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García-Cazorla A Sans A Baquero M García-Bargo MD Arellano M Poo P Gean E Campistol J 《Developmental medicine and child neurology》2004,46(3):148-153
White matter alterations in chromosomal disorders have been reported mainly in 18q-syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal abnormalities detected through conventional cytogenetic techniques. Forty-four patients with chromosomal abnormalities, excluding trisomy 21, were diagnosed in our hospital between May 1999 and December 2002 (24 males, 20 females; mean age 6 years 4 months [SD 3 years 2 months], range 0 to 18 years). Of the 44 patients, 14 had brain magnetic resonance imaging (12 males, 2 females; mean age 4 years 2 months [SD 4 years 4 months]; five with sex chromosomal disorders [SCD] and nine with autosomal chromosomal disorders [ACD]). Of these 14 patients, eight (four with SCD and four with ACD) had abnormal white matter findings of similar patterns. These patients had pseudonodular, subcortical, and periventricular white matter high signal intensity images in T2, and fluid-attenuated inversion recovery sequences that were isolated or confluent. The images did not correlate with the neurological clinical state. Given that eight of the 14 patients showed these lesions, their prevalence in different chromosomal abnormalities appears to be high, even though they have not been well reported in the literature. To our knowledge, these alterations have never been described in SCD. We concluded that unknown factors related to the myelination processes may be localized in different chromosomes. 相似文献
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Titton RL Gryzenia PC Gervais DA Arellano RS Boland GW Mueller PR 《AJR. American journal of roentgenology》2003,180(4):1079-1084
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Juan José Valerdi Álvarez Martín Tejedor Gutiérrez Juan José Albistur Tomé Javier Arellano Aburto Ruth Vera García Juan Ignacio Arrarás Urdaniz Fernando Arias de la Vega 《Clinical & translational oncology》2003,5(8):465-470
Introduction
The effectiveness of neoadjuvant chemotherapy (Mayo clinic schedule) and continuous oral chemotherapy (tegafur 400 mg and folinic acid 15 mg every 12 hours) administered during preoperative radiotherapy (4,500 cGy over 5 weeks) were studiedMaterials and methods
A total of 53 patients with surgically-resectable rectal adenocarcinoma were treated.Results
Toxicities of ≤ grade II were lower with neoadjuvant chemotherapy while the chemoradiotherapy had higher toxicity rates including grade III diarrhoea (4%), grade III mucositis (4%), and grade III–IV neutropenia (9%). Symptom improvement ocurred in 38% of patients after neoadjuvant chemotherapy coparative with 55% following the first week of chemoradiotherapy. Surgery was curative in 97% of the patients: abdominoperineal amputation in 24 patients (47%) and conservative surgery in 28 (53%). Down-staging ocurred in 24 patients (46%), and 7 patients (14%) showed pathological complete response. Overvall survival at 5 years, with a median follow-up of 50 months, was 70% (cancer-specific survival was 75%) with significant differences recorded between N+ and N0 patients (56% and 76%, respectively; p<0.001), and between T-0-1-2 and T3 patients (73% and 56%, respectively; p<0.001). Only 2 patients (3%) had local relapse.Conclusion
This treatment scheme was well tolerated and had high rate of local control and longterm times. 相似文献77.
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Pinilla M González FM López-Cortijo C Arellano B Herrero J Trinidad A Vergara J 《The Journal of laryngology and otology》2003,117(1):63-66
Management of patients with carcinoma of the larynx should systematically include an appropriate treatment of lymph nodes according to the TNM stage. One of the most controversial points of the treatment in these patients is the management of the clinically negative neck (N(0)). A retrospective study of 295 patients with laryngeal carcinoma and N(0) neck undergoing treatment in our centre between 1983 and 1993 is presented. We observed a significant decrease in the survival of clinically N(0) patients with histologically affected lymph nodes. Lymphadenopathy was more frequently detected in patients with supraglottic tumours (38 per cent) when compared to glottic tumours (16 per cent). In our experience, routine bilateral and unilateral dissection of N(0) necks in all supraglottic tumours and in T3-T4 glottic tumours, respectively, is the most beneficial approach for patients in terms of survival. 相似文献
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Familial isolated unilateral large vestibular aqueduct syndrome 总被引:3,自引:0,他引:3
Ramírez-Camacho R Ramón García Berrocal J Arellano B Trinidad A 《ORL; journal for oto-rhino-laryngology and its related specialties》2003,65(1):45-48
Large vestibular aqueduct syndrome (LVAS) is one of the most frequent inner ear malformations. It is associated with varying degrees of hearing loss, that may be progressive, sudden or fluctuant; nevertheless normal hearing in cases with LVAS has been described. Although unilateral LVAS has been described, all patients show clinical and radiological findings in both ears, in contrast to the family presented here, where 2 siblings are affected by unilateral sensorineural hearing loss associated with ipsilateral LVAS, with an autosomal recessive pattern. In order to search for the origin of this inner ear malformation, mutations in genes GJB2 (connexin-26 gene), PDS (Pendred's syndrome gene) and mitochondrial 12sRNA were studied, without positive results. In this paper we hypothesize the probable embryological origin for this malformation. 相似文献