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[PMID]:28592489
[Au] Autor:Zanotti S; Yu J; Sanjay A; Schilling L; Schoenherr C; Economides AN; Canalis E
[Ad] Endereço:From the Departments of Orthopaedic Surgery and.
[Ti] Título:Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome.
[So] Source:J Biol Chem;292(29):12232-12244, 2017 Jul 21.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Individuals with Hajdu-Cheney syndrome (HCS) present with osteoporosis, and HCS is associated with mutations causing deletions of the proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain that are predicted to enhance NOTCH2 stability and cause gain-of-function. Previously, we demonstrated that mice harboring mutations analogous to those in HCS ( ) are severely osteopenic because of enhanced bone resorption. We attributed this phenotype to osteoclastic sensitization to the receptor activator of nuclear factor-κB ligand and increased osteoblastic tumor necrosis factor superfamily member 11 ( ) expression. Here, to determine the individual contributions of osteoclasts and osteoblasts to HCS osteopenia, we created a conditional-by-inversion ( ) model in which Cre recombination generates a allele expressing a Notch2 mutant lacking the PEST domain. Germ line inversion phenocopied the mutant, validating the model. To activate Notch2 in osteoclasts or osteoblasts, mice were bred with mice expressing Cre from the or the promoter, respectively. These crosses created experimental mice harboring a allele in Cre-expressing cells and control littermates expressing a wild-type transcript. inversion in -expressing cells had no skeletal consequences and did not affect the capacity of bone marrow macrophages to form osteoclasts In contrast, inversion in osteoblasts led to generalized osteopenia associated with enhanced bone resorption in the cancellous bone compartment and with suppressed endocortical mineral apposition rate. Accordingly, activation in osteoblast-enriched cultures from mice induced expression. In conclusion, introduction of the HCS mutation in osteoblasts, but not in osteoclasts, causes osteopenia.
[Mh] Termos MeSH primário: Doenças Ósseas Metabólicas/etiologia
Síndrome de Hajdu-Cheney/fisiopatologia
Mutação
Osteoblastos/metabolismo
Receptor Notch2/genética
Transdução de Sinais
[Mh] Termos MeSH secundário: Alelos
Animais
Células da Medula Óssea/imunologia
Células da Medula Óssea/metabolismo
Células da Medula Óssea/patologia
Células Cultivadas
Cruzamentos Genéticos
Feminino
Deleção de Genes
Síndrome de Hajdu-Cheney/imunologia
Síndrome de Hajdu-Cheney/metabolismo
Síndrome de Hajdu-Cheney/patologia
Seres Humanos
Macrófagos/imunologia
Macrófagos/metabolismo
Macrófagos/patologia
Masculino
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Osteoblastos/patologia
Osteoclastos/metabolismo
Osteoclastos/patologia
Domínios e Motivos de Interação entre Proteínas
Receptor Notch2/metabolismo
Regulação para Cima
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; VALIDATION STUDIES
[Nm] Nome de substância:
0 (NOTCH2 protein, human); 0 (Notch2 protein, mouse); 0 (Receptor, Notch2)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170808
[Lr] Data última revisão:
170808
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M117.786129


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[PMID]:28512196
[Au] Autor:Masek J; Andersson ER
[Ad] Endereço:Karolinska Institutet, Huddinge 14183, Sweden.
[Ti] Título:The developmental biology of genetic Notch disorders.
[So] Source:Development;144(10):1743-1763, 2017 05 15.
[Is] ISSN:1477-9129
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome. Furthermore, structure-abrogating mutations in result in CADASIL. Here, we discuss these human congenital disorders in the context of known roles for Notch signaling during development. Drawing on recent analyses by the exome aggregation consortium (EXAC) and on recent studies of Notch signaling in model organisms, we further highlight additional Notch receptors or ligands that are likely to be involved in human genetic diseases.
[Mh] Termos MeSH primário: Doenças Genéticas Inatas/embriologia
Doenças Genéticas Inatas/genética
Receptores Notch/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/embriologia
Anormalidades Múltiplas/genética
Síndrome de Alagille/embriologia
Síndrome de Alagille/genética
Animais
Biologia do Desenvolvimento
Displasia Ectodérmica/embriologia
Displasia Ectodérmica/genética
Síndrome de Hajdu-Cheney/embriologia
Síndrome de Hajdu-Cheney/genética
Hérnia Diafragmática/embriologia
Hérnia Diafragmática/genética
Seres Humanos
Deformidades Congênitas dos Membros/embriologia
Deformidades Congênitas dos Membros/genética
Meningocele/embriologia
Meningocele/genética
Dermatoses do Couro Cabeludo/congênito
Dermatoses do Couro Cabeludo/embriologia
Dermatoses do Couro Cabeludo/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Receptors, Notch)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170518
[St] Status:MEDLINE
[do] DOI:10.1242/dev.148007


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[PMID]:28323963
[Au] Autor:Canalis E; Sanjay A; Yu J; Zanotti S
[Ad] Endereço:Departments of Orthopaedic Surgery, UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.
[Ti] Título:An Antibody to Notch2 Reverses the Osteopenic Phenotype of Hajdu-Cheney Mutant Male Mice.
[So] Source:Endocrinology;158(4):730-742, 2017 04 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Notch receptors play a central role in skeletal development and bone remodeling. Hajdu-Cheney syndrome (HCS), a disease characterized by osteoporosis and fractures, is associated with gain-of-NOTCH2 function mutations. To study HCS, we created a mouse model harboring a point 6955C>T mutation in the Notch2 locus upstream of the proline, glutamic acid, serine, and threonine domain, leading to a Q2319X change at the amino acid level. Notch2Q2319X heterozygous mutants exhibited cancellous and cortical bone osteopenia. Microcomputed tomography demonstrated that the cancellous and cortical osteopenic phenotype was reversed by the administration of antibodies generated against the negative regulatory region (NRR) of Notch2, previously shown to neutralize Notch2 activity. Bone histomorphometry revealed that anti-Notch2 NRR antibodies decreased the osteoclast number and eroded surface in cancellous bone of Notch2Q2319X mice. An increase in osteoclasts on the endocortical surface of Notch2Q2319X mice was not observed in the presence of anti-Notch2 NRR antibodies. The anti-Notch2 NRR antibody decreased the induction of Notch target genes and Tnfsf11 messenger RNA levels in bone extracts and osteoblasts from Notch2Q2319X mice. In vitro experiments demonstrated increased osteoclastogenesis in Notch2Q2319X mutants in response to macrophage colony-stimulating factor and receptor activator of nuclear factor-κB ligand, and these effects were suppressed by the anti-Notch2 NRR. In conclusion, Notch2Q2319X mice exhibit cancellous and cortical bone osteopenia that can be corrected by the administration of anti-Notch2 NRR antibodies.
[Mh] Termos MeSH primário: Anticorpos/uso terapêutico
Doenças Ósseas Metabólicas/tratamento farmacológico
Remodelação Óssea/efeitos dos fármacos
Osso Esponjoso/diagnóstico por imagem
Síndrome de Hajdu-Cheney/tratamento farmacológico
Receptor Notch2/imunologia
[Mh] Termos MeSH secundário: Animais
Anticorpos/farmacologia
Doenças Ósseas Metabólicas/genética
Doenças Ósseas Metabólicas/imunologia
Remodelação Óssea/imunologia
Osso Esponjoso/efeitos dos fármacos
Osso Esponjoso/imunologia
Modelos Animais de Doenças
Fêmur/diagnóstico por imagem
Fêmur/efeitos dos fármacos
Fêmur/imunologia
Síndrome de Hajdu-Cheney/genética
Síndrome de Hajdu-Cheney/imunologia
Masculino
Camundongos
Resultado do Tratamento
Microtomografia por Raio-X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies); 0 (Receptor, Notch2)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1787


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[PMID]:28093525
[Au] Autor:Cuevas VD; Anta L; Samaniego R; Orta-Zavalza E; Vladimir de la Rosa J; Baujat G; Domínguez-Soto Á; Sánchez-Mateos P; Escribese MM; Castrillo A; Cormier-Daire V; Vega MA; Corbí ÁL
[Ad] Endereço:Laboratorio de Células Mieloides, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, 28040 Madrid, Spain.
[Ti] Título:MAFB Determines Human Macrophage Anti-Inflammatory Polarization: Relevance for the Pathogenic Mechanisms Operating in Multicentric Carpotarsal Osteolysis.
[So] Source:J Immunol;198(5):2070-2081, 2017 Mar 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Macrophage phenotypic and functional heterogeneity derives from tissue-specific transcriptional signatures shaped by the local microenvironment. Most studies addressing the molecular basis for macrophage heterogeneity have focused on murine cells, whereas the factors controlling the functional specialization of human macrophages are less known. M-CSF drives the generation of human monocyte-derived macrophages with a potent anti-inflammatory activity upon stimulation. We now report that knockdown of MAFB impairs the acquisition of the anti-inflammatory profile of human macrophages, identify the MAFB-dependent gene signature in human macrophages and illustrate the coexpression of MAFB and MAFB-target genes in CD163 tissue-resident and tumor-associated macrophages. The contribution of MAFB to the homeostatic/anti-inflammatory macrophage profile is further supported by the skewed polarization of monocyte-derived macrophages from multicentric carpotarsal osteolysis (Online Mendelian Inheritance in Man #166300), a pathology caused by mutations in the gene. Our results demonstrate that MAFB critically determines the acquisition of the anti-inflammatory transcriptional and functional profiles of human macrophages.
[Mh] Termos MeSH primário: Diferenciação Celular
Síndrome de Hajdu-Cheney/imunologia
Macrófagos/fisiologia
Fator de Transcrição MafB/metabolismo
Monócitos/fisiologia
[Mh] Termos MeSH secundário: Animais
Anti-Inflamatórios
Antígenos CD/metabolismo
Antígenos de Diferenciação Mielomonocítica/metabolismo
Diferenciação Celular/genética
Células Cultivadas
Microambiente Celular
Citocinas/metabolismo
Técnicas de Silenciamento de Genes
Ontologia Genética
Síndrome de Hajdu-Cheney/genética
Homeostase
Seres Humanos
Fator Estimulador de Colônias de Macrófagos/metabolismo
Fator de Transcrição MafB/genética
Camundongos
Mutação/genética
Receptores de Superfície Celular/metabolismo
Células Th2/imunologia
Transcriptoma
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents); 0 (Antigens, CD); 0 (Antigens, Differentiation, Myelomonocytic); 0 (CD163 antigen); 0 (Cytokines); 0 (MAFB protein, human); 0 (MafB Transcription Factor); 0 (Receptors, Cell Surface); 81627-83-0 (Macrophage Colony-Stimulating Factor)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170118
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1601667


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[PMID]:27796661
[Au] Autor:Botou A; Bangeas A; Alexiou I; Sakkas LI
[Ad] Endereço:Department of Rheumatology and Clinical Immunology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, 41 110, Larissa, Greece.
[Ti] Título:Acro-osteolysis.
[So] Source:Clin Rheumatol;36(1):9-14, 2017 Jan.
[Is] ISSN:1434-9949
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal digital ischemia, digital calcinosis, or severe sensory neuropathy. Acro-osteolysis has been associated with a heterogeneous group of disorders, including occupational activities, infections, rheumatic disorders (systemic sclerosis, psoriatic arthritis), endocrinopathies, genetic disorders, and lysosomal storage disorders. Plain radiography is the gold standard for the detection of acro-osteolysis.
[Mh] Termos MeSH primário: Osteólise/diagnóstico por imagem
Reumatologia/métodos
[Mh] Termos MeSH secundário: Acro-Osteólise/diagnóstico por imagem
Falanges dos Dedos da Mão/diagnóstico por imagem
Dedos/diagnóstico por imagem
Síndrome de Hajdu-Cheney/diagnóstico por imagem
Mãos/diagnóstico por imagem
Seres Humanos
Hiperparatireoidismo/diagnóstico por imagem
Isquemia/diagnóstico por imagem
Hanseníase/diagnóstico por imagem
Hanseníase/genética
Doenças por Armazenamento dos Lisossomos/diagnóstico por imagem
Mutação
Doenças Reumáticas/diagnóstico por imagem
Escleroderma Sistêmico/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161101
[St] Status:MEDLINE
[do] DOI:10.1007/s10067-016-3459-7


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[PMID]:27488012
[Au] Autor:Amalnath SD; Babu V
[Ad] Endereço:Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry 605 006, India.
[Ti] Título:Hajdu-Cheney syndrome - a rare cause of micrognathia.
[So] Source:Indian J Med Res;143(5):663-4, 2016 May.
[Is] ISSN:0971-5916
[Cp] País de publicação:India
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome de Hajdu-Cheney/fisiopatologia
Micrognatismo/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Síndrome de Hajdu-Cheney/diagnóstico
Síndrome de Hajdu-Cheney/diagnóstico por imagem
Seres Humanos
Masculino
Micrognatismo/diagnóstico
Micrognatismo/diagnóstico por imagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160805
[St] Status:MEDLINE
[do] DOI:10.4103/0971-5916.187117


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[PMID]:27312922
[Au] Autor:Battelino N; Writzl K; Bratanic N; Irving MD; Novljan G
[Ad] Endereço:Department of Pediatric Nephrology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
[Ti] Título:End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
[So] Source:Ther Apher Dial;20(3):318-21, 2016 Jun.
[Is] ISSN:1744-9987
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. We present an 8-year-old Caucasian boy, born with multiple dysmorphic features consistent with HJCYS. Imaging of the urinary tract revealed bilateral cystic dysplastic kidneys with associated vesicoureteral reflux. Renal function has been impaired since birth and deteriorated progressively to end-stage renal disease (ESRD) by the age of two and a half years, when peritoneal dialysis was initiated and only recently renal transplantation was performed. Additional congenital abnormalities and multisystem involvement in HJCYS further complicated management, and he developed refractory anemia. Molecular diagnosis was confirmed by identification of a truncating mutation in exon 34 of NOTCH2. Although, renal abnormalities are considered an integral part of the HJCYS, published reports on ESRD are scarce. In those few published cases, where ESRD was recognized, renal failure developed either in late adolescence or adulthood. This is the first report of early ESRD occurring in a child. Patients with HJCYS may need chronic renal replacement therapy even in early childhood. The management of these children can be challenging given the multisystemic manifestations of HJCYS.
[Mh] Termos MeSH primário: Síndrome de Hajdu-Cheney/fisiopatologia
Falência Renal Crônica/etiologia
Receptor Notch2/genética
[Mh] Termos MeSH secundário: Criança
Progressão da Doença
Éxons
Síndrome de Hajdu-Cheney/diagnóstico
Síndrome de Hajdu-Cheney/genética
Seres Humanos
Falência Renal Crônica/diagnóstico
Falência Renal Crônica/genética
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NOTCH2 protein, human); 0 (Receptor, Notch2)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160618
[St] Status:MEDLINE
[do] DOI:10.1111/1744-9987.12444


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[PMID]:26627824
[Au] Autor:Canalis E; Schilling L; Yee SP; Lee SK; Zanotti S
[Ad] Endereço:From the Departments of Orthopaedic Surgery, Medicine, canalis@uchc.edu.
[Ti] Título:Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption.
[So] Source:J Biol Chem;291(4):1538-51, 2016 Jan 22.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Notch receptors are determinants of cell fate and function and play a central role in skeletal development and bone remodeling. Hajdu Cheney syndrome, a disease characterized by osteoporosis and fractures, is associated with NOTCH2 mutations resulting in a truncated stable protein and gain-of-function. We created a mouse model reproducing the Hajdu Cheney syndrome by introducing a 6955C→T mutation in the Notch2 locus leading to a Q2319X change at the amino acid level. Notch2(Q2319X) heterozygous mutants were smaller and had shorter femurs than controls; and at 1 month of age they exhibited cancellous and cortical bone osteopenia. As the mice matured, cancellous bone volume was restored partially in male but not female mice, whereas cortical osteopenia persisted in both sexes. Cancellous bone histomorphometry revealed an increased number of osteoclasts and bone resorption, without a decrease in osteoblast number or bone formation. Osteoblast differentiation and function were not affected in Notch2(Q2319X) cells. The pre-osteoclast cell pool, osteoclast differentiation, and bone resorption in response to receptor activator of nuclear factor κB ligand in vitro were increased in Notch2(Q2319X) mutants. These effects were suppressed by the γ-secretase inhibitor LY450139. In conclusion, Notch2(Q2319X) mice exhibit cancellous and cortical bone osteopenia, enhanced osteoclastogenesis, and increased bone resorption.
[Mh] Termos MeSH primário: Doenças Ósseas Metabólicas/fisiopatologia
Reabsorção Óssea
Diferenciação Celular
Modelos Animais de Doenças
Síndrome de Hajdu-Cheney/genética
Osteoclastos/citologia
Receptor Notch2/genética
[Mh] Termos MeSH secundário: Animais
Doenças Ósseas Metabólicas/genética
Doenças Ósseas Metabólicas/metabolismo
Feminino
Fêmur/crescimento & desenvolvimento
Fêmur/metabolismo
Síndrome de Hajdu-Cheney/metabolismo
Síndrome de Hajdu-Cheney/fisiopatologia
Seres Humanos
Masculino
Camundongos
Mutação de Sentido Incorreto
Osteoclastos/metabolismo
Osteogênese
Mutação Puntual
Receptor Notch2/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Notch2 protein, mouse); 0 (Receptor, Notch2)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151203
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M115.685453


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[PMID]:26400009
[Au] Autor:Damian LO; Simon SP; Filipescu I; Bocsa C; Botar-Jid C; Rednic S
[Ad] Endereço:Rheumatology Department, Emergency Clinical County Hospital Cluj, 3-5 Clinicilor Street, 400006, Cluj-Napoca, Romania. lauradamiancj@yahoo.com.
[Ti] Título:Capillaroscopic findings in a case of Hajdu-Cheney syndrome.
[So] Source:Osteoporos Int;27(3):1269-1273, 2016 Mar.
[Is] ISSN:1433-2965
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hajdu-Cheney syndrome (HCS) is a rare disease which causes osteoporosis, digit shortening, and early tooth loss. In a young HCS female patient, the nailfold capillaroscopy showed reduced capillary height and reduced density in all affected fingers. Capillaroscopy could improve follow-up and therapy assessment in HCS. Hajdu-Cheney syndrome (HCS) is a very rare connective tissue disease characterized by osteoporosis, early dentition loss and a particular phenotype as a result of enhanced NOTCH2 signaling. The pathogenesis of bone resorption and osteoporosis is not fully understood. The altered angiogenesis may play a role in acroosteolysis. We performed capillaroscopy in order to assess the microvascular involvement in a 21-year-old female patient with sporadic HCS. The patient presented with severe parodontopathy, acroosteolysis, and clubbing of four fingers and three toes. Hand radiographs showed periarticular osteoporosis and asymmetric bony involvement with acral resorption and/or transversal lucency bands in several fingers. Early collagen-vascular diseases were ruled out by clinical and ancillary examinations, including immunology and immunoblot for systemic sclerosis. Nailfold capillaroscopy showed reduction of capillary height and density in all affected fingers. Notably, in the fingers with acral resorption, many capillaries were dilated, while in the ones with radiolucency band, capillary dilation was a rare finding. In clinically unaffected fingers, the capillaroscopic findings were normal.To our knowledge, this is the first report of capillaroscopic findings in HCS. The nailfold capillaroscopic aspect reflects the involvement of acral vessels in HCS; thus, capillaroscopy may represent an early diagnostic tool as well as a means of therapeutical assessment. Repeated capillaroscopy in HCS may also add to the understanding of its pathogenesis.
[Mh] Termos MeSH primário: Síndrome de Hajdu-Cheney/diagnóstico
Angioscopia Microscópica/métodos
[Mh] Termos MeSH secundário: Absorciometria de Fóton/métodos
Capilares/patologia
Feminino
Dedos/irrigação sanguínea
Seres Humanos
Osteoporose/diagnóstico por imagem
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150925
[St] Status:MEDLINE
[do] DOI:10.1007/s00198-015-3314-8


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[PMID]:26208937
[Au] Autor:Papavero L
[Ad] Endereço:Klinik für Spinale Chirurgie, Schön Klinik Hamburg Eilbek, Dehnhaide 120, 22081, Hamburg, Germany. LPapavero@schoen-kliniken.de.
[Ti] Título:Expert's comment concerning Grand Rounds case entitled "Surgical challenges in the management of cervical kyphotic deformity in patients with severe osteoporosis: an illustrative case of a patient with Hajdu-Cheney syndrome" (T. A. Mattei, A. A. Rehman, A. Issawi, D. R. Fassett).
[So] Source:Eur Spine J;24(12):2754-5, 2015 Dec.
[Is] ISSN:1432-0932
[Cp] País de publicação:Germany
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome de Hajdu-Cheney/cirurgia
Cifose/cirurgia
Osteoporose/cirurgia
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
[Pt] Tipo de publicação:COMMENT; JOURNAL ARTICLE
[Em] Mês de entrada:1607
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150726
[St] Status:MEDLINE
[do] DOI:10.1007/s00586-015-4115-7



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