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991.
Angiocentric lymphomatoid granulomatosis is a rare lymphoproliferative disease, mainly associated with pulmonary manifestation. Its origin is unknown, but Epstein-Barr virus may be one of the etiological factors. A 51-year-old male had an abdominal laparotomy in 1994 and a large granulomatous mass was removed from behind the cecum. No specific therapy was administered. In February 1998 multiple pulmonary lesions were found by X-ray and thoracoscopic biopsy was made. The histopathological diagnosis was angiocentric lymphomatoid granulomatosis. The patient received 6 cycles of CHOP chemotherapy, with which a complete remission was achieved. A consistent severe hypogammaglobulinaemia was detected, so the diagnosis of common variable immunodeficiency (CVID) was established. The diagnosed CVID was the probable causative factor of the angiocentric lymphomatoid granulomatosis. After the CHOP treatment, the patient is on intravenous immunoglobulin substitution and is well up to today. 相似文献
992.
Ricardo A. Maselli Hélio van der Linden Jr Michael Ferns 《American journal of medical genetics. Part A》2020,182(7):1744-1749
Defects in the gene encoding synaptotagmin 2 (SYT2) have been linked to a presynaptic congenital myasthenic syndrome (CMS) and motor neuropathies. However, to date only dominant forms of the disease have been described. We report here a consanguineous patient with a severe recessive form of presynaptic CMS and denervation atrophy caused by the homozygous mutation c.1191delG, p.Arg397Serfs*37 in SYT2. The affected 2‐year‐old girl had profound weakness and areflexia with moderate bulbar deficit. Repetitive nerve stimulation revealed an extreme reduction of compound muscle action potential amplitudes at rest, with a striking facilitation followed by a progressive decline at fast stimulation rates. These findings were reminiscent, but not identical to those seen in the Lambert–Eaton myasthenic syndrome. 3,4 diaminopyridine and pyridostigmine were effective to ameliorate muscle fatigue, but albuterol was ineffective. Modeling of the mutation using the rat Syt1 C2B x‐ray structure revealed that Arg397Serfs*37 disrupts a highly conserved amino acid sequence at the bottom face of the C2B domain not directly involved in calcium binding, but crucial for synaptotagmin‐SNARE interaction and exocytosis. Thus, this report describes a recessive form of synaptotagmin 2‐CMS and highlights the importance of the synaptotagmin C‐terminal on synaptic vesicle fusion and exocytosis. 相似文献
993.
J. Gutierrez M. C. Maroto A. De la Higuera M. Guerrero E. Padilla G. Piédrola 《European journal of clinical microbiology & infectious diseases》1995,14(6):542-546
The prevalence of anti-Borrelia burgdorferi antibodies was studied in Granada, Spain, between January 1991 and November 1993 in 354 patients with suspected Lyme disease (group 1); in 50 patients either with syphilis (n=32) or without syphilis but with a positive Rapid Plasma Reagin test (n=18) (group 2); and in 150 healthy subjects (group 3). In addition, intrathecal antibody production was evaluated by EIA in CSF samples obtained from 117 patients in group 1. Anti-Borrelia burgdorferi antibodies were detected by EIA in 58 patients (16.4 %) in group 1, 29 (8.2 %) of whom were positive by Western blot. Intrathecal antibody production was detected in one patient. In group 2, 8 (16 %) patients had a positive EIA result, but none of these was confirmed by Western blot. Western blot was negative for all subjects in group 3. The results of this study indicate that anti-Borrelia burgdorferi antibodies are not uncommon in our area, although Lyme disease is rare. 相似文献
994.
995.
A. J. S. Benadé C. R. Jansen G. G. Rogers C. H. Wyndham N. B. Strydom 《Pflügers Archiv : European journal of physiology》1973,342(3):199-206
Summary Four well-trained male subjects worked for periods of 6 h on bicycle ergometers at work loads requiring about 47% of their maximal aerobic capacity. In one series of studies they received only water; in a second series they received 100 g of sucrose containing 100 c U-C14-labelled sucrose at the beginning of the fourth hour of work. In a third series of experiments, the same subjects received 100 g of non-labelled sucrose at the beginning of the fourth hour. During the experiment without U-C14-labelled sucrose, blood samples were withdrawn and analysed for glucose, lactate and pyruvate content. Data from C14O2 recovery in expired air showed a good correlation with the amount of carbohydrate oxidized during the sucrose experiment. Peak values for the respiratory exchange ratio showed the same time response as those observed for the C14O2 in the expired air. It is concluded that the observed rise in RQ after sucrose ingestion, under the conditions studied, is of metabolic origin, resulting from a complete conversion of pyruvate to CO2. 相似文献
996.
A new factor in pathogenesis of edema of cardiac origin 总被引:1,自引:0,他引:1
997.
A. Soriano J. Gómez L. Gómez J.R. Azanza R. Pérez F. Romero M. Pons F. Bella M. Velasco J. Mensa 《European journal of clinical microbiology & infectious diseases》2007,26(5):353-356
The aim of the study presented here was to assess the efficacy and tolerability of linezolid in the treatment of orthopedic
implant infections (OII). Eighty-five patients with an OII treated with linezolid were prospectively followed up for a minimum
of 12 months from the end of antibiotic therapy. Outcome was evaluated in relation to the duration and type of symptoms (acute
or chronic) and the retention or removal of the implant. For acute and chronic infections, the respective success rates were
100 and 92.3% when the implant was removed and 72.2 and 42.8% when it was not. The median length of linezolid treatment in
acute and chronic infections was 47 and 60 days, respectively. Thrombocytopenia was observed in four (4.7%) patients and anemia
in five (5.8%). The results suggest oral linezolid is an effective and well-tolerated alternative for treating OII. 相似文献
998.
Beauvillain C Vergilino-Perez D Dükic T 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2005,165(3):315-327
The eye movements we make to look at objects require that the spatial information contained in the objects image on the retina be used to generate a motor command. This process is known as sensorimotor transformation and has been generally addressed using simple point targets. Here, we investigate the sensorimotor transformation involved in planning double saccade sequences directed at one or two objects. Using both visually guided saccades toward stationary objects and objects subjected to intrasaccadic displacements, and memory-guided saccades, we found that the coordinate transformations required to program the second saccade were different for saccades aimed at a new target object and saccades that scanned the same object. While saccades aimed at a new object were updated on the basis of the actual eye position, those that scanned the same object were performed with a fixed amplitude, irrespective of the actual eye position. Our findings demonstrate that different abstract representations of space are used in sensory-to-motor transformations, depending on what action is planned on the objects. 相似文献
999.
1000.
Reciprocal translocations in breast tumor cell lines: cloning of a t(3;20) that targets the FHIT gene 总被引:1,自引:0,他引:1