Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 44
Filtrar
1.
J Endocrinol Invest ; 33(6 Suppl): 26-9, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21057182

RESUMO

The skeletal dysplasias are a group of genetic disorders affecting skeletal development and maintenance, usually manifesting in childhood with disproportionate short stature. Although individually rare, they are not infrequent as a group. An accurate diagnosis is crucial for prevention and/or treatment of complications, estimate of child's growth, and proper genetic counseling. Radiology is the mainstay of diagnosis. Recognition of single radiographic signs or patterns of anomalies is required to reach the correct diagnosis. The radiographic features of Leri-Weill syndrome and Langer mesomelic dwarfism, two skeletal dysplasias caused by a defect in the short stature homeobox-containing gene, are briefly discussed.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Transtornos do Crescimento/diagnóstico por imagem , Osteocondrodisplasias/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Feminino , Transtornos do Crescimento/genética , Proteínas de Homeodomínio/genética , Humanos , Masculino , Mutação/genética , Osteocondrodisplasias/genética , Radiografia , Proteína de Homoeobox de Baixa Estatura
2.
Radiol Med ; 109(5-6): 563-72, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15973231

RESUMO

PURPOSE: Diffuse axonal injury (DAI) is a common type of primary neuronal injury in patients with severe traumatic brain injury, and is frequently accompanied by tissue tear haemorrhage. The T2*-weighted gradient-recalled echo (GRE) sequences are more sensitive than T2-weighted spin-echo images for detection of haemorrhage. This study was undertaken to determine whether turbo-PEPSI, an extremely fast multi-echo-planar-imaging sequence, can be used as an alternative to the GRE sequence for detection of DAI. MATERIALS AND METHODS: Nineteen patients (mean age 24,5 year) with severe traumatic brain injury (TBI), occurred at least 3 months earlier, underwent a brain MRI study on a 1.5-Tesla scanner. A qualitative evaluation of the turbo-PEPSI sequences was performed by identifying the optimal echo time and in-plane resolution. The number and size of DAI lesions, as well as the signal intensity contrast ratio (SI CR), were computed for each set of GRE and turbo-PEPSI images, and divided according to their anatomic location into lobar and/or deep brain. RESULTS: There was no significant difference between GRE and turbo-PEPSI sequences in the total number of DAI lesions detected (283 vs 225 lesions, respectively). The GRE sequence identified a greater number of hypointense lesions in the temporal lobe compared to the t-PEPSI sequence (72 vs 35, p<0.003), while no significant differences were found for the other brain regions. The SI CR was significantly better (i.e. lower) for the turbo-PEPSI than for the GRE sequence (p<0.00001). CONCLUSIONS: Owing to its very short scan time and high sensitivity to the haemorrhage foci, the turbo-PEPSI sequence can be used as an alternative to the GRE to assess brain DAI in severe TBI patients, especially if uncooperative and medically unstable.

3.
Mult Scler ; 10(5): 556-61, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15471373

RESUMO

In an attempt to clarify whether T1 relaxation time mapping may assist in characterizing the pathological brain tissue substrate of multiple sclerosis (MS), we compared the T1 relaxation times of lesions, areas of normal-appearing white matter (NAWM) located proximal to lesions, and areas of NAWM located distant from lesions in 12 patients with the relapsing-remitting and 12 with the secondary progressive (SP) subtype of disease. Nine healthy volunteers served as controls. Calculated mean T1 values were averaged across all patients within each clinical group, and comparisons were made by means of the Mann-Whitney U-test. Significant differences were found between all investigated brain regions within each clinical subgroup. Significant differences were also detected for each investigated brain region among clinical subgroups. While T1 values of NAWM were significantly higher in patients with SP disease than in normal white matter (NWM) of controls, no differences were detected when corresponding brain areas of patients with RR MS were compared with NWM of controls. T1 maps identify areas of the brain that are damaged to a different extent in patients with MS, and may be of help in monitoring disease progression.


Assuntos
Imageamento por Ressonância Magnética/métodos , Esclerose Múltipla Crônica Progressiva/patologia , Esclerose Múltipla Recidivante-Remitente/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética/normas , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
Magn Reson Imaging ; 21(10): 1151-7, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14725922

RESUMO

To study the sensitivity of intermolecular double quantum coherences (iDQc) imaging contrast to brain microstructure and brain anisotropy, we investigated the iDQC contrast between differently structured areas of the brain according to the strength and the direction of the applied correlation gradient. Thus diffusion-weighted imaging (DWI) and diffusion tensor imaging (DTI) maps have been obtained. This procedure, which consists of analyzing both iDQc and DWI images at different gradient strength and gradient direction, could be a promising tool for clinical brain investigations performed with higher than 1.5 T magnetic fields.


Assuntos
Encéfalo/anatomia & histologia , Imagem de Difusão por Ressonância Magnética , Anisotropia , Humanos
6.
Magn Reson Imaging ; 20(8): 623-9, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12467872

RESUMO

In vivo multiple spin echoes (MSE) images of bone marrow in trabecular bone were obtained for the first time on a clinical 1.5 T scanner. Despite of a reduced sensitivity of the MSE trabecular bone images with respect to the cerebral matter ones, it is possible to observe some features in the MSE trabecular bone images that may be useful in the diagnosis of osteopenic states. Two different CRAZED-type MSE imaging sequences based on spin-echo and EPI imaging modalities were applied in phantom and in vivo. Preliminary experimental results indicate that EPI imaging readout seems to conceal the MSE contrast correlated with pore dimension in porous media. However it is still possible to detect anisotropy effects related to the bone structure in MSE-EPI images. Some strategies are suggested to optimize the quality of MSE trabecular bone images.


Assuntos
Medula Óssea/ultraestrutura , Imagem Ecoplanar , Fêmur/anatomia & histologia , Adulto , Imagem Ecoplanar/instrumentação , Imagem Ecoplanar/métodos , Feminino , Humanos , Masculino , Imagens de Fantasmas , Sensibilidade e Especificidade
7.
Neuroradiology ; 44(9): 764-7, 2002 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12221449

RESUMO

We studied five patients with multiple sclerosis with one plaque of demyelination more than 2 cm in diameter, using conventional and diffusion-weighted MRI, soon after the onset of symptoms and over 1-36 months. The orientationally averaged diffusion coefficient was increased in all the acute lesions, and increased further during follow-up in three. There was a strong correlation between and the degree of low signal on T1-weighted images. The quantitative information provided by allowed delineation of different diffusion patterns in large MS lesions, that may reflect heterogeneity of the anatomical substrate.


Assuntos
Encéfalo/patologia , Imagem de Difusão por Ressonância Magnética , Esclerose Múltipla/patologia , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
8.
Am J Med Genet ; 99(4): 289-93, 2001 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-11251995

RESUMO

We report on a 5(1/2) year-old Italian girl with a distinctive form of metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. The pattern of metaphyseal changes and the associated bony abnormalities differentiate this patient from all the recognized forms of metaphyseal chondrodysplasia.


Assuntos
Doenças das Cartilagens/diagnóstico , Osteocondrodisplasias/diagnóstico , Amilases/metabolismo , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Pré-Escolar , Diagnóstico Diferencial , Saúde da Família , Feminino , Humanos , Osteocondrodisplasias/diagnóstico por imagem , Pâncreas/enzimologia , Radiografia
11.
AJNR Am J Neuroradiol ; 21(5): 862-8, 2000 May.
Artigo em Inglês | MEDLINE | ID: mdl-10815661

RESUMO

BACKGROUND AND PURPOSE: Conventional MR imaging does not provide specific information that can be reliably associated with the pathologic substrate and clinical status of patients with multiple sclerosis (MS). Our goals were 1) to determine whether the orientationally averaged water diffusion coefficient () can be used to distinguish between plaques of different severity in these patients and 2) to assess possible correlations between values and disease duration, Expanded Disability Status Scale (EDSS) score, and signal intensity on T1-weighted MR images. METHODS: Twenty patients (10 with relapsing-remitting MS and 10 with secondary-progressive MS) and 11 healthy volunteers underwent a combined conventional and diffusion-weighted MR study of the brain. , a parameter that is proportional to the trace of the diffusion tensor, was computed by averaging the apparent diffusion coefficients measured in the x, y, and z directions. measurements were obtained for selected areas of white matter plaques. Differences in among the three groups were tested using analysis of variance. RESULTS: was significantly higher (1.445 +/- 0.129 x 10(-3) mm2/s) in secondary-progressive lesions than in relapsing-remitting lesions (0.951 +/- 0.08), and both values were higher than in normal white matter (0.732 +/- 0.02). There was a significant negative correlation between and the degree of hypointensity on T1-weighted images, and a positive correlation between and both EDSS score and disease duration. CONCLUSION: Our findings suggest that is useful for distinguishing MS lesions of different severities, which are associated with different degrees of clinical disability.


Assuntos
Encéfalo/patologia , Aumento da Imagem , Imageamento por Ressonância Magnética , Esclerose Múltipla Crônica Progressiva/diagnóstico , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Bainha de Mielina/patologia , Adolescente , Adulto , Difusão , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Reprodutibilidade dos Testes
12.
Clin Dysmorphol ; 8(1): 73-5, 1999 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10327257

RESUMO

A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder.


Assuntos
Blefaroptose/patologia , Encéfalo/anormalidades , Catarata/patologia , Coloboma/patologia , Transtornos da Pigmentação/patologia , Sindactilia/patologia , Anormalidades Múltiplas/patologia , Adulto , Face/anormalidades , Humanos , Masculino , Síndrome
13.
Am J Med Genet ; 84(1): 68-73, 1999 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-10213049

RESUMO

We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.


Assuntos
Osso e Ossos/anormalidades , Transtornos do Crescimento/genética , Determinação da Idade pelo Esqueleto , Osso e Ossos/diagnóstico por imagem , Calcificação Fisiológica/genética , Criança , Consanguinidade , Feminino , Fíbula/anormalidades , Fíbula/diagnóstico por imagem , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/genética , Humanos , Osteogênese/genética
14.
Radiol Med ; 98(6): 490-4, 1999 Dec.
Artigo em Italiano | MEDLINE | ID: mdl-10755010

RESUMO

PURPOSE: Computed tomography (CT) and, more recently, ultrasound (US), have proved excellent tools for quantifying adipose tissue distribution. Body fat distribution is an important factor in the treatment of obesity and its complications. We investigated the correlation between CT and US measurements in pediatric obesity. MATERIAL AND METHODS: Forty obese children and adolescents aged 4.1-14.8 years were submitted to CT and US. Intra-abdominal, subcutaneous and total body fat were calculated (in cm2), with the CT image analysis software. The rectus muscle-spine and rectus muscle-aorta distances, as indicative of visceral fat thickness, were measured on US images with(out) compression. The distance between skin-fat and fat-rectus muscle interfaces was measured as subcutaneous fat thickness. We also compared US-CT findings with other morphometric variables--i.e., patient's (ideal) body weight and skin fold measures. RESULTS: At US, the rectus muscle-aorta and rectus muscle-spine distances ranged 2.4-7.5 cm (mean: 4.47 cm) and 3.6-8.9 cm (mean: 5.79 cm), respectively. The skin-rectus muscle distance ranged 1.2-7.5 cm (mean: 3.14 cm). A statistically significant correlation was found between the CT measurement of visceral fat and the aorta-rectus muscle and rectus muscle-spine distances (r = 0.80 and 0.74, respectively). The US measurements of subcutaneous fat were correlated with CT subcutaneous fat area (r = 0.82). No correlation was found between overweight, as calculated by body mass index, and CT or US fat. CONCLUSION: Our findings indicate that US is as useful as CT in evaluating body fat distribution in pediatric obesity.


Assuntos
Abdome/diagnóstico por imagem , Tecido Adiposo/diagnóstico por imagem , Obesidade/diagnóstico , Radiografia Abdominal , Tomografia Computadorizada por Raios X , Ultrassonografia , Adolescente , Criança , Pré-Escolar , Estudos de Avaliação como Assunto , Feminino , Humanos , Masculino , Radiografia Abdominal/instrumentação , Radiografia Abdominal/métodos , Radiografia Abdominal/estatística & dados numéricos , Tomografia Computadorizada por Raios X/instrumentação , Tomografia Computadorizada por Raios X/métodos , Tomografia Computadorizada por Raios X/estatística & dados numéricos , Ultrassonografia/instrumentação , Ultrassonografia/métodos , Ultrassonografia/estatística & dados numéricos
15.
G Ital Cardiol ; 28(9): 1012-6, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9788040

RESUMO

A 36 year-old woman with a history of asthenia and palpitations was admitted to the Cardiac Surgery Department of Tor Vergata University, in Rome. Physical examination revealed short stature, depressed nasal bridge, hypertelorism, hypoacusia, pectus excavatum, diffuse brachydactyly, clinodactyly of the second digit of both the right hand and left foot. A 3/6 holosystolic increasing-decreasing murmur on the pulmonary focus was present at cardiac auscultation. Echocardiogram and cardiac catheterization revealed an ostium secundum atrial septal defect. X-ray examination of the hands exhibited shortening of the third, fourth and fifth metacarpals, shortening of the distal phalanges, shortening of the proximal and middle phalanges of the fifth digits and cone epiphysis of the middle phalanx of the second digits. Radiograph of the feet revealed shortening of the third and fourth and metatarsals on the left side, bilateral shortening of the first metatarsals and of the distal phalanges, cone epiphyses at the proximal base of the first toes. Additional radiographic findings included pectus excavatum and narrowing of the spinal canal. Laboratory investigations disclosed increased plasma levels of parathormone and hypocalcemia. The patient underwent primary closure of the atrial septal defect on cardiopulmonary bypass. Radiographic findings supported the diagnosis of Albright's hereditary osteodystrophy. This is a skeletal malformation involving type I-A pseudohypoparathyroidism and so-called pseudo-pseudohypoparathyroidism. Coexistence of hypocalcemia and high levels of parathormone indicated that our patient was affected with type I-A. About one-fourth of congenital heart diseases are associated with extracardiac anomalies. Although skeletal malformations appear to be the most frequent, the association of a congenital heart defect with Albright's hereditary osteodystrophy has never been described before.


Assuntos
Displasia Fibrosa Poliostótica/complicações , Comunicação Interatrial/complicações , Adulto , Cálcio/sangue , Cateterismo Cardíaco , Feminino , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Pé/diagnóstico por imagem , Mãos/diagnóstico por imagem , Comunicação Interatrial/diagnóstico por imagem , Humanos , Hipertelorismo/complicações , Hormônio Paratireóideo/sangue , Radiografia , Coluna Vertebral/diagnóstico por imagem , Ultrassonografia
16.
Neuroreport ; 9(9): 2141-6, 1998 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-9674609

RESUMO

The anatomical and functional correlates of the hand sensorimotor areas was investigated in a stroke patient with a malacic lesion in the left fronto-parieto-temporal cortex. The patient presented hemiplegia and motor aphasia 12 months earlier, followed by an excellent motor recovery. Transcranial magnetic stimulation mapping, functional magnetic resonance and magnetoencephalography were used as methods of functional imaging and all yielded consistent results. In particular, an asymmetrical enlargement and posterior shift of the sensorimotor areas localized in the affected hemisphere were found with all three techniques. Aspects related to brain 'plasticity' for functional recovery are discussed.


Assuntos
Transtornos Cerebrovasculares/patologia , Mãos/inervação , Córtex Motor/patologia , Transtornos Cerebrovasculares/fisiopatologia , Campos Eletromagnéticos , Mãos/fisiologia , Humanos , Imageamento por Ressonância Magnética , Magnetoencefalografia , Córtex Motor/fisiopatologia , Plasticidade Neuronal/fisiologia
17.
Skeletal Radiol ; 27(5): 271-7, 1998 May.
Artigo em Inglês | MEDLINE | ID: mdl-9638838

RESUMO

OBJECTIVE: To compare the performance of a new sonographic (US) method of bone age estimation with other methods currently in use. DESIGN AND PATIENTS: One hundred and fifteen subjects underwent left hand/wrist radiography and US examination of the hip for bone age assessment. For each patient, measurements of skeletal age were available based on Greulich-Pyle and Tanner and Whitehouse, the latter being presented in three subtypes (RUS, carpals, and B20) in addition to the US values. To assess agreement between methods, each method was compared with every other method. Differences between calculated skeletal age and chronological age were assessed, and the sensitivity, specificity, and predictive values of each method computed. RESULTS: Coupled B20/RUS values showed the best agreement, with 95% of observations within 2.45 years of each other, followed by carpals/B20, B20/GP, and GP/RUS. The US method agreed the least (difference of 4.19-5.13 years) with the other methods. The US method provided 85.8% (US vs RUS) to 91.3% (US vs GP) concordant results in recognizing differences between skeletal and chronological age, and showed a 72.5% sensitivity and a 56.8% specificity. CONCLUSION: Although the US method promises to permit a safe and cost-effective assessment of skeletal age, its low accuracy makes it currently unsuitable for clinical use.


Assuntos
Determinação da Idade pelo Esqueleto/métodos , Cartilagem Articular/diagnóstico por imagem , Cabeça do Fêmur/diagnóstico por imagem , Adolescente , Adulto , Ossos do Carpo/diagnóstico por imagem , Criança , Pré-Escolar , Análise Custo-Benefício , Feminino , Transtornos do Crescimento/diagnóstico por imagem , Mãos/diagnóstico por imagem , Humanos , Lactente , Masculino , Metacarpo/diagnóstico por imagem , Valor Preditivo dos Testes , Rádio (Anatomia)/diagnóstico por imagem , Segurança , Sensibilidade e Especificidade , Ulna/diagnóstico por imagem , Ultrassonografia , Punho/diagnóstico por imagem
18.
J Med Genet ; 34(10): 854-6, 1997 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9350822

RESUMO

A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe immune system dysfunction. This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.


Assuntos
Articulações/anormalidades , Deformidades Congênitas dos Membros , Osteocondrodisplasias , Imunodeficiência Combinada Severa , Feminino , Humanos , Lactente , Luxações Articulares , Vértebras Lombares/anormalidades , Osteocondrodisplasias/diagnóstico por imagem , Radiografia
19.
Am J Med Genet ; 69(4): 418-21, 1997 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-9098494

RESUMO

We report on a further case of Goldenhar complex with uncommon and clinically remarkable associated anomalies. This additional case increases the number of observations and descriptions of patients with "expanded Goldenhar complex." Pathogenetic aspects are discussed.


Assuntos
Anormalidades Múltiplas , Síndrome de Goldenhar , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Evolução Fatal , Feminino , Síndrome de Goldenhar/diagnóstico por imagem , Síndrome de Goldenhar/genética , Síndrome de Goldenhar/patologia , Deformidades Congênitas da Mão , Humanos , Lactente , Radiografia , Coluna Vertebral/anormalidades , Ultrassonografia
20.
Br J Haematol ; 96(2): 254-5, 1997 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9029008

RESUMO

A thalassaemic girl presented with agranulocytosis, arthritis of both ankles and clinical and laboratory features consistent with the diagnosis of systemic vasculitis, during oral iron chelator L1 (deferiprone) treatment. Changes in the humoral and cell-mediated immune function. including antinuclear antibodies (ANA), anti-DNA and extractable-nuclear antigens (ENA) antibodies positivity, increased immunoglobulin values, decreased T suppressor and the presence of circulating immune complexes, suggest a cause-and-effect relationship with the observed clinical manifestations. A careful monitoring of the immune function is recommended in patients who are receiving the oral iron chelator L1.


Assuntos
Agranulocitose/induzido quimicamente , Artrite/induzido quimicamente , Piridonas/efeitos adversos , Vasculite/induzido quimicamente , Talassemia beta/tratamento farmacológico , Adulto , Deferiprona , Feminino , Humanos , Piridonas/administração & dosagem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...