32,326 results match your criteria Spondyloepiphyseal Dysplasia

Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

World J Surg Oncol 2022 Jun 29;20(1):218. Epub 2022 Jun 29.

Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, 150 Ximen Road, Linhai, 317000, Zhejiang, China.

Background: Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment.

Case Presentation: We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. Read More

View Article and Full-Text PDF

Metformin alleviates osteoarthritis in mice by inhibiting chondrocyte ferroptosis and improving subchondral osteosclerosis and angiogenesis.

J Orthop Surg Res 2022 Jun 28;17(1):333. Epub 2022 Jun 28.

Ningxia Medical University, The General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China.

Background: Osteoarthritis (OA) is the most common musculoskeletal disease, and it has a complex pathology and unknown pathogenesis. Chondrocyte ferroptosis is closely associated with the development of OA. As a common drug administered for the treatment of type 2 diabetes, metformin (Met) is known to inhibit the development of ferroptosis. Read More

View Article and Full-Text PDF

Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.

Orphanet J Rare Dis 2022 Jun 28;17(1):249. Epub 2022 Jun 28.

Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH), Shenzhen, 518053, Guangdong, China.

Background: Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been channeled towards understanding molecular mechanisms and developing new treatments. It has recently become more apparent that patient-reported outcome measurements (PROM) during treatment, healing and rehabilitation are helpful in facilitating smoother communication, refining intervention strategies and achieving higher quality of life. Read More

View Article and Full-Text PDF

Extreme Genu Recurvatum Deformity in a Pediatric Patient With Spondyloepiphyseal Dysplasia: Gradual Correction With Z-plates and Hexapod Frame.

Cureus 2022 May 23;14(5):e25265. Epub 2022 May 23.

Pediatric Orthopedics, Phoenix Children's Hospital, University of Arizona College of Medicine - Phoenix, Phoenix, USA.

Spondyloepiphyseal dysplasia is a type II collagenopathy with resulting spinal and extremity deformities. The clinical manifestations include short stature, hearing loss, kyphoscoliosis, and complex knee deformities. Genu recurvatum can be a challenging surgical problem, especially when the deformity is severe. Read More

View Article and Full-Text PDF

Examining delays in diagnosis for slipped capital femoral epiphysis from a health disparities perspective.

PLoS One 2022 24;17(6):e0269745. Epub 2022 Jun 24.

Department of Orthopedics, Cook Children's Medical Center, Fort Worth, Texas, United States of America.

Slipped Capital Femoral Epiphysis (SCFE) is a skeletal pathology affecting adolescents which requires timely surgery to prevent progression. Delays in diagnosis and treatment of SCFE can negatively affect patient prognosis, and few studies have examined how health disparities and barriers to care may influence these delays. In particular, only a handful of studies have included a Hispanic patient sample, despite this ethnic group's increased risk for the disease and unique barriers to care. Read More

View Article and Full-Text PDF

Clinical, radiographic, and genetic observations in 2 families with cleidocranial dysplasia.

Gen Dent 2022 Jul-Aug;70(4):59-66

The clinical, radiographic, and molecular alterations in 7 individuals belonging to 2 families with clinical characteristics of cleidocranial dysplasia (CCD) were investigated. The patients underwent karyotype and genetic sequencing examinations. Cytogenetic analysis did not demonstrate any alterations. Read More

View Article and Full-Text PDF

Re-Assessment of Applicability of Greulich and Pyle-Based Bone Age to Korean Children Using Manual and Deep Learning-Based Automated Method.

Yonsei Med J 2022 Jul;63(7):683-691

Department of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

Purpose: To evaluate the applicability of Greulich-Pyle (GP) standards to bone age (BA) assessment in healthy Korean children using manual and deep learning-based methods.

Materials And Methods: We collected 485 hand radiographs of healthy children aged 2-17 years (262 boys) between 2008 and 2017. Based on GP method, BA was assessed manually by two radiologists and automatically by two deep learning-based BA assessment (DLBAA), which estimated GP-assigned (original model) and optimal (modified model) BAs. Read More

View Article and Full-Text PDF

Dominant Stickler Syndrome.

Genes (Basel) 2022 Jun 18;13(6). Epub 2022 Jun 18.

John van Geest Centre for Brain Repair, Vitreoretinal Research Group, University of Cambridge, Forvie Site, Robinson Way, Cambridge CB2 0PY, UK.

The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas pathogenic variants of type XI collagen more usually exert dominant negative effects. Read More

View Article and Full-Text PDF

A Multimodal Approach to Huge Fibrous Dysplasia With Ocular Symptoms Using a Navigation System and Endoscope.

J Craniofac Surg 2022 May 12;33(3):e342-e345. Epub 2021 Oct 12.

Department of Plastic and Reconstructive Surgery, Seoul National University Bundang Hospital, Seongnam.

Background: Fibrous dysplasia (FD) is a rare sporadic benign disease, which involves from single to several bones with unilateral distribution. Recently, image-based surgical navigation systems have played a significant role in surgical process on neurological and orthopedic operations. However, because an intraoral approach can visualize the field for maxillary surgery, there are few cases using endoscopes for excision of FD. Read More

View Article and Full-Text PDF

FAM111A is dispensable for electrolyte homeostasis in mice.

Sci Rep 2022 Jun 17;12(1):10211. Epub 2022 Jun 17.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have reported FAM111A to function in antiviral response and DNA replication, its role in regulating electrolyte homeostasis remains unknown. Read More

View Article and Full-Text PDF

A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic.

Orphanet J Rare Dis 2022 06 16;17(1):229. Epub 2022 Jun 16.

Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Background: Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide was approved for the treatment of ACH. A total of six other inhibitors of FGFR3 signaling are currently undergoing clinical evaluation for ACH. Read More

View Article and Full-Text PDF

Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia.

N Engl J Med 2022 06;386(24):2295-2302

From the Division of Hematology, Oncology, Stem Cell Transplantation, and Regenerative Medicine (A.B., K.W., R.P., K.M.K., G.B., R.A., P.F.S., A.J.S., M.G.R.), the Center for Definitive and Curative Medicine (A.B., K.W., R.P., K.M.K., G.B., R.A., P.F.S., A.J.S., M.G.R.), and the Divisions of Nephrology (P.C.G., W.C.) and Allergy, Immunology, and Rheumatology (E.L., G.D., V.R., J.M.S., D.B.L.), Department of Pediatrics, and the Departments of Surgery (A.G., W.C.) and Pediatrics (W.C.), Stanford University School of Medicine, and Department of Pharmacy (S.G.G.), Stanford Children's Health - both in Stanford, CA; the Divisions of Pediatric Nephrology (S.F.-S.) and Pediatric Allergy and Immunology (T.P.A.), Department of Pediatrics, University of Alabama, Birmingham; the Division of Nephrology, Department of Pediatrics, Oregon Health Sciences University, Portland (A. A.-U.); the Terry Fox Laboratory, BC Cancer Agency, Vancouver, Canada (G.A.); and the Department of Clinical Pharmacy, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands (K.E.).

Lifelong immunosuppression is required for allograft survival after kidney transplantation but may not ultimately prevent allograft loss resulting from chronic rejection. We developed an approach that attempts to abrogate immune rejection and the need for post-transplantation immunosuppression in three patients with Schimke immuno-osseous dysplasia who had both T-cell immunodeficiency and renal failure. Each patient received sequential transplants of αβ T-cell-depleted and CD19 B-cell-depleted haploidentical hematopoietic stem cells and a kidney from the same donor. Read More

View Article and Full-Text PDF

Pro and contra: is synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) a spondyloarthritis variant?

Curr Opin Rheumatol 2022 Jul 9;34(4):209-217. Epub 2022 Jun 9.

Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK.

Purpose Of Review: The purpose of this review is to present the up-to-date evidence on the epidemiology, pathogenesis, musculoskeletal manifestations, and imaging of the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome and to discuss its relationship with spondyloarthritis (SpA).

Recent Findings: SAPHO is a rare inflammatory disorder of bone, joints, and skin, with a worldwide distribution that predominantly affects the middle-age adults. The hallmark of the syndrome is a constellation of sterile inflammatory osteitis, hyperostosis, and synovitis involving the anterior chest wall, associated with acneiform and neutrophilic dermatoses, such as palmoplantar pustulosis and severe acne. Read More

View Article and Full-Text PDF

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.

Orphanet J Rare Dis 2022 06 13;17(1):224. Epub 2022 Jun 13.

TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.

Background: Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia and data from phase 3 and phase 2 extension studies showed effects on growth and body proportions. However, there are currently no long-term data available on the direct impact on endpoints such as medical complications and health-related quality of life (HRQoL). Read More

View Article and Full-Text PDF

SAPHO Syndrome Complicated by Ankylosing Spondylitis Successfully Treated With Tofacitinib: A Case Report.

Front Immunol 2022 25;13:911922. Epub 2022 May 25.

Department of Pharmacy, Ningbo No. 6 Hospital, Ningbo, China.

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a type of chronic inflammatory disease, is rare and difficult to treat. Osteoarthropathy with skin involvement is the primary clinical manifestation of SAPHO syndrome. The unknown pathogenesis of SAPHO syndrome is speculated to be related to individual genetic differences, immune levels, microorganisms, and environmental factors. Read More

View Article and Full-Text PDF

Autoimmune Cytopenias Post Hematopoietic Stem Cell Transplantation in Pediatric Patients With Osteopetrosis and Other Nonmalignant Diseases.

Front Immunol 2022 27;13:879994. Epub 2022 May 27.

Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

Autoimmune cytopenia (AIC) is a rare complication post hematopoietic stem cell transplantation (HSCT), with a higher incidence in nonmalignant diseases. The etiology of post-HSCT AIC is poorly understood, and in many cases, the cytopenia is prolonged and refractory to treatment. Diagnosis of post-HSCT AIC may be challenging, and there is no consensus for a standard of care. Read More

View Article and Full-Text PDF

A Novel Mutation c.3392G>T of Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing.

Front Genet 2022 5;13:827560. Epub 2022 Apr 5.

Center of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, Huzhou, China.

Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in . Here, we detected a novel variant c.3392G > T (NM_001844. Read More

View Article and Full-Text PDF

Computer Navigation-Aided Excision of Proximal Femoral Osteochondroma: Surgical Technique.

Comput Math Methods Med 2022 31;2022:7635945. Epub 2022 May 31.

Department of Orthopedic Oncology, Beijing Ji Shui Tan Hospital, No. 31 Xin jie kou Dong Jie, Xi Cheng District, Beijing 100035, China.

Purpose: Symptomatic osteochondroma of the proximal femur necessitates a surgical excision. The purpose of this study was to describe a novel technique of computer navigation-aided excision for osteochondromata of the proximal femur. Outcomes of this technique are also presented. Read More

View Article and Full-Text PDF

The Primary Microglial Leukodystrophies: A Review.

Isidro Ferrer

Int J Mol Sci 2022 Jun 6;23(11). Epub 2022 Jun 6.

Network Centre of Biomedical Research of Neurodegenerative Diseases (CIBERNED), Department of Pathology and Experimental Therapeutics, Bellvitge Biomedical Research Institute (IDIBELL), University of Barcelona, 08907 Barcelona, L'Hospitalet de Llobregat, Spain.

Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic defect linked to microglia causes cerebral white matter damage. Pigmented orthochromatic leukodystrophy, adult-onset orthochromatic leukodystrophy associated with pigmented macrophages, hereditary diffuse leukoencephalopathy with (axonal) spheroids, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) are different terms apparently used to designate the same disease. However, ALSP linked to dominantly inherited mutations in (colony stimulating factor receptor 1) cause CSF-1R-related leukoencephalopathy (CRP). Read More

View Article and Full-Text PDF

Expression pattern and clinical significance of β-catenin gene and protein in patients with primary malignant and benign bone tumors.

Sci Rep 2022 Jun 8;12(1):9488. Epub 2022 Jun 8.

Department of Biochemistry, School of Medicine, Iran University of Medical Sciences, P.O. Box: 1449614535, Tehran, Iran.

This study is aimed to unravel the status of local and circulating β-catenin in different primary bone tumors and its relevance to tumor types, severity, and chemotherapy. The β-catenin mRNA expression level and the expression of the protein (intensity level) were evaluated in tumor tissue and peripheral blood mononuclear cells of 150 patients with different types of primary bone tumors (78 malignant and 72 benign tumors) using Real-Time PCR and immunohistochemistry. The β-catenin mRNA expression level and the expression of the protein were increased in bone tumors which was positively correlated with the tumor malignancy. Read More

View Article and Full-Text PDF

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.

J Appl Oral Sci 2022 6;30:e20220028. Epub 2022 Jun 6.

Chulalongkorn University , Faculty of Medicine , Department of Pediatrics, Medical Genomics Cluster , Center of Excellence for Medical Genomics, Bangkok , Thailand .

Objectives: Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype-phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD. Read More

View Article and Full-Text PDF

Risk of developing spontaneous MRONJ in fibrous dysplasia patients treated with bisphosphonates: a systematic review of the literature.

Quintessence Int 2022 Jun;53(7):616-623

Objective: The objective of this systematic review was to evaluate the risks of medication-related osteonecrosis of the jaw (MRONJ) in fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) patients treated with bisphosphonates.

Method And Materials: A systematic review of the literature was performed by searching PubMed and Embase databases using MeSH terms (fibrous dysplasia of bone, "fibrous dysplasia, polyostotic," osteonecrosis, jaw, therapeutics, diphosphonates, denosumab, teriparatide, estrogens, hormones, raloxifene hydrochloride, calcitonin, cathepsin K) and non-MeSH terms (antiresorptive therapy, antiresorptives, bisphosphonate, estrogen therapy, hormone therapy, bazedoxifene, cathepsin K inhibitor). Articles were limited to human studies, in English language, in which patients were on antiresorptives for at least 1 year. Read More

View Article and Full-Text PDF

Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults.

Adv Ther 2022 Jul 8;39(7):3378-3391. Epub 2022 Jun 8.

BioMarin Pharmaceutical, Inc., 770 Lindaro Street, San Rafael, CA, 94901, USA.

Introduction: Achondroplasia is characterized by disproportionate short stature accompanied by other changes to the musculoskeletal system. Individuals with this condition typically experience a variety of medical complications. As pharmacologic treatments continue to be developed for the treatment of achondroplasia, it is important to understand treatment goals among those affected by achondroplasia and the factors that shape their goals. Read More

View Article and Full-Text PDF

Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.

Sci Rep 2022 Jun 7;12(1):9378. Epub 2022 Jun 7.

Department of Anatomy, Dongguk University College of Medicine, Gyeongju, 38066, Republic of Korea.

Single nucleotide variations in Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) are associated with many neurodegenerative diseases, including Nasu-Hakola disease (NHD), frontotemporal dementia (FTD), and late-onset Alzheimer's disease because they disrupt ligand binding to the extracellular domain of TREM2. However, the effects of nonsynonymous single nucleotide polymorphisms (nsSNPs) in TREM2 on disease progression remain unknown. In this study, we identified several high-risk nsSNPs in the TREM2 gene using various deleterious SNP predicting algorithms and analyzed their destabilizing effects on the ligand recognizing region of the TREM2 immunoglobulin (Ig) domain by molecular dynamics (MD) simulation. Read More

View Article and Full-Text PDF

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Front Immunol 2022 19;13:893000. Epub 2022 May 19.

Hematology Unit, Istituto di Ricerca e Cura a Carattere Scintifico (IRCCS) Istituto Giannina Gaslini, Genoa, Italy.

Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined immunodeficiency in infancy, or slowly progress until fully manifesting in late adolescence/adulthood. No targeted treatment is currently available, and patients are usually managed with supportive measures, or are offered a bone marrow transplant if the clinical phenotype is severe and a suitable donor is available. Read More

View Article and Full-Text PDF

Generation of a non-integrated induced pluripotent stem cell line from urine cells of a Chinese osteogenesis imperfecta type I patient.

Stem Cell Res 2022 Jul 31;62:102827. Epub 2022 May 31.

Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan, Shandong, China; Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan, Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan, Shandong, China. Electronic address:

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized mainly by fractures and bone deformities. It has been established that gene mutations, particularly those in COL1A1 and COL1A2, account for most phenotypes. Here, we generated an induced pluripotent stem cells (iPSCs) line named SMBCi014-A using urine cells (UCs) derived from a 15-year-old female OI type I patient who carried the frame-shift mutation of the COL1A1 gene (exon35:c. Read More

View Article and Full-Text PDF

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

J Immunol Res 2022 19;2022:5068523. Epub 2022 May 19.

Department of Joint Surgery, Center for Orthopedic Surgery, The Third Affiliated Hospital of Southern Medical University, Guangzhou 510515, China.

Background: As a heterogeneous hereditary connective tissue disorder, osteogenesis imperfecta (OI) is clinically characterized by increased fracture susceptibility. Analysis of genetic pathogenic variants in patients with OI provides a basis for genetic counseling and prenatal diagnosis.

Methods: In this study, 14 diagnosed OI patients from sporadic Chinese families were enrolled to be screened for potential mutations from these patients by next-generation sequencing technology. Read More

View Article and Full-Text PDF

Rapidly Growing Solitary Osteochondroma in the Adult Finger A Case Report.

Bull Hosp Jt Dis (2013) 2022 Jun;80(2):171-174

Osteochondromas are common benign bone tumors that are most commonly found in children and adolescents. They are usually slow-growing and located at the metaphysis of the long bones. When present in adults in atypical locations or with concerning features, such as thickened cartilage cap and rapid growth, osteochondromas warrant imaging to assess the risk of malignant transformation into chondrosar- coma and may require surgical excision. Read More

View Article and Full-Text PDF

Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.

J Musculoskelet Neuronal Interact 2022 06;22(2):292-295

Department of Dermatology, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan.

Buschke-Ollendorff syndrome (BOS) is a rare, usually benign, autosomal dominant genetic disease affecting about 0.005% globally. BOS commonly manifests with asymptomatic connective tissue nevi, sometimes with sclerotic bone lesions like osteopoikilosis or melorheostosis. Read More

View Article and Full-Text PDF

Comparative analysis of the gut microbiota composition between knee osteoarthritis and Kashin-Beck disease in Northwest China.

Arthritis Res Ther 2022 May 30;24(1):129. Epub 2022 May 30.

School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, Xi'an, Shaanxi, 710061, People's Republic of China.

Background: Osteoarthritis (OA) and Kashin-Beck disease (KBD) both are two severe osteochondral disorders. In this study, we aimed to compare the gut microbiota structure between OA and KBD patients.

Methods: Fecal samples collected from OA and KBD patients were used to characterize the gut microbiota using 16S rDNA gene sequencing. Read More

View Article and Full-Text PDF