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排序方式: 共有658条查询结果,搜索用时 31 毫秒
1.
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
2.
3.
J. Finsterer G. Miltenberger H. Rauschka A. Janecke 《European journal of neurology》2006,13(10):1149-1152
The objective of this study was to report a novel exon-1 mutation in the myelin protein zero (MPZ) gene, resulting in axonal Charcot–Marie–Tooth neuropathy with recurrent hyper-CK-emia. In a 64-year-old woman slowly progressive distal lower limb weakness, muscle cramps in the lower limb muscles, and stocking-type numbness had developed from the age of 61. Neurologic examination revealed discrete hip flexor weakness, weakness for foot extension, diffuse wasting of the distal lower limb muscles, reduced patella tendon reflexes, and absent Achilles tendon reflexes. There was recurrently elevated creatine kinase with a maximum of 607 U/l ( n , <145 U/l). Stimulation of the peroneal and tibial nerves did not evoke a muscular response. Electromyography was neurogenic. Biopsy of the right sural nerve showed diffuse axonal degeneration and loss of axons of all diameters. Muscle biopsy showed increased fiber-size variability, angulated fibers, internalized nuclei, accumulations of nuclei, grouped atrophic muscle fibers, and fiber splitting. Molecular genetic analysis by PCR and direct nucleotide sequencing revealed the heterozygous C59T exon-1 MPZ gene mutation, resulting in the amino acid exchange S20F of the MPZ signal protein domain (leader peptide). The novel C59T mutation in the leader peptide of the MPZ gene is pathogenic and manifests as severe, late-onset, axonal, symmetric sensorimotor polyneuropathy (CMT2) and hyper-CK-emia. 相似文献
4.
5.
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.
Thompson Debra A.; Janecke Andreas R.; Lange Jessica; Feathers Kecia L.; Hubner Christian A.; McHenry Christina L.; Stockton David W.; Rammesmayer Gabriele; Lupski James R.; Antinolo Guillermo; Ayuso Carmen; Baiget Montserrat; Gouras Peter; Heckenlively John R.; den Hollander Anneke; Jacobson Samuel G.; Lewis Richard A.; Sieving Paul A.; Wissinger Bernd; Yzer Suzanne; Zrenner Eberhart; Utermann Gerd; Gal Andreas 《Human molecular genetics》2006,15(9):1559
Human Molecular Genetics 相似文献
7.
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
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.
Molecular genetics of type 1 glycogen storage disease 总被引:2,自引:0,他引:2
Glycogen storage disease type 1 (GSD 1) comprises a group of autosomal recessive inherited metabolic disorders caused by deficiency of the microsomal multicomponent glucose-6-phosphatase system. Of the two known transmembrane proteins of the system, malfunction of the catalytic subunit (G6Pase) characterizes GSD 1a. GSD 1 non-a is characterized by defective microsomal glucose-6-phosphate or pyrophosphate/phosphate transport due to mutations in G6PT (glucose-6-phosphate translocase gene) encoding a microsomal transporter protein. Mutations in G6Pase and G6PT account for approximately 80 and approximately 20% of GSD 1 cases, respectively. G6Pase and G6PT work in concert to maintain glucose homeostasis in gluconeogenic organs. Whereas G6Pase is exclusively expressed in gluconeogenic cells, G6PT is ubiquitously expressed and its deficiency generally causes a more severe phenotype. Rapid confirmation of clinically suspected diagnosis of GSD 1, reliable carrier testing, and prenatal diagnosis are facilitated by mutation analyses of the chromosome 11-bound G6PT gene as well as the chromosome 17-bound G6Pase gene. 相似文献
10.
Janecke AR Meins M Sadeghi M Grundmann K Apfelstedt-Sylla E Zrenner E Rosenberg T Gal A 《Human mutation》1999,13(2):133-140
Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least six different loci for USH1, USH1B maps on chromosome 11q13, and the MYO7A gene has been shown to be defective in USH1B. MYO7A encodes myosin VIIA, an unconventional myosin, and it consists of 48 coding exons. In this study, MYO7A was analysed in 34 unrelated Usher type I patients by single-strand conformation polymorphism analysis and direct sequencing. We identified a total of 12 novel and unique mutations, all single base changes. In addition, we found a previously reported nonsense mutation (C31X) on nine alleles of a total of six patients from Denmark. 相似文献