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排序方式: 共有230条查询结果,搜索用时 15 毫秒
1.
Mesut Akarsu Murat Meral Sakine Bahceli Dilek Solmaz Hasan Kayahan Mujde Soyturk Hale Akpinar 《Digestive endoscopy》2007,19(1):49-51
Fascioliasis is a worldwide zoonotic infection with fasciola hepatica and fasciola gigantica. The zoonoses are particularly endemic in sheep‐raising countries and are also endemic in Turkey. Clinical features of fascioliasis relate to the stage and intensity of infection. Fasciola hepatica infection comprises two stages: hepatic and biliary, with different signs and symptoms. Cholestatic symptoms may be sudden, but, in some cases, they may be preceded by a long period of fever, eosinophilia and vague gastrointestinal symptoms. We reported a case with fever and upper‐quadrant abdominal pain since 3 months that comes from an area endemic for fasciola hepatica, with suspected imaging about fasciola hepatica in common bile duct on ultrasonography. After that, fasciola hepatica was extracted with endoscopic retrograde cholangiography. 相似文献
2.
Kahraman S Akarsu C Cengiz G Dirican K Sözen E Can B Güven C Vanderzwalmen P 《Human reproduction (Oxford, England)》1999,14(3):726-730
In this study the fertility and outcome of intracytoplasmic sperm injection (ICSI) using megalohead spermatozoa from the ejaculates and testicles was evaluated. Seventeen males with megalohead and pinhead sperm forms in their ejaculate were studied in 22 cycles. A high number of sperm heads without tails and abundant round spermatid forms were commonly observed. Round-headed spermatozoa were seldom accompanied by these severely abnormal spermatozoa. The majority of megalohead spermatozoa were observed to have multiple tails, were predominant in the sample, and were used for ICSI. Ejaculated megalohead spermatozoa were used for ICSI in 15 cycles, while testicular spermatozoa were used in seven cycles where there were no vital spermatozoa or spermatozoa of low vitality in the ejaculate. The same abnormal morphology was observed in the testicles as in the ejaculated spermatozoa in the same males. Mean (+/- SD) low motility 4.7 +/- 5.6% and sperm count (3.8 +/- 4.19 x 10(6)) were common findings in these severely teratozoospermic patients. A low fertilization rate (43.2%) was achieved by using megalohead sperm forms (group I, n = 17) in comparison with the control group (60.2%) which had zero normal sperm morphology according to strict criteria (group II, n = 30) (P <0.01). Furthermore, a low pregnancy rate (9.1%) was obtained in the megalohead sperm group in comparison with the control group (40%) (P <0.05). Low fertilization and pregnancy rates may be due to a high incidence of chromosomal abnormalities from severely defective spermatozoa in the ejaculate. Couples should be counselled and warned about possible low fertilization and pregnancy rates with ICSI when only pinhead and megalohead forms with a high number of sperm heads without tails are present in the ejaculate. 相似文献
3.
A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype? 总被引:3,自引:0,他引:3 下载免费PDF全文
A N Akarsu O Akhan B S Sayli U Sayli G Baskaya M Sarfarazi 《Journal of medical genetics》1995,32(6):435-441
Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people with severe hand and foot deformities who were born to two affected parents. This is the first example of SPD subjects manifesting a very distinctive phenotype, suggesting that they must be homozygous for this condition. The typical characteristic clinical features in these subjects are as follows: (1) short hands with wrinkled fatty skin and short feet; (2) complete soft tissue syndactyly involving all four limbs; (3) polydactyly of the preaxial, mesoaxial, and postaxial digits of the hands; (4) loss of the normal tubular shape of the carpal, metacarpal, and phalangeal bones, so as to give polygonal structures; (5) loss of the typical structure of the cuboid and all three cuneiform bones while the talus calcaneus and navicular bones remain intact; (6) large bony islands instead of metatarsals, most probably because of cuboid-metatarsal and cuneiform-metatarsal fusions; and (7) severe middle phalangeal hypoplasia/aplasia as well as fusion of some phalangeal structures that are associated with the loss of normal phalangeal pattern. We report seven subjects with this phenotype from three different branches of a very large SPD pedigree exhibiting the same phenotype with minimal variation. In mice, the Polysyndactyly (Ps) mutation shows a pattern of synpolydactyly very similar to that of human SPD, suggesting that they may well be homologous mutations. A molecular genetic study is currently under way to determine the chromosomal location of the SPD locus in humans and to identify the corresponding homologous region in mice. 相似文献
4.
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region 总被引:10,自引:0,他引:10
Akarsu AN; Turacli ME; Aktan SG; Barsoum-Homsy M; Chevrette L; Sayli BS; Sarfarazi M 《Human molecular genetics》1996,5(8):1199-1203
Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that
occurs for 0.01-0.04% of blind people. In the majority of familial cases
reported so far, this condition is inherited as an autosomal recessive
trait. We have recently used a group of 17 GLC3 families with a minimum of
two affected offspring and consanguinity in most of the parental generation
and mapped the first GLC3 locus (GLC3A) to the 2p21 region. Six families
did not show any linkage to the GLC3A locus and thus provided evidence for
genetic heterogeneity of this disorder. A total of eight families unlinked
to the 2p21 region were used to search for the chromosomal location of the
second GLC3 locus. Herein, we describe mapping of a new locus (designated
GLC3B) for primary congenital glaucoma to the short arm of chromosome 1
(1p36.2-36.1) that is situated centromeric to the neuroblastoma and
Charcot-Marie-Tooth type 2A (CMT2A) loci. A total of 17 DNA markers were
genotyped from this region of chromosome 1. Four families showed no
recombination with the two markers D1S2834 and D1S402 with a maximum lod
score of 4.510 and 4.157 respectively. Pairwise and multipoint linkage
analysis and inspection of the haplotypes revealed that the remaining four
families are not linked to this part of chromosome 1, thus providing
further evidence that at least one more locus for the autosomal recessive
form of GLC3 must exist in the genome. Based on the recombination events,
the overall linkage map of this region is: tel-D1S1192-D1S1635-D1S1193 -
(D1S1597/-D1S489/D1S228)- [GLC3B/D1S2834/D1S402] - (D1S1176/D1S507/D1S407)
- D1S2728-(MFAP2/D1S170) - D1S1368 - D1S436- D1S1592-cen.
相似文献
5.
Balci S Demirtas M Civelek B Piskin M Sensoz O Akarsu AN 《American journal of medical genetics》1999,87(5):399-406
Triphalangeal thumb-polysyndactyly (TPT-PS) is an isolated limb malformation consisting of pre- and postaxial polysyndactyly of hands and feet. The only family reported so far is of Dutch origin, and the genetic mapping study localized the TPT-PS locus at chromosome region 7q36 where the isolated triphalangeal thumb (TPT) anomaly has also been mapped. It was suggested that TPT-PS is a phenotypic variation of isolated TPT, and the same ancestral mutation may produce both phenotypes. Here we report on the second family with this malformation from the Turkish population. The characteristic findings in this family are triphalangeal thumb, webbing between 3rd, 4th, and 5th fingers associated with bony synostosis in the distal phalanges of the same fingers, and pre- and postaxial polysyndactyly of feet. Some individuals show a more severe phenotype with a complete syndactyly of all fingers giving a "cup-like" appearance to the hands. Genetic linkage study with DNA markers D7S1823, D7S550, D7S559, and D7S2423 demonstrated that this family is also linked to chromosome band 7q36. Identification of a second family from a distinct ethnic background suggests that TPT-PS and isolated TPT are not caused by the same ancestral mutation as it was originally anticipated. 相似文献
6.
7.
Vicdan K Işik AZ Akarsu C Sözen E Cağlar G Dingiloğlu B Tuncay G 《European journal of obstetrics, gynecology, and reproductive biology》2007,134(1):79-82
OBJECTIVE: The purpose of this study was to determine the incidence of retained embryos and its impact on pregnancy outcome in the absence of known risk factors like blood and mucus in the transfer catheter. The factors that could be associated with embryo retention were also investigated. STUDY DESIGN: The results of all embryo transfer procedures performed at Ankara IVF Center between January 2003 and December 2005 were analyzed retrospectively. Three hundred and five embryo transfers, in which the transfer catheter was contaminated with blood or mucus, were excluded and the remaining 1,454 embryo transfers, with clean catheter, were enrolled into the study. Both fresh (n=1,422) and frozen (n=32) embryo transfers were included. RESULTS: The overall incidence of retained embryos during study period was 2.8% (41/1,454) following a clean initial embryo transfer. The mean age of the female partner, mean number of retrieved oocytes, MII oocytes, fertilized oocytes and the embryos transferred were similar in patients with and without retained embryos. The 1,454 embryo transfers performed during the study period resulted in 712 pregnancies (49%), of which 639 proved to be clinical pregnancies with a rate of 44%. The implantation rate was 22.8%. Pregnancy outcomes including positive beta-hCG (58.5% versus 48.7%), biochemical (4.7% versus 5.1%) and clinical pregnancy rates (53.6% versus 43.6%), implantation rate (24% versus 22.7%) and multiple pregnancy rate (36.3% versus 44.7%) were not significantly different between patients with and without retained embryos. An influence of individual physicians and embryologists on the frequency of retained embryos was not detected. The type of embryo transfer catheter used did not show any difference in terms of embryo retention. The cleavage stages of embryos were not different between groups. Although it was not statistically significant, the number of embryos transferred appeared to be a potentially confounding factor for retained embryos (p=0.053) and it might be significant in a slightly larger sample. When transfer of one or two embryos was compared to three or more embryos, the likelihood of retained embryos increased from 1.2% (4/321) to 3.2% (37/1,133). CONCLUSION: Retained embryos in the transfer catheter and immediate retransfer of them have no adverse impact on clinical pregnancy and implantation rates unless other previously reported signs of difficult transfer are also observed. 相似文献
8.
9.
Akman T Akarsu M Akpinar H Resmi H Taylan E Sezer E 《Digestive diseases and sciences》2012,57(2):458-464
Background
Oxidative stress and reduced microvascular flow are important factors in the pathogenesis of inflammatory bowel disease (IBD). The increased oxidative stress reduces the eriytrocyte deformability. However, in IBD, there are no studies in the literature which evaluate erythrocyte deformability. 相似文献10.