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  1 / 4655 MEDLINE  
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[PMID]:29428552
[Au] Autor:De Luna G; Ranque B; Courbebaisse M; Ribeil JA; Khimoud D; Dupeux S; Silvera J; Offredo L; Pouchot J; Arlet JB
[Ad] Dirección:Internal Medicine Department, Sickle Cell Referral Center, Georges Pompidou European Hospital, AP-HP, Paris, France; Faculté de Médecine Paris Descartes, Sorbonne Paris-Cité, Paris, France. Electronic address: gonzalo.deluna@aphp.fr.
[Ti] Título:High bone mineral density in sickle cell disease: Prevalence and characteristics.
[So] Fuente:Bone;110:199-203, 2018 Feb 08.
[Is] ISSN:1873-2763
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:BACKGROUND: Osteosclerosis (OSC) is a rarely studied complication of sickle cell disease (SCD). The objective of our study was to determine the prevalence and characteristics of high bone mineral density (BMD) and its radiological features in adult SCD patients. METHODS: This prospective observational study was conducted from May 2007 to May 2016 in consecutive patients with steady-state SCD at two university hospitals. The BMD of the lumbar spine (L1-L4) and right femoral neck was determined by dual energy X-ray absorptiometry. Clinical, laboratory and radiographic data were recorded. High BMD was defined as a BMD Z-score of at least +2.5 standard deviations at the lumbar spine or hip. The characteristics of the patients with high BMD were compared to those of individuals with low or middle BMD, using multivariate ordinal logistic regression. RESULTS: 135 patients (86 women and 49 men) with a median age of 27 (IQR 23-33) years were included. High BMD was diagnosed in 20 (15%) patients with a median age of 33.5 (IQR 28-45) years. The SCD genotypes of these patients were SS in 11, SC in 5, S/beta+ in 3, and S/beta0 in 1. High BMD patients more frequently harbored the S/beta SCD genotype (21% vs 5% in non-high BMD patients; p=0.047) and were older (p=0.0007). Compared to patients with low or middle BMD, after adjustment for age and SCD genotype, high BMD patients had a higher prevalence of avascular necrosis history (p=0.009), higher BMI (p=0.007), and lower serum resorption marker CTX (p=0.04), bilirubin (p=0.02) and parathyroid hormone levels (p=0.02). There were no differences between groups regarding fracture history, H-shaped vertebrae or other biological variables. CONCLUSION: High-BMD values is a common manifestation in SCD patients, especially in those with the S/beta-thalassemia genotypes. The prevalence of high-BMD in SCD is associated with older age, suggesting that it will be more common in the future because the life span of patients with SCD is increasing thanks to significant progress in SCD treatment.
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1802
[Cu] Fecha actualización por clase:180310
[Lr] Fecha última revisión:180310
[St] Status:Publisher


  2 / 4655 MEDLINE  
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[PMID]:29521762
[Au] Autor:Okuyama K; Yamashiro M; Kaida A; Kawamata A; Mizutani M; Michi Y; Uzawa N; Yano T; Tohyama R; Yamaguchi S
[Ad] Dirección:Department of Clinical Oral Oncology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki.
[Ti] Título:Does a Vascularized Fibula Free Bone Grafted Immediately After Hemimandibulectomy in a Child Grow or Relapse During Adolescence?
[So] Fuente:J Craniofac Surg;, 2018 Mar 08.
[Is] ISSN:1536-3732
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:For young growing children before the end of skeletal maturity, the growth activity of the grafted bone after hemimandibulectomy is not well-known. After an adolescence, such a patient may have facial deformity because the anterior growth point of the mandible is in the condylar neck. A 13-year-old boy was performed hemimandibulectomy with immediate mandibular reconstruction by fibula free flap (FFF) because of a huge ameloblastic fibroma. The authors evaluated the length of FFF on the images of computed tomography (CT) at 5 and 60 months after the operation and compared them by calculating growth rates. Five years after surgery, his facial appearance was symmetry and mandibular function was satisfaction. Although the mandibular bone in the contralateral side grew during 5-year follow-up, the vascularized FFF grafted in the child patient did not significantly grow. Moreover, spontaneous regeneration (SR) and the gradual osteosclerosis were confirmed on the left distal edge of the FFF on the CT imaging. The arrival of SR at the left distal edge of the FFF was considered a part of the reason to compensate the unchanging growth rate of the grafted FFF and contribute for the postoperative good functional and esthetic results.
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[St] Status:Publisher
[do] DOI:10.1097/SCS.0000000000004461


  3 / 4655 MEDLINE  
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[PMID]:29479057
[Au] Autor:Ono T; Sakamoto A; Jono O; Shimizu A
[Ad] Dirección:Department of Orthopedic Surgery, National Hospital Organization, Kokura Medical Center, Kyoto University, Kokura, Fukuoka, Japan.
[Ti] Título:Osteoid Osteoma Can Occur at the Pars Interarticularis of the Lumbar Spine, Leading to Misdiagnosis of Lumbar Spondylolysis.
[So] Fuente:Am J Case Rep;19:207-213, 2018 Feb 26.
[Is] ISSN:1941-5923
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:BACKGROUND Osteoid osteomas are benign bone-forming tumors characterized by local inflammation and pain. They are also characterized by a small osteolytic lesion (nidus). Spondylolysis is a defect of the pars interarticularis, which may lead to stress fractures, and is a common cause of low back pain in adolescence. Osteoid osteoma occurs predominantly in the posterior elements of the spine. Magnetic resonance imaging (MRI) signal abnormality suggesting bone marrow edema is a common finding in osteoid osteoma and early-stage spondylolysis without prominent defect. CASE REPORT An 18-year-old male was suffering from low back pain. He was diagnosed with lumbar spondylolysis on initial MRI and computed tomography (CT). Subsequent thin-slice CT demonstrated a nidus at the pars interarticularis, and variously-sliced MRI could detect widespread bone marrow edema. On the diagnosis of an osteoid osteoma, the nidus and surrounding osteosclerosis were resected. The patient's pain disappeared after surgery. CONCLUSIONS Osteoid osteoma in the pars interarticularis can be difficult to diagnosis, because MRI and CT findings for osteoid osteoma at the pars interarticularis are similar to those of the lumbar spondylolysis. The possibility of osteoid osteoma should be kept in mind when examining adolescents with low back pain.
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1802
[Cu] Fecha actualización por clase:180309
[Lr] Fecha última revisión:180309
[St] Status:In-Process


  4 / 4655 MEDLINE  
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[PMID]:29192651
[Au] Autor:Chapman J; Geyer JT; Khanlari M; Moul A; Casas C; Connor ST; Fan YS; Watts JM; Swords RT; Vega F; Orazi A
[Ad] Dirección:Division of Hematopathology, Department of Pathology, University of Miami/Sylvester Comprehensive Cancer Center, Miami, FL, USA.
[Ti] Título:Myeloid neoplasms with features intermediate between primary myelofibrosis and chronic myelomonocytic leukemia.
[So] Fuente:Mod Pathol;31(3):429-441, 2018 Mar.
[Is] ISSN:1530-0285
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:Monocytosis can develop during disease course in primary myelofibrosis simulating that seen in chronic myelomonocytic leukemia, and should not lead to disease reclassification. In contrast, at presentation, rare cases have clinical, morphologic, and molecular genetic features truly intermediate between primary myelofibrosis and chronic myelomonocytic leukemia. The taxonomy and natural history of these diseases are unclear. We identified cases which either: (1) fulfilled the 2008 World Health Organization criteria for primary myelofibrosis but had absolute monocytosis and, when available, chronic myelomonocytic leukemia-related mutations (ASXL1, SRSF2, TET2) or (2) fulfilled criteria of chronic myelomonocytic leukemia but had megakaryocytic proliferation and atypia, marrow fibrosis, and myeloproliferative-type driver mutations (JAK2, MPL, CALR). Patients with established primary myelofibrosis who developed monocytosis and those with chronic myelomonocytic leukemia with marrow fibrosis were excluded. By combining the pathology databases of two large institutions, six eligible cases were identified. Patients were predominantly male and elderly with monocytosis at diagnosis (average 17.5%/2.3 × 10 /µl), organomegaly, primary myelofibrosis-like atypical megakaryocytes admixed with a variable number of chronic myelomonocytic leukemia-like hypolobated forms, variable myelodysplasia, marrow fibrosis and osteosclerosis. All had a normal karyotype and no myelodysplasia-associated cytogenetic abnormalities. Five of the patients in whom a more extensive molecular characterization was performed showed co-mutations involving JAK2 or MPL and ASXL1, SRSF2, TET2, NRAS, and/or KRAS. Disease progression has occurred in all and two have died. Rare patients present with features that overlap between primary myelofibrosis and chronic myelomonocytic leukemia and are thus difficult to classify based on current World Health Organization criteria. Biologically, these cases likely represent primary myelofibrosis with monocytosis, dysplasia, and secondary (non-driver) mutations at presentation. Alternatively, they may represent a true gray zone of neoplasms. Their clinical behavior appears aggressive and innovative therapeutic approaches may be beneficial in this particular subset.
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1712
[Cu] Fecha actualización por clase:180308
[Lr] Fecha última revisión:180308
[St] Status:In-Data-Review
[do] DOI:10.1038/modpathol.2017.148


  5 / 4655 MEDLINE  
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[PMID]:28460457
[Au] Autor:Trivedi T; Zheng Y; Fournier PGJ; Murthy S; John S; Schillo S; Dunstan CR; Mohammad KS; Zhou H; Seibel MJ; Guise TA
[Ad] Dirección:Bone Research Program, ANZAC Research Institute, University of Sydney, Sydney, Australia.
[Ti] Título:The vitamin D receptor is involved in the regulation of human breast cancer cell growth via a ligand-independent function in cytoplasm.
[So] Fuente:Oncotarget;8(16):26687-26701, 2017 Apr 18.
[Is] ISSN:1949-2553
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:Vitamin D has pleiotropic effects on multiple tissues, including malignant tumors. Vitamin D inhibits breast cancer growth through activation of the vitamin D receptor (VDR) and via classical nuclear signaling pathways. Here, we demonstrate that the VDR can also function in the absence of its ligand to control behaviour of human breast cancer cells both outside and within the bone microenvironment. Stable shRNA expression was used to knock down VDR expression in MCF-7 cells, generating two VDR knockdown clonal lines. In ligand-free culture, knockdown of VDR in MCF-7 cells significantly reduced proliferation and increased apoptosis, suggesting that the VDR plays a ligand-independent role in cancer cell growth. Implantation of these VDR knockdown cells into the mammary fat pad of nude mice resulted in reduced tumor growth in vivo compared with controls. In the intra-tibial xenograft model, VDR knockdown greatly reduced the ability of the cells to form tumors in the bone microenvironment. The in vitro growth of VDR knockdown cells was rescued by the expression of a mutant form of VDR which is unable to translocate to the nucleus and hence accumulates in the cytoplasm. Thus, our data indicate that in the absence of ligand, the VDR promotes breast cancer growth both in vitro and in vivo and that cytoplasmic accumulation of VDR is sufficient to produce this effect in vitro. This new mechanism of VDR action in breast cancer cells contrasts the known anti-proliferative nuclear actions of the VDR-vitamin D ligand complex.
[Mh] Términos MeSH primario: Neoplasias de la Mama/metabolismo
Receptores de Calcitriol/metabolismo
[Mh] Términos MeSH secundario: Animales
Apoptosis/genética
Neoplasias Óseas/genética
Neoplasias Óseas/metabolismo
Neoplasias Óseas/patología
Neoplasias de la Mama/genética
Línea Celular Tumoral
Proliferación Celular
Citoplasma/metabolismo
Modelos Animales de Enfermedad
Femenino
Expresión Génica
Técnicas de Silenciamiento del Gen
Xenoinjertos
Seres Humanos
Ligandos
Ratones
Mutación
Osteosclerosis/genética
Osteosclerosis/metabolismo
Transporte de Proteínas
Receptores de Calcitriol/genética
Vitamina D/metabolismo
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (Ligands); 0 (Receptors, Calcitriol); 0 (VDR protein, human); 1406-16-2 (Vitamin D)
[Em] Mes de ingreso:1803
[Cu] Fecha actualización por clase:180305
[Lr] Fecha última revisión:180305
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:170503
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.15803


  6 / 4655 MEDLINE  
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[PMID]:28456414
[Au] Autor:Besson A; Testart Dardel N; Collet G; Gauthier-Kolesnikov H; Gauthé M
[Ad] Dirección:Centre Oscar Lambret, Médecine Nucléaire, Lille, Francia.
[Ti] Título:Hyperparathyroidism-induced osteosclerosis mimicking diffuse osteo-medullary metastases on F-FDG PET/CT: The role of the «rugger jersey¼ spine sign.
[Ti] Título:Hallazgos F-FDG PET/TC en osteoesclerosis inducida por hiperparatiroidismo sugerentes de metástasis osteomedulares difusas: importancia del signo de la «vértebra en camiseta de jugador de rugby¼..
[So] Fuente:Rev Esp Med Nucl Imagen Mol;37(2):121-122, 2018 Mar - Apr.
[Is] ISSN:2253-8070
[Cp] País de publicación:Spain
[La] Idioma:eng; spa
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1705
[Cu] Fecha actualización por clase:180305
[Lr] Fecha última revisión:180305
[St] Status:In-Data-Review


  7 / 4655 MEDLINE  
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[PMID]:29390266
[Au] Autor:Shi X; Huang C; Xiao F; Liu W; Zeng J; Li X
[Ad] Dirección:Department of Endocrinology and Diabetes.
[Ti] Título:Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.
[So] Fuente:Medicine (Baltimore);96(50):e8730, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK). Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma. PATIENT CONCERNS: A 31-year-old woman presenting a short stature and a palpable nodule in the front of her neck that had gradually increased in size during the last 2 years was referred to our department. She has experienced multiple fractures at lower limbs in the last 2 decades. DIAGNOSES: The patient's clinical examination revealed short stature, underweight, a prominent forehead, stubby fingers, and a fixed nodule in the right thyroid lobe. Intraoral examination revealed multiple clinically malposed and missing teeth, as well as chronic periodontitis with a narrow and grooved palate. Radiographic examination revealed typical widely separated cranial sutures and an open anterior/posterior fontanel with an obtuse gonial angle, acroosteolysis, and osteosclerosis with narrowed medullary cavities. Ultrasonography of the thyroid gland showed a marked hypoechoic solid nodule in the right lobe in which tumor cell clusters were confirmed by ultrasound-guided fine needle aspiration biopsy and was suspected to be MTC. Laboratory tests revealed dramatically elevated serum calcitonin >2000 pg/L (reference range: 0-5 pg/L) and carcinoembryonic antigen (CEA) 134.37 ng/mL (reference range: 0-5 ng/mL). Genotypic screening revealed compound heterozygous mutations in the CTSK gene (c.158delA, P.Asn53Thr/c.C830T, P.Ala277Val) but no mutation associated with the familial forms of MTC. INTERVENTIONS: The patient underwent a total thyroidectomy with right-sided functional neck dissection. OUTCOMES: CEA and serum calcitonin decreased significantly postthyroidectomy, and no further fracture has been reported by the patient so far. LESSONS: The present study is the first to report a rare case of the coexistence of pycnodysostosis with a compound CTSK gene mutation and sporadic MTC. Radiological techniques and gene analysis play key roles in the definitive diagnosis.
[Mh] Términos MeSH primario: Carcinoma Neuroendocrino/complicaciones
Catepsina K/genética
Mutación
Picnodisostosis/genética
Neoplasias de la Tiroides/complicaciones
[Mh] Términos MeSH secundario: Adulto
Carcinoma Neuroendocrino/cirugía
Femenino
Seres Humanos
Disección del Cuello
Picnodisostosis/complicaciones
Neoplasias de la Tiroides/cirugía
Tiroidectomía
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
EC 3.4.22.38 (CTSK protein, human); EC 3.4.22.38 (Cathepsin K)
[Em] Mes de ingreso:1802
[Cu] Fecha actualización por clase:180301
[Lr] Fecha última revisión:180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Fecha de ingreso para procesamiento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008730


  8 / 4655 MEDLINE  
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[PMID]:29341424
[Au] Autor:Tamai K; Tada K; Takeuchi A; Nakamura M; Marunaka H; Washio Y; Tanaka H; Miya F; Okamoto N; Kageyama M
[Ad] Dirección:Department of Neonatology, NHO Okayama Medical Center, Okayama, Japan.
[Ti] Título:Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome.
[So] Fuente:Am J Med Genet A;176(3):682-686, 2018 Mar.
[Is] ISSN:1552-4833
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified. She was subsequently discharged without surgical intervention and is now 2 years old with mild neurodevelopmental delays. Images of cerebral hyperechogenicity by fetal ultrasonography in a non-lethal case were described herein for the first time. This patient represents a rare occurrence of a child with Raine syndrome born to Japanese parents and confirms that this syndrome is not always lethal. Even if Raine syndrome is suspected in a fetus due to cerebral hyperechogenicity and a hypoplastic nose, cerebral hyperechogenicity without pulmonary hypoplasia does not always predict lethality or severe neurodevelopmental delays. The information provided herein will be useful for prenatal counseling.
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1801
[Cu] Fecha actualización por clase:180215
[Lr] Fecha última revisión:180215
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38598


  9 / 4655 MEDLINE  
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[PMID]:29363679
[Au] Autor:Sutter W; Berger S; Meier M; Kropp A; Kielbassa AM; Turhani D
[Ti] Título:Cross-sectional study on the prevalence of carotid artery calcifications, tonsilloliths, calcified submandibular lymph nodes, sialoliths of the submandibular gland, and idiopathic osteosclerosis using digital panoramic radiography in a Lower Austrian subpopulation.
[So] Fuente:Quintessence Int;:231-242, 2018 Jan 22.
[Is] ISSN:1936-7163
[Cp] País de publicación:Germany
[La] Idioma:eng
[Ab] Resumen:OBJECTIVE: Bone and soft tissue calcifications can often be visualized on panoramic radiographs, thus leading to presumptive diagnoses requiring further examinations. This cross-sectional study determined the prevalence of suspected carotid artery calcifications, tonsilloliths, calcified submandibular lymph nodes, sialoliths of the submandibular glands, and idiopathic osteosclerosis in a Lower Austrian subpopulation. METHOD AND MATERIALS: Digital panoramic radiographs (DPR) taken from 1,042 subjects for other clinical purposes between the years 2013 and 2015 were evaluated, using a standardized template. Chi-square tests and Fisher's exact test were used to evaluate the relationship between the detected calcifications and patient age as well as sex. RESULTS: Radiographic data from 490 men and 552 women (mean age of 49.2 [range 21 to 87] years) were analyzed. Two hundred and twenty calcifications were recorded in 198 subjects (19.0%), of which 100 (50.5%) were female. The mean age of participants with calcifications was 55.8 [SD 14.1] years. Radiopaque structures included carotid artery calcifications (5.7%), tonsilloliths (5.7%), calcified submandibular lymph nodes (3.6%), sialoliths of the submandibular gland (0.9%), and idiopathic osteosclerosis (5.3%) as presumptive diagnoses. In total, 196 calcifications (89.1%) were recorded in patients older than 40 years; no gender-dependent relationship could be revealed. Multiple calcification types were detected in 20 patients (11 women, 9 men). CONCLUSIONS: With a prevalence of 19.0% in the study population, calcifications observed on DPR are more spread than previously reported. Thus, with patients of increasing age, DPR should be regarded as an important tool for basic screening of suspicious calcifications necessitating further diagnostic assessments.
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1801
[Cu] Fecha actualización por clase:180124
[Lr] Fecha última revisión:180124
[St] Status:Publisher
[do] DOI:10.3290/j.qi.a39746


  10 / 4655 MEDLINE  
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[PMID]:29359663
[Au] Autor:Chen X; Yu H; Yu X
[Ad] Dirección:Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, 610041. China.
[Ti] Título:A review of the clinical, radiological and biochemical characteristics and genetic causes of high bone mass disorders.
[So] Fuente:Curr Drug Targets;, 2018 Jan 22.
[Is] ISSN:1873-5592
[Cp] País de publicación:Netherlands
[La] Idioma:eng
[Ab] Resumen:BACKGROUND: High bone mass (HBM) disorders are a group of clinically and genetically heterogeneous bone diseases characterized by increased bone density on radiographs, due to progressive bone overgrowth or impaired bone resorption, or both. Some HBM cases are secondary to other diseases, such as chronic hepatitis C virus infection. Despite the great advance in gene diagnostic technology, the majority of HBM individuals remain undiagnosed. OBJECTIVE: In this review, we will summarize the clinical, radiological and biochemical characteristics of HBM cases due to varying etiologies, since these features are helpful in the differential diagnosis of HBM. RESULTS: Each subgroup of HBM cases show distinctive clinical, radiological and biochemical characteristics. HBM due to bone overgrowth was designated as sclerosteosis, as a result of mutations located in genes critically involved in the Wnt/beta-catenin signal pathway. Mutations in genes encoding factors relevant to the differentiation and maturation of osteoclasts, or critical for the acidification and resorption of osteoclasts may lead to osteopetrosis. Hepatitis C associated osteosclerosis is characterized by a generalized increase in bone mass and markedly elevated serum levels of bone specific alkaline phosphatase. CONCLUSION: The clarification of the etiologies of HBM may have a breakthrough role in understanding the molecular mechanisms involved in bone metabolism and may provide new pathways for the intervention of osteoporosis.
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1801
[Cu] Fecha actualización por clase:180123
[Lr] Fecha última revisión:180123
[St] Status:Publisher
[do] DOI:10.2174/1389450119666180122161503



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