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11.
Andres A; Morales JM; Praga M; Campo C; Lahera V; Garcia-Robles R; Rodicio JL; Ruilope LM 《Nephrology, dialysis, transplantation》1997,12(7):1437-1440
BACKGROUND: Cyclosporin has been shown to facilitate renal vasoconstriction
and to have an antinatriuretic effect. The existence of an interference of
cyclosporin with the vasodilating properties of endothelium mediated by
nitric oxide production could mediate these effects. On the other hand, the
infusion of the nitric oxide precursor L-arginine has been shown to induce
renal vasodilatation and to facilitate natriuresis in normal volunteers. We
have investigated the renal effects of the administration of an infusion of
L-arginine in renal transplant patients chronically treated with
cyclosporin. To facilitate the analysis of the data the effects of the
administration of a similar dose of cyclosporin on renal function during
the infusion of a vehicle were also investigated during the administration
of a vehicle of L-arginine. DESIGN: Ten male renal transplant patients,
chronically treated with cyclosporin and with a stable renal function were
studied during 2 consecutive days after the administration of the usual
morning dose of cyclosporin. The first day they received an intravenous
infusion of vehicle and the second the infusion of graded doses of
L-arginine (50, 100, 150 mg/kg/h) during 3 consecutive h. RESULTS: The
first day, after cyclosporin administration a significant fall (P <
0.01) was observed in natriuresis and kaliuresis in the absence of changes
in renal plasma flow and glomerular filtration rate. After the
administration of L-arginine significant (P < 0.01) increases of renal
plasma flow, glomerular filtration rate, and natriuresis were seen. The
increase in blood levels of cyclosporin after its administration did not
differ between days 1 and 2. CONCLUSION: These results indicate that
L-arginine facilitates renal vasodilatation and natriuresis in renal
transplant patients. Furthermore, the observed increase in sodium excretion
could indicate that L-arginine counteracts the antinatriuretic effect of
cyclosporin.
相似文献
12.
Does altered biomechanics cause marrow edema? 总被引:21,自引:0,他引:21
13.
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 总被引:6,自引:7,他引:6
Roepman R; van Duijnhoven G; Rosenberg T; Pinckers AJ; Bleeker-Wagemakers LM; Bergen AA; Post J; Beck A; Reinhardt R; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(7):1035-1041
The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-
linked RP (XLRP), has been mapped previously to a chromosome interval of
less than 1000 kbp between the DXS1110 marker and the OTC locus at
Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization
(YRH)', we have recently identified a small XLRP associated microdeletion
in this interval, as well as several putative exons including the 3' end of
a gene that was truncated by the deletion. cDNA library screening and
sequencing of a cosmid centromeric to the deletion has now enabled us to
identify numerous additional exons and to detect several point mutations in
patients with XLRP. The predicted gene product shows homology to RCC1, the
guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our
findings suggest that we have cloned the long-sought RP3 gene, and that it
may encode the GEF of a retina-specific GTP-binding protein.
相似文献
14.
High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes 总被引:5,自引:0,他引:5
Shuber AP; Michalowsky LA; Nass GS; Skoletsky J; Hire LM; Kotsopoulos SK; Phipps MF; Barberio DM; Klinger KW 《Human molecular genetics》1997,6(3):337-347
As more mutations are identified in genes of known sequence, there is a
crucial need in the areas of medical genetics and genome analysis for
rapid, accurate and cost-effective methods of mutation detection. We have
developed a multiplex allele-specific diagnostic assay (MASDA) for analysis
of large numbers of samples (> 500) simultaneously for a large number of
known mutations (> 100) in a single assay. MASDA utilizes
oligonucleotide hybridization to interrogate DNA sequences. Multiplex DNA
samples are immobilized on a solid support and a single hybridization is
performed with a pool of allele-specific oligonucleotide (ASO) probes. Any
probes complementary to specific mutations present in a given sample are in
effect affinity purified from the pool by the target DNA. Sequence-specific
band patterns (fingerprints), generated by chemical or enzymatic sequencing
of the bound ASO(s), easily identify the specific mutation(s). Using this
design, in a single diagnostic assay, we tested samples for 66 cystic
fibrosis (CF) mutations, 14 beta-thalassemia mutations, two sickle cell
anemia (SCA) mutations, three Tay-Sachs mutations, eight Gaucher mutations,
four mutations in Canavan disease, four mutations in Fanconi anemia, and
five mutations in BRCA1. Each mutation was correctly identified. Finally,
in a blinded study of 106 of these mutations in > 500 patients, all
mutations were properly identified. There were no false positives or false
negatives. The MASDA assay is capable of detecting point mutations as well
as small insertion or deletion mutations. This technology is amenable to
automation and is suitable for immediate utilization for high-throughput
genetic diagnostics in clinical and research laboratories.
相似文献
15.
16.
17.
Hernia - Patients who present with symptomatic, clinically occult, radiologically evident (SCORE) inguinal hernia represent diagnostic and therapeutic challenge with a wide differential diagnosis... 相似文献
18.
Objective To detect new mutations among 29 glucose-6-phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province. Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals. Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing. Results Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified. Nine cases remained to be defined. The G1381A mutation is a novel mis-sense mutation, with a substitution of threonine for alanine (A461T). The resultant G6PD had reduced enzymatic activity. In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation. Conclusion A novel mis-sense mutation G1381A was found. This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity. The loss of the Stu I restriction site offers a rapid method for the detection of this mutation. 相似文献
19.
BACKGROUND: In studies of adult humans and in animal models, dietary intakes of the macronutrients, particularly fat, are related to body composition; however, data on children are more scarce. OBJECTIVE: We sought to determine whether diet composition is related to percentage body fat in children aged 1.5-4.5 y. DESIGN: In 77 preschool children, a 4-d weighed-food record was used to determine intakes of total energy and energy from each macronutrient. An oxygen-18 dilution method was used to calculate percentage body fat. Habitual physical activity level was determined by calculating the ratio of total energy expenditure (from stable isotope analyses) to predicted basal metabolic rate. Dietary intake and body-composition data were analyzed to evaluate whether diet composition was related to body fat. Further analyses incorporating physical activity level were performed. RESULTS: Percentage body fat was not significantly correlated with dietary intake variables (total energy or percentage of energy from fat, carbohydrate, or protein) and did not differ significantly among 3 increasing levels of each dietary intake variable by analysis of variance. In multiple regression analysis, physical activity level was related to body fat whereas diet composition was not. CONCLUSIONS: We found no relations between dietary intakes of total energy, fat, carbohydrate, or protein and percentage body fat in children. The relation between fat intake and body fat may develop over time and may not be evident in preschool children. Energy expenditure, in particular physical activity level, may have a greater influence on body composition in early childhood. 相似文献
20.
FJ Cowan JT Warner LM Lowes JP Riberio JW Gregory 《Archives of disease in childhood》1997,77(2):109-114
AIMS: To define outcome measures for auditing the clinical care of children and adolescents with insulin dependent diabetes mellitus (IDDM) and to assess the benefit of appointing a dedicated paediatric trained diabetes specialist nurse (PDSN). METHODS: Retrospective analysis of medical notes and hospital records. Glycaemic control, growth, weight gain, microvascular complications, school absence, and the proportion of children undergoing an annual clinical review and diabetes education session were assessed. The effect of the appointment of a PDSN on the frequency of hospital admission, length of inpatient stay, and outpatient attendance was evaluated. RESULTS: Children with IDDM were of normal height and grew well for three years after diagnosis, but grew suboptimally thereafter. Weight gain was above average every year after diagnosis. Glycaemic control was poor at all ages with only 16% of children having an acceptable glycated haemoglobin. Eighty five per cent of patients underwent a formal annual clinical review, of whom 16% had background retinopathy and 20% microalbuminuria in one or more samples. After appointing the PDSN the median length of hospital stay for newly diagnosed patients decreased from five days to one day, with 10 of 24 children not admitted. None of the latter was admitted during the next year. There was no evidence of the PDSN affecting the frequency of readmission or length of stay of children with established IDDM. Non-attendance at the outpatient clinic was reduced from a median of 19 to 10%. CONCLUSIONS: Outcome measures for evaluating the care of children with IDDM can be defined and evaluated. Specialist nursing support markedly reduces the length of hospital stay of newly diagnosed patients without sacrificing the quality of care. 相似文献