keyword
https://read.qxmd.com/read/38654931/endocrine-auxological-and-metabolic-profile-in-children-and-adolescents-with-down-syndrome-from-infancy-to-the-first-steps-into-adult-life
#1
REVIEW
Silvia Molinari, Chiara Fossati, Maria Laura Nicolosi, Santo Di Marco, Martha Caterina Faraguna, Francesca Limido, Laura Ocello, Claudia Pellegrinelli, Martina Lattuada, Alessandra Gazzarri, Alessandra Lazzerotti, Debora Sala, Chiara Vimercati, Giulia Capitoli, Cecilia Daolio, Andrea Biondi, Adriana Balduzzi, Alessandro Cattoni
Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological parameters are plotted on syndrome-specific charts, as growth rates are reduced compared to healthy age- and gender-matched peers. Furthermore, children with DS are at increased risk for thyroid dysfunctions, diabetes mellitus, osteopenia and obesity compared to general population...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38624096/endocrinological-and-metabolic-profile-of-gaucher-disease-patients-treated-with-enzyme-replacement-therapy
#2
JOURNAL ARTICLE
Ayse Kilic, Merve Emecen Sanli, Ekin Ozsaydı Aktasoglu, Sabire Gokalp, Gürsel Biberoğlu, Aslı Inci, Ilyas Okur, Fatih Suheyl Ezgu, Leyla Tumer
OBJECTIVES: Gaucher Disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status...
April 17, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38622334/capacitive-biophysical-stimulation-improves-the-healing-of-vertebral-fragility-fractures-a-prospective-multicentre-randomized-controlled-trial
#3
JOURNAL ARTICLE
Andrea Piazzolla, Davide Bizzoca, Giovanni Barbanti-Brodano, Matteo Formica, Luca Pietrogrande, Umberto Tarantino, Stefania Setti, Biagio Moretti, Giuseppe Solarino
BACKGROUND: Capacitively coupling electric fields (CCEF) is a method of non-invasive biophysical stimulation that enhances fracture repair and spinal fusion. This multicentre randomized controlled trial aimed to further examine the roles of CCEF in (1) the resolution of vertebral bone marrow oedema (VBME) using a follow-up MRI study and (2) pain relief, analgesic drug consumption and quality of life improvement in stimulated patients who were referred with acute vertebral fragility fractures (VFFs) compared to non-stimulated patients...
April 15, 2024: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://read.qxmd.com/read/38618304/navigating-the-uncharted-territory-of-pediatric-onset-multiple-sclerosis-in-a-12-year-old-male-a-case-study
#4
Han Grezenko, Imam A Shah, Astri Anindya Sariza, Amna B Baluch, Ateesh Kumar, Muhammad Abubakar
This case report presents an atypical instance of pediatric-onset multiple sclerosis (MS) in a 12-year-old male, a demographic less commonly affected by this condition. The patient's clinical course was marked by severe and progressive symptoms, including lower limb weakness and loss of bowel/bladder control, diverging from the typical relapsing-remitting pattern observed in pediatric MS. Despite initial resistance to high-dose steroid treatment, his condition was ultimately stabilized through plasmapheresis, following the detection of myelin oligodendrocyte glycoprotein antibodies...
March 2024: Curēus
https://read.qxmd.com/read/38613416/plasma-serotonin-precursors-and-metabolite-are-correlated-with-bone-mineral-density-and-bone-turnover-markers-in-patients-with-postmenopausal-osteoporosis
#5
JOURNAL ARTICLE
Qinying Feng, Xiaoyu Song, Li Liu, Xinzhong Zhou, Zhihao Chen
BACKGROUND: Serotonin (5-HT) precursors regulate bone remodeling. This study aims to investigate the correlation of plasma 5-HT precursors and metabolite with bone mineral density (BMD) and bone turnover markers in postmenopausal osteoporosis (PMOP) patients. METHODS: The age, body mass index (BMI), and years since menopause (YSM) were documented for 348 postmenopausal women in normal/osteopenia/osteoporosis (OP) groups, with lumbar spine and femoral neck BMD measured...
2024: Journal of Orthopaedic Surgery
https://read.qxmd.com/read/38607748/effects-of-anti-osteoporosis-treatment-in-elderly-patients-with-osteoporosis-and-lumbar-discectomy-and-fusion
#6
JOURNAL ARTICLE
Tao Shi, Fenyong Shou, Qun Xia, Tao Zhang, Donghui Teng, Wanli Jing, Qiang Zhou
BACKGROUND: The effect of anti-osteoporosis treatment in elderly patients with osteoporosis and lumbar discectomy and fusion (LIF) for lumbar degenerative diseases is not well known. OBJECTIVE: This study aimed to evaluate the effect of perioperative anti-osteoporosis treatment in the patients with osteoporosis and LIF. METHODS: From January to December 2022, patients were divided into three groups according to the inclusive criteria: the normal group (Group A), the osteopenia group (Group B) and the osteoporosis group (Group C)...
March 20, 2024: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/38605336/lacto-ovo-vegetarian-diet-is-inversely-associated-with-the-osteosarcopenia-in-older-adults
#7
JOURNAL ARTICLE
Runnian Huang, Junwei Hu, Yi Li, Sijia Yang, Xin Li, Tianbo Hou, Zibo Ning, Chunhua Ma, Xiaoyue Yuan, Zheng Wang, Tiantian Zhang, Difei Wang
OBJECTIVE: Osteosarcopenia adversely affects the quality of life and physical health of older adults. We sought to explore the association between dietary patterns and osteosarcopenia in community-dwelling older adults. METHODS: This is a cross-sectional study from Northeast China, in which, we included older community adults aged 60 and above. Through face-to-face interviews, we collected dietary information from participants using a food frequency questionnaire...
April 11, 2024: BMC Geriatrics
https://read.qxmd.com/read/38590901/a-novel-compound-heterozygous-variation-in-the-fkbp10-gene-causes-bruck-syndrome-without-congenital-contractures-a-case-report
#8
Liyuan Shang, Weizhe Shi, Yibo Xu, Tianying Nong, Xia Li, Zhaohui Li, Yanhan Liu, Jingchun Li, Ya-Ping Tang, Mingwei Zhu, Hongwen Xu
BACKGROUND: Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture, and spinal deformity. It is also considered as a rare form of osteogenesis imperfecta (OI) due to features of osteopenia and fragility fractures. Its two forms, BS1 and BS2, are caused by pathogenic variations in FKBP10 and PLOD2 , respectively. OBJECTIVE: We aimed to improve the clinical understanding of BS by presenting a case from China and to identify the genetic variants that led to this case...
April 15, 2024: Heliyon
https://read.qxmd.com/read/38584427/overlap-between-osteosarcopenia-and-frailty-and-their-association-with-poor-health-conditions-the-bushehr-elderly-health-beh-program
#9
JOURNAL ARTICLE
Gita Shafiee, Ali Sam Aryan, Saba Maleki Birjandi, Narges Zargar Balajam, Farshad Sharifi, Afshin Ostovar, Noushin Fahimfar, Iraj Nabipour, Bagher Larijani, Ramin Heshmat
BACKGROUND: This study investigated the association of osteosarcopenia with frailty and poor health conditions among older Iranian adults. METHODS: This cross-sectional study analyzed data from the Bushehr Elderly Health (BEH) Program. Osteosarcopenia was defined as the presence of osteopenia/osteoporosis and sarcopenia, while the Fried criteria were used to assess frailty. We assessed the history of falls and health-related quality of life (HRQoL), including physical and mental component summaries (PCS and MCS, respectively), history of fractures, activities of daily living (ADL), and instrumental activities of daily living (IADL), as indicators of poor health conditions...
April 8, 2024: Annals of geriatric medicine and research
https://read.qxmd.com/read/38574619/equisetum-arvense-standardized-dried-extract-hinders-age-related-osteosarcopenia
#10
JOURNAL ARTICLE
Laura Salvadori, Martina Paiella, Beatrice Castiglioni, Maria Laura Belladonna, Tommaso Manenti, Catia Ercolani, Luca Cornioli, Nausicaa Clemente, Andrea Scircoli, Roccaldo Sardella, Leonardo Tensi, Andrea Astolfi, Maria Letizia Barreca, Sara Chiappalupi, Giulia Gentili, Michela Bosetti, Guglielmo Sorci, Nicoletta Filigheddu, Francesca Riuzzi
Age-associated osteosarcopenia is an unresolved syndrome characterized by the concomitant loss of bone (osteopenia) and skeletal muscle (sarcopenia) tissues increasing falls, immobility, morbidity, and mortality. Unbalanced resorption of bone in the remodeling process and excessive protein breakdown, especially fast type II myosin heavy chain (MyHC-II) isoform and myofiber metabolic shift, are the leading causes of bone and muscle deterioration in the elderly, respectively. Equisetum arvense (EQ) is a plant traditionally recommended for many pathological conditions due to its anti-inflammatory properties...
April 3, 2024: Biomedicine & Pharmacotherapy
https://read.qxmd.com/read/38567227/a-rare-presentation-of-multicanal-benign-paroxysmal-positional-vertigo-in-a-premenopausal-woman-with-osteopenia-a-case-report
#11
Maleeha S Abedi, Tania S Flink, Courtney P Roca
We report a case of non-traumatic, multicanal benign paroxysmal positional vertigo (BPPV) in a premenopausal, osteopenic 35-year-old female with corresponding low bone mineral density. Dix-Hallpike and supine roll tests confirmed unilateral posterior canal (PC) BPPV from 2012-2014, and later, a rare presentation of multicanal BPPV with specifically ipsilateral horizontal canals (HC) and anterior canals (AC) affected in 2015. Heel scans displayed T-scores within the osteopenia range in 2012 until levels normalized one year later...
March 2024: Curēus
https://read.qxmd.com/read/38561203/can-dynamic-spinal-stabilization-be-an-alternative-to-fusion-surgery-in-adult-spinal-deformity-cases
#12
JOURNAL ARTICLE
Ali Fahir Ozer, Mehmet Yigit Akgun, Ege Anil Ucar, Mehdi Hekimoglu, Ahmet Tulgar Basak, Caner Gunerbuyuk, Sureyya Toklu, Tunc Oktenoglu, Mehdi Sasani, Turgut Akgul, Ozkan Ates
BACKGROUND: Rigid stabilization and fusion surgery are widely used for the correction of spinal sagittal and coronal imbalance (SCI). However, instrument failure, pseudoarthrosis, and adjacent segment disease are frequent complications of rigid stabilization and fusion surgery in elderly patients. In this study, we present the results of dynamic stabilization and 2-stage dynamic stabilization surgery for the treatment of spinal SCI. The advantages and disadvantages are discussed, especially as an alternative to fusion surgery...
April 1, 2024: International Journal of Spine Surgery
https://read.qxmd.com/read/38556561/endocrine-involvement-in-hepatic-glycogen-storage-diseases-pathophysiology-and-implications-for-care
#13
REVIEW
Alessandro Rossi, Chiara Simeoli, Rosario Pivonello, Mariacarolina Salerno, Carmen Rosano, Barbara Brunetti, Pietro Strisciuglio, Annamaria Colao, Giancarlo Parenti, Daniela Melis, Terry G J Derks
Hepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver. Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs. While some endocrine abnormalities (e.g., hypothalamic‑pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e...
April 1, 2024: Reviews in Endocrine & Metabolic Disorders
https://read.qxmd.com/read/38549808/schnurri-3-controls-osteogenic-fate-of-adipoq-lineage-progenitors-in-bone-marrow
#14
JOURNAL ARTICLE
Zan Li, Xiangchen Zeng, Baohong Shi, Jie Han, Zuoxing Wu, Xiaohui Chen, Long Zhang, Na Li, Matthew Greenblatt, Jianming Huang, Ren Xu
BACKGROUND: Recently, the osteogenic potential of Adiponectin-labeled adipogenic lineage progenitors (Adipoq-lineage progenitors) in bone marrow has been observed to support bone maintenance and repair. However, little is known about the function of Schnurri-3 (SHN3, also known as HIVEP3) in other mesenchymal lineage cells, apart from its negative regulation of bone formation on osteoblasts. METHOD: In this study, we used single-cell RNA sequencing (scRNA-seq) profiling to demonstrate that Adipoq-lineage progenitors express higher levels of Shn3 compared to other mesenchymal cell populations in mice and humans...
March 2024: Journal of Orthopaedic Translation
https://read.qxmd.com/read/38542765/course-of-vitamin-d-levels-in-newly-diagnosed-non-metastatic-breast-cancer-patients-over-one-year-with-quarterly-controls-and-substitution
#15
JOURNAL ARTICLE
Cosima Zemlin, Laura Altmayer, Marina Lang, Julia Theresa Schleicher, Caroline Stuhlert, Carolin Wörmann, Laura-Sophie Scherer, Ida Clara Thul, Lisanne Sophie Spenner, Jana Alisa Simon, Alina Wind, Elisabeth Kaiser, Regine Weber, Sybelle Goedicke-Fritz, Gudrun Wagenpfeil, Michael Zemlin, Erich-Franz Solomayer, Jörg Reichrath, Carolin Müller
(1) Background: Vitamin D levels in patients remain inadequately understood, with research yielding inconsistent findings. Breast cancer patients, particularly due to oncological therapies, face an increased risk of osteopenia, which can be exacerbated by a vitamin D deficiency. (2) Methods: The prospective observational "BEGYN-1" study assessed serum 25(OH)D levels at baseline and quarterly thereafter. Clinical, pathological, nutritional, vitamin supplementation, and lifestyle data were recorded. (3) Results: Before treatment, 68...
March 15, 2024: Nutrients
https://read.qxmd.com/read/38538623/vitamin-d-3-deficiency-and-osteopenia-in-spastic-paraplegia-type-5-indicate-impaired-bone-homeostasis
#16
JOURNAL ARTICLE
Sabrina Ehnert, Stefan Hauser, Holger Hengel, Philip Höflinger, Rebecca Schüle, Tobias Lindig, Jonathan Baets, Tine Deconinck, Peter de Jonghe, Tina Histing, Andreas K Nüssler, Ludger Schöls, Tim W Rattay
Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and afferent ataxia. SPG5 is caused by bi-allelic loss of function mutations in CYP7B1 resulting in accumulation of the oxysterols 25-hydroxycholesterol and 27-hydroxycholesterol in serum and cerebrospinal fluid of SPG5 patients. An effect of 27- hydroxycholesterol via the estrogen and liver X receptors was previously shown on bone homeostasis. This study analyzed bone homeostasis and osteopenia in 14 SPG5 patients as a non-motor feature leading to a potential increased risk for bone fractures...
March 27, 2024: Scientific Reports
https://read.qxmd.com/read/38529481/osteocyte-mediated-mechanical-response-controls-osteoblast-differentiation-and-function
#17
REVIEW
Heather VerValin Buck, Joseph Paul Stains
Low bone mass is a pervasive global health concern, with implications for osteoporosis, frailty, disability, and mortality. Lifestyle factors, including sedentary habits, metabolic dysfunction, and an aging population, contribute to the escalating prevalence of osteopenia and osteoporosis. The application of mechanical load to bone through physical activity and exercise prevents bone loss, while sufficient mechanical load stimulates new bone mass acquisition. Osteocytes, cells embedded within the bone, receive mechanical signals and translate these mechanical cues into biological signals, termed mechano-transduction...
2024: Frontiers in Physiology
https://read.qxmd.com/read/38519604/spanish-registry-of-hemoglobinopathies-and-rare-anemias-rehem-ar-demographics-complications-and-management-of-patients-with-%C3%AE-thalassemia
#18
JOURNAL ARTICLE
Eduardo J Bardón-Cancho, José Manuel Marco-Sánchez, David Benéitez-Pastor, Salvador Payán-Pernía, Anna Ruiz Llobet, Rubén Berrueco, Marina García-Morin, Cristina Beléndez, Leonor Senent, María José Ortega Acosta, Irene Peláez Pleguezuelos, Pablo Velasco, Anna Collado, Marta Moreno-Servet, Bienvenida Argilés, Inmaculada Pérez de Soto, María Del Mar Bermúdez, Eduardo J Salido Fiérrez, Adoración Blanco-Álvarez, Pablo González Navarro, Elena Cela
INTRODUCTION: The increase in the number of patients with hemoglobinopathies in Europe in recent decades highlights the need for more detailed epidemiological information in Spain. To fulfil this need, the Spanish Society of Pediatric Hematology and Oncology (SEHOP) sponsored the creation of a national registry of hemoglobinopathies known as REHem-AR (Spanish Registry of Hemoglobinopathies and Rare Anemias). Data from the transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) β-thalassemia cohorts are described and analyzed...
March 23, 2024: Annals of Hematology
https://read.qxmd.com/read/38495394/teriparatide-as-treatment-for-severe-osteoporosis-in-lung-transplant-recipients
#19
Lisa M Raven, Louise Goodall, Jacqueline R Center, Christopher A Muir
Osteoporosis and osteopenia are common in lung transplant (LTx) recipients, with a significantly increased incidence compared to other non-lung solid organ transplant patients. Despite high fracture rates, including in patients treated with antiresorptive medications, there are limited data on the use of anabolic treatments in LTx recipients. We present clinical, biochemical and bone mineral density data for 3 patients with severe osteoporosis treated with teriparatide 20 micrograms daily for 18 months post-LTx...
March 2024: JCEM Case Rep
https://read.qxmd.com/read/38491923/triceps-tendon-reattachment-using-mini-plates-and-screws-after-failure-of-olecranon-avulsion-fracture-fixation-in-osteoporotic-bone-a-case-report
#20
JOURNAL ARTICLE
Nicholas B Pohl, Parker L Brush, James Russo, Sebastian I Fras, Pedro K Beredjiklian, Daniel J Fletcher
This is a case report of an 85-year-old woman with osteopenia who underwent olecranon avulsion fracture repair with supplemental triceps tendon repair following a fall on an outstretched arm. The initial procedure failed due to osteoporotic bone quality and an atraumatic disruption of the olecranon fracture fixation. The patient subsequently underwent further surgical intervention with an olecranon avulsion fracture excision and a novel triceps tendon repair technique using plate augmentation and fiber tape...
March 16, 2024: Hand: Official Journal of the American Association for Hand Surgery
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