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

Abstract 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 13 th weeks of gestation after 1 st 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 17 th 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)

Myxoid Leiomyosarcoma

A 37 year old woman (para 1 spontaneous delivery) was admitted to our university hospital for menometrorrhagia. The case history showed that the patient had menometrorrhagia for six months; moreover, during the abdominal examination we found a mass (fig.1) occupying the hipogastric and mesogastric area. The tumefaction was hard and it reached the level of the umbilicus. On combined vaginal-abdominal examination a mass on the anterior wall and multiple myomata were felt; the uterus was found to have been enlarged to the size equivalent to 18 weeks pregnancy; adnexa regular were felt. During the surgery multiple myomas were found.The largest,10 cm diameter, was soft in consistence with a gelatinous structure. Total abdominal hysterectomy with preservation of adnexa was performed. Histopathological result gave evidence of myxoidleiomyosarcoma in the largest myoma, whereas the others fibroid nodes were without atypia [Cukurova Med J 2013; 38(1.000): 146-150

Uterine Myxoid Leiomyosarcoma

Abstract A 37 year old woman (para 1 spontaneous delivery) was admitted to our university hospital for menometrorrhagia. The case history showed that the patient had menometrorrhagia for six months; moreover, during the abdominal examination we found a mass

Foetal stem cells of Umbilical Cord Blood

Abstract After cord blood collection by an obstetrician, stem cell purification has been performed either with a combination o f monoclonal antibodies, using the negative selection Stem Sep method, or with a positive cell selection based on their surface CD34 antigens, using the Mini Macs system. An excellent recovery of hematopoietic progenitors: Burst Forming Unit Erythroid; Colony Forming Unit Granulocyte and Macrophage; and Colony Forming Un it Granulocyte, inversely related to the rising of clamping t ime, have been achieved with the Min i Macs system (54% of colonies, with 90%purity). With the Stem Sep method, recovery of hematopoietic progenitors was 35% (with 80% purity). By early clamping of u mbilical cord blood, we obtained a greater number of CD34+ cells whose clonogenic activity increased with enrich ment. Th is is particu larly useful considering that the nu mber o f CD34+ stem cells contained in a unit of placental blood is enough for transplantation to a child, but not for an adult engraft ment. Thus, using these methods, we can obtain a larger nu mber of CD34+ stem cells which increases the possibility of reducing graft-versus-host disease in adult patients, producing survival rates similar to those with transplantation of bone marro w

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 mg 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