Twin ectopic pregnancy in a previous cesarean scar section and subsequent fertility.
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Adult↗
Biomedical subjects
D Marchesoni
Publications and source records attributed to D Marchesoni.
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
BACKGROUND: The aetiology of intrahepatic cholestasis of pregnancy is unknown, but more than 10 different MDR3 gene mutations have recently been identified. AIM: To evaluate the genetic contribution of the MDR3 gene in the pathogenesis of intrahepatic cholestasis of pregnancy in Italian subjects. METHODS: We performed a multicentre prospective case-control study, enrolling 80 women with intrahepatic cholestasis of pregnancy at the third trimester of pregnancy and 80 pregnant women without intrahepatic cholestasis of pregnancy. Genomic DNA was extracted from peripheral venous blood leucocytes using standard procedures. The polymerase chain reaction was used to amplify exon 14 of the MDR3 gene and the polymerase chain reaction products were sequenced using a Big Dye Terminator Cycle Sequencing kit. RESULTS: Three novel non-synonymous heterozygous mutations in exon 14 were found (4%; E528D, R549H, G536R) among the 80 intrahepatic cholestasis of pregnancy patients, whereas the pregnant controls were all negative for exon 14 polymorphisms. The three patients involved had normal GGT and bilirubin, but high levels of both ALT and serum bile acids. One had cholesterol bile stones. The outcome of pregnancy was normal for two (with vaginal delivery), while foetal distress was recorded in the third. CONCLUSIONS: These three novel mutations add further information on the involvement of the MDR3 gene in intrahepatic cholestasis of pregnancy. As in other studies, we found only heterozygous mutations that could cause an impaired transport protein function, not its absence (which is responsible for more severe liver disease). Different genetic backgrounds might justify the presence of novel MDR3 gene mutations.
ATP Binding Cassette Transporter, Subfamily B, Mem↗
The role of parity on neonatal respiratory outcome in patients with preterm premature rupture of membranes.
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Bronchopulmonary Dysplasia↗
Four primary malignancies successively occurred in a BRCA2 mutation carrier: a case report.
Carriers of BRCA2 germline mutation have a significantly increased lifetime risk of breast and ovarian cancer compared to non carriers. Several other carcinomas seem to be associated with BRCA2 mutations: pancreas, prostate, larynx, gallbladder, bile duct cancer, and malignant melanoma. We described a case of a 67-year-old BRCA2 mutation carrier of Caucasian, non-Jewish, ethnic origin who successively developed 4 primary malignancies in 30 months: breast ductal carcinoma, chronic lymphatic leukemia, ovarian serous papillary carcinoma, and endocervical adenocarcinoma. This is the first case of 4 primary malignancies in a BRCA mutation carrier, also occurred in such a short observation period. Chronic lymphatic leukemia and endocervical adenocarcinoma have not been yet associated to BRCA2 germline mutation.
Adenocarcinoma↗
[Management of gynecological tumors associated with BRCA1 and BRCA2 germline mutations. Case report and literature review].
Genetic investigation of BRCA1 and BRCA2 germline mutations is, nowadays, a diagnostic procedure with practical clinical applications. The role of this genes in DNA repair and stability and in cancer development is now well recognised. Most involved are breast and ovarian cancers, but, less frequently, other gynecological cancers like cervical, corpus uteri and Fallopian tubes cancers and also other non gynecological malignancies. We report the case of a 67-year-old patient with strong familiarity for breast cancer, with a BRCA2 germline mutation, who developed in 30 months 4 primary malignancies: in chronological order, breast cancer, chronic lymphatic leukemia, and synchronous ovarian and endocervical adenocarcinoma. A better knowledge of the biological and clinical behaviour of BRCA related cancers is of strategical importance in the management of patients with strong familiar neoplastic history or with genetic test positivity. An adequate counselling can help in the management of these cancers in the prevention and early diagnosis taking also into consideration the possibility of a prophylactic surgery.
Adenocarcinoma↗
[Hydronephrosis and acute renal failure in pregnant patient affected by solitary kidney never diagnosed before].
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Acute Kidney Injury↗
Postmenopausal hormone therapy and mammographic breast density.
OBJECTIVE: The aim of this study was to evaluate the effects of different types of hormone replacement therapy (HRT) on mammographic density. MATERIALS AND METHODS: In a prospective 1-year study, 103 postmenopausal women were randomized to receive tibolone 2.5 mg/die, continuous conjugated equine estrogens 0.625 mg/die plus medroxyprogesterone acetate (MPA) 5mg/die or placebo. Mammograms were performed at baseline and after 12 months of treatment. Mammographic density was quantified according to the Wolfe classification. RESULTS: After 12 months of HRT 16 of the 35 patients (45.1%) receiving continuous combined hormonal therapy showed an increase of breast density change in the Wolfe classification. After treatment with tibolone, an up grading in breast density, according to Wolfe's classification, was found in 2 of the 43 patients (2.3%). No changes were recorded in the 25 patients of the control group. The difference between the group treated with continuous combined hormonal therapy and the control group was highly significant (p<0.001). The difference in breast density between patients in treatment with tibolone and the control group was not statistically significant (p=0.34). DISCUSSION: Continuous combination HRT may be more commonly associated with an increase of mammography density than tibolone treatment.
Breast↗
Genetic thrombophilias and uterine artery Doppler velocimetry and preeclampsia.
OBJECTIVE: The aim of this study was to evaluate the correlation between genetic thrombophilic mutations, uterine artery Doppler at 24 weeks of gestation and preeclampsia. METHODS: In a case control study we performed the genetic analysis for Leiden mutation of factor V gene (FV), G20210A mutation of the prothrombin gene (PT) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene in 103 women that had already attended routine ultrasonography scanner at 20 weeks at our Department. RESULTS: The frequency of heterozygous carriers of the factor V Leiden was 17.4% in the women with preeclampsia and abnormal artery Doppler compared with 3.12% in the patients with normal pregnancies. This difference was statistically significant (P<0.05). The frequency of mutation G20210A of prothrombin gene was 1.5 vs. 4.3% between women with normal pregnancies and with preeclampsia. This difference is not statistically significant. The frequency of homozygous patients for the C677T mutation of MTHFR gene among the patients with preeclampsia was 21.7% and in the control group was 10.3%, but this difference is not statistically significant. No thrombophilic gene variants were found in women with preeclampsia and normal uterine artery Doppler. CONCLUSION: We demonstrated the important association between factor V Leiden mutation, abnormal uterine Doppler at 24 weeks and preeclampsia in our population.
Adult↗
Twenty-four hour ambulatory blood pressure in postmenopausal smokers and non-smokers on hormone therapy.
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Blood Pressure Monitoring, Ambulatory↗
Risk factors for type 2 diabetes in women attending menopause clinics in Italy: a cross-sectional study.
OBJECTIVE: To analyze risk factors for type 2 diabetes among women attending menopause clinics in Italy for counselling about the menopause. SUBJECTS: Women attending a network of first-level outpatient menopause clinics in Italy for general counselling about menopause or treatment of menopausal symptoms. METHODS: Cross-sectional study with no exclusion criteria. Type 2 diabetes was defined according to National Diabetes Data Groups Indications and the fasting blood glucose at an oral glucose tolerance test within the previous year. RESULTS: Out of the 44 694 considered in this analysis, 808 had a diagnosis of diabetes type 2 (1.8%). In comparison with women aged < 50 years, the multivariate odds ratios (OR) of type 2 diabetes were 1.31 (95% confidence interval (CI), 0.99-1.74) for women aged 50-52 years, 1.66 (95% CI, 1.27-2.17) at 53-56 years and 2.84 (95% CI, 2.20-3.67) in women aged > or = 57 years. Type 2 diabetes was less frequently reported in more educated women (OR high school/university vs. primary school = 0.44 (95% CI, 0.36-0.55)). Being overweight was associated with an increased risk of type 2 diabetes. In comparison with women reporting a low level of physical activity, the multivariate OR of type 2 diabetes was 0.67 (95% CI, 0.54-0.84) for women reporting regular physical activity. In comparison with premenopausal women, the multivariate OR of type 2 diabetes was 1.38 (95% CI, 1.03-1.84) in women with natural menopause. This finding was present also after allowing for the potential confounding effect of age. The multivariate OR of diabetes for users of hormonal replacement therapy was 0.58 (95% CI, 0.46-0.73). CONCLUSIONS: This large cross-sectional study suggests that postmenopausal women are at higher risk of type 2 diabetes after allowance for the effect of age. Other main determinants of risk of type 2 diabetes in women around menopause were low socioeconomic status and being overweight. Diabetes was found less frequently in those taking hormone replacement therapy.
Age Distribution↗
[Premature ovarian failure in patients affected by oncohematological disease].
AIM: Premature ovarian failure (POF) can be considered a consequence of chemotherapy performed in patients affected by oncohematological disease. The aim of this study was to evaluate the administration of GnRh analogs (aGnRh) to prevent gonadal toxicity associated with cancer treatment. METHODS: From April 1996 to May 2002 a total of 49 fertile women affected by oncohematological diseases (Hodgkin's lymphoma, non-Hodgkin's lymphoma, acute leukemia) and treated with chemotherapy were evaluated. Ovarian function was studied through a 40.7 month observation period, after chemotherapy, in 3 different groups: women treated with aGnRh, oral contraceptives treatment and no preventive-treatment. The differences in these groups as to menstrual cycle, blood ovarian hormones, age at diagnosis, type and dosage of chemotherapy administered were evaluated. Statistical analysis was performed by chi2 test with Yates correction and Fisher test. RESULTS: All patients treated with aGnRh and chemotherapy achieved a good ovarian function. A normal ovarian function was also obtained in 75% of patients treated with oral contraceptives and only in 59.3% of women with no preventive treatment. Significant difference was found comparing aGnRh group with no preventive-treatment group (P<0.05). No significant differences were found between other groups. CONCLUSIONS: Use of GnRh analogs administered before beginning chemotherapy prevents from gonadal damage in all cases observed. Higher chemotherapy toxicity and older age at diagnosis time decrease ovarian function.
Adolescent↗
[Screening for pre-eclampsia in a low-risk population at 24 weeks: uterine artery Doppler flow velocimetry and genetic variants of factor V, prothrombin and methylenetetrahydrofolate reductase].
AIM: Pre-eclampsia is one of the major causes of maternal and fetal morbidity and mortality. The aim of this study was to evaluate the clinical usefulness of screening of genetic thrombophilic mutations and uterine artery Doppler flow velocimetry at 24 weeks of gestation in the prediction of pre-eclampsia in low risk pregnant women. METHODS: We performed the genetic analysis for Leiden mutation of factor V gene (FV), G20210A mutation of the prothrombin gene (PT) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene in 103 women that had already attended routine ultrasonography scanner at 24 weeks at our Department. RESULTS: The frequency of heterozygous carriers of the Leiden FV was 17.4% in women with pre-eclampsia and abnormal artery Doppler flow velocimetry compared with 3.12% in patients with normal pregnancies. This difference was statistically significant (P<0.05). The frequency of mutation G20210A of PT gene was 1.5% vs 4.3% between women with normal pregnancies and with pre-eclampsia. This difference is not statistically significant. The frequency of homozygous patients for the C677T mutation of MTHFR gene among patients with pre-eclampsia was 21.7% and in the control group was 10.3%, but this difference is not statistically significant. No thrombophilic genes variants were found in women with pre-eclampsia and normal uterine artery Doppler flow velocimetry. CONCLUSION: We demonstrated the important association between FV Leiden mutation, abnormal uterine artery Doppler flow velocimetry at 24 weeks and pre-eclampsia in our low-risk population.
Adult↗
Menopause rather than estrogen modifies plasma homocysteine levels.
OBJECTIVES: To investigate the effects of transdermal estrogen replacement therapy (ERT) on plasma homocysteine levels in postmenopausal women who underwent total hysterectomy with bilateral oophorectomy. METHODS: In two-phase open longitudinal prospective study we compared 28 premenopausal women and 35 healthy postmenopausal patients to evaluate the effect of transdermal estrogen treatment (TTS 50 twice-weekly) on plasma homocysteine levels after 6 and 12 months of therapy. RESULTS: The study showed statistically relevant differences (P<0.05) in baseline plasma homocysteine concentration between the patients in premenopausal and in postmenopausal status. No difference in the plasma homocysteine levels was observed after 6 and 12 months of ERT on postmenopausal patients. CONCLUSIONS: Surgically postmenopausal women have higher plasma homocysteine concentrations than premenopausal women, but transdermal estrogen treatment for 12 months in postmenopausal women does not modify homocysteine levels.
Administration, Cutaneous↗
Dinucleotide polymorphisms present in the 5'-flanking region of the human H2 relaxin gene, but not in the corresponding region of the H1 gene.
Relaxin is a peptide hormone that, in humans, is encoded by two genes referred to as H1 and H2, both located into chromosome 9p24.1. We have searched for polymorphisms in the 5'-flanking sequence of these genes. Both genes possess a CT repeat followed by a GT repeat. CT and GT repeats of the H2 gene are longer than those of the H1 gene. Moreover, CT and GT repeats of the H2 gene, but not those of the H1 gene, show length polymorphism. Protein-DNA interaction experiments suggest that difference between the H1 and H2 GT repeats may have arisen because the requirements of the transcriptional regulation of the two genes are different.
5' Flanking Region↗
[Induction of fetal lung maturation in the prevention of hyaline membrane disease: the connection with neonatal sepsis].
BACKGROUND: The aim of this study was to evaluate the effect of antenatal maternal corticosteroid treatment on the frequency of neonatal outcomes and perinatal infectious morbidity among singleton pregnancies complicated by preterm delivery. METHODS: A nonrandomized analysis was performed on 189 neonates of 24-34 weeks' gestation who were born at the Department of Obstetrics and Gynecology, University of Udine, between January 2000 to December 2001. The neonates were subdivided into 3 groups: 1) 143 neonates received 2 doses of corticosteroids in a 24-hour interval and repeated after 10 days; 2) 26 neonates received 2 doses; 3) 20 neonates did not receive any treatment. Data were analysed with the Fisher exact test. p<0.05 was considered significant. RESULTS: The incidence of respiratory distress syndrome (RDS), neonatal mortality and intraventricular hemorrhage was respectively 43.4%, 3.2 % and 6.3 %. The rate of early-onset neonatal sepsis was 4.9% in the 1st group, 3.9% in the 2nd group and 5% in the 3rd group. There were no significant differences in the early-onset neonatal sepsis and the antenatal corticosteroids treatment. CONCLUSIONS: The single or the multiple courses of antenatal steroids did not apparently increase neonatal sepsis in patients with preterm delivery.
Adult↗
[Pathological monolateral Doppler velocimetry of the uterine artery and materno-fetal outcome].
BACKGROUND: The purpose of this study was to assess pathologic monolateral Doppler velocimetry of the uterine arteries as a screening test for preeclampsia and retarded intrauterine growth. METHODS: In this prospective longitudinal study carried out at the Obstetrics and Gynaecological Clinic of the University of Udine from January 200 to January 2001, 1008 utero-placental velocimetries at the 20th week of gestation were carried out by two operators; at the 24th, 111 velocimetric examinations were confirmed abnormal owing to the presence of a monolateral notch or of an increased resistance index in one of the two uterine arteries. The control group consisted of 729 patients with regular velocimetry comparable for age, race, BMI and parity. The materno-fetal outcomes were therefore assessed in both study groups. RESULTS: The incidence of preeclampsia and of retarded intrauterine growth retardation (IUGR) was respectively 3.6% and 7.2% in patients with monolateral abnormal Doppler velocimetry. The positive predictive value (PPV) of the screening test for preeclampsia was 3% and the negative value (NPV) 99%. CONCLUSIONS: The use of Doppler velocimetry of the uterine arteries with mono lateral alteration cannot be employed alone as a screening test for preeclampsia or retarded intrauterine growth in all pregnancies.
Adult↗
Endometrial histologic changes in post-menopausal breast cancer patients using tamoxifen.
OBJECTIVE: The aim of this study was to evaluate the effect of tamoxifen on the endometrium of post-menopausal women with breast cancer and to examine the relationship between ultrasonography, hysteroscopy and histopathologic changes. METHOD: Included in this longitudinal study were 303 post-menopausal women taking 20 mg daily of tamoxifen. Hysteroscopy was performed in 83 patients with an endometrial thickness of only >or=5 mm and 34 with vaginal bleeding also. Forty-five asymptomatic patients (control group) underwent hysteroscopies. RESULT: The most frequent outcome in patients with endometrial thickness of only >or=5 mm was an atrophic endometrium in an empty cavity (79.5%) whereas simple hyperplasia (35.3%) was found in women with vaginal bleeding. Carcinoma was diagnosed in seven cases (5.9%). In the control group, no endometrial cancer was found. CONCLUSION: This study suggests that patients with a thickness >5 mm should be offered a whole hysteroscopic evaluation, whenever bleeding is reported.
Aged↗
Umbilical artery pulsatility index in pregnancies complicated by insulin-dependent diabetes mellitus without hypertension.
OBJECTIVE: In a group of diabetic pregnant women, the umbilical artery pulsatility index (PI) was compared with both pregnancy complications and perinatal outcomes. METHOD: We evaluated 67 women with pregnancies complicated by insulin-dependent diabetes mellitus (IDDM), without hypertension. For the study we took the last umbilical PI value before delivery into consideration. Doppler results were not used for patient management. Umbilical artery PI was correlated with the route of delivery and the following perinatal complications: intrauterine growth retardation; cesarean sections for acute fetal distress; respiratory distress syndrome (RDS); neonatal hyperbilirubinemia; hypocalcemia; hypoglycemia; macrosomia, and neonatal intensive care unit (NICU). RESULTS: Among the 67 diabetic patients enrolled in this study, 44 (66%) had umbilical PIs ranging from the 5th to the 95th percentile (PI mean +/- SD = 1.2 +/- 0.3), while 23 (34%) had PIs above the 95th percentile (PI mean +/- SD = 1.6 +/- 0.3). Among the group with pathologic umbilical PIs, analysis of the data revealed a significantly higher incidence of both cesarean sections for acute fetal distress and perinatal complications: RDS; hyperbilirubinemia; hypoglycemia, and the need for NICU, respectively. CONCLUSION: In 34% of the diabetic pregnant women without hypertension, we found increased vascular resistances. Among these patients the incidence of perinatal complications was higher, and both closer maternal metabolic control and stricter care of fetal conditions are needed.
Cesarean Section↗