Systematic Approach of Sclerotic Bone Lesions Basis on Imaging Findings1 골경화성 병변에 대한 체계적 접근1
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Multiple Hereditary Exostoses Abstract Book, 2005
CONFERENCE ON Multiple Hereditary Exostoses InsightsInsights IntoInto PathogenesisPathogenesis November 3-5, 2005 Shriners Hospital of Houston 6977 Main Street Houston, Texas and the Houston Marriott Medical Center 6580 Fannin Street Houston, Texas Organizers: Dan Wells, Ph.D., Jacqueline Hecht, Ph.D., Sarah Ziegler Sponsored By: The Shriners Hospital The National Institutes of Health American Association of Enchondroma Diseases March of Dimes Birth Defects Foundation The Orthopaedic Research Society The MHE Coalition Gene Dx, DNA Diagnostic Services The Mizutani Foundation for Glycoscience HME: Insights into Pathogenesis. Schedule of Events Thursday November 3, 2005 8:30-9:00 Arrive at Shriners (Coffee and Pastries) 9:00-9:10 Dan Wells, Ph.D. Welcome to conference 9:10-9:30 Jacqueline Hecht, Ph.D. Introduction to genetics and natural history MHE ORTHOPAEDICS AND CLINICAL GENETICS (Christine Alvarez) 9:30-10:10 Christine Alvarez, M.D. Introduction of orthopaedics and defining severity of Hereditary Multiple Exostosis 10:10-10:40 Luca Sangiorgi, M.D., Ph.D. Mutational analysis and clinical expression of disease in patients with HME. 10:40-11:00 BREAK 11:00-11:30 Wim Wuyts, Ph.D. Mutation detection strategies for molecular screening in patients with HME. 11:30-12:00 George Thompson, M.D. Clinical treatments and surgical procedures. 12:00-1:15 LUNCH BONE DEVELOPMENT (Dan Wells) 1:15-1:45 John R. Hassell, Ph.D. FGF binding to percelan isolated from the growth plate. 1:45-2:15 David Ornitz, M.D., Ph.D. FGF that regulate growth plate development. 2:15-2:45 Maurizio Pacifici, M.D., Ph.D. -
Bone and Soft Tissue Tumors Have Been Treated Separately
EPIDEMIOLOGY z Sarcomas are rare tumors compared to other BONE AND SOFT malignancies: 8,700 new sarcomas in 2001, with TISSUE TUMORS 4,400 deaths. z The incidence of sarcomas is around 3-4/100,000. z Slight male predominance (with some subtypes more common in women). z Majority of soft tissue tumors affect older adults, but important sub-groups occur predominantly or exclusively in children. z Incidence of benign soft tissue tumors not known, but Fabrizio Remotti MD probably outnumber malignant tumors 100:1. BONE AND SOFT TISSUE SOFT TISSUE TUMORS TUMORS z Traditionally bone and soft tissue tumors have been treated separately. z This separation will be maintained in the following presentation. z Soft tissue sarcomas will be treated first and the sarcomas of bone will follow. Nowhere in the picture….. DEFINITION Histological z Soft tissue pathology deals with tumors of the classification connective tissues. of soft tissue z The concept of soft tissue is understood broadly to tumors include non-osseous tumors of extremities, trunk wall, retroperitoneum and mediastinum, and head & neck. z Excluded (with a few exceptions) are organ specific tumors. 1 Histological ETIOLOGY classification of soft tissue tumors tumors z Oncogenic viruses introduce new genomic material in the cell, which encode for oncogenic proteins that disrupt the regulation of cellular proliferation. z Two DNA viruses have been linked to soft tissue sarcomas: – Human herpes virus 8 (HHV8) linked to Kaposi’s sarcoma – Epstein-Barr virus (EBV) linked to subtypes of leiomyosarcoma z In both instances the connection between viral infection and sarcoma is more common in immunosuppressed hosts. -
Applications of Chondrocyte-Based Cartilage Engineering: an Overview
Hindawi Publishing Corporation BioMed Research International Volume 2016, Article ID 1879837, 17 pages http://dx.doi.org/10.1155/2016/1879837 Review Article Applications of Chondrocyte-Based Cartilage Engineering: An Overview Abdul-Rehman Phull,1 Seong-Hui Eo,1 Qamar Abbas,1 Madiha Ahmed,2 and Song Ja Kim1 1 Department of Biological Sciences, College of Natural Sciences, Kongju National University, Gongjudaehakro 56, Gongju 32588, Republic of Korea 2Department of Pharmacy, Quaid-i-Azam University, Islamabad 45320, Pakistan Correspondence should be addressed to Song Ja Kim; [email protected] Received 14 May 2016; Revised 24 June 2016; Accepted 26 June 2016 Academic Editor: Magali Cucchiarini Copyright © 2016 Abdul-Rehman Phull et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Chondrocytes are the exclusive cells residing in cartilage and maintain the functionality of cartilage tissue. Series of biocomponents such as different growth factors, cytokines, and transcriptional factors regulate the mesenchymal stem cells (MSCs) differentiation to chondrocytes. The number of chondrocytes and dedifferentiation are the key limitations in subsequent clinical application of the chondrocytes. Different culture methods are being developed to overcome such issues. Using tissue engineering and cell based approaches, chondrocytes offer prominent therapeutic option specifically in orthopedics for cartilage repair and to treat ailments such as tracheal defects, facial reconstruction, and urinary incontinence. Matrix-assisted autologous chondrocyte transplantation/implantation is an improved version of traditional autologous chondrocyte transplantation (ACT) method. An increasing number of studies show the clinical significance of this technique for the chondral lesions treatment. -
Increased Nuchal Translucency Precision Panel
Increased Nuchal Translucency Precision Panel Overview Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy. NT>3.5mm has been found to be associated with fetal chromosomal abnormalities and single-gene disorders as well as cardiac defects and other structural abnormalities in euploid and aneuploid fetuses. Proportionally as NT increases, even with a normal karyotype, there is a higher risk of adverse pregnancy outcomes such as miscarriage, intrauterine death, congenital heart defects and numerous other structural and genetic syndromes. There is not one single cause of increased NT, it is based on a complex and multifactorial process, linked to one or more embryonic processes. It has been shown that a persistently increased NT with a normal karyotype and aCGH has a 4-10% probability of being associated to Noonan Syndrome and/or other RASopathies using Whole Exome Sequencing (WES). However, the general tendency following detection of isolated enlarged NT in an euploid fetus is that most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcomes. The Igenomix Increased Nuchal Translucency Precision Panel can be used to make a directed and accurate prenatal differential diagnosis of increased nuchal translucency in patients with or without a normal karyotype ultimately leading to a better management and prognosis of the associated comorbidities. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. -
Advances in the Pathogenesis and Possible Treatments for Multiple Hereditary Exostoses from the 2016 International MHE Conference
Connective Tissue Research ISSN: 0300-8207 (Print) 1607-8438 (Online) Journal homepage: https://www.tandfonline.com/loi/icts20 Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko To cite this article: Anne Q. Phan, Maurizio Pacifici & Jeffrey D. Esko (2018) Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference, Connective Tissue Research, 59:1, 85-98, DOI: 10.1080/03008207.2017.1394295 To link to this article: https://doi.org/10.1080/03008207.2017.1394295 Published online: 03 Nov 2017. Submit your article to this journal Article views: 323 View related articles View Crossmark data Citing articles: 1 View citing articles Full Terms & Conditions of access and use can be found at https://www.tandfonline.com/action/journalInformation?journalCode=icts20 CONNECTIVE TISSUE RESEARCH 2018, VOL. 59, NO. 1, 85–98 https://doi.org/10.1080/03008207.2017.1394295 PROCEEDINGS Advances in the pathogenesis and possible treatments for multiple hereditary exostoses from the 2016 international MHE conference Anne Q. Phana, Maurizio Pacificib, and Jeffrey D. Eskoa aDepartment of Cellular and Molecular Medicine, Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA, USA; bTranslational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA ABSTRACT KEYWORDS Multiple hereditary exostoses (MHE) is an autosomal dominant disorder that affects about 1 in 50,000 Multiple hereditary children worldwide. MHE, also known as hereditary multiple exostoses (HME) or multiple osteochon- exostoses; multiple dromas (MO), is characterized by cartilage-capped outgrowths called osteochondromas that develop osteochondromas; EXT1; adjacent to the growth plates of skeletal elements in young patients. -
Diagnosis and Treatment of Intramedullary Osteosclerosis
Abe et al. BMC Musculoskeletal Disorders (2020) 21:762 https://doi.org/10.1186/s12891-020-03758-5 CASE REPORT Open Access Diagnosis and treatment of intramedullary osteosclerosis: a report of three cases and literature review Kensaku Abe, Norio Yamamoto, Katsuhiro Hayashi, Akihiko Takeuchi* , Shinji Miwa, Kentaro Igarashi, Takashi Higuchi, Yuta Taniguchi, Hirotaka Yonezawa, Yoshihiro Araki, Sei Morinaga, Yohei Asano and Hiroyuki Tsuchiya Abstract Background: Intramedullary osteosclerosis (IMOS) is a rare condition without specific radiological findings except for the osteosclerotic lesion and is not associated with family history and infection, trauma, or systemic illness. Although the diagnosis of IMOS is confirmed after excluding other osteosclerotic lesions, IMOS is not well known because of its rarity and no specific feature. Therefore, these situations might result in delayed diagnosis. Hence, this case report aimed to investigate three cases of IMOS and discuss imaging findings and clinical outcomes. Case presentation: All three cases were examined between 2015 and 2019. The location of osteosclerotic lesions were femoral diaphyses in the 60-year-old man (Case 1) and 41-year-old woman (Case 2) and tibial diaphysis in the 44-year-old woman (Case 3). All cases complained of severe pain and showed massive diaphyseal osteosclerotic lesions in plain radiograms and computed tomography (CT) scans. Cases 2 and 3 were examined using the triphasic bone scan, and a fusiform-shaped intense area of the tracer uptake on delayed bone image was detected in both cases without (Case 2) or slightly increased vascularity (Case 3) on the blood pool image, which was reported as a specific finding of IMOS. -
Exostoses, Enchondromatosis and Metachondromatosis; Diagnosis and Management
Acta Orthop. Belg., 2016, 82, 102-105 ORIGINAL STUDY Exostoses, enchondromatosis and metachondromatosis; diagnosis and management John MCFARLANE, Tim KNIGHT, Anubha SINHA, Trevor COLE, Nigel KIELY, Rob FREEMAN From the Department of Orthopaedics, Robert Jones Agnes Hunt Hospital, Oswestry, UK We describe a 5 years old girl who presented to the region of long bones and are composed of a carti- multidisciplinary skeletal dysplasia clinic following lage lump outside the bone which may be peduncu- excision of two bony lumps from her fingers. Based on lated or sessile, the knee is the most common clinical examination, radiolographs and histological site (1,10). An isolated exostosis is a common inci- results an initial diagnosis of hereditary multiple dental finding rarely requiring treatment. Disorders exostosis (HME) was made. Four years later she developed further lumps which had the radiological associated with exostoses include HME, Langer- appearance of enchondromas. The appearance of Giedion syndrome, Gardner syndrome and meta- both exostoses and enchondromas suggested a possi- chondromatosis. ble diagnosis of metachondromatosis. Genetic testing Enchondroma are the second most common be- revealed a splice site mutation at the end of exon 11 on nign bone tumour characterised by the formation of the PTPN11 gene, confirming the diagnosis of meta- hyaline cartilage in the medulla of a bone. It occurs chondromatosis. While both single or multiple exosto- most frequently in the hand (60%) and then the feet. ses and enchondromas occur relatively commonly on The typical radiological features are of a well- their own, the appearance of multiple exostoses and defined lucent defect with endosteal scalloping and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis. -
POEMS Syndrome: an Atypical Presentation with Chronic Diarrhoea and Asthenia
European Journal of Case Reports in Internal Medicine POEMS Syndrome: an Atypical Presentation with Chronic Diarrhoea and Asthenia Joana Alves Vaz1, Lilia Frada2, Maria Manuela Soares1, Alberto Mello e Silva1 1 Department of Internal Medicine, Egas Moniz Hospital, Lisbon, Portugal 2 Department of Gynecology and Obstetrics, Espirito Santo Hospital, Evora, Portugal Doi: 10.12890/2019_001241 - European Journal of Case Reports in Internal Medicine - © EFIM 2019 Received: 28/07/2019 Accepted: 13/11/2019 Published: 16/12/2019 How to cite this article: Alves Vaz J, Frada L, Soares MM, Mello e Silva A. POEMS syndrome: an atypical presentation with chronic diarrhoea and astenia. EJCRIM 2019;7: doi:10.12890/2019_001241. Conflicts of Interests: The Authors declare that there are no competing interest This article is licensed under a Commons Attribution Non-Commercial 4.0 License ABSTRACT POEMS syndrome is a rare paraneoplastic condition associated with polyneuropathy, organomegaly, monoclonal gammopathy, endocrine and skin changes. We report a case of a man with Castleman disease and monoclonal gammopathy, with a history of chronic diarrhoea and asthenia. Gastrointestinal involvement in POEMS syndrome is not frequently referred to in the literature and its physiopathology is not fully understood. Diagnostic criteria were met during hospitalization but considering the patient’s overall health condition, therapeutic options were limited. Current treatment for POEMS syndrome depends on the management of the underlying plasma cell disorder. This report outlines the importance of a thorough review of systems and a physical examination to allow an attempted diagnosis and appropriate treatment. LEARNING POINTS • POEMS syndrome should be suspected in the presence of peripheral polyneuropathy associated with monoclonal gammopathy; diagnostic workup is challenging and delay in treatment is very common. -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
The Epiphyseal Plate: Physiology, Anatomy, and Trauma*
3 CE CREDITS CE Article The Epiphyseal Plate: Physiology, Anatomy, and Trauma* ❯❯ Dirsko J. F. von Pfeil, Abstract: This article reviews the development of long bones, the microanatomy and physiology Dr.med.vet, DVM, DACVS, of the growth plate, the closure times and contribution of different growth plates to overall growth, DECVS and the effect of, and prognosis for, traumatic injuries to the growth plate. Details on surgical Veterinary Specialists of Alaska Anchorage, Alaska treatment of growth plate fractures are beyond the scope of this article. ❯❯ Charles E. DeCamp, DVM, MS, DACVS athologic conditions affecting epi foramen. Growth factors and multipotent Michigan State University physeal (growth) plates in imma stem cells support the formation of neo ture animals may result in severe natal bone consisting of a central marrow P 2 orthopedic problems such as limb short cavity surrounded by a thin periosteum. ening, angular limb deformity, or joint The epiphysis is a secondary ossifica incongruity. Understanding growth plate tion center in the hyaline cartilage forming anatomy and physiology enables practic the joint surfaces at the proximal and distal At a Glance ing veterinarians to provide a prognosis ends of the bones. Secondary ossification Bone Formation and assess indications for surgery. Injured centers can appear in the fetus as early Page E1 animals should be closely observed dur as 28 days after conception1 (TABLE 1). Anatomy of the Growth ing the period of rapid growth. Growth of the epiphysis arises from two Plate areas: (1) the vascular reserve zone car Page E2 Bone Formation tilage, which is responsible for growth of Physiology of the Growth Bone is formed by transformation of con the epiphysis toward the joint, and (2) the Plate nective tissue (intramembranous ossifica epiphyseal plate, which is responsible for Page E4 tion) and replacement of a cartilaginous growth in bone length.3 The epiphyseal 1 Growth Plate Closure model (endochondral ossification). -
(Osgood- Schlatter Disease): a Review
Open Access Review Article DOI: 10.7759/cureus.780 Apophysitis of the Tibial Tuberosity (Osgood- Schlatter Disease): A Review Raju Vaishya 1 , Ahmad Tariq Azizi 2 , Amit Kumar Agarwal 1 , Vipul Vijay 1 1. Orthopaedics, Indraprastha Apollo Hospitals 2. Orthoapedics, Herat Regional Hospital, Herat, Afghanistan Corresponding author: Amit Kumar Agarwal, [email protected] Abstract Osgood-Schlatter disease (OSD) is a condition in which the patellar tendon insertion on the tibial tuberosity becomes inflamed. It is a well-known condition in late childhood characterized by pain and a bony prominence over the tibial tuberosity. The pain is usually exacerbated by physical activities like running, jumping, and climbing stairs. In the acute stage, the margins of the patellar tendon become blurred in radiographs due to the soft tissue swelling. After three to four months, bone fragmentation at the tibial tuberosity is viewed. In the sub-acute stage, soft tissue swelling resolves, but the bony ossicle remains. In the chronic stage, the bone fragment may fuse with the tibial tuberosity which can appear normal. The primary goal in the treatment of OSD is the reduction of pain and swelling over the tibial tuberosity. The patient should limit physical activities until the symptoms are resolved. In some cases, the patient should restrict physical activities for several months. The presence of pain with kneeling because of an ossicle that does not respond to conservative measures is the indication for surgery. In these cases, the removal of the ossicle, surrounding bursa, and the bony prominence is the treatment of choice. Categories: Orthopedics Keywords: tibial tuberosity, osgood-schlatter disease, apophysitis Introduction And Background Osgood-Schlatter disease (OSD, also called Lannelongue’s disease) is a condition in which the patellar tendon insertion on the tibial tuberosity becomes inflamed [1-2]. -
Periapical Radiopacities
2016 self-study course two course The Ohio State University College of Dentistry is a recognized provider for ADA CERP credit. ADA CERP is a service of the American Dental Association to assist dental professionals in identifying quality providers of continuing dental education. ADA CERP does not approve or endorse individual courses or instructors, nor does it imply acceptance of credit hours by boards of dentistry. Concerns or complaints about a CE provider may be directed to the provider or to the Commission for Continuing Education Provider Recognition at www.ada.org/cerp. The Ohio State University College of Dentistry is approved by the Ohio State Dental Board as a permanent sponsor of continuing dental education. This continuing education activity has been planned and implemented in accordance with the standards of the ADA Continuing Education Recognition Program (ADA CERP) through joint efforts between The Ohio State University College of Dentistry Office of Continuing Dental Education and the Sterilization Monitoring Service (SMS). ABOUT this COURSE… FREQUENTLY asked QUESTIONS… . READ the MATERIALS. Read and Q: Who can earn FREE CE credits? review the course materials. COMPLETE the TEST. Answer the A: EVERYONE - All dental professionals eight question test. A total of 6/8 in your office may earn free CE questions must be answered correctly credits. Each person must read the contact for credit. course materials and submit an online answer form independently. SUBMIT the ANSWER FORM ONLINE. You MUST submit your answers ONLINE at: Q: What if I did not receive a confirmation ID? us http://dentistry.osu.edu/sms-continuing-education A: Once you have fully completed your .