Pallister-Killian syndrome presenting through nuchal oedema: cytogenetic investigation and parental origin by molecular analysis in a new case.
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Abnormalities, Multiple↗
Biomedical subjects
Luigi Selvaggi
Publications and source records attributed to Luigi Selvaggi.
Effect of gonadotropin-releasing hormone agonist treatment on growth hormone responses in women with polycystic ovary syndrome.
This study supports the importance of regulatory role of the E(2) in growth hormone secretion in women with polycystic ovary syndrome, showing for the first time a different weight-related sensitivity of the growth-hormone axis to hypoestrogenism induced by gonadotropin-releasing hormone agonist.
Adult↗
Office hysteroscopy.
The indications for hysteroscopic procedures in gynecologic practice are ample and clearly charted: hysteroscopy is considered the gold standard not only for visualizing the cervical canal and the uterine cavity, but also for treating many different kinds of benign pathologies localized to that region. This article summarizes the authors' experience with this technique during the last 14 years, which have been devoted to improving the procedure by creating new instruments and modifying the technique.
Ambulatory Care↗
Simultaneous bilateral tubal pregnancies and intrauterine pregnancy with five fetuses.
A 28-year-old woman with severe right lower abdominal pain and vaginal bleeding at 7 weeks' (+/- 2 days') gestation was seen in the emergency room of our institution. The pregnancy was the result of natural conception after ovarian stimulation with gonadotropins. Transvaginal sonography revealed five intrauterine gestational sacs containing five live embryos. A positive fetal heartbeat was detected in the fallopian tube on the right. Laparoscopic findings disclosed the enlarged uterus with the unruptured right ectopic pregnancy in the ampullary region and an extrauterine pregnancy in the left tube as well. A linear salpingotomy was performed on the right tubal pregnancy. We decided to perform salpingectomy on the left tube because it was impossible to preserve the tube, and exploration of it showed the existence of another gestational sac. It is necessary to decry inappropriate and injudicious use of assisted reproductive technologies, especially by individuals with little or no training in monitoring the agents and treatments prescribed. In 2003, still waiting for official legislation from the Italian Parliament on assisted reproductive technology, we have to face dramatic situations, such as this very unique case of heterotopic pregnancy.
Adult↗
Preoperative double-contrast barium enema in patients with suspected intestinal endometriosis.
STUDY OBJECTIVES: To assess the usefulness of double-contrast barium enema (DCBE) in the diagnosis of endometriotic lesions of the bowel and to define its potential value in preoperative decision making for intestinal surgery. DESIGN: Retrospective study (Canadian Task Force classification II-2). SETTING: General hospital with a specialized endometriosis unit. PATIENTS: One hundred and eight women with symptoms suggestive of intestinal endometriosis who underwent DCBE before laparoscopic surgery. INTERVENTION: Laparoscopic complete excision of endometriosis. MEASUREMENTS AND MAIN RESULTS: Fifty-five patients were found to have an entirely normal colon on DCBE studies. Twenty-eight of these were found to have adhesions of the bowel at laparoscopy. Radiographic abnormalities suggestive of endometriosis were detected in 53 patients; 20 of these underwent laparoscopic bowel segmental resection, 10 laparoscopic full-thickness disc excision, 4 laparoscopic mucosal skinning, and 4 total laparoscopic hysterectomy with bilateral salpingo-oophorectomies. Fourteen patients refused intestinal surgery. One patient had no endometriosis but severe adhesions. In all cases but one, the radiographic findings on DCBE were confirmed by surgery and with histopathologic examination of the resected specimens (accuracy 99%). In these same cases, the preoperative choice of intestinal surgery remained unchanged during the procedure. CONCLUSION: Our data show that, in expert hands, DCBE correlated with a patient's clinical history and clinical findings is capable of diagnosing bowel wall involvement due to endometriosis, which could require intestinal surgery. This allows for proper preoperative planning of surgical procedures and a thorough informed consent.
Adult↗
Validation of an Italian version of the prolapse quality of life questionnaire.
OBJECTIVE: To validate the italian translated version of the prolapse quality of life questionnaire (P-QOL). STUDY DESIGN: The P-QOL questionnaire was translated into Italian and administered to women recruited from a gynaecology outpatient clinic. All women completed a P-QOL questionnaire at the time of the visit, and were examined in left lateral position using the ICS prolapse score. A second P-QOL questionnaire was posted and completed by women 1 week later. The validity was assessed by measuring levels of missing data, comparing symptom scores with objective prolapse stages and between affected and asymptomatic women. The reliability was assessed by testing internal consistency and stability using 1-week test retest analysis. RESULTS: 132 symptomatic and 61 asymptomatic women were studied. The number of missing items was 2%. P-QOL domain scores were significantly different between symptomatic and asymptomatic women (P<0.001). Severity according to P-QOL strongly correlated with the prolapse size (P<0.01, rho>0.5). All items achieved a Cronbach alpha greater than 0.8. The test retest reliability confirmed a highly significant correlation between the total scores for each domain. CONCLUSION: The Italian version of the P-QOL questionnaire has been validated, providing a reliable, easily comprehensible and valid instrument for the symptomatic assessment of Italian-speaking women with uterovaginal prolapse.
Adult↗
Fetal liver hyperechogenicity on sonography may be a serendipitous sign of a transient myeloproliferating disorder.
OBJECTIVE: To demonstrate that thorough antenatal and postnatal investigations are helpful in any genetic syndrome. CASE REPORT: A woman without a specific risk had a finding of hyperechogenic foci at ultrasound. Karyotype on fetal blood was 47, XY+21 and extensive biochemical investigation revealed abnormal liver function. Given the suspicion of a coincidental hepatic compromise, targeted postmortem examination was performed, which showed hepatic fibrosis, megakaryocytes proliferation and invasion of sinusoid capillaries, all suggestive of a transient myeloproliferative disorder. CONCLUSION: When compared with chorionic villous and amniotic fluid sampling, fetal blood allows the collection of additional data, which may help in understanding the pathological process behind an apparently serendipitous association.
Abortion, Eugenic↗
beta 1C Integrin expression in human endometrial proliferative diseases.
Integrins are ubiquitous cell adhesion molecules that are involved in maintaining normal tissue morphology and have been implicated in the aggressive behavior of several malignancies. beta 1C integrin is an alternatively spliced variant of the beta 1A integrin subunit that, at variance with beta 1A, inhibits epithelial cell proliferation. beta 1C integrin is expressed in non-proliferative, benign prostatic epithelium and is down-regulated in prostatic adenocarcinoma. In the current study, we examined beta 1C expression at mRNA and protein levels in 18 endometrial adenocarcinoma and in 20 endometrial hyperplastic tissues, using Northern and Western blotting analysis and immunohistochemistry. The pattern of integrin expression was compared to that of the endometrium of 14 normal cycling women. The results of this study document inhibited beta 1C integrin expression in endometrial adenocarcinoma, both at the mRNA and protein levels, at variance with significantly up-regulated beta 1C mRNA expression in endometrial hyperplasia, in comparison with normal proliferative endometria. Our data suggest a key role of the regulation of beta 1C integrin expression in the pathogenesis of endometrial proliferative diseases: beta 1C integrin may act as growth modulator in cancer cells, playing a role in downstream intracellular signaling.
Adenocarcinoma↗
Surgical resection of solitary brain metastasis from ovarian carcinoma: an analysis of 22 cases.
OBJECTIVE: Central nervous system (CNS) involvement is considered an uncommon complication in patients with ovarian carcinoma. The aim of this study was to evaluate prognostic factors for survival following surgical resection of brain metastases in patients with ovarian carcinoma. METHODS: A retrospective chart review was conducted on 22 patients who had been submitted to neurosurgical resection of a solitary brain metastasis from ovarian carcinoma. RESULTS: Eighteen lesions were cerebral, 4 were cerebellar. CNS was the only site of disease in 9 patients, 9 patients had CNS and abdominopelvic disease, and 4 also had concomitant extraperitoneal dissemination. Following surgery, 17 received whole-brain radiotherapy and 5 received systemic chemotherapy. Median survival from diagnosis of cerebral metastasis for the entire series was 16 months (range, 4-41 months). Extracranial disease at the time of CNS metastasis and time interval between diagnosis of ovarian cancer and CNS involvement manifestation were the only factors significantly affecting survival. CONCLUSIONS: Neurosurgical resection of brain metastasis from ovarian carcinoma is indicated in solitary lesions in the absence of systemic disease. The role of chemotherapy and stereotactic radiosurgery should be investigated.
Brain Neoplasms↗
Skin metastases in ovarian carcinoma: a report of nine cases and a review of the literature.
OBJECTIVE: Cutaneous involvement is unusual at presentation and during the course of ovarian carcinoma. The aim of the present study was to determine the incidence, clinicopathologic characteristics and prognostic factors of skin metastases in ovarian cancer patients. METHODS: A retrospective chart review was conducted on 220 patients with epithelial ovarian carcinoma treated at our unit between 1991 and 2001. Pertinent clinical information, pathologic data, treatment, and prognostic factors for survival following documentation of skin metastases were collected. Survival time was calculated from the time of diagnosis of ovarian cancer and from the time of diagnosis of the cutaneous metastasis. RESULTS: FIGO stage at the time of ovarian cancer diagnosis was stage III = five patients (56%), and stage I and stage IV = two patients each (22%). Most patients had serous papillary cystoadenocarcinoma of the ovary (78%), and one each had endometrioid and mucinous carcinomas (12%). Seven patients (78%) had poorly differentiated tumors. Only one patient had a skin metastasis at the time of ovarian cancer diagnosis; in the remaining patients the average time of appearance of skin metastases after the diagnosis of ovarian cancer was 23.4 +/- 12 months (range 4 to 37). The diameter of the skin lesions ranged between 0.5 and 3 cm. Three patients had a single skin nodule, while six had multiple skin lesions. Eight patients (89%) have died of disease and median survival after diagnosis of the skin metastases was 4 months (range 2 to 65). One patient (Cases 1) is alive without tumor 4 months after diagnosis of the skin metastases. Overall survival after diagnosis of skin metastasis from ovarian cancer was 4 months (range 2 to 65). CONCLUSION: Skin involvement is a late complication that occurs rarely in ovarian cancer patients. Prognosis after skin metastases is poor and the most important prognostic factor associated with survival is the interval time between diagnosis of ovarian cancer and documentation of cutaneous involvement.
Adenocarcinoma, Mucinous↗
Prospective randomized study comparing amoxicillin-clavulanic acid with cefazolin as antimicrobial prophylaxis in laparotomic gynecologic surgery.
BACKGROUND: To compare amoxicillin-clavulanic acid with cefazolin as ultra-short-term prophylaxis in laparotomic gynecologic surgery. MATERIALS AND METHODS: A prospective randomized study was conducted to compare two antimicrobial regimens in surgical prophylaxis of laparotomic surgery. Patients were randomly allocated to receive amoxicillin-clavulanic acid (2.2 g) [Group A] or cefazolin (2 g) [Group B] as a single dose 30 min before surgery. Each patient was assessed daily until discharge to evidence febrile status and the presence of infections at the operative site, urinary tract, and respiratory tract. RESULTS: In the amoxicillin-clavulanic acid (Group A) and cefazolin (Group B) groups, overall 346 and 352 patients, respectively, were evaluable for prophylactic efficacy at hospital discharge. Infectious complications were infrequent in both arms. Febrile morbidity occurred in 21 (6.1%) and 26 (7.4%) patients, respectively, in the amoxicillin-clavulanic acid and cefazolin groups. Wound infection and urinary tract infection were also higher, but not significantly in the cefazolin group (0.5% vs. 1.1% and 2.0% vs. 2.5%, respectively). There was one respiratory tract infection (0.2%) in Group B, and no septic death in either groups. CONCLUSION: Ultra-short-term prophylaxis with both amoxicillin-clavulanic acid and cefazolin is safe in elective laparotomic gynecologic surgery.
Adult↗
Evidence of apoptosis in human primordial and primary follicles.
BACKGROUND: Apoptosis may operate the 'selection' between follicles destined for atresia and follicles that will remain available for ovulation. The aim of this study is to assess the expression of apoptosis in quiescent follicles. METHODS: Ovarian cortex samples from women of reproductive age, fixed in formalin, were used for immunohistochemical and terminal deoxynucleotidyl transferase-mediated deoxy-UTP nick end labelling (TUNEL) methods. In histological sections the follicles were classified as primordial, primary, secondary and antral. Follicle density was defined as the total number of follicles/0.5 cm(2) of ovarian cortical tissue. Mab DO-7 (anti-p53) and Mab 124 (anti-bcl-2) were used in the immunohistochemical study. RESULTS: TUNEL was positive in 23.4% of the primordial follicles, and in 23.2% of the primary follicles, both in oocytes and granulosa cells, whereas all secondary follicles were negative. Bcl-2 activity was expressed in 75% of secondary follicles. p53 was negative in all samples. CONCLUSIONS: Apoptosis could be the process responsible for atresia of quiescent follicles and hence depletion of the ovarian germ stockpile. Follicular cells expressing Bcl-2 may therefore be the viable cells that escape the apoptotic process. Negative p53 patterns may be a favourable prognostic finding showing genome integrity in the replicating follicular cells of women of reproductive age.
Adult↗
What does 'diagnostic hysteroscopy' mean today? The role of the new techniques.
PURPOSE OF REVIEW: Visual examination of the uterine cavity and contextual operative facilities have provided the gynecologist with the perfect 'diagnostic' tool, making it possible to examine the cavity and biopsy suspected areas under direct visualization. RECENT FINDINGS: The approach used to insert the scope, together with the diameter of the hysteroscope and the distention of the uterine cavity, are of extreme importance in reducing patient discomfort to a minimum during an outpatient examination. The vaginoscopic approach (without speculum or tenaculum) has definitively eliminated patient discomfort related to the traditional approach to the uterus. One of the major problems for endoscopists is passing through the internal cervical os; the new generation of hysteroscopes, with an oval profile and a total diameter between 4 and 5 mm, are strictly correlated to the anatomy of the cervical canal. Miniaturized instruments have enabled the physician not only to perform targeted hysteroscopic biopsies, but also to treat benign intrauterine pathologies, such as polyps and sinechiae, without any premedication or anesthesia. This has been defined as a 'see & treat' procedure: there is no longer a distinction between the diagnostic and operative procedures, but a single procedure in which the operative part is perfectly integrated in the diagnostic work-up. SUMMARY: Diagnostic hysteroscopy has long paid the price of being a purely visual method of investigation. Today, thanks to recent advances in instrumentation and to modified techniques related to the simultaneous use of the scope and of instruments, hysteroscopy is finally achieving the full accuracy that has been awaited for the last 20 years.
Female↗
Differential expression of beta 1c integrin messenger ribonucleic acid and protein levels in human endometrium and decidua during the menstrual cycle and pregnancy.
beta(1C) and beta(1A) integrins are alternatively spliced variants of the human beta(1)-subunit; the former has been shown to inhibit cell proliferation, and the latter to promote it. Although some components of the beta(1) integrin subfamily are expressed in human endometrial and decidual cells during the menstrual cycle and early pregnancy, to date no information is available about the expression of beta(1C) integrin in endometrial and decidual tissues and its possible roles during implantation and pregnancy. To gain further insight on this subject, we have explored beta(1C) integrin expression in endometrial (proliferative, secretory, and atrophic) and decidual (from the first and third trimesters of pregnancy) tissue samples at both gene and protein levels by Northern and Western blotting analyses and by immunohistochemistry. beta(1A) protein levels were also measured in the same tissues as a control. The results of this study demonstrate that both beta(1C)- and beta(1A)-subunits are expressed in the endometrium and decidua. In the former, maximal beta(1C) expression was detected in atrophic endometria, whereas beta(1A) expression levels were increased in secretive and decreased in atrophic endometrial tissues compared with proliferative endometria. In addition, whereas beta(1A) levels were significantly increased in decidual tissues, compared with proliferative endometria, beta(1C) expression was dramatically reduced in the same tissues, thus pointing to selective down-regulation of beta(1C) expression in the decidua. These data suggest that the expression of beta(1C) integrin, a very efficient inhibitor of cell proliferation, may be modulated by the maternal microenvironment and may play a fundamental role in mediating trophoblast outgrowth and migration during pregnancy.
Blotting, Northern↗
Toxoplasmosis in pregnancy is still an open subject.
OBJECTIVE: To assess the consequences of a systematic screening for toxoplasma infection in pregnant women in a potentially high risk population. METHODS: We have investigated all consecutive women with likely toxoplasma seroconversion in a referral center setting. Data were obtained from 68 women for whom an acute infection during pregnancy was considered likely or definite. They were all treated with antibiotics in the first instance and offered, if in the first or second trimester, amniocentesis for detection of vertical transmission (PCR and IFAT). Third trimester seroconversions and positive cases after amniocentesis were offered more aggressive antibiotic treatment. RESULTS: Five fetuses/neonates (7%) were found to be infected. Four of them were diagnosed prenatally at amniocentesis, two women decided for termination of pregnancy, two were treated and gave birth to seronegative, normally developing children. One case was found postnatally, after a third trimester conversion; this developed into hydrocephalus with neurologic impairment. DISCUSSION: Prenatal screening and antibiotic treatment of mothers infected with toxoplasmosis showed good feasibility in our infection-susceptible population. However, there were some weak points; for example, the high number of invasive procedures and the questionable prevention of mother to child transmission in the second to third trimester.
Amniotic Fluid↗
Primary splenic pregnancy. A case report.
BACKGROUND: Ectopic pregnancy in the upper abdominal organs is very rare but has been known to occur in the liver, spleen and lesser sac. Primary splenic pregnancy is considered the rarest form of extrauterine pregnancy, with only few well-documented cases reported. CASE: Intraperitoneal bleeding and shock resulted from a primary splenic pregnancy in a 37-year-old woman. CONCLUSION: Primary splenic pregnancy usually presents with upper left abdominal pain and intraperitoneal bleeding. It requires an emergency splenectomy and should be considered in the differential diagnosis of acute abdomen in reproductive-age women.
Abdominal Pain↗
Reproducibility and reliability of pressure flow parameters in women.
OBJECTIVE: The aim of this study was to evaluate the intra- and inter-rater reliability of pressure flow parameters in women. DESIGN: A prospective study. SETTING: Tertiary referral unit in a London teaching hospital. POPULATION: Urodynamic traces of 621 women were studied to assess the reproducibility and reliability of pressure flow parameters. METHODS: Women with lower urinary tract symptoms were studied prospectively. Opening detrusor pressure (ODP), detrusor pressure at maximum flow rate P(detQ(max)), maximum flow rate (Q(max)) and closure detrusor pressure (CDP) were measured by the same observer twice, one week apart. Pressure flows were compared using different media for filling (saline and contrast). All parameters were also measured in nine women from multiple voids during ambulatory urodynamics to assess their reproducibility and finally were remeasured by a second observer. RESULTS: There was good intra-observer agreement for all pressure flow parameters except detrusor pressure at maximum flow rate and good inter-observer agreement for opening detrusor pressure, closure detrusor pressure and detrusor pressure at maximum flow rate. There was no significant difference between parameters using saline or contrast (P > 0.05, independent samples t test). CONCLUSION: Pressure flow parameters appear to be reproducible and consistent urodynamic measurements in women.
Adult↗
In vitro maturation of primordial follicles after cryopreservation of human ovarian tissue: problems remain.
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Cell Culture Techniques↗