RESUMO
OBJECTIVE: To evaluate seizures as first clinical manifestation of brain arteriovenous malformations (AVMs), in relation to angioarchitectural features of these vascular anomalies. METHODS: We performed a prospective observational study, collecting records of patients with AVMs consecutively admitted to the Neurological and Neurosurgery Units of Perugia University and to the Neurosurgery Unit of Terni Hospital, during a 10-year period (1 January 2002 to 1 June 2012). Two groups of patients, with or without seizures as AVM first presentation, were analysed to identify differences in demographic and angiographic features. A multivariate logistic regression model was also developed. RESULTS: We examined 101 patients with AVMs, 55 male and 46 female. Seizures were the initial clinical manifestation in 31 (30.7%) patients. We found a significant difference (p<0.05) between two groups of patients, with or without seizures as AVM first presentation concerning location, side, topography and venous drainage. A multivariate logistic regression model showed that clinical presentation with seizures was correlated with a location in the temporal and frontal lobes, and with a superficial topography. The strongest association (OR 3.48; 95% CI 1.77 to 6.85) was observed between seizures and AVM location in the temporal lobe. CONCLUSIONS: Vascular remodelling and haemodynamic changes of AVMs might create conditions for epileptogenesis. However, here we show that malformations with specific angiographic characteristics are more likely to be associated with seizures as first clinical presentation. Location is the most important feature related to epilepsy and in particular the temporal lobe might play a crucial role in the occurrence of seizure.
Assuntos
Malformações Arteriovenosas Intracranianas/complicações , Convulsões/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Angiografia Cerebral , Criança , Eletroencefalografia , Feminino , Lobo Frontal/irrigação sanguínea , Humanos , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/fisiopatologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Convulsões/fisiopatologia , Lobo Temporal/irrigação sanguínea , Adulto JovemRESUMO
A new type of manganese-oxidizing enzyme has been identified in two alphaproteobacteria, "Aurantimonas manganoxydans" strain SI85-9A1 and Erythrobacter sp. strain SD-21. These proteins were identified by tandem mass spectrometry of manganese-oxidizing bands visualized by native polyacrylamide gel electrophoresis in-gel activity assays and fast protein liquid chromatography-purified proteins. Proteins of both alphaproteobacteria contain animal heme peroxidase and hemolysin-type calcium binding domains, with the 350-kDa active Mn-oxidizing protein of A. manganoxydans containing stainable heme. The addition of both Ca(2+) ions and H(2)O(2) to the enriched protein from Aurantimonas increased manganese oxidation activity 5.9-fold, and the highest activity recorded was 700 microM min(-1) mg(-1). Mn(II) is oxidized to Mn(IV) via an Mn(III) intermediate, which is consistent with known manganese peroxidase activity in fungi. The Mn-oxidizing protein in Erythrobacter sp. strain SD-21 is 225 kDa and contains only one peroxidase domain with strong homology to the first 2,000 amino acids of the peroxidase protein from A. manganoxydans. The heme peroxidase has tentatively been named MopA (manganese-oxidizing peroxidase) and sheds new light on the molecular mechanism of Mn oxidation in prokaryotes.
Assuntos
Alphaproteobacteria/enzimologia , Proteínas de Bactérias/metabolismo , Heme/metabolismo , Manganês/metabolismo , Peroxidase/metabolismo , Alphaproteobacteria/metabolismo , Proteínas de Bactérias/química , Proteínas de Bactérias/isolamento & purificação , Cálcio/farmacologia , Cromatografia Líquida , Eletroforese em Gel de Poliacrilamida , Ativadores de Enzimas/farmacologia , Peróxido de Hidrogênio/farmacologia , Peso Molecular , Oxirredução , Peroxidase/química , Peroxidase/isolamento & purificação , Homologia de Sequência de Aminoácidos , Espectrometria de Massas em TandemRESUMO
We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar cases of the syndrome.
Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso , Anormalidades Múltiplas/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Feminino , Dedos/anormalidades , Genes Recessivos , Humanos , Recém-Nascido , Deficiência Intelectual/genética , Síndrome , Dedos do Pé/anormalidades , Tomografia Computadorizada por Raios XRESUMO
The SEPIVAC study is a community-based epidemiological survey of incidence and outcome of transient ischaemic attacks (TIAs) and strokes in the territory of the 6th Local Health Unit, Umbria, Italy, where 49,218 people live, from 1 September 1986 to 31 August 1989. All cases were registered with the study either by notification from general practitioners (GPs) or by a check of hospital admission within the study area and in the two hospitals of Perugia. There were 94 incident cases of TIAs (45 males, 49 females), thus giving a crude rate of 0.64 per 1000 per year [95% conficence intervals (CI) 0.52/0.78]. The rate adjusted to the European population is 0.42 (CI 0.33/0.54). Mean age was 69.4 years, and females were significantly older than males. The weighted relative risk for males was 1.19 (CI 0.79/1.79). Thirty-one patients were treated at home by their GPs. Females had hypertension more frequently than males, whereas males smoked more frequently; we did not find any other statistically significant difference in the distribution of risk factors. Twelve patients out of 58 who had CT had an infarct, and 29 out of 54 submitted to Doppler ultrasonography had carotid stenosis. At 1 month, 4 patients had suffered an ischaemic stroke, 1 of whom died. At 6 months, 3 further strokes and 2 further deaths (1 due to myocardial infarction) had occurred.
Assuntos
Ataque Isquêmico Transitório/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Doenças das Artérias Carótidas/complicações , Doenças das Artérias Carótidas/diagnóstico por imagem , Constrição Patológica/complicações , Constrição Patológica/diagnóstico por imagem , Feminino , Seguimentos , Inquéritos Epidemiológicos , Humanos , Hipertensão/complicações , Incidência , Ataque Isquêmico Transitório/diagnóstico , Ataque Isquêmico Transitório/etiologia , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Recidiva , Fatores de Risco , Fumar/epidemiologia , UltrassonografiaRESUMO
Since the clinical distinction between haemorrhagic and ischaemic stroke cannot be achieved with a simple clinical evaluation, and it is virtually impossible to submit all stroke patients to CT, a weighted clinical score may offer some advantages to physicians who are involved in stroke management. The Allen score (also referred to as the Guy's Hospital score), a validated clinical score, has been tested in two different clinical settings, comprising 289 patients. When only the values under 4 and those over 24 are taken into account (i.e. greater than 90% probability of ischaemia and haemorrhage), the global accuracy of the score is 97%, and the diagnostic gain (given a pretest probability for haemorrhage of 11% and a likelihood ratio of 194) is 85%. Therefore, we conclude that this simple clinical method can be used for epidemiological studies of stroke incidence and outcome, as well as for a first bedside screening to decide which patients should have priority for CT.
Assuntos
Hemorragia Cerebral/diagnóstico , Infarto Cerebral/diagnóstico , Competência Clínica , Intervalos de Confiança , Diagnóstico Diferencial , Humanos , Funções Verossimilhança , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings. METHODS: Ten patients with well-defined clinical and biochemical diagnoses of cerebrotendinous xanthomatosis were examined. Brain CT was performed in eight cases. In all patients MR was obtained using spin-echo and gradient-echo sequences. In eight patients spine MR was also performed. RESULTS: Neuroradiologic findings included diffuse cerebral and cerebellar atrophy. In half the cases, atrophy of the brain stem and corpus callosum was also found. In the majority of patients cerebellar bilateral focal lesions and mild white matter signal alterations were present. Spinal cord MR did not show signal abnormalities or atrophy. CONCLUSIONS: We found cranial alterations in patients with severe neurologic impairment, but there was no correlation with cholestanol plasma levels. No spinal cord abnormalities were present.
Assuntos
Encefalopatias Metabólicas/diagnóstico , Imageamento por Ressonância Magnética , Doenças da Medula Espinal/diagnóstico , Tomografia Computadorizada por Raios X , Xantomatose/diagnóstico , Adulto , Atrofia , Encéfalo/patologia , Encefalopatias Metabólicas/genética , Feminino , Genes Recessivos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Medula Espinal/patologia , Doenças da Medula Espinal/genética , Xantomatose/genéticaRESUMO
One case of cystic lesion of the third ventricle is reported. The authors stress the importance of CT combined with ventriculography for the diagnosis of the intraventricular cystic lesions.
Assuntos
Encefalopatias/diagnóstico por imagem , Aqueduto do Mesencéfalo/diagnóstico por imagem , Ventriculografia Cerebral , Cistos/diagnóstico por imagem , Criança , Diagnóstico Diferencial , Humanos , Hidrocefalia/diagnóstico por imagem , Masculino , Tomografia Computadorizada por Raios XRESUMO
Under the umbrella of coeliac disease (CD), or gluten-sensitive enteropathy, the concepts of silent, latent and potential CD have recently been introduced. While silent CD is marked by severe damage to the jejunal mucosa in the absence of clinical symptoms, both latent and potential CD are characterized by jejunal mucosa that would be reported as normal by most clinical pathologists in an individual on a gluten-containing diet. As opposed to potential coeliac patients, latent subjects sometimes in their life have had a flat jejunal biopsy which recovered on a gluten-free diet. Latent coeliac patients are often symptomatic; neither high titres of gliadin antibodies nor mucosal changes (including raised intraepithelial lymphocyte counts) are obligate features of latent CD, although the presence of elevated endomysial antibodies is probably the best predictor of progression towards villous atrophy. The term potential CD has been proposed for those subjects who do not have, and have never had, a jejunal biopsy consistent with overt CD, and yet have immunological abnormalities similar to those found in coeliac patients. Good markers of potential CD include the presence of serum endomysial antibodies, a high count of intraepithelial lymphocytes and subtle pathological alteration such as increased density of intraepithelial lymphocytes expressing gamma delta T cell receptor, signs of activated mucosal cell-mediated immunity, coeliac-like intestinal antibody pattern, and positive rectal gluten challenge.
Assuntos
Doença Celíaca , Anticorpos/imunologia , Autoimunidade , Biomarcadores , Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Doença Celíaca/patologia , Criança , Suscetibilidade a Doenças , Hipersensibilidade Alimentar/diagnóstico , Hipersensibilidade Alimentar/imunologia , Hipersensibilidade Alimentar/patologia , Gliadina/imunologia , Glutens/administração & dosagem , Antígenos HLA-DQ/genética , Humanos , Imunidade Celular/efeitos dos fármacos , Imunidade Celular/fisiologia , Mucosa Intestinal/imunologia , Mucosa Intestinal/patologia , Contagem de Linfócitos , Receptores de Antígenos de Linfócitos T gama-delta , Terminologia como AssuntoRESUMO
The ureteral calculi can be treated, today in situ with extracorporeal shock wave lithotripsy. In our study we have used three different lithotriptors, two with fluoroscopic scanning, one with ultrasound scanning. The patients we have treated with ultrasound scanning lithotriptor Dornier MPL 9000 were 48 (22M-26F), while 210 patients were treated with fluoroscopic scanning lithotriptor, respectively 23 (15M-8F) with Direx Tripter XI and 187 with Dornier HM3. The ureteral calculi were so localized: among the patients treated with ultrasound scanning lithotriptor 16 presented calculi in the upper third ureter between GPU and L3, 9 in the middle third ureter between L3 and the superior border of sacroiliac articulation, 9 in pelvic tract above the spinoischiatic line, 6 between this line and juxtabladder ureter and 8 in juxtabladder ureter. Among the patients treated with fluoroscopic scanning lithotriptors all together 58 presented calculi in the upper third ureter between GPU and L3, 29 in the middle third ureter between L3 and the superior border of sacroiliac articulation, 13 in the iliac tract of the ureter, 41 in pelvic tract above the spino-ischiatic line, 27 between this line and juxtabladder ureter and 42 in juxtabladder ureter. For every treatment the number of shock waves was 2500 and the number of treatments for every patients was 1, 3. We report 82% of patients stone-free at a follow up of three months for the patients treated with the MPL 9000, 87% of patients stone-free for Direx Tripter XI and 85% of patients stone-free for Dornier HM3.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Litotripsia/métodos , Adulto , Feminino , Fluoroscopia , Humanos , Masculino , Ultrassonografia , Cálculos Ureterais/diagnóstico por imagem , Cálculos Ureterais/terapiaRESUMO
A case of a 9-year-old boy with neurofibromatosis of von Recklinghausen and precocious puberty is reported. The patient was referred to us because of an unexplained onset of precocious puberty. Clinical manifestations of neurofibromatosis included multiple café-au-lait spots, skeletal anomalies, progressive impairment of vision and precocious sexual development. CT scan and NMR demonstrated the presence of optic gliomas. The correlation between the lesions of retino-hypothalamic projection and production of the neuroendocrinology mechanism of sexual changes is discussed.
Assuntos
Neurofibromatose 1/diagnóstico , Puberdade Precoce/diagnóstico , Neoplasias Cutâneas/diagnóstico , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Neoplasias dos Nervos Cranianos/diagnóstico , Neoplasias dos Nervos Cranianos/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Neurofibromatose 1/patologia , Quiasma Óptico , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/patologia , Puberdade Precoce/patologia , Neoplasias Cutâneas/patologia , Tomografia Computadorizada por Raios XRESUMO
In the present work authors describe an unusual case of pneumosinus dilatans caused willingly by a patient himself operated on a frontal-ethmoidal mucocele. They take the opportunity to summarize what it is known about the etiopathogenesis and the form of display of this uncommon disease.
Assuntos
Seio Etmoidal/patologia , Hérnia/diagnóstico , Doenças dos Seios Paranasais/diagnóstico , Seios Paranasais/patologia , Idoso , Diplopia/patologia , Diplopia/cirurgia , Hérnia/patologia , Herniorrafia , Humanos , Masculino , Mucocele/diagnóstico , Mucocele/patologia , Mucocele/cirurgia , Doenças dos Seios Paranasais/etiologia , Doenças dos Seios Paranasais/cirurgia , Seios Paranasais/cirurgia , Tomografia Computadorizada por Raios X , Manobra de ValsalvaRESUMO
The diagnosis of cow's milk allergy or intolerance (CMAI) is based on clinical improvement on exclusion diet and relapse after challenge with milk. The aim of this work was to investigate the value of the cellobiose/mannitol (C/M) sugar permeability test, performed before and after cow's milk challenge, as a tool for the diagnosis of CMAI. Thirty-two patients underwent milk challenge at a median age of 13 months (range 3-84 months). A dual sugar (C/M) permeability test with an iso-osmolar solution was performed before and 24 h after challenge. Of the 10 patients who developed symptoms after challenge, nine showed increased postchallenge C/M ratio, whereas such an increase was observed in only one of the 22 nonrelapsed subjects. The postchallenge C/M ratio increase in relapsed subjects is to be attributed to both higher cellobiose and lower mannitol urinary excretion. These results suggest the use of the sugar permeability test, in addition to clinical observation, as an aid in the evaluation of provocation tests in infants with suspected CMAI.
Assuntos
Celobiose/farmacocinética , Mucosa Intestinal/metabolismo , Manitol/farmacocinética , Hipersensibilidade a Leite/diagnóstico , Hipersensibilidade a Leite/metabolismo , Leite/efeitos adversos , Sangue Oculto , Animais , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Teste de Tolerância a Lactose , Contagem de Leucócitos , Masculino , Leite/imunologia , Hipersensibilidade a Leite/imunologia , Neutrófilos/metabolismo , Permeabilidade , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Fatores de TempoRESUMO
The authors describe magnetic resonance imaging (MRI) findings in 15 subjects with different clinical stages of Leber's disease. A few and no characteristic abnormalities of the optic nerve signal were found. Nevertheless, MRI can be considered as a useful tool to differentiate optic neuritis together with visual and brainstem auditory evoked potentials.
Assuntos
Imageamento por Ressonância Magnética , Atrofias Ópticas Hereditárias/diagnóstico , Adolescente , Adulto , Diagnóstico Diferencial , Potenciais Evocados Visuais/fisiologia , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Atrofias Ópticas Hereditárias/genética , Nervo Óptico/patologiaRESUMO
The present report describes a case of Marfan syndrome with microphthalmia, facial and cerebral hemiatrophy and oligophrenia. This association has never previously been described in patients with Marfan disease.
Assuntos
Ossos Faciais/anormalidades , Deficiência Intelectual/complicações , Síndrome de Marfan/complicações , Microftalmia/complicações , Crânio/anormalidades , Adolescente , Humanos , Masculino , Síndrome de Marfan/diagnóstico por imagem , Microftalmia/diagnóstico por imagem , Radiografia , Crânio/diagnóstico por imagemRESUMO
This study looked at the effect of extra dietary gluten on the intestinal architecture of both normal mice and those with an ongoing mucosal delayed hypersensitivity reaction. BDF1 normal mice and mice in which a graft v host reaction (GvHR) had been induced, both weaned on gluten free diet, were allocated for three weeks to three different dietary regimens: gluten free, 'normal' (3.6% gluten), and gluten enriched (15.8% gluten). In normal mice receiving the gluten containing diet, shorter villi, deeper crypts, and higher crypt cell production rate were noted when compared with those receiving gluten free diet: these changes were more pronounced in those receiving the gluten enriched diet. GvHR mice showed shorter villi and an increase in both crypt length and crypt cell production rate when compared with normal mice, but the presence of gluten in their diet did not produce additional damage. Both in normal and in GvHR mice receiving gluten containing diet there were no signs of systemic (cell mediated or humoral) or mucosal immune reactions (raised intraepithelial lymphocyte counts or enhanced epithelial Ia expression) to gliadin. In conclusion, increasing the dietary gluten content produces significant changes in the mucosal architecture of normal mice; mice with GvHR enteropathy do not show additional damage resulting from dietary gluten.
Assuntos
Proteínas Alimentares/administração & dosagem , Glutens/administração & dosagem , Reação Enxerto-Hospedeiro , Mucosa Intestinal/patologia , Animais , Biometria , Feminino , Gliadina/imunologia , Hipersensibilidade Tardia/patologia , Jejuno/ultraestrutura , Contagem de Leucócitos , Linfócitos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos DBA , MicrovilosidadesRESUMO
Fifteen children with an initial diagnosis of coeliac disease underwent gluten challenge either because they had never had a jejunal biopsy or because they had had one during the first 2 years of life. The challenge was preceded by a biopsy; clinical symptoms, the cellobiose/mannitol permeability test, and gliadin and endomysial antibody measurement were used to determine the timing of the confirmatory biopsy: it was performed if one test result was repeatedly abnormal or two results were concomitantly abnormal. Gliadin antibodies increased early (already 7 days after the reintroduction of gluten to the diet), but in many cases they returned to normal values thereafter. Increased intestinal permeability to sugars and even more positivity of endomysial antibody were good predictors of histologic relapse. The sequential use of laboratory tests during gluten challenge may significantly shorten its duration.
Assuntos
Doença Celíaca/diagnóstico , Gliadina/imunologia , Glutens , Imunoglobulinas/análise , Absorção Intestinal , Músculos/imunologia , Autoanticorpos/análise , Doença Celíaca/imunologia , Doença Celíaca/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Imunoglobulina A/análise , Imunoglobulina G/análise , Masculino , Permeabilidade , RecidivaRESUMO
Selective deficit of verbal output not associated to other anomalies of language, represents a syndrome in which articulatory as well as linguistic aspects can be independently affected. The critical lesion for pure articulatory deficit appears to involve left prerolandic cortico-subcortical structures. Nevertheless, in relation to individual differences in cerebral organization, damage in these structures can be responsible for a simultaneous deficit of articulatory and linguistic mechanisms.
Assuntos
Afasia de Broca/complicações , Afasia/complicações , Transtornos da Articulação/complicações , Afasia de Broca/patologia , Transtornos da Articulação/patologia , Córtex Cerebral/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , SíndromeRESUMO
OBJECTIVES: To describe the Gottfries-Bråne-Steen (GBS) Rating Scale more fully with instruments commonly used for the diagnostic assessment of older patients with cognitive disturbances--the Mini Mental State Examination (MMSE), Hamilton Depression Rating Scale (HDRS), and Global Deterioration Scale (GDS)--and to characterize the specific diagnostic value of the GBS. DESIGN: A multicenter study including patients diagnosed with senile dementia of the Alzheimer type (SDAT; age at onset: > 75 years) and age-matched non-demented subjects. SUBJECTS: One hundred thirty-eight consecutively referred SDAT patients and 116 non-demented age-matched healthy subjects selected from among relatives of the patients. METHODS: The MMSE, GBS and HDRS were used for assessing patients and controls. The GDS was utilized for dementia staging. FINDINGS: Principal component analysis carried out on GBS scores yielded three factors explaining 74% of variance: factor 1, general functioning; factor 2, depression, and factor 3, restlessness. The actual composition of these factors was analyzed after computing factor scores for each subject by means of forward selection regressions, each using the MMSE, GDS and HDRS as predictors of scores on a given factor. The best predictors were MMSE and GDS scores for factor 1; HDRS for factor 2, and MMSE for factor 3. A GBS cutoff of 8 (obtained after a quality receiver operating characteristic analysis) best discriminated between demented and non-demented subjects (positive-predictive value: 0.88; negative-predictive value: 0.90). CONCLUSIONS: The GBS Rating Scale for dementia can be a useful tool in routine clinical assessment of older subjects with cognitive impairment and distinguishes between demented and non-demented subjects; it gives comprehensive information on functional and psychobehavioral characteristics of demented patients, being composed of factors related to the MMSE and HDRS.
Assuntos
Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Escalas de Graduação Psiquiátrica , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/complicações , Feminino , Humanos , Transtornos Mentais/etiologiaRESUMO
We report a case of bilateral orbital sarcoidosis without other systemic lesions. Steroid therapy did not improve the clinical status of the patient.