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Asian Journal of Andrology 1999年第1期1卷 73-77页

作者： Silvia B Copelli Serge Lumbroso Francoise Audran Eliana H Pellizzari Juan J Heinrich Selva B Cigorraga Charles Sultan Héctor E Chemes Laboratore d'Hormonologie Hopital Lapeyronie et INSER U 439 Pathologie des recepteurs nucleaires.Unite d'Endocrinologie et Gynecologie PediatriquesHopital A.de VillenetiveMontpellier-France CEdIE-CONICet Division de EndocrinologtaHospital de Niflos"Ricardo Gutierrez"Buenos AiresArgentina

Aim:To study a 46,XY newborn patient with a phenotype suggestive of an androgen insensitivity syndrome toconfirn an anomaly in the AR ***:Genomic dNA from leukocytes was isolated in order to analyze SRYgene by PCR and sequencing of the eight exons of AR *** of human Leydig cell mesenchymal precursorsfrom the testis was performed in order to study testosterone production and response to hCG stimulation in ***:Surgical exploration disclosed two testes,no Wolffian structures and important Mullerian *** gene was present in peripheral blood *** of the AR gene evidenced a previously unreported Gto T transversion in exon 1 that changed the normal glutamine 153 codon to a stop *** cell culturesproduced sizable amounts of testosterone and were responsive to hCG ***:This E153X nonsensepoint mutation has not been described previously in cases of AIS,and could lead to the synthesis of a short truncated(153 vs 919 residues)non functional AR probably responsible for the phenotype of complete androgen insensitivitysyndrome(CAIS).

关键词： testicular feminization androgen receptor point mutation Mullerian ducts

Sexual health and fertility for individuals with inflammatory bowel disease

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World Journal of Gastroenterology 2019年第36期25卷 5423-5433页

作者： Romain Leenhardt Pauline Riviere Patrick Papazian Isabelle Nion-Larmurier Guillaume Girard david Laharie Philippe Marteau Sorbonne Universite Hepatologie Gastroenterologie et Saint Antoine IBD NeTwork APHP Hopital St Antoine Paris 75012 Ile-de-France France CHU de Bordeaux Hopital Haut-Leveque Service d'Hepatogastroenterologie CMC Magellan Bordeaux 33604 Pessac France Hopital Bichat Service des maladies infectieuses et tropicales APHP Paris 75018 France Service de gynecologie obstetrique Hopital Armand Trousseau Paris 75012 Ile-de-France France

The impact of a chronic disease such as inflammatory bowel disease (IBd) on sexual functioning and body image can significantly impair the quality of life of patients. This review considers the sexual and fertility aspects of IBd patients and their daily management. Modern IBd healthcare management should include appropriate communication on sexuality and consider psychological, physiological, and biological issues. Patients with IBd have less children than the general population, and voluntary childlessness is frequent. The most influential factors reported by IBd patients who experience fertility alteration are psychological and surgery-related problems. Pregnancy is a major concern for patients, and any pregnancy for IBd patients should be closely followed-up to keep the chronic disease in a quiescent state. Preconceptional consultation is of great help.

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Fertility Pregnancy Sexuality

Thyroid Function in Pregnant Women from a West-African Population

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Open Journal of Molecular and Integrative Physiology 2018年第1期8卷 1-11页

作者： Bonaventure Awede Mariane SHounnou Christiane Tshabu-Aguemon Grace Adehan Francois djrolo Marcellin Amoussou-Guenou Anatole Laleye unite de Physiologie Faculte des Sciences de la SanteUniversite d’Abomey-CalaviCotonouBenin unite de gynecologie et d’obstetrique Faculte des Sciences de la SanteUniversite d’Abomey-CalaviCotonouBenin unite de Biophysique et de Medecine Nucleaire Facultédes Sciences de la SanteUniversite d’Abomey-CalaviCotonouBenin unite d’Endocrinologie et de Nutrition Faculte des Sciences de la SanteUniversite d’Abomey-CalaviCotonouBenin unite de Biologie Humaine Faculte des Sciences de la SanteUniversite d’Abomey-CalaviCotonouBenin

Thyroid dysfunction is frequent in pregnant women and is often associated with an increased risk of adverse maternal and fetal outcome. In the present work, thyroid function of pregnant women from Benin republic was studied. Two hundred forty (240) pregnant women, without thyroid disease history, have been included in the study. A blood sample was drawn for measurement of TSH, free T3 and free T4 serum levels. From the first to the third trimester, plasma levels of free T3 and free T4 decreased when plasma levels of TSH increased. Using recommendations of the 2011 American Thyroid Association (ATA) guidelines, thyroid dysfunction was observed in 24.17% of subjects. Hypothyroidism was present in 22.50% of subjects with 19.17% of subclinical hypothyroidism, 0.83% of overt hypothyroidism and 2.50% of hypothyroxinemia and hyperthyroidism was observed in 1.67% of subjects. An increase from 15.52% to 28.07% was observed in the frequency of hypothyroidism from the first to the third trimester of pregnancy. When an upper cut-off value of 4 mU/L was used for TSH, as recommended in the 2017 ATA guidelines, prevalence of thyroid disorders was 14.58% with 12.91% of hypothyroidism but no hypothyroidism was observed in women in the first trimester of pregnancy. A rise in hypothyroidism frequency was observed when pregnant women age increased. Hypothyroidism was very common in pregnant women in Benin. To allow accurate assessment of thyroid status in pregnant women in Benin, pregnancy specific range for plasma level of TSH and thyroid hormones should be established.

关键词： Pregnancy Thyroid Function Hypothyroidism

A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome

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Asian Journal of Andrology 1999年第Z1期 73-77页

作者： Silvia B Copelli,SergeLumbroso,FrancoiseAudran,ElianaHPellizzari,JuanJHeinrich,SelvaBCigorraga,Charles Sultan,HéctorEChemes Laboratore d'Hormonologie Hopital Lapeyronie et INSER U 439 Pathologie des recepteurs nucleaires. unite d'Endocrinologie et gynecologie Pediatriques Hopital A. de Villenetive Montpellier-France CEdIE-CONICet division de Endocrinologta Hospital de Niflos "Ricardo Gutierrez" Buenos Aires Argentina Laboratoire d'Hormonologie Hopital Lapeyronie et INSERM U 439 Pathologie des recepteurs nucleaires. Unie d'Endocrinologie et gynecologie Pediatriques Hopital A. de Villeuve Montpellier-France Laboratoire d'Hormonologie Hopital Lapeyronie et INSERM U 439 Pathologie des recepteurs nucleaires. Unie d'Endocrinologie et gynecologie Pediatriques Hopital A. de Villeuve Montpellier-France CEdIE-CONICet division de Endocrinologia Hospital de Nifios "Ricardo Gutierrez" Buenos Aires Argentina CEdIE-CONICet division de Endocrinologia Hospital de Nifios "Ricardo Gutierrez" Buenos Aires Argentina CEdIE-CONICet division de Endocrinologia Hospital de Nifios "Ricardo Gutierrez" Buenos Aires Argentina Laboratoire d'Hormonologie Hopital Lapeyronie et INSERM U 439 Pathologie des recepteur nucleaires. unite d'Endocrinologie et gynecologie Pediatriques Hopital A. de Villenuve Montpellier-France CEdIE-CONICet division de Endocrinologia Hospital de Niflos "Ricardo Gutierrez" Buenos Aires Argentina

Aim: To study a 46, XY newborn patient with a phenotype suggestive of an androgen insensitivity syndrome toconfirn an anomaly in the AR gene. Methods: Genomic dNA from leukocytes was isolated in order to analyze SRYgene by PCR and sequencing of the eight exons of AR gene. Isolation of human Leydig cell mesenchymal precursorsfrom the testis was performed in order to study testosterone production and response to hCG stimulation in ***: Surgical exploration disclosed two testes, no Wolffian structures and important Mullerian derivatives. TheSRY gene was present in peripheral blood leukocytes. Sequencing of the AR gene evidenced a previously unreported Gto T transversion in exon 1 that changed the normal glutamine 153 codon to a stop codon. Interstitial cell culturesproduced sizable amounts of testosterone and were responsive to hCG stimulation. Conclusion: This E153X nonsensepoint mutation has not been described previously in cases of AIS, and could lead to the synthesis of a short truncated(15

关键词： testicular feminization androgen receptor point mutation Mullerian ducts

Transfatty Acids （TFAs） in Cord Blood and Cord Tissue, in France

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Journal of Food Science and Engineering 2017年第9期7卷 413-422页

作者： Claude Billeaud Nicole Combe Leslie Couedelo Wafae Belcadi dominique dallay Jean-Joel Leng Carole Vaysse CIC Pddiatrique CHU Pellegrin Universite de Bordeaux Bordeaux 33000 France ITERG Laboratoire de Nutrition Metabolisme et Sante Universite de Bordeaux Bordeaux 33000 France Services de gynecologie-obstetrique Maternite Pellegrin Universite de Bordeaux Bordeaux 33000 France

Background： Recent studies suggest that dietary transfatty acids （TFAs） at relative high levels （i） increase the risk of coronary heart disease, （ii） inhibit the metabolism of linoleic acid and consequently increase requirement for essential fatty acids （EFAs）. The aim of this prospective study was to estimate TFAs the placental transfer of TFAs to the foetus cord blood and cord tissues in France. Material： TFAs consumption was measured in 59 mother-foetus couples. TFAs transferring across the placenta were estimated by comparative measurement （Capillary Gaz Chromatography） of TFAs in mother＇s blood lipids （n = 59）, cord blood lipids and cord tissue plasma lipids （n = 25） cord red blood tissue （n = 25） and umbilical vessels （n = 15）. Results-discussion： TFA deposition in cord blood is 0.58% slightly lower than mother level. TFAs incorporation in total lips of cord show selectivity of transfer with lower 18：1 t in cord blood and preferential transfer of diene 18：2 tc in cord blood. There is competition between the 18：2 tc in cholesterol esters （CE） with the linolenic acid and a negative correlation in PLT of arterial tissues with the 18：2 tc and C20：4 n-6 or arachidonic acid （AA）, then there is the same competition in PE of venous tissue. But there is no effect on growth in our population of term newborn. Conclusions： Our results confirm the placental TFAs transfer, a better incorporation in the fetus CE; we demonstrated a selective transfer for the 18：2 9 trans 12 cis （18：2 tc） and a negative correlation （r = -0.76） with the linoleic acid and AA （r = 0.98）. This competition, and the presence of these TFAs in cord tissues, even at a low TFAs consumption, remind us to be a potential risk for the fetus concerning EFA metabolism and growth.

关键词： TFAs pregnancy cord blood and tissues neonate diet.

妊娠早期丙泊酚麻醉诱导和苏醒时的预测效应室靶浓度

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麻醉与镇痛 2012年第1期8卷 34-39页

作者： Nicolas Mongardon, Md Frederique Servin, Md, Phd Mathilde Perrin, Md Ennoufous Bedairia, Md Sylvie Retout, Phd Chadi Yazbeck, Md, Phd Philippe Faucher, Md Philippe Montravers, Md, Phd Jean-Marie desmonts, Md Jean Guglielminotti, Md 谢珺田（译） departement d＇Anesthesie et de Reanimation Chirurgicale departementd＇Epidemiologie Biostatistique et Recherche Clinique Service de gynecologie et d＇obstetrique Assistance Publique-Hopitaux de Paris Hopital Bichat-Claude Bernard Paris France

背景妊娠时孕妇对镇静药的需要量减少，据称与孕酮有关。然而，妊娠和孕酮对丙泊酚的需要量产生怎样的影响，至今没有人彻底的研究过。本研究的目的是确定在妊娠早期，麻醉诱导意识消失期间和麻醉苏醒睁眼时所用丙泊酚的剂量和预测效应... 详细信息

背景妊娠时孕妇对镇静药的需要量减少，据称与孕酮有关。然而，妊娠和孕酮对丙泊酚的需要量产生怎样的影响，至今没有人彻底的研究过。本研究的目的是确定在妊娠早期，麻醉诱导意识消失期间和麻醉苏醒睁眼时所用丙泊酚的剂量和预测效应室靶浓度是否减低。同时观察血孕酮的含量与使意识消失时丙泊酚剂量和效应室靶浓度有无相关性。方法我们研究了57例ASA1-2级拟行终止妊娠的患者和55例行经阴道卵泡穿刺体外受精的对照患者。浓度为1％的丙泊酚以200ml／min的输注速度实施麻醉。记录在诱导时意识丧失过程中所用丙泊酚的剂量和预测效应室靶浓度（Schnider模型）。同时预测在麻醉苏醒睁眼时的效应室靶浓度。血孕酮的量在手术结束时测定。结果在意识消失时，妊娠患者较非妊娠患者所用丙泊酚剂量的平均值（±1个标准差）显著减少（分别为108．57±20．04mg和117．59±17．98mg，P=0．014）。与之相似，意识消失时预计的丙泊酚效应室靶浓度在妊娠患者有显著的降低。在麻醉苏醒睁眼时丙泊酚的预计靶浓度没有差别。没有观察到血孕酮水平与意识消失时丙泊酚的剂量和效应室靶浓度的相关性。结论早期妊娠时使意识消失的丙泊酚的剂量和预计的效应室靶浓度减低。孕酮并不能解释这一结果。

关键词：效应室靶浓度妊娠早期麻醉诱导丙泊酚预测经阴道卵泡穿刺意识消失麻醉苏醒

分娩后大便失禁的危险因素:525例患者前瞻性研究

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世界核心医学期刊文摘（妇产科学分册） 2005年第3期1卷 60-61页

作者： Roman H. Robillard P.- Y. Payet E. 刘亦恒 Serv. de gynecologie et obstetrique Polyclinique- H.otel Dieu CHU de Clermont-Ferrand 63000 Clermont-Ferrand France

Objective. To determine the prevalence of fecal incontinence after childbirth and to identify the risk factors. Methods. This was a prospective observational study with a consecutive inclusion of 525 women who delivered over a three months period. Women were questioned about their fecal continence four days and six weeks after delivery. Results. The incidence of fecal incontinence four days and six weeks after childbirth was respectively 8.8% and 3.3% . The risk factors for fecal incontinence at 4 days after childbirth were instrumental delivery by forceps (adjusted odds ratio 8.64, 95% confidence interval 3.55- 21.0, p d unassisted delivery at home (adjusted OR 8.06, 95% CI 1.30- 50.0, p=0.025). Independent risk factors for the presence of fecal incontinence 6 weeks later were: instrumental forceps delivery (adjusted OR 10.8, 95% CI 2.82- 41.3, p=0.001), unassisted delivery at home (adjusted OR 50.0, 95% CI 3.09- 802, p=0.006), bi parietal diameter of the newborn >93mm (adjusted OR 4.56, 95% CI 1.46- 14.1, p=0.009) and maternal age >30 years (adjusted OR 4.60, 95% CI 1.11- 19.1, p=0.036). Conclusion. Fecal incontinence is common after childbirth and its prevalence is predominantly associated with instrumental delivery, unassisted delivery at home, bi parietal diameter of the newborn and maternal age.

关键词：大便失禁产钳助产排便控制前瞻性观察