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CONTEXT: Adults with Klinefelter's syndrome (KS) are known to present disturbances of language skills and delayed learning abilities. OBJECTIVES: The aim of this study was to assess brain morphometry in KS and to correlate eventual volumetric changes with performance on neuropsychological tests. PATIENTS: Patients included 18 KS adults and 20 age-matched controls. METHODS: All participants underwent prospectively double-spin-echo brain magnetic resonance imaging and neuropsychological testing of verbal and nonverbal domains. On the axial stack of magnetic resonance imaging slices, regional brain volumes were measured either by automated segmentation (full brain, total cerebrospinal fluid, and ventricular volume) or manual drawing with help of a neuroanatomy atlas (frontal, temporal, and parietal lobes, gray matter component of the lobes, cerebellar hemispheres, and hippocampal complexes). RESULTS: KS patients performed significantly lower than controls on language-related tasks exploring verbal processing speed and verbal executive function. They were diagnosed with significant enlargement of ventricular volume and bilateral reduction of cerebellar hemispheres. Furthermore, after separation of participants according to handedness and after correction of regional brain volumes for atrophy, a significant reduction of left temporal lobe volume was found in KS compared with controls. Ventricular volume was inversely correlated with cognitive function, whereas left temporal lobe volume was positively correlated with language-related tasks. CONCLUSION: This study hypothesizes that supernumerary X-chromosome and/or congenital hypogonadism provoke structural alterations in the subcortical pathways involved in language processing, thus providing a neurobiological substrate for cognitive deficits in KS.
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Encéfalo/patología , Trastornos del Conocimiento/patología , Trastornos del Conocimiento/psicología , Síndrome de Klinefelter/patología , Síndrome de Klinefelter/psicología , Adolescente , Adulto , Ventrículos Cerebrales/patología , Femenino , Lateralidad Funcional/fisiología , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Testosterona/farmacologíaRESUMEN
Five subjects with mucopolysaccharidosis type I and symptomatic cervical spinal stenosis received intrathecal laronidase in a 4-month pilot study and/or a 12-month extension study [1]. Clinical descriptions of study subjects, nonserious adverse events, individual data tables, and scoring system methods are provided. There were ten nonserious adverse events that occurred in more than one study subject. Somatosensory evoked potentials were absent in two subjects and normal in two subjects, limiting their utility as an endpoint. There were no significant changes in magnetic resonance imaging of cervical spinal cord or brain, pulmonary function tests, or cerebrospinal fluid opening pressure. These data are presented along with the scoring methods used in evaluation of the study subjects.
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INTRODUCTION: True benign thyroid masses very rarely present as a solitary lateral neck mass. Different aetiological mechanisms have been proposed for such masses. CASE REPORT: We report a case of thyroid follicular adenoma that presented as a lateral neck mass. DISCUSSION: Ectopic thyroid tissue and metastases from primary thyroid carcinoma should always be considered in the differential diagnosis of lateral neck masses. Complete investigation should include complete blood tests to characterise the orthotopic thyroid gland.
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Adenoma/diagnóstico , Coristoma/diagnóstico , Cuello/patología , Glándula Tiroides/patología , Neoplasias de la Tiroides/diagnóstico , Adenoma/patología , Adenoma/cirugía , Adulto , Biopsia con Aguja , Coristoma/patología , Coristoma/cirugía , Diagnóstico Diferencial , Embolización Terapéutica , Femenino , Humanos , Imagen por Resonancia Magnética , Pruebas de Función de la Tiroides , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía , Tomografía Computarizada por Rayos XRESUMEN
The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease. The clinical characteristics were an unusually early onset of disease (early 30s), similar to a previously reported age at onset of this mutation in an Austrian family. Distinct from that family, seizures and myoclonus were prominent features of the disease in this kindred.
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Precursor de Proteína beta-Amiloide/genética , Negro o Afroamericano/genética , Mutación Missense , Mutación Puntual , Adulto , Edad de Inicio , Sustitución de Aminoácidos , Femenino , Genes Dominantes , Humanos , Masculino , LinajeRESUMEN
OBJECTIVE: To determine whether gray scale characteristics of the solid components of cystic ovarian teratomas exist that could differentiate more common benign forms from malignant variants. METHODS: We retrospectively reviewed the sonographic images of 188 ovarian teratomas that contain at least a 25% cystic component and correlated the images with the final diagnosis. Features of the solid component assessed included its echo texture, overall appearance, shape, size, and internal homogeneity. RESULTS: One-hundred seventy-seven teratomas were benign, and 11 were malignant; among the malignant masses, 7 were high grade. Of the benign forms, 155 solid components (88%) were hyperechoic, 168 (95%) were focal in appearance, 105 (59%) were nodular in shape, and 123 (69%) were uniformly solid. Of the malignant types, 9 solid components (82%) were isoechoic, 6 (55%) had branching, 6 (55%) were irregular in shape, and 8 (73%) were uniformly solid. Five malignant teratomas (45% overall and 71% of high-grade subtypes) had branching isoechoic components. Only 2 benign teratomas (1%) had isoechoic components that branched. CONCLUSIONS: The presence of a branching isoechoic component in a cystic ovarian teratoma may suggest malignancy.