4,424 results match your criteria causing skeletal


Secondary Denervation is a Chronic Pathophysiologic Sequela of Volumetric Muscle Loss.

J Appl Physiol (1985) 2021 Apr 8. Epub 2021 Apr 8.

School of Kinesiology, University of Minnesota, United States.

Volumetric muscle loss (VML) is the traumatic loss of muscle tissue that results in long-term functional impairments. Despite the loss of myofibers, there remains an unexplained significant decline in muscle function. VML injury likely extends beyond the defect area, causing negative secondary outcomes to the neuromuscular system, including the neuromuscular junctions (NMJs), yet the extent to which VML induces denervation is unclear. Read More

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Authors:
Annie Laquerriere Dana Jaber Emanuela Abiusi Jérome Maluenda Dan Mejlachowicz Alexandre Vivanti Klaus Dieterich Radka Stoeva Loic Quevarec Flora Nolent Valerie Biancalana Philippe Latour Damien Sternberg Yline Capri Alain Verloes Bettina Bessieres Laurence Loeuillet Tania Attie-Bitach Jelena Martinovic Sophie Blesson Florence Petit Claire Beneteau Sandra Whalen Florent Marguet Jerome Bouligand Delphine Héron Géraldine Viot Jeanne Amiel Daniel Amram Céline Bellesme Martine Bucourt Laurence Faivre Pierre-Simon Jouk Suonavy Khung Sabine Sigaudy Anne-Lise Delezoide Alice Goldenberg Marie-Line Jacquemont Laetitia Lambert Valérie Layet Stanislas Lyonnet Arnold Munnich Lionel Van Maldergem Juliette Piard Fabien Guimiot Pierre Landrieu Pascaline Letard Fanny Pelluard Laurence Perrin Marie-Hélène Saint-Frison Haluk Topaloglu Laetitia Trestard Catherine Vincent-Delorme Helge Amthor Christine Barnerias Alexandra Benachi Eric Bieth Elise Boucher Valerie Cormier-Daire Andrée Delahaye-Duriez Isabelle Desguerre Bruno Eymard Christine Francannet Sarah Grotto Didier Lacombe Fanny Laffargue Marine Legendre Dominique Martin-Coignard André Mégarbané Sandra Mercier Mathilde Nizon Luc Rigonnot Fabienne Prieur Chloé Quélin Hanitra Ranjatoelina-Randrianaivo Nicoletta Resta Annick Toutain Helene Verhelst Marie Vincent Estelle Colin Catherine Fallet-Bianco Michèle Granier Romulus Grigorescu Julien Saada Marie Gonzales Anne Guiochon-Mantel Jean-Louis Bessereau Marcel Tawk Ivo Gut Cyril Gitiaux Judith Melki

J Med Genet 2021 Apr 5. Epub 2021 Apr 5.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France

Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families. Read More

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Fragility Fractures and Imminent Fracture Risk in the Spanish Population: A Retrospective Observational Cohort Study.

J Clin Med 2021 Mar 5;10(5). Epub 2021 Mar 5.

Departamento de Medicina, Universidad de Sevilla, Avda. Dr. Fedriani s/n, 41009 Sevilla, Spain.

Fragility fractures constitute a major public health problem worldwide, causing important high morbidity and mortality rates. The aim was to present the epidemiology of fragility fractures and to assess the imminent risk of a subsequent fracture and mortality. This is a retrospective population-based cohort study (n = 1369) with a fragility fracture. Read More

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Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.

Int J Mol Sci 2021 Mar 11;22(6). Epub 2021 Mar 11.

Department of Biomedical Sciences for Health, University of Milan, 20090 Milano, Italy.

Mutations in the acidic alpha-glucosidase (GAA) coding gene cause Pompe disease. Late-onset Pompe disease (LOPD) is characterized by progressive proximal and axial muscle weakness and atrophy, causing respiratory failure. Enzyme replacement therapy (ERT), based on recombinant human GAA infusions, is the only available treatment; however, the efficacy of ERT is variable. Read More

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The Medial Femoral Condyle Flap in the Pediatric Patient.

Plast Reconstr Surg 2021 Apr;147(4):613e-622e

From the Division of Plastic Surgery, Department of Surgery, Yale School of Medicine; the Division of Plastic Surgery, Department of Surgery, Baylor College of Medicine; the Division of Plastic Surgery, Department of Surgery, and the Department of Orthopaedic Surgery, University of Pennsylvania Health System; and Plastic and Reconstructive Microsurgery, Careggi University Hospital.

Background: The use of free flaps from the medial femoral condyle has grown in popularity and is now a workhorse in the reconstruction of skeletal defects. The utility of this technique has not yet been described for the pediatric patient population. The authors present their series of pediatric patients who underwent surgery using a medial femoral condyle free flap or a variant thereof in skeletal reconstruction and demonstrate the efficacy of this technique in this population. Read More

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The Effect of Normobaric Intermittent Hypoxia Therapy on Bone in Normal and Disuse Osteopenic Mice.

High Alt Med Biol 2021 Mar 26. Epub 2021 Mar 26.

Orthopedic Research Lab, Aarhus University Hospital, Aarhus, Denmark.

Bromer, Frederik Duch, Mikkel Bo Brent, Michael Pedersen, Jesper Skovhus Thomsen, Annemarie Brüel, and Casper Bindzus Foldager. The effect of normobaric intermittent hypoxia therapy on bone in normal and disuse osteopenic mice. 00:000-000, 2021. Read More

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A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.

BMC Neurol 2021 Mar 9;21(1):105. Epub 2021 Mar 9.

Human Genetics Unit, Department of Anatomy, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka.

Background: Collagen VI-related dystrophies are a subtype of congenital muscular dystrophy caused by pathogenic variants in COL6A1, COL6A2 or COL6A3 genes affecting skeletal muscles and connective tissue. The clinical phenotype ranges from the milder Bethlem myopathy to the severe Ullrich congenital muscular dystrophy (UCMD). Herein, we report the first consanguineous Sri Lankan family with two children affected with UCMD due to a novel variant in the COL6A1 gene. Read More

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Radiation exposure and establishment of diagnostic reference levels of whole-body low-dose CT for the assessment of multiple myeloma with second- and third-generation dual-source CT.

Acta Radiol 2021 Mar 20:2841851211003287. Epub 2021 Mar 20.

Department of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany.

Background: In the assessment of diseases causing skeletal lesions such as multiple myeloma (MM), whole-body low-dose computed tomography (WBLDCT) is a sensitive diagnostic imaging modality, which has the potential to replace the conventional radiographic survey.

Purpose: To optimize radiation protection and examine radiation exposure, and effective and organ doses of WBLDCT using different modern dual-source CT (DSCT) devices, and to establish local diagnostic reference levels (DRL).

Material And Methods: In this retrospective study, 281 WBLDCT scans of 232 patients performed between January 2017 and April 2020 either on a second- (A) or third-generation (B) DSCT device could be included. Read More

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Mol Biol Rep 2021 Mar 19. Epub 2021 Mar 19.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the large subunit of the mitochondrial ribosome, have been identified in four patients with OXPHOS defects and early-onset hypertrophic cardiomyopathy with or without additional clinical features. A 23-year-old individual with cardiac and skeletal myopathy, neurological involvement, and combined deficiency of OXPHOS complexes in skeletal muscle was clinically and genetically investigated. Read More

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Novel Mutation m.10372A>G in Causing Sensorimotor Axonal Polyneuropathy.

Neurol Genet 2021 Apr 15;7(2):e566. Epub 2021 Mar 15.

Department of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.

Objective: To investigate the pathogenicity of a novel mutation identified in a patient with adult-onset sensorimotor axonal polyneuropathy and report the clinical, morphologic, and biochemical findings.

Methods: Clinical assessments and morphologic and biochemical investigations of skeletal muscle and cultured myoblasts from the patient were performed. Whole-genome sequencing (WGS) of DNA from skeletal muscle and Sanger sequencing of mitochondrial DNA (mtDNA) from both skeletal muscle and cultured myoblasts were performed. Read More

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Med 2021 Mar 17;13(1):40. Epub 2021 Mar 17.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Background: We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD represents a long-term collaborative initiative between Karolinska University Hospital and Science for Life Laboratory to establish advanced, genomics-based diagnostics in the Stockholm healthcare setting.

Methods: Our analysis covers detection and interpretation of SNVs, INDELs, uniparental disomy, CNVs, balanced structural variants, and short tandem repeat expansions. Read More

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Targeted Inactivation of Rin3 Increases Trabecular Bone Mass by Reducing Bone Resorption and Favouring Bone Formation.

Calcif Tissue Int 2021 Mar 16. Epub 2021 Mar 16.

Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

Common genetic variants at the RIN3 locus on chromosome 14q32 predispose to Paget's disease of bone (PDB) but the mechanisms by which they do so are unknown. Here, we analysed the skeletal phenotype of female mice with targeted inactivation of the mouse Rin3 gene (Rin3) as compared with wild-type littermates. The Rin3 mice had higher trabecular bone volume (BV/TV%) compared with wild type. Read More

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Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation.

Indian J Pediatr 2021 Mar 13. Epub 2021 Mar 13.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Monogenic disorders causing systemic lupus erythematosus represent a small subset of cases. Type-1 interferonopathies, like spondyloenchondrodysplasia with immune dysregulation constitute an important functional category of monogenic lupus. Apart from autoimmune disorders, neurological and skeletal abnormalities are additional manifestations observed in this disorder. Read More

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Allyl Methyl Sulfide Preserved Pressure Overload-Induced Heart Failure Via Modulation of Mitochondrial Function.

Biomed Pharmacother 2021 Mar 5;138:111316. Epub 2021 Mar 5.

Non-Communicable Diseases Group, Translational Health Science and Technology Institute (THSTI), Faridabad, 121001, India; Department of Biotechnology, National Institute of Pharmaceutical Education and Research (NIPER), Guwahati, 781101, India. Electronic address:

Background: Cardiovascular diseases are the leading cause of death globally, and they are causing enormous socio-economic burden to the developed and developing countries. Allyl Methyl Sulfide (AMS) is a novel cardioprotective metabolite identified in the serum of rats after raw garlic administration. The present study explored the cardioprotective effect of AMS on thoracic aortic constriction (TAC)-induced cardiac hypertrophy and heart failure model in rats. Read More

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Sternocostoclavicular Hyperostosis: Positive Clinical and Radiological Response on Pamidronate.

Front Endocrinol (Lausanne) 2021 18;12:621604. Epub 2021 Feb 18.

Center for Bone Quality, Division of Endocrinology, Department of Internal Medicine, Leiden University Medical Center, Leiden, Netherlands.

Background: Sternocostoclavicular hyperostosis (SCCH) is a rare disease, constituting a chronic sterile osteomyelitis with elevated bone turnover in the axial skeleton, causing pain and shoulder dysfunction. SCCH severely interferes with daily activities, work, and quality of life. SCCH has a relapse-remitting disease course, but inflammatory-induced sclerotic transformation in the affected area is slowly progressive. Read More

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February 2021

A case report of Jarcho-Levin syndrome.

J Family Community Med 2021 Jan-Apr;28(1):55-58. Epub 2021 Jan 7.

Department of Microbiology, GITAM Institute of Medical Sciences and Research (GIMSR), Visakhapatnam, Andhra Pradesh, India.

Jarcho-Levin syndrome (JLS) is a rare, congenital disorder, inherited in an autosomal recessive pattern, that represents a spectrum of clinical and radiographic abnormalities of the spine and chest. The present case report discusses two siblings, an 11 year old girl and a 6 year old boy, diagnosed as cases of JLS based on family history and clinical-radiological findings. The main features of the syndrome are shortness of stature with a spinal abnormality, multiple abnormal vertebral defects, and a small malformed "fan-like" or "crab-like" rib cage due to posterior fusion and anterior flaring of the ribs, leading to short-trunk dwarfism. Read More

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January 2021

A Novel Titin Truncation Variant Linked to Familial Dilated Cardiomyopathy Found in a Japanese Family and Its Functional Analysis in Genome-Edited Model Cells.

Int Heart J 2021 Mar 6;62(2):359-366. Epub 2021 Mar 6.

Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University (TMDU).

Dilated cardiomyopathy (DCM) is a common cause of heart failure. TTN, which encodes titin protein, is a representative causative gene of DCM, and is presented mainly as a truncation variant. However, TTN truncation variants are also found in healthy individuals, and it is therefore important to evaluate the pathogenicity of each variant. Read More

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A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.

Taiwan J Obstet Gynecol 2021 Mar;60(2):359-362

Department of Obstetrics and Gynecology, Taipei Chang Gung Memorial Hospital, Taipei, Taiwan; School of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address:

Objective: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1.

Case Report: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. Read More

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Resveratrol protects MC3T3-E1 cells against cadmium-induced suppression of osteogenic differentiation by modulating the ERK1/2 and JNK pathways.

Ecotoxicol Environ Saf 2021 May 5;214:112080. Epub 2021 Mar 5.

Department of Chinese Medicine, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, PR China; School of Traditional Chinese Medicine, Jinan University, Guangzhou, Guangdong 510630, PR China. Electronic address:

Resveratrol (RES) is a natural polyphenolic compound with a broad range of physiological and pharmacological properties. Previous studies have shown that RES also plays an important role in protecting and promoting early bone metabolism and differentiation. The accumulation of cadmium (Cd), one of the world's most poisonous substances, can inhibit skeletal growth and bone maturation, thus causing osteoporosis. Read More

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Nanomedicine for Gene Delivery and Drug Repurposing in the Treatment of Muscular Dystrophies.

Pharmaceutics 2021 Feb 19;13(2). Epub 2021 Feb 19.

Laboratoire d'Automatique, de Génie des Procédés et de Génie Pharmaceutique, Université Claude Bernard Lyon 1, CNRS UMR 5007, 43 bd 11 Novembre 1918, 69622 Villeurbanne, France.

Muscular Dystrophies (MDs) are a group of rare inherited genetic muscular pathologies encompassing a variety of clinical phenotypes, gene mutations and mechanisms of disease. MDs undergo progressive skeletal muscle degeneration causing severe health problems that lead to poor life quality, disability and premature death. There are no available therapies to counteract the causes of these diseases and conventional treatments are administered only to mitigate symptoms. Read More

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February 2021

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in Causing Bruck Syndrome Type 2.

Front Genet 2021 16;12:619948. Epub 2021 Feb 16.

Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, China.

Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in and genes, respectively. In this study, a family that had experienced multiple miscarriages and recurrent fetal skeletal dysplasia was recruited for the purpose of a multiplatform laboratory investigation. Prenatal genetic testing with whole-exome sequencing (WES) identified a compound heterozygous variation in the gene with two variants, namely c. Read More

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February 2021

Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension.

Nat Commun 2021 03 4;12(1):1444. Epub 2021 Mar 4.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

TRPV4 is a cell surface-expressed calcium-permeable cation channel that mediates cell-specific effects on cellular morphology and function. Dominant missense mutations of TRPV4 cause distinct, tissue-specific diseases, but the pathogenic mechanisms are unknown. Mutations causing peripheral neuropathy localize to the intracellular N-terminal domain whereas skeletal dysplasia mutations are in multiple domains. Read More

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Begelomab for severe refractory dermatomyositis: A case report.

Medicine (Baltimore) 2021 Mar;100(9):e24372

Division of Immunology, Transplantation and Infectious diseases, IRCCS Ospedale San Raffaele.

Rationale: Severe refractory idiopathic inflammatory myopathy (IIM) represents a challenge for the clinician. The lack of efficacy of available tools reflects our incomplete insight into the molecular events sustaining the inflammatory tissue damage in these patients. We present the first case of refractory IIM treated with anti-dipeptidyl peptidase-4 (DPP-4)/cluster of differentiation 26 (CD26) monoclonal antibody. Read More

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Rarity of congenital malformation and deformity in the fossil record of vertebrates - A non-human perspective.

Int J Paleopathol 2021 Feb 27;33:30-42. Epub 2021 Feb 27.

Department of Radiology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Hindenburgdamm 30, 12203 Berlin, Germany. Electronic address:

Objective: A malformed pectoral joint of the middle Devonian antiarch fish Asterolepis ornata is described, and a survey of congenital malformations in the fossil record is provided.

Materials: The specimen of A. ornata (MB. Read More

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February 2021

The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis.

J Neuromuscul Dis 2021 Feb 24. Epub 2021 Feb 24.

Frambu Resource Centre for Rare Disorders (Frambu), Siggerud, Norway.

Background: Primary periodic paralysis (PPP) are rare inherited neuromuscular disorders including Hypokalemic periodic paralysis (HypoPP), Hyperkalemic periodic paralysis (HyperPP) and Andersen-Tawil syndrome (ATS) characterised by attacks of weakness or paralysis of skeletal muscles. Limited effective pharmacological treatments are available, and avoidance of lifestyle related triggers seems important.

Objective: Our aim was to search and assess the scientific literature for information on trigger factors related to nutrition and physical activity in PPP. Read More

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February 2021

Green tea extracts containing epigallocatechin-3-gallate modulate facial development in Down syndrome.

Sci Rep 2021 Feb 25;11(1):4715. Epub 2021 Feb 25.

GREAB-Research Group in Biological Anthropology, Department of Evolutionary Biology, Ecology and Environmental Sciences (BEECA), Universitat de Barcelona (UB), Barcelona, Spain.

Trisomy of human chromosome 21 (Down syndrome, DS) alters development of multiple organ systems, including the face and underlying skeleton. Besides causing stigmata, these facial dysmorphologies can impair vital functions such as hearing, breathing, mastication, and health. To investigate the therapeutic potential of green tea extracts containing epigallocatechin-3-gallate (GTE-EGCG) for alleviating facial dysmorphologies associated with DS, we performed an experimental study with continued pre- and postnatal treatment with two doses of GTE-EGCG supplementation in a mouse model of DS, and an observational study of children with DS whose parents administered EGCG as a green tea supplement. Read More

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February 2021

Human major infections: Tuberculosis, treponematoses, leprosy-A paleopathological perspective of their evolution.

PLoS One 2021 25;16(2):e0243687. Epub 2021 Feb 25.

Department of Archaeology, Flinders University, Adelaide, Australia.

The key to evolution is reproduction. Pathogens can either kill the human host or can invade the host without causing death, thus ensuring their own survival, reproduction and spread. Tuberculosis, treponematoses and leprosy are widespread chronic infectious diseases whereby the host is not immediately killed. Read More

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February 2021

Sagittal Deformity Correction in a Patient Suffering From Diffuse Idiopathic Skeletal Hyperostosis Who Previously Underwent a Total Hip and Bilateral Knee Replacement.

Geriatr Orthop Surg Rehabil 2021 11;12:2151459321992745. Epub 2021 Feb 11.

Complejo Hospitalario Universitario de Albacete, Albacete, Spain.

Introduction: Physiological aging frequently leads to degenerative changes and spinal deformity. In patients with hypolordotic fusions or ankylosing illnesses such as diffuse idiopathic skeletal hyperostosis or ankylosing spondylitis, compensation mechanisms can be altered causing severe pain and disability. In addition, if a total hip replacement and/or knee replacement is performed, both pelvic and lower limbs compensation mechanisms could be damaged and prosthetic dislocation or impingement syndrome could be present. Read More

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February 2021