Association study between vitiligo and autoimmune-related genes CYP27B1, REL,TNFAIP3, IL2 and IL21

The aetiology of vitiligo has not been fully elucidated, and several hypotheses have been investigated; among them, the most explored assumes an autoimmune basis for the disease. Supporting this hypothesis is the frequent co-occurrence of autoimmune diseases with vitiligo. In addition, various genetic loci associated with vitiligo harbour key immune response genes. Our general hypothesis is that autoimmunity-associated genes participate in the control of vitiligo susceptibility. To investigate this hypothesis, we tested for association between vitiligo and genes CYP27B1, REL, TNFAIP3 and IL2/IL21, all previously related to autoimmune diseases associated with vitiligo. The study was performed using two independent population samples: a family-based discovery set (211 trios) and a replication set (131 cases/119 controls). Statistically significant association with vitiligo was detected between markers of the REL and IL2 gene in the family-based sample. Both association signals were concentrated among patients displaying autoimmune comorbidity and non-segmental vitiligo. Evidence for validation was detected for IL2 marker. Our findings suggest REL and IL2 as new vitiligo susceptibility genes and reinforce the hypothesis of a shared genetic mechanism controlling vitiligo and other autoimmune diseases.     

The rat brachial plexus and its terminal branches: An experimental model for the study of peripheral nerve regeneration

Despite the introduction of microsurgical techniques into clinical practice, the results of surgical procedures involving the brachial plexus and peripheral nerves are still far from spectacular. We therefore studied the rat brachial plexus and its terminal branches in 203 rats. Detailed anatomic and morphologic analyses of the biceps brachii and musculocutaneous nerve, finger flexors, flexor carpi radialis, and the median nerve were performed. Various sources of conventional and vascularized nerve grafts were explored. After musculocutaneous nerve section or median nerve section, there were no articular contractures or automutilations, which constitutes an advantage for these experimental models over the sciatic nerve model. The brachial plexus and its terminal branches provide a good experimental model which can be used to assess the development and normal control of muscle function, examine the mechanisms underlying functional recovery, and test the effects of treatments to enhance recovery. © 1995 Wiley-Liss, Inc.     

Mitotic and meiotic detection of radiation-induced translocations in mouse stem cell spermatogonia using fluorescencein situ hybridization

The efficiency of two methods of detection of translocations induced in mouse stem cell spermatogonia by X-ray doses of 2, 5 and 7 Gy was compared: classical multivalent analysis at diakinesis-metaphase I of meiosis and observation via fluorescencein situ hybridization analysis of mitotic or meiotic stages. Specific DNA libraries for chromosomes 1, 11 and 13 were used. The results obtained indicate that (a) chromosomes 1, 11 and 13 are more involved in multivalent formation than expected on the basis of DNA content and (b) if the mitotic FISH analysis data are corrected for the observed over-representation, the frequencies of induced translocations are similar to those recorded in the classical multivalent studies, suggesting equal scoring efficiencies in both systems.     

Peripheral nerve stimulation during MRI: Effects of high gradient amplitudes and switching rates

The application of high gradient amplitudes and switching rates for MRI and spectroscopy, resulting in short rise times for the gradient field and high changes of the magnetic flux density in the patient, is known to possibly evoke peripheral nerve stimulation (PNS) in patients. These effects have been studied on 20 volunteers under different experimental circumstances. The results of these measurements are partially in line with earlier findings reported in the literature. New information is found for the dependence of the PNS threshold level as a function of the rise time of the gradient waveform. The PNS threshold level, expressed in terms of dB/dt, is found to be proportional with t^?05, where t is the switch time for the gradients. Indications are found that |B|, the modulus of the gradient vector field, is more closely related to the PNS threshold level than B_z, the imaging component of the gradient field. From the experiments, it is furthermore concluded that only for the imaging protocols characterized by the application of long bipolar repetitive gradient pulse trains, such as echo-planar imaging, PNS is expected at the reported threshold levels. For the protocols based on spin echo, turbo spin echo, inversion recovery, fast field echo, etc., characterized by shorter gradient pulse trains, the threshold levels are expected to be much higher.     

Lobar and segmentai atrophy of the liver

Lobar atrophy of the liver has been recognized as a complication of hepatic and biliary disease for many years. Previously regarded as rare and clinically unimportant, it is now accepted as reasonably common and clinically significant in many patients. Atrophy of liver lobes and, now, also segments, is much more frequently diagnosed because of the routine use of ultrasound and computed tomography scanning in the assessment of hepatobiliary disease, together with its recognition on angiograms and at laparoscopy.

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Resumen La atrofía lobar del hígado ha sido reconocida como una complicación de la enfermedad hepática y biliar desde hace muchos años. Previamente considerada como rara y de escasa importancia clínica, ahora es aceptada como una entidad relativamente común y de significación clínica en muchos pacientes. La atrofía de los lóbulos hepáticos, y ahora también de los segmentos, se diagnostica con mayor frecuencia en virtud del uso rutinario del ultrasonido y de la tomografía computadorizada en la valoración de la enfermedad hepatobiliar, así como de su reconocimiento en angiogramas y en laparoscopia.

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Résumé On a longtemps considéré l'atrophie d'un lobe du foie comme une complication de la maladie hépatique et biliaire. Considérée d'abord comme rare et sans importance, elle est actuellement reconnue comme assez fréquente et cliniquement importante chez bien des patients. On diagnostique l'atrophie des lobes du foie et à ce jour également celle des segments beaucoup plus souvent gráce à la pratique systématique d'échographie et de tomodensitométrie dans l'évaluation de la maladie hépatobiliaire, jointe à son identification en angiographie et par laparoscopie.

     

Time related bias in longitudinal studies using dual photon absorptiometry.

Examining the bone mineral density (BMD's) slope of patients regularly followed in our department, we observed recently that the group of patients who had their last BMD during the last 6 months of 1989, had a different slope than patients who had their last BMD during the following 6 months. In order to investigate if a small time-related bias of measurement, unsuspected by the former quality control investigations, could exist, we performed the following analyses. A regression equation between BMD and time was calculated and a slope was obtained for 95 women who had been followed for at least 3 yr and had had at least 3 BMD measurements during that time. The women were divided in 3 groups according to when the last BMD measurement had been performed (July-December 1989, January-June 1990 or July-December 1990). The slopes of the 3 groups of patients were compared. For each value of BMD of every patient, a predicted BMD (BMDp) was calculated using the regression equation and the relative difference (RD) between BMDp and BMD was calculated and analysed in relation to time. There was a significant difference (p < 0.05) between the slopes of patients in relation to the time when the last BMD had been measured. Significant fluctuations (p < 0.001) in RD were observed in relation to time. These RD variations suggested the existence of a time-related error. The presence of this error is also substantiated by the fact that a parallelism existed between the curve of the RD variations and the curve of the mean values of BMD of all patients referred to our department, calculated per period of 4 months. Although the fluctuation of the latter curve was not statistically significant.(ABSTRACT TRUNCATED AT 250 WORDS)