral content (BMC) at the WB, and body composition were assessed. Calculation of the bone mineral apparent density (BMAD) was completed for the WB, LS and FN. The BMC/height ratio was also computed. OW boys displayed similar values (P > 0.05) for LS and FN BMAD and lower (P < 0.05) WB BMAD, despite significantly higher values (P < 0.05) for more widely used WB and LS BMD, WB BMC and WB BMC/height in comparison with NW boys. Fat-free mass index (FFMI; kg/m(2)) had the highest correlation coefficients from the calculated body composition indices with all bone mineral values in NW boys. In OW boys, the FFMI had the highest correlation only with FN BMD, while other measured bone mineral values had highest correlations with either BMI or FMI indices. In conclusion, OW boys have higher crude WB BMD, BMC and BMC/height ratio in comparison with NW boys. However, the bone growth appears to be insufficient to compensate for the higher mechanical load applied on the bone by higher FM and also FFM values in OW boys. Excessive adiposity does not have a protective effect on the development of BMAD in growing boys reaching puberty.


Asunto(s)
Composición Corporal , Peso Corporal , Densidad Ósea , Obesidad Infantil/fisiopatología , Absorciometría de Fotón , Adiposidad , Adolescente , Factores de Edad , Análisis de Varianza , Fenómenos Biomecánicos , Estudios de Casos y Controles , Niño , Estudios Transversales , Estonia , Cuello Femoral/diagnóstico por imagen , Humanos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Obesidad Infantil/diagnóstico , Factores Sexuales
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