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排序方式: 共有1025条查询结果,搜索用时 15 毫秒
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J Zguricas P F Dijkstra E S Gelsema P J Snijders H P Wüstefeld H W Venema S E Hovius D Lindhout 《Journal of medical genetics》1997,34(1):55-62
Triphalangeal thumb (TPT) is a rare congenital disorder characterised by a long, finger-like thumb with three phalanges instead of two. It can occur as an isolated defect, in association with other abnormalities of the hands and feet, or as a part of a syndrome. Sporadic cases have been described, but it is usually inherited as an autosomal dominant trait. In order to examine skeletal morphology in different phenotypic variations of this disorder, we performed metacarpophalangeal pattern profile analysis in one kindred with this disorder. A characteristic profile occurred in all affected people, based on the individual lengthening or shortening of the thumb bones. Comparison of the affected and unaffected people from this family with people with a different genetic background suggests that the described profile is specific for TPT and could be used as a helpful diagnostic tool in syndromes which include TPT. 相似文献
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In hypoxemic intrauterine growth-retarded fetuses (IUGR) there is a reduction in the incidence of fetal movements and in fetal heart rate variation. A causal relationship with the impairment of fetal oxygenation has been suggested. In 16 IUGR fetuses and in 13 normally grown fetuses maternal hyperoxygenation was applied for 40 min to increase fetal PO2 levels. All IUGR fetuses had abnormal Doppler blood velocity waveforms of the umbilical artery suggesting an impaired uteroplacental exchange. The effect of hyperoxygenation on fetal breathing and body movements and on fetal heart rate was evaluated. In the IUGR fetuses there was a significant increase in fetal breathing and body movements and in heart rate variation during hyperoxygenation as compared to the preceding control period of 40 min. No significant changes in fetal breathing and body movements were found in the normally grown control fetuses. A surprising observation was the increase of the number of heart rate decelerations after discontinuation of the maternal hyperoxygenation. It is concluded that in IUGR fetuses the increase in fetal heart rate variation and the increase in the incidence of breathing and body movements during maternal hyperoxygenation substantiates the relationship between these variables and the oxygenation status of the fetus. 相似文献
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TomJ. Snijders Frank-Erik Leeuw UrsulaM.H. Klumpers L.Jaap Kappelle Jan Gijn 《Journal of neurology》1992,239(Z2):S1-S3
Oral session 1: General neurology 相似文献
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C J Meijer A J van den Brule P J Snijders T Helmerhorst P Kenemans J M Walboomers 《IARC scientific publications》1992,(119):271-281
An HPV screening strategy based on general primer-mediated and type-specific PCR is described. A relationship was found between an increasing HPV prevalence rate and a higher degree of cervical dysplasia (up to 100% in cervical carcinoma). Based on these prevalence studies in the Netherlands and preliminary data showing that progression of cervical lesions is always associated with persistent infection of oncogenic/high-risk HPV types, a cervical cancer screening scheme incorporating PCR-based HPV detection is proposed for use in industrialized countries. 相似文献
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C. J. Snijders PhD A. Vleeming PhD R. Stoeckart PhD 《Clinical biomechanics (Bristol, Avon)》1993,8(6):285-294
This study deals primarily with the stability of the base of the spine. The sacroiliac joints are vulnerable to shear loading on account of their predominantly flat surfaces. This raises the question of what mechanisms are brought into action to prevent dislocation of the sacroiliac joints when they are loaded by the weight of the upper part of the body and by trunk muscle forces. First a model is introduced to compare load transfer in joints with spherical and with flat joint surfaces. Next we consider a biomechanical model for the equilibrium of the sacrum under load, describing a self-bracing effect that protects the sacroiliac joints against shear according to ‘the sacroiliac joint compression theory’, which has been demonstrated in vitro. The model shows joint stability by the application of bending moments and the configuration of the pelvic arch. The model includes a large number of muscles (e.g. the gluteus maximus and piriformis muscles), ligaments (e.g. the sacrotuberous, sacrospinal, and dorsal and interosseous sacroiliac ligaments) as well as the coarse texture and the ridges and grooves of the joint surfaces. 相似文献
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J M Walboomers A M de Roda Husman P J Snijders H V Stel E K Risse T J Helmerhorst F J Voorhorst C J Meijer 《Journal of clinical pathology》1995,48(8):728-732
AIM--To assess the value of detecting human papillomavirus (HPV) DNA in false negative archival cervical smears in population based screening programmes for cervical cancer. METHODS--Cytomorphologically classified false negative archival Pap smears (n = 27) taken from 18 women up to six years before cervical cancer was diagnosed were blindly mixed with 89 smears from hospital patients with a variety of gynaecological complaints and tested for HPV by the polymerase chain reaction (PCR). Corresponding cervical cancer biopsy specimens were also available for HPV analysis. Neither the examining cytopathologist nor the molecular biologist was aware of the study design. RESULTS--HPV DNA was detected in the smears of 16 patients with cervical cancer missed previously by cytology. HPV 16 and 18 were found predominantly in those smears taken up to six years before the diagnosis of cervical cancer. The smears of the two remaining patients were reclassified as inadequate for cytology or contained no suitable DNA for PCR. In 15 patients the same HPV type could be found in the smears and the cervical cancer biopsy specimens. CONCLUSIONS--The results indicate that high risk HPV types can be detected in archival smears classified as false negative on cytology and that cytological screening errors may be reduced if combined with PCR testing for HPV. 相似文献
10.
de Vrijer B Snijders MP Troostwijk AL Thé S Iding RJ Friese S Smit DA Schierbeek JM Brandts H van Kempen PJ van Buuren I Monza G 《Maturitas》2000,34(1):47-55
OBJECTIVE: To examine the efficacy and tolerability of a new matrix patch delivering estradiol (E2 Matrix) at doses of 0.05 and 0.10 mg per day (Estraderm MX 50, 100) in the treatment of moderate to severe postmenopausal symptoms. METHODS: A total of 254 postmenopausal women were randomized to receive treatment with E2 Matrix 0.10 mg (N = 86), E2 Matrix 0.05 mg (N = 82), or placebo (N = 86) in a double-blind, double-dummy fashion for a period of 12 weeks continuously. Patches were applied twice weekly to the buttocks with each patient wearing two patches at all times. The primary efficacy criterion was the difference from baseline of the mean number of moderate to severe hot flushes per 24 h during the last 2 weeks of treatment. Other efficacy variables included reduction in hot flushes at 4 and 8 weeks, reduction in daytime flushing and night sweats, and Kupperman Index at 4, 8, and 12 weeks. RESULTS: E2 Matrix 0.10 and 0.05 mg were both significantly superior to placebo in reducing hot flushes per 24 h after 4, 8, and 12 weeks of treatment (P < 0.001). Also, for all other efficacy parameters studied, both dosage strengths of E2 Matrix were statistically significantly superior to placebo at all time points (P < 0.001). Local tolerability was good in both groups. A slight increase in estrogen related adverse effects (breast tenderness, leukorrhoea) was seen with the 0.10 mg patch. Adhesion of patches and compliance were good. Overall systemic tolerability was good in both treated groups. However, a 4.8% overall incidence of endometrial hyperplasia was observed in patients with an intact uterus. CONCLUSIONS: This new matrix patch offers an effective and well tolerated dosage form for delivery of 0.05 and 0.1 mg estradiol per day. It may be particularly suitable for those women who experience local sensitivity to alcohol-containing systems. In light of the observed hyperplasia after treatment in five patients, estrogen therapy should as yet be supplemented monthly with a progestogen in women with an intact uterus. 相似文献