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991.
The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease. 相似文献
992.
C. Sch?fer H. H. Klünemann B. Ibach J. Mueller A. Putzhammer I. Trender-Gerhard G. Schuierer H. E. Klein 《Der Nervenarzt》2002,24(1):879-882
Wir berichten über den ersten Fall von polyzystischer lipomembran?ser Osteodysplasie oder “brain, bone and fat disease” in
Deutschland. Die nach dem Erstbeschreibern auch als Morbus J?rvi-Hakola-Nasu bezeichnete Erkrankung ist bisher vor allem in
Japan und in Finnland beschrieben worden. Einzelne F?lle wurden aus Schweden, Norwegen, Italien, Südafrika, Belgien und den
USA berichtet. Im deutschsprachigen Raum ist bisher ein Fall aus ? ver?ffentlicht worden. 相似文献
993.
Interaction of the leucine-rich repeats of polycystin-1 with extracellular matrix proteins: possible role in cell proliferation. 总被引:3,自引:0,他引:3
Ashraf N Malhas Ramadan A Abuknesha Robert G Price 《Journal of the American Society of Nephrology : JASN》2002,13(1):19-26
Polycystin-1, the product of the PKD1 gene, is a membrane-bound multidomain protein with a unique structure and a molecular weight of approximately 460 kD. The purpose of this study is to investigate the binding of the cystein-flanked leucine-rich repeats (LRR) of polycystin-1 to extracellular matrix (ECM) components. These interactions may play a role in normal renal development as well as the pathogenesis of autosomal-dominant polycystic kidney disease (ADPKD). In vitro assays were used to assess the binding of a fusion protein containing the LRR of polycystin-1 and that of affinity purified polycystin-1 to a number of ECM components. The results showed that the LRR modulate the binding of polycystin-1 to collagen I, fibronectin, laminin, and cyst fluid-derived laminin fragments. The addition of the LRR fusion protein to cells in culture resulted in a significant dose-dependent reduction in the rate of proliferation. Cyst fluid-derived laminin fragments had a stimulatory effect on cell proliferation, which was reversed by the LRR fusion protein. These results suggest that the LRR of polycystin-1 act as mediators of the polycystin-1 interaction with the ECM. The observed suppression effect of the LRR on cell proliferation suggests a functional role of the LRR-mediated polycystin-1 involvement in cell-matrix and cell-cell interactions. These interactions may result in the enhanced cell proliferation that is a characteristic feature of ADPKD. 相似文献
994.
The efficacy of radiology in evaluating dysphagia was studied in 86 patients by comparison to endoscopic findings. In the 66 patients with endoscopic abnormalities radiology was correct in 54, for a sensitivity of 82%. Sensitivity of radiology improved to 95% if mild esophagitis was excluded. In the 20 patients with normal endoscopy, radiology was normal in 18 (90%). Thus radiology proved to be a reliable means of evaluating the esophagus in patients with dysphagia. 相似文献
995.
Neurological dysfunction of the bladder in workers exposed to dimethylaminopropionitrile 总被引:1,自引:0,他引:1
Neurogenic bladder dysfunction, characterized by hesitancy, need to strain, decreased stream, and increased duration of urination, developed in 104 (63%) of 166 employees working in the manufacture of polyurethane foam. Highest rates of illness (69%) occurred in production workers, and no illness occurred in office or warehouse workers. Onset of the epidemic coincided with introduction of a catalyst, dimethylaminopropionitrile (DMAPN), and monthly case incidence rates increased as DMAPN use increased. Outbreak ceased abruptly when DMAPN use was stopped. Of eight patients who underwent neurourologic testing during recovery, seven lacked either detrusor reflex or normal sensation of bladder filling; seven had a subclinical sensory abnormality; three had prolonged sacral-evoked responses; and two of these three had limb motor neuropathies. Dimethylaminopropionitrile is unique among known neurotoxins in producing urinary symptoms more frequently than limb nerve symptoms. 相似文献
996.
P Tugwell L Hart G Kraag A Park C Dok F Bianchi C Goldsmith W W Buchanan 《The Journal of rheumatology》1984,11(4):457-461
A crossover double-blind controlled trial was performed on 36 patients with rheumatoid arthritis to assess the necessity for serum salicylate monitoring in determining optimal dosage. There was no clinically or statistically significant increase in the clinical improvement of patients associated with serum monitoring but potentially toxic serum levels occurred without tinnitus when serum monitoring was not used. 相似文献
997.
998.
K Mahmood M N Chowdhury E A Ayoola I A Mofleh R S Rashed F Z Faleh 《Tropical gastroenterology》1991,12(4):188-191
Seventy seven antral biopsies were collected from patients attending endoscopy clinic at King Khalid University Hospital, Riyadh, Saudi Arabia during a period of six months between December 1988 to May 1989. Of these 69 (89.6%) showed chronic gastritis as well as Helicobacter-like organisms (HLOs) in the biopsy specimens while 63 (81.8%) of biopsies grew Helicobacter pylori on culture. These findings indicate a good correlation between the histological diagnosis of chronic gastritis and isolation of H. pylori on culture. 相似文献
999.
Spontaneous neuronal hyperactivity in the medial and intralaminar thalamic nuclei of patients with deafferentation pain 总被引:6,自引:0,他引:6
Electrical activity was recorded from single cells in the thalamus of 10 patients with chronic pain associated with deafferentation. Under local anesthesia, these patients underwent either electrode implantation or thalamotomy for treatment of their pain. In eight of the 10 patients, single units were identified as discharging spontaneously in high-frequency, often rhythmic, bursts. The discharges were of two types: short bursts comprised of two to six spikes with a burst frequency of one to four per second; and long trains of 30 to 80 spikes of similar frequency. Reconstruction of electrode trajectories indicated that recordings were made from the region corresponding to the lateral aspect of the mediodorsal thalamic nucleus, the central lateral nucleus, a small part of the central median nucleus, and the parafascicular nucleus. In the eight patients in whom spontaneous neuronal burst activity was exhibited, it was impossible to study activity evoked by natural cutaneous stimulation due to the continuous spontaneous neuronal discharges. Both animal and human studies have suggested that pain related to deafferentation is accompanied by spontaneous hyperactivity in the dorsal horn of the spinal cord and in the ventral posterior thalamic nuclei. The authors present evidence of spontaneous neuronal hyperactivity in the intralaminar thalamic nuclei of patients with pain related to deafferentation. The findings suggest that spontaneous neuronal discharge in patients with pain related to deafferentation is more widespread in the central nervous system than has been previously appreciated. The results have important implications for the surgical treatment of chronic pain. 相似文献
1000.
A Kalam M D Tahseen S F Islam M D Rahmatullah N A Faruqi 《Journal of the Indian Medical Association》1991,89(1):9-10
With topical therapy using dinitrochlorobenzene (DNCB), 36 (72%) out of 50 patients having alopecia areata showed regrowth of hair in 3 to 6 months time. Five (10%) patients experienced marked vesiculation and severe contact dermatitis requiring cessation of therapy. In 7 (14%) patients there was no response at all and 4 (8%) presented with other side-effects. 相似文献