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2.
Ecotoxicol Environ Saf ; 208: 111721, 2021 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-33396052

RESUMO

The City of Yellowknife is a known hotspot of arsenic contamination and there is a growing body of evidence suggesting that local wildlife in the vicinity of the abandoned Giant Mine site may be at risk of decreased bone mineralization and various bone disorders. The purpose of this study was to preliminarily measure bone mineral density (BMD) changes and investigate the incidence, pattern, and severity of bone lesions in wild muskrats and red squirrels breeding in three (3) catchment areas at different distances from the Giant Mine Site in Yellowknife, Northwest Territories (Canada): ~2 km (location 1), ~18 km (location 2), and ~40-100 km (location 3). Full femoral bones of 15 muskrats and 15 red squirrels were collected from the three sampling locations (5 from each location) and subjected to radiographic analysis and densitometric measurements. The patterns and severities of bone lesions, including changes in bone mineral density, were evaluated and compared between groups. As levels were significantly higher in the bones of muskrats caught from location 1 and 2, relative to location 3. Further, As and Cd levels were significantly higher in the bones of squirrels caught from locations 1 and 2 relative to squirrels caught from location 3. The preliminary results from bones revealed that radiographic abnormalities such as bone rarefaction, osteopenia, and thinning of the femoral shafts with significant ossific cystic lesions and bowing were the most common skeletal pathologies found in bones of red squirrels from the three locations. Radiographic appearances of massive sclerosis and dysplasia, including severe osteocondensation and osteopathia striata-like abnormalities, were found in the bones of muskrats from all the sampling locations. Densitometric evaluation showed no significant differences between the three locations in the bone parameters measured. However, there was a statistically significant correlation between As content in the bones of muskrats and percent fat content in the femur samples, which suggests that accumulation of As could have been a causal factor for a change in percent fat in femurs of muskrats.


Assuntos
Intoxicação por Arsênico/veterinária , Arsênico/efeitos adversos , Densidade Óssea/efeitos dos fármacos , Doenças Ósseas/veterinária , Poluentes Ambientais/envenenamento , Animais , Animais Selvagens , Arsênico/metabolismo , Intoxicação por Arsênico/diagnóstico por imagem , Intoxicação por Arsênico/patologia , Arvicolinae , Doenças Ósseas/induzido quimicamente , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/patologia , Densitometria , Poluentes Ambientais/análise , Gorduras/metabolismo , Feminino , Fêmur/diagnóstico por imagem , Fêmur/efeitos dos fármacos , Fêmur/metabolismo , Fêmur/patologia , Territórios do Noroeste/epidemiologia , Sciuridae
3.
BMJ Case Rep ; 14(1)2021 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-33495189

RESUMO

We report an extremely rare case of adult Langerhans cell histiocytosis (LCH) in a patient with papillary thyroid carcinoma (PTC) and Castleman disease (CD). A 46-year-old man visited our hospital with anaemia; systemic imaging showed an abdominal and a left thyroid mass. Biopsy confirmed CD for the abdominal mass and PTC for the thyroid mass. Two months after, he presented with headache and a right parietal lump. Brain CT and enhanced MRI revealed an osteolytic mass with enhancement in the right parietal skull. Surgical removal and biopsy confirmed the diagnosis of skull LCH. The BRAF mutation was positive on PTC and negative on CD and LCH. We conducted surgical resection only for PTC and LCH; surgical resection with siltuximab for multicentric CD. At the 25-month follow-up, there was no recurrence or progression. We may consider of syndromic nature of these diseases to establish a treatment strategy.


Assuntos
Doenças Ósseas/diagnóstico por imagem , Hiperplasia do Linfonodo Gigante/diagnóstico por imagem , Histiocitose de Células de Langerhans/diagnóstico por imagem , Câncer Papilífero da Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Anticorpos Monoclonais/uso terapêutico , Antineoplásicos/uso terapêutico , Doenças Ósseas/complicações , Doenças Ósseas/patologia , Doenças Ósseas/cirurgia , Hiperplasia do Linfonodo Gigante/complicações , Hiperplasia do Linfonodo Gigante/tratamento farmacológico , Hiperplasia do Linfonodo Gigante/patologia , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/cirurgia , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Crânio , Câncer Papilífero da Tireoide/complicações , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Tomografia Computadorizada por Raios X
4.
Cancer Radiother ; 25(1): 51-54, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33376045

RESUMO

Bone location is uncommon in both sarcoidosis and in neck cancer (HNC). Diagnosis of a bone lesion is therefore challenging to distinguish its nature in a patient suffering from both diseases. We report the case of a 69-years-old woman referred for P16 positive HPV-HNC. Magnetic Resonance Imaging (MRI) showed T2 hypo-signal on iliac crest and spine. 18FDG-PET demonstrated radiotracer uptake on these locations suggesting bone metastasis. However, bone biopsy showed epithelioid granuloma without malignant cells compatible with sarcoidosis location. The diagnosis of both localized advanced HPV-HNC and systemic sarcoidosis (bone, central nervous system) were retained. The patient received corticosteroid regimen at 0.5mg/kg/day and Methotrexate for sarcoidosis and radiation and chemotherapy with platins for carcinoma. As granulomatous bone marrow infiltration may have an uptake on 18FDG-PET, bone sarcoidosis can mimic metastatic disease. In addition, MRI often fails to distinguish sarcoidosis lesions from metastatic lesion in bones. As no reliable imaging test can decipher both diseases, the description of our case reinforces the necessity to perform bone biopsy in a patient suffering from both conditions to expertise the nature of bone lesions.


Assuntos
Doenças Ósseas/diagnóstico por imagem , Papillomavirus Humano 16 , Neoplasias Orofaríngeas/diagnóstico por imagem , Sarcoidose/diagnóstico por imagem , Corticosteroides/uso terapêutico , Idoso , Doenças Ósseas/tratamento farmacológico , Quimiorradioterapia/métodos , Feminino , Humanos , Ílio/diagnóstico por imagem , Imunossupressores/uso terapêutico , Imagem por Ressonância Magnética , Metotrexato/uso terapêutico , Neoplasias Orofaríngeas/terapia , Neoplasias Orofaríngeas/virologia , Sarcoidose/tratamento farmacológico , Doenças da Coluna Vertebral/diagnóstico por imagem
6.
Radiologe ; 60(9): 863-876, 2020 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-32856134

RESUMO

Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease in childhood and adolescence with a preference for the female gender. It is manifested with multiple osseous lesions, with a predilection for the metaphyseal end zones of the long bones of the lower extremities. These bone lesions usually occur multifocally, can recur and develop a different appearance depending on the bone structure affected. Patients present with a longer disease history, changing clinical symptoms and unspecific paraclinical signs. Magnetic resonance imaging (MRI) is the imaging of choice and particularly as a whole body examination can speed up the diagnosis and is an important component of follow-up controls. Differential diagnoses include numerous inflammatory, benign and malignant bone diseases. Therefore, it is essential to know the diagnosis of CNO and to take it into consideration in cases of an unclear inflammatory bone process in young patients.


Assuntos
Doenças Ósseas , Osteomielite , Adolescente , Doenças Ósseas/diagnóstico por imagem , Osso e Ossos , Criança , Doença Crônica , Diagnóstico Diferencial , Feminino , Humanos , Imagem por Ressonância Magnética , Osteomielite/diagnóstico por imagem
7.
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
9.
Ann Rheum Dis ; 79(7): 901-907, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32366522

RESUMO

OBJECTIVES: To investigate, in anti-cyclic citrullinated peptide antibody positive (CCP+) at-risk individuals without clinical synovitis, the prevalence and distribution of ultrasound (US) bone erosions (BE), their correlation with subclinical synovitis and their association with the development of inflammatory arthritis (IA). METHODS: Baseline US scans of 419 CCP+ at-risk individuals were analysed. BE were evaluated in the classical sites for rheumatoid arthritis damage: the second and fifth metacarpophalangeal (MCP2 and MCP5) joints, and the fifth metatarsophalangeal (MTP5) joints. US synovitis was defined as synovial hypertrophy (SH) ≥2 or SH ≥1+power Doppler signal ≥1. Subjects with ≥1 follow-up visit were included in the progression analysis (n=400). RESULTS: BE were found in ≥1 joint in 41/419 subjects (9.8%), and in 55/2514 joints (2.2%). The prevalence of BE was significantly higher in the MTP5 joints than in the MCP joints (p<0.01). A significant correlation between BE and US synovitis in the MTP5 joints was detected (Cramer's V=0.37, p<0.01). The OR for the development of IA (ever) was highest for the following: BE in >1 joint 10.6 (95% CI 1.9 to 60.4, p<0.01) and BE and synovitis in ≥1 MTP5 joint 5.1 (95% CI 1.4 to 18.9, p=0.02). In high titre CCP+ at-risk individuals, with positive rheumatoid factor and BE in ≥1 joint, the OR increased to 16.9 (95% CI 2.1-132.8, p<0.01). CONCLUSIONS: In CCP+ at-risk individuals, BE in the feet appear to precede the onset of clinical synovitis. BE in >1 joint, and BE in combination with US synovitis in the MTP5 joints, are the most predictive for the development of clinical arthritis.


Assuntos
Artrite Reumatoide/diagnóstico por imagem , Doenças Ósseas/diagnóstico por imagem , Ultrassonografia , Adulto , Anticorpos Anti-Proteína Citrulinada/sangue , Artrite Reumatoide/sangue , Artrite Reumatoide/complicações , Doenças Ósseas/etiologia , Progressão da Doença , Feminino , Ossos do Pé/diagnóstico por imagem , Ossos do Pé/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Medição de Risco , Fatores de Risco
13.
J Craniofac Surg ; 31(4): e375-e378, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32149983

RESUMO

BACKGROUND: Cephalohematoma is collection of blood between skull and periosteum that is confined by cranial sutures. Cephalohematomas usually resorb spontaneously within the first month of life; however, if it fails to resolve, ossified cephalohematoma may form. METHODS: Clinical archiving system and picture archiving and communication system were retrospectively reviewed for cases of birth-related cephalohematoma. Cases of ossified cephalohematomas identified on imaging were retrieved from this subset of patients. Cross-sectional imaging findings in patients with ossified cephalohematomas were evaluated for location, size of the hematoma, and contours of the inner lamella. RESULTS: Out of 115 cases of cephalohematoma, 7 cases had imaging findings consistent with ossified cephalohematoma. All ossified cephalohematomas were located parietally, with size ranging between 18 and 55 mm and the thickness of the outer rim of calcification ranging between 1.5 and 4.8 mm. The contour of inner lamella in relation to the surrounding normal cranial vault was normal in 5 cases, and inner lamella was depressed in 2 cases.Three patients had follow-up imaging available for demonstration of changes in ossified cephalohematoma. The first case was an 11 day-old boy with a cephalohematoma with no signs of calcification at the time of initial imaging. Follow-up at 2 months of age showed partial regression of hematoma cavity with marked calcification at the hematoma walls. The second case was a 3 month-old boy with ossified cephalohematoma at initial imaging. Follow-up imaging at 7 months of age showed almost total regression of hematoma cavity, and approximation of inner and outer lamella with increased thickness of the cranial vault. The third case was a 1 month-old boy with ossified cephalohematoma at initial imaging that totally resolved without residual increased bone thickness at 21-month follow-up. CONCLUSION: These 3 cases demonstrate the variability in temporal changes that may occur in ossified cephalohematomas.


Assuntos
Hematoma/cirurgia , Traumatismos do Nascimento/diagnóstico por imagem , Traumatismos do Nascimento/cirurgia , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/cirurgia , Calcinose/diagnóstico por imagem , Calcinose/cirurgia , Feminino , Hematoma/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Masculino , Periósteo/diagnóstico por imagem , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Crânio/lesões , Crânio/cirurgia
14.
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
15.
J Craniofac Surg ; 31(3): e288-e291, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32049899

RESUMO

BACKGROUND: Bilateral parietal thinning (BPT) of the calvarium is uncommon but can lead to significant morbidity, including pain or communication through the thinned bone. This study aimed to define and characterize a novel grading system for BPT. METHODS: Coronal CT scans of patients with BPT were retrospectively analyzed and anatomic measurements were taken including (1) thinning ratio, defined as calvarial thickness at the thinnest point divided by the average thickness of the surrounding bone and (2) width of the defect. In addition, patient demographics and comorbidities were collected. RESULTS: Forty-three patients were identified with BPT, with an average age of 73 ±â€Š16 years and 74% were female. The authors' novel grading scheme based on depth of calvarium involvement was found to be significantly correlated to thinning ratio (P < 0.001) and width (P < 0.001). When controlling for comorbidities, increasing age (P = 0.044) was the only significant independent risk factor associated with thinning ratio. With respect to defect size, when controlling for comorbidities, both hypertension (P = 0.025) and increasing age (P = 0.024) were found to be significant independent risk factors related to increasing defect size. Twenty patients (47%) had multiple CT scans (range 5 month-5 year interval). In this group, patients had an average of 0.66 ±â€Š0.11 mm decrease in parietal thickness per each year of increasing age, showing progressive parietal thinning with time. CONCLUSION: This study proposes a novel quantitatively-characterized grading scheme for BPT. The authors' results indicate that when controlling for comorbidities, BPT thinning is associated with increasing age, while defect width is associated with increasing age and hypertension. This grading scheme can help to diagnose, classify, and monitor patients with parietal bone thinning.


Assuntos
Osso Parietal/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Ósseas/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Tomografia Computadorizada por Raios X
16.
J Med Case Rep ; 14(1): 27, 2020 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-32019581

RESUMO

BACKGROUND: Proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births. It is a dysplastic phenomenon with predilections for the proximal two-thirds of the femur leading to limb length discrepancies. We report two cases of proximal femoral focal deficiency, which is a rare entity. CASE PRESENTATIONS: Case 1 A 4.5-month-old baby Annang tribe girl was referred in April 2019 to our Radiology Department, University of Uyo Teaching Hospital, Nigeria for lower limb radiographs. This was on account of her shortened left lower limb from birth despite uneventful antenatal history. An examination revealed bulky left thigh with abduction of her left hip joint. Radiographic evaluations showed absent left femoral capital epiphysis, with deficient proximal left femur. A diagnosis of proximal femoral focal deficiency was made. Sadly, the parents and baby failed to honor future orthopedic consultations on intimation of sequential management protocols. Case 2 A 4-month-old baby Ibibio tribe girl was similarly referred in August 2019 to the same Radiology Department for lower limb conventional radiographs due to short left lower limb that was noticed from birth. An examination showed shortened left lower limb in external rotation. Her right and left lower limbs measured 27 cm and 23 cm, respectively, with landmark taken from anterior superior iliac spine to tip of medial malleolus. A diagnosis of proximal femoral focal deficiency was made. Corroborating radiographs showed shortened and hypoplastic left femoral shaft but preserved femoral capital epiphysis. Coincidentally, the parents have not brought back their baby to our orthopedic clinic. CONCLUSIONS: The discovery of two cases of proximal femoral focal deficiency, a rare entity, from referrals for conventional radiography in our Radiology Department encourages literature documentation. Such recognition will facilitate early institution of management, thus ensuring meaningful childhood growth.


Assuntos
Doenças Ósseas/diagnóstico por imagem , Fêmur/anormalidades , Deformidades Congênitas das Extremidades Inferiores/diagnóstico por imagem , Feminino , Fêmur/diagnóstico por imagem , Humanos , Lactente , Desigualdade de Membros Inferiores , Radiografia
17.
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
18.
BMC Med Genet ; 21(1): 21, 2020 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-32005172

RESUMO

BACKGROUND: More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in affected individuals can be quite variable. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. This study aimed to investigate if specific MECP2 mutations may affects the degree of involvement of the bone status in Rett subjects. METHODS: In 232 women with Rett syndrome (mean age 13.8 ± 8.3 yrs) we measured bone mineral density at whole body and at femur (BMD-FN and BMD-TH) by using a DXA machine (Hologic QDR 4500). QUS parameters were assessed at phalanxes by Bone Profiler-IGEA (amplitude dependent speed of sound: AD-SoS and bone transmission time: BTT). Moreover, ambulation capacity (independent or assisted), fracture history and presence of scoliosis were assessed. We divided the subjects with the most common point mutations in two group based on genotype-phenotype severity; in particular, there has been consensus in recognising that the mutations R106T, R168X, R255X, R270X are considered more severe. RESULTS: As aspect, BMD-WB, BMD-FN and BMD-TH were lower in subjects with Rett syndrome that present the most severe mutations with respect to subjects with Rett syndrome with less severe mutations, but the difference was statistically significant only for BMD-FN and BMD-TH (p < 0.05). Also both AD-SoS and BTT values were lower in subjects that present the most severe mutations with respect to less severe mutations but the difference was not statistically significant. Moreover, subjects with Rett syndrome with more severe mutations present a higher prevalence of scoliosis (p < 0.05) and of inability to walk (p < 0.05). CONCLUSION: This study confirms that MECP2 mutation type is a strong predictor of disease severity in subjects with Rett syndrome. In particular, the subjects with more severe mutation present a greater deterioration of bone status, and a higher prevalence of scoliosis and inability to walk.


Assuntos
Doenças Ósseas/genética , Proteína 2 de Ligação a Metil-CpG/genética , Osteoporose/genética , Síndrome de Rett/genética , Adolescente , Adulto , Densidade Óssea/genética , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/fisiopatologia , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/genética , Fraturas Ósseas/fisiopatologia , Humanos , Masculino , Mutação , Osteoporose/diagnóstico por imagem , Osteoporose/fisiopatologia , Síndrome de Rett/diagnóstico por imagem , Síndrome de Rett/fisiopatologia , Escoliose/diagnóstico por imagem , Escoliose/genética , Escoliose/fisiopatologia , Índice de Gravidade de Doença , Adulto Jovem
19.
Arch Orthop Trauma Surg ; 140(7): 895-903, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32090290

RESUMO

INTRODUCTION: Donor site morbidity constitutes the most prevalent source of complications during anatomic glenoid reconstruction. Therefore, the aim of this study was to evaluate the clinical and radiologic results of arthroscopic anatomic glenoid reconstruction using an allogenic, tricortical iliac crest bone graft for glenoid bone loss in recurrent anterior shoulder instability. MATERIALS AND METHODS: Ten patients [one female/nine male, mean age 31.9 years (range, 26-40)] underwent allogenic iliac crest bone grafting and were evaluated clinically [range of motion, subscapularis tests, apprehension sign, Constant score (CS), Rowe score (RS), Walch-Duplay score (WD), Western Ontario Shoulder Instability Index (WOSI), Subjective Shoulder Value (SSV)] and radiographically [3-dimensional computed tomography (CT) scans]. RESULTS: After 23.2 months, the CS averaged 90 points (range, 84-98), RS 83 points (range, 50-100), WD 81 points (range, 50-100), WOSI 72% (range, 41-86) and the SSV 83% (range, 70-95). All patients showed a free range of motion and intact subscapularis muscle function. The apprehension sign was positive in three patients (30%) with a recurrent subluxation in one patient (10%). The glenoid surface area increased significantly from 84.4% (range, 73.5-92.1) preoperatively to 118.4% (range, 105.6-131.2) after surgery, while the glenoid defect was significantly reduced from 16.2% (range, 9.2-26.5) to 0.6% (range, 0-1.6). One year postoperative, total resorption of the allografts was observed with a glenoid surface area of 86.6% (range, 76.4-98.0) and corresponding increase of the glenoid defect to 14.0% (range, 2.9-23.6). CONCLUSION: Arthroscopic glenoid reconstruction using an iliac crest bone allograft achieves satisfactory clinical results and glenohumeral stability during a short-term follow-up. However, this procedure was not observed to accomplish an anatomic reconstruction of the glenoid concavity due to excessive graft resorption. LEVEL OF EVIDENCE: Level IV, case series, therapeutic study.


Assuntos
Doenças Ósseas , Transplante Ósseo , Ílio/transplante , Escápula , Transplante Homólogo , Adulto , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/cirurgia , Transplante Ósseo/efeitos adversos , Transplante Ósseo/métodos , Estudos de Coortes , Feminino , Humanos , Masculino , Escápula/diagnóstico por imagem , Escápula/cirurgia , Transplante Homólogo/efeitos adversos , Transplante Homólogo/métodos
20.
Medicine (Baltimore) ; 99(3): e18784, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32011474

RESUMO

RATIONALE: Allograft-prosthetic composites (APCs) and proximal femoral replacement have been applied for reconstruction of severe segmental femoral bone loss in revision total hip arthroplasty. The outcomes are encouraging but the complication rate is relatively high. Considering the high complication rates and mixed results of APCs and megaprosthesis, we presented a case using personalized 3D printed Titanium sleeve-prosthetic composite for reconstruction of segmental bone defect. PATIENT CONCERNS: A 73-year-old woman presented to the emergency department on account of acute severe pain of the left hip without history of trauma. She had undergone a cemented total hip arthroplasty for osteonecrosis of femoral head at the left side in 2000. In 2013 she underwent a cemented revision total hip arthroplasty as a result of aseptic loosening of hip prosthesis. She denied obvious discomfort prior to this episode since the revision surgery in 2013. DIAGNOSIS: According to the clinical history, imaging and physical examination, we confirmed the diagnosis of severe segmental bone loss of proximal femur and fracture of prosthetic stem. The femoral bone defect was evaluated using the Paprosky classification system and rated as Type 3B, and the acetabular bone defect was rated as Type 2C. INTERVENTIONS: In this study, we present the first case of severe segmental bone loss of proximal femur in revision total hip arthroplasty that was successfully treated using personalized 3D printed Titanium sleeve-prosthetic composite OUTCOMES:: At the 2-year follow-up, the patient was symptom free with a Harris Hip Score of 91. Radiographs showed excellent osteointegration between the interface of sleeve-prosthetic composite and the host bone, with no signs of implant loosening or subsidence. LESSONS: Despite the absence of long term results of 3D printed Titanium sleeve-prosthetic composite reconstruction, the good clinical and radiological outcome at 2 years follow up implied its potential role for reconstruction of segmental femoral bone defect in revision THA.


Assuntos
Artroplastia de Quadril , Doenças Ósseas/cirurgia , Prótese de Quadril , Medicina de Precisão , Impressão Tridimensional , Desenho de Prótese/métodos , Idoso , Doenças Ósseas/diagnóstico por imagem , Feminino , Fêmur , Humanos , Medicina de Precisão/métodos , Falha de Prótese , Reoperação , Titânio
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