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排序方式: 共有595条查询结果,搜索用时 15 毫秒
1.
Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports 总被引:3,自引:0,他引:3
Ian Findlay Tamás Tóth Paul Matthews Tamás Marton Philip Quirke Zoltán Papp 《Clinical genetics》1998,53(2):92-95
Trisomy 18 is the second most common genetic defect after trisomy 21, almost 90% of which are due to additional chromosome from the mother. The parental origin of the additional chromosome can, if required, be determined by two methods: karyotyping, which takes several weeks; or, more recently, by polymerase chain reaction (PCR) which is often problematic. Fluorescent PCR of small tandem repeats (STRs) can determine the parental origin in the majority of cases within 5 h. Although the incidence of paternal origin is known for both trisomy 21 and trisomy 18, this technique can rapidly determine the parental origin in cases where there is insufficient samples to perform conventional tests. Determining parental origin by these methods may also have clinical significance in the diagnosis of chromosomal translocations or in the diagnosis of genetic disease using linkage analysis. 相似文献
2.
Between 1983-1987 16 patients with advanced stage Hodgkin disease, most of whom in an immunsuppressed, immundeficient state, were treated with a new "post-COPP", or "post-ABVD" reserve-protocol. In all cases megavoltage Co radiotherapy and COPP (CVPP) or ABVD polychemotherapy had previously been. Compared with the previously administered polychemotherapy the new 3-component cytostatic agent was well tolerated by the patients. The LEAMP-protocol therapy is therefore recommended in cases of ineffective combined radiochemotherapy (chemoresistance) or intolerance to chemotherapy. In four cases prolonged, complete, in nine cases partial remission was achieved and in more than a half of the patients favourable clinical effects and changes were experienced. In two cases temporary, partial remission was seen. One cases, because of the short period of treatment could not be evaluated. On the basis of the longitudinal observations the results achieved seemed subjectively and objectively favourable. The LEAMP-protocol was found to be well tolerated and satisfactorily effective. 相似文献
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Visual evoked potentials (VEPs) elicited by foveal presentation of words were compared to brain potentials evoked by the same words in a condition where subjects had to make a saccadic eye movement in order to perceive the words (saccade-related brain potentials, SRPs). Subjects had to categorize the words responding with a button press to stimuli belonging to the target (infrequent, P = 0.2) category. The VEP and SRP waveforms showed divergences in the early (up to 250 ms) components, but a marked similarity between the late components. Principal Component Analysis also revealed the same relationship between the two types of brain responses. Peak latency of the late SRP components measured from saccade offset showed an apparent processing advantage over the corresponding late components of VEPs. The N3 component, indexing semantic processing of visual patterns, peaked between 310 and 375 ms in the SRPs, while in the VEPs it appeared between 410 and 470 ms. The P4 component, associated with final stimulus evaluation, showed a similar latency benefit in favour of SRPs (420-500 ms vs 530-590 ms in VEPs). The mean reaction time was 74 ms shorter in the eye movement condition (measured from saccade offset) than in the VEP condition (703 vs 777 ms). The question of what kind of processes may contribute to the differences in mean RTs and to the latencies of the late components between the two conditions are discussed. We suggest that the late components (P3, N3 and P4) of the VEP and the SRP, respectively, index identical brain processes. 相似文献
6.
The salts of fenoprofen formed with different metals have shown various crystal forms and solubility. The calcium salt has proved the most suitable characteristics for tablet and capsule production. Dissolution and absorption parameters of this substance were studied using in vitro and in vivo methods. The absorption rate and the correlation between pH and membrane diffusion rate constant were investigated in vitro using the "Sartorius" apparatus. The dissolution rate--depending on pH--was investigated by the oscillometric method. The in vivo disintegration of an experimental sample was compared with a commercial preparation. The comparison has been documented by endoscopic photography. 相似文献
7.
Fundus-first laparoscopic cholecystectomy 总被引:1,自引:1,他引:0
I. G. Martin S. P. L. Dexter J. Marton J. Gibson J. Asker A. Firullo M. J. McMahon 《Surgical endoscopy》1995,9(2):203-206
Removal of the gallbladder with commencement of dissection at the fundus is well recognized as a safe technique during difficult open cholecystectomy because it minimizes the risks of damage to the structures in or around Calot's triangle. We report here the routine employment of liver retractors and fundus-first dissection during laparoscopic cholecystectomy (LC) as an alternative to techniques previously described.Retraction of the liver and fundus-first dissection was used in 53 patients who underwent laparoscopic cholecytectomy. There were 16 male and 37 female patients. Seven were operations performed during an acute admission and 20 had moderate or severe adhesions involving the gallbladder. Thirteen patients had a preexisting abdominal incision.The procedure was successful in 52 patients (98%), but in one patient it was converted to open operation because of dense adhesions. Median duration of operation was 90 min (range 35–240 min). There was no mortality and two complications (persistent right upper quadrant pain for 2 weeks after operation and bile leakage from the gallbladder bed).The facility to retract the liver and carry out a fundus-first dissection extends techniques developed for open surgery into the laparoscopic arena. It offers the surgeon the safety and versatility during laparoscopic cholecystectomy that it confers during conventional open surgery.Presented at the annual meeting of the Society of American Gastrointestinal Endoscopic Surgeons (SAGES), Nashville, Tennessee, USA, 18–19 April 1994 相似文献
8.
Hajdú J Marton T Kozsurek M Pete B Csapó Z Beke A Papp Z 《Fetal diagnosis and therapy》2008,23(2):136-139
An abnormal course of the umbilical vein is a rare anomaly. Its association with the congenital absence of the ductus venosus is common. We found 3 cases of an abnormal course of the umbilical vein and an absent ductus venosus. In 2 of these cases, the umbilical vein turned down and continued in the internal iliac vein, and no ductus venosus was found. One of these pregnancies was terminated. From the continued pregnancy a growth-retarded baby was born. At follow-up examinations, mild microcephaly, mildly elevated levels of ammonia, delayed speech and mild muscular hypotonia were found. In the third case, the umbilical vein turned up from the level of umbilical ring and the anterior of the liver above the diaphragma and connected directly into the right atrium. Associated complex congenital heart malformations - transposition of the great arteries, and ventricular septal defect - were diagnosed prenatally. In the umbilical vein from the placenta to the umbilical ring, the flow was low velocity continuous; from the umbilical ring to the right atrium, the flow was biphasic high velocity (90 cm/s). Such an elevated blood flow could be a sign of increased cardiac preload. The long-term neurological follow-up of babies with prenatally diagnosed venous malformations is necessary. 相似文献
9.
Christian Dejaco Tobias De Zordo Daniel Heber Wolfgang Hartung Rainer Lipp Andre Lutfi Marton Magyar Dorothea Zauner Angelika Lackner Christina Duftner Jutta Horwath-Winter Winfried B. Graninger Josef Hermann 《Ultrasound in medicine & biology》2014,40(12):2759-2767
The purpose of this study was to investigate the value of real-time sonoelastography (RTS) of salivary glands for the diagnosis and assessment of glandular damage in primary Sjögren’s syndrome (pSS). After institutional review board approval, 45 pSS patients, 24 sicca patients and 11 healthy controls were investigated prospectively. Questionnaires were completed and Saxon and Schirmer tests and routine blood tests carried out in all patients. All patients underwent B-mode ultrasonography and RTS of parotid and submandibular glands. Abnormal findings were graded from 0 to 48 and from 0 to 16, respectively. Sialoscintigraphy was done according to a routine protocol; scoring ranged from 0 to 12. Statistical analysis comprised receiver operating characteristic curve and multivariate regression analysis. Patients with pSS had higher B-mode (median score = 25 [range: 2–44] vs. 9 [1–20], p < 0.001) and RTS (6.5 [2–13] versus 4 [1–9], p < 0.001) scores than controls with sicca syndrome, yielding areas under the curve of 0.83 and 0.85 (p < 0.05 each), respectively for pSS diagnosis. In cases with an inconclusive B-mode ultrasonography result, RTS (cutoff score: ≥6) led to a sensitive (66.7%) and specific (85.7%) classification of patients and sicca controls. In multivariate regression analysis, RTS (regression coefficient = –0.48, p = 0.005), but not B-mode ultrasonography, reflected impaired salivary gland function according to the Saxon test, whereas none of the subjective measures of dryness or discomfort were related to ultrasonography results. B-mode and RTS results were both associated with sialoscintigraphy scores (regression coefficient = 0.66, p < 0.001, and regression coefficient = 0.55, p = 0.001, respectively). Reproducibility of B-mode ultrasonography and RTS was good, with intra-class correlation coefficients of 0.93 (95% confidence interval: 0.57–0.98) and 0.93 (95% confidence interval: 0.79–0.98), respectively. In summary, RTS might be a useful adjunct to B-mode ultrasonography for diagnosis and assessment of salivary gland impairment in primary Sjögren’s syndrome. 相似文献
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