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Xiao-Jie Xu, Fang Lv, Yi Liu, Jian-Yi Wang, Dou-Dou Ma, Asan, Jia-Wei Wang, Li-Jie Song, Yan Jiang, Ou Wang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by decreased bone mass and increased fracture risk. The majority of OI cases have an autosomal dominant pattern of inheritance and are usually caused by mutations in genes encoding type I collagen. OI cases of autosomal recessive inheritance are rare, and OI type XI is attributable to mutation of the FKBP10 gene. Here, we used next-generation sequencing and Sanger sequencing to detect mutations in FKBP10 and to analyze their relation to the phenotypes of OI type XI in three Chinese patients...
August 25, 2016: Journal of Human Genetics
Thomas McCaffrey, Michela Guglieri, Alexander P Murphy, Katherine Md Bushby, Anna Johnson, John P Bourke
Introduction The significance of abnormal cardiac measures in asymptomatic females who harbor dystrophin gene mutations is controversial. Methods Echo-measures of ventricular function were compared with published norms in a cross-sectional study of 130 (age 39 ± 15.7 years) 'carriers' of Duchenne or Becker muscular dystrophy (DBMD). Correlations between cardiomyopathy (CM) and mutation, CK levels, age, and muscle symptoms were investigated. Results Depending on definition, CM prevalence was 3-33%. Ejection fraction (Simpson) was < 55% in 9 (13%) and < 40% in 2 (2...
October 19, 2016: Muscle & Nerve
Mette H Hjorth, Maiken Stilling, Kjeld Søballe, Poul Torben Nielsen, Poul H Christensen, Søren Kold
Background and purpose - Short-term experimental studies have confirmed that there is superior fixation of cementless implants inserted with compaction compared to broaching of the cancellous bone. Patients and methods - 1-stage, bilateral primary THA was performed in 28 patients between May 2001 and September 2007. The patients were randomized to femoral bone preparation with broaching on 1 side and compaction on the other side. 8 patients declined to attend the postoperative follow-up, leaving 20 patients (13 male) with a mean age of 58 (36-70) years for evaluation...
October 19, 2016: Acta Orthopaedica
E Colt, M Akram, F X Pi Sunyer
BACKGROUND/OBJECTIVES: The objective of this study was to compare the measurement of areal bone mineral density (aBMD) by dual-energy X-ray absorptiometry (DXA) with the measurement of volumetric bone mineral density (vBMD) by high-resolution peripheral computerized tomography (HR-pQCT) in subjects with a wide range of body mass indices (BMI). SUBJECTS/METHODS: We scanned the arms and legs of 49 premenopausal women, aged 21-45 years, with BMI from 18.5 to 46.5, by HR-pQCT and found that there was a nonsignificant change in vBMD associated with increased BMI, whereas aBMD (DXA) was associated with a positive significant increase...
October 19, 2016: European Journal of Clinical Nutrition
Ben-Chung Cheng, Ying-Chou Chen
This study investigated the effect of different severities of CKD on femoral neck bone mineral density (BMD) in patients treated with denosumab. This study was a retrospective case review of CKD patients treated with denosumab. Baseline age, sex, and body mass index (BMI) were recorded for all patients. All comorbidities such as diabetes, hypertension, liver, and estimated glomerular filtration rate (eGFR) serum collagen type 1 cross-linked C-telopeptide (CTX) were also recorded. All subjects underwent dual energy X-ray absorptiometry assay of the femoral neck to determine the BMD...
October 18, 2016: Clinical Rheumatology
Ayse Tosun, Seda Erisen Karaca, Tolga Unuvar, Yakup Yurekli, Cigdem Yenisey, Imran Kurt Omurlu
PURPOSE: We aimed to evaluate the relationship between bone mineral density (BMD) disorders and possible risk factors in patients with epilepsy only (EO), cerebral palsy only (CPO), and cerebral palsy-epilepsy (CP + E). METHODS: A total of 122 patients [EO (n = 54), CPO (n = 30), CP + E (n = 38)] and 30 healthy children were evaluated. BMD was only measured in patient groups, not in control subjects. BMD of lumbar vertebrae was determined by dual energy X-ray absorptiometry (DXA)...
October 18, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Taewoong Oh, Sakura Tanaka, Tatsuki Naka, Shoji Igawa
PURPOSE: This study was performed to assess the effects of high-intensity intermittent swimming training(HIT) on bone in ovariectomized rats. METHODS: Six-week-old female Sprague-Dawley rats were randomly assigned to either sham operation or bilateral ovariectomy. After surgery, they were divided into the following four groups: 1) sham-operated sedentary (S), 2) sham-operated exercise training (SE), 3) OVX sedentary (O), 4) OVX exercise training (OE) 5) OVX given 17β-estradiol (OE2) and 6) OVX exercise training and given 17β-estradiol (OEE)...
September 2016: Journal of Exercise Nutrition & Biochemistry
Jung Eun Kim, Hwasil Moon, Haeng Mi Jin
PURPOSE: To systematically review the effects of exercise training and the type of exercise training on changes in bone mineral density (BMD) in Korean postmenopausal women. METHODS: Korean studies Information Service System (KISS) and PubMed were searched and 17 randomized control trials were selected. Changes in BMD of lumbar spine (LS), femur neck (FN), Ward's triangle (WT), and trochanter (Tro) were chosen as major outcomes. RESULTS: Exercise training increased BMD of LS, FN, WT, and Tro...
September 2016: Journal of Exercise Nutrition & Biochemistry
Jonathan Karnon, Ainul Shakirah Shafie, Nneka Orji, Sofoora Kawsar Usman
OBJECTIVE: Zoledronic acid and denosumab were funded by the Australian government for the management of osteoporosis at an equivalent price to alendronate. The price of alendronate has declined by around 65 %, but the price of the other two therapies has remained stable. Using data published since the listing, this paper reports current estimates of the value of denosumab compared to alendronate from an Australian health system perspective. METHODS: A cohort-based state transition model was developed that predicted changes in bone mineral density (BMD), and calibrated fracture probabilities as a function of BMD, age and previous fracture to estimate differences in costs and QALYs gained over a 10-year time horizon...
2016: Cost Effectiveness and Resource Allocation: C/E
Gerardo Huitrón-Bravo, Edgar Denova-Gutiérrez, Juan O Talavera, Carlos Moran-Villota, Juan Tamayo, Arianna Omaña-Covarrubias, Jorge Salmerón
BACKGROUND: Many factors, such as heredity, ethnicity, nutrition and other lifestyle factors, have been related to bone mineral density in postmenopausal women. Additionally, bone mass has been significantly associated with decreased estrogen levels. However, fewstudies have been conducted on premenopausal women. The present study was designed to estimate the relationship between low bone mineral density and levels of serum estradiol and lifestyle factors in premenopausal Mexican women...
October 19, 2016: BMC Musculoskeletal Disorders
G Díaz-Soto, E Romero, J L Pérez-Castrillón, O I Jauregui, D de Luis Román
Although normocalcemic and asymptomatic hyperparathyroidism (HPT) are becoming more common, they remain only partially understood. Parathyroid hormone (PTH) polymorphisms have been associated with disease severity in classical HPT. The aim of the present study was to evaluate the clinical effect of PTH polymorphism (rs6254) in normocalcemic and asymptomatic HPT. A prospective study of 61 consecutive patients with normocalcemic or asymptomatic HPT was carried out. Secondary causes of HPT were ruled out. All patients were followed for≥1 year...
October 18, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Karl Stoffel, Ivan Zderic, Florian Gras, Christoph Sommer, Ursula Eberli, David Mueller, Martin Oswald, Boyko Gueorguiev
OBJECTIVES: To evaluate the biomechanical performance of Femoral Neck System (FNS) in comparison to established methods for fixation of femoral neck fractures in a cadaveric model. METHODS: Twenty pairs of fresh-frozen human cadaveric femora were instrumented either with DHS-Screw, DHS-Blade, 3CS or with FNS in a partially paired design. The specimens were randomized to two paired treatment groups based on the BMD, namely DHS-Screw/DHS-Blade and FNS/3CS. A reduced unstable femoral neck fracture with postero-caudal comminution, AO/OTA 31-B2...
October 13, 2016: Journal of Orthopaedic Trauma
Jae Hoon Moon, Kyoung Min Kim, Tae Jung Oh, Sung Hee Choi, Soo Lim, Young Joo Park, Do Joon Park, Hak Chul Jang
DESIGN, SETTING, AND PARTICIPANTS: We conducted a retrospective cohort study including 273 postmenopausal women with DTC who had received TSH-suppressive therapy. Bone mineral density (BMD) and TBS at the lumbar spine were analyzed using dual-energy X-ray absorptiometry (DXA). Major Outcome Measure: The association between the parameters of TSH-suppressive therapy and bone parameters was investigated. RESULTS: Study subjects showed upper-normal free thyroxine (free T4) levels and suppressed TSH at DXA evaluation...
October 18, 2016: Journal of Clinical Endocrinology and Metabolism
Eric S Orwoll, Jodi Lapidus, Patty Y Wang, Liesbeth Vandenput, Andrew Hoffman, Howard Fink, Gail A Laughlin, Maria Nethander, Östen Ljunggren, Andreas Kindmark, Mattias Lorentzon, Magnus Karlsson, Dan Mellström, Anthony Kwok, Sundeep Khosla, Timothy Kwok, Claes Ohlsson
Measurement of serum testosterone (T) levels is recommended in the evaluation of osteoporosis in older men and estradiol (E2) and sex hormone binding globulin (SHBG) levels are associated with the rate of bone loss and fractures, but the clinical utility of sex steroid and SHBG measurements for the evaluation of osteoporosis in men has not been examined. To evaluate whether measurements of T, E2 and/or SHBG are useful for the prediction of fracture risk or the rate of bone loss in older men, we analyzed longitudinal data from 5487 community-based men participating in the MrOS Study in the US, Sweden and Hong Kong...
October 18, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Jingzi Zhong, Tiantian Xu, Gang Chen, Haixia Liao, Jiapeng Zhang, Dan Lan
Introduction Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene. Methods Multiplex ligation-dependent probe amplification (MLPA) combined with next-generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests. Results DNA rearrangements were detected in 65(70.65%) patients using MLPA. The deletions primarily clustered at exons 45-55, followed by exons 2-19...
October 17, 2016: Muscle & Nerve
Dong-Won Lee, Eun-Young Choi
BACKGROUND: A decrease in bone mineral density (BMD) is a systemic consequence of chronic obstructive pulmonary disease (COPD). Past reports have rarely examined any correlation between sarcopenia and BMD. We investigated the relationship cross-sectionally between the presence of sarcopenia and BMD reduction in COPD patients. METHODS: COPD patients aged 50 or older with qualifying spirometry and dual-energy X-ray absorptiometry data were from participants in the Korean National Health and Nutrition Examination Surveys IV and V (2008-2011)...
2016: PloS One
Laura F DeFina, David Leonard, Benjamin L Willis, Carolyn E Barlow, Carrie E Finley, Marjorie R Jenkins, Barbara C Pence, Yan Zhang, Ming-Chien Chyu, E Michael Lewiecki, Chwan-Li Shen
PURPOSE: The goal of this study was to determine the association between cardiorespiratory fitness (CRF) and bone mineral density (BMD) of the femoral neck (FN) in postmenopausal women using existing Cooper Center Longitudinal Study data. MATERIALS AND METHODS: A cohort of 1,720 predominantly healthy Caucasian women (57.1 ± 6.9 years) underwent preventive medical examinations that included CRF assessment by maximal Balke treadmill testing and measurement of BMD by dual-energy X-ray absorptiometry...
October 2016: Journal of Women's Health
Aurore Varela, Luc Chouinard, Elisabeth Lesage, Susan Y Smith, Gary Hattersley
Abaloparatide is a novel 34-amino acid peptide selected to be a potent and selective activator of the parathyroid hormone receptor (PTH1R) signaling pathway with 41% homology to PTH(1-34) and 76% homology to PTHrP(1-34). A 12-month treatment study was conducted in osteopenic ovariectomized (OVX) rats to characterize the mechanisms by which abaloparatide increases bone mass. Sprague-Dawley (SD) rats were subjected to OVX or sham surgery at age 6 months and left untreated for 3 months to allow OVX-induced bone loss...
October 17, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Oscar G Bodelón, Celia Clemente, Miguel Angel Alobera, Soledad Aguado-Henche, María Lorenza Escudero, María Cristina García Alonso
BACKGROUND: In this work, the effect of the heat treatment on Ti6Al4V implants and topical administration of growth hormone to address a better osseointegration in osteoporotic patients has been analysed. METHODS: The osseointegration process of Ti6Al4V implants modified by oxidation treatment at 700 °C for 1 h and the influence of local administration of growth hormone (GH) in osteoporotic female rabbits after 15 and 30 days of implantation have been studied. Bone response was analysed through densitometric and histomorphometric studies...
December 2016: Int J Implant Dent
H S Choi, J H Park, S H Kim, S Shin, M J Park
: Bone mineral density (BMD) of offspring was significantly associated with their parents' BMD. Parental BMD Z-score ≤-1 was a significant predictor for BMD Z-score ≤-1 in their offspring. Peak bone mass acquisition during early adulthood is more substantially influenced by genetic factors rather than lifestyle or environmental factors. INTRODUCTION: A person's BMD is affected by both genetic and environmental factors. Family history of osteoporosis or fragility fracture is a well-known risk factor for low bone mass or fracture...
October 17, 2016: Osteoporosis International
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