RESUMO
The 16p13.3p13.1 region has been reported as a "critical" hotspot region for recurrent microdeletions/duplications, which may contribute to epilepsy, learning difficulties and facial dysmorphisms. Cytogenetic and array-CGH analyses were performed because of the clinical characteristics of the patient. The girl showed de novo 16p13.3p13.13 duplication spanning a region of â¼5.3 Mb. She presented brain anomalies, intellectual disability, epilepsy, facial and vertebral dysmorphisms. To our knowledge, this is the first reported case of 16p13.3p13.13 duplication; only three patients with an overlapping deletion in 16p13.2p13.13 were previously described. The duplicated region contains 21 OMIM genes and, six of them (RBFOX1, TMEM114, ABAT, PMM2, GRIN2A and, LITAF) were found to be associated with known diseases. Although no duplication of these genes has been described in the literature, we discuss here if they had some role in determining phenotype of our patient.
Assuntos
Duplicação Cromossômica , Trissomia/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Proteína de Ligação a CREB/genética , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 16/genética , Coloboma/genética , Hibridização Genômica Comparativa , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Epilepsia/genética , Feminino , Humanos , Deficiência Intelectual/genética , Proteínas de Membrana/genética , Mosaicismo , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Proteínas Nucleares/genética , Fosfotransferases (Fosfomutases)/genética , Fatores de Processamento de RNA , Proteínas de Ligação a RNA/genética , Receptores de N-Metil-D-Aspartato/genética , Fatores de Transcrição/genéticaRESUMO
Interstitial deletions of the long arm of chromosome 1 are rare and they are classified as proximal or intermediate. The intermediate interstitial deletions span 1q24-1q32. We describe a 6-year-old girl with multiple pituitary hormone deficiency, severe cognitive impairment, bilateral cleft lip and palate, midline facial capillary malformation, erythema of hands and feet and dysplastic cranial vessels, low anti-thrombin III activity, hemifacial overgrowth due to progressive infiltrating lipomatosis with bone overgrowth, marked vascular proliferation and erythema of hands and feet, and abnormal cranial vessels. The girl's karyotype showed an apparently de novo interstitial deletion 1q24.3q31.1, which was defined by array-CGH. The deleted region contains numerous genes, but only eight (CENPL, LHX4, LAMC1, LAMC2, PTGS2, ANGPTL1, TNN, and TNR) are good candidates to explain, at least partially, the phenotype of the proposita. We, therefore, discuss the involvement of these genes and the observed phenotype.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 1 , Face/anormalidades , Face/patologia , Lipomatose/diagnóstico , Lipomatose/genética , Hipófise/anormalidades , Pré-Escolar , Bandeamento Cromossômico , Hibridização Genômica Comparativa , Fácies , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , FenótipoRESUMO
Ten cases of epilepsy with continuous spike waves in slow-wave sleep (CSWS) were evaluated using single photon emission computed tomography (SPECT); in eight patients the EEG paroxysmal abnormalities showed a predominant localization. SPECT carried out using 99mTc-HMPAO allows study of cerebral blood flow (CBF); the examination was performed during phases of drowsiness and the results compared to the EEG data. In four cases SPECT revealed areas of low CBF in sites corresponding to those of the prevalent EEG discharges; in two cases the areas of hypoperfusion did not correspond to those indicated by the EEG; lastly, in four cases SPECT results were negative. The areas of hypoperfusion were predominantly located in the frontal, temporal, and parietal regions. Furthermore, the percentage of positive SPECT results was significantly higher (five cases out of six) in the group in which the CSWS phase was prolonged for at least 1 year, compared to the group in which this phase lasted less than 1 year. Thus, in this type of epilepsy, SPECT reveals focal cortical areas of decreased CBF which correlated generally to the predominant sites of EEG abnormalities. A longer duration of the CSWS phase seems to be associated with a more significant cortical disorder, documented by the presence of areas of hypoperfusion.
Assuntos
Encéfalo/diagnóstico por imagem , Epilepsias Parciais/diagnóstico por imagem , Epilepsias Parciais/diagnóstico , Epilepsia Generalizada/diagnóstico por imagem , Epilepsia Generalizada/diagnóstico , Sono , Tomografia Computadorizada de Emissão de Fóton Único , Adolescente , Idade de Início , Encéfalo/irrigação sanguínea , Criança , Eletroencefalografia , Humanos , VigíliaRESUMO
We report the SPECT, CT and CW Doppler findings in a series of 117 patients with cerebral ischemic lesions and correlate them with the clinical findings. SPECT-PAO proved to be more sensitive in localizing focal lesions than CT, which in 50% of the cases was normal or yielded an image of cerebral atrophy. In the latter cases CW Doppler ultrasound on the supraaortic trunks showed changes, circumscribed or diffuse. On the CW Doppler and SPECT evidence we consider that the CT image of cerebral atrophy may denote an alteration of the cerebral blood flow and metabolism and should be assessed in this light in the diagnosis and prognosis of cerebral ischemic lesions.
Assuntos
Velocidade do Fluxo Sanguíneo , Isquemia Encefálica/patologia , Tomografia Computadorizada de Emissão de Fóton Único , Tomografia Computadorizada por Raios X , Adulto , Idoso , Atrofia , Encéfalo/patologia , Isquemia Encefálica/diagnóstico por imagem , Angiografia Cerebral , Transtornos Cerebrovasculares/diagnóstico por imagem , Transtornos Cerebrovasculares/patologia , Estudos de Avaliação como Assunto , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Compostos de Organotecnécio , Oximas , Técnica de Subtração , Tecnécio Tc 99m Exametazima , UltrassonografiaRESUMO
We considered 256 strains of S. aureus (SA) and S. non-aureus (SnA) of recent clinical isolation. Their susceptibility (S) or resistance (R) to pefloxacin, ciprofloxacin, enoxacin, ofloxacin (which have been used in therapy for several years) and to timentin as well, has been tested, in relation with methicillin susceptibility (MS) and methicillin resistance (MR). To date, the activity of quinolones against all staphylococci remains relatively high, notwithstanding the appearance of resistant strains, in particular among MR SnA. Of the four quinolones examined, ofloxacin showed to be the most active, i.e. effective against 100% of the staphylococci, either SA or SnA.
