Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach. In all these cases, a detailed genetic study is required. PKS is diagnosed by prenatal genetic analysis through chorionic villus sampling, genetic amniocentesis, and cordocentesis. CASE REPORT: We report two cases of PKS with prenatal diagnosis of isochromosome 12p made by cytogenetic studies. The first case is of a 36-year-old pregnant woman who underwent genetic chorionic villus sampling at 13th weeks of gestation after 1st trimester prenatal ultrasound revealed clinical features of PKS: flat nasal bridge and fetal hydrops. The second case is of a 32-year-old pregnant woman with genetic amniocentesis at 17th weeks of gestation that showed mos46,XX[21]/47,XX,+i(12p) associated to PKS. CONCLUSION: New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p).

Intrafollicular nerve growth factor concentration in patients with polycystic ovary syndrome: a case-control study.

BACKGROUND: To evaluate the concentration of nerve growth factor (NGF) in follicular fluid of women affected by polycystic ovary syndrome (PCOS) undergoing to In Vitro Fertilization cycle. METHODS: In the context of an in-vivo study, a sample of 52 women was considered: 20 were without pathology (male infertility - control group) and 32 were affected by PCOS. All patients received a long stimulation protocol and the oocytes obtained by pick-up were fertilized with standard procedures of intracytoplasmic sperm injection (ICSI). Samples of follicular fluid (FF) were collected at oocyte pick-up. After centrifugation at 560 × g for 3 min, follicular fluid samples were frozen at -80 °C. After thawing the values of NGF in FF were determined by enzyme immunoassay ELISA using commercially available NGF enzyme-linked immunosorbent assay kits. The results of study were analyzed statistically with Student's t-test. RESULTS: The content of NGF was higher in FF of PCOS patients (2023.30±587.09 pg/mL) in comparison with control group (1704.09±326.8 pg/mL; P<0.05). The levels of serum estrogen (E2) were higher in patients with PCOS (1724.24±635.79 pg/mL) than in control group (1305.3±298.12 pg/mL; P<0.05). The number of retrieved oocytes was more in PCOS patients (9.7±4.6) than in control group (8±4.4), but oocytes in metaphase II were similar in two groups (6.2±2.4 vs. 6.09±4). CONCLUSIONS: The present results show that ovaries of PCOS patients produce more NGF than non-PCOS patients; it confirms that an excess of ovarian NGF might be an abnormality contributing to polycistic ovary morphology and PCOS.

Effect of treatment with myo-inositol on semen parameters of patients undergoing an IVF cycle: in vivo study.

INTRODUCTION: Myo-inositol (MI) is a precursor for the synthesis of phosphatidylinositol polyphosphates (PIPs). The aim of the study is to evaluate the effect of its administration on semen parameters of male patients undergoing an in vitro fertilization cycles. METHODS: In vivo study. Samples were semen of 62 patients divided into three different groups: healthy fertile patients (Group A); patients with oligoasthenospermia (OA) (Group B); control group (CTR). The collected samples were analyzed by optic microscopy in order to evaluate semen's volume, spermatozoa's number and motility before and after density-gradient separation method. These parameters were evaluated before and after administration of 4000 mg/die of MI and 400 µg of folic acid for 2 months. The results were analyzed statistically with Student's t-test. RESULTS: After treatment there was a significant increase of basal and after density-gradient separation method spermatozoa concentration in Group B, and a significant increase of spermatozoa count after density-gradient separation method in Group A. The motility values were higher in healthy men than patients with OA before treatment, but there was no improvement in both groups after treatment. CONCLUSIONS: Exogenous administration of MI significantly improves semen's parameters both in patients with OA and in normal fertile men.

Comparison between modified Misgav-Ladach and Pfannenstiel-Kerr techniques for Cesarean section: review of literature.

In the last decades cesarean section rates increased in many countries becoming the most performed intraperitoneal surgical procedure. Despite its worldwide spread, a general consensus on the most appropriate technique to use has not yet been reached. The operative technique performed is made chiefly on the basis of the individual experience and preference of operators, the characteristics of patients, timing and urgency of intervention. We compared the two most known and used techniques, modified Misgav-Ladach and traditional Pfannenstiel-Kerr, and analyzed their impact on primary, short- and long-term outcomes and outcome related to health service use.

Antenatal diagnosis of Seckel Syndrome: a rare case report.

INTRODUCTION: Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations. CASE REPORT: we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests. CONCLUSION: diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis.

The role of cytoreductive surgery in advanced-stage ovarian cancer: a systematic review.

It has already been proven that ovarian cancer is the sixth most common cancer among women, and it is considered the leading cause of death by gynecologic cancer in developed countries. This article is a literature review based on the use of cytoreductive surgery matched with adjuvant chemotherapy in advanced-stage ovarian cancer. According to the statistics, the difficulty of obtaining an early diagnosis results in a delay in the disease treatment and as a consequence, in many cases, ovarian cancer is still diagnosed in the advanced stage of the disease. Primary surgery is performed, in addition to diagnosis and staging, to achieve optimal cytoreduction. The purpose of this article is to review the different surgical approaches in the management of epithelial ovarian cancer, specifically the high-stage disease, with a special concentration on the most recent therapeutic additions to our current knowledge, such as hyperthermic intraperitoneal chemotherapy and new therapeutic drugs. Surgical treatment still plays a pivotal role in the management of advanced-stage ovarian cancer. Complete cytoreduction continues to be, when feasible, the objective to be attempted in the surgical treatment of advanced ovarian cancer. Obviously, the success of the operation depends on numerous factors, including patient selection, the locations of tumors, and surgeon expertise. To offer patients the best possible outcome with the least accompanying morbidity, strong consideration should be given to the referral of such patients to expert care centers for primary surgery, because it may be the best means currently available for improving overall survival.