Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 2.891
Filtrar
1.
PLoS One ; 15(9): e0239450, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32970714

RESUMO

BACKGROUND: Bone abnormality and leg disease in commercial broiler flocks are increasingly prominent, causing serious economic losses to the broiler breeding industry. Valgus-varus deformity (VVD) is a common deformity of the long bone in broilers that manifests as an outward or inward deviation of the tibiotarsus or tarsometatarsus. There is a paucity of studies on the molecular mechanisms of VVD. RESULTS: In this study, 6 cDNA libraries were constructed from spleen samples from VVD birds and normal birds. A total of 1951 annotated lncRNAs, 7943 novel lncRNAs and 30252 mRNAs were identified by RNA-sequencing. In addition, 420 differentially expressed (DE) mRNAs and 124 differentially expressed lncRNAs (adjusted P-value < 0.05) were obtained. A total of 16 dysregulated genes were confirmed by qPCR to be consistent with the results of the RNA-Seq. The functional lncRNA-mRNA co-expression network was constructed using differentially expressed mRNAs and target genes of the differentially expressed lncRNAs. 11 DE genes were obtained from the analysis. In order to gain insight into the interactions of genes, lncRNAs and pathways associated with VVD, we focused on the following pathways, which are involved in immunity and bone development: the Jak-stat signaling pathway, Toll-like receptor signaling pathway, Wnt-signaling pathway, mTOR signaling pathway, VEGF signaling pathway, Notch signaling pathway, TGF-beta signaling pathway and Fanconi anemia pathway. All together, 30 candidate DE genes were obtained from these pathways. We then analyzed the interaction between the DE genes and their corresponding lncRNAs. From these interaction network analyses we found that GARS, NFIC, PIK3R1, BMP6, NOTCH1, ACTB and CREBBP were the key core nodes of these networks. CONCLUSION: This study showed that differentially expressed genes and signaling pathways were related to immunity or bone development. These results increase the understanding of the molecular mechanisms of VVD and provide some reference for the etiology and pathogenesis of VVD.


Assuntos
Doenças Ósseas/genética , Doenças das Aves Domésticas/genética , RNA Longo não Codificante/metabolismo , RNA Mensageiro/metabolismo , Animais , Desenvolvimento Ósseo/genética , Doenças Ósseas/patologia , Galinhas/genética , Cromossomos/genética , Análise por Conglomerados , Regulação para Baixo , Biblioteca Gênica , Redes Reguladoras de Genes , Doenças das Aves Domésticas/patologia , RNA Longo não Codificante/química , RNA Mensageiro/química , Análise de Sequência de RNA , Baço/metabolismo , Transcriptoma , Regulação para Cima
2.
AJR Am J Roentgenol ; 215(3): 523-533, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32755186

RESUMO

OBJECTIVE. The purpose of this article is to provide a step-by-step guide for bone imaging-guided percutaneous core needle biopsy, including the armamentarium available and the most recent advances. CONCLUSION. Bone imaging-guided percutaneous core needle biopsies are well-established, minimally invasive, cost-effective interventions for histologic characterization of bone lesions with an excellent safety profile and diagnostic outcomes; they play a crucial role in management of patients. Radiologists involved in the care of patients with bone lesions must be familiar with the various steps involved in such procedures and their role in patient management.


Assuntos
Biópsia com Agulha de Grande Calibre/métodos , Doenças Ósseas/patologia , Biópsia Guiada por Imagem/métodos , Radiografia Intervencionista/métodos , Humanos
3.
AJR Am J Roentgenol ; 215(2): 458-464, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32507014

RESUMO

OBJECTIVE. The purpose of this study is to assess the use of cross-sectional imaging to qualitatively and quantitatively categorize trochlear dysplasia as low grade (type A) or high grade (types B-D) according to the Dejour classification. MATERIALS AND METHODS. A retrospective review of CT and MRI knee examinations performed before patients underwent deepening trochleoplasty was independently conducted by two musculoskeletal radiologists. Each case of trochlear dysplasia was qualitatively assigned a Dejour type. Subsequently, quantitative measurements of the sulcus angle, distance from the tibial tubercle to the trochlear groove, trochlear depth, lateral trochlear inclination, trochlear facet asymmetry, and degree of patellar lateralization were performed. RESULTS. A total of 35 patients (29 female patients and six male patients; mean age, 21.1 years) with 39 affected knees (17 right knees and 22 left knees) were included. Readers had exact qualitative agreement using Dejour classification for 30 of 39 knees (77% [κ = 0.77; 95% CI, 0.62-0.91]) and agreement on classification of low-grade versus high-grade dysplasia for 36 of 39 knees (92%). For these 36 knees, the mean differences in measurements of low- versus high-grade dysplasia, respectively, were as follows: for sulcus angle, 153° versus 168° (p < 0.001); for trochlear depth, 4 versus 1 mm (p < 0.001); for lateral trochlear inclination, 12 versus 7 mm (p < 0.02); and for decreased trochlear facet asymmetry, 13% versus 92% (p < 0.001). Trochlear depth, lateral trochlear inclination, and trochlear facet asymmetry were also different in comparisons of knees with Dejour type B and C trochlear dysplasia versus those with Dejour types B and D (all p < 0.05). No quantitative measurement differentiated between trochlear dysplasia of Dejour types C and D. The distance from the tibial tubercle to the trochlear groove and the degree of patellar lateralization were not statistically different between low- and high-grade dysplasia. CONCLUSION. Qualitative use of the Dejour classification accurately categorizes trochlear dysplasia as low grade or high grade in 92% of cases, with exact agreement reached in 77% of cases. Furthermore, the trochlear depth, lateral trochlear inclination, trochlear facet asymmetry, and sulcus angle can differentiate between low-grade and high-grade dysplasia, with trochlear depth, lateral trochlear inclination, and trochlear facet asymmetry useful for differentiating between Dejour types B and C and Dejour types B and D.


Assuntos
Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/patologia , Fêmur/diagnóstico por imagem , Fêmur/patologia , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/patologia , Imagem por Ressonância Magnética , Patela/diagnóstico por imagem , Patela/patologia , Tomografia Computadorizada por Raios X , Adolescente , Feminino , Humanos , Masculino , Estudos Retrospectivos , Adulto Jovem
4.
World Neurosurg ; 139: 253-259, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32305608

RESUMO

BACKGROUND: Sarcoidosis is a granulomatous disease most often affecting the lungs, but extrapulmonary manifestations are also common. While virtually any organ system can be involved, skeletal manifestations are present in 1%-13% of cases. Skull lesions are even more rare. We found 14 case reports describing symptomatic skull lesions in patients with no prior history of sarcoid to better understand the symptomology and disease progression. CASE DESCRIPTION: Here we present the case of a 57-year-old female with history of sarcoidosis and new-onset forgetfulness, confusion, and headaches who was found to have multiple skull lesions with epidural extension. On histopathologic examination of the excised lesion, noncaseating granulomas were observed and diagnoses of skull sarcoidosis and neurosarcoid were made. Since the patient was actively treated with corticosteroids, the plan was to initiate infliximab. CONCLUSION: Sarcoidosis affecting the skull and central nervous system is exceedingly rare and can mimic many pathologies including metastatic bone disease, multiple myeloma, and eosinophilic granulomatosis. With a wide differential, surgical specimen is needed for concrete diagnosis and treatment. While the rates of skeletal involvement are low, a skeletal survey might be an important step in monitoring disease burden in patients, especially as lesions can be asymptomatic.


Assuntos
Doenças Ósseas/patologia , Doenças do Sistema Nervoso Central/patologia , Sarcoidose/patologia , Crânio/patologia , Feminino , Granuloma/patologia , Humanos , Pessoa de Meia-Idade
5.
World Neurosurg ; 139: 387-394, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32339731

RESUMO

BACKGROUND: Lesions of the skull make up a small but important part of neurosurgical practice. Several systemic disorders may involve the cranial vault including neoplastic and non-neoplastic conditions. Sarcoidosis of the skull is a little-known cause of calvarial involvement that has been rarely reported in the literature. The available information about skull sarcoidosis (SS) is sparse and is not well described; for this reason, we consider that a detailed description of this uncommon condition is necessary. METHODS: An illustrative case of SS is presented; in addition, a PubMed and Scopus search adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was performed to include studies reporting patients with SS. Different information was analyzed in these cases to describe the characteristics of this condition. Also, different sources of literature were analyzed to complete the description of this clinical entity. RESULTS: The search yielded 22 cases of patients with SS showing a variety of clinical manifestations. All studies were case reports. Most patients diagnosed with SS had no previous history of systemic sarcoidosis. Different characteristics of SS are analyzed and described in this paper. CONCLUSIONS: The information collected from this review shows that SS is a rare condition that frequently is observed in patients without previous diagnosis of sarcoidosis. SS may manifest in different ways, and even may be found incidentally in some patients. The diagnosis of SS should be considered when multiple lytic skull lesions are observed, especially in cases of patients without a previous history of malignancy.


Assuntos
Doenças Ósseas/patologia , Sarcoidose/patologia , Crânio/patologia , Feminino , Humanos , Pessoa de Meia-Idade
6.
Tissue Cell ; 63: 101326, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32223953

RESUMO

OBJECTIVES: We aim to develop a 3D-bilayer collagen (COL) membrane reinforced with nano beta-tricalcium-phosphate (nß-TCP) particles and to evaluate its bone regeneration in combination with leukocyte-platelet-rich fibrin (L-PRF) in vivo. BACKGROUND DATA: L-PRF has exhibited promising results as a cell carrier in bone regeneration in a number of clinical studies, however there are some studies that did not confirm the positive results of L-PRF application. METHODS: Mechanical & physiochemical characteristics of the COL/nß-TCP membrane (1/2 & 1/4) were tested. Proliferation and osteogenic differentiation of seeded cells on bilayer collagen/nß-TCP thick membrane was examined. Then, critical-sized calvarial defects in 8 white New Zealand rabbits were filled with either Col, Col/nß-TCP, Col/nß-TCP combined with L-PRF membrane, or left empty. New bone formation (NBF) was measured histomorphometrically 4 & 8 weeks postoperatively. RESULTS: Compressive modulus increases while porosity decreases with higher ß-TCP concentrations. Mechanical properties improve, with 89 % porosity (pore size ∼100 µm) in the bilayer-collagen/nß-TCP membrane. The bilayer design also enhances the proliferation and ALP activity. In vivo study shows no significant difference among test groups at 4 weeks, but Col/nß-TCP + L-PRF demonstrates more NBF compared to others (P < 0.05) after 8 weeks. CONCLUSION: The bilayer-collagen/nß-TCP thick membrane shows promising physiochemical in vitro results and significant NBF, as ¾ of the defect is filled with lamellar bone when combined with L-PRF membrane.


Assuntos
Doenças Ósseas/terapia , Regeneração Óssea/genética , Colágeno/farmacologia , Fibrina Rica em Plaquetas/metabolismo , Animais , Doenças Ósseas/genética , Doenças Ósseas/patologia , Colágeno/química , Humanos , Leucócitos/metabolismo , Membranas/química , Osteogênese/efeitos dos fármacos , Osteogênese/genética , Fibrina Rica em Plaquetas/química , Coelhos
7.
Tissue Cell ; 63: 101325, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32223954

RESUMO

Healing of critical sized bone defects represents a challenging issue in clinical and research fields. Current therapeutic techniques, such as bone grafts or bone grafts substitutes, still have limitations and drawbacks. Therefore, stem cell-based therapy provides a prospective approach to enhance bone regeneration. The present study aimed to assess the regenerative capacity of Gingival mesenchymal stem cells (GMSCs) as well as Bone marrow mesenchymal stem cells (BMSCs) loaded on NanoBone scaffold, in comparison to the unloaded one, in surgically created bone defects in rabbits' tibiae. To achieve this aim, critical sized bone defects, of 6-mm diameter each, were unilaterally created in tibiae of adult New Zeeland male white rabbits (n = 27). The rabbits were then divided randomly into three groups (9 each) and received the following: Group I: Unloaded NanoBone Scaffold, Group II: GMSCs Loaded on NanoBone Scaffold, and Group III: BMSCs Loaded on NanoBone Scaffold. Three rabbits from each group were then sacrificed at each time point (2, 4 and 6 weeks postoperatively), tibiae were dissected out to evaluate bone healing in the created bony defects; both histologically and histomorphometrically. The findings of this study indicate that both GMSCs and BMSCs exhibited fibroblast morphology and expressed phenotypic MSCs markers. Histologically, local application of GMSCs and BMSCs loaded on NanoBone scaffold showed enhanced the pattern of bone regeneration as compared to the unloaded scaffold. Histomorphometrically, there was astatistically insignificant difference in the new bone area % between the bony defects treated with GMSCs and BMSCs. Thus, GMSCs can be considered as a comparable alternative source to BMSCs in bone regeneration.


Assuntos
Doenças Ósseas/terapia , Regeneração Óssea/genética , Gengiva/citologia , Transplante de Células-Tronco Mesenquimais , Animais , Doenças Ósseas/patologia , Diferenciação Celular/genética , Combinação de Medicamentos , Durapatita/farmacologia , Humanos , Células-Tronco Mesenquimais/citologia , Osteogênese/efeitos dos fármacos , Coelhos , Dióxido de Silício/farmacologia , Engenharia Tecidual/métodos
8.
J S Afr Vet Assoc ; 91(0): e1-e4, 2020 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-32129635

RESUMO

A feather cyst in the cervical region which, through complications of inward growth, resulted in compression of the cervical spinal cord of a Lohmann Brown layer is described. It is postulated that expansion of the cyst exerted pressure on the adjacent cervical vertebra and through bone lysis created an opening through which the cyst protruded, thereby exerting pressure on the spinal cord. The affected spinal cord segment was reduced to a fifth of its normal diameter. The bird most likely died of starvation because of limb and neck paralysis and disorientation. Although the cause of the feather cyst was not conclusively identified, moulting and trauma could have triggered its formation and subsequent growth.


Assuntos
Doenças Ósseas/veterinária , Vértebras Cervicais/patologia , Galinhas , Cistos/veterinária , Doenças das Aves Domésticas , Compressão da Medula Espinal/veterinária , Animais , Doenças Ósseas/complicações , Doenças Ósseas/etiologia , Doenças Ósseas/patologia , Cistos/complicações , Cistos/etiologia , Cistos/patologia , Plumas , Feminino , Doenças das Aves Domésticas/etiologia , Doenças das Aves Domésticas/patologia , Compressão da Medula Espinal/patologia
9.
AJNR Am J Neuroradiol ; 41(3): 387-392, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32029464

RESUMO

BACKGROUND AND PURPOSE: There is scarcity of data on the comparative efficacy between bone biopsy drill systems across various types of bone lesions. Our aim was to investigate differences in diagnostic yield, scanning time, and radiation dose between manual and battery-powered bone biopsy systems in CT-guided biopsies of lytic, sclerotic, and infectious bone lesions. MATERIALS AND METHODS: This was a retrospective single-center institutional review board-approved study. A total of 585 CT-guided core needle biopsies were performed at 1 institution from May 2010 to February 2019. Classification of bone lesions, location, bone biopsy system, suspected origin of primary disease, final pathologic diagnosis, diagnostic yield, presence of crush artifacts, radiation dose, and scanning times were collected. For the battery-powered system, OnControl was used. For the manual drill system, Bonopty, Osteo-site, and Laurane drill systems were used. Comparisons in lytic and sclerotic lesions and suspected discitis/osteomyelitis were made using the Fisher exact test. Subgroup analysis of the drill systems for scanning time and radiation dose was performed by 1-way ANOVA. RESULTS: Our patient cohorts consisted of a total of 585 patients with 422 lytic, 110 sclerotic, and 53 suspected infectious lesions. The mean age was 62 ± 13 years with a male/female ratio of 305:280 for all lesions. The diagnostic yield was 85.5% (362/422) for lytic, 82.7% (91/110) for sclerotic, 50.9% (27/53) for infectious lesions, and 82.1% (480/585) for all lesions. No statistical difference was found when comparing diagnostic yields of powered drills with the manual systems for lytic, sclerotic, and infectious lesions. However, in a subgroup analysis, radiation dose and scanning time were significantly lower for powered drill compared with manual drill systems in lytic (P = .001 for both) and sclerotic lesions (P = .028 and P = .012, respectively). No significant differences were seen between the drill systems for suspected infectious lesions. CONCLUSIONS: Our findings demonstrate that there was no statistically significant difference in diagnostic yield when comparing battery-powered and manual bone biopsy systems for CT-guided bone biopsies; however, the use of the power drill system resulted in significantly reduced scanning time and radiation dose in lytic and sclerotic lesions.


Assuntos
Biópsia com Agulha de Grande Calibre/instrumentação , Doenças Ósseas/diagnóstico por imagem , Biópsia Guiada por Imagem/instrumentação , Radiografia Intervencionista/instrumentação , Adulto , Idoso , Biópsia com Agulha de Grande Calibre/métodos , Doenças Ósseas/patologia , Feminino , Humanos , Biópsia Guiada por Imagem/métodos , Masculino , Pessoa de Meia-Idade , Doses de Radiação , Radiografia Intervencionista/métodos , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos
10.
Arch Orthop Trauma Surg ; 140(6): 815-825, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32100108

RESUMO

INTRODUCTION: The treatment of severe acetabular bone loss remains a difficult challenge. No classification system is available that combines intuitive use, structured design and offers a therapeutic recommendation according to the current literature and modern state of the art treatment options. The goal of this study is to introduce an intuitive, reproducible and reliable guideline for the evaluation and treatment of acetabular defects. METHODS: The proposed Acetabular Defect Classification (ADC) is based on the integrity of the acetabular rim and supporting structures. It consists of 4 main types of defects ascending in severity and subdivisions narrowing down-defect location. Type 1 presents an intact acetabular rim, type 2 includes a noncontained defect of the acetabular rim ≤ 10 mm, in type 3 the rim defect exceeds 10 mm and type 4 includes different kinds of pelvic discontinuity. A collective of 207 preoperative radiographs were graded according to ADC and correlated with intraoperative findings. Additionally, a randomized sample of 80 patients was graded according to ADC by 5 observers to account for inter- and intra-rater reliability. RESULTS: We evaluated the agreement of preoperative, radiographic grading and intraoperative findings presenting with a k value of 0.74. Interobserver agreement presented with a k value of 0.62 and intraobserver at a k value of 0.78. CONCLUSION: The ADC offers an intuitive, reliable and reproducible classification system. It guides the surgeon pre- and intraoperatively through a complex field of practice.


Assuntos
Acetábulo , Artroplastia de Quadril , Doenças Ósseas , Complicações Pós-Operatórias , Reoperação/métodos , Acetábulo/diagnóstico por imagem , Acetábulo/patologia , Acetábulo/cirurgia , Artroplastia de Quadril/efeitos adversos , Artroplastia de Quadril/métodos , Doenças Ósseas/classificação , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/patologia , Doenças Ósseas/cirurgia , Prótese de Quadril/efeitos adversos , Humanos , Complicações Pós-Operatórias/classificação , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/patologia , Complicações Pós-Operatórias/cirurgia , Guias de Prática Clínica como Assunto
11.
J Clin Neurosci ; 72: 486-492, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31911110

RESUMO

Gorham-Stout disease is a rare condition of uncertain aetiology characterised by lymphatic proliferation within osseous structures and subsequent massive osteolysis. This report describes the index case of a patient with multifocal Gorham-Stout disease involving the skull base with Chiari I malformation and recurrent aseptic meningitis without fistula. A five-year-old male presented following decompression of a Chiari I malformation with headaches, vomiting, and stiff neck and cerebrospinal fluid pleocytosis without growth of a pathogenic organism. Ongoing symptoms prompted a further three presentations over several months revealing persistent aseptic cerebrospinal fluid monocytic pleocytosis. Further investigation revealed multifocal osseous cystic disease and subsequent bone biopsy suggested Gorham-Stout disease. Suboccipital decompression was not repeated despite craniocervical junction re-stenosis. A literature review demonstrated the extreme rarity of Gorham-Stout disease associated with Chiari I malformation and meningitis. Potential mechanisms of these entities occurring in concert are discussed. Consideration of Gorham-Stout disease as a secondary cause for Chiari I malformation is important amid local bone changes or cerebrospinal fluid leakage prior to pursuing suboccipital decompression considering the poor outcomes reported.


Assuntos
Malformação de Arnold-Chiari/etiologia , Malformação de Arnold-Chiari/patologia , Meningite Asséptica/etiologia , Meningite Asséptica/patologia , Osteólise Essencial/complicações , Osteólise Essencial/patologia , Doenças Ósseas/patologia , Infecções do Sistema Nervoso Central/cirurgia , Vazamento de Líquido Cefalorraquidiano/etiologia , Pré-Escolar , Cefaleia/cirurgia , Humanos , Masculino , Procedimentos Neurocirúrgicos/efeitos adversos , Base do Crânio/patologia
12.
Urology ; 136: 238-240, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31758979

RESUMO

Menkes disease, or Kinky Hair Syndrome, is a rare disorder of copper metabolism that causes fatal neurodegenerative disease in infancy. This X-linked disorder results from mutations in the ATP7A gene. Along with neurological decline, characteristic coarse appearance of the hair is seen. Urological issues are prevalent in this patient population, with bladder diverticula being the most common. Herein, we describe a unique male patient with genetic mosaicism and osseous metaplasia found in a ruptured bladder diverticulum.


Assuntos
Doenças Ósseas/etiologia , Doenças Ósseas/patologia , Osso e Ossos/patologia , Divertículo/complicações , Síndrome dos Cabelos Torcidos/complicações , Bexiga Urinária/anormalidades , Criança , Humanos , Masculino , Síndrome dos Cabelos Torcidos/genética , Metaplasia/etiologia , Mosaicismo
13.
Hematology ; 24(1): 276-281, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31793406

RESUMO

Aim: This study was planned to evaluate bone health in patients with hereditary spherocytosis.Materials and methods: In this prospective study, a total of 30 hereditary spherocytosis patients which followed in the Pediatric Hematology and Oncology Department of KSU Medical Faculty and 30 patients for control group were included. Patient and control group were chosen equal in age and sex. Hemogram and biochemical tests (serum calcium, phosphorus, alkaline phosphatase, parathormone, vitamin D) and osteocalcin were studied from the patient and control groups. Also DXA examination was performed in the patient group.Results: There was a significant difference in hemogram parameters between the two groups due to hemolytic anemia in hereditary spherocytosis patients. In the patient group, osteocalcin was 6.88 ± 4.35 ng/ml, vitamin D was 17.74 ± 7.76 ng/ml and in the control group osteocalcin was 11.93 ± 8.92 ng/ml, vitamin D was 24.04 ± 11.70 ng/ml. There was a statistically significant difference between the vitamin D and osteocalcin levels of the two groups (p = 0.017 and 0.008, respectively). Bone density was assessed in the patient group. In patients DXA results showed lower Z-scores then the normal population according to age and sex.Conclusion: Hereditary spherocytosis patients should be followed closely in terms of development, puberty, bone health as they are in other hemolytic anemias. Nutritional recommendations, vitamin D supplementation, physical activity should be advised to protect bone health.


Assuntos
Doenças Ósseas/etiologia , Osso e Ossos/metabolismo , Esferocitose Hereditária/complicações , Vitamina D/metabolismo , Adolescente , Doenças Ósseas/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos
14.
J Int Adv Otol ; 15(3): 391-395, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31846917

RESUMO

OBJECTIVES: Petrous bone cholesteatoma is a rare pathologic entity and may be a difficult surgical challenge because of potential involvement of the facial nerve, carotid artery, dura mater, otic capsule and superior petrosal or lateral sinus. The objective of this article is to present the endoscope-assisted surgery for petrous bone cholesteatoma. MATERIALS AND METHODS: Eight patients (nine ears) who underwent endoscope-assisted petrous bone surgery for cholesteatoma. Pure tone audiogram, magnetic resonance imaging were performed at preoperatively, and at approximately 12 months postoperatively. RESULTS: Endoscope assisted surgery was performed in 8 patients and 9 ears. Of these patients, 6 were male and 2 were females. Median age was 19,5 (range 7-52) years. Hearing was able to preserved in 8 ears (8/9). Recurrence disease was observed one ear in long term follow up (1/9). In another one patient, cholesteatoma pearl was removed in the office. CONCLUSION: Endoscope-assisted surgery can allow removal of cholesteatoma of petrous apex with preserving hearing. It also provides to remove the cholesteatoma via transmastoid approach for perilabyrinthine space as "minimally invasive surgery" instead of middle fossa approach that is standard surgical procedure. In apical and peri-labyrinthine cholesteatomas, endoscopes allow to preserve hearing with middle fossa approach instead of trans-otic/ trans-labyrinthine/trans-cochlear approach.


Assuntos
Doenças Ósseas/cirurgia , Colesteatoma/cirurgia , Endoscopia/métodos , Audição , Osso Petroso/patologia , Adolescente , Adulto , Doenças Ósseas/patologia , Doenças Ósseas/fisiopatologia , Criança , Colesteatoma/patologia , Colesteatoma/fisiopatologia , Orelha Interna/fisiopatologia , Orelha Interna/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
15.
PLoS One ; 14(10): e0222225, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31622347

RESUMO

BACKGROUND: HIV-positive patients are facing age-and disease-related comorbidities. Since gender differences in viro-immunological, clinical and therapeutic features have been described, aim of this analysis was to explore such differences in elderly HIV-positive females compared to males coming from the same cohort. DESIGN: Cross-sectional study. SETTING: Ten Infectious Diseases Center participating to a new multicenter Italian geriatric Cohort aiming at describing health transition over time in HIV-positive individuals. PARTICIPANTS: HIV-positive patients aged ≥65 years old. MEASUREMENTS: We recorded clinical, viro-immunological and therapeutical data. RESULTS: We included 210 women (17%) out of 1237 patients. Compared to males, elderly females were less likely to present a HIV-RNA <50 copies/mL (74.3% vs. 81.8%, OR 0.64, 95%CI 0.44-0.93); they showed higher CD4+/CD8+ ratio (p = 0.016). Combined antiretroviral therapy (cART) strategies were similar between genders (p>0.05), although women were less likely to be treated with protease Inhibitors (PIs) (p = 0.05); specifically, in triple-drug regimens females received less PIs (28% vs 38% p = 0.022) and more integrase inhibitors (30% vs. 20% p = 0.012). Bone disease was more common in females (p<0.001) while males presented more frequently cardiovascular disease (CVD) (p<0.001). In females with bone disease, PIs and boosted regimens (38% vs. 53.7% p = 0.026 and 30.4 vs 44.0% p = 0.048 respectively) were prescribed less frequently. Polypharmacy was common and similar in both genders (20% vs. 22.8%, p = >0.05). A higher use of lipid-lowering drugs (20.5% vs. 14.8%, p = 0.04) was observed in females and yet they were less likely to receive anti-thrombotic agents (18.6% vs. 26.3%, p = 0.019) even when CVD was recorded (57.1% vs. 83.1%, p = 0.018). In multivariate analysis, we found that female gender was independently associated with a higher CD4+/CD8+ ratio but not with virological suppression. CONCLUSIONS: Elderly HIV-positive women display a worse virologic response despite a better immune reconstitution compared to males. The burden of comorbidities as well as the medications received (including cART) may slightly differ according to gender. Our data suggest that more efforts and focused interventions are needed in this population.


Assuntos
Doenças Ósseas/epidemiologia , Linfócitos T CD4-Positivos/efeitos dos fármacos , Infecções por HIV/epidemiologia , HIV-1/efeitos dos fármacos , Idoso , Idoso de 80 Anos ou mais , Fármacos Anti-HIV/administração & dosagem , Doenças Ósseas/complicações , Doenças Ósseas/patologia , Doenças Ósseas/virologia , Linfócitos T CD4-Positivos/virologia , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/patologia , Doenças Cardiovasculares/virologia , Estudos de Coortes , Quimioterapia Combinada , Feminino , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Infecções por HIV/virologia , Soropositividade para HIV/sangue , Soropositividade para HIV/virologia , HIV-1/patogenicidade , Humanos , Masculino , RNA Viral/genética , Caracteres Sexuais , Carga Viral/efeitos dos fármacos
16.
Arch Pediatr ; 26(7): 411-414, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31630906

RESUMO

Xanthomas are rare bone tumors that occur more often in patients with hyperlipidemia or metabolic disorders. We report the case of a 9-year-old child presenting with right shoulder pain after a trauma. A benign osteolytic lesion was found in the proximal humeral metaphysis. Curettage of the lesion was performed. Histologic findings confirmed intraosseous xanthoma. Although there was no evidence of dyslipidemia or metabolic disease, the patient suffered local recurrence at the 8-month follow-up, requiring a second surgery with bone grafting. This difficult and rare diagnosis must be kept in mind with osteolytic lesions.


Assuntos
Doenças Ósseas/diagnóstico , Úmero , Xantomatose/diagnóstico , Doenças Ósseas/patologia , Doenças Ósseas/cirurgia , Criança , Humanos , Úmero/patologia , Úmero/cirurgia , Hiperlipidemias , Masculino , Recidiva , Xantomatose/patologia , Xantomatose/cirurgia
17.
Nat Commun ; 10(1): 4533, 2019 10 04.
Artigo em Inglês | MEDLINE | ID: mdl-31586071

RESUMO

Multiple myeloma is an incurable, bone marrow-dwelling malignancy that disrupts bone homeostasis causing skeletal damage and pain. Mechanisms underlying myeloma-induced bone destruction are poorly understood and current therapies do not restore lost bone mass. Using transcriptomic profiling of isolated bone lining cell subtypes from a murine myeloma model, we find that bone morphogenetic protein (BMP) signalling is upregulated in stromal progenitor cells. BMP signalling has not previously been reported to be dysregulated in myeloma bone disease. Inhibition of BMP signalling in vivo using either a small molecule BMP receptor antagonist or a solubilized BMPR1a-FC receptor ligand trap prevents trabecular and cortical bone volume loss caused by myeloma, without increasing tumour burden. BMP inhibition directly reduces osteoclastogenesis, increases osteoblasts and bone formation, and suppresses bone marrow sclerostin levels. In summary we describe a novel role for the BMP pathway in myeloma-induced bone disease that can be therapeutically targeted.


Assuntos
Doenças Ósseas/tratamento farmacológico , Proteínas Morfogenéticas Ósseas/metabolismo , Mieloma Múltiplo/complicações , Pirazóis/farmacologia , Pirimidinas/farmacologia , Células-Tronco/efeitos dos fármacos , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Animais , Densidade Óssea/efeitos dos fármacos , Doenças Ósseas/etiologia , Doenças Ósseas/patologia , Medula Óssea/patologia , Receptores de Proteínas Morfogenéticas Ósseas/antagonistas & inibidores , Receptores de Proteínas Morfogenéticas Ósseas/metabolismo , Linhagem Celular Tumoral , Modelos Animais de Doenças , Fêmur/citologia , Fêmur/efeitos dos fármacos , Fêmur/patologia , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Humanos , Injeções Intraperitoneais , Camundongos , Camundongos Endogâmicos , Mieloma Múltiplo/patologia , Osteoclastos/efeitos dos fármacos , Osteoclastos/metabolismo , Osteogênese/efeitos dos fármacos , Pirazóis/uso terapêutico , Pirimidinas/uso terapêutico , RNA-Seq , Transdução de Sinais/efeitos dos fármacos , Células-Tronco/patologia , Tíbia/citologia , Tíbia/efeitos dos fármacos , Tíbia/patologia , Resultado do Tratamento , Ensaios Antitumorais Modelo de Xenoenxerto
18.
Int J Mol Sci ; 20(17)2019 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-31480433

RESUMO

Osteoporosis is a frequently observed complication in patients with chronic liver disease, particularly liver cirrhosis and cholestatic liver diseases. In addition, osteoporosis is critical in patients receiving a liver transplant. Nevertheless, few studies have evaluated bone diseases in patients with more frequently observed chronic liver disease, such as chronic viral hepatitis, nonalcoholic fatty liver disease and alcoholic liver disease. Osteoporosis is a disease caused by an imbalance in the activities of osteoblasts and osteoclasts. Over the last few decades, many advances have improved our knowledge of the pathogenesis of osteoporosis. Importantly, activated immune cells affect the progression of osteoporosis, and chronic inflammation may exert an additional effect on the existing pathophysiology of osteoporosis. The microbiota of the intestinal tract may also affect the progression of bone loss in patients with chronic liver disease. Recently, studies regarding the effects of chronic inflammation on dysbiosis in bone diseases have been conducted. However, mechanisms underlying osteoporosis in patients with chronic liver disease are complex and precise mechanisms remain unknown. The following special considerations in patients with chronic liver disease are reviewed: bone diseases in patients who underwent a liver transplant, the association between chronic hepatitis B virus infection treatment and bone diseases, the association between sarcopenia and bone diseases in patients with chronic liver disease, and the association between chronic liver disease and avascular necrosis of the hip. Few guidelines are currently available for the management of low bone mineral density or bone diseases in patients with chronic liver disease. Due to increased life expectancy and therapeutic advances in chronic liver disease, the importance of managing osteoporosis and other bone diseases in patients with chronic liver disease is expected to increase. Consequently, specific guidelines need to be established in the near future.


Assuntos
Doenças Ósseas/complicações , Hepatopatias/complicações , Animais , Doenças Ósseas/patologia , Doenças Ósseas/terapia , Doença Crônica , Gerenciamento Clínico , Humanos , Hepatopatias/patologia , Hepatopatias/terapia , Transplante de Fígado
19.
Semin Musculoskelet Radiol ; 23(5): 511-522, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31556086

RESUMO

Accessory bones, variants, and coalitions are not uncommon at the hand-wrist region. They are often overlooked because they are usually asymptomatic and found incidentally on imaging. However, they may sometimes present as a (painful) swelling or mimic a (sequel of a) fracture. Other symptoms may be attributed to impingement and exercise-related pain. Thorough knowledge of the anatomy, systematic imaging analysis, and the awareness of their existence are the clues to a correct identification. Plain radiography and magnetic resonance imaging (MRI) play a pivotal role in the correct diagnosis. In general, signal intensity on MRI is similar to the normal bony structures. However, concomitant bone marrow edema may indicate the presence of impingement. Therefore, MRI sequences with fat suppression should be included in case of symptomatic findings. This article provides a kaleidoscopic overview of some of the prevalent bony anomalies of the hand-wrist region and their potential pathogenic nature.


Assuntos
Doenças Ósseas/diagnóstico por imagem , Deformidades Congênitas da Mão/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Radiografia/métodos , Punho/anormalidades , Doenças Ósseas/patologia , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Mãos/diagnóstico por imagem , Humanos , Punho/diagnóstico por imagem
20.
Genes (Basel) ; 10(9)2019 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-31438591

RESUMO

The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS). Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl with a clinical presentation suggestive of spEDS, according to the 2017 EDS nosology, in whom compound heterozygosity for two B3GAT3 likely pathogenic variants was identified. We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives.


Assuntos
Fenótipo de Síndrome de Antley-Bixler/genética , Aracnodactilia/genética , Doenças Ósseas/congênito , Craniossinostoses/genética , Nanismo/genética , Glucuronosiltransferase/genética , Síndrome de Marfan/genética , Mutação , Osteocondrodisplasias/genética , Fenótipo , Dermatopatias Genéticas/genética , Adolescente , Fenótipo de Síndrome de Antley-Bixler/patologia , Aracnodactilia/patologia , Doenças Ósseas/genética , Doenças Ósseas/patologia , Craniossinostoses/patologia , Nanismo/patologia , Feminino , Humanos , Síndrome de Marfan/patologia , Osteocondrodisplasias/patologia , Dermatopatias Genéticas/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA