RESUMEN
We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Cromosomas Humanos 6-12 y X/genética , Translocación Genética , Trisomía/genética , Anomalías Múltiples/diagnóstico , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipo , Cariotipificación , MasculinoRESUMEN
The BPL is a part of the peripheral nervous system. Many disease processes affect the BPL. In this article, on the basis of 60 patients, we reviewed MR imaging findings of subjects with brachial plexopathy. Different varieties of BPL lesions are discussed.
Asunto(s)
Neuropatías del Plexo Braquial/patología , Imagen por Resonancia Magnética/métodos , Síndrome del Desfiladero Torácico/patología , Neuropatías del Plexo Braquial/fisiopatología , Humanos , Síndrome del Desfiladero Torácico/fisiopatologíaAsunto(s)
Neoplasias Encefálicas/patología , Imagen por Resonancia Magnética/métodos , Neurocitoma/patología , Adulto , Ventrículos Cerebrales , Preescolar , Femenino , Lóbulo Frontal/patología , Humanos , Aumento de la Imagen/métodos , Masculino , Persona de Mediana Edad , Lóbulo Parietal/patología , Silla Turca/patologíaRESUMEN
OBJECTIVE: To investigate blood flow velocity changes, pulsatility and resistivity index values of orbital vessels in Behçet's disease with or without ocular involvement (groups I and II) and healthy volunteers (group III). METHODS: Twenty-five eyes in the first group, 24 eyes in the second group and 24 eyes in the third group were examined by using color Doppler imaging. Peak systolic and end-diastolic blood flow velocity measurements, pulsatility and resistivity index values were measured in ophthalmic, central retinal, nasal and temporal ciliary arteries and the central retinal vein. RESULTS: The end-diastolic blood flow velocity measurements in all arteries were significantly higher in groups II and III than in group I, but resistivity and pulsatility indexes of all arteries were higher in group I than the other two groups. There was no significant difference in blood flow velocity of the central retinal vein in the three groups. CONCLUSION: Detection of increased vascular resistance of orbital vessels may predict the diagnosis of ocular involvement in Behçet's disease.
Asunto(s)
Síndrome de Behçet/diagnóstico por imagen , Arterias Ciliares/diagnóstico por imagen , Arteria Oftálmica/diagnóstico por imagen , Arteria Retiniana/diagnóstico por imagen , Ultrasonografía Doppler en Color , Adulto , Anciano , Síndrome de Behçet/fisiopatología , Velocidad del Flujo Sanguíneo , Arterias Ciliares/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Arteria Oftálmica/fisiopatología , Flujo Pulsátil , Arteria Retiniana/fisiopatologíaRESUMEN
The case reports of 17-year-old female dizygotic twins are presented. One of the twins had bilateral closed-lip schizencephaly, and the other had focal cortical dysplasia. Septum pellucidum was absent in both cases. The cortical dysplasia in case 2 corresponded to the same hemispheric location with the right schizencephalic cleft in case 1. The combination of schizencephaly and focal cortical dysplasia in siblings or twins has not been previously reported.
Asunto(s)
Anomalías Múltiples/diagnóstico , Encéfalo/anomalías , Corteza Cerebral/anomalías , Enfermedades en Gemelos , Gemelos Dicigóticos , Adolescente , Encéfalo/patología , Corteza Cerebral/patología , Femenino , Humanos , Imagen por Resonancia MagnéticaRESUMEN
Intraosseous lipomas are among the most uncommon bone tumors. They arise most often in the appendicular skeleton. There are very few reported cases of intraosseous lipomas within the skull bones. We report a case of intraosseous lipoma of the frontal bone with conventional radiography and CT findings.
Asunto(s)
Hueso Frontal/diagnóstico por imagen , Lipoma/diagnóstico por imagen , Neoplasias Craneales/diagnóstico por imagen , Adulto , Femenino , Humanos , RadiografíaAsunto(s)
Encefalopatías/patología , Imagen por Resonancia Magnética , Preescolar , Femenino , HumanosRESUMEN
BACKGROUND: The purpose of this study is to describe the ultrasonographic (US), computed tomographic (CT), and magnetic resonance imaging (MRI) findings in fascioliasis and to emphasize the impact of radiology in diagnosis. METHODS: Radiologic findings in 23 consecutive patients with fascioliasis were prospectively recorded. All patients had at least one US and CT examination, and 10 of them were studied by MRI. All diagnoses were confirmed by serologic methods. In the first three cases, initial diagnosis was reached by microscopic demonstration of the parasites' eggs in bile obtained by US-guided gallbladder aspiration. RESULTS: In the hepatic phase of fascioliasis, multiple, confluent, linear, tractlike, hypodense, nonenhancing hepatic lesions were detected by CT. On US, the parasites could be clearly identified in the gallbladder or common bile duct as floating and nonshadowing echogenic particles. MRI showed the lesions as hypo- or isointense on T1-weighted images and as hyperintense on T2-weighted images. CONCLUSIONS: CT findings in the hepatic phase and US findings in the biliary phase are characteristic of fascioliasis. Because clinical and laboratory findings of fascioliasis may easily be confused with several diseases, radiologists should be familiar with the specific radiologic findings of the disease to shorten the usual long-lasting diagnostic process.
Asunto(s)
Fascioliasis/diagnóstico , Adulto , Fascioliasis/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Estudios Prospectivos , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
To evaluate the efficacy of ultrasound (US) guided percutaneous sclerotherapy in the pediatric population, 14 hydatid liver cysts (HLC) in eight male patients whose ages ranged between 6 and 16 years (mean 9.9 years) were treated. The maximum diameter was 110 mm. Albendazole was administered orally to all patients for 1 week before percutaneous treatment and for 3-6 months after the procedure to prevent dissemination of the disease. Cyst puncture was performed with 20 G Chiba needles using US guidance. More than one-half of the estimated cyst volume was aspirated, then 20% hypertonic saline (7 cysts) or sterile 96% alcohol (7 cysts) equivalent to one-third of the estimated cyst volume was injected into the cavity and left for 5-15 min. Finally, all the fluid in the cavity was reaspirated. Catheterization was not performed. Follow-up US examinations were performed every month during the first 6 months and every 3 months thereafter. The follow-up period ranged between 6 and 51 months (mean 15 months). No major complications were seen during or after the procedures. Two cysts in two patients completely disappeared. Volumes of the 11 cysts in five patients who were followed for 6-21 months were markedly reduced (22%-64% of the initial volume) and thick septations and solid debris-like structures were seen within the cyst cavities. There was no significant change in 1 cyst. US-guided percutaneous sclerotherapy is thus a safe and effective treatment of HLC in children.
Asunto(s)
Albendazol/administración & dosificación , Equinococosis Hepática/terapia , Escleroterapia/métodos , Ultrasonografía Intervencional/métodos , Administración Oral , Adolescente , Niño , Terapia Combinada , Estudios de Seguimiento , Humanos , Masculino , Selección de Paciente , Escleroterapia/instrumentación , Resultado del Tratamiento , Ultrasonografía Intervencional/instrumentaciónRESUMEN
In this study, we evaluated 70 limbs in 42 women with anterior knee pain. We investigated tibial tubercle position and patellar height indices as indicators of malalignment. Tibial tubercle rotation angles were determined by computed tomography, and patellar height indicators, Insall-Salvati, modified Insall-Salvati, Caton, and Blackburne indices were calculated on lateral knee roentgenograms. The results were compared to values obtained from 80 limbs in 40 healthy female volunteers. Tibial tubercle rotation angle was 68.1 degrees (+/-3.6) in the study group and 70.3 degrees (+/-3.8) in the control group. The difference was statistically significant (P< 0. 01). Patellar height indicators were not statistically different between the two groups. These results suggested that patellar height is not a malalignment indicator in female patients with anterior knee pain. These patients should be investigated by computed tomography to determine tibial tubercle position.
Asunto(s)
Artralgia/etiología , Articulación de la Rodilla/anomalías , Rótula/anomalías , Tibia/anomalías , Adulto , Artralgia/diagnóstico por imagen , Artralgia/patología , Diagnóstico Diferencial , Femenino , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Persona de Mediana Edad , Rótula/diagnóstico por imagen , Tendones/anatomía & histología , Tendones/diagnóstico por imagen , Tibia/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
In this study, we investigated the blood flow velocity changes in orbital arteries by using Doppler sonography in eight patients with brain death. Peak-systolic and end-diastolic velocities and resistive indices of the ophthalmic and central retinal arteries were evaluated. We observed the absence or reversal of end-diastolic blood flow in these arteries. To our knowledge, this finding has not been previously reported to be associated with brain death.
Asunto(s)
Muerte Encefálica/diagnóstico por imagen , Órbita/irrigación sanguínea , Ultrasonografía Doppler Transcraneal , Adolescente , Adulto , Anciano , Velocidad del Flujo Sanguíneo/fisiología , Diástole/fisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Arteria Oftálmica/diagnóstico por imagen , Arteria Retiniana/diagnóstico por imagen , Sístole/fisiología , Resistencia Vascular/fisiologíaRESUMEN
Giant cell tumor is among the rare tumors of the bone. We present a case of metacarpal giant cell tumor with radiographic, computed tomographic (CT) and histologic findings, as well as grey scale and Doppler sonographic features. We also present the "doughnut"-shaped appearance on scintigraphy of the lesion, which has not been shown on a metacarpal giant cell tumor.
Asunto(s)
Neoplasias Óseas/diagnóstico , Tumor Óseo de Células Gigantes/diagnóstico , Metacarpo , Neoplasias Óseas/patología , Diagnóstico por Imagen , Femenino , Tumor Óseo de Células Gigantes/patología , Humanos , Metacarpo/patología , Persona de Mediana EdadRESUMEN
The aim of our study was to compare non-contrast spiral CT, US and intravenous urography (IVU) in the evaluation of patients with renal colic for the diagnosis of ureteral calculi. During a period of 17 months, 112 patients with renal colic were examined with spiral CT, US and IVU. Fifteen patients were lost to follow-up and excluded. The remaining 97 patients were defined to be either true positive or negative for ureterolithiasis based on the follow-up data. Sensitivity, specificity, positive and negative predictive value and accuracy of spiral CT, US and IVU were determined, and secondary signs of ureteral stones and other pathologies causing renal colic detected with these modalities were noted. Of 97 patients, 64 were confirmed to have ureteral calculi based on stone recovery or urological interventions. Thirty-three patients were proved not to have ureteral calculi based on failure to recover a stone and diagnoses unrelated to ureterolithiasis. Spiral CT was found to be the best modality for depicting ureteral stones with a sensitivity of 94 % and a specificity of 97 %. For US and IVU, these figures were 19, 97, 52, and 94 %, respectively. Spiral CT is superior to US and IVU in the demonstration of ureteral calculi in patients with renal colic, but because of its high cost, higher radiation dose and high workload, it should be reserved for cases where US and IVU do not show the cause of symptoms.