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1.
Clin Radiol ; 71(3): 203-10, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26703117

RESUMEN

AIM: To compare the multidetector-row computed tomography (MDCT) findings of IgG4-related sclerosing cholangitis (IgG4-SC) and extrahepatic cholangiocarcinoma (EH-CCA). MATERIALS AND METHODS: Two radiologists who had no knowledge of the patients' clinical information retrospectively evaluated the CT findings of patients with IgG4-SC (n=33) and EH-CCA (n=39) on a consensus basis. Another radiologist measured the biliary lesions. IgG4-SC was diagnosed using the Japan Biliary Association criteria (2012) or the Mayo Clinic's HISORt criteria. EH-CCA was diagnosed based on surgical findings. RESULTS: Compared with EH-CCA, IgG4-SC exhibited the following findings significantly more frequently: (a) wall thickening alone, (b) concentric wall thickening, (c) smooth inner margins, (d) homogeneous attenuation in the arterial phase, (e) a lesion involving the intrapancreatic bile duct, (f) smooth outer margins, (g) fully visible lumen, (h) a funnel-shaped proximal bile duct, (i) skip lesions, and (j) abnormal pancreatic findings. Conversely, (k) dual-layered attenuation in all phases was significantly more common in EH-CCA. The specificity values of parameters (e-k) were >80%. Regarding dimensions, (l) the biliary lesions were longer in IgG4-SC than in EH-CCA. (m) The diameters of the dilated proximal common bile duct and (n) the dilated proximal intrahepatic bile duct were smaller in IgG4-SC than in EH-CCA. CONCLUSION: A number of CT findings are useful for differentiating between IgG4-SC and EH-CCA. CT findings (e-k) are particularly useful for this purpose.


Asunto(s)
Neoplasias de los Conductos Biliares/diagnóstico por imagen , Conductos Biliares Extrahepáticos , Colangiocarcinoma/diagnóstico por imagen , Colangitis Esclerosante/diagnóstico por imagen , Tomografía Computarizada Multidetector/métodos , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de los Conductos Biliares/inmunología , Neoplasias de los Conductos Biliares/cirugía , Colangiocarcinoma/inmunología , Colangiocarcinoma/cirugía , Colangitis Esclerosante/inmunología , Colangitis Esclerosante/cirugía , Medios de Contraste , Diagnóstico Diferencial , Femenino , Humanos , Inmunoglobulina G/inmunología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sensibilidad y Especificidad
2.
Clin Radiol ; 67(3): 224-31, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21944774

RESUMEN

AIM: To evaluate multi-detector computed tomography (MDCT) findings of intraductal papillary neoplasm of the bile duct (IPNB), a neoplasm that is considered to be the biliary counterpart of pancreatic intraductal papillary mucinous neoplasm. MATERIALS AND METHODS: Two radiologists retrospectively evaluated multiphase contrast-enhanced CT images with 0.5 or 1mm collimation in 37 consecutive patients with resected IPNB diagnosed by a single pathologist. The CT findings were correlated with the pathological findings concerning invasion of the surrounding organs and vessels. RESULTS: All patients showed bile duct dilatation. An intraductal mass was detected in 36 patients and the following findings were observed: extensive infiltration along the bile duct more than 20mm (n=32), compared with normal hepatic parenchyma, isodense or hyperdense during the late arterial phase (n=31), not hyperdense during the portal-venous and delayed phases (n=36), and intense enhancement rim at the base of the mass during the portal-venous or delayed phase (n=27). Parenchymal invasion of the surrounding organs was seen in eight of 16 tumours showing irregular or bulging margins. Vascular invasion was false positive in four of eight tumours. CONCLUSIONS: IPNB exhibits relatively characteristic findings with multiphase contrast-enhanced examination using MDCT. A tendency to overestimate invasion of the surrounding organs and vessels was seen.


Asunto(s)
Adenocarcinoma Mucinoso/diagnóstico por imagen , Neoplasias de los Conductos Biliares/diagnóstico por imagen , Conductos Biliares Intrahepáticos/diagnóstico por imagen , Carcinoma Papilar/diagnóstico por imagen , Colangiocarcinoma/diagnóstico por imagen , Tomografía Computarizada Multidetector/métodos , Anciano , Anciano de 80 o más Años , Medios de Contraste , Dilatación Patológica/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sensibilidad y Especificidad
3.
AJNR Am J Neuroradiol ; 43(1): 48-55, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34794943

RESUMEN

BACKGROUND AND PURPOSE: Hypertension may be related to alterations of the glymphatic system, a waste metabolite drainage system in the brain. We aimed to investigate analysis along the perivascular space index changes in elderly subjects with hypertension. MATERIALS AND METHODS: Diffusion-weighted images were acquired from 126 subjects, including 63 subjects with hypertension (25 men and 38 women; mean age, 72.45 years) and 63 age- and sex-matched controls (25 men and 38 women; mean age, 72.16 years). We calculated the analysis along the perivascular space index as a ratio of the mean of x-axis diffusivities in the projection and association areas to the mean of y-axis diffusivity in the projection area and z-axis diffusivity in the association area. The left, right, and mean analysis along the perivascular space indices of both hemispheres were compared between the hypertension and control groups using a Mann-Whitney U test. The Spearman correlation coefficient was used to assess the correlation between the left, right, and mean ALPS indices and blood pressure and pulse pressure. RESULTS: The left (P = .011) and mean (P = .024) analysis along the perivascular space indices of the hypertension group were significantly lower than that of the control group. The left, right, and mean analysis along the perivascular space indices of all subjects were significantly negatively correlated with blood pressure values (r = -0.200 to -0.278, P = .002-0.046) and pulse pressure values (r = -0.221 to -0.245, P = .006-0.013). CONCLUSIONS: Our results are consistent with a model in which hypertension causes glymphatic dysfunction.


Asunto(s)
Sistema Glinfático , Hipertensión , Anciano , Imagen de Difusión por Resonancia Magnética , Imagen de Difusión Tensora/métodos , Femenino , Sistema Glinfático/diagnóstico por imagen , Humanos , Hipertensión/complicaciones , Masculino , Agua
4.
AJNR Am J Neuroradiol ; 42(7): 1320-1326, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33985956

RESUMEN

BACKGROUND AND PURPOSE: Head and neck paragangliomas have been reported to be associated with mutations of the succinate dehydrogenase enzyme family. The aim of this study was to assess whether radiologic features could differentiate between paragangliomas in the head and neck positive and negative for the succinate dehydrogenase mutation. MATERIALS AND METHODS: This single-center retrospective review from January 2015 to January 2020 included 40 patients with 48 paragangliomas (30 tumors positive for succinate dehydrogenase mutation in 23 patients and 18 tumors negative for the succinate dehydrogenase mutation in 17 patients). ADC values and tumor characteristics on CT and MR imaging were evaluated by 2 radiologists. Differences between the 2 cohorts in the diagnostic performance of ADC and normalized ADC (ratio to ADC in the medulla oblongata) values were evaluated using the independent samples t test. P < .05 was considered significant. RESULTS: ADCmean (1.07 [SD, 0.25]/1.04 [SD, 0.12] versus 1.31 [SD, 0.16]/1.30 [SD, 0.20]× 10-3 mm2/s by radiologists 1 and 2; P < .001), ADCmaximum (1.49 [SD, 0.27]/1.49 [SD, 0.20] versus 2.01 [SD, 0.16]/1.87 [SD, 0.20] × 10-3 mm2/s; P < .001), normalized ADCmean (1.40 [SD, 0.33]/1.37 [SD, 0.16] versus 1.73 [SD, 0.22]/1.74 [SD, 0.27]; P < .001), and normalized ADCmaximum (1.95 [SD, 0.37]/1.97 [SD, 0.27] versus 2.64 [SD, 0.22]/2.48 [SD, 0.28]; P < .001) were significantly lower in succinate dehydrogenase mutation-positive than mutation-negative tumors. ADCminimum, normalized ADCminimum, and tumor characteristics were not statistically significant. CONCLUSIONS: ADC is a promising imaging biomarker that can help differentiate succinate dehydrogenase mutation-positive from mutation-negative paragangliomas in the head and neck.


Asunto(s)
Paraganglioma , Adulto , Femenino , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/genética , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Paraganglioma/diagnóstico por imagen , Paraganglioma/genética , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
5.
Clin Radiol ; 65(9): 735-43, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20696301

RESUMEN

AIM: To assess the spectrum of findings using multiphase contrast-enhanced computed tomography (CT) in patients with autoimmune pancreatitis (AIP). MATERIALS AND METHODS: Fifty patients (four female and 46 male, mean age 65 years) were retrospectively identified from consecutive patients with abnormal CT findings of the pancreas and negative work-up for known causes. These patients had at least one finding supporting the diagnosis of AIP: serological abnormality, histopathological abnormality, or response to steroid. Two radiologists evaluated multiphase contrast-enhanced CT images in consensus. RESULTS: The pancreas showed diffuse enlargement (n=16; 32%), focal enlargement (n=18; 36%), or no enlargement (n=16; 32%). Forty-nine (98%) patients showed abnormal contrast enhancement in the affected pancreatic parenchyma, including hypoattenuation during the pancreatic phase (n=45; 90%) and hyperattenuation during the delayed phase (n=39; 87%). The following findings were also seen in the pancreas: a capsule-like rim (n=24; 48%); no visualization of the main pancreatic duct lumen (n=48; 96%); ductal enhancement (n=26; 52%); upstream dilatation of the main pancreatic duct (n=27; 54%); upstream atrophy of the pancreatic parenchyma (n=27; 54%); calcification (n=7; 14%); and cysts (n=5; 10%). Forty-two (84%) patients showed one or more of the following extrapancreatic findings: biliary duct or gallbladder abnormality (n=40; 80%); peripancreatic (n=8; 16%) or para-aortic (n=10; 20%) soft-tissue proliferation; and renal involvement (n=15; 30%). CONCLUSION: Patients with AIP presented with a variety of CT findings in the pancreas and the extrapancreatic organs. The present study highlights pancreatic ductal enhancement in a subset of patients with AIP.


Asunto(s)
Enfermedades Autoinmunes/diagnóstico por imagen , Medios de Contraste , Pancreatitis/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Anciano , Enfermedades Autoinmunes/patología , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patología , Pancreatitis/patología , Estudios Retrospectivos
6.
Clin Radiol ; 64(11): 1104-14, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19822244

RESUMEN

AIM: To assess the clinical, computed tomography (CT), and pathological findings in patients with lymphoplasmacytic sclerosing cholangitis. MATERIALS AND METHODS: Fifteen consecutive patients (four women and 11 men, mean age 71 years) with lymphoplasmacytic sclerosing cholangitis and without the characteristic features of underlying disorders causing benign biliary strictures were retrospectively recruited. Two radiologists evaluated multiphase contrast-enhanced CT images acquired with 0.5 or 1-mm collimation. One pathologist performed all histological examinations, including IgG4 immunostaining. RESULTS: The intrahepatic biliary ducts showed dilatation in all 15 patients, but only seven presented with jaundice. Although laboratory data were not available in all patients, serum gammaglobulin and IgG levels were elevated in five of six patients and six of eight patients, respectively. Anti-nuclear antibody was detected in three of six patients. The involved biliary ducts showed the following CT findings: involvement of the hilar biliary duct (14/15), a mean wall thickness of 4.9 mm, a smooth margin (10/15), a narrow but visible lumen (6/15), hyper-attenuation during the late arterial phase (9/15), homogeneous hyper-attenuation during the delayed phase (11/11), and no vascular invasion (14/15). Abnormal findings in the pancreas and urinary tract were detected in eight of 15 patients. In 13 patients with adequate specimens, moderate to severe lymphoplasmacytic infiltration associated with dense fibrosis was observed. Infiltration of IgG4-positive plasma cells was moderate or severe in nine patients and minimal or absent in four patients. CONCLUSION: Lymphoplasmacytic sclerosing cholangitis exhibits relatively characteristic clinical and CT findings, although they are not sufficiently specific for differentiation from other biliary diseases.


Asunto(s)
Conductos Biliares Intrahepáticos/diagnóstico por imagen , Colangitis Esclerosante/diagnóstico por imagen , Anciano , Fosfatasa Alcalina/sangre , Anticuerpos Antinucleares/sangre , Colangitis Esclerosante/patología , Medios de Contraste , Femenino , Humanos , Inmunoglobulina G/sangre , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , gammaglobulinas/análisis
7.
Adv Otorhinolaryngol ; 82: 12-31, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30947168

RESUMEN

Multidetector computed tomography has been the benchmark for visualizing bony changes of the ear, but has recently been challenged by cone-beam computed tomography. In both methods, all inner ear bony structures can be visualized satisfactorily with 2D or 3D imaging. Both methods produce ionizing radiation and induce adverse health effects, especially among children. In 3T magnetic resonance imaging, the soft tissue can be imaged accurately. Use of gadolinium chelate (GdC) as a contrast agent allows the partition of fluid spaces to be visualized, such as the bulging of basilar and Reissner's membranes. Both intravenous and intratympanic administration of GdC has been used. The development of positive endolymph imaging method, which visualizes endolymph as a bright signal, and the use of image subtraction seems to allow more easily interpretable images. This long-awaited possibility of diagnosing endolymphatic hydrops in living human subjects has enabled the definition of Hydropic Ear Disease, encompassing typical Meniere's disease as well as its monosymptomatic variants and secondary conditions of endolymphatic hydrops. The next challenge in imaging of the temporal bone is to perform imaging at the cellular and molecular levels. This chapter provides an overview of current temporal bone imaging methods and a review of emerging concepts in temporal bone imaging technology.


Asunto(s)
Enfermedades del Oído/diagnóstico por imagen , Hueso Temporal/diagnóstico por imagen , Tomografía Computarizada de Haz Cónico , Medios de Contraste , Humanos , Imagenología Tridimensional , Imagen por Resonancia Magnética , Técnica de Sustracción , Tomografía Computarizada por Rayos X
8.
J Neurol Neurosurg Psychiatry ; 79(5): 496-9, 2008 May.
Artículo en Inglés | MEDLINE | ID: mdl-17682009

RESUMEN

OBJECTIVE: The aim of this study was to evaluate cognitive impairment in patients with spinocerebellar ataxia type 6 (SCA6) and to verify the role of cerebellar involvement in intellectual abilities. METHODS: Cognitive function was examined in 18 patients with genetically confirmed SCA6 and in 21 age and education matched controls using a test battery for attention, verbal and visuospatial memory, as well as executive function. RESULTS: Verbal fluency and immediate visual memory task were markedly impaired in SCA6 compared with the control group (p = 0.007, 0.004 and 0.014, respectively). The results of the Rule Shift Cards Test was reduced in patients with SCA6, but the reduction was not significant. These cognitive dysfunctions did not correlated with CAG repeat length, age at onset, ataxic motor dysfunctional scale or depression. CONCLUSIONS: Our results demonstrate that specific cognitive deficits occur in patients with SCA6, independent of ataxic motor dysfunction. These deficits may reflect disruption of cortico-cerebellar circuits.


Asunto(s)
Trastornos del Conocimiento/diagnóstico , Pruebas Neuropsicológicas , Ataxias Espinocerebelosas/diagnóstico , Adulto , Anciano , Estudios de Casos y Controles , Corteza Cerebelosa/fisiopatología , Corteza Cerebral/fisiopatología , Trastornos del Conocimiento/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Red Nerviosa/fisiopatología , Trastornos del Habla/diagnóstico , Trastornos del Habla/fisiopatología , Ataxias Espinocerebelosas/fisiopatología , Estadística como Asunto
9.
AJNR Am J Neuroradiol ; 39(10): 1932-1937, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30213810

RESUMEN

BACKGROUND AND PURPOSE: Despite the development of neuroimaging, identification of focal cortical dysplasia remains challenging. The purpose of this study was to show the longitudinal changes of MR imaging and FDG-PET in patients with West syndrome and subtle focal cortical dysplasia. MATERIALS AND METHODS: Among 52 consecutive patients with West syndrome, 4 were diagnosed with subtle focal cortical dysplasia on 3T MR imaging. MR imaging and PET findings were evaluated longitudinally at onset and at 12 and 24 months of age. RESULTS: At the onset of West syndrome, MR imaging demonstrated focal signal abnormalities of the subcortical white matter in 2 patients. In the other 2 patients, focal subcortical high-intensity signals became visible on follow-up T2WI as myelination progressed. PET at onset showed focal cortical hypometabolism in 3 patients, with 1 of these patients also having focal hypermetabolism and 1 having normal findings. On PET at 24 months, hypometabolism persisted in 2 patients and disappeared in 1, and hypermetabolism disappeared in 1. In 1 patient with normal MR imaging and PET findings at onset, focal hyperintensity and hypometabolism first appeared at 24 months of age. The findings on MR imaging and PET in these patients evolved differently with brain maturation and the clinical course. CONCLUSIONS: Subtle focal cortical dysplasia can be undetectable on MR imaging at the onset of West syndrome and is not always accompanied by hypometabolism or hypermetabolism on PET. Longitudinal MR imaging and PET studies may be useful for detecting such lesions. Even in West syndrome with a congenital structural abnormality, PET findings evolve differently with brain maturation and the clinical condition.


Asunto(s)
Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Espasmos Infantiles/diagnóstico por imagen , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Malformaciones del Desarrollo Cortical/patología , Neuroimagen , Tomografía de Emisión de Positrones , Espasmos Infantiles/patología , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología
10.
J Clin Invest ; 99(8): 1958-65, 1997 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-9109440

RESUMEN

To understand the factors contributing to the synthesis of human apolipoprotein AI (apoAI), relative apoAI synthesis was measured from endoscopic biopsy samples obtained from 18 healthy volunteers. The relative amount of apoAI synthesis was directly correlated with steady state intestinal apoAI mRNA levels and a 10-fold within-group variability was observed. Analysis of genomic DNA from the subjects revealed five polymorphic sites which defined two haplotypes in the intestinal enhancer region of the apoAI gene located upstream of the apolipoprotein CIII gene transcriptional start site (+ 1): (-641 C to A, -630 G to A, -625 T to deletion, -482 C to T, and -455 T to C). The population frequencies of the wild-type and mutant alleles were 0.53 and 0.44, respectively. Mean steady state apoAI mRNA levels and mean relative apoAI synthesis were 49 and 37% lower, respectively, in homozygotes for the mutant allele and 28 and 41% lower, respectively, in heterozygotes than in homozygotes for the wild-type allele (P < 0.05 for both). Site-directed mutants of apoAI gene promoter/reporter constructs containing the above mutations were transfected into Caco-2 cells and showed a 46% decrease in transcriptional activity compared with the wild type (P < 0.001); however, no significant differences were observed in HepG2 cells. Electrophoretic mobility shift assays showed that the mutated sequences from -655 to -610 bound Caco-2 cell nuclear protein(s) while the wild type did not. These results indicate that intestinal apoAI gene transcription and protein synthesis are genetically determined and are reduced in the presence of common mutations which induced binding of nuclear protein(s), possibly a transcriptional repressor.


Asunto(s)
Apolipoproteína A-I/biosíntesis , Apolipoproteína A-I/genética , Apolipoproteínas C/genética , Mucosa Intestinal/metabolismo , Polimorfismo Genético , Adulto , Alelos , Apolipoproteína C-III , Secuencia de Bases , Células CACO-2 , ADN/genética , Cartilla de ADN/genética , Elementos de Facilitación Genéticos , Genotipo , Haplotipos , Heterocigoto , Homocigoto , Humanos , Desequilibrio de Ligamiento , Masculino , Datos de Secuencia Molecular , Mutación , ARN Mensajero/genética , ARN Mensajero/metabolismo
11.
AJNR Am J Neuroradiol ; 27(8): 1729-31, 2006 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-16971623

RESUMEN

We performed a detailed neuroimaging study in a patient with Parry-Romberg syndrome. Proton MR spectroscopy demonstrated normal spectral patterns, though conventional MR imaging revealed high-intensity areas in the entire white matter in the left hemisphere. Single-photon emission tomography showed increased perfusion in the cortex of the affected hemisphere. Pyramidal tracts and optic radiations were preserved on diffusion tensor tractography. We will correlate these neuroimaging findings with normal psychomotor development in our patient.


Asunto(s)
Encefalopatías/diagnóstico , Corteza Cerebral/patología , Diagnóstico por Imagen , Dominancia Cerebral/fisiología , Hemiatrofia Facial/etiología , Encefalopatías/patología , Encefalopatías/fisiopatología , Corteza Cerebral/fisiopatología , Preescolar , Imagen de Difusión por Resonancia Magnética , Hemiatrofia Facial/diagnóstico , Hemiatrofia Facial/fisiopatología , Estudios de Seguimiento , Humanos , Lactante , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Masculino , Fibras Nerviosas Mielínicas/patología , Fibras Nerviosas Mielínicas/fisiología , Vías Nerviosas/patología , Vías Nerviosas/fisiopatología , Examen Neurológico , Desempeño Psicomotor/fisiología , Valores de Referencia , Sensibilidad y Especificidad , Tomografía Computarizada de Emisión de Fotón Único , Tomografía Computarizada por Rayos X
12.
AJNR Am J Neuroradiol ; 37(4): 698-705, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26585267

RESUMEN

BACKGROUND AND PURPOSE: West syndrome is an epileptic encephalopathy characterized by epileptic spasms, a specific pattern on electroencephalography of hypsarrhythmia, and developmental regression. Our aim was to assess white matter abnormalities in West syndrome of unknown etiology. We hypothesized that diffusion tensor imaging reveals white matter abnormalities, especially in patients with poor seizure and developmental outcomes. MATERIALS AND METHODS: We enrolled 23 patients with new-onset West syndrome of unknown etiology. DTI was performed at 12 and 24 months of age. Fractional anisotropy images were compared with those of controls by using tract-based spatial statistics. We compared axial, radial, and mean diffusivity between patients and controls in the fractional anisotropy skeleton. We determined correlations of these parameters with developmental quotient, electroencephalography, and seizure outcomes. We also compared DTI with hypometabolism on fluorodeoxyglucose positron-emission tomography. RESULTS: At 12 months of age, patients showed widespread fractional anisotropy reductions and higher radial diffusivity in the fractional anisotropy skeleton with a significant difference on tract-based spatial statistics. The developmental quotient at 12 months of age correlated positively with fractional anisotropy and negatively with radial and mean diffusivity. Patients with seizure and abnormal findings on electroencephalography after initial treatments had lower fractional anisotropy and higher radial diffusivity. At 24 months, although tract-based spatial statistics did not show significant differences between patients and controls, tract-based spatial statistics in the 10 patients with a developmental quotient of <70 had significant fractional anisotropy reduction. In patients with unilateral temporal lobe hypometabolism on PET, tract-based spatial statistics showed greater fractional anisotropy reduction in the temporal lobe ipsilateral to the side of PET hypometabolism. CONCLUSIONS: Diffuse abnormal findings on DTI at 12 months of age suggest delayed myelination as a key factor underlying abnormal findings on DTI. Conversely, asymmetric abnormal findings on DTI at 24 months may reflect underlying focal pathologies.


Asunto(s)
Discapacidades del Desarrollo/patología , Convulsiones/patología , Espasmos Infantiles/patología , Sustancia Blanca/patología , Hormona Adrenocorticotrópica/metabolismo , Anisotropía , Discapacidades del Desarrollo/etiología , Imagen de Difusión Tensora , Electroencefalografía , Femenino , Fluorodesoxiglucosa F18 , Humanos , Lactante , Masculino , Tomografía de Emisión de Positrones , Radiofármacos , Convulsiones/etiología , Espasmos Infantiles/diagnóstico por imagen , Resultado del Tratamiento , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/crecimiento & desarrollo
13.
J Laryngol Otol ; 129(1): 95-7, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25572613

RESUMEN

OBJECTIVE: To report magnetic resonance imaging findings in a patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss. CASE REPORT: A 13-year-old girl had bilateral and symmetric low-frequency sensorineural hearing loss. Upon genetic testing, a heterozygous c.1105A > G (p.K369E) mutation of the SLC26A4 gene was detected. Mild endolymphatic hydrops in the right cochlea and marked endolymphatic hydrops in the left vestibulum were seen by magnetic resonance imaging 4 hours after an intravenous gadolinium injection. CONCLUSION: This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A > G (p.K369E) who had low-frequency sensorineural hearing loss. Co-occurrence of cochlear and vestibular endolymphatic hydrops suggests an association with that pathology.


Asunto(s)
Hidropesía Endolinfática/genética , Pérdida Auditiva Bilateral/genética , Pérdida Auditiva Sensorineural/genética , Proteínas de Transporte de Membrana/genética , Adolescente , Femenino , Humanos , Imagen por Resonancia Magnética , Mutación , Transportadores de Sulfato
14.
AIDS Res Hum Retroviruses ; 17(6): 569-75, 2001 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-11350671

RESUMEN

We collected blood samples from 70 HIV-1-infected pregnant women and 76 babies born to HIV-1-infected women in Japan, from 1989 to 1999. To analyze the genetic diversity of HIV-1 among mothers and children, we sequenced the C2-V3 regions of HIV-1 gp120. Phylogenetic tree analysis of these regions revealed that multiple HIV-1 subtypes, A, B, D, E, and G, were circulating among mothers and children in Japan. Thus, the genetic heterogeneity of HIV-1 among mothers and children in Japan is steadily increasing, although the number of cases remains small. Perhaps the longest term survivor, an 11-year-old child with a vertical HIV-1 subtype G infection in Japan, is one of our subjects.


Asunto(s)
Heterogeneidad Genética , Proteína gp120 de Envoltorio del VIH/genética , Infecciones por VIH/virología , VIH-1/genética , Fragmentos de Péptidos/genética , Complicaciones Infecciosas del Embarazo/virología , Secuencia de Aminoácidos , Secuencia de Bases , Niño , ADN Viral , Femenino , Infecciones por VIH/sangre , VIH-1/clasificación , Humanos , Recién Nacido , Japón , Masculino , Datos de Secuencia Molecular , Madres , Filogenia , Embarazo , Complicaciones Infecciosas del Embarazo/sangre
15.
Eur J Endocrinol ; 145(6): 697-703, 2001 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11720893

RESUMEN

BACKGROUND: Pendred syndrome is often associated with inner ear malformations, especially enlarged vestibular aqueduct (EVA). Recently, mutations in the Pendred syndrome gene (PDS) have been reported in patients with EVA, in addition to those with classical Pendred syndrome. OBJECTIVE: The aim of this study was to investigate the genotype-phenotype correlations of PDS. METHODS: Each of the 21 exons and flanking splice regions of PDS was analysed by direct DNA sequencing in nine patients with EVA; allele-specific amplification was performed to confirm the mutation. Genetic analyses were compared with thyroid function tests, perchlorate discharge tests, thyroid volume and pure-tone audiogram. Magnetic resonance imaging was used to determine the volume of the endolymphatic duct and sac of each patient. RESULTS: A missense mutation, H723R, was identified in the homozygous state in three patients and in the heterozygous state in another three. Although none of the patients had goitre, increased serum thyroglobulin and an abnormal degree of iodide release were correlated with the number of mutant alleles identified. However, there was no relationship between the degree of hearing loss and the number of mutant alleles. CONCLUSION: The present study reveals that the number of mutant alleles correlates with the degree of subclinical thyroid abnormality, but not with the degree of hearing loss in Japanese patients with the PDS missense mutation H723R.


Asunto(s)
Arginina , Proteínas Portadoras/genética , Bocio/genética , Pérdida Auditiva Sensorineural/genética , Histidina , Yodo/metabolismo , Proteínas de Transporte de Membrana , Adolescente , Adulto , Alelos , Sustitución de Aminoácidos , Niño , Conducto Endolinfático/patología , Saco Endolinfático/patología , Femenino , Bocio/complicaciones , Pérdida Auditiva Sensorineural/complicaciones , Heterocigoto , Homocigoto , Humanos , Yoduros/sangre , Imagen por Resonancia Magnética , Masculino , Mutación , Mutación Missense , Fenotipo , Empalme del ARN , Análisis de Secuencia de ADN , Transportadores de Sulfato , Síndrome , Tiroglobulina/sangre , Acueducto Vestibular/anomalías , Acueducto Vestibular/patología
17.
AJNR Am J Neuroradiol ; 20(6): 1143-7, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10445459

RESUMEN

High-resolution MR cisternography performed with 3D fast asymmetric spin-echo imaging (3D fast spin-echo with an ultra-long echo train length and asymmetric Fourier imaging) was optimized in a 0.35-T open MR imaging unit. The 0.35- and 1.5-T images of the two volunteers and three patients with acoustic schwannomas were then compared. The optimal parameters for images obtained by 3D fast asymmetric spin-echo imaging at 0.35 T were as follows: field of view, 15 cm; matrix, 256 x 256 x 40; section thickness, 1 mm; echo train length, 76; and imaging time, 10 minutes 44 seconds. Scans obtained from both normal volunteers showed the facial, cochlear, and superior and inferior vestibular nerves separately in the internal auditory canal on both 0.35- and 1.5-T images. All three acoustic schwannomas were depicted on both 0.35- and 1.5-T images. Screening for disease at the cerebellopontine angle and in the internal auditory canal, without the administration of contrast material on a low-field open MR imaging unit and within a clinically acceptable imaging time, may be possible. Further controlled prospective studies are required, however, before implementation on a wide basis. If proved effective, this may be of particular value for reducing healthcare costs and for imaging claustrophobic and pediatric patients in an open system.


Asunto(s)
Cisterna Magna/patología , Imagen por Resonancia Magnética , Neuroma Acústico/diagnóstico , Ángulo Pontocerebeloso , Oído Interno/patología , Humanos , Imagen por Resonancia Magnética/métodos , Valores de Referencia
18.
AJNR Am J Neuroradiol ; 22(6): 1179-85, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11415916

RESUMEN

BACKGROUND AND PURPOSE: MR cisternography has been used as the noninvasive screening tool of the cerebellopontine angle. The purpose of this study was to directly compare two currently dominant types of sequences for heavily T2-weighted MR cisternography. METHODS: Three-dimensional fast asymmetric spin-echo (3D-FASE) sequences, which are 3D half-Fourier rapid acquisition with relaxation enhancement and 3D constructive interference in the steady-state (3D-CISS) sequences, were compared on a clinical 1.5-T MR unit using the same scan times. In five healthy volunteers, the contrast-to-noise ratio (C/N) between CSF and the cerebellum was measured at three locations. Then, for qualitative analysis, the quality of the labyrinth was scored on the original source multiplanar reformatted images, the virtual endoscopic images, and the maximum intensity projection (MIP) images. In 20 consecutive patients with suspected cerebellopontine angle tumors, visualization of the tumors was evaluated using 3D contrast-enhanced spoiled gradient-echo imaging as the standard of reference. RESULTS: Both sequences showed comparable mean C/N values; however, in qualitative analysis, the scores for 3D-CISS on the source, virtual endoscopic, and MIP images were significantly lower than those on the images obtained with 3D-FASE, owing to more prominent flow and magnetic susceptibility artifacts on the 3D-CISS sequences. In all subjects, discontinuity of the semicircular canals was seen on the virtual endoscopic and MIP images obtained with 3D-CISS, owing to susceptibility artifacts, but not on those obtained with 3D-FASE. All 12 tumors were detected by both sequences, but 3D-CISS gave one false-positive result. CONCLUSION: 3D-FASE is considered the method of choice because artifacts are reduced and specificity is increased.


Asunto(s)
Neoplasias Cerebelosas/diagnóstico , Imagen Eco-Planar , Aumento de la Imagen , Procesamiento de Imagen Asistido por Computador , Imagenología Tridimensional , Imagen por Resonancia Magnética , Neumoencefalografía , Adulto , Artefactos , Ángulo Pontocerebeloso/patología , Acueducto Coclear/patología , Nervio Coclear/patología , Endoscopía , Femenino , Análisis de Fourier , Humanos , Masculino , Persona de Mediana Edad , Neuroma Acústico/diagnóstico , Valores de Referencia , Sensibilidad y Especificidad , Nervio Trigémino/patología , Interfaz Usuario-Computador
19.
AJNR Am J Neuroradiol ; 19(4): 739-41, 1998 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9576665

RESUMEN

We compared the image quality of the newly developed ultra-long echo train length (ETL) 3-D fast spin-echo (FSE) and half-Fourier technique, which is performed in less than 3 minutes, with the conventional 3D-FSE imaging technique, which takes 15 minutes, in assessing MR examinations of the inner ear. The new method's images were almost comparable to the conventional 3D-FSE images in depicting anatomic details and pathologic findings. Implementation of the ultra-long ETL and half-Fourier 3D-FSE imaging technique enables acquisition of inner ear MR studies in a vastly reduced time and with high spatial resolution without significant penalty, opening the possibility for low-cost screening of acoustic tumors without contrast enhancement in less than 3 minutes.


Asunto(s)
Oído Interno/patología , Imagen por Resonancia Magnética/métodos , Neoplasias del Oído/diagnóstico , Análisis de Fourier , Humanos , Procesamiento de Imagen Asistido por Computador , Neurilemoma/diagnóstico , Enfermedades Vestibulares/diagnóstico
20.
AJNR Am J Neuroradiol ; 20(5): 889-95, 1999 May.
Artículo en Inglés | MEDLINE | ID: mdl-10369362

RESUMEN

BACKGROUND AND PURPOSE: The clinical usefulness of MR cisternography of the cerebellopontine angle, applying 2D or 3D fast spin-echo sequences, has been reported recently. Our purpose was to investigate the cause of signal loss in CSF in the prepontine or cerebellopontine angle cistern on 2D FSE MR images and to compare the cisternographic effects of 2D and 3D FSE sequences. METHODS: Preliminary experiments were performed in four volunteers to assess the causes of signal loss. Initially, using a 2D cardiac-gated cine phase-contrast method with a velocity encoding value of 6 cm/s, we measured the velocity and flow pattern of CSF. Comparisons were made to assess the effects of intravoxel dephasing, amplitude of the section-selecting gradient, echo time (TE), and section thickness. Four healthy subjects and 13 patients with ear symptoms were examined, and multisection 3-mm-thick 2D images and 30-mm-slab, 1-mm-section 3D images were compared qualitatively and quantitatively. Then, 3D MR cisternography was performed in 400 patients with ear symptoms, and qualitative evaluation was performed. RESULTS: In volunteers, the average peak velocity of CSF was 1.2 cm/s. With TE = 250, CSF may move an average of 3 mm, and can be washed out of a 3-mm-thick 2D section volume. The CSF signal relative to that of a water phantom decreased gradually as TE increased on single-section 3-mm-thick 2D images. The CSF signal relative to that of the water phantom increased gradually as section thickness increased. No significant differences were noted in intravoxel dephasing and amplitude of the section-selecting gradient. The contrast-to-noise ratio (CNR) between CSF and the cerebellar peduncle, and the visibility of the cranial nerves and vertebrobasilar artery were significantly improved on 3D images in 17 subjects. In images from 400 patients, no significant signal loss in the cistern was observed using 3D FSE. CONCLUSION: CSF signal loss in thin-section 2D MR cisternography is mainly attributable to the wash-out phenomenon. 3D acquisition can reduce this phenomenon and provide thinner sections. The scan time for 3D acquisition is not excessive when a long echo train length and half-Fourier imaging are used. MR cisternography should be performed using a 3D acquisition.


Asunto(s)
Ángulo Pontocerebeloso/anatomía & histología , Imagen por Resonancia Magnética/métodos , Líquido Cefalorraquídeo/fisiología , Enfermedades del Oído/patología , Enfermedades del Oído/fisiopatología , Humanos , Procesamiento de Imagen Asistido por Computador , Fantasmas de Imagen , Valores de Referencia , Nervio Trigémino/anatomía & histología , Arteria Vertebral/anatomía & histología , Nervio Vestibulococlear/anatomía & histología
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