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71.
Simon-Bouy B Taillandier A Fauvert D Brun-Heath I Serre JL Armengod CG Bialer MG Mathieu M Cousin J Chitayat D Liebelt J Feldman B Gérard-Blanluet M Körtge-Jung S King C Laivuori H Le Merrer M Mehta S Jern C Sharif S Prieur F Gillessen-Kaesbach G Zankl A Mornet E 《Prenatal diagnosis》2008,28(11):993-998
OBJECTIVE: We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal benign form of HP. METHOD: The coding sequence of the tissue nonspecific alkaline phosphatase (TNSALP) gene was analyzed by DNA sequencing, and 3D modeling was used to locate the mutated amino acids with regard to the functional domains of TNSALP. RESULTS: Although reported ultrasound signs were heterogeneous, two mutated alleles were found in 18 of the 19 cases studied, indicating recessive transmission of the disease. Functional domains of TNSALP were affected by 74% of missense mutations. In all the cases, including one with only a heterozygous mutation, molecular, biological, and familial data do not corroborate the hypothesis of prenatal benign HP. The mutation c.1133A>T observed in the prenatal benign form of HP and common in USA was not found in this series. CONCLUSION: The results point out the prenatally detectable allelic heterogeneity of HP. The nature of the detected mutations and the evidence of recessive inheritance do not support these cases being affected with prenatal benign HP. 相似文献
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René Hornung Sonja Spichtig Ana Baños Michèle Stahel Roland Zimmermann Martin Wolf 《Lasers in medical science》2011,26(2):205-212
Preterm labor is a common obstetric complication. Clinical evaluation of cervical ripening to predict preterm labor is very
inaccurate. We used frequency-domain near-infrared spectroscopy (FD-NIRS) to non-invasively investigate the changes of the
optical properties (i.e., absorption and scattering of light) in the uterine cervix during regular pregnancies. Optical properties
of uterine cervices were measured in 13 patients at various time points of regular pregnancies. For each gestational trimester,
mean values with 95% confidence intervals were calculated for oxy-, deoxy-, and total hemoglobin concentration (O2Hb, HHb, tHb), tissue oxygen saturation and water content and statistically significant differences between the trimesters
were determined. The wavelength-dependent scattering (scatter power) was calculated by an exponential fit. O2Hb, and tHb and the scatter power showed an increase as a function of the gestational age. Differences between the second
and the third trimester were statistically significant. HHb and the water content showed no significant change over time.
Our results show that FD-NIRS is a promising diagnostic tool for providing information about cervical content of hemoglobin,
water, and extracellular matrix proteins. We propose this technology to assess the cervical ripening and eventually to predict
preterm labor. 相似文献
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The primary result of this series is that each patient participated actively during his or her procedures. The concept of selective sensory block, therefore, which was the authors' overriding reason for using CEA in secondary tendon surgery, also may be beneficial to tetraplegic patients. Nystrom and Nystrom [2] also came to this conclusion. The use of CEA in tetraplegia is and must be used only in exceptional cases. If the usual surgical techniques seem to be inadequate for a given patient, and if the surgeon wishes to assess muscle tonicity and the effect of tenodesis in vivo, CEA may be used. The patients in the authors' series have been so satisfied with the technique that this dynamic approach to the tetraplegic upper leg may be as advantageous for the patient as it is for the surgeon. 相似文献
79.
Leptin is a hypoxia-inducible gene 总被引:3,自引:0,他引:3
Guerre-Millo M Grosfeld A Issad T 《Obesity research》2002,10(8):856; author reply 857-856; author reply 858
80.
Loichot C Grima M De Jong W Helwig JJ Imbs JL Barthelmebs M 《European journal of pharmacology》2002,454(2-3):241-247
The effects of oxytocin on renin secretion by denervated kidney were investigated in vivo, by infusing the peptide directly into the renal artery of anaesthetized rats. Renin secretion was calculated by the renal veno-arterial difference in plasma renin activity multiplied by renal plasma flow. The intra-renal arterial (i.r.a.) infusion of oxytocin (1.5 or 15 ng/kg/min, 10 min) induced a sixfold increase in renin secretion as compared to vehicle-treated controls, without effects on renal blood flow, mean arterial blood pressure, glomerular filtration rate or natriuresis. The effect of oxytocin (1.5 ng/kg/min) was prevented by pretreatment with an oxytocin receptor antagonist, desGly-NH(2),d(CH(2))(5)[D-Tyr(2),Thr(4),Orn(8)]vasotocin] (5.6 microg/kg bolus i.v. 20 min before oxytocin infusion, followed by 2.8 microg/kg/min i.r.a.). Nadolol (2.5 mg/kg i.v.), a beta-adrenoceptor antagonist, also blocked the oxytocin-induced increase in renin secretion. These results show that oxytocin is able to stimulate renin release by activating oxytocin receptors but that beta-adrenoceptors also seem to be involved. 相似文献