Abstract：
OBJECTIVE:To determine the prevalence of compound genetic abnormalities in patients who are carriers of cystic fibrosis mutations. DESIGN:Case report. SETTING:Tertiary referral center for male infertility. PATIENT(S):Between 2000 and 2005, 65 patients were identified to be carriers of cystic fibrosis transmembrane regulator gene (CFTR) mutations or have a polymorphism of the polythymidine tract of intron 8. INTERVENTION(S):Patients were evaluated for male factor infertility. Additional genetic testing for karyotype abnormalities or Y chromosome microdeletions was performed when indicated because of evidence of impaired spermatogenesis during surgical sperm retrieval or on semen analysis. A comparison of similar patients is in the published literature. MAIN OUTCOME MEASURE(S):Characteristics of patients with compound genetic abnormalities presenting to an academic male fertility practice. Comparison to similar patients reported in the literature. RESULT(S):Two patients (3.1%) out of 65 were identified in our database to have compound genetic abnormalities. One patient had a W1282X mutation while the other had an I148T mutation. Both patients had deletions of AZF b + c regions. There were no karyotype abnormalities identified in our database. An additional two patients with compound CFTR mutations and Y chromosome microdeletions were identified in the literature. Three patients in the literature had compound CFTR mutations and karyotype abnormalities. CONCLUSION:Compound genetic abnormalities in CFTR mutation patients can be a contributing factor when abnormal spermatogenesis is encountered. A secondary genetic etiology should be considered in these types of patients.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Karpman E,Williams DH 4th,Wilberforce S,Lipshultz LIdoi
10.1016/j.fertnstert.2006.07.1537subject
Has Abstractpub_date
2007-06-01 00:00:00pages
1468.e5-8issue
6eissn
0015-0282issn
1556-5653pii
S0015-0282(06)04410-4journal_volume
87pub_type
杂志文章abstract：:The gestational age and the serum human chorionic gonadotropin (hCG) at which an intrauterine pregnancy can be detected using transvaginal ultrasonography (TVU) is not known. In this study, ten pregnant women were serially scanned with TVU from the time of initial positive pregnancy test, to determine when an intraute...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)59884-7
更新日期：1988-05-01 00:00:00
abstract：OBJECTIVE:To review the association between autoimmunity and reproductive failure. DESIGN:A MEDLINE search done from 1965 to 1996. More than 300 original and review articles were evaluated, from which the most relevant were selected. RESULT(S):Autoimmune processes now are accepted widely as one of the possible mechan...
journal_title：Fertility and sterility
pub_type： 杂志文章,评审
doi：10.1016/s0015-0282(97)81351-9
更新日期：1997-04-01 00:00:00
abstract：OBJECTIVE:To investigate the feasibility of utilizing low-dose hCG alone to complete follicle maturity in a natural cycle, without the need for antecedent exogenous FSH stimulation. DESIGN:Case series. SETTING:Academic fertility program. PATIENT(S):Normally ovulatory women with infertility thought to be predominantl...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2016.01.021
更新日期：2016-05-01 00:00:00
abstract：OBJECTIVE:To review recent advances in understanding the role of leptin in the physiology and pathophysiology of reproduction, with a focus on relevant clinical situations. DESIGN:A MEDLINE computer search was performed to identify relevant articles. RESULT(S):Leptin, an adipocyte hormone important in regulating ener...
journal_title：Fertility and sterility
pub_type： 杂志文章,评审
doi：10.1016/s0015-0282(01)03010-2
更新日期：2002-03-01 00:00:00
abstract：OBJECTIVE:To analyze prognostic factors that are associated with a discordant outcome in egg recipients sharing oocytes from the same donor. DESIGN:Matched case-control single-center study. SETTING:Private infertility clinic. PATIENT(S):Four hundred forty-four recipients (222 pairs) sharing oocytes from the same don...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2007.01.054
更新日期：2007-12-01 00:00:00
abstract：OBJECTIVE:To evaluate the association between female cystic fibrosis (CF) carrier status and in vitro fertilization (IVF) response and outcomes. The presence of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in male carriers has been associated with infertility, yet possible adverse effects o...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2014.07.1234
更新日期：2014-11-01 00:00:00
abstract：OBJECTIVE:To determine whether retinoic acid (RA) can regulate the expression of interleukin (IL)-6 in human endometrial cells in a manner that might be beneficial to women with endometriosis. DESIGN:In vitro study. SETTING:Academic medical center. PATIENT(S):Patients with endometriosis and controls. INTERVENTION(S...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(00)00483-0
更新日期：2000-05-01 00:00:00
abstract：:Chronic and transient hyperprolactinemia have been associated with luteal phase dysfunction in both spontaneously cycling women and those subjected to ovarian hyperstimulation by exogenous gonadotropins. It is the objective of the in vitro and in vivo studies reported herein to examine the possibility that prolactin (...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：OBJECTIVE:To determine the ectopic pregnancy rate with fresh versus frozen-thawed embryo transfers, and factors associated with ectopic pregnancy in patients undergoing IVF-ET. DESIGN:Retrospective analysis. SETTING:Institutional IVF center. PATIENT(S):A total of 3,183 patients who received 3,340 blastocysts transfe...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2014.11.023
更新日期：2015-03-01 00:00:00
abstract：:Well-designed and -conducted clinical trials are needed to further advance the field for reproductive medicine. However, current reporting of outcomes of trials is ambiguous and disparate. In this review it is offered that the preferred outcome for clinical trials in reproductive medicine should be live birth. Multipl...
journal_title：Fertility and sterility
pub_type： 杂志文章,评审
doi：10.1016/j.fertnstert.2014.03.026
更新日期：2014-05-01 00:00:00
abstract：OBJECTIVE:To determine the normative cut-off score that defines hirsutism among Chinese women, and the effect of age, menstrual irregularities, and polycystic ovaries on the same. DESIGN:Cross-sectional, population-based study. SETTING:A multistage systematic cluster random sampling among 16 communities from two rura...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2011.06.040
更新日期：2011-09-01 00:00:00
abstract：OBJECTIVE:To analyze the expression of angiopoietin 1 (ANGPT1) in pigmented and nonpigmented endometriosis implants and specify its role in the interaction of angiogenic factors. DESIGN:Experimental retrospective study. SETTING:University hospital. PATIENT(S):Eighty-two sections from 201 laparoscopic tissue samples ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2003.09.032
更新日期：2004-03-01 00:00:00
abstract：OBJECTIVE:To evaluate the effects of a prolonged duration of gonadotropin-releasing hormone agonist (GnRH-a) in pituitary down-regulation for controlled ovarian hyperstimulation (COH) on the live-birth rate in nonendometriotic women undergoing in vitro fertilization and embryo transfer (IVF-ET). DESIGN:Retrospective c...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2014.03.030
更新日期：2014-07-01 00:00:00
abstract：OBJECTIVE:To examine the literature systematically in order to identify prospective comparative trials answering the following question: Is vitrification of human embryos associated with a higher postthawing survival rate as compared with slow freezing? DESIGN:Systematic review and meta-analysis. SETTING:University-b...
journal_title：Fertility and sterility
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.fertnstert.2007.06.010
更新日期：2008-07-01 00:00:00
abstract：:Building families through the adoption of children has been supported by human society throughout history. The ethical appropriateness of patients donating embryos to other patients for family building, or for research, is well established and is affirmed by this Committee. The use of the term ''adoption'' for embryos...
journal_title：Fertility and sterility
pub_type： 杂志文章,实务指引
doi：10.1016/j.fertnstert.2016.03.017
更新日期：2016-07-01 00:00:00
abstract：:We present a rare case of a congenital isolated missing segment of the fallopian tube, including hysterosalpingographic and laparoscopic images. We conclude that when this occurs without concomitant müllerian anomalies, the mechanism of development would not be expected to be associated with an increase in renal abnor...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2006.01.012
更新日期：2006-06-01 00:00:00
abstract：:Moderate ovarian hyperstimulation syndrome occurred after LA was administered to control menorrhagia in an anephric woman who required hemodialysis. We postulate that women who require dialysis may be at special risk for the development of this syndrome. ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)54142-9
更新日期：1991-02-01 00:00:00
abstract：OBJECTIVE:To report the occurrence of spontaneous regression of three endometrial polyps detected by hysteroscopy. DESIGN:Case series. SETTING:A uterine imaging unit in an academic medical center. PATIENT(S):Three patients diagnosed as having an endometrial polyp of 5-8 mm on hysteroscopy. INTERVENTION(S):Patient d...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2009.04.054
更新日期：2009-08-01 00:00:00
abstract：OBJECTIVE:To evaluate the effect of reproductive history on the outcome of different procedures in assisted reproductive technologies (ART) comparing IVF, ICSI, and cryopreserved embryo transfer (CPE). DESIGN:Prospective registration of ART cycles and their outcomes. SETTING:One hundred three reproductive programs in...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(03)00760-x
更新日期：2003-09-01 00:00:00
abstract：OBJECTIVE:To predict pregnancy outcome and multiple gestation using a common parameter by which hCG values are made comparable independently of the day of blood sampling. DESIGN:Retrospective study. SETTING:University-based IVF program. PATIENTS:One hundred twenty IVF pregnancies conceived between November, 1995 and...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(02)03278-8
更新日期：2002-09-01 00:00:00
abstract：OBJECTIVE:To investigate whether antitrophoblast antibodies are associated with unexplained recurrent miscarriages, we used choriocarcinoma cells JEG-3, since these cells are negative for class I and II antigens, but they do express HLA-G, resembling an antigen expression of endovascular and interstitial trophoblasts. ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2011.11.014
更新日期：2012-02-01 00:00:00
abstract：OBJECTIVE:To develop a rapid, sensitive, and reproducible hypoosmotic swelling test kit for the assessment of plasma membrane integrity of human sperm in vitro. DESIGN:Prospective comparison of results with the World Health Organization (WHO) method, performed simultaneously. SETTING:Infertility center in a major cit...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2007.02.003
更新日期：2008-01-01 00:00:00
abstract：OBJECTIVE:To study the controversial association between human leukocyte antigen-G (HLA-G) 14 bp polymorphism and recurrent pregnancy loss (RPL). We performed a meta-analysis of studies in the literature that enrolled only women of European countries who experienced RPL spontaneously or after undergoing IVF. DESIGN:Sy...
journal_title：Fertility and sterility
pub_type： 杂志文章,meta分析
doi：10.1016/j.fertnstert.2019.05.003
更新日期：2019-09-01 00:00:00
abstract：:In a rat model, sodium carboxymethylcellulose (SCMC) was compared with normal saline and 32% dextran 70 in the prevention of surgically induced intraperitoneal adhesions. The 32% dextran 70 was similar to normal saline in the initial prevention of adhesions, and both appeared less effective than SCMC. After lysis of t...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)47910-0
更新日期：1984-06-01 00:00:00
abstract：OBJECTIVE:To investigate whether polymorphisms at the promoter or 5'-untranslated region of annexin A5 gene (ANXA5) influence miscarriage. DESIGN:Case-control study and nested case-control study. SETTING:Hospitals. PATIENT(S):A total of 264 patients with two to nine recurrent pregnancy losses (RPLs) and 195 fertile ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2013.06.020
更新日期：2013-10-01 00:00:00
abstract：:On day 9 of an artificial menstrual cycle (28 day) in the rhesus monkey, endometrial epithelia and stroma and myometrial smooth muscle cells showed positive immunoreactivity for estradiol (E2) and progesterone (P) receptor. On day 23 a reduction of staining for E2 and P receptor was observed for epithelial cells in en...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/s0015-0282(16)53531-6
更新日期：1990-05-01 00:00:00
abstract：OBJECTIVE:To describe a rare case of a cervico-isthmic pregnancy with anterior placenta percreta that was treated at 34 weeks of gestation by removing the placenta and the attached uterine wall in one piece. DESIGN:Case report. SETTING:Tertiary university hospital. PATIENT(S):A 32-year-old woman was diagnosed with a...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2007.06.007
更新日期：2008-06-01 00:00:00
abstract：OBJECTIVE:To evaluate semen characteristics, testicular volume, and hormonal levels of normal fertile men requiring vasectomy for sterilization. DESIGN:Retrospective study. SETTING(S):Academic medical centers. PATIENT(S):A total of 889 patients underwent a vasectomy for sterilization. INTERVENTION(S):None. MAIN OU...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2005.09.032
更新日期：2006-04-01 00:00:00
abstract：OBJECTIVE:To study antimüllerian hormone (AMH) from gestation week 0-7. DESIGN:Longitudinal study of 85 pregnant women with AMH and reproductive hormones sampled during conception cycle and early pregnancy until week 7. SETTING:Fertility clinic. PATIENT(S):Of 85 pregnant women, 69 had a singleton pregnancy, 1 a twin...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2016.07.1113
更新日期：2016-11-01 00:00:00
abstract：OBJECTIVE:To measure IVF effectiveness, which is defined as the cumulative incidence of live delivery over real time in women after commencing IVF treatment. DESIGN:Population-based retrospective cohort study. SETTING:IVF clinics in Western Australia (WA). PATIENT(S):All women ages 20-44 years inclusive at start of ...
journal_title：Fertility and sterility
pub_type： 杂志文章
doi：10.1016/j.fertnstert.2011.01.130
更新日期：2011-04-01 00:00:00
