320,441 results match your criteria skeletal

Acromesomelic dysplasia-Maroteaux type, nine patients with two novel variants.

J Pediatr Endocrinol Metab 2021 Jun 24. Epub 2021 Jun 24.

Department of Pediatric Metabolism, Sami Ulus Children Hospital, Ankara, Turkey.

Objectives: Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of , which encodes a cartilage regulator C-type natriuretic peptide receptor B. variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia. Read More

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An intronic variant disrupts mRNA splicing and causes -related skeletal dysplasia.

J Pediatr Endocrinol Metab 2021 Jun 23. Epub 2021 Jun 23.

Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.

Objectives: Achondroplasia and hypochondroplasia are the most common forms of disproportionate short stature, of which the vast majority of cases can be attributed to the hotspot missense mutations in the gene . Here we presented cases with a novel cryptic splicing variant of gene and aimed to interrogate the variant pathogenicity.

Case Presentaiton: In whole exome sequencing of two patients with hypochondroplasia-like features, a intronic variant c. Read More

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ESB Clinical Biomechanics Award 2020: Pelvis and hip movement strategies discriminate typical and pathological femoral growth - Insights gained from a multi-scale mechanobiological modelling framework.

Clin Biomech (Bristol, Avon) 2021 Jun 5;87:105405. Epub 2021 Jun 5.

Human Movement Biomechanics Research Group, KU Leuven, Belgium.

Background: Many children with cerebral palsy (CP) develop skeletal deformities during childhood. So far, it is unknown why some children with CP develop bony deformities whereas others do not. The aims of this study were to (i) investigate what loading characteristics lead to typical and pathological femoral growth, and (ii) evaluate why some children with CP develop femoral deformities whereas other do not. Read More

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Identification and functional validation of FDA-approved positive and negative modulators of the mitochondrial calcium uniporter.

Cell Rep 2021 Jun;35(12):109275

Department of Biomedical Sciences, University of Padua, 35131 Padua, Italy; Myology Center (CIR-Myo), University of Padua, 35131 Padua, Italy. Electronic address:

The mitochondrial calcium uniporter (MCU), the highly selective channel responsible for mitochondrial Ca entry, plays important roles in physiology and pathology. However, only few pharmacological compounds directly and selectively modulate its activity. Here, we perform high-throughput screening on a US Food and Drug Administration (FDA)-approved drug library comprising 1,600 compounds to identify molecules modulating mitochondrial Ca uptake. Read More

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Body mass-normalized moderate dose of dietary nitrate intake improves endothelial function and walking capacity in patients with peripheral artery disease.

Am J Physiol Regul Integr Comp Physiol 2021 Jun 23. Epub 2021 Jun 23.

School of Health & Kinesiology, grid.266815.eUniversity of Nebraska at Omaha, Omaha, NE, United States.

Peripheral artery disease (PAD) is characterized by the accumulation of atherosclerotic plaques in the lower extremity conduit arteries, which impairs blood flow and walking capacity. Dietary nitrate has been used to reduce blood pressure (BP) and improve walking capacity in PAD. However, a standardized dose for PAD has not been determined. Read More

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

N Engl J Med 2021 Jun;384(25):2406-2417

From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de Génétique Moléculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., F.R.), CHU de Montpellier, and Laboratoire de Physiologie et Médecine Expérimentale du Cœur et des Muscles (PhyMedExp), INSERM, CNRS, University of Montpellier (P.M., F.R.), Montpellier, and the Institute for Integrative Biology of the Cell (I2BC), Université Paris-Saclay, Alternative Energies and Atomic Energy Commission (CEA), CNRS Gif-sur-Yvette (F.P.-P., A.D.) - all in France; the Translational Stem Cell Biology and Metabolism Program, Research Programs Unit, and the Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki (F.S., T.G.M.); Radiation Oncology, Albert Einstein College of Medicine, New York (N.M.-L.); the Institute of Medical Genetics, University of Zurich, Zurich, Switzerland (A.B., S.A.-B., A.R.); Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany (S.R., L.S., M.S.); the Departments of Genetics (H.S.A., F.S.A.) and Neuroscience (S.A.), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; and the Dr. John T. Macdonald Foundation, Department of Human Genetics, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami (S.Z.).

Background: Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related () genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy has been associated with a range of complex human diseases, yet congenital autophagy disorders are rare. Read More

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SLC35A2-CDG: novel variants with two ends of the spectrum.

J Pediatr Endocrinol Metab 2021 Jun 21. Epub 2021 Jun 21.

Department of Pediatric Neurology, Ankara, Turkey.

Objectives: Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. Read More

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Localized chondro-ossification underlies joint dysfunction and motor deficits in the mouse model of osteogenesis imperfecta.

Proc Natl Acad Sci U S A 2021 Jun;118(25)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030;

Osteogenesis imperfecta (OI) is a genetic disorder that features wide-ranging defects in both skeletal and nonskeletal tissues. Previously, we and others reported that loss-of-function mutations in FK506 Binding Protein 10 () lead to skeletal deformities in conjunction with joint contractures. However, the pathogenic mechanisms underlying joint dysfunction in OI are poorly understood. Read More

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Disrupted osteocyte connectivity and pericellular fluid flow in bone with aging and defective TGF-β signaling.

Proc Natl Acad Sci U S A 2021 Jun;118(25)

Department of Orthopaedic Surgery, University of California, San Francisco, CA 94143;

Skeletal fragility in the elderly does not simply result from a loss of bone mass. However, the mechanisms underlying the concurrent decline in bone mass, quality, and mechanosensitivity with age remain unclear. The important role of osteocytes in these processes and the age-related degeneration of the intricate lacunocanalicular network (LCN) in which osteocytes reside point to a primary role for osteocytes in bone aging. Read More

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Muscle-nerve communication and the molecular assessment of human skeletal muscle denervation with aging.

Am J Physiol Cell Physiol 2021 Jun 23. Epub 2021 Jun 23.

Institute of Sports Medicine Copenhagen, Department of Orthopedic Surgery, Copenhagen University Hospital - Bispebjerg and Frederiksberg, Copenhagen, Denmark.

Muscle fiber denervation is a major contributor to the decline in physical function observed with aging. Denervation can occur through breakdown of the NMJ itself, affecting only that particular fiber, or through the death of a motoneuron, which can lead to a loss of all the muscle fibers in that motor unit. In this review we discuss the muscle-nerve relationship, where signaling from both the motor neuron and the muscle fiber is required for maximal preservation of neuromuscular function in old age. Read More

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Lutetium-177-PSMA-617 for Metastatic Castration-Resistant Prostate Cancer.

N Engl J Med 2021 Jun 23. Epub 2021 Jun 23.

From the School of Medicine, Tulane University, New Orleans (O.S.); the Institute of Cancer Research and Royal Marsden Hospital, London (J.B.); the British Columbia Cancer Agency, Vancouver, Canada (K.N.C.); Gustave Roussy Institute, Paris-Saclay University, Villejuif, France (K.F.); the University of Duisberg-Essen and German Cancer Consortium, University Hospital Essen, Essen (K.H.), University Hospital Münster, Münster (K.R.), and Rostock University Medical Center, Rostock (B.J.K.) - all in Germany; Weill Cornell Medicine (S.T.T.) and Memorial Sloan Kettering Cancer Center (M.J.M.) - both in New York; the Urology Cancer Center, Omaha, NE (L.T.N.); the School of Medicine, Wayne State University, Detroit (N.V.); Moffitt Cancer Center and Research Institute, Tampa, FL (G.E.-H.); Norton Cancer Institute, Louisville, KY (C.H.P.); Knight Cancer Institute, Oregon Health and Science University, Portland (T.M.B.); Endocyte (a Novartis company), West Lafayette, IN (A.A.); Novartis Pharmaceuticals, East Hanover, NJ (W.J.P.-C., M.D., E.K., R.A.M.); and Novartis Pharma, Basel, Switzerland (G.G.).

Background: Metastatic castration-resistant prostate cancer remains fatal despite recent advances. Prostate-specific membrane antigen (PSMA) is highly expressed in metastatic castration-resistant prostate cancer. Lutetium-177 (Lu)-PSMA-617 is a radioligand therapy that delivers beta-particle radiation to PSMA-expressing cells and the surrounding microenvironment. Read More

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Single-Cell RNAseq Analysis of lncRNAs.

Methods Mol Biol 2021 ;2348:71-90

Department of Biology, University of Padova, Padova, Italy.

Mammalian genomes are pervasively transcribed and a small fraction of RNAs produced codify for proteins. The importance of noncoding RNAs for the maintenance of cell functions is well known (e.g. Read More

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January 2021

Osteochondritis dissecans of the talar dome in patients with tarsal coalition.

Skeletal Radiol 2021 Jun 23. Epub 2021 Jun 23.

Department of Radiology, UC San Diego Health, 200 W. Arbor Drive, #8226, San Diego, CA, 92103, USA.

Objective: Tarsal coalition is known to cause abnormal talocrural stress, hindfoot malalignment, and ankle sprains. These can all be associated with osteochondritis dissecans (OCD) of the talar dome. We present the first detailed description of a series of talar OCDs occurring in patients with tarsal coalition, with the goal of determining whether there is an increased prevalence of OCDs among patients with tarsal coalition. Read More

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The effects of orthopedic pathological conditions and systemic diseases on the prevalence of hip osteoarthritis in Modern African- and European-Americans.

Homo 2021 Jun 23. Epub 2021 Jun 23.

Department of Physical Therapy, Movement & Rehabilitation Sciences, Northeastern University, Boston, MA, USA.

Osteoarthritis (OA) is a leading cause of disability among aging adults. In the U.S. Read More

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Effectiveness and safety of Chinese herbal formula combined with western medicine for ankylosing spondylitis: A protocol for systematic review and meta-analysis.

Medicine (Baltimore) 2021 Jun;100(25):e26374

Department of Rheumatology and Immunology, Affiliated Hospital of Liaoning University of Traditional Chinese Medicine, Shenyang, China.

Background: Ankylosing spondylitis (AS) is a chronic progressive inflammatory disease of the spine, which mainly invades the sacroiliac joint, spine, and large joints near the trunk, leading to fibrous and skeletal ankylosis and deformity, and can cause damage to the eyes, lung, cardiovascular, kidney and other organs. Chinese herbal formulas (CHF) is an important interventions of Traditional Chinese Medicine (TCM), and CHFs combined with western medicine are widely used in clinical practice to treat AS.

Methods: Eight databases will be systematically retrieved from their inceptions to March 2021. Read More

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PHoral: Effects of carnosine supplementation on quantity/quality of oral salivae in healthy volunteer and in subjects affected by common oral pathologies.

Medicine (Baltimore) 2021 Jun;100(25):e26369

Department of Pharmaceutical Sciences "Pietro Pratesi".

Background: Diseases of the oral cavity (OC) with an infectious trigger such as caries and periodontal disease are extremely common in the general population and can also have effects at the cardiovascular level. The oral salivary flow, with its buffering capacity, is able to regulate the pH of the OC and, therefore, significantly contribute to the ecological balance of the microenvironment in which the oral microbiome (OM) develops. On the other side, when the quality/quantity of salivary flow is altered it is supposed the disruption of this balance with the potential increase in oral pathogens and triggered diseases. Read More

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Impact of premature natural menopause on body composition and physical function in elderly women: A Korean frailty and aging cohort study.

Medicine (Baltimore) 2021 Jun;100(25):e26353

Department of Rehabilitation Medicine, Chungbuk National University Hospital, Cheongju.

Abstract: Induced premature menopause accelerates the rate of body composition changes (decrease in skeletal muscle mass and increase in fat mass) and deteriorating physical function. However, few studies have focused on the impact of premature natural menopause. This study aimed to investigate the impact of age at natural menopause (ANM) on body composition and physical function in elderly women. Read More

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Avishay Golz

Harefuah 2021 Jun;160(6):393-396

The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa.

Introduction: Orthopedics (also - orthopedic surgery) is a field of medicine that deals with diseases, defects, infections, tumors and injuries of the skeletal system, joints and muscles in the human body. The term orthopedics (Greek Orthos = alignment, Pais = child) was first coined in 1741 by the French surgeon Nicolas Andry de Bois-Regard, from Lyon in France, to describe correction and prevention of spinal deformities in children. Only in the second half of the 18th century, did orthopedics separate from general surgery and became a separate specialty in medicine. Read More

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Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

Am J Med Genet A 2021 Jun 23. Epub 2021 Jun 23.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.

Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies caused by homozygous pathogenic missense variants in CYP26B1. In contrast, a 22-year-old female was reported with a homozygous missense pathogenic variant in CYP26B1 with complex multisuture craniosynostosis and intellectual disability, suggesting that in some cases, biallelic pathogenic variants of CYP26B1 may be compatible with life. Read More

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Low skeletal muscle mass is associated with liver fibrosis in individuals with type 2 diabetes and NAFLD.

J Gastroenterol Hepatol 2021 Jun 23. Epub 2021 Jun 23.

Division of Endocrinology and Diabetes, Medanta The Medicity Hospital, Gurugram, Haryana, India.

Background And Aims: Type 2 diabetes (T2D) and low skeletal muscle mass (SMM) are associated with increased risk of nonalcoholic fatty liver disease (NAFLD). However, data regarding the association between Low SMM and NAFLD-related liver fibrosis in individuals with T2D are scarce. Therefore, we aimed to investigate the association between Low SMM and liver fibrosis in individuals with T2D and NAFLD. Read More

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Wiad Lek 2021 ;74(6):1401-1404


Objective: The aim: To perform a comprehensive evaluation of the effect of paroxetine on the degree of somatoform disorders in exacerbation of severe COPD in women.

Patients And Methods: Materials and methods: The study involved 53 female patients with severe COPD (Group D), confirmed by instrumental methods of study. At hospitalization, patients were divided into 2 groups. Read More

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January 2021

Interdisciplinary Approach for the Treatment of Complex Bilateral Cleft Lip and Palate With Missing Premaxilla.

Cleft Palate Craniofac J 2021 Jun 23:10556656211023241. Epub 2021 Jun 23.

Children's Health Children's Medical Center Dallas, TX, USA.

Complex craniofacial deformities such as complete bilateral cleft lip and palate require interdisciplinary approach for proper diagnosis and treatment. A severe skeletal discrepancy caused by bilateral cleft lip and palate and missing premaxilla was successfully managed with orthodontic preparation and distraction osteogenesis. Conventional prosthodontic treatment combined with orthodontic preparation was proven to be a viable option to manage multiple missing teeth in cleft lip and palate. Read More

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Winged scapula: an overview of pathophysiology, diagnosis and management.

Emerg Nurse 2021 Jun 23. Epub 2021 Jun 23.

College of Nursing, Ohio State University, Columbus, OH, US.

Patients commonly present to the emergency department (ED) with shoulder injuries and shoulder pain. Winged scapula is one potential underlying cause of shoulder pain which is often forgotten or ill-defined. This non-traumatic skeletal condition typically presents as a prominent protrusion of the medial border of the bone from its normal position in the back. Read More

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Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use.

J Bone Miner Res 2021 Jun 22. Epub 2021 Jun 22.

Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.

Adolescent idiopathic scoliosis (AIS) is a common disease causing three-dimensional spinal deformity in as many as 3% of adolescents. Development of a method that can accurately predict the onset and progression of AIS is an immediate need for clinical practice. Because the heritability of AIS is estimated as high as 87. Read More

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Intermittent Bolus Compared With Continuous Feeding Enhances Insulin and Amino Acid Signaling to Translation Initiation in Skeletal Muscle of Neonatal Pigs.

J Nutr 2021 Jun 22. Epub 2021 Jun 22.

USDA/Agricultural Research Service Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

Background: Nutrition administered as intermittent bolus feeds rather than continuously promotes greater protein synthesis rates in skeletal muscle and enhances lean growth in a neonatal piglet model. The molecular mechanisms responsible remain unclear.

Objectives: We aimed to identify the insulin- and/or amino acid-signaling components involved in the enhanced stimulation of skeletal muscle by intermittent bolus compared to continuous feeding in neonatal pigs born at term. Read More

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Effect of 2-year caloric restriction on organ and tissue size in nonobese 21- to 50-year-old adults in a randomized clinical trial: the CALERIE study.

Am J Clin Nutr 2021 Jun 22. Epub 2021 Jun 22.

Pennington Biomedical Research Center, Baton Rouge, LA, USA.

Background: Sustained calorie restriction (CR) promises to extend the lifespan. The effect of CR on changes in body mass across tissues and organs is unclear.

Objectives: We used whole-body MRI to evaluate the effect of 2 y of CR on changes in body composition. Read More

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Parafibromin Abnormalities in Ossifying Fibroma.

J Endocr Soc 2021 Jul 8;5(7):bvab087. Epub 2021 May 8.

Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, CT 06030, USA.

Ossifying fibromas are very rare tumors that are sometimes seen as part of the hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is caused by inactivating mutations of the tumor suppressor gene mutations have been identified in a subset of sporadic cases but aberrant expression of the encoded protein, parafibromin, has not been demonstrated in ossifying fibroma. We sought to determine if loss of parafibromin regularly contributes to the development of sporadic, nonsyndromic ossifying fibroma. We examined a series of 9 ossifying fibromas, including ossifying, cemento-ossifying, and juvenile active variants, for parafibromin protein expression by immunohistochemistry and for sequence abnormalities by Sanger sequencing and/or targeted AmpliSeq panel sequencing. Read More

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Relationships Between Spinal Alignment and Muscle Mass in Osteoporosis Patients Over 75 Years of Age Who Were Independent and Maintained Their Activities of Daily Living.

Cureus 2021 May 19;13(5):e15130. Epub 2021 May 19.

Orthopaedic Surgery, Kitasato University, Sagamihara, JPN.

Introduction Elderly patients with osteoporosis often complain of back pain associated with pathological vertebral fractures caused by abnormal spinal alignment. Few reports evaluate the relationships among muscle mass, bone mineral density (BMD), sagittal spinal alignment, and low back pain. We hypothesized that decreasing muscle mass in elderly patients with osteoporosis could cause spinal alignment abnormalities. Read More

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Dengue Fever-Triggered Malignant Hyperthermia.

Cureus 2021 May 19;13(5):e15121. Epub 2021 May 19.

Internal Medicine, National Hospital of Sri Lanka, Colombo, LKA.

Malignant hyperthermia (MH) is a genetic skeletal muscle disorder characterized by hypermetabolic crisis usually triggered by anesthetic drugs. Non-anesthesia-triggered or awake MH is rare or under-reported. Other than anesthetic drugs, identified common triggers are exercise, fever, and viral infection. Read More

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Mind the Localized Skeletal Pain: Chronic Recurrent Multifocal Osteomyelitis.

Cureus 2021 May 18;13(5):e15101. Epub 2021 May 18.

Internal Medicine, Singapore General Hospital, Singapore, SGP.

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare idiopathic aseptic inflammatory bone disorder affecting primarily children and adolescents characterized by an insidious onset of pain, swelling, and tenderness over the affected bones. The clinical signs and symptoms of CRMO are nonspecific, radiological and histopathological tests are essential for its diagnosis. We present a case of an 18-year-old young man who was diagnosed with CRMO by a combination of clinical data, laboratory results, radiological imaging, and bone biopsy. Read More

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