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De Klein A; Riegman PH; Bijlsma EK; Heldoorn A; Muijtjens M; den Bakker MA; Avezaat CJ; Zwarthoff EC 《Human molecular genetics》1998,7(3):393-398
We describe a G-->A transition within intron 5 of the NF2 gene. This
mutation creates a consensus splice branch point sequence. To our knowledge
this is the first report of a mutation that creates a functional branch
point sequence in a human hereditary disorder. The new branch point
sequence is located 18 bp upstream of a consensus splice acceptor site. A
consensus splice donor site is found 106 bp 3' of the acceptor site. Asa
consequence the G-->A transition results in an alternatively spliced
mRNA containing an additional exon 5a of 106 bp derived from intron
sequences. We cloned the mutant cDNA and show that due to an in-frame stop
codon the cDNA codes for a truncated NF2 protein. The mutation was observed
in three affected members of an NF2 family. In a tumour of one of the
family members both alternatively spliced and wild-type mRNA were found,
although the wild-type allele of the gene is absent due to an interstitial
deletion on chromosome 22. We also show that immunoprecipitations reveal
the presence of full-length wild-type NF2 protein in the tumour lysate.
These data support the hypothesis that some degree of normal splicing of
the mutant precursor RNA is taking place. It is therefore likely that this
residual activity of the mutant allele explains the relatively mild
phenotype in the family. These data also indicate that complete
inactivation of the gene is not required for tumour formation.
相似文献
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The feasibility of performing laparoscopic cholecystectomy on an outpatient basis was evaluated in 55 selected patients who underwent the procedure with careful back-up. Nine per cent of patients required overnight hospitalization whereas 5% were readmitted at a later date. Fifty-nine per cent of patients described their postoperative pain as severe or moderately severe and 27% complained of vomiting or severe nausea. Despite these findings, 66% of patients expressed complete satisfaction with the procedure as performed and 82%, given the choice, would have opted for the same method again. The advantages to the patient are the high likelihood that the procedure will take place as planned and they are able to convalesce in familiar surroundings. The advantages to the hospital are the freeing up of inpatient beds and potential cost savings. 相似文献
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Efficacy and tolerability of pantoprazole 40 mg versus 80 mg in patients with reflux oesophagitis. 总被引:4,自引:2,他引:2
van Rensburg CJ Honiball PJ Grundling HD van Zyl JH Spies SK Eloff FP Simjee AE Segal I Botha JF Cariem AK Marks IN Theron I Bethke TD 《Alimentary pharmacology & therapeutics》1996,10(3):397-401
BACKGROUND: Pantoprazole is a substituted benzimidazole which is a potent inhibitor of gastric acid secretion by its action upon H+, K+- ATPase. METHODS: Pantoprazole 40 mg and 80 mg were compared in a randomized double-blind study in 192 out-patients with stage II or III (Savary-Miller classification) reflux oesophagitis. Patients received either pantoprazole 40 mg (n = 97) or pantoprazole 80 mg (n = 95), once daily before breakfast for 4 weeks. Treatment was extended for a further 4 weeks if the oesophagitis had not healed. RESULTS: After 4 weeks complete healing of the reflux oesophagitis was seen in 78% of protocol-correct patients given pantoprazole 40 mg daily (n = 86), and in 72% in the 80 mg (n = 87) group. The cumulative healing rates after 8 weeks were 95 and 94%, respectively (P > 0.05, Cochran-Mantel- Haenszel), and time until healing of oesophagitis comparable in both groups. Differences between doses were also not significant in an intention-to-treat analysis. Both dosing schedules were well tolerated and the patients experienced remarkable symptom relief. No adverse event or changes in laboratory values of clinical significance could definitely be ascribed to the trial medication. CONCLUSION: The 40 mg pantoprazole dosage is comparable to 80 mg in reflux oesophagitis, both in efficacy and tolerability. 相似文献
119.
The radiology of juxtaglomerular tumors 总被引:1,自引:0,他引:1
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Sijens PE; Wijrdeman HK; Moerland MA; Bakker CJ; Vermeulen JW; Luyten PR 《Radiology》1988,169(3):615-620
To assess the potential of in vivo magnetic resonance (MR) spectroscopy for breast cancer, hydrogen-1 and phosphorus-31 MR spectra of five malignant human breast tumors were compared with those of unaffected breast tissue. The water-to-fat ratio was high in the tumors (average, 2.2) but low in the unaffected tissue (average, 0.3). The P-31 spectrum of normal breast tissue showed low levels of phosphomonoesters (PMEs), inorganic phosphate, phosphodiesters (PDEs), and ATP. In addition, an intense phosphocreatine (PCr) signal was observed in breast tissue of young women: The relative intensities of the PCr and ATP signals had a mean value of 1.9. The tumor spectrum showed elevated levels of PMEs, Pi, and PDEs, while no PCr was seen (PCr/ATP less than 0.2). In two breast cancers treated with radiation therapy, resulting in a decrease of tumor volume of more than 50%, a similar change in the tumor P-31 spectrum was observed: An intense PCr signal developed (PCr/ATP = 1.1). Control experiments indicated that the appearance of PCr after radiation therapy was the result of a radiation-induced metabolic change in the tumor itself. 相似文献