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1.
J Comput Assist Tomogr ; 43(5): 708-712, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31356523

RESUMO

OBJECTIVE: Meningioma-related skull magnetic resonance imaging findings other than hyperostosis are not widely recognized. We evaluated the novel findings of the skull adjacent to meningiomas. METHODS: Records from patients with meningiomas located adjacent to the skull on magnetic resonance imaging (n = 32) were included. Three skull findings (intramedullary prominent vessel, intramedullary enhancement, intramedullary T2-hyperintensity) and the widely known hyperostosis were retrospectively visually assessed. The frequency of these 3 findings and the relevance to each other, and their relationships with hyperostosis, size, length adjacent to the skull, and relative signal intensity of the meningioma were examined. RESULTS: The incidence of the three findings was 46.88%, 53.13%, and 62.5%, respectively, and that of hyperostosis was 46.88%. Each association involving the findings was strong, and they were significantly related to the size and length. CONCLUSIONS: Intramedullary prominent vessel, intramedullary enhancement, and intramedullary T2-hyperintensity may be novel characteristic skull findings associated with meningioma.


Assuntos
Imagem Tridimensional/métodos , Imagem por Ressonância Magnética/métodos , Neoplasias Meníngeas/diagnóstico por imagem , Meningioma/diagnóstico por imagem , Crânio/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Meios de Contraste , Feminino , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/cirurgia , Interpretação de Imagem Assistida por Computador , Masculino , Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Pessoa de Meia-Idade , Estudos Retrospectivos , Crânio/cirurgia
2.
J Orthop Surg Res ; 14(1): 156, 2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31133027

RESUMO

BACKGROUND: An increased occurrence of cortical hypertrophy (CH) was observed 1-2 years after implanting short curved Fitmore hip stems. There are no published data about either the clinical relevance or the progression of CH over the long term. METHODS: Ninety-six primary total hip arthroplasties were performed between 2008 and 2010 using the Fitmore hip stem. Clinical and radiological parameters were recorded preoperatively and at 1, 2, 3, and 5 year follow-up. RESULTS: CH appeared mainly on antero-posterior radiographs in Gruen Zones 2, 3, 5, and 6. After 1 year, the diameter was 10 ± 2 mm and remained constant thereafter. The CH rate after 1 year was 69% and after 5 years 71%. Subsidence after 1 year was 1.6 ± 1.55 mm and 1.93 ± 1.72 mm after 5 years. Cortical thinning was 46% after 1 year and 56% after 5 years, mainly in Gruen Zones 7 and 8. In the first year radiolucencies were found in 51% in all Gruen Zones, and in 20% after 5 years. Patient, implant, and surgical factors did not correlate with radiological outcomes except that larger stems had more CH. After 5 years, the Harris Hip Score had improved from 59 to 94 and the Oxford Hip Score from 22 to 41. Radiographic parameters, notably CH, were not associated with clinical outcomes except that cortical thinning correlated with lower outcome scores. CONCLUSIONS: CH correlated neither with clinical outcome nor with patient, surgical or implant factors, except for a positive correlation with stem size. The Fitmore hip stems settled within the first year to a stable fixation and then remained almost unchanged. However, cortical thinning is common in Gruen Zone 7 and 8 meaning that there is stress-shielding.


Assuntos
Artroplastia de Quadril/instrumentação , Artroplastia de Quadril/tendências , Osso Cortical/diagnóstico por imagem , Prótese de Quadril/tendências , Hiperostose/diagnóstico por imagem , Desenho de Prótese/tendências , Idoso , Estudos de Coortes , Feminino , Seguimentos , Prótese de Quadril/normas , Humanos , Hiperostose/etiologia , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Desenho de Prótese/normas
3.
World Neurosurg ; 121: 127-130, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30321672

RESUMO

BACKGROUND: Hydrocephalus is an international disease process that is commonly treated surgically with a ventriculoperitoneal shunt. This device may be prone to malfunction, most commonly from obstruction, disconnection, or infection. CASE DESCRIPTION: A 35-year-old female with hydrocephalus and a ventriculoperitoneal shunt presented with altered mental status and imaging concerning for a shunt malfunction. Intraoperatively, she was found to have bone growing over and compressing the proximal occluder of the shunt valve, causing a mechanical obstruction. Removal of the bone allowed for egress of cerebrospinal fluid and return of proper shunt function. The patient did well postoperatively. CONCLUSION: Hydrocephalus, ventriculoperitoneal shunts, and shunt revisions represent a significant health burden and cost. Here we present an unusual cause of a shunt malfunction caused by bony overgrowth.


Assuntos
Falha de Equipamento , Hiperostose/complicações , Complicações Pós-Operatórias , Derivação Ventriculoperitoneal , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/cirurgia , Hiperostose/diagnóstico por imagem , Hiperostose/cirurgia
5.
Bone ; 116: 321-332, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30077757

RESUMO

Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homozygous loss-of-function mutations within the gene SOST that encodes the inhibitor of Wnt-mediated bone formation, sclerostin. SOST2 is transmitted as an autosomal dominant (AD) or AR trait and to date caused by one heterozygous or two homozygous loss-of-function mutation(s), respectively, within the gene LRP4 that encodes the sclerostin interaction protein, low-density lipoprotein receptor-related protein 4 (LRP4). Herein, we investigated two teenagers and one middle-aged man with SOST in three families living in the state of Tamil Nadu in southern India. Next generation sequencing of their genomic DNA using our high bone density gene panel revealed SOST1 in the teenagers caused by a unique homozygous nonsense SOST mutation (c.129C > G, p.Tyr43X) and SOST2 in the man caused by homozygosity for one of the two known homozygous missense LRP4 mutations (c.3508C > T, p.Arg1170Trp). He becomes the fourth individual and the first non-European recognized with SOST2. His clinical course was milder than the life-threatening SOST1 demonstrated by the teenagers who suffered blindness, deafness, and raised intracranial pressure, yet his congenital syndactyly was more striking by featuring bony fusion of digits. All three patients were from consanguineous families and heterozygosity for the SOST mutation was documented in the mothers of both teenagers. Thus, on the endogamous genetic background of Indian Tamils, SOST1 from sclerostin deficiency compared to SOST2 from LRP4 deactivation is a more severe and life-threatening disorder featuring complications due to osteosclerosis of especially the skull. In contrast, the syndactyly of SOST2 is particularly striking by involving bony fusion of some digits. Both the SOST and LRP4 mutations in this ethnic population likely reflect genetic founders.


Assuntos
Hiperostose/patologia , Sindactilia/patologia , Adolescente , Sequência de Bases , Proteínas Morfogenéticas Ósseas/genética , Osso e Ossos/metabolismo , Análise Mutacional de DNA , Família , Feminino , Marcadores Genéticos/genética , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/genética , Índia , Proteínas Relacionadas a Receptor de LDL/genética , Masculino , Pessoa de Meia-Idade , Minerais/metabolismo , Linhagem , Sindactilia/diagnóstico por imagem , Sindactilia/genética
6.
JCI Insight ; 3(11)2018 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-29875318

RESUMO

The WNT pathway has become an attractive target for skeletal therapies. High-bone-mass phenotypes in patients with loss-of-function mutations in the LRP5/6 inhibitor Sost (sclerosteosis), or in its downstream enhancer region (van Buchem disease), highlight the utility of targeting Sost/sclerostin to improve bone properties. Sclerostin-neutralizing antibody is highly osteoanabolic in animal models and in human clinical trials, but antibody-based inhibition of another potent LRP5/6 antagonist, Dkk1, is largely inefficacious for building bone in the unperturbed adult skeleton. Here, we show that conditional deletion of Dkk1 from bone also has negligible effects on bone mass. Dkk1 inhibition increases Sost expression, suggesting a potential compensatory mechanism that might explain why Dkk1 suppression lacks anabolic action. To test this concept, we deleted Sost from osteocytes in, or administered sclerostin neutralizing antibody to, mice with a Dkk1-deficient skeleton. A robust anabolic response to Dkk1 deletion was manifest only when Sost/sclerostin was impaired. Whole-body DXA scans, µCT measurements of the femur and spine, histomorphometric measures of femoral bone formation rates, and biomechanical properties of whole bones confirmed the anabolic potential of Dkk1 inhibition in the absence of sclerostin. Further, combined administration of sclerostin and Dkk1 antibody in WT mice produced a synergistic effect on bone gain that greatly exceeded individual or additive effects of the therapies, confirming the therapeutic potential of inhibiting multiple WNT antagonists for skeletal health. In conclusion, the osteoanabolic effects of Dkk1 inhibition can be realized if sclerostin upregulation is prevented. Anabolic therapies for patients with low bone mass might benefit from a strategy that accounts for the compensatory milieu of WNT inhibitors in bone tissue.


Assuntos
Anabolizantes/administração & dosagem , Glicoproteínas/antagonistas & inibidores , Hiperostose/tratamento farmacológico , Osteogênese/efeitos dos fármacos , Sindactilia/tratamento farmacológico , Via de Sinalização Wnt/efeitos dos fármacos , Animais , Anticorpos Neutralizantes/administração & dosagem , Proteínas Morfogenéticas Ósseas/genética , Modelos Animais de Doenças , Feminino , Fêmur/citologia , Fêmur/diagnóstico por imagem , Fêmur/patologia , Marcadores Genéticos/genética , Glicoproteínas/genética , Glicoproteínas/metabolismo , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/genética , Hiperostose/patologia , Peptídeos e Proteínas de Sinalização Intercelular/genética , Mutação com Perda de Função , Masculino , Camundongos , Osteócitos , Coluna Vertebral/citologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Sindactilia/diagnóstico por imagem , Sindactilia/genética , Sindactilia/patologia , Resultado do Tratamento , Regulação para Cima/efeitos dos fármacos , Microtomografia por Raio-X
8.
World Neurosurg ; 115: e774-e781, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29729471

RESUMO

BACKGROUND: Several hypotheses have been proposed regarding the mechanisms underlying meningioma-related hyperostosis. In this study, we investigated the role of osteoprotegerin (OPG), insulin-like growth factor 1 (IGF-1), endothelin 1 (ET-1), and bone morphogenetic protein (BMP) 2 and 4. METHODS: A total of 149 patients (39 males and 110 females; mean age, 62 years) who underwent surgery were included. Depending on the relationship with the bone, meningiomas were classified as hyperostotic, osteolytic, infiltrative, or unrelated. Expression of OPG, and IGF-1, ET-1, BMP-2, and BMP-4 was evaluated by tissue microarray analysis of surgical samples. RESULTS: Our series comprised 132 cases of grade I, 14 cases of grade II, and 3 cases of grade III meningiomas, according to the World Health Organization classification. Based on preoperative computed tomography scan, the cases were classified as follows: hyperostotic, n = 11; osteolytic, n = 11; infiltrative, n = 15; unrelated to the bone, n = 108. Four cases were excluded from the statistical analysis. Using receiver operating characteristic curve analysis, we identified a 2% cutoff for the mean value of IGF-1 that discriminated between osteolytic and osteoblastic lesions; cases with a mean IGF-1 expression of <2% were classified as osteolytic (P = 0.0046), whereas those with a mean OPG expression of <10% were classified as osteolytic (P = 0.048). No other significant relationships were found. CONCLUSIONS: Expression of OPG and expression of IGF-1 were found to be associated with the development of hyperostosis. Preliminary findings suggest that hyperostosis can be caused by an overexpression of osteogenic molecules that influence osteoblast/osteoclast activity. Based on our results, further studies on hyperostotic bony tissue in meningiomas are needed to better understand how meningiomas influence bone overproduction.


Assuntos
Proteínas Morfogenéticas Ósseas/biossíntese , Hiperostose/metabolismo , Fator de Crescimento Insulin-Like I/biossíntese , Neoplasias Meníngeas/metabolismo , Meningioma/metabolismo , Osteoprotegerina/biossíntese , Biomarcadores/metabolismo , Proteína Morfogenética Óssea 2/biossíntese , Proteína Morfogenética Óssea 2/genética , Proteínas Morfogenéticas Ósseas/genética , Endotelina-1/biossíntese , Endotelina-1/genética , Feminino , Expressão Gênica , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/genética , Fator de Crescimento Insulin-Like I/genética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/genética , Meningioma/diagnóstico por imagem , Meningioma/genética , Pessoa de Meia-Idade , Osteoprotegerina/genética
9.
Rinsho Shinkeigaku ; 58(5): 332-334, 2018 May 25.
Artigo em Japonês | MEDLINE | ID: mdl-29710019

RESUMO

A 77-year-old woman with Parkinson's disease presented with left chest pain. Physical examination revealed tenderness at her second left sternocostal joint. There was no skin rash. Chest CT revealed hyperostosis of the sternocostal joint, and cervical MRI showed vertebral osteosclerosis and osteolysis. 99mTc-MDP bone scintigraphy showed an increased activity in the sternocostal joint and vertebral column. The patient was diagnosed with SAHPO syndrome according to the diagnostic criteria. Her chest pain was relieved after oral administration of nonsteroidal anti-inflammatory drugs. Although pain is a common non-motor symptom of Parkinson's disease, chest pain is relatively rare, according to a previous reports. When patients with Parkinson's disease complain of chest pain, physicians should make an appropriate differential diagnosis after excluding emergent cardiovascular disease. To the best of our knowledge, this is the first report of Parkinson's disease associated with SAPHO syndrome. The relationship between the two diseases is unclear. However, peripheral inflammation is known to exacerbate ongoing neuronal damage in neurodegenerative diseases, such as Parkinson's disease. Therefore, systemic inflammation of SAPHO syndrome may affect the disease course of Parkinson's disease.


Assuntos
Síndrome de Hiperostose Adquirida/complicações , Síndrome de Hiperostose Adquirida/diagnóstico por imagem , Doença de Parkinson/complicações , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Idoso , Anti-Inflamatórios não Esteroides/uso terapêutico , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Dor no Peito/tratamento farmacológico , Dor no Peito/etiologia , Diagnóstico Diferencial , Progressão da Doença , Feminino , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/etiologia , Imagem por Ressonância Magnética , Osteosclerose/diagnóstico por imagem , Osteosclerose/etiologia , Cintilografia , Tomografia Computadorizada por Raios X
10.
Indian J Dent Res ; 28(2): 169-174, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28611327

RESUMO

BACKGROUND: Temporomandibular joint (TMJ) ankylosis is a situation in which the mandibular condyle is fused to the glenoid fossa by bone or fibrous tissue. The management of TMJ ankylosis has a complicated chore, and it is challenging for the maxillofacial surgeon because of technical hitches and high rate of reankylosis. Costochondral graft (CCG) is a common treatment modality for TMJ ankylosis. One of disadvantages of CCG is unpredictability of growth pattern and risk of overgrowth. This report illustrates the fate of CCG used in the TMJ reconstruction and also the management of patients with CCG overgrowth. MATERIALS AND METHODS: A retrospective evaluation of 14 patients presented with unilateral TMJ ankylosis reconstructed using CCG treated in our hospital from 2000 to 2013 was done. Only patients with unilateral ankylosis treated by CCG with at least 2-year follow-up and complete case records with clinical and radiographic details were included in the study. Patients with bilateral ankylosis, reankylosis, missing details, and the patients with <2-year follow-up were excluded from the study. The patients were selected based on the specified inclusion/exclusion criteria. All the patients were analyzed clinically and radiographically. Facial appearance, jaw motion, occlusion, contour, and linear growth changes were documented preoperatively, immediately postoperatively, and long term (>2 years). RESULTS: Totally 14 unilateral temporomandibular ankylosis cases were reconstructed using CCG from the period of 2000-2013. The mean age of the patients is 5.2 years with the standard deviation of 1.48 ranging from 3 to 9 years. Follow-up of the patients ranges from 2 to 6 years with mean follow-up of 3 years. Out of 14 patients, 2 patients had normal growth of CCG after the mean follow-up of 3 years, whereas 5 patients presented with moderate growth, 4 patients with CCG overgrowth, and 3 patients presented with no growth of CCG following surgery. Overgrown CCG was treated with condylar shaving, and orthodontic elastic was maintained to stabilize the occlusion. Moderately grown and nongrowing CCG was treated by internal distractor for the management of facial symmetry. Facial asymmetry and malocclusion were successfully corrected in all patients with altered growth pattern. CONCLUSION: The growth pattern of the CCG is extremely unpredictable, which can be in the form of no growth at all or excessive growth, and mandibular overgrowth on the grafted site can actually be more troublesome than the lack of growth. Care should also be taken to ensure proper postoperative functional therapy and to examine the role of cartilage thickness on future growth in young patients.


Assuntos
Anquilose/cirurgia , Cartilagem/transplante , Hiperostose/etiologia , Reconstrução Mandibular/métodos , Complicações Pós-Operatórias/etiologia , Transtornos da Articulação Temporomandibular/cirurgia , Anquilose/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Hiperostose/diagnóstico por imagem , Masculino , Complicações Pós-Operatórias/diagnóstico por imagem , Estudos Retrospectivos , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Resultado do Tratamento
11.
Am J Phys Anthropol ; 164(1): 76-96, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28594081

RESUMO

OBJECTIVES: Porotic hyperostosis (PH), characterized by porotic lesions on the cranial vault, and cribra orbitalia (CO), a localized appearance of porotic lesions on the roof of the orbits, are relatively common osteological conditions. Their etiology has been the focus of several studies, and an association with anemia has long been suggested. Anemia often causes bone marrow hypertrophy or hyperplasia, leading to the expansion in trabecular or cranial diploic bone as a result of increased hematopoiesis. Hypertrophy and/or hyperplasia is often coupled with a disruption of the remodeling process of outer cortical bone, cranially and/or postcranially, leading to the externally visible porotic lesions reported in osteological remains. In this article, we investigate whether individuals with CO have increased thickness of the diploë, the common morphological direct effect of increased hematopoiesis, and thus test the relationship between the two conditions, as well as explore the type of anemia that underlie it. METHODS: An analysis of medical CT scans of a worldwide sample of 98 complete, young to middle-aged adult dry skulls from the Duckworth Collection was conducted on male and female cribrotic individuals (n = 23) and noncribrotic individuals (n = 75), all of whom lacked any evidence of porotic lesions on the vault. Measurements of total and partial cranial thickness were obtained by virtual landmark placement, using the Amira 5.4 software; all analyses were conducted in IBM SPSS 21. RESULTS: Cribriotic individuals have significantly thinner diploic bone and thicker outer and inner tables than noncribriotic individuals, contrary to the expected diploic expansion that would result from anemic conditions associated to bone marrow hypertrophy or hyperplasia. Additionally, individuals without CO and those with the condition have distinctive cranial thickness at particular locations across the skull and the severity to which CO is expressed also differentiates between those with mild and those with a moderate to severe form of the condition. CONCLUSIONS: Our results suggest a complex pattern of causality in relation to the pathologies that may lead to the formation of porotic lesions on the vault and the roof of the orbits. A form of anemia may be behind the osteological changes observed in PH and CO, but it is unlikely to be the same type of anemic condition that underlies both types of osteological lesions. We suggest that CO may be associated to anemias that lead to diploic bone hypocellularity and hypoplasia, such as those caused by anemia of chronic disease and, to a lesser extent, of renal failure, aplastic anemia, protein deficiency, and anemia of endocrine disorders, and not those that lead to bone marrow hypercellularity and hyperplasia and potential PH. This leads us to the conclusion that the terms PH and CO should be used to reflect different underlying conditions.


Assuntos
Hiperostose , Órbita/patologia , Crânio/patologia , Adulto , Anemia , Antropologia Física , Feminino , Humanos , Hiperostose/complicações , Hiperostose/diagnóstico por imagem , Hiperostose/patologia , Masculino , Pessoa de Meia-Idade , Órbita/diagnóstico por imagem , Escorbuto , Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios X
12.
World Neurosurg ; 102: 555-560, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28137547

RESUMO

OBJECTIVE AND IMPORTANCE: Camurati-Engelmann disease (CED) is a rare, autosomal-dominant genetic disorder resulting in hyperostosis of the long bones and skull. Patients often develop cranial nerve dysfunction and increased intracranial pressure secondary to stenosis of nerve foramina and hyperostosis. Surgical decompression may provide symptomatic relief in select patients; however, a small number of reports document the recurrence of symptoms due to bony regrowth. We present a patient who had been treated previously with bilateral frontal and parietal craniotomy who experienced recurrence of symptoms due to reossification of her cranial bones. This report underscores the progressive nature of CED and its influence on surgical management. Furthermore, we propose a novel surgical approach with multiple craniectomies and titanium mesh cranioplasties that could potentially offer long-term symptomatic relief. CLINICAL PRESENTATION: A 46-year-old female patient with CED who was treated with ventriculoperitoneal shunting, posterior fossa decompression, and multiple craniotomies 2 decades prior presented with signs and symptoms of increased intracranial pressure. Studies of the skull at presentation demonstrated rethickening of cranial bones that resulted in severely decreased intracranial volume. INTERVENTION: A radical craniectomy, requiring 4 separate bone flaps made up of bilateral frontal and parietal bones, was performed. The remaining coronal and sagittal bony struts were drilled to approximately 1 cm thick. Cranioplasties with 4 separate titanium meshes were performed to preserve the natural contour of the patient's skull. CONCLUSIONS: Although surgical decompression could provide some patients with CED symptomatic relief, clinicians should consider managing CED as a chronic condition. To the authors' knowledge, this is one of few case reports documenting the recurrence of symptoms in a patient with CED treated by surgical intervention. Furthermore, we propose that multiple craniectomies with titanium mesh cranioplasties confer more permanent symptomatic control, and, more importantly, lower the risk of recurrence secondary to cranial hyperostosis.


Assuntos
Síndrome de Camurati-Engelmann/cirurgia , Hiperostose/fisiopatologia , Crânio/crescimento & desenvolvimento , Síndrome de Camurati-Engelmann/diagnóstico por imagem , Síndrome de Camurati-Engelmann/fisiopatologia , Craniotomia/métodos , Descompressão Cirúrgica/métodos , Feminino , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/etiologia , Pessoa de Meia-Idade , Cuidados Pós-Operatórios/métodos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/fisiopatologia , Retalhos Cirúrgicos , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Derivação Ventriculoperitoneal/métodos
14.
Bone ; 96: 51-62, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-27742500

RESUMO

Sclerosteosis and van Buchem disease are two rare bone sclerosing dysplasias caused by genetic defects in the synthesis of sclerostin. In this article we review the demographic, clinical, biochemical, radiological, and histological characteristics of patients with sclerosteosis and van Buchem disease that led to a better understanding of the role of sclerostin in bone metabolism in humans and we discuss the relevance of these findings for the development of new therapeutics for the treatment of patients with osteoporosis.


Assuntos
Proteínas Morfogenéticas Ósseas/deficiência , Biomarcadores/metabolismo , Densidade Óssea , Osso e Ossos/patologia , Osso e Ossos/fisiopatologia , Marcadores Genéticos , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/patologia , Hiperostose/fisiopatologia , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Osteocondrodisplasias/fisiopatologia , Sindactilia/diagnóstico por imagem , Sindactilia/patologia , Sindactilia/fisiopatologia
15.
J Assoc Physicians India ; 64(5): 69-71S, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-27735155

RESUMO

Proteus syndrome is an extremely rare disorder with a documentation of only 100 cases world over till date. This sporadic disorder involves the skeletal system, central nervous system, eyes, skin, soft tissues and vascular system. We report a case of Proteus syndrome in a 22 year male presenting with abnormally enlarged and hypertrophied feet resulting in marked physical constraints.


Assuntos
Doenças do Pé/complicações , Hiperostose/diagnóstico por imagem , Perna (Membro)/diagnóstico por imagem , Síndrome de Proteu/diagnóstico , Humanos , Masculino , Adulto Jovem
16.
Clin Genet ; 89(2): 205-9, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26283468

RESUMO

Sclerosteosis, characterized by the hyperostosis of cranial and tubular bones, is a rare autosomal recessive hereditary disorder caused by mutation of SOST gene. Four nonsense mutations of SOST have been identified worldwide. Here, we report two affected siblings who carried a novel nonsense mutation of SOST in a consanguineous family from China. The proband manifested typical symptoms of sclerosteosis, whereas the symptoms were absent in another affected sibling. Two nucleotide substitutions in exon 2 of SOST were identified, c.444_445TC>AA, resulting in a premature stop codon, p.Cys148→Stop. This truncated mutation loses 66 amino acid residues which contain 3 cysteine residues of the cysteine-knot motif, leading to loss of function of SOST. The symptoms of sclerosteosis may be clinically heterogeneous in some patients, even with the same mutation. Our results support the notion that founder effects from the ancestors contribute to the disease onset.


Assuntos
Proteínas Morfogenéticas Ósseas/genética , Códon sem Sentido/genética , Consanguinidade , Marcadores Genéticos/genética , Hiperostose/genética , Mutação/genética , Sindactilia/genética , Adulto , Sequência de Bases , Família , Feminino , Homozigoto , Humanos , Hiperostose/diagnóstico por imagem , Recém-Nascido , Masculino , Dados de Sequência Molecular , Linhagem , Radiografia , Sindactilia/diagnóstico por imagem , Adulto Jovem
18.
Biomed Res Int ; 2015: 517815, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25984533

RESUMO

Sclerosteosis is a rare autosomal recessive condition characterized by increased bone density. Mutations in SOST gene coding for sclerostin are linked to sclerosteosis. Two Egyptian brothers with sclerosteosis and their apparently normal consanguineous parents were included in this study. Clinical evaluation and genomic sequencing of the SOST gene were performed followed by in silico analysis of the resulting variation. A novel homozygous frameshift mutation in the SOST gene, characterized as one nucleotide cytosine insertion that led to premature stop codon and loss of functional sclerostin, was identified in the two affected brothers. Their parents were heterozygous for the same mutation. To our knowledge this is the first Egyptian study of sclerosteosis and SOST gene causing mutation.


Assuntos
Proteínas Morfogenéticas Ósseas/genética , Marcadores Genéticos/genética , Hiperostose/genética , Mutação/genética , Sindactilia/genética , Adolescente , Adulto , Sequência de Aminoácidos , Sequência de Bases , Proteínas Morfogenéticas Ósseas/química , Criança , Análise Mutacional de DNA , Egito , Família , Feminino , Humanos , Hiperostose/diagnóstico por imagem , Masculino , Modelos Genéticos , Dados de Sequência Molecular , Proteínas Mutantes/química , Proteínas Mutantes/metabolismo , Linhagem , Radiografia , Sindactilia/diagnóstico por imagem
19.
Pediatr Radiol ; 45(8): 1239-43, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25835322

RESUMO

We report a 4-year-old boy with sclerosteosis associated with severe digital dysostosis. The initial medical consultation was prompted by bilateral, asymmetrical syndactyly of the index and middle fingers. The left index finger had complicated phalangeal anomalies: hyperphalangy (supernumerary phalanx distal to the middle phalanx) and hypoplasia with bracket epiphyses of the proximal and middle phalanges. Development of facial nerve palsy, hearing impairment and generalized osteosclerosis had occurred between 3 years and 4 years of age, with the subsequent identification of a homozygous SOST mutation. Bilateral second and third fingers syndactyly associated with abnormal patterning of the same fingers should be considered prodromal signs of sclerosteosis.


Assuntos
Dedos/anormalidades , Dedos/diagnóstico por imagem , Deformidades Congênitas da Mão/diagnóstico por imagem , Hiperostose/diagnóstico por imagem , Sindactilia/diagnóstico por imagem , Pré-Escolar , Deformidades Congênitas da Mão/complicações , Humanos , Hiperostose/complicações , Masculino , Radiografia , Sindactilia/complicações
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