keyword
https://read.qxmd.com/read/38644274/-efficiency-of-cnv-seq-in-detecting-fetal-dmd-gene-deletion-or-duplication-in-prenatal-diagnosis
#21
JOURNAL ARTICLE
X Qiu, J J Guo, C C Jin, J He, L Wang, B C Yang, Y H Zhang, B S Zhu, X H Tang
Objective: To evaluate the diagnostic efficiency of copy number variation sequencing (CNV-seq) to detect the deletion or duplication of DMD gene in prenatal diagnosis. Methods: A retrospective analysis was carried out on the CNV-seq results of 34 544 fetuses diagnosed in the First People's Hospital of Yunnan Province from January 2018 to July 2023. A total of 156 cases of fetuses were collected, including Group 1:125 cases with family history of Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD), and Group 2:31 cases with no family history but a DMD gene deletion or duplication was detected unexpectedly by CNV-seq...
April 25, 2024: Zhonghua Fu Chan Ke za Zhi
https://read.qxmd.com/read/38643905/6-o-angeloylplenolin-inhibits-osteoclastogenesis-in-vitro-via-suppressing-c-src-nf-%C3%AE%C2%BAb-nfatc1-pathways-and-ameliorates-bone-resorption-in-collagen-induced-arthritis-mouse-model
#22
JOURNAL ARTICLE
Zhi-Chao Li, Min Li, Ling-Xiang Xiao, Xi Zheng, Rong Li, Shi-Jia Dong, Yue Wang, Hong-Yu Wen, Kun-Lin Ruan, Ke-Guang Cheng, Ming Chen, Yan-Hui Tan
One of the effective therapeutic strategies to treat rheumatoid arthritis (RA)-related bone resorption is to target excessive activation of osteoclasts. We discovered that 6-O-angeloylplenolin (6-OAP), a pseudoguaianolide from Euphorbia thymifolia Linn widely used for the treatment of RA in traditional Chinese medicine, could inhibit RANKL-induced osteoclastogenesis and bone resorption in both RAW264.7 cells and BMMs from 1 μM and protect a collagen-induced arthritis (CIA) mouse model from bone destruction in vivo...
April 19, 2024: Biochemical Pharmacology
https://read.qxmd.com/read/38643895/trabecular-bone-score-tbs-in-cushing-s-disease-tbs-gain-after-hypercortisolism-normalization
#23
JOURNAL ARTICLE
Elina Tan, Laurence Guignat, Azeddine Dellal, Renaud Winzenrieth, Catherine Cormier, Eugénie Koumakis
CONTEXT: Hypercortisolism frequently induces trabecular bone loss, more pronounced at the lumbar spine, resulting in osteoporosis, and thus an increase in fracture risk. Several studies have shown bone mass recovery in patients with Cushing's disease (CD) after treatment. OBJECTIVE: To examine treatment effects on TBS (trabecular bone score) in addition to aBMD (areal bone mineral density) in a cohort of patients with CD. DESIGN AND SETTING: Single-center retrospective longitudinal study in patients diagnosed with CD and successfully treated following surgery and/or medical treatment...
April 19, 2024: Bone
https://read.qxmd.com/read/38643731/assessing-change-in-spine-bone-density-from-different-numbers-and-combinations-of-lumbar-vertebrae-the-manitoba-bmd-registry
#24
JOURNAL ARTICLE
Auryan Szalat, Harold Rosen, William D Leslie
INTRODUCTION: Change in bone mineral density (BMD) is considered significant when it exceeds the 95 % least significant change (LSC) derived from that facility's precision study. The lumbar spine is often affected by structural artifact such that not all four lumbar vertebrae are evaluable. Guidelines suggest using a site-matched LSC when omitting vertebrae from the BMD measurement. The current study describes significant BMD change related to intervening anti-osteoporosis treatment for different numbers and combinations of lumbar vertebrae using site-matched LSC values...
April 10, 2024: Journal of Clinical Densitometry
https://read.qxmd.com/read/38643667/sarcopenic-obesity-defined-by-the-espen-and-easo-consensus-statement-in-older-women-risk-of-falls-and-bone-mineral-density-implications
#25
JOURNAL ARTICLE
Thaís Muniz Montalvão-Sousa, Priscila de Ataides Ferreira, Natália Leite Colombelli, Kênia Mara Baiocchi de Carvalho, Anthony J Blazevich, Ricardo M Lima
PURPOSE: To apply the ESPEN-EASO diagnostic criteria for Sarcopenic Obesity (SO) in older women and to assess its association with the risk of falls, fear of falls (FOF), and bone mineral density (BMD). METHODS: After exclusion criteria, 232 women aged ≥60 years (68.2 ± 6.1) were enrolled in the study. Volunteers had handgrip strength (HGS; dynamometer) and body composition assessed by DXA before risk of falls was evaluated using the QuickScreen and FOF evaluated by the Falls Efficiency Scale...
April 12, 2024: Archives of Gerontology and Geriatrics
https://read.qxmd.com/read/38643425/a-novel-mri-based-cervical-endplate-bone-quality-score-independently-predicts-cage-subsidence-after-anterior-cervical-discectomy-and-fusion
#26
JOURNAL ARTICLE
Junhu Li, Linnan Wang, Qiujiang Li, Zhipeng Deng, Lei Wang, Yueming Song
INTRODUCTION: Postoperative cage subsidence after Anterior Cervical Discectomy and Fusion (ACDF) often has adverse clinical consequences and is closely related to Bone Mineral Density (BMD). Previous studies have shown that cage subsidence can be better predicted by measuring site-specific bone density. MRI-based Endplate Bone Quality (EBQ) scoring effectively predicts cage subsidence after lumbar interbody fusion. However, there is still a lack of studies on the practical application of EBQ scoring in the cervical spine...
April 21, 2024: European Spine Journal
https://read.qxmd.com/read/38643322/sarcopenic-obesity-and-reduced-bmd-in-young-men-living-with-hiv-body-composition-and-sex-steroids-interplay
#27
JOURNAL ARTICLE
S De Vincentis, C Greco, F Fanelli, M C Decaroli, C Diazzi, M Mezzullo, J Milic, M C De Santis, L Roli, U Pagotto, G Guaraldi, V Rochira
PURPOSE: Sex steroids play a key role on male bone homeostasis and body composition (BC), their role in men living with HIV (MLWH) is less recognized. This study aimed at investigating the prevalence of low BMD, sarcopenia, and sarcopenic obesity (SO) and their relationship with sex steroids in MLWH aged < 50. METHODS: Prospective, cross-sectional, observational study on MLWH younger than 50 (median age 47.0 years). BC and BMD were evaluated with DXA...
April 20, 2024: Journal of Endocrinological Investigation
https://read.qxmd.com/read/38642819/secondary-hyperparathyroidism-predictors-and-relationship-with-vitamin-d-status-bone-turnover-markers-and-bone-mineral-density
#28
JOURNAL ARTICLE
Donal Fitzpatrick, Eamon Laird, Mary Ward, Leane Hoey, Catherine F Hughes, J J Strain, Conal Cunningham, Martin Healy, Anne M Molloy, Helene McNulty, Rosaleen Lannon, Kevin McCarroll
INTRODUCTION: Secondary hyperparathyroidism (SHPT) has adverse implications for bone health but is relatively understudied. In this study we examine the prevalence and determinants of SHPT and describe the relationship of SHPT with bone turnover markers and bone mineral density (BMD) in older Irish adults. METHOD: Eligible participants (n = 4139) were identified from the Trinity-Ulster-Department of Agriculture (TUDA) study, a cohort of Irish adults aged ≥60 years...
April 18, 2024: Bone
https://read.qxmd.com/read/38642739/approach-to-the-elderly-patient-with-vertebral-fracture-due-to-bone-fragility
#29
JOURNAL ARTICLE
Ana Isabel Hormigo-Sánchez, Marta Neira-Álvarez, Teresa Pareja-Sierra
Osteoporosis is a metabolic and systemic disease characterized by alterations at the level of bone tissue with loss of bone mineral density, changes in microarchitecture, mineralization and remodeling that determine greater bone fragility and risk of fracture. Falls in the elderly are a risk factor closely related to fragility fractures and numerous studies demonstrate this relationship. Vertebral fractures are a major cause of morbidity and mortality. The epidemiology differs from osteoporotic fractures at other skeletal sites, as only one-third are clinically recognized...
April 18, 2024: Revista Española de Cirugía Ortopédica y Traumatología
https://read.qxmd.com/read/38642089/metabolic-and-skeletal-characterization-of-the-kk-a-y-mouse-model-a-polygenic-mutation-model-of-obese-type-2-diabetes
#30
JOURNAL ARTICLE
Nusaiba N Chowdhury, Rachel K Surowiec, Rachel K Kohler, Olivia N Reul, Dyann M Segvich, Joseph M Wallace
Type 2 diabetes (T2D) increases fracture incidence and fracture-related mortality rates (KK.Cg-Ay/J. The Jackson Laboratory; Available from: https://www.jax.org/strain/002468 ). While numerous mouse models for T2D exist, few effectively stimulate persistent hyperglycemia in both sexes, and even fewer are suitable for bone studies. Commonly used models like db/db and ob/ob have altered leptin pathways, confounding bone-related findings since leptin regulates bone properties (Fajardo et al. in Journal of Bone and Mineral Research 29(5): 1025-1040, 2014)...
April 20, 2024: Calcified Tissue International
https://read.qxmd.com/read/38641855/express-relationship-between-gut-microbiome-and-bone-deficits-in-primary-hyperparathyroidism-a-proof-of-concept-pilot-study
#31
JOURNAL ARTICLE
Meric Coskun, Afruz Babayeva, Tugba Barlas, Mehmet Muhittin Yalcin, Mujde Akturk, Fusun Toruner, Mehmet Ayhan Karakoc, Tarkan Karakan, Mehmet Cindoruk, İlhan Yetkin, Alev Altinova
Parathyroid hormone (PTH) interacts with components of the gut microbiota to exert its bone-regulating effects. This study aimed to investigate the gut microbial composition in patients with primary hyperparathyroidism (PHPT). Nine patients with PHPT and nine age-sex and body mass index-matched healthy controls were included. Gut microbial composition was assessed using 16S rRNA gene amplicon sequencing in both groups at baseline and one month after parathyroidectomy in the PHPT group. Data were imported into QIIME-2 and both QIIME-2 and R packages were used for microbiome analysis...
April 19, 2024: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://read.qxmd.com/read/38641703/extra-skeletal-manifestations-in-osteogenesis-imperfecta-mouse-models
#32
JOURNAL ARTICLE
Tara K Crawford, Brittany N Lafaver, Charlotte L Phillips
Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular matrix signaling molecule in multiple organ systems and tissues...
April 19, 2024: Calcified Tissue International
https://read.qxmd.com/read/38641611/bone-health-and-physical-activity-in-adolescents-with-juvenile-idiopathic-arthritis-a-cross-sectional-case-control-study
#33
JOURNAL ARTICLE
Egi Vasil, Colleen M Nesbitt, Clodagh Toomey, Gregor Kuntze, Shane Esau, Carolyn A Emery, Leigh Gabel
BACKGROUND: Adolescents with juvenile idiopathic arthritis (JIA) tend to engage in less physical activity than their typically developing peers. Physical activity is essential for bone development and reduced physical activity may detrimentally effect bone health. Thus, we examined differences in total body bone mineral content (BMC) and areal bone mineral density (aBMD) between adolescents with JIA and adolescent controls without JIA. We also examined associations between moderate-to-vigorous physical activity (MVPA), lean mass, and bone outcomes...
April 19, 2024: Pediatric Rheumatology Online Journal
https://read.qxmd.com/read/38640581/ten-year-fracture-risk-in-japanese-patients-with-myasthenia-gravis-a-comprehensive-assessment-using-the-fracture-risk-assessment-tool
#34
JOURNAL ARTICLE
Shingo Konno, Takafumi Uchi, Hideo Kihara, Hideki Sugimoto
BACKGROUND: Myasthenia gravis (MG) is an immune disorder that causes muscle weakness with an increasing prevalence, particularly among the elderly in Japan. Glucocorticoid treatment for MG is problematic for bone health because of reduced bone density and increased fracture risk. The fracture risk assessment tool (FRAX®) can estimate fracture risk, but its applicability in patients with MG remains uncertain. METHODS: A prospective cohort study was conducted on 54 patients with MG between April and July 2012...
April 16, 2024: Journal of the Neurological Sciences
https://read.qxmd.com/read/38640297/comprehensive-analysis-of-circrna-expression-profiles-in-postmenopausal-women-differing-in-bone-mineral-density
#35
JOURNAL ARTICLE
Kailun Huo, Tianning Chen, Dece Kong, Weiwei Zhang, Jin Shao
Postmenopausal osteoporosis (PMOP) seriously endangers the bone health of older women. Although there are currently indicators to diagnose PMOP, early diagnostic biomarkers are lacking. Circular ribonucleic acid (circRNA) has a stable structure, regulates gene expression, participates in the pathological process of disease, and has the potential to become a biomarker. The purpose of this study was to investigate circRNAs that could be used to predict patients with early PMOP. Ribonucleic acid (RNA) sequencing was performed on peripheral blood leukocytes from 15 female patients to identify differential circRNAs between different groups...
April 19, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38639562/backscatter-measurement-of-cancellous-bone-using-the-ultrasound-transit-time-spectroscopy
#36
JOURNAL ARTICLE
Yan Jia, Shuai Han, Boyi Li, Chengcheng Liu, Dean Ta
Recently, ultrasound transit time spectroscopy (UTTS) was proposed as a promising method for bone quantitative ultrasound measurement. Studies have showed that UTTS could estimate the bone volume fraction and other trabecular bone structure in ultrasonic through-transmission measurements. The goal of this study was to explore the feasibility of UTTS to be adapted in ultrasonic backscatter measurement and further evaluate the performance of backscattered ultrasound transit time spectrum (BS-UTTS) in the measurement of cancellous bone density and structure...
April 1, 2024: Journal of the Acoustical Society of America
https://read.qxmd.com/read/38639100/assessment-of-biochemical-bone-turnover-markers-in-polish-healthy-children-and-adolescents
#37
JOURNAL ARTICLE
Joanna Gajewska, Magdalena Chełchowska, Grażyna Rowicka, Witold Klemarczyk, Ewa Głąb-Jabłońska, Jadwiga Ambroszkiewicz
BACKGROUND: Assessing bone turnover in paediatric populations is crucial for understanding the physiological changes occurring during skeletal development and identifying potential abnormalities. The objective of this study was to assess osteocalcin (OC), bone alkaline phosphatase (BALP), and C-terminal telopeptide of type I collagen (CTX-I) levels reflecting bone formation and resorption for age and sex in Polish healthy children and adolescents. MATERIALS AND METHODS: A total of 355 healthy normal-weight children and adolescents (46...
February 1, 2024: Journal of mother and child
https://read.qxmd.com/read/38638595/the-microbial-revolution-in-the-world-of-joint-replacement-surgery
#38
JOURNAL ARTICLE
Arjuna Srikrishnaraj, Brent A Lanting, Jeremy P Burton, Matthew G Teeter
BACKGROUND: The prevalence of revision surgery due to aseptic loosening and periprosthetic joint infection (PJI) following total hip and knee arthroplasty is growing. Strategies to prevent the need for revision surgery and its associated health-care costs and patient morbidity are needed. Therapies that modulate the gut microbiota to influence bone health and systemic inflammation are a novel area of research. METHODS: A literature review of preclinical and clinical peer-reviewed articles relating to the role of the gut microbiota in bone health and PJI was performed...
2024: JB & JS Open Access
https://read.qxmd.com/read/38638057/half-and-full-grafting-alveolar-ridge-preservation-with-different-sealing-materials-a-three-arm-randomized-clinical-trial
#39
JOURNAL ARTICLE
Cho-Ying Lin, Meng-Yao Chiu, Pe-Yi Kuo, Hom-Lay Wang
OBJECTIVE: The objective of this study is to investigate the effect of different alveolar ridge preservation (ARP) approaches on bone resorption and their potential for facilitating implant placement. MATERIALS AND METHODS: Patients who underwent one or two tooth extractions with a desire for restoration were included in the study. The participants were randomly assigned to one of three groups for ARP. The groups were as follows: (1) Half grafting of bovine bone mineral (DBBM-C) covered with non-resorbable dense polytetrafluoroethylene (dPTFE) membrane (Test 1 group); (2) Half grafting of bovine bone mineral (DBBM-C) covered with collagen membrane (Test 2 group); and (3) Full grafting with collagen membrane (DBBM-C + Collagen membrane) as the Control group...
April 18, 2024: Clinical Implant Dentistry and related Research
https://read.qxmd.com/read/38636620/the-40-min-hiit-acutely-induced-bone-formation-which-was-likely-through-the-increases-in-muscle-derived-interleukin-6-and-adiponectin-activation-the-16%C3%A2-weeks-of-hiit-intervention-longitudinal-randomized-controlled-trial
#40
JOURNAL ARTICLE
Siriporn Sasimontonkul, Jintana Sirivarasai
PURPOSE: There is some controversy regarding cytokines released from adipocytes, particularly adiponectin, leptin, and IL6 that regulate bone remodeling. In addition, IL6 is released from muscle contraction, which might have a distinct role in bone remodeling. Hence, this study investigated whether muscle contraction during a session of 40 min of high intensity interval training (40-min HIIT) and after 16 weeks of HIIT (16-wk HIIT) altered the release of those cytokines and bone remodeling in overweight women...
April 16, 2024: Bone
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