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排序方式: 共有342条查询结果,搜索用时 31 毫秒
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LEE JS IM HH JUNG Y JUNG IS JANG JY CHUN YK CHO YD KIM JO CHO JY KIM YS SHIM CS & KIM BS 《Neurogastroenterology and motility》2006,18(6):493-494
Background: Recent development of extracorporeal magnetic stimulation (ECMS) which uses current‐changing magnetic fields allows the induction of electrical stimulation in the desired deep tissue. Recent study showed the sacral nerve stimulation reduces corticoanal excitability that may play a functional role in anal continence mechanisms. Preliminary study shows that ECMS of sacral nerve can modify pelvic floor function and expel rectal balloon in patients with pelvic floor dyssynergia (PFD). Aims: To evaluate the effect of ECMS compared with biofeedback therapy (BF) in patients with PFD. Methods and Materials: Thirty‐eight patients who fulfilled Rome II criteria for PFD by colon transit time and anorectal function tests, were randomly treated with 8 sessions of ECMS (2/weeks; n = 19) at prone position or BF (2/weeks; n = 19) at sitting position. Stimulation parameters were set at 50–80% of maximum intensity, 10 and 50 Hz frequency, 3 s burst length with 3 and 6 s off using arm‐typed stimulator (BioCom‐1000, Mcube Co., Korea). Symptom scores for constipation with/without anorectal function test were repeatedly measured after each treatment. Response was defined as 50% or more decreased symptom score after treatment (partial response: 30–50%, poor: <30%). Results: Fifteen patients (age 49.1 ± 13.4 years, mean ± SD; 4 men) completed 8 session of BF and 14 patients (54.5 ± 17.6 years, 3 men) completed 8 session of ECMS. Four patients of BF group discontinued treatment due to unsatisfactory therapeutic effect (n = 1) and withdrew consent (n = 3) and 5 patients of ECMS group discontinued treatment because of same reasons (n = 1, 4). Total symptom scores were significantly decreased after treatment of 8 session in both treatment groups (13.4 ± 6.6 vs. 4.3 ± 4.0 for BF, p = 0.009; 14.9 ± 5.6 vs. 3.4 ± 4.0 for ECMS, p < 0.001). Bowel movements per week were also significantly increased after treatment in both groups (median 2 vs. 7 for BF, p = 0.035; median 2 vs. 7 for ECMS, p = 0.008). Thirteen out of 15 patients showed response in BF group and 12 out of 14 showed good response in ECMS group. No adverse effects in both groups. Conclusions: ECMS is as effective as BF for the treatment of PFD. Long‐term effect of ECMS for the patients with pelvic floor dyssynergia need to be evaluated in the near future. 相似文献
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Fidder HH Olschwang S Avidan B Zouali H Lang A Bardan E Picard O Bar-Meir S Colombel JF Chowers Y 《American journal of medical genetics. Part A》2003,(3):240-244
Ulcerative colitis (UC) and Crohn's disease (CD) are heterogeneous disorders characterized by chronic intestinal inflammation. Genetic predisposition is a major risk factor in both diseases. The CARD15 (NOD2) gene has been implied as a candidate gene in the pathogenesis CD. Our aim was to delineate the frequency of three missense and one frameshift variant of CARD15 in Israeli Jewish CD and UC patients. DNA was extracted from blood samples from 238 unrelated inflammatory bowel disease (IBD) patients, 68 with UC and 170 with CD. The DNA was genotyped for two missense mutations, R675W and G881R, and one frameshift mutation, 980FS981X. Mutations in CARD15 were observed with significantly greater frequency in CD patients (46/170, 27%) than in UC patients (7/68, 10%) (P = 0.005). Homozygous and compound heterozygous carriers were restricted to seven (4%) patients with CD as compared to none of the UC patients (P = 0.01). Similar rates in Ashkenazi and non-Ashkenazi Jewish patients were observed. Age-of-onset of disease was lower in Ashkenazi mutation carriers as compared to non-carriers of Ashkenazi origin (18.7 +/- 8.6 years vs. 25.8 +/- 13.4 years, respectively, P = 0.03). No other phenotypic characteristics could distinguish mutation carriers from non-carriers. We conclude that germline mutations in the CARD15 gene are more frequently found in CD than UC patients and appear to predict an earlier age-of-onset in Ashkenazi Jewish patients. No association could be demonstrated between CARD15 mutations and specific disease course or behavior. 相似文献
6.
Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection 总被引:3,自引:7,他引:3
van der Ven K; Peschka B; Montag M; Lange R; Schwanitz G; van der Ven HH 《Human reproduction (Oxford, England)》1998,13(1):48-54
We evaluated the frequency of congenital chromosomal aberrations in a
sample of 305 couples included in an intracytoplasmic sperm injection
(ICSI) programme. Twenty individuals (3.3%) with congenital chromosomal
abnormalities could be identified. The following types of abnormalities
were observed: reciprocal translocations (n = 7), Robertsonian
translocations (n = 3), inversions (n = 3), other structural aberrations (n
= 4) and sex chromosome aberrations (n = 3). The rate of chromosomally
abnormal males (10/305, 3.3%) lay within the expected range for patients
with reduced semen quality. Surprisingly, 50% (10/20) of all abnormal
karyotypes were contributed by the female partner of ICSI patients. These
data confirm the higher incidence of chromosomal aberrations in infertile
populations as compared with the baseline population risk. Additionally,
the data imply that in some cases of male factor infertility a hidden
female chromosomal factor may be present, which cannot be identified by
standard clinical evaluation. In conclusion, we recommend chromosomal
analysis in both partners of couples undergoing ICSI treatment.
相似文献
7.
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP) 总被引:2,自引:2,他引:2
Roepman R; Bauer D; Rosenberg T; van Duijnhoven G; van de Vosse E; Platzer M; Rosenthal A; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(6):827-833
The gene for the most frequent from of X-linked retinitis pigmentosa
(XLRP), RP3, has been assigned by genetic and physical mapping to a segment
of less than 1000 kbp, which is flanked by the marker DXS1110 and the
ornithine transcarbamylase (OTC) gene. In search of microdeletions, we have
screened the DNA of 30 unrelated patients with XLRP by employing a
representative set of YAC-derived DNA fragments that were generated by
restriction enzyme digestion and PCR amplification. In one of these
patients, a 6.4 kbp microdeletion was detected which was not present in the
DNA of 444 male controls. A cosmid contig spanning the deletion was
constructed and used to isolate cDNAs from retina-specific libraries. Exons
corresponding to these expressed sequences as well as other putative exons
were identified by sequencing more than 30 kbp of the critical region. So
far, no point mutations in these putative exon sequences have been
identified.
相似文献
8.
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
9.
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family 总被引:3,自引:0,他引:3
Fagerheim T; Nilssen O; Raeymaekers P; Brox V; Moum T; Elverland HH; Teig E; Omland HH; Fostad GK; Tranebjaerg L 《Human molecular genetics》1996,5(8):1187-1191
Hereditary hearing impairment affects about 1 in 1000 newborns. In most
cases hearing loss is non-syndromic with no other clinical features, while
in other families deafness is associated with specific clinical
abnormalities. Analysis of large families with non-syndromic and syndromic
deafness have been used to identify genes or gene locations that cause
hearing impairment. The present report describes a large Norwegian family
with autosomal dominant non-syndromic, progressive high tone hearing loss
with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was
obtained with the microsatellite marker D1S196. Analysis of recombinant
individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104
and D1S466. The region contains several attractive candidate genes. This
report supports the idea of extensive genetic heterogeneity in hereditary
hearing impairment and represents the first localization of a deafness gene
in a Norwegian family.
相似文献
10.
Two girls (a 5 year old and a 21 month old) experiencing mononucleosis syndrome with coincidental human herpesvirus (HHV)-7 and Epstein-Barr virus (EBV) infections are described. One patient had primary HHV-7 infection and reactivated EBV infection. The other had primary HHV-7 and EBV infections. These cases indicated that HHV-7 is capable of inducing infectious mononucleosis-like illness. Multiple herpesvirus infection in one of the patients also suggests that interaction among herpesviruses can occur in vivo. The consequence of this interaction may have clinical implications. 相似文献