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排序方式: 共有854条查询结果,搜索用时 93 毫秒
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BARI NUHOLU ALI AYYILDIZ VECIHI FIDAN ÖZDEN CEBECI UUR KOAR CANKON GERMIYANOLU 《International journal of urology》2006,13(2):109-110
OBJECTIVE: Nocturnal enuresis is a common pediatric problem, the etiology of which is unclear. In recent years, various studies have been published stating that children with nocturnal enuresis exhibit growth and skeletal maturation retardation. METHODS: In this cross-sectional study, we included 27 patients (16 boys, 11 girls) between the ages of 6 and 14 years who had presented with primary nocturnal enuresis (PNE) complaints. We included in the evaluation 19 healthy subjects (12 boys, 7 girls), who were the siblings of the children with PNE, as the control group. RESULTS: The patients in both groups were similar in chronological age, bone age, height and weight, with no significant difference between groups (P>0.05). CONCLUSION: The two groups in our study consisted of the same genetic background. Thus, our results were found to be different from the previous studies. We have concluded that there is no direct relationship between enuresis nocturnal and skeletal maturation. 相似文献
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Serum ionic fluoride levels in haemodialysis and continuous ambulatory peritoneal dialysis patients 总被引:1,自引:1,他引:0
al-Wakeel JS; Mitwalli AH; Huraib S; al-Mohaya S; Abu-Aisha H; Chaudhary AR; al-Majed SA; Memon N 《Nephrology, dialysis, transplantation》1997,12(7):1420-1424
High serum fluoride (F-) in patients with chronic renal failure (CRF) and
end-stage renal disease (ESRD) is associated with risk of renal
osteodystrophy and other bone changes. This study was done to determine F-
in normal healthy controls and patients with ESRD on haemodialysis (HD) or
peritoneal dialysis (PD). Seventeen healthy controls (12 males, 5 females)
and 39 ESRD patients on dialysis (17 males, 22 females) were recruited in
the study in a community with 47.4 +/- 3.28 microM/l (range 44-51 microM/l)
of F- content in drinking water. Control subjects showed a mean serum F-
concentration of 1.08 +/- 0.350 microM/l. Males in control group showed
slightly higher F- levels (1.15 +/- 0.334, range 0.55-1.9 microM/l) than
females (0.92 +/- 0.370, range 0.6-1.5 microM/l). Mean serum F-
concentration did not correlate significantly with age and sex among
control subjects, whereas such correlation was observed in patients with
ESRD on dialysis. Mean serum F- concentration was significantly higher in
patients on dialysis (2.67 +/- 1.09, range 0.8-5.2 microM/l) than normal
controls. When grouped according to sex, the mean serum F- concentration in
males (3.05 +/- 1.04, range 1.8-5.2 microM/l) was significantly higher than
females (2.38 +/- 1.08, range 0.8-5.2 microM/l). When patients were grouped
according to age, it was observed that F- concentration was significantly
higher in patients with age groups 21-70 (2.86 +/- 1.05) than those with
age group 13-20 years (1.42 +/- 0.531). Thus F- concentration correlated
with age and sex, being higher in males and above 20 years. Despite
appreciable clearance of F- (39-90%) across the peritoneum, patients on
CAPD showed higher serum F- concentration than those on HD (3.1 +/- 1.97 vs
2.5 +/- 1.137 microM/l). Of the total 39 patients on dialysis 39% had their
serum F- concentration above 3.0 microM/l, posing the risk of renal
osteodystrophy.
相似文献
6.
AR Jones BSC AJP Sandison FRCS WJ Owen MS FRCS 《International journal of clinical practice》1997,51(5):294-295
Pre-clerking of all patients undergoing elective general surgical operations was introduced at our hospital in an attempt to reduce an unacceptably high operation cancellation rate. A prospective audit has been performed on the effect of this policy on the cancellation rate. Before the introduction of pre-clerking there was a marked seasonal variation in the number of patients who failed to attend for surgery, which could be explained by absence on holiday. This seasonal variation disappeared after the start of pre-clerking clinics, but there has been no reduction in the number of cancellations for medical reasons. 相似文献
7.
Dai Z Weichenhan D Wu YZ Hall JL Rush LJ Smith LT Raval A Yu L Kroll D Muehlisch J Frühwald MC de Jong P Catanese J Davuluri RV Smiraglia DJ Plass C 《Genome research》2002,12(10):1591-1598
Knudson's two-hit hypothesis postulates that genetic alterations in both alleles are required for the inactivation of tumor-suppressor genes. Genetic alterations include small or large deletions and mutations. Over the past years, it has become clear that epigenetic alterations such as DNA methylation are additional mechanisms for gene silencing. Restriction Landmark Genomic Scanning (RLGS) is a two-dimensional gel electrophoresis that assesses the methylation status of thousands of CpG islands. RLGS has been applied successfully to scan cancer genomes for aberrant DNA methylation patterns. So far, the majority of this work was done using NotI as the restriction landmark site. Here, we describe the development of RLGS using AscI as the restriction landmark site for genome-wide scans of cancer genomes. The availability of AscI as a restriction landmark for RLGS allows for scanning almost twice as many CpG islands in the human genome compared with using NotI only. We describe the development of an AscI-EcoRV boundary library that supports the cloning of novel methylated genes. Feasibility of this system is shown in three tumor types, medulloblastomas, lung cancers, and head and neck cancers. We report the cloning of 178 AscI RLGS fragments via two methods by use of this library. 相似文献
8.
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability 总被引:1,自引:15,他引:1
La Spada AR; Peterson KR; Meadows SA; McClain ME; Jeng G; Chmelar RS; Haugen HA; Chen K; Singer MJ; Moore D; Trask BJ; Fischbeck KH; Clegg CH; McKnight GS 《Human molecular genetics》1998,7(6):959-967
X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG
repeat expansion in the first exon of the androgen receptor (AR) gene.
Disease-associated alleles (37-66 CAGs) change in length when transmitted
from parents to offspring, with a significantly greater tendency to shift
size when inherited paternally. As transgenic mice carrying human AR cDNAs
with 45 and 66 CAG repeats do not display repeat instability, we attempted
to model trinucleotide repeat instability by generating transgenic mice
with yeast artificial chromosomes (YACs) carrying AR CAG repeat expansions
in their genomic context. Studies of independent lines of AR YAC transgenic
mice with CAG 45 alleles reveal intergenerational instability at an overall
rate of approximately 10%. We also find that the 45 CAG repeat tracts are
significantly more unstable with maternal transmission and as the
transmitting mother ages. Of all the CAG/CTG repeat transgenic mice
produced to date the AR YAC CAG 45 mice are unstable with the smallest
trinucleotide repeat mutations, suggesting that the length threshold for
repeat instability in the mouse may be lowered by including the appropriate
flanking human DNA sequences. By sequence-tagged site content analysis and
long range mapping we determined that one unstable transgenic line has
integrated an approximately 70 kb segment of the AR locus due to
fragmentation of the AR YAC. Identification of the cis - acting elements
that permit CAG tract instability and the trans -acting factors that
modulate repeat instability in the AR YAC CAG 45 mice may provide insights
into the molecular basis of trinucleotide repeat instability in humans.
相似文献
9.
Differential targets of CpG island hypermethylation in primary and metastatic head and neck squamous cell carcinoma (HNSCC) 总被引:3,自引:0,他引:3
Smiraglia DJ Smith LT Lang JC Rush LJ Dai Z Schuller DE Plass C 《Journal of medical genetics》2003,40(1):25-33
Head and neck squamous cell carcinomas (HNSCC) often metastasise to the cervical lymph nodes. It is known for HNSCC as well as other cancers that progression from normal tissue to primary tumour and finally to metastatic tumour is characterised by an accumulation of genetic mutations. DNA methylation, an epigenetic modification, can result in loss of gene function in cancer, similar to genetic mutations such as deletions and point mutations. We have investigated the DNA methylation phenotypes of both primary HNSCC and metastatic tumours from 13 patients using restriction landmark genomic scanning (RLGS). With this technique, we were able to assess the methylation status of an average of nearly 1300 CpG islands for each tumour. We observed that the number of CpG islands hypermethylated in metastatic tumours is significantly greater than what is found in the primary tumours overall, but not in every patient. Interestingly, the data also clearly show that many loci methylated in a patient's primary tumour are no longer methylated in the metastatic tumour of the same patient. Thus, even though metastatic HNSCC methylate a greater proportion of CpG islands than do the primary tumours, they do so at different subsets of loci. These data show an unanticipated variability in the methylation state of loci in primary and metastatic HNSCCs within the same patient. We discuss two possible explanations for how different epigenetic events might arise between the primary tumour and the metastatic tumour of a person. 相似文献
10.
P?Mallick J?Chakrabarti Mallick B?Guha AR?Khuda-BukhshEmail author 《BMC complementary and alternative medicine》2003,3(1):7