23,487 results match your criteria skeletal abnormalities

Protective effects of farnesyltransferase inhibitor on sepsis-induced morphological aberrations of mitochondria in muscle and increased circulating mitochondrial DNA levels in mice.

Biochem Biophys Res Commun 2021 Apr 9;556:93-98. Epub 2021 Apr 9.

Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, 02129, USA; Shriners Hospitals for Children, Boston, MA, 02114, USA.

Sepsis remains a leading cause of mortality in critically ill patients and is characterized by multi-organ dysfunction. Mitochondrial damage has been proposed to be involved in the pathophysiology of sepsis. In addition to metabolic impairments resulting from mitochondrial dysfunction, mitochondrial DNA (mtDNA) causes systemic inflammation as a damage-associated molecular pattern when it is released to the circulation. Read More

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Prevalence of comorbidities in a surgical pectus excavatum population.

J Thorac Dis 2021 Mar;13(3):1652-1657

Department of Cardiothoracic and Vascular Surgery, Aarhus University Hospital, Aarhus, Denmark.

Background: Pectus excavatum is the most common chest wall deformity and is associated to various connective tissue, cardiopulmonary, and skeletal abnormalities. Several conditions and syndromes have been associated to pectus excavatum, although the overall health implications of the pectus excavatum phenotype are unclear. Therefore, in this study we aimed to examine the health implications of the pectus excavatum phenotype by assessing all comorbidities and previous medical conditions in a cohort of patients undergoing pectus excavatum surgery. Read More

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Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening.

BJR Case Rep 2021 Apr 4;7(2):20200155. Epub 2020 Nov 4.

Department of Radiology, National Defense Medical College, Saitama, Japan.

Metatropic dysplasia (MD) is a rare skeletal disorder characterized by short stature due to epiphyseal cartilage and growth plate abnormalities. The severity of MD varies from mild to lethal. This disorder is caused by mutations in the ) that encodes calcium-permeable, nonselective cation channels. Read More

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Radiographic findings of Desbuquois dysplasia.

BJR Case Rep 2021 Apr 2;7(2):20200137. Epub 2020 Nov 2.

Department of Radiology, University of Health Sciences Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey.

Desbuquois dysplasia is an autosomal recessive chondrodysplasia characterized by severe micromelic dwarfism, joint laxity, progressive scoliosis, and advanced carpotarsal ossification. Two different types of Desbuquois dysplasia have been identified according to the presence (Type 1) or absence (Type 2) of characteristic hand abnormalities including bifid distal thumb phalanx, an extra ossification center distal to the second metacarpal, and interphalangeal joint dislocations. Further, Kim et al have described a milder variant of Desbuquois dysplasia characterized by short stature and hands with short metacarpals, elongated proximal and distal phalanges, and extremely advanced carpal ossification. Read More

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Total Knee Arthroplasty in Spondyloepiphyseal Dysplasia with Irreducible Congenital Dislocation of the Patella: Case Report and Literature Review.

Ther Clin Risk Manag 2021 30;17:275-283. Epub 2021 Mar 30.

Department of Orthopedic Surgery, Charles University, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic.

Background: Spondyloepiphyseal dysplasia is the clinical term applied to a group of rare genetic disorders with primary involvement of the vertebrae and epiphyses, predisposing the afflicted individuals toward the premature development of osteoarthritis. There are few reports concerning joint replacement therapy in these patients, particularly describing the role of total hip arthroplasty. In this report, we describe the anatomical and technical aspects of spondyloepiphyseal dysplasia that must be considered during surgical planning and performance of total knee arthroplasty. Read More

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Transient hyperphosphatasemia following pediatric liver transplantation in a patient with hepatic and skeletal abnormalities.

Clin Chim Acta 2021 Apr 4. Epub 2021 Apr 4.

Department of Laboratory Medicine and Pathology, School of Medicine, University of Minnesota, Minneapolis MN, USA. Electronic address:

Background: We report a unique case of transient hyperphosphatasemia in a pediatric patient with a history of hepatic and skeletal abnormalities.

Patient And Methods: A 2-month old male was diagnosed with progressive familial intrahepatic cholestasis type-2 and osteoporosis after marked increases in liver function tests were noted at 1 month of age. He underwent a second liver transplantation at 1 y. Read More

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An Exercise Mimetic Approach to Reduce Poststroke Deconditioning and Enhance Stroke Recovery.

Neurorehabil Neural Repair 2021 Apr 7:15459683211005019. Epub 2021 Apr 7.

University of Ottawa, ON, Canada.

Evidence supports early rehabilitation after stroke to limit disability. However, stroke survivors are typically sedentary and experience significant cardiovascular and muscular deconditioning. Despite growing consensus that preclinical and clinical stroke recovery research should be aligned, there have been few attempts to incorporate cardiovascular and skeletal muscle deconditioning into animal models of stroke. Read More

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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.

Nat Commun 2021 04 6;12(1):2046. Epub 2021 Apr 6.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

Bone formation represents a heritable trait regulated by many signals and complex mechanisms. Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). Exploration of genes that cause SBD has significantly improved our understanding of the mechanisms that regulate bone formation. Read More

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Influence of low dose naltrexone on Raman assisted bone quality, skeletal advanced glycation end-products and nano-mechanical properties in type 2 diabetic mice bone.

Mater Sci Eng C Mater Biol Appl 2021 Apr 5;123:112011. Epub 2021 Mar 5.

School of Engineering, Indian Institute of Technology Mandi, Kamand, Mandi, 175005, Himachal Pradesh, India. Electronic address:

Type 2 diabetes mellitus (T2DM) commonly affects the bone mineral phase and advanced glycation end-products (AGEs) which eventually led to changes in bone material properties on the nano and macro-scale. Several anti-diabetic compounds are widely used to control high blood sugar or glucose caused by T2DM. Low Dose Naltrexone (LDN), an opiate receptor antagonist, and a known TLR4 antagonist, treatment can improve glucose tolerance and insulin sensitivity in high-fat-diet (HFD) induced T2DM mice. Read More

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Unveiling the confusion in renal fusion anomalies: role of imaging.

Abdom Radiol (NY) 2021 Apr 3. Epub 2021 Apr 3.

Department of Radiology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.

Renal fusion anomalies are common congenital anomalies of the urogenital tract and have their genesis in the early embryonic period. They are classified into partial fusion anomalies (e.g. Read More

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Defective Oligodendroglial Lineage and Demyelination in Amyotrophic Lateral Sclerosis.

Int J Mol Sci 2021 Mar 26;22(7). Epub 2021 Mar 26.

Diseases and Hormones of the Nervous System U1195 INSERM, Paris Saclay University, 80 Rue du Général Leclerc, 94276 Le Kremlin-Bicêtre, France.

Motor neurons and their axons reaching the skeletal muscle have long been considered as the best characterized targets of the degenerative process observed in amyotrophic lateral sclerosis (ALS). However, the involvement of glial cells was also more recently reported. Although oligodendrocytes have been underestimated for a longer time than other cells, they are presently considered as critically involved in axonal injury and also conversely constitute a target for the toxic effects of the degenerative neurons. Read More

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Photobiomodulation therapy ameliorates hyperglycemia and insulin resistance by activating cytochrome c oxidase-mediated protein kinase B in muscle.

Aging (Albany NY) 2021 Mar 26;13. Epub 2021 Mar 26.

MOE Key Laboratory of Laser Life Science and Institute of Laser Life Science, South China Normal University, Guangzhou 510631, China.

Ameliorating hyperglycemia and insulin resistance are major therapeutic strategies for type 2 diabetes. Previous studies have indicated that photobiomodulation therapy (PBMT) attenuates metabolic abnormalities in insulin-resistant adipose cells and tissues. However, it remains unclear whether PBMT ameliorates glucose metabolism in skeletal muscle in type 2 diabetes models. Read More

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Revisiting Skeletal Dysplasias in the Newborn.

Neoreviews 2021 Apr;22(4):e216-e229

Division of Neonatology, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA.

With over 400 reported disorders, the skeletal dysplasias represent a myriad of molecularly-based skeletal abnormalities. Arising from errors in skeletal development, the clinical spectrum of disease evolves through an affected individual's life. The naming and grouping of these disorders are ever-changing, but the fundamentals of diagnosis remain the same and are accomplished through a combination of prenatal ultrasonography and postnatal physical examination, radiography, and genetic analysis. Read More

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Management of excessive gingival display using botulinum toxin type A: a descriptive study.

Toxicon 2021 Mar 29. Epub 2021 Mar 29.

Department of Oral and Maxillofacial Surgery, Federal University of Rio Grande do Sul (UFRGS), Rua Ramiro Barcelos, 2492, Porto Alegre/RS, Brazil. Electronic address:

Botulinum toxin is a protease used by the bacterium Clostridium botulinum that causes chemical denervation of skeletal muscles, producing a temporary weakening of muscle activity. Despite having a transitory effect, the application of botulinum toxin has been identified as an alternative for correcting an excessive gingival display (EGD). However, studies evaluating the maintenance of long-term results of botulinum toxin remain scarce. Read More

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Loss of TANGO1 Leads to Absence of Bone Mineralization.

JBMR Plus 2021 Mar 13;5(3):e10451. Epub 2021 Jan 13.

Department of Biomolecular Medicine Center for Medical Genetics Ghent, Ghent University Hospital Ghent Belgium.

(transport and Golgi organization-1 homolog) encodes a transmembrane protein, which is located at endoplasmic reticulum (ER) exit sites where it binds bulky cargo, such as collagens, in the lumen and recruits membranes from the ER-Golgi intermediate compartment (ERGIC) to create an export route for cargo secretion. Mice lacking (murine TANGO1 orthologue) show defective secretion of numerous procollagens and lead to neonatal lethality due to insufficient bone mineralization. Recently, aberrant expression of truncated TANGO1 in humans has been shown to cause a mild-to-moderate severe collagenopathy associated with dentinogenesis imperfecta, short stature, skeletal abnormalities, diabetes mellitus, and mild intellectual disability. Read More

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The β3 Adrenergic Receptor Agonist CL316243 Ameliorates the Metabolic Abnormalities of High-Fat Diet-Fed Rats by Activating AMPK/PGC-1α Signaling in Skeletal Muscle.

Diabetes Metab Syndr Obes 2021 18;14:1233-1241. Epub 2021 Mar 18.

The Research Center of Basic Integrative Medicine, Basic Medical College, Guangzhou University of Chinese Medicine, University Town, Guangzhou, 510006, People's Republic of China.

Purpose: Skeletal muscle has a major influence on whole-body metabolic homeostasis. In the present study, we aimed to determine the metabolic effects of the β3 adrenergic receptor agonist CL316243 (CL) in the skeletal muscle of high-fat diet-fed rats.

Methods: Sprague-Dawley rats were randomly allocated to three groups, which were fed a control diet (C) or a high-fat diet (HF), and half of the latter were administered 1 mg/kg CL by gavage once weekly (HF+CL), for 12 weeks. Read More

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A Rare Case Of Shprintzen-Goldberg Syndrome.

J Ayub Med Coll Abbottabad 2021 Jan-Mar;33(1):155-158

Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam, India.

Shprintzen-Goldberg syndrome is a relatively rare congenital connective tissue type of disorder with a constellation of dysmorphic features including craniosynostosis, craniofacial, skeletal, cardiovascular and neurological abnormalities. We present the case-report of a 5-year-old boy with Shprintzen-Goldberg syndrome and a brief review of literature pertaining to this condition. The patients with Shprintzen-Goldberg syndrome show a considerable phenotypic overlap with other craniosynostosis syndromes. Read More

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Joint development recovery on resumption of embryonic movement following paralysis.

Dis Model Mech 2021 Mar 26. Epub 2021 Mar 26.

Department of Zoology, School of Natural Sciences, University of Dublin, Trinity College Dublin, Ireland.

Fetal activity is a normal part of pregnancy and reduced or absent movement can lead to long-term skeletal defects such as Fetal Akinesia Deformation Sequence (FADS), joint dysplasia and arthrogryposis. A variety of animal models with decreased or absent embryonic movements show a consistent set of developmental defects providing insight into the aetiology of congenital skeletal abnormalities. At developing joints defects include reduced joint interzones with frequent fusion of cartilaginous skeletal rudiments across the joint. Read More

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Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome.

J Allergy Clin Immunol 2021 Mar 23. Epub 2021 Mar 23.

Translational Gastroenterology Unit, University of Oxford, Oxford, UK;; Department of Paediatrics, University of Oxford, Oxford, UK;; Oxford NIHR Biomedical Research Centre, Oxford, UK.

Background: Biallelic variants in IL6ST cause a recessive form of hyper-IgE syndrome (HIES) characterized by high IgE, eosinophilia, defective acute phase response, susceptibility to bacterial infections and skeletal abnormalities due to cytokine selective loss-of-function in GP130 with defective IL-6 and IL-11, variable OSM and IL-27 but sparing LIF signaling.

Objective: To understand the functional and structural impact of recessive HIES-associated IL6ST variants.

Methods: We investigated a patient with HIES using exome, genome and RNA sequencing. Read More

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MRI findings of tibialis anterior friction syndrome: a mimic of tibial stress injury.

Skeletal Radiol 2021 Mar 26. Epub 2021 Mar 26.

Department of Radiology, The Royal Orthopaedic Hospital NHS Foundation Trust, Birmingham, UK.

Objective: To describe a distinct constellation of MRI demonstrated soft tissue abnormalities centred around the tibialis anterior tendon in a subset of patients presenting as suspected tibial stress injury.

Materials And Methods: A retrospective review was performed of the clinical and MRI imaging findings from 5 selected patients referred for MRI with suspected tibial stress injury. MRI studies at presentation of each case were systematically reviewed for peritendinous fluid, tibialis anterior tendon change, tibialis anterior muscle and myotendinous junction oedema, periosteal oedema over the tibia and tibial marrow oedema. Read More

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Hematological manifestations and complications of Gaucher disease.

Expert Rev Hematol 2021 Mar 31:1-8. Epub 2021 Mar 31.

Gaucher Unit, Shaare Zedek Medical Centre, Jerusalem, Israel.

: Gaucher disease (GD), although pan-ethnic and rare (common in Ashkenazi Jews), is of great importance to hematologists both for diagnosis and management. The need for increased awareness of GD is that delayed diagnosis may lead to preventable irreversible complications (mainly skeletal) or unnecessary invasive procedures (e.g. Read More

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BMP4/ALK3 deficiency leads to Meckel's cartilage truncation mimicking the mandible Tessier 30 cleft.

Oral Dis 2021 Mar 23. Epub 2021 Mar 23.

School and Hospital of Stomatology, Fujian Medical University, Fuzhou, China.

Objective: In chondrogenesis, BMP signaling was inferred to exhibit regional specificity during Meckel's cartilage morphogenesis. This study aimed to explore the differences in BMP signaling activity between different parts of Meckel's cartilage and the impacts of BMP4 or ALK3 deficiency on the development of Meckel's cartilage during embryogenesis.

Materials And Methods: The BRE-gal reporter mouse line was utilized to gain an overall picture of canonical BMP signaling activity, as assessed by X-gal staining. Read More

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Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.

Orphanet J Rare Dis 2021 Mar 22;16(1):144. Epub 2021 Mar 22.

Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Çukurova University, 01130, Sarıçam, Adana, Turkey.

Background: This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density). Read More

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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.

Am J Med Genet A 2021 Mar 22. Epub 2021 Mar 22.

Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Colony stimulating factor 1 receptor (CSF1R, MIM# 164770) encodes a tyrosine-kinase receptor playing an important role in development of osteoclasts and microglia. Heterozygous CSF1R variants have been known to cause hereditary diffuse leukoencephalopathy with spheroids (HDLS, MIM# 221820), an adult-onset leukoencephalopathy characterized by loss of motor functions and cognitive decline. Recently, a new phenotype characterized by brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) with biallelic CSF1R pathogenic variants in the etiology has been described. Read More

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A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.

Clin Med Insights Case Rep 2021 6;14:1179547621999409. Epub 2021 Mar 6.

Department of Laboratory Medicine and Pathology, School of Medicine, University of Minnesota, Minneapolis, MN, USA.

Mucopolysaccharidosis IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder resulting from N-acetylgalactosamine-6-sulfatase (GALNS) deficiency that occurs in approximately 1 in 76 000 to 1 in 640 000 live births. Given that the diagnosis of MPS IVA relies heavily on the results of initial urine glycosaminoglycan (GAG) screening, cases that present with falsely normal urine GAG concentrations can delay the diagnosis and follow-up care for patients. This case study follows a patient diagnosed with MPS IVA at 9 months of age based on relation to a consanguineous 3-year-old sibling with MPS IVA and the use of direct enzyme activity analysis. Read More

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The microcephaly gene Donson is essential for progenitors of cortical glutamatergic and GABAergic neurons.

PLoS Genet 2021 Mar 19;17(3):e1009441. Epub 2021 Mar 19.

Institute of Pharmacology and Toxicology, Jena University Hospital, Jena, Germany.

Biallelic mutations in DONSON, an essential gene encoding for a replication fork protection factor, were linked to skeletal abnormalities and microcephaly. To better understand DONSON function in corticogenesis, we characterized Donson expression and consequences of conditional Donson deletion in the mouse telencephalon. Donson was widely expressed in the proliferation and differentiation zones of the embryonic dorsal and ventral telencephalon, which was followed by a postnatal expression decrease. Read More

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[Marfan syndrome and related disorders].

Rev Prat 2020 Nov;70(9):1005-1009

CRMR syndrome de Marfan et apparentés, AP-HP, hôpital Bichat, Paris France ; Université de Paris.

Marfan syndrome and related disorders. Marfan syndrome is an autosomal dominant disease, affecting about 1/5000 persons. It includes aortic wall fragility responsible for aortic root dilatation and risk of dissection, mitral valve prolapse, ophthalmological features (ectopia lentis, flat cornea, myopia), skeletal features (excessive height, arachnodactyly, thoracic deformity with pectus, scoliosis, and flat feet), cutaneous striae, particularly in the front of the shoulders, and dural ectasia. Read More

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November 2020

Mini-microform cleft lip with complete cleft alveolus and palate: A case report.

Congenit Anom (Kyoto) 2021 Mar 17. Epub 2021 Mar 17.

Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Toyama, Toyama, Japan.

Cleft lip and cleft alveolus are caused by incomplete fusion of the frontonasal and maxillary prominences. However, milder forms of cleft lip are rarely accompanied by cleft alveolus. Here, we report a rare case of mini-microform cleft lip with complete cleft alveolus and cleft palate. Read More

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Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.

JIMD Rep 2021 Mar 12;58(1):104-113. Epub 2021 Jan 12.

Departamento Ciencias Fisiológicas Escuela de Ciencias Básicas, Grupo de investigación Enfermedades Congénitas del Metabolismo, Facultad de Salud, Universidad del Valle Cali Colombia.

Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the gene, which leads to deficient activity of N-acetylglucosamine-6-sulfate sulfatase. MPS IVA patients usually present skeletal dysplasia, coarse features, short stature, airway obstruction, cervical spinal cord compression, dental abnormalities, and cardiac valvular alterations. Enzyme replacement therapy (ERT) with elosulfase alfa is the only disease-specific treatment available for MPS IVA patients and has been shown to improve important clinical and biochemical parameters; however, little is known about the effects of ERT interruption on these patients. Read More

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