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Pan Afr Med J ; 33: 242, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692794


The sciatic nerve is the terminal branch of the sacral plexus. Sciatalgia is a nerve root pain. In most cases, sciatica originates from degenerative disc disease. Tumor involving the sciatic nerve is extremely rare. We here report the case of a 33-year old patient with nerve tumor detected on MRI performed for drug-resistant sciatica. Tumor involving the sciatic nerve is rare and diagnosis is difficult. MRI data are crucial for establishing an effective surgical approach.

Imagem por Ressonância Magnética/métodos , Neurilemoma/diagnóstico por imagem , Neurofibroma/diagnóstico por imagem , Nervo Isquiático/diagnóstico por imagem , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Nervo Isquiático/patologia , Ciática/diagnóstico
Nat Genet ; 49(2): 249-255, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28067911


Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.

Atresia das Cóanas/genética , Proteínas Cromossômicas não Histona/genética , Microftalmia/genética , Mutação de Sentido Incorreto/genética , Nariz/anormalidades , Animais , Linhagem Celular , Pré-Escolar , Epigênese Genética/genética , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Distrofia Muscular Facioescapuloumeral/genética , Xenopus laevis/genética
Pan Afr Med J ; 28: 192, 2017.
Artigo em Francês | MEDLINE | ID: mdl-29599890


Moya moya disease is an angiogenic disease characterized by the narrowing of the distal internal carotid artery extending to the proximal segments of the middle and anterior cerebral arteries, inducing collateral vessels formation. These vessels come from the collateral parenchymal vessels, the perforating vessels, leptomeningeal vessels and other transdural anastomoses. These collateral vessels have a characteristic appearance on angiography, forming a cloud of smoke: net-like moyamoya. Its etiology is still poorly understood. Moyamoya disease accounts for 10-15% of the causes of stroke, with 2 age peaks at which its occurrence is more frequent: children around 5 years old and adults around 40 years old. Its evolution can be slow with intermittent symptoms or fulminant with fast neurological deterioration. The current data show the role of surgery as the gold standard for the treatment of moyamoya syndrome, in particular in patients with progressive and recurrent symptoms.

Isquemia Encefálica/etiologia , Doença de Moyamoya/complicações , Acidente Vascular Cerebral/etiologia , Isquemia Encefálica/patologia , Artéria Carótida Interna/patologia , Pré-Escolar , Humanos , Masculino , Doença de Moyamoya/fisiopatologia , Acidente Vascular Cerebral/patologia
Int Orthod ; 12(1): 111-24, 2014 Mar.
Artigo em Inglês, Francês | MEDLINE | ID: mdl-24156908


INTRODUCTION: The masticatory muscles play an important part in determining the morphology of the facial skeleton. Skeletal typology and the characteristics of the masticatory muscles are closely linked. Several authors have studied muscle characteristics as related to facial typology. The aim of this work is to study the relationship between vertical and transverse skeletal dimensions and the dimensions (length, width and thickness) of two muscles of mastication, the masseter and the lateral pterygoid. MATERIALS AND METHOD: Our study was based on CT-scan examinations of a sample composed of patients consulting the X-ray department of the Rabat-Salé Teaching Hospital, and for whom a CT-scan had been requested. Forty CT examinations of the skull, performed in the context of sinus explorations or pre-surgical work-ups in the radiology department of the Rabat-Salé Teaching Hospital, were selected for this study. The sample comprised 19 women and 21 men aged between 20 and 45, with a mean of 40.9 ± 12.8. A Siemens 32-row 64-slice spiral CT-scan device was used for spiral acquisition of data around the facial bones, with the mouth closed. The study was carried out in the parenchymal window for the muscle measurements, in the axial and coronal planes. Bone measurements were performed after 3D reconstruction in VRT mode. RESULTS: Our study showed that, for the masseter muscle, thickness is the dimension that correlates significantly with skeletal dimensions in the vertical, transverse and sagittal directions. For the lateral pterygoid muscle, length and width both present significant correlations with transverse skeletal dimensions. Analysis of these results shows that the dimensional characteristics of the masticatory muscles vary according to the vertical and transverse skeletal typology of the subjects concerned.

Ossos Faciais/anatomia & histologia , Músculo Masseter/anatomia & histologia , Músculos Pterigoides/anatomia & histologia , Adolescente , Adulto , Cefalometria/métodos , Queixo/anatomia & histologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Masculino , Mandíbula/anatomia & histologia , Pessoa de Meia-Idade , Osso Nasal/anatomia & histologia , Crânio/anatomia & histologia , Tomografia Computadorizada Espiral/métodos , Tomografia Computadorizada por Raios X/métodos , Dimensão Vertical , Adulto Jovem , Zigoma/anatomia & histologia