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1.
Rev Neurol (Paris) ; 168(6-7): 501-11, 2012 Jun.
Artigo em Francês | MEDLINE | ID: mdl-22571966
2.
Gut ; 60(5): 658-65, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21266723

RESUMO

OBJECTIVE: Reports on the accuracy of computed tomographic colonography (CTC) mainly involve series from expert institutions. The aims of this study were to assess CTC accuracy in a nationwide population and to relate it to radiologist performance in their initial training. DESIGN: Nationwide multicentre trial. SETTING: Twenty-eight radiologists, working in 26 mostly academic clinical units, were involved in the study after having attended a formal specialised 2-day training session on CTC. They worked through a training set of 52 cases with automatic feedback after an attempt at each case. PATIENTS: The study enrolled 845 patients with average and high risk of colorectal cancer, 737 of whom had both complete CTC and videocolonoscopy data, which constituted the dataset. INTERVENTIONS: Patients underwent same-day CTC followed by videocolonoscopy with segmental unblinding of CTC results. MAIN OUTCOME MEASURES: Sensitivity, specificity and positive and negative predictive values for detection of polyps ≥ 6 mm in per-patient and per-lesion analyses of CTC without computer-aided detection. RESULTS: Sensitivity, specificity and positive and negative predictive values for patients with polyps ≥ 6 mm were 69% (95% CI 61% to 77%), 91% (95% CI 89% to 94%), 67% (95% CI 59% to 74%) and 92% (95% CI 90% to 94%), respectively. Univariate analysis showed that the detection rate for polyps ≥ 6 mm was linked to neither radiologist case volume nor number of polyps, but was related to sensitivity achieved in the training set. Pooled sensitivity was 72% (95% CI 63% to 80%) versus 51% (95% CI 40% to 60%) for radiologists achieving above and below median sensitivity in the training set (61%), respectively. Multivariate analysis showed that sensitivity for polyps ≥ 6 mm in the training set was the only remaining significant predictive factor for subsequent performance. CONCLUSIONS: Radiologist sensitivity CTC for detection of polyps ≥ 6 mm in training was the sole independent predictor for subsequent sensitivity in detection of such polyps.


Assuntos
Competência Clínica , Colonografia Tomográfica Computadorizada/normas , Neoplasias Colorretais/diagnóstico por imagem , Radiologia/normas , Idoso , Pólipos do Colo/diagnóstico , Pólipos do Colo/diagnóstico por imagem , Pólipos do Colo/patologia , Colonografia Tomográfica Computadorizada/métodos , Colonoscopia , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/patologia , Educação Médica Continuada/métodos , Métodos Epidemiológicos , Feminino , França , Humanos , Masculino , Pessoa de Meia-Idade , Sangue Oculto , Radiologia/educação , Gravação em Vídeo
3.
Rev Neurol (Paris) ; 167(5): 401-7, 2011 May.
Artigo em Francês | MEDLINE | ID: mdl-21492892

RESUMO

INTRODUCTION: Episodic ataxia (EA) designates a group of autosomal dominant channelopathies that manifest as paroxysmal attacks of imbalance and incoordination. EA conditions are clinically and genetically heterogeneous. Seven types of EA have been reported so far but the majority of clinical cases result from two recognized entities. STATE OF ART: Episodic ataxia type 1 (EA1) is characterized by brief episodes of ataxia and dysarthria, and interictal myokymia. Onset occurs during the first two decades of life. Associated epilepsy has been reported in some EA1 patients. EA1 is caused by mutations of the KCNA1 gene coding for the voltage-gated potassium channel Kv1.1. Mutation is mostly missense mutations. Acetazolamide, a carbonic-anhydrase inhibitor, may reduce the frequency and severity of the attacks in some but not all affected individuals. Episodic ataxia type 2 (EA2) is characterized by episodes lasting longer than in EA1, that manifest by ataxia, dysarthria, vertigo, and also, in most of the cases, an interictal nystagmus. Other clinical features as developmental delay or epilepsy can be present in some patients. Brain MRI shows frequently a vermian atrophy. Onset occurs typically in childhood or early adolescence, but can sometimes be in adulthood. EA2 is caused by mutations in CACNA1A, a gene coding for the neuronal voltage-gated calcium channel Cav1.1. For two-thirds of the cases, mutations lead to a stop codon. This type is most often responsive to acetazolamide that reduces the frequency and severity of attacks, but does not appear to prevent the progression of interictal symptoms. PERSPECTIVES: This article summarizes current knowledge on episodic ataxia type 1 and 2 and describes briefly the other types of EA. CONCLUSION: Molecular analysis of KCNA1 or CACNA1A provides a confirmation of the diagnosis of EA1 and EA2. Other types remain rare phenotypic variants. Among them, only two genes have been identified: CACNB4 in EA5 and SLC1A3 in EA6 and mutations have been found in a very few cases. No mutation can be detected in some familial cases of episodic ataxia, suggesting further heterogeneity.


Assuntos
Degenerações Espinocerebelares , Humanos , Degenerações Espinocerebelares/diagnóstico , Degenerações Espinocerebelares/tratamento farmacológico , Degenerações Espinocerebelares/fisiopatologia
4.
Endoscopy ; 42(2): 93-7, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20140825

RESUMO

BACKGROUND AND STUDY AIM: A video capsule similar to that used in small-bowel capsule endoscopy is now available for esophageal exploration. The aim of our study was to compare the accuracy of upper endoscopy (esophageal gastroduodenoscopy [EGE]) with esophageal capsule endoscopy (ECE) in patients at risk of esophageal squamous cell cancer (SCC). PATIENTS AND METHODS: 68 patients at risk of SCC secondary to a history of head and neck neoplasia were included in this comparison of techniques for detecting SCC and dysplasia. ECE was done using the first generation Pillcam ESO and EGE was performed in accordance with the usual practice of each center, followed by examination with 2 % Lugol staining and biopsy of unstained areas (39 neoplasia comprising 5 low grade dysplasia, 8 high grade dysplasia and 26 SCC). RESULTS: Compared with EGE with and without Lugol staining, the sensitivities of ECE for neoplasia diagnosis were 46 % and 54 %, respectively. On a per-patient basis, the sensitivity, specificity, and positive and negative predictive value of ECE were 63 %, 86 %, 77 % and 76 %, respectively, compared with EGE without staining, and 61 %, 86 %, 77 % and 73 % compared with EGE with iodine staining. Neither the ECE transit time nor the distance between the esopharyngeal line and the neoplastic lesion differed between the 21 false-negative and 18 true-positive cases diagnosed by ECE; the only difference was a smaller median diameter among false negatives ( P < 0.001). CONCLUSION: In a cohort at high risk for esophageal SCC, ECE is not sensitive enough to diagnose neoplastic lesions.


Assuntos
Endoscopia por Cápsula/métodos , Carcinoma de Células Escamosas/diagnóstico , Endoscopia Gastrointestinal/métodos , Neoplasias Esofágicas/diagnóstico , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
Rev Neurol (Paris) ; 166(5): 542-6, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19945129

RESUMO

Chronic idiopathic granulomatous arteritis of the large vessels - and, specifically, "Takayasu's arteritis" and "giant cell arteritis" - is an unusual condition that rarely leads to stroke and is only occasionally associated with Crohn's disease. We report here on a unique case of a 56-year-old man with a 25-year history of Crohn's disease who also had a 4-year history of recurrent right-sided ischaemic strokes and partial seizures, and a unilateral progressive retrograde occlusion of the right internal and common carotid arteries. Biopsies of the temporal and carotid arteries showed large-vessel granulomatous arteritis, with features of both giant cell and Takayasu's arteritis.


Assuntos
Doenças das Artérias Carótidas/patologia , Doença de Crohn/patologia , Vasculite do Sistema Nervoso Central/patologia , Doenças das Artérias Carótidas/complicações , Angiografia Cerebral , Doença de Crohn/complicações , Lateralidade Funcional/fisiologia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/etiologia , Recidiva , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/patologia , Vasculite do Sistema Nervoso Central/complicações
6.
J Neurol Neurosurg Psychiatry ; 80(5): 566-8, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19372292

RESUMO

OBJECTIVE: Episodic ataxias (EA) are hereditary paroxysmal neurological diseases with considerable clinical and genetic heterogeneity. So far seven loci have been reported and four different genes have been identified. Analysis of additional sporadic or familial cases is needed to better delineate the clinical and genetic spectrum of EA. METHODS: A two generation French family with late onset episodic ataxia was examined. All consenting family members had a brain MRI with volumetric analysis of the cerebellum. Haplotype analysis was performed for the EA2 locus (19p13), the EA5 locus (2q22), the EA6 locus (5p13) and the EA7 locus (19q13). Mutation screening was performed for all exons of CACNA1A (EA2), EAAT1 (EA6) and the coding sequence of KCNA1 (EA1). RESULTS: Four family members had episodic ataxia with onset between 48 and 56 years of age but with heterogeneity in the severity and duration of symptoms. The two most severely affected had daily attacks of EA with a slowly progressive and disabling permanent cerebellar ataxia and a poor response to acetazolamide. Brain MRI showed in three affected members a decrease in the ratio of cerebellar volume:total intracranial volume, indicating cerebellar atrophy. No deleterious mutation was found in CACNA1A, SCA6, EAAT1 or KCNA1. In addition, the EA5 locus was excluded. CONCLUSIONS: A new phenotype of episodic ataxia has been described, characterised clinically by a late onset and progressive permanent cerebellar signs, and genetically by exclusion of the genes so far identified in EA.


Assuntos
Ataxia/genética , Ataxia/patologia , Acetazolamida/uso terapêutico , Idade de Início , Ataxia/tratamento farmacológico , Encéfalo/patologia , Canais de Cálcio/genética , Inibidores da Anidrase Carbônica/uso terapêutico , Éxons/genética , Feminino , Marcha Atáxica/genética , Marcha Atáxica/patologia , Haplótipos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem
7.
Gastroenterol Clin Biol ; 33(10-11 Suppl): F75-81, 2009 Oct.
Artigo em Francês | MEDLINE | ID: mdl-19733458

RESUMO

Stenosis is the most frequent complication during Crohn's disease. The lesion can be inflammatory, or due to a fibrosing or neoplastic process. The medical treatment with anti-inflammatory drugs is usually sufficient as first line treatment; fibrous lesions require endoscopic or surgical procedures while neoplastic lesions require surgery. A multidisciplinary approach (radiologic, medical, surgical and endoscopic) is needed. In a first part, we discuss the definition of stenosis and the modalities of imaging (particularly MRI) and of treatment (particularly with TNFalpha antagonists). Then we expose the strategy for the management of the most frequent clinical situations: occlusion, ileal inflammatory stenosis, stenosis of an ileocolonic anastomosis and chronic fibrous stenosis. The treatment decision takes into account the results of radiological assessment, CRP level and the effects of the previous treatments.


Assuntos
Doença de Crohn/complicações , Doença de Crohn/terapia , Doenças do Íleo/etiologia , Doenças do Íleo/terapia , Obstrução Intestinal/etiologia , Obstrução Intestinal/terapia , Laparoscopia , Doença de Crohn/diagnóstico , Diagnóstico Diferencial , Quimioterapia Combinada , Glucocorticoides/uso terapêutico , Humanos , Doenças do Íleo/diagnóstico , Imunossupressores/uso terapêutico , Obstrução Intestinal/diagnóstico , Medição de Risco , Fatores de Risco , Índice de Gravidade de Doença , Resultado do Tratamento
8.
Rev Neurol (Paris) ; 165(12): 1092-4, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19324384

RESUMO

Meningioma, though benign, may invade adjacent structures such as bone, soft tissues, dural sinuses and arteries. However brain infarctions secondary to meningioma involving the cavernous sinus and encasing and narrowing the intracranial carotid artery are rare. We report the case of a young man with recurrent left carotid artery infarctions due to a left sphenoid meningioma infiltrating the posterior optic nerve sheath through the optic canal and circumscribing the intracranial carotid artery. The patient had a gradually progressive occlusion of the middle cerebral artery, the distal internal carotid artery and finally the anterior cerebral artery ipsilateral to the sphenoid meningioma.


Assuntos
Infarto Cerebral/etiologia , Meningioma/patologia , Neoplasias do Nervo Óptico/patologia , Osso Esfenoide/patologia , Adulto , Afasia/etiologia , Artérias Carótidas/patologia , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/cirurgia , Artérias Cerebrais/patologia , Descompressão Cirúrgica , Humanos , Masculino , Microcirurgia , Neoplasias do Nervo Óptico/diagnóstico por imagem , Neoplasias do Nervo Óptico/cirurgia , Órbita/diagnóstico por imagem , Órbita/cirurgia , Recidiva , Tomografia Computadorizada por Raios X
9.
Rev Neurol (Paris) ; 165(6-7): 583-7, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19124139

RESUMO

INTRODUCTION: Cerebral amyloid angiopathy (CAA) is a common cause of intracerebral hemorrhage (ICH) particularly in elderly patients. In CAA-related hemorrhages, amyloid deposits in the brain vessel walls mainly contain amyloid beta-protein (A-beta). Rarely other forms of amyloid substances have been reported in sporadic CAA-related hemorrhages. METHODS: We report the case of a 44-year-old patient with recurrent ICH who had surgical evacuation of a large frontal hematoma. Following surgery, samples from the hematoma and adjacent cerebral cortex were obtained for histopathological examination. RESULTS: Within the recent hemorrhage, a few arteriolar walls were thickened with an amyloid deposit that was immunostained for immunoglobulin (Ig) M and light chain lambda. In the wall of some vessels, around the amyloid deposits, as well as in the adjacent cerebral cortex, there was an infiltration by monotypic lymphocytes and plasma cells expressing IgM and light chain lambda. No amyloid deposition was found outside the hemorrhage. There was no evidence of multiple myeloma, B-cell malignancy, or systemic amyloidosis. CONCLUSIONS: Recurrent ICH may be due to amyloid deposition of IgM lambda produced by monotypic proliferation of lymphocytes and plasma cells purely localized to the brain.


Assuntos
Angiopatia Amiloide Cerebral/complicações , Angiopatia Amiloide Cerebral/imunologia , Hemorragia Cerebral/etiologia , Cadeias Leves de Imunoglobulina/imunologia , Adulto , Peptídeos beta-Amiloides/genética , Atrofia , Angiopatia Amiloide Cerebral/patologia , Angiografia Cerebral , Hemorragia Cerebral/patologia , Hemorragia Cerebral/cirurgia , Olho/patologia , Angiofluoresceinografia , Humanos , Imunoglobulina M/imunologia , Cadeias lambda de Imunoglobulina/imunologia , Masculino , Infiltração de Neutrófilos , Plasmócitos/imunologia , Recidiva , Retina/patologia
10.
J Radiol ; 89(12): 1907-20, 2008 Dec.
Artigo em Francês | MEDLINE | ID: mdl-19106848

RESUMO

Pneumatosis intestinalis is a rare condition, which is defined by the presence of gas within the bowel wall. In adult patients, pneumatosis intestinalis can be depicted in various circumstances. Owing to the routine use of CT to investigate patients with abdominal pain, pneumatosis intestinalis can be seen as an incidental finding or can be observed in association with a life-threatening disease such as bowel infarction. On CT images, pneumatosis intestinalis can display two different appearances; one that has a cystic or bubbly appearance can be considered as a chronic pneumatosis and is suggestive for a benign cause while the other, which has a linear appearance can be considered as a symptom and is more frequently secondary to a life-threatening cause. However, none of these two CT characteristics can be considered pathognomonic for any of these two categories of causes. In such situations, the analysis of the location, extent and, if any, associated findings may help to differentiate between benign and life-threatening causes. In these patients who present with abdominal signs that mimic symptoms that would warrant surgical exploration, the analysis of associated findings is critical to rule out a life-threatening cause of pneumatosis intestinalis and to obviate the need for unnecessary laparotomy. In adult patients with a known specific disease such as celiac disease, chronic pseudointestinal obstruction or other chronic diseases, even with accompanying pneumoperitoneum, pneumatosis intestinalis does not uniformly mandate surgical exploration. This pictorial review presents the more and the less common pneumatosis intestinalis CT features in adult patients, with the aim of making the reader more familiar with this potentially misleading sign.


Assuntos
Pneumatose Cistoide Intestinal/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
J Neurol Neurosurg Psychiatry ; 78(2): 174-9, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17028116

RESUMO

OBJECTIVES: To report clinical characteristics, angiographical findings and results of endovascular treatment of patients presenting with dural carotid-cavernous fistulas (DCCFs). METHOD: Retrospective analysis of 27 consecutive patients with DCCF referred to a specialised interventional neuroradiology department. RESULTS: Orbital and neuro-ophthalmological symptoms were the most common clinical presentation at diagnosis (n = 25). The venous drainage of the fistula involved the ipsilateral superior ophthalmic vein in 24 patients, the contralateral cavernous sinus in 6 and a leptomeningeal vein in 5 patients. Thrombosis of at least one petrosal sinus was found in 23 patients. 7 patients did not receive endovascular treatment: 3 had spontaneous DCCF obliteration, and 4 had only minor clinical symptoms and no leptomeningeal venous drainage on an angiogram. 20 patients received endovascular treatment via either a transvenous (n = 16) or a transarterial approach (n = 4). Complete occlusion of the fistula was obtained in 14 of 16 (87%) patients treated by the transvenous approach and in 1 of 4 (25%) patients treated by the transarterial approach. 16 patients had early clinical improvement after endovascular treatment. One patient had a cerebral haemorrhage after transvenous embolisation of a DCCF with leptomeningeal drainage. On follow-up, all patients treated by the transarterial route remained symptomatic, whereas 10 of 14 (71%) patients cured by the transvenous route were asymptomatic. CONCLUSIONS: Transvenous embolisation is a safe and efficient endovascular approach to treat patients with DCCF. However, this technique requires a long learning curve.


Assuntos
Fístula Carótido-Cavernosa/diagnóstico , Fístula Carótido-Cavernosa/terapia , Embolização Terapêutica , Adulto , Idoso , Idoso de 80 Anos ou mais , Fístula Carótido-Cavernosa/patologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Trombose/etiologia , Resultado do Tratamento
12.
J Bone Miner Res ; 18(11): 1989-94, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14606511

RESUMO

UNLABELLED: The prevalence of osteoporosis was investigated in 88 patients with intestinal failure (IF). Osteoporosis was found in 67%, dependent of body mass index and age when IF occurred. In 56 patients on HPN, followed prospectively, changes in bone density were dependent on the duration of HPN; older patients had a higher increase. INTRODUCTION: It has been suggested that low bone mass and negative bone balance may occur in adult patients receiving home parenteral nutrition (HPN). The aim of this study was to assess prospectively the prevalence of osteoporosis in intestinal failure (IF) patients and the changes in bone mineral density in those on long-term HPN and to analyze the factors that may influence the occurrence and evolution of osteoporosis. MATERIALS AND METHODS: Bone mineral density was measured at the lumbar spine and femoral neck in 88 IF patients. RESULTS: At the first bone mineral density determination (baseline), the prevalence of osteoporosis was 67% in this population (median age, 52 years). Ten percent of the patients with osteoporosis experienced fragility fractures. Osteoporosis was independent of age and gender but occurred earlier in patients who had received corticosteroids. At baseline, the lumbar Z-score was positively correlated mainly to body mass index and age when IF occurred; these two parameters explained 34% of the Z-score. Repeated measurements were performed in 56 patients during long-term HPN (mean duration, 5.5 +/- 1.2 years). The changes in Z-score at the lumbar spine were dependent on the age when IF occurred and on the duration of HPN, with a synergistic effect between them. The older the patients, the higher the increase in Z-score during HPN. CONCLUSION: HPN had no deleterious effect on cortical bone and actually improved trabecular bone in patients whose intestinal disease started after the age of 21 years.


Assuntos
Osteoporose/epidemiologia , Osteoporose/etiologia , Nutrição Parenteral no Domicílio/efeitos adversos , Adolescente , Adulto , Idoso , Índice de Massa Corporal , Densidade Óssea/fisiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Enteropatias/complicações , Enteropatias/dietoterapia , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Osteoporose/complicações , Osteoporose/fisiopatologia , Prevalência , Estudos Prospectivos , Fatores de Tempo
13.
Stroke ; 32(9): 2049-54, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11546896

RESUMO

BACKGROUND AND PURPOSE: In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), water diffusion changes suggestive of microstructural tissue alterations have been recently reported in abnormal- and normal-appearing white matter as seen on T2-weighted images. In the subcortical gray matter, typical lacunar infarcts are repeatedly observed. Whether microstructural tissue changes are also present outside these lesions within the putamen or thalamus remains unknown. METHODS: We used diffusion tensor imaging, an MRI method highly sensitive to cerebral microstructure, in 20 CADASIL patients and 12 controls. Both the trace of the diffusion tensor [Tr(D)] and an anisotropic diffusion index (volume ratio) of diffusion were measured within the putamen and thalamus outside typical lacunar infarcts as detected on both T1- and T2-weighted images. RESULTS: A significant increase in Tr(D) and a decrease in anisotropy were observed in the putamen and thalamus in patients. The right/left indices of Tr(D) in the thalamus, but not in the putamen, were strongly correlated with the corresponding indices calculated in the white matter of the centrum semiovale. In addition, the diffusion increase in the thalamus was positively correlated with Tr(D) and with the load of small deep infarcts within the white matter and negatively correlated with the Mini-Mental State Examination score. CONCLUSIONS: Our results suggest that microstructural tissue alterations are present in the putamen and thalamus, outside the typical lacunar infarcts in CADASIL. In the thalamus, these microstructural changes appear constant and are even observed in asymptomatic subjects. Some of these thalamic changes appear to result from degeneration of thalamocortical pathways secondary to ischemic white matter damage. The importance of this degenerative phenomenon in the pathophysiology of CADASIL requires further investigation.


Assuntos
Demência por Múltiplos Infartos/diagnóstico , Imageamento por Ressonância Magnética/métodos , Putamen/patologia , Receptores de Superfície Celular , Tálamo/patologia , Análise de Variância , Anisotropia , Infarto Cerebral/complicações , Infarto Cerebral/diagnóstico , Demência por Múltiplos Infartos/complicações , Demência por Múltiplos Infartos/genética , Difusão , Humanos , Pessoa de Meia-Idade , Fibras Nervosas Mielinizadas/patologia , Testes Neuropsicológicos , Proteínas Proto-Oncogênicas/genética
14.
Am J Clin Nutr ; 68(6): 1276-83, 1998 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9846859

RESUMO

BACKGROUND: Breath tests are currently used to qualitatively assess colonic fermentation; no quantitative estimations are available for healthy subjects. OBJECTIVE: This study describes a stable-isotope-dilution method to measure acetate production quantitatively from colonic bacterial fermentation. DESIGN: Six volunteers received a primed, constant, intravenous infusion of [1-13C]acetate at a rate of 1.01 +/- 0.04 micromol x kg(-1) x min(-1) for 7 h. They ingested 20 g pure lactulose after 1 h of the tracer infusion. Expired air and arterialized venous blood were sampled every 15 min. RESULTS: Before lactulose intake, the breath-hydrogen concentration was 7 +/- 2 ppm and the plasma acetate concentration and isotopic enrichment were 141 +/- 14 micromol/L and 14.8 +/- 1.4 moles percent excess, respectively. Whole-body acetate turnover was 6.0 +/- 0.7 micromol x kg(-1) x min(-1). After lactulose ingestion, maximum breath hydrogen and acetate concentrations reached 63 +/- 15 ppm (P = 0.004) and 313 +/- 25 micromol/L (P = 0.002), respectively, whereas [13C]acetate enrichment decreased to 9.9 +/- 1.3 moles percent excess (P = 0.03). Whole-body acetate turnover increased to 9.8 +/- 1.5 micromol x kg(-1) x min(-1) and later decreased almost to baseline values. Colonic lactulose fermentation yielded 140 +/- 12 mmol acetate over 6 h, representing 86% of the production based on stoichiometric equations. CONCLUSION: This new method provides a quantitative estimate of colonic carbohydrate fermentation via evaluation of acetate production.


Assuntos
Acetatos/metabolismo , Bactérias/metabolismo , Colo/microbiologia , Fermentação , Lactulose/metabolismo , Acetatos/análise , Adulto , Testes Respiratórios , Isótopos de Carbono , Ácidos Graxos/sangue , Humanos , Hidrogênio/análise , Cinética , Masculino , Metano/análise
15.
Neurology ; 55(7): 1040-2, 2000 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-11061267

RESUMO

Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.


Assuntos
Canais de Cálcio/genética , Doenças Cerebelares/etiologia , Coma/etiologia , Enxaqueca com Aura/etiologia , Enxaqueca com Aura/genética , Adulto , Encéfalo/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Enxaqueca com Aura/patologia , Mutação/genética
16.
Neurology ; 54(2): 510-2, 2000 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-10668728

RESUMO

We report a reversible reduction of water diffusion in the brain during a prolonged attack of hemiplegic migraine. The patient had a sporadic mutation of the CACNA1A gene. The diffusion changes were observed in the contralateral hemisphere 3 and 5 weeks after the onset of hemiplegia. These results suggest the occurrence of hemispheric cytotoxic edema during severe attacks of hemiplegic aura. The mechanisms underlying such ultrastructural modifications are unknown but an abnormal release of excitatory amino acids can be hypothesized.


Assuntos
Canais de Cálcio/genética , Córtex Cerebral/metabolismo , Transtornos de Enxaqueca/genética , Transtornos de Enxaqueca/metabolismo , Água/metabolismo , Adulto , Córtex Cerebral/patologia , Feminino , Lateralidade Funcional , Humanos , Imageamento por Ressonância Magnética , Transtornos de Enxaqueca/patologia , Mutação
17.
Neurology ; 45(6): 1086-91, 1995 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-7783868

RESUMO

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant cerebral arteriopathy mapped to chromosome 19 and characterized mainly by recurrent subcortical ischemic strokes and extensive white-matter signal abnormalities (WMAs) on magnetic resonance imaging. Other clinical features include migraine attacks and progressive subcortical dementia. Herein, we describe several members of the same family who suffered migraine attacks, mostly with aura, associated with WMAs, segregating with an autosomal dominant pattern of inheritance. One individual had a progressive subcortical dementia with similar WMAs. Although ischemic stroke, one of the hallmarks of CADASIL, was not present in this family, we hypothesized that the present disorder resulted from an alteration of the CADASIL gene. Genetic linkage analysis, using four chromosome 19 markers spanning the CADASIL locus, supports this hypothesis.


Assuntos
Transtornos Cerebrovasculares/genética , Transtornos Cerebrovasculares/patologia , Mapeamento Cromossômico , Adulto , Infarto Cerebral/genética , Infarto Cerebral/patologia , Doenças Desmielinizantes/genética , Doenças Desmielinizantes/patologia , Feminino , Ligação Genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem
18.
Neurology ; 51(2): 452-7, 1998 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-9710018

RESUMO

OBJECTIVE: To investigate the location and severity of MRI signal abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). BACKGROUND: One hallmark of this arteriopathy due to mutations of Notch 3 gene is the presence of MRI signal abnormalities in both symptomatic and asymptomatic patients. METHODS: MRIs of 75 patients (43 with symptoms) were reviewed by a neuroradiologist masked to their clinical status. After assessing the presence of MRI lesions on T1- and T2-weighted images (T1-WI, T2-WI) in different subcortical regions, the severity of hyperintensities on T2-WI was scored using a global rating scale and a regional semiquantitative scale in the periventricular white matter (PV), deep white matter (WM), basal ganglia (BG), and infratentorial areas (IT). RESULTS: Sixty-eight patients (90%) had hyperintensities on T2-WI located in the white matter, more frequent in PV (96%) and WM (85%) than in the superficial white matter (25%). Hyperintensities also occurred in BG (60%) and brainstem (45%). Forty-seven patients (62%) presented with hypointensities on T1-WI. In one-third of the affected individuals, white matter hyperintensities occurred in the absence of small deep infarcts on T1-WI. The frequency and severity scores calculated for PV, WM, BG, or IT hyperintensities increase dramatically with age. These scores were higher in symptomatic compared with asymptomatic gene carriers. Dementia, Rankin score > 1, or both occurred only in the presence of diffuse white matter signal abnormalities. CONCLUSION: Our results suggest that different subcortical areas have different vulnerabilities to ischemia in CADASIL. The age effect we observed may show an accumulation of lesions with aging during the course of the disease. A prospective study is needed to investigate if the rating of MRI lesions is of prognostic value in CADASIL.


Assuntos
Encefalopatias/diagnóstico , Genes Dominantes , Adulto , Análise de Variância , Encefalopatias/genética , Doenças Arteriais Cerebrais/diagnóstico , Demência por Múltiplos Infartos/diagnóstico , Feminino , Humanos , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação , Fatores de Risco , Processamento de Sinais Assistido por Computador
19.
Neurology ; 52(9): 1816-21, 1999 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-10371528

RESUMO

OBJECTIVE: To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum. BACKGROUND: EA2 is an autosomal dominant disorder characterized by recurrent acetazolamide-responsive attacks of cerebellar ataxia. The mutated gene, CACNA1A, located on chromosome 19, encodes the alpha1A subunit of a voltage-dependent calcium channel. So far, only three CACNA1A mutations have been identified-in two EA2 families and in one sporadic case. These three mutations disrupted the reading frame and led to truncated proteins. Interestingly, distinct types of CACNA1A mutations have been identified in familial hemiplegic migraine (missense mutations) and spinocerebellar ataxia type 6 (SCA-6) progressive cerebellar ataxia (expanded CAG repeats). However, except for SCA-6, these genotype-phenotype correlations relied on the analysis of very few families. METHODS: To characterize CACNA1A mutations, eight familial and seven sporadic EA2 patients were selected. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis. In addition, the length of the CAG repeat has been determined in all patients. RESULTS: Seven new mutations were detected in four multiple case families and three sporadic cases. Six of them lead most likely to truncated or aberrant proteins. CAG repeat sizes were in the normal range. CONCLUSION: These data clearly establish the specificity of EA2 mutations compared with SCA-6 and familial hemiplegic migraine. Detailed clinical analysis of the mutation carriers showed the highly variable penetrance and expression of this disorder: Several of the carriers did not show any clinical symptom; others displayed atypical or permanent neurologic symptoms (such as recurrent, transient diplopia or severe, permanent, and isolated cerebellar ataxia).


Assuntos
Ataxia Cerebelar/genética , Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Mapeamento Cromossômico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem , Polimorfismo Genético , Fatores de Tempo
20.
Aliment Pharmacol Ther ; 18(4): 409-13, 2003 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-12940926

RESUMO

AIM: To evaluate the safety and long-term efficacy of per-endoscopic hydrostatic balloon dilatation in a retrospective series of patients with Crohn's disease. METHODS: Thirty-eight patients had balloon dilatation for intestinal symptomatic strictures which were located as follows: ileo-colonic (26) or colocolic (2) anastomosis, colon (4), ileum (3), proximal jejunum (1) and ileo-caecal valve (5); three patients had two strictures accessible to dilatation. The mean length of the strictures was 2.1 cm (s.d., 0.3 cm). RESULTS: Thirty-two of the 38 patients were successfully dilated and followed for a median of 22.8 months (0.2-103 months) until surgery or last news. The probabilities of obstructive symptom recurrence were 36% at 1 year and 60% at 5 years. Twelve patients had a second dilatation, and three a third. The probabilities of surgery for stricture were 26% at 1 year and 43% at 5 years. Results were not influenced by age, sex, activity of the disease, passage of the stricture by the colonoscope or concomitant medical therapies. Complications occurred in 9.4% of the 53 dilatation sessions, with only one perforation. CONCLUSIONS: Hydrostatic balloon dilatation is effective for Crohn's symptomatic strictures, and can avoid or postpone surgery, with an acceptable rate of complications.


Assuntos
Cateterismo/métodos , Doença de Crohn/terapia , Adulto , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Recidiva , Resultado do Tratamento
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