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Borras Merce; Valdivielso Jose M.; Egido Ramon; Vicente de Vera Pilar; Bordalba Josep Ramon; Fernandez Elvira 《Nephrology, dialysis, transplantation》2006,21(3):789-791
3.
Jordi Llorens Cristina Su ol Josep M. Tusell Eduard Rodrí guez-Farr 《Neurotoxicology and teratology》1990,12(6):607-610
The inhibition of [35S]t-butylbicyclophosphorothionate ([35S]TBPS) binding to the GABAA receptor by the insecticide γ-hexachlorocyclohexane, lindane, was studied in several brain regions and using different membrane preparation methods, both in vitro and after dosing the animals with the chemical. In the latter studies, the amount of lindane remaining in the membrane suspensions used for binding assays was determined. In vitro data showed values of IC50 from 150 to 1675 nM, varying in function of the membrane preparation method used. This may account for the discrepancies in IC50 values found in the literature. IC50 values within the range of 150–250 nM were determined using extensively washed membranes from several brain regions, so no evidence arose for brain regional differences in the affinity of lindane for the TBPS binding site. After different schedules of acute treatment with lindane, we found a manifest relationship between the extent of the observable inhibition of [35S]TBPS binding and the lindane amount remaining in the membrane suspensions used for binding assays. This relationship was in good agreement with the in vitro data, so no support for an in vivo acute regulation of the binding site was obtained. 相似文献
4.
A brief mechanical or electrical stimulus to peripheral nerve afferents from the upper and lower limbs elicited a small and inconsistent EMG response of the orbicularis oculi muscles. This response was facilitated when the stimuli were delivered at fixed leading time intervals, of 45–300 ms, with respect to a supraorbital nerve electrical stimulus. Also, the peripheral nerve stimulus modified the conventional blink reflex responses, inducing facilitation of R1 and inhibition of R2. These results suggest a complex processing of sensory inputs from the face and the limbs at the brainstem, where they are probably integrated in a network of interneurons influencing the excitability of facial motoneurons. 相似文献
5.
Mònica Gratacòs Juan R González Josep M Mercader Rafael de Cid Mikel Urretavizcaya Xavier Estivill 《Neuropsychopharmacology》2007,61(7):911-922
BACKGROUND: There is an increasing recognition that the pathophysiology of mental disorders could be the result of deregulation of synaptic plasticity with alterations of neurotrophins. The valine (Val)66-to-methionine (Met) variant, located in the pro brain-derived neurotrophic factor (BDNF) sequence, has been extensively studied through linkage and association approaches in several psychiatric disorders. METHODS: We performed a meta-analysis restricted to individual case-control studies in different categories of mental disorders and BDNF Val66Met polymorphism. We included data from 39 case-control studies encompassing psychiatric phenotypes: eating disorders, substance-related disorders, mood disorders, and schizophrenia, among others. RESULTS: The association of Val66Met was confined to three diagnoses: substance-related disorders, eating disorders, and schizophrenia. The Val/Met and the Met/Met genotypes increase the risk for eating disorders up to 33%, while these same genotypes confer a 21% protective effect in substance-related disorders. The homozygous carriers Met/Met showed a 19% increased risk of schizophrenia with respect to the heterozygous state. CONCLUSIONS: The study confirms the association of Val66Met to substance-related disorders, eating disorders, and schizophrenia. It remains to be determined if other variants in tight linkage disequilibrium with Val66Met could configure an extended functional haplotype that would explain observed discrepancies in risk estimations across studies. 相似文献
6.
Marc Tey Joan C. Monllau Josep M. Centenera Xavier Pelfort 《Knee surgery, sports traumatology, arthroscopy》2007,15(10):1235-1239
The purpose of this work was to describe the posterior ankle impingement syndrome related to the posterolateral tubercle of
the talus bone and to present a retrospective analysis of our results after arthroscopic plasty of the tubercle in 15 ankles
with a mean 3-year follow-up. Fifteen cases of posterior ankle impingement (PAI) underwent arthroscopic excision of an impinging
bone spur. All the patients (13) were retrospectively evaluated at an average of 36 months after index surgery. There were
seven women (bilateral in two of them) and six men. Ten were involved in different kinds of sport and three were professional
ballet dancers. Preoperative symptoms included pain localized in the posterior ankle, limitation of motion, weakness and swelling.
All patients had failed a course of conservative therapies. Surgery was performed through posterolateral and posteromedial
portals as described by van Dijk. After soft tissue debridement, partial resection of the posterolateral process was performed
until there was complete plantar flexion without bone impingement. Postoperatively, all patients followed the same rehabilitation
protocol. Improvement in their impingement symptoms was recorded in all of them according to AOFAS score. One of them (7%)
still had occasional discomfort. The results suggest that arthroscopic bone decompression of the posterolateral tubercle in
cases of PAI resistant to non-surgical therapies is an effective treatment. 相似文献
7.
Miguel Marcos Alex Soriano José A Martínez Josep Mensa 《Clinical infectious diseases》2007,45(10):1401; author reply 1401-1401; author reply 1402
8.
9.
Acute unilateral facial paralysis is usually a benign neurological condition that resolves in a few weeks. However, it can also be the source of a transient or long-lasting severe motor dysfunction, featuring disorders of automatic and voluntary movement. This review is organized according to the two most easily recognizable phases in the evolution of facial paralysis: (1). Just after presentation of facial palsy, patients may exhibit an increase in their spontaneous blinking rate as well as a sustained low-level contraction of the muscles of the nonparalyzed side, occasionally leading to blepharospasm-like muscle activity. This finding may be due to an increase in the excitability of facial motoneurons and brainstem interneurons mediating trigeminofacial reflexes. (2). If axonal damage has occurred, axonal regeneration beginning at approximately 3 months after the lesion leads inevitably to clinically evident or subclinical hyperactivity of the previously paralyzed hemifacial muscles. The full-blown postparalytic facial syndrome consists of synkinesis, myokymia, and unwanted hemifacial mass contractions accompanying normal facial movements. The syndrome has probably multiple pathophysiological mechanisms, including abnormal axonal branching after aberrant axonal regeneration and enhanced facial motoneuronal excitability. Although the syndrome is relieved with local injections of botulinum toxin, fear of such uncomfortable contractions may lead the patients to avoid certain facial movements, with the implications that this behavior might have on their emotional expressions. 相似文献
10.
Josep Oriola Cristina Hernandez Rafael Simo Anna Barceló Roser Casamitjana Enric Vilardell & Francisca Rivera-Fillat 《Clinical endocrinology》1996,44(2):207-212
OBJECTIVE Genetic analysis is now essential for the accurate screening of families with multiple endocrine neoplasia type 2 (MEN2). We present the genetic analyses by both haplotype and direct RET proto-oncogene mutation analysis in seven Mediterranean MEN 2A families and have compared these results with biochemical screening tests and pathological examinations.
DESIGN Total DNA was extracted from leucocytes. Linkage analysis was performed using five RFLP systems from three loci that flank the MEN2A locus (FNRB, RBP3, D10S15). RET proto-oncogene analysis was carried out by automatic DNA sequencing and adequate digestion of PCR amplified products for exons 10 and 11. Screening for medullary thyroid carcinoma or C-cell hyperplasia was performed by the pentagastrin provocation test. Adrenal medullary function was assessed by measurements of 24-hour urinary excretion of catecholamines and their metabolites. Serum calcium and phosphate measurements were the initial screen for hyperparathyroidism. Serum PTH was determined only if hyperparathyroidism was suggested by the former determinations.
PATIENT Genetic study was performed in 59 individuals (39 at risk) from seven kindreds of Mediterranean origin with MEN 2A.
RESULTS Diagnosis by linkage analysis was not possible in 30% of individuals at risk, but RET proto-oncogene analysis identified all these individuals. Mutations of the RET proto-oncogene were detected in exon 10 (codon 618) in one MEN 2A kindred and in exon 11 (codon 634) in the others. The results of direct analysis were concordant with linkage studies in each case. Three individuals from different MEN 2A kindreds, who were subsequently shown not to be gene carriers, had false positive pentagastrin stimulation tests.
CONCLUSION Biochemical tests can be replaced by direct DNA mutation analysis as the first line screening test in order to identify gene carriers of MEN 2A. 相似文献
DESIGN Total DNA was extracted from leucocytes. Linkage analysis was performed using five RFLP systems from three loci that flank the MEN2A locus (FNRB, RBP3, D10S15). RET proto-oncogene analysis was carried out by automatic DNA sequencing and adequate digestion of PCR amplified products for exons 10 and 11. Screening for medullary thyroid carcinoma or C-cell hyperplasia was performed by the pentagastrin provocation test. Adrenal medullary function was assessed by measurements of 24-hour urinary excretion of catecholamines and their metabolites. Serum calcium and phosphate measurements were the initial screen for hyperparathyroidism. Serum PTH was determined only if hyperparathyroidism was suggested by the former determinations.
PATIENT Genetic study was performed in 59 individuals (39 at risk) from seven kindreds of Mediterranean origin with MEN 2A.
RESULTS Diagnosis by linkage analysis was not possible in 30% of individuals at risk, but RET proto-oncogene analysis identified all these individuals. Mutations of the RET proto-oncogene were detected in exon 10 (codon 618) in one MEN 2A kindred and in exon 11 (codon 634) in the others. The results of direct analysis were concordant with linkage studies in each case. Three individuals from different MEN 2A kindreds, who were subsequently shown not to be gene carriers, had false positive pentagastrin stimulation tests.
CONCLUSION Biochemical tests can be replaced by direct DNA mutation analysis as the first line screening test in order to identify gene carriers of MEN 2A. 相似文献