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3.
Radiol Med ; 128(4): 467-479, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36995546

RESUMO

INTRODUCTION: MRI has a fundamental role in the follow-up of soft tissue sarcomas (STSs). However, the differentiation of recurrences/residual disease from post-surgical changes is a complex task, with a central role for the radiologist. MATERIALS AND METHODS: We retrospectively evaluated 64 post-surgery MRI for extremities STSs. MR protocol included DWI (b = 0, 1000). Two radiologists were asked to consensually evaluate: presence/absence of tumoral nodules, lesion conspicuity, imaging diagnostic confidence, ADC values, and DWI overall image quality. The gold standard was histology or MR follow-up. RESULTS: Thirty-seven lesions in 29/64 patients were confirmed as local recurrence or residual disease (n = 16 ≤ 1 cm) with 1 MR false positive. On DWI, the conspicuity of the proved tumor lesions resulted excellent in 29/37, good in 3/37 and low in 5/37, higher than conventional imaging. A statistically significant higher diagnostic confidence of DWI compared to conventional imaging (p < 0.001) and DCE (p = 0.009) was observed. In the 37 histologically confirmed lesions, mean ADC value was 1.31 × 10-9 m2/s. Overall scar tissues mean ADC was 1.70 × 10-9 m2/s. DWI quality resulted adequate in 81% and unsatisfactory in 5%. CONCLUSIONS: In this highly heterogeneous group of tumors, the role of ADC seems to be limited. Based on our experience, looking at DWI images makes the lesions promptly and easily detectable. This technique gives less deceptive findings making the reader more confident in detecting/excluding tumoral tissue; the main drawback is the image quality and the lack of standardization.


Assuntos
Sarcoma , Neoplasias de Tecidos Moles , Humanos , Imagem de Difusão por Ressonância Magnética/métodos , Seguimentos , Estudos Retrospectivos , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/cirurgia , Neoplasias de Tecidos Moles/patologia , Sarcoma/diagnóstico por imagem , Sarcoma/cirurgia , Sarcoma/patologia , Extremidades/diagnóstico por imagem , Extremidades/cirurgia
4.
Clin Exp Rheumatol ; 41(2): 301-308, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36826782

RESUMO

OBJECTIVES: The differential diagnosis between idiopathic inflammatory myopathies (IIM) and muscular dystrophies (MD) may be challenging. We analysed the potential role of muscular magnetic resonance imaging (MRI) in the differential diagnosis between IIM and MD. METHODS: MRI of patients (91 IIM and 43 MD), studied with a standardised protocol, have been collected. The presence of oedema, muscular atrophy and intramuscular adipose changes were evaluated. Moreover, we computed a composite score for each MRI item to better discriminate between the two diseases. RESULTS: Oedema was significantly more prevalent in IIM compared with MD in pelvis muscles (p<0.001), anterior lodge and medial lodges (p=0.044) of the thighs. Adipose infiltration/substitution and muscular atrophy were more prevalent in MD, in particular adipose tissue was prevalent in all the compartments of the thighs (p<0.05), atrophy was prevalent at the thighs and pelvis muscles (p<0.001). The probability of IIM increased with higher oedema score and decreased with higher atrophy and intramuscular adipose infiltration/substitution scores. CONCLUSIONS: A different distribution of muscular involvement between IIM and MD has been identified. Muscular MRI may be useful in the differential diagnosis, potentially reducing the number of muscular biopsies that may be reserved only for doubtful cases.


Assuntos
Doenças Musculares , Distrofias Musculares , Miosite , Humanos , Diagnóstico Diferencial , Doenças Musculares/diagnóstico , Miosite/diagnóstico , Distrofias Musculares/diagnóstico , Distrofias Musculares/patologia , Músculo Esquelético/patologia , Atrofia Muscular/diagnóstico , Atrofia Muscular/patologia , Imageamento por Ressonância Magnética/métodos , Edema
5.
Int J Neurosci ; 133(7): 735-739, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34425062

RESUMO

Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of extranodal lymphoma, characterized by the proliferation of neoplastic B cells within the lumen of small vessels. Due to its high aggressivity, for years the prognosis had been really poor with only anectodical cases of remission after traditional chemotherapy. More recently, new therapeutic protocols allowed a significant increase in overall survival. It can virtually involve every organ, being skin and central nervous system the most affected. The clinical presentation is often unspecific and insidious; therefore, diagnosis can be challenging. Tissue biopsy, in particular random deep skin biopsy, is the gold standard for definitive diagnosis. We describe the case of a 58-year-old woman with a previous diagnosis of myelofibrosis, who presented with a rapidly progressive neurological deterioration and a brain MRI suggestive of Progressive Multifocal Leukoencephalopathy. Due to the absence of BK and JC viruses in cerebrospinal fluid and the presence of severe myalgias and subcutaneous nodules, a skin and muscle biopsy was performed, allowing diagnosis of IVLBCL. We describe the diagnostic pitfalls of this case, briefly reviewing existing literature about IVLBCL.


Assuntos
Leucoencefalopatia Multifocal Progressiva , Linfoma Difuso de Grandes Células B , Neoplasias Cutâneas , Feminino , Humanos , Pessoa de Meia-Idade , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Linfoma Difuso de Grandes Células B/diagnóstico por imagem , Linfoma Difuso de Grandes Células B/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia
6.
Acta Biomed ; 92(S1): e2021052, 2021 04 30.
Artigo em Inglês | MEDLINE | ID: mdl-33944858

RESUMO

Migration of calcification within the bone leading to greater tuberosity osteolysis is a peculiar complication of the calcifying tendinitis of the rotator cuff. The case of a 38-year-old woman complaining of right shoulder pain, which had been going on for one year, is hereby described. The evolution of the infraspinatus tendon calcifying tendinitis leading to osteolysis of the greater tuberosity of the humerus is depicted by imaging and, particularly, by the MR and CT features changing over time. In this paper we focus on the importance of both MR and CT exams in the diagnostic process of the different phases of the disease. The correlation between clinical symptoms and imaging features is also helpful for imaging interpretation: the most painful phase corresponds to the migration of the calcification, whereas pain tends to decrease when the osteolysis develops. Awareness of the existence of this condition may prevent unnecessary invasive procedures.


Assuntos
Osteólise , Lesões do Manguito Rotador , Tendinopatia , Adulto , Feminino , Humanos , Úmero/diagnóstico por imagem , Osteólise/diagnóstico por imagem , Osteólise/etiologia , Manguito Rotador
7.
Int J Surg Pathol ; 29(8): 892-898, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33847539

RESUMO

Dedifferentiated chondrosarcoma is a well-recognized entity, but its occurrence in the distal extremities is exceedingly rare. We present the case of a 49-year-old woman who experienced local recurrence of an "enchondroma" of the proximal phalanx of the fourth finger of the left hand, which had been initially treated with intralesional curettage at another hospital 4 years before, and 1 year before for a local recurrence. The imaging findings indicated an aggressive behavior, and an incisional biopsy showed a highly cellular proliferation of spindle and pleomorphic elements without evidence of matrix production intermixed with few fragments of a well-differentiated cartilaginous neoplasm with bland cellular atypia, focal nuclear hyperchromatism, and binucleation. An isocitrate dehydrogenase 2 R172S mutation was detected. The final diagnosis was dedifferentiated chondrosarcoma. Despite amputation of the fourth finger, the patient developed lung metastases and further local relapse. Recurrent cartilaginous tumors of the extremities should not be underestimated and should be followed in view of the possible acquisition of aggressive clinical behavior.


Assuntos
Neoplasias Ósseas/diagnóstico , Condrossarcoma/diagnóstico , Dedos/patologia , Recidiva Local de Neoplasia/diagnóstico , Biópsia , Neoplasias Ósseas/patologia , Neoplasias Ósseas/cirurgia , Condrossarcoma/patologia , Condrossarcoma/cirurgia , Curetagem , Feminino , Dedos/diagnóstico por imagem , Dedos/cirurgia , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Tomografia Computadorizada por Raios X
8.
Int J Low Extrem Wounds ; 20(1): 60-66, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31996063

RESUMO

Guillain-Barré syndrome (GBS) represents an acute inflammatory immune-mediated demyelinating polyradiculoneuropathy with an incidence of 0.6 per 100 000 people. In this article, we report the case of a 19-year-old girl affected by GBS since the age of 2 who presented at our clinic complaining for a chronic plantar hindfoot-infected ulceration. Serology showed increase of inflammatory markers and leukocytosis, and magnetic resonance imaging revealed osteomyelitis of calcaneum and soft tissue alterations with air bubbles. The patient was treated in our clinic by an integrated multidisciplinary approach consisting of immediate admission, soft tissue and bone debridement, and administration of antibiotics under the close control of infectious disease specialist. After the control of acute condition, the patient underwent negative pressure therapy associated with instillation of antiseptic solution until the restoration of bone and soft tissue loss of substance and, eventually, to the application of bioactive glass substitute until the achievement of complete wound healing.


Assuntos
Síndrome de Guillain-Barré , Osteomielite , Adulto , Feminino , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Calcanhar , Humanos , Imageamento por Ressonância Magnética , Osteomielite/diagnóstico , Osteomielite/etiologia , Osteomielite/terapia , Cicatrização , Adulto Jovem
9.
Eur Radiol Exp ; 4(1): 48, 2020 08 06.
Artigo em Inglês | MEDLINE | ID: mdl-32761480

RESUMO

Ultra-high field magnetic resonance imaging (UHF-MRI) provides important diagnostic improvements in musculoskeletal imaging. The higher signal-to-noise ratio leads to higher spatial and temporal resolution which results in improved anatomic detail and higher diagnostic confidence. Several methods, such as T2, T2*, T1rho mapping, delayed gadolinium-enhanced, diffusion, chemical exchange saturation transfer, and magnetisation transfer techniques, permit a better tissue characterisation. Furthermore, UHF-MRI enables in vivo measurements by low-γ nuclei (23Na, 31P, 13C, and 39K) and the evaluation of different tissue metabolic pathways. European Union and Food and Drug Administration approvals for clinical imaging at UHF have been the first step towards a more routinely use of this technology, but some drawbacks are still present limiting its widespread clinical application. This review aims to provide a clinically oriented overview about the application of UHF-MRI in the different anatomical districts and tissues of musculoskeletal system and its pros and cons. Further studies are needed to consolidate the added value of the use of UHF-MRI in the routine clinical practice and promising efforts in technology development are already in progress.


Assuntos
Imageamento por Ressonância Magnética/métodos , Sistema Musculoesquelético/diagnóstico por imagem , Meios de Contraste , Humanos
11.
J Plast Reconstr Aesthet Surg ; 70(11): 1563-1570, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28720406

RESUMO

BACKGROUND: The distally based peroneus brevis muscle flap has proved to be a simple solution for small- to moderate-sized wounds of the lower limb. The length of the muscle belly suitable for coverage is a crucial parameter. In this study, we evaluated the capability of 3D MRI of the lower limb to measure it preoperatively. METHODS: Between 2008 and 2017, 32 patients with lower limb defects underwent preoperative MRI to measure the peroneus brevis muscle length. All patients underwent reconstruction, and the muscle was measured again intraoperatively during surgical dissection. Surgical measurements were then compared to the MRI ones. RESULTS: MRI measures of the peroneus brevis muscle belly ranged from 9 to 21 cm (µ = 14.44 ± 3.43 cm), and intraoperative measures ranged from 9 to 20 cm (µ = 14.2 ± 2.3 cm). Thirty of 32 intraoperative measures corresponded to the MRI ones (variation = ± 1 cm, r = 0.92, p = 0.002). One patient showed an intraoperative muscle length 3 cm shorter than the MRI measure, and another patient had intraoperative muscle length 3 cm longer than the MRI one. All flaps survived, and no secondary local flap coverage was required, with no flap-related complication, limited donor site morbidity, and acceptable patient discomfort. CONCLUSIONS: The reverse peroneus brevis muscle flap is a versatile alternative to free flap reconstruction in small- to moderate-sized defects of the lower limb. Preoperative 3D MRI is accurate to evaluate the anatomy of the muscle when performed by an expert radiologist. In our experience, it should become part of preoperative workup before performing a peroneus brevis flap procedure.


Assuntos
Traumatismos da Perna/cirurgia , Imageamento por Ressonância Magnética/métodos , Músculo Esquelético/anatomia & histologia , Músculo Esquelético/transplante , Retalhos Cirúrgicos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Traumatismos da Perna/diagnóstico , Masculino , Pessoa de Meia-Idade , Período Pré-Operatório , Procedimentos de Cirurgia Plástica/métodos , Estudos Retrospectivos , Fatores de Tempo , Adulto Jovem
12.
Muscle Nerve ; 54(4): 666-72, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27279002

RESUMO

INTRODUCTION: In patients with idiopathic inflammatory myopathies (IIM), magnetic resonance imaging (MRI) has been proposed as a useful tool for diagnosis and follow-up. It may identify muscle inflammation (edema) and fatty infiltration for evaluation of disease activity and damage. Little information is available on the role of MRI in assessment of large cohorts of adult patients with IIM. METHODS: Fifty-one patients underwent MRI of the thigh muscles, laboratory tests, and clinical evaluation, including Physician Global Assessment (PGA) of myositis activity and the Manual Muscle Test 8 (MMT8). RESULTS: Muscle edema correlated significantly with creatine kinase values (P = 0.017) and PGA (P < 0.001). A significant correlation between edema and MMT8 values (P = 0.025) was observed when patients with muscle fatty infiltration were excluded. With respect to clinical diagnosis, the sensitivity of MRI was 92.3%, and specificity was 83.3%. CONCLUSIONS: MRI appears to provide additional information that complements clinical and biochemical examinations. Muscle Nerve 54: 666-672, 2016.


Assuntos
Progressão da Doença , Imageamento por Ressonância Magnética/métodos , Miosite/diagnóstico por imagem , Coxa da Perna/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Edema/sangue , Edema/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/metabolismo , Miosite/sangue
13.
Pediatr Int ; 58(8): 791-4, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27325304

RESUMO

Osteoid osteoma (OO) is a benign osteogenic neoplasm, usually affecting children and young adults, that is typically characterized by nocturnal pain and response to non-steroidal anti-inflammatory drugs. OO is frequently misdiagnosed because it mimics juvenile idiopathic arthritis (JIA), bone infection or malignancy. Herein we report the case of a girl who presented with chronic monoarthritis of the knee mimicking JIA. After 1 year, OO of the femoral distal metaphysis was diagnosed. OO was treated with computed tomography-guided radiofrequency ablation with disappearance of the symptoms and resolution of the neoplasm. No recurrences have been observed 3 years after the treatment. This case highlights that intra-articular or juxta-articular OO should be suspected in the case of misleading symptoms and signs, such as swelling, lack of typical pain and synovial thickening on ultrasound; needle biopsy of the lesion is necessary in the case of confusing imaging.


Assuntos
Artrite Juvenil/diagnóstico , Neoplasias Ósseas/diagnóstico , Fêmur , Osteoma Osteoide/diagnóstico , Biópsia por Agulha , Neoplasias Ósseas/cirurgia , Ablação por Cateter , Criança , Diagnóstico Diferencial , Feminino , Humanos , Articulação do Joelho/diagnóstico por imagem , Imageamento por Ressonância Magnética , Osteoma Osteoide/cirurgia , Tomografia Computadorizada por Raios X
14.
Int J Low Extrem Wounds ; 15(2): 155-7, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27048180

RESUMO

A 72-year-old male was referred to our hospital for a plantar ulceration that had occurred many years earlier. The lesion, with exuberant granulation and large areas of necrosis and fibrin, had long been treated by plastic surgeons with no positive evolution. At admission in our hospital no ischemia was detected, and foot radiograph was negative for bone involvement. The patient underwent a foot magnetic resonance imaging, which showed high vascularization in the plantar region and early capture of the contrast medium. We then performed multiple biopsies of the ulceration that revealed a moderately differentiated squamous cell carcinoma. The total body computed tomography exam raised a systemic involvement. A lymph node biopsy and immunohistochemistry assay on the pleural cytological sample proved the presence of a primary squamous cell carcinoma of the foot with systemic dissemination. Although rare, squamous cell carcinoma could be associated with chronic nonhealing ulcers; therefore, when a lesion does not heal, despite adequate standard treatment, its etiopathogenesis should be challenged.


Assuntos
Carcinoma de Células Escamosas , Pé Diabético , Úlcera do Pé , Neoplasias Cutâneas , Idoso , Biópsia/métodos , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/fisiopatologia , Pé Diabético/patologia , Pé Diabético/fisiopatologia , Diagnóstico Diferencial , Detecção Precoce de Câncer , Úlcera do Pé/etiologia , Úlcera do Pé/patologia , Úlcera do Pé/fisiopatologia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética/métodos , Masculino , Metástase Neoplásica , Estadiamento de Neoplasias , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/fisiopatologia , Tomografia Computadorizada por Raios X/métodos
15.
Acta Myol ; 34(1): 3-8, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-26155063

RESUMO

Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD). As a consequence, exercise tolerance is affected in patients with LGMD, either as a direct consequence of the loss of muscle fibers or secondary to the sedentary lifestyle due to the motor impairment. It has been debated for many years whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders. In fact, muscular exercise would be considered in helping to hinder the loss of muscle tissue and strength. On the other hand, muscle structural defects in LGMD can result in instability of the sarcolemma, making it more likely to induce muscle damage as a consequence of intense muscle contraction, such as that performed during eccentric training. Several reports have suggested that supervised aerobic exercise training is safe and may be considered effective in improving oxidative capacity and muscle function in patients with LGMD, such as LGMD2I, LGMD2L, LGMD2A. More or less comfortable investigation methods applied to assess muscle function and structure can be useful to detect the beneficial effects of supervised training in LGMD. However, it is important to note that the available trials assessing muscle exercise in patients with LGMD have often involved a small number of patients, with a wide clinical heterogeneity and a different experimental design. Based on these considerations, resistance training can be considered part of the rehabilitation program for patients with a limb-girdle type of muscular dystrophy, but it should be strictly supervised to assess its effects and prevent possible development of muscle damage.


Assuntos
Tolerância ao Exercício , Exercício Físico , Fadiga Muscular/fisiologia , Músculo Esquelético/fisiopatologia , Distrofia Muscular do Cíngulo dos Membros/reabilitação , Feminino , Humanos , Masculino , Músculo Esquelético/lesões , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular do Cíngulo dos Membros/terapia , Mutação , Sarcolema/patologia
16.
Urology ; 83(2): 471-6, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24468516

RESUMO

OBJECTIVE: To analyze the morphologic changes visible on magnetic resonance imaging (MRI) after sling procedure in continent patients and to compare MRI findings with the incontinent ones, to detect possible factors explaining the different clinical outcomes. METHODS: Twenty-seven male patients who were treated with Advance sling for urinary stress incontinence after prostate surgery were enrolled: 16 had clinical recovery, whereas 11 had persistent incontinence. Patients after sling were defined as continent if used 0-1 dry "security pad" or incontinent >1 pad. Magnetic Resonance examinations were performed with a 3 Tesla system and included 3-dimensional T2-weighted sequence. Three readers performed a qualitative (representation of the bulb and indentation of the sling) and a quantitative analysis (length of the bulb posterior to the sling and distance of the sling from a line bisecting the pubic symphysis). RESULTS: The sling was clearly recognizable in all 16 continent patients but only in 2 of 11 incontinent ones. The length of the bulb posterior to the sling was >10 mm (range, 10-28) in all continent patients and in 2 of the incontinent ones. The sling was coincident with a line drawn through the long axis of the pubic bone in 9 of 16 continent patients. A statistically significant association was found between MRI qualitative findings and continence status (P <.0001). CONCLUSION: On the basis of our MRI results, the position of the sling and, in particular, the length of the urethral bulb posterior to the sling seem to be correlated with continence and must be considered in case of treatment failure.


Assuntos
Imageamento por Ressonância Magnética , Implantação de Prótese/métodos , Slings Suburetrais , Incontinência Urinária por Estresse/diagnóstico , Incontinência Urinária por Estresse/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
17.
Clin Nucl Med ; 39(1): 14-20, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24300347

RESUMO

PURPOSE: The objective of this study was to establish the clinical value of F-DOPA PET/CT in patients with adrenal and extra-adrenal paragangliomas (PGLs). METHODS: Twenty-six consecutive patients with suspected or recurrent PGL underwent MR (and/or CT) and F-DOPA PET/CT. Histopathology confirmation was obtained in 20 cases. Genetic analysis on known susceptibility genes for PGL (VHL, RET, SDHx, TMEM127) was available in 13 patients. RESULTS: Fourteen patients were affected by PGL (8 with head/neck location, 6 with abdominal/thoracic location), whereas 12 showed masses of other origin. Three patients proved to be SDHD, 1 SDHB, 2 SDHC, and 1 TMEM127 mutation carriers. F-DOPA PET/CT showed pathological uptake in 13 of 26 patients. The procedure identified all PGLs except one with bone metastases (previous malignant adrenal PGL). No uptake was found in patients without proven PGL. Thus, in the whole group, F-DOPA PET/CT sensitivity was 92.8%, and specificity was 100% with positive and negative predictive values of 100% and 92.3%, respectively. Total diagnostic accuracy was 96.2%. In the head/neck subgroup, sensitivity, specificity, positive and negative predictive values, and diagnostic accuracy were 100%. In the abdominal location, sensitivity was 80% and specificity was 100%, and positive and negative predictive values were 100% and 91.7%, respectively. Abdominal diagnostic accuracy was 93.7%. Radiotracer uptake was superimposable in head/neck PGLs versus abdominal PGLs and in mutated versus wild-type patients. CONCLUSIONS: The high diagnostic performance of F-DOPA PET/CT showed this technique to be a useful tool in detecting PGLs, above all those located at the head/neck site, regardless of the genetic pattern.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Di-Hidroxifenilalanina/análogos & derivados , Paraganglioma Extrassuprarrenal/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal , Adulto Jovem
18.
Head Neck ; 35(1): 23-7, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22290790

RESUMO

BACKGROUND: The purpose of this study was to investigate clinical features and prevalence of germline mutations of patients with head/neck paragangliomas. METHODS: Genetic analysis on known susceptibility genes for paragangliomas (VHL, RET, SDHB, SDHC, SDHD, and SDHAF2) was performed in 17 consecutive patients with head/neck paraganglioma (age range, 14-82 years) and 17 relatives. RESULTS: Head/neck paragangliomas were usually symptomatic with "mass effect" (88.2%), without family history (82.3%), often multifocal (41.2%), never functioning, and malignant. Germline mutations were detected in 7 of 17 patients (41%; 6 SDHD and 1 SDHB). Patients with mutations were younger, with head/neck paragangliomas usually multifocal and with higher biologic aggressiveness than wild-type subjects. To date, 4 families have been studied and the prevalence of carriers was elevated (58.8%). These mutated relatives (age range, 17-71 years) were disease-free, except 4 patients in whom multiple head/neck paragangliomas were detected. CONCLUSION: Adequate morpho-functional screening and follow-up and, if possible, genetic testing is advisable in patients with head/neck paraganglioma.


Assuntos
Estudos de Associação Genética/estatística & dados numéricos , Mutação em Linhagem Germinativa/genética , Neoplasias de Cabeça e Pescoço/genética , Paraganglioma/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Prevalência , Estudos Prospectivos , Adulto Jovem
19.
J Orthop Case Rep ; 3(3): 18-21, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-27298912

RESUMO

INTRODUCTION: The thoracic outlet syndrome (TOS) is a rare complication of clavicular fracture, occurring in 0.5-9% of cases. In the literature from 1965 - 2010, 425 cases of TOS complicating a claviclular fracture were described. However, only 5 were observed after a surgical procedure of reduction and fixation. The causes of this complication were due to the presence of an exuberant callus, to technical surgery errors or to vascular lesions. In this paper we describe a case of brachial plexus plasy after osteosynthesis of clavicle fracture. CASE REPORT: A 48 year old female, presented to us with inveterate middle third clavicle fracture of 2 months duration. She was an alcoholic, smoker with an history of opiate abuse and was HCV positive. At two month the fracture was displaced with no signs of union and open rigid fixation with plate was done. The immediate postoperative patient had signs of neurologic injury. Five days after surgery showed paralysis of the ulnar nerve, at 10 days paralysis of the median nerve, radial and ulnar paresthesias in the territory of the C5-C6-C7-C8 roots. She was treated with rest, steroids and neurotrophic drugs. One month after surgery the patient had signs of complete denervation around the brachial plexus. Implant removal was done and in a month ulnar and median nerve functions recovered. At three months post implant removal the neurological picture returned to normal. CONCLUSION: We can say that TOS can be seen as arising secondary to an "iatrogenic compartment syndrome" justified by the particular anatomy of the space cost joint. The appropriateness of the intervention for removal of fixation devices is demonstrated by the fact that the patient has returned to her daily activities in the absence of symptoms and good functional recovery in about three months, despite fracture nonunion.

20.
MAGMA ; 26(3): 325-35, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22990531

RESUMO

UNLABELLED: The objective of this study was to develop an automatic image registration technique capable of compensating for kidney motion in renal perfusion MRI, to assess the effect of renal artery stenosis on the kidney parenchyma. MATERIALS AND METHODS: Images from 20 patients scheduled for a renal perfusion study were acquired using a 1.5 T scanner. A free-breathing 3D-FSPGR sequence was used to acquire coronal views encompassing both kidneys following the infusion of Gd-BOPTA. A two-step registration algorithm was developed, including a preliminary registration minimising the quadratic difference and a fine registration maximising the mutual information (MI) between consecutive image frames. The starting point for the MI-based registration procedure was provided by an adaptive predictor that was able to predict kidney motion using a respiratory movement model. The algorithm was validated against manual registration performed by an expert user. RESULTS: The mean distance between the automatically and manually defined contours was 2.95 ± 0.81 mm, which was not significantly different from the interobserver variability of the manual registration procedure (2.86 ± 0.80 mm, P = 0.80). The perfusion indices evaluated on the manually and automatically extracted perfusion curves were not significantly different. CONCLUSIONS: The developed method is able to automatically compensate for kidney motion in perfusion studies, which prevents the need for time-consuming manual image registration.


Assuntos
Interpretação de Imagem Assistida por Computador/métodos , Angiografia por Ressonância Magnética/métodos , Reconhecimento Automatizado de Padrão/métodos , Obstrução da Artéria Renal/fisiopatologia , Artéria Renal/fisiopatologia , Circulação Renal , Técnica de Subtração , Adolescente , Adulto , Idoso , Velocidade do Fluxo Sanguíneo , Retroalimentação , Humanos , Pessoa de Meia-Idade , Artéria Renal/patologia , Obstrução da Artéria Renal/diagnóstico , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto Jovem
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