32,262 results match your criteria Multiple Epiphyseal Dysplasia


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

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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

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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

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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

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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

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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

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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

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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

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The Primary Microglial Leukodystrophies: A Review.

Authors:
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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Whole-body Bone Scan in the Diagnosis and Treatment of SAPHO Syndrome.

J Coll Physicians Surg Pak 2022 Apr;32(4):S64-S66

Department of Nuclear Medicine, Xiangya Hospital, Central South University, Hunan Province, Peoples Republic of China.

Synovitis, acne, pustulosis, hyperostosis, and osteomyelitis (SAPHO) syndrome is rare disease of unknown pathogenesis. Its diagnosis and treatment are difficult. There is no standardised treatment for SAPHO syndrome, and the results of empirical therapy are unpredictable. Read More

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Long-Term Results of Posterior Vertebral Column Resection for Severe Thoracolumbar Kyphosis with Achondroplastic Patients: A Case Series.

Medicina (Kaunas) 2022 Apr 27;58(5). Epub 2022 Apr 27.

Department of Orthopaedic Surgery, Okayama University Hospital, Okayama 700-0914, Japan.

: Thoracolumbar kyphosis is one of the most frequent skeletal manifestations in patients with achondroplasia. Few papers have been published on the surgical treatment of this condition, especially in skeletally mature patients. With this study, we presented a retrospective case series of long-term surgical results for achondroplastic patients with severe thoracolumbar kyphosis. Read More

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Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

Bone 2022 Aug 24;161:116450. Epub 2022 May 24.

Traumatology and Orthopedic Surgery Department, Hospital Alto Deba, Gipuzkoa, Spain.

High bone mass (HBM) disorders are a clinically and genetically heterogeneous subgroup of rare skeletal dysplasias. Here we present a case of a previously unreported familial skeletal dysplasia characterized by HBM and lucent bone lesions that we aimed to clinically characterize and genetically investigate. For phenotyping, we reviewed past clinical records and imaging tests, and performed physical examination (PE), bone densitometry, and mineral panels in affected individuals, including a male proband, his son and daughter, in addition to unaffected controls, including the proband's wife and brother. Read More

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Controlled repositioning and primary osteoplasty as a treatment option for the management of unstable slipped capital femoral epiphysis.

J Pediatr Orthop B 2022 Jul 24;31(4):359-364. Epub 2022 May 24.

Department of Orthoapedics and Spine Surgery, Ganga Hospital, Coimbatore, India.

The ideal management of an unstable slipped capital femoral epiphysis (SCFE) is still controversial. The currently available options are in-situ screw fixation with delayed corrective osteotomy, closed reduction and screw fixation and anatomic reduction by modified Dunn's procedure (MDP). We present the results of our technique of controlled re-positioning (CRP) with primary osteoplasty in which the epiphysis is repositioned to the preacute slip stage and a mini-open osteoplasty is done in the same sitting to avoid later femoro-acetabular impingement. Read More

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Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review.

J Int Med Res 2022 May;50(5):3000605221097369

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

The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients. Although total knee arthroplasty has become a highly efficient surgical technique for osteoarthritis, this procedure remains uncommon in patients with osteogenesis imperfecta. Read More

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Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Stud Health Technol Inform 2022 May;294:844-848

Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, Paris, France.

The wide adoption of Electronic Health Records (EHR) in hospitals provides unique opportunities for high throughput phenotyping of patients. The phenotype extraction from narrative reports can be performed by using either dictionary-based or data-driven methods. We developed a hybrid pipeline using deep learning to enrich the UMLS Metathesaurus for automatic detection of phenotypes from EHRs. Read More

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[The coincidence of benign non-familial infantile seizures type 2 with osteogenesis imperfecta type 1].

Authors:
D V I V A Aysina

Zh Nevrol Psikhiatr Im S S Korsakova 2022 ;122(5):128-131

National Medical Research Center of Children's Health, Moscow, Russia.

A clinical case of a patient with neonatal epilepsy at the age of 5 months, with impaired bone formation, early osteoporosis and frequent limb fractures is described. Panel sequencing confirmed by Sanger sequencing revealed two independent hereditary diseases - osteogenesis imperfect type 1, associated with a mutation in the gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the gene (c. Read More

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Heinrich Ernst Albers-Schönberg, 1865-1921.

Semin Musculoskelet Radiol 2022 Apr 24;26(2):194-196. Epub 2022 May 24.

Radiologische Klinik und Poliklinik, Ludwig-Maximilian-University Hospital, Munich, Germany.

This history page in the series "Leaders in Musculoskeletal Radiology" is dedicated to the memory and achievements of the German physician Heinrich Albers-Schönberg, a pioneer of radiology whose name is connected to the medical eponym Albers-Schönberg's disease, also referred to as osteopetrosis or marble bone disease. Read More

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[Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 May;39(5):526-529

Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Objective: To detect the genetic variant of a child with cleidocranial dysplasia (CCD) and to find out the causation of the illness.

Methods: Gene variant was identified by the second generation targeted sequencing and Sanger sequencing.

Results: The gene sequencing revealed that the RUNX2 gene had c. Read More

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The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis.

BMC Musculoskelet Disord 2022 May 21;23(1):485. Epub 2022 May 21.

Royal National Orthopaedic Hospital, Brockley Hill Stanmore HA7 4LP, Stanmore, England.

Background: Osteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking. Access to therapy services for adults with Osteogenesis Imperfecta is variable. Read More

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Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.

Am J Case Rep 2022 May 18;23:e935526. Epub 2022 May 18.

Division of Pediatric Surgery, Department of Surgery, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.

BACKGROUND Osteogenesis imperfecta is a skeletal disease with a range of phenotypes, depending on the genetic mutation. Individuals with osteogenesis imperfecta type I often have mutations in COL1A genes. This disease can be associated with chest wall deformities such as pectus excavatum, but the number of patients with this presentation is limited, and genetic variants associated with this phenotype have not been reported. Read More

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