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[PMID]: 29415886
[Au] Autor:Nozawa S; Inubushi T; Irie F; Takigami I; Matsumoto K; Shimizu K; Akiyama H; Yamaguchi Y
[Ad] Address:Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
[Ti] Title:Osteoblastic heparan sulfate regulates osteoprotegerin function and bone mass.
[So] Source:JCI Insight;3(3), 2018 Feb 08.
[Is] ISSN:2379-3708
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Bone remodeling is a highly coordinated process involving bone formation and resorption, and imbalance of this process results in osteoporosis. It has long been recognized that long-term heparin therapy often causes osteoporosis, suggesting that heparan sulfate (HS), the physiological counterpart of heparin, is somehow involved in bone mass regulation. The role of endogenous HS in adult bone, however, remains unclear. To determine the role of HS in bone homeostasis, we conditionally ablated Ext1, which encodes an essential glycosyltransferase for HS biosynthesis, in osteoblasts. Resultant conditional mutant mice developed severe osteopenia. Surprisingly, this phenotype is not due to impairment in bone formation but to enhancement of bone resorption. We show that osteoprotegerin (OPG), which is known as a soluble decoy receptor for RANKL, needs to be associated with the osteoblast surface in order to efficiently inhibit RANKL/RANK signaling and that HS serves as a cell surface binding partner for OPG in this context. We also show that bone mineral density is reduced in patients with multiple hereditary exostoses, a genetic bone disorder caused by heterozygous mutations of Ext1, suggesting that the mechanism revealed in this study may be relevant to low bone mass conditions in humans.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  2 / 4274 MEDLINE  
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[PMID]: 29258931
[Au] Autor:Du K; Lou Z; Zhang C; Guo P; Chen L; Wang B; Huang D
[Ad] Address:Department of Orthopedics, the First Affiliated Hospital, Kunming Medical University, Kunming, China.
[Ti] Title:Transpedicular Excision of a Thoracic Intraspinal Osteochondroma in a Patient with Hereditary Multiple Exostoses and Brown-Séquard Syndrome.
[So] Source:World Neurosurg;111:94-98, 2018 Mar.
[Is] ISSN:1878-8769
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Spinal osteochondroma is a rare but recognized cause of myelopathy. Brown-Séquard syndrome is a form of severe myelopathy characterized by a clinical picture of hemisection of the spinal cord. Brown-Séquard syndrome caused by osteochondroma is extremely rare, calling for individualized surgical procedures. CASE DESCRIPTION: We report a 16-year-old girl with hereditary multiple exostoses and a rare case of thoracic osteochondroma causing partial Brown-Séquard syndrome. Customized surgical procedures were designed to avoid iatrogenic spinal cord injury. The patient underwent neural decompression and tumor excision through a transpedicular approach. The surgical procedure consisted of 4 consecutive steps: 1) laminectomy, 2) costotransversectomy and pediculectomy, 3) extracavitary removal of the mass, and 4) pedicular fixation with fusion. Total resection of the tumor was achieved macroscopically without intraoperative spinal cord injury. The postoperative recovery was uneventful, and the patient returned to a normal life without evidence of recurrence at 24-month follow-up. CONCLUSIONS: For patients with hereditary multiple exostosis and new onset of neurologic symptoms, the possibility of a spinal osteochondroma should be considered. In the situation of an intraspinal exostosis protruding from the lateral side, customized surgical procedures with a transpedicular approach may be a valid way to minimize intraoperative neural injury and achieve a satisfactory outcome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:In-Data-Review

  3 / 4274 MEDLINE  
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[PMID]: 29485212
[Au] Autor:Friedenberg SG; Vansteenkiste D; Yost O; Treeful AE; Meurs KM; Tokarz DA; Olby NJ
[Ad] Address:Department of Veterinary Clinical Sciences, University of Minnesota, Saint Paul, Minnesota.
[Ti] Title:A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.
[So] Source:J Vet Intern Med;, 2018 Feb 27.
[Is] ISSN:1939-1676
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: We aimed to identify mutations associated with osteochondromatosis in a litter of American Staffordshire Terrier puppies. HYPOTHESIS: We hypothesized that the associated mutation would be located in a gene that causes osteochondromatosis in humans. ANIMALS: A litter of 9 American Staffordshire puppies, their sire and dam, 3 of 4 grandparents, 26 healthy unrelated American Staffordshire Terriers, and 154 dogs of 27 different breeds. METHODS: Whole genome sequencing was performed on the proband, and variants were compared against polymorphisms derived from 154 additional dogs across 27 breeds, as well as single nucleotide polymorphism database 146. One variant was selected for follow-up sequencing. Parentage and genetic mosaicism were evaluated across the litter. RESULTS: We found 56,301 genetic variants unique to the proband. Eleven variants were located in or near the gene exostosin 2 (EXT2), which is strongly associated with osteochondromatosis in humans. One heterozygous variant (c.969C > A) is predicted to result in a stop codon in exon 5 of the gene. Sanger sequencing identified the identical mutation in all affected offspring. The mutation was absent in the unaffected offspring, both parents, all available grandparents, and 26 healthy unrelated American Staffordshire Terriers. CONCLUSIONS AND CLINICAL IMPORTANCE: These findings represent the first reported mutation associated with osteochondromatosis in dogs. Because this mutation arose de novo, the identical mutation is unlikely to be the cause of osteochondromatosis in other dogs. However, de novo mutations in EXT2 are common in humans with osteochondromatosis, and by extension, it is possible that dogs with osteochondromatosis could be identified by sequencing the entire EXT2 gene.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:Publisher
[do] DOI:10.1111/jvim.15073

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[PMID]: 29252754
[Au] Autor:Kim CH; Kekatpure AL; Kashikar A; Chang JS; Jeong MY; Yoon PW
[Ad] Address:Departments of Orthopedic Surgery (C.-H.K., A.L.K., J.S.C., M.Y.J., and P.W.Y.) and Pathology (A.K.), Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
[Ti] Title:Arthroscopic Excision of a Solitary Acetabular Osteochondroma in an Adult: A Case Report.
[So] Source:JBJS Case Connect;6(4):e101, 2016 Oct-Dec.
[Is] ISSN:2160-3251
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:CASE: A 43-year-old woman presented with localized pain of the right hip 2 months after a trivial trauma. Physical examination revealed a positive Patrick (FABER [Flexion, Abduction, and External Rotation]) test. Radiographs showed a radiopaque lesion at the acetabular fossa, and magnetic resonance imaging revealed a mass with adjacent bone marrow edema. Arthroscopic excision of the lesion was performed; histopathologic examination demonstrated that it was an osteochondroma. CONCLUSION: A solitary intra-articular osteochondroma is a possible cause of localized hip pain. Hip arthroscopy can be a good diagnostic and therapeutic option.
[Mh] MeSH terms primary: Acetabulum/surgery
Arthroscopy/methods
Bone Neoplasms/surgery
Osteochondroma/surgery
[Mh] MeSH terms secundary: Acetabulum/diagnostic imaging
Adult
Bone Neoplasms/diagnostic imaging
Female
Humans
Osteochondroma/diagnostic imaging
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; VIDEO-AUDIO MEDIA
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[Js] Journal subset:IM
[Da] Date of entry for processing:171219
[St] Status:MEDLINE
[do] DOI:10.2106/JBJS.CC.16.00101

  5 / 4274 MEDLINE  
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[PMID]: 29359542
[Au] Autor:Hong SP; Lee JB; Bae CH
[Ad] Address:Department of Cardiology, Daegu Catholic University Medical Center, Daegu, Korea.
[Ti] Title:Heterotopic Ossification of the Xiphoid Process after Abdominal Surgery for Traumatic Hemoperitoneum.
[So] Source:J Korean Med Sci;33(7):e62, 2018 Feb 12.
[Is] ISSN:1598-6357
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:Heterotopic ossification of the xiphoid process is extremely rare, with only three cases previously reported. However, the surgical pathology for postoperative elongation of the xiphoid process after abdominal surgery has not yet been reported. We report a case of the postoperative elongation of the xiphoid process, 8 years after abdominal surgery for traumatic hemoperitoneum in a 53-year-old man. The patient underwent surgical excision of the elongated mass of the xiphoid process. Histopathology revealed multiple exostoses. Heterotopic ossification can occur after surgical trauma to soft or bone tissue. Surgical excision with primary closure is the treatment of choice for symptomatic heterotopic ossification.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1801
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:In-Process
[do] DOI:10.3346/jkms.2018.33.e62

  6 / 4274 MEDLINE  
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[PMID]: 29336398
[Au] Autor:Abdolrazaghi H; Riyahi A; Taghavi M; Farshidmehr P; Mohammadbeigi A
[Ad] Address:Department Hand and Reconstructive Surgery, Sina Hospital, Tehran University of Medical Science, Tehran, Iran.
[Ti] Title:Concomitant neurogenic and vascular thoracic outlet syndrome due to multiple exostoses.
[So] Source:Ann Card Anaesth;21(1):71-73, 2018 Jan-Mar.
[Is] ISSN:0974-5181
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:We report a rare case of multiple hereditary exostosis where patient presented with bilateral base of neck exostoses with concurrent compression of brachial plexus and subclavian artery and vein. The patient was a young 26-year-old woman with chief complaints of pain in the left upper extremity, paresthesia in the left ring and little finger, and weakness in hand movement and grip. On referral, history, physical examination, radiological imaging, and electrodiagnostic tests evaluated the patient. Due to severe pain and disability in performing routine activities, surgical intervention was necessary. In the current case, the patient had thoracic outlet syndrome with concomitant venous, arterial, and neurogenic sub types. Radial pulse returned and pain associated with brachial plexus compression was resolved after the surgery.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1801
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review
[do] DOI:10.4103/aca.ACA_119_17

  7 / 4274 MEDLINE  
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[PMID]: 29409186
[Au] Autor:Montiel V; Alfonso M; Villas C; Valentí A
[Ad] Address:Dpto de COT, Clínica Univeristaria de Navarra, Avda Pio XII 36, 31008 Pamplona, Spain. Electronic address: vmontiel@unav.es.
[Ti] Title:Medial and lateral exostoses of the distal phalanx of the hallux: A potentially painful bunion-like structure. Part 1: Incidence and clinical application.
[So] Source:Foot Ankle Surg;, 2017 Nov 13.
[Is] ISSN:1460-9584
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:BACKGROUND: Exostoses at the base of the distal phalanx of the great toe are usually asymptomatic. The literature has not generally considered them as the origin of a possible problem resulting from a pressure conflict between hallux and shoe (medial aspect) or second toe (lateral aspect) nor a potential complication of surgical correction of hallux valgus deformity. No studies, to our knowledge, have evaluated its possible correlation with other foot disorders. When one of these neglected exostoses became painful after surgical correction of hallux valgus, we decided to start a study to determine their possible origin, prevalence in daily practice and histo-pathological morphology. METHODS: Two hundred and fifty-four feet of patients (average age 41.7y.) were enrolled in the study from January 2007 to June 2009. Dorsoplantar weight-bearing radiographs were used to analyze the presence of exostoses and their correlation with the distal phalanx morphology, metatarsal formula (or transverse plane orientation of the metatarsal heads parabola) and hallux valgus angles. Patients were classified according to their age and main symptom for consultation. Four exostoses removed from cadaver feet were also analyzed microscopically. RESULTS: Osseous excrescences arising on the medial or lateral aspect at the proximal part of the terminal phalanx of the hallux were observed in 132 feet (51.9%). Thirty-five feet out of these 132 (13.7%) had exostoses on both sides of the phalanx.A statistically significant positive correlation was found between the presence of a medial exostosis of the phalanx and the severity of HVA. Patients with higher IPH and asymmetry angles have a lower prevalence of medial exostoses (p<0.05). Amongst the different morphologies of the second phalanx, exostoses were most likely found in the standard form. CONCLUSIONS: Prevalence of exostoses at the base of the distal phalanx is high (51.9% of the studied feet). Histological findings would suggest that these exostoses could be considered a mechanical reactive process, produced by a chronic irritation by shoes. We encourage surgeons to be aware of its potential clinical implications. Direct resection is very simple and the most appropriate treatment for symptomatic cases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:Publisher

  8 / 4274 MEDLINE  
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[PMID]: 29277722
[Au] Autor:Pacifici M
[Ad] Address:Translational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States. Electronic address: Pacificim@email.chop.edu.
[Ti] Title:The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.
[So] Source:Matrix Biol;, 2017 Dec 24.
[Is] ISSN:1569-1802
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Heparan sulfate (HS) is an essential component of cell surface and matrix proteoglycans (HS-PGs) that include syndecans and perlecan. Because of their unique structural features, the HS chains are able to specifically interact with signaling proteins -including bone morphogenetic proteins (BMPs)- via their HS-binding domain, regulating protein availability, distribution and action on target cells. Hereditary Multiple Exostoses (HME) is a rare pediatric disorder linked to germline heterozygous loss-of-function mutations in EXT1 or EXT2 that encode Golgi-resident glycosyltransferases responsible for HS synthesis, resulting in a systemic HS deficiency. HME is characterized by cartilaginous/bony tumors -called osteochondromas or exostoses- that form within perichondrium in long bones, ribs and other elements. This review examines most recent studies in HME, framing them in the context of classic studies. New findings show that the spectrum of EXT mutations is larger than previously realized and the clinical complications of HME extend beyond the skeleton. Osteochondroma development requires a somatic "second hit" that would complement the germline EXT mutation to further decrease HS production and/levels at perichondrial sites of osteochondroma induction. Cellular studies have shown that the steep decreases in local HS levels: derange the normal homeostatic signaling pathways keeping perichondrium mesenchymal; cause excessive BMP signaling; and provoke ectopic chondrogenesis and osteochondroma formation. Data from HME mouse models have revealed that systemic treatment with a BMP signaling antagonist markedly reduces osteochondroma formation. In sum, recent studies have provided major new insights into the molecular and cellular pathogenesis of HME and the roles played by HS deficiency. These new insights have led to the first ever proof-of-principle demonstration that osteochondroma formation is a druggable process, paving the way toward the creation of a clinically-relevant treatment.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180123
[Lr] Last revision date:180123
[St] Status:Publisher

  9 / 4274 MEDLINE  
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[PMID]: 29232394
[Au] Autor:Trinkaus E; Wu XJ
[Ad] Address:Department of Anthropology, Washington University, Saint Louis, MO, United States of America.
[Ti] Title:External auditory exostoses in the Xuchang and Xujiayao human remains: Patterns and implications among eastern Eurasian Middle and Late Pleistocene crania.
[So] Source:PLoS One;12(12):e0189390, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:In the context of Middle and Late Pleistocene eastern Eurasian human crania, the external auditory exostoses (EAE) of the late archaic Xuchang 1 and 2 and the Xujiayao 15 early Late Pleistocene human temporal bones are described. Xujiayao 15 has small EAE (Grade 1), Xuchang 1 presents bilateral medium EAE (Grade 2), and Xuchang 2 exhibits bilaterally large EAE (Grade 3), especially on the right side. These cranial remains join the other eastern Eurasian later Pleistocene humans in providing frequencies of 61% (N = 18) and 58% (N = 12) respectively for archaic and early modern human samples. These values are near the upper limits of recent human frequencies, and they imply frequent aquatic exposure among these Pleistocene humans. In addition, the medial extents of the Xuchang 1 and 2 EAE would have impinged on their tympanic membranes, and the large EAE of Xuchang 2 would have resulted in cerumen impaction. Both effects would have produced conductive hearing loss, a serious impairment in a Pleistocene foraging context.
[Mh] MeSH terms primary: Exostoses/pathology
Fossils
Skull/anatomy & histology
[Mh] MeSH terms secundary: Asia
Europe
History, Ancient
Humans
[Pt] Publication type:HISTORICAL ARTICLE; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180104
[Lr] Last revision date:180104
[Js] Journal subset:IM
[Da] Date of entry for processing:171213
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0189390

  10 / 4274 MEDLINE  
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[PMID]: 28468609
[Au] Autor:Smaili W; Elalaoui SC; Meier S; Zerkaoui M; Sefiani A; Heinimann K
[Ad] Address:Centre de Génomique Humaine - Faculté de Médecine et de Pharmacie, Université Mohamed V, Rabat, Morocco.
[Ti] Title:A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
[So] Source:BMC Med Genet;18(1):50, 2017 05 03.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation. CASE PRESENTATION: We report the first case of a Moroccan family, a father and his three children, in which the diagnosis of type III TRPS was suspected based on severe clinical and radiological features. Molecular analysis of the TRPS1 gene revealed a novel missense mutation in exon 6, (p.Ala932Ser), located in the GATA-type DNA-binding zinc finger domain. CONCLUSION: Our observations in this kindred support the previous genotype-phenotype results suggesting that patients with more pronounced facial characteristics and more severe shortening of hands and feet are more likely to have mutation in exon 6 of TRPS1.
[Mh] MeSH terms primary: DNA-Binding Proteins/genetics
Fingers/abnormalities
Hair Diseases/genetics
Langer-Giedion Syndrome/genetics
Nose/abnormalities
Transcription Factors/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Female
Humans
Male
Morocco
Pedigree
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (DNA-Binding Proteins); 0 (TRPS1 protein, human); 0 (Transcription Factors)
[Em] Entry month:1706
[Cu] Class update date: 171231
[Lr] Last revision date:171231
[Js] Journal subset:IM
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0413-8


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