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)

The reproduction in women affected by cooley disease

The health background management and outcomes of 5 pregnancies in 4 women affected by Cooley Disease, from Paediatric Institute of Catania University, are described, considering the preconceptual guidances and cares for such patients. These patients were selected among a group of 100 thalassemic women divided into three subgroups, according to their first and successive menstruation characteristics: i) patients with primitive amenorrhoea, ii) patients with secondary amenorrhoea and iii) patients with normal menstruation. Only one woman, affected by primitive amenorrhoea, needed the induction of ovulation. A precise and detailed pre-pregnancy assessment was effected before each conception. This was constituted by a series of essays, including checks for diabetes and hypothyroidism, for B and C hepatitis and for blood group antibodies. Moreover were evaluated: cardiac function, rubella immunity and transaminases. Other pregnancy monitoring, and cares during labour and delivery were effected according to usual obstetrics practice

Surgical treatment of high stage endometrial cancer: current perspectives

Endometrial cancer is now the most common gynecologic malignancy. We investigate on new scientific evidences in endometrial cancer, particularly underlined updates in advanced endometrial cancer. Early stage endometrial cancer is the most frequent presentation; however, advanced endometrial cancer that occurs in 3–13 % of cases has bad prognosis. There are two types of endometrial cancer different in molecular pattern, therapeutic strategy and prognosis. Type I endometrial cancers develop in an environment of unopposed estrogen and often arise out of endometrial hyperplasia, characterized by mutations in the PTEN gene, K-ras, and microsatellite instability inception. Type II cancer is not an estrogen-related cancer, occurs predominantly in postmenopausal women, shows typical mutations in p53 and HER2/neu and has a poor prognosis. Preoperative characterization of the type’s disease is an essential step for a right diagnosis and treatment. All patients should undergo to surgical staging, except those who are inoperable, according to FIGO recommendation. Surgical debulking, neoadjuvant chemotherapy and interval debulking can be strategy options

Prosthetic surgery versus native tissue repair of cystocele: literature review

Cystocele is the most common pelvic organ prolapse. It is defined as the descent of the bladder into the anterior vaginal wall. Aging is significantly associated with the prevalence and severity of pelvic organ prolapse. Treatment may be conservative or surgical according to symptoms, prolapse degree and not forgetting both patient and doctor preferences. Identify the most efficient surgical treatment to treat cystocele and its recurrences. Scientific literature was reviewed searching PubMed/MEDLINE database for articles published between 1996 and 2015 and using the terms pelvic organ prolapse, cystocele, mesh surgery, traditional repair, pelvic organ prolapse recurrence, complications, sexual function. There are two different surgical approaches for the treatment of cystocele: traditional repair and mesh repair. Prosthetic treatment gives higher anatomical success rate and fewer recurrence while traditional anterior repair has less complications. Surgical treatment in general improves both the anatomical success rate and the quality of life. The choice of surgery, between traditional and mesh repair, has to be personalized related to the prolapse grade and women tissues

Is It Possible to Diagnose Preoperatively a Tubal Ectopic Hydatidiform Molar Pregnancy? Description of a Case Report and Review of the Literature of the Last Ten Years

Synopsis: Nowadays there are no clinical, laboratory, or ultrasound criteria to differentiate ectopic tubal pregnancy from tubal molar pregnancy, so a preoperative diagnosis is not possible. Objective: Tubal ectopic hydatidiform moles are a rare type of gestational trophoblastic disease. The aim of our work is to understand if it is possible to diagnose, preoperatively, a tubal ectopic molar pregnancy, starting from the evaluation of a complicated case report up to performing a review of the literature. Materials and Methods: A 27-year-old woman was referred to our department for right pelvic pain, vaginal bleeding, and positive beta-hCG (590 mUI/mL). At the ultrasound, the uterine cavity was empty and a unilocular cyst of 15 mm below the right ovary, suspicious of ectopic pregnancy, was described. Serial measurements of daily beta-hCG (2031 → 2573 → 3480 mUI/mL) and, after five days, a laparoscopic salpingectomy, were performed. The pathologist confirmed a diagnosis of “incomplete invasive vesicular mole with extrauterine implant”. A review of the literature was performed, following the PRISMA statement, and searching all the articles related to this topic in the last ten years from PUBMED. We obtained data from thirteen studies, describing fourteen cases. Discussion: Considering the data from the literature, the main clinical symptoms were pelvic pain (100%), vaginal bleeding (64%), vomiting (7%), and fever (7%). By ultrasound examination, left adnexal mass on ten women (72%), and right adnexal mass on four (28%), were described. An assessment of ectopic pregnancy was made in all cases, but no preoperative diagnosis of tubal molar pregnancy was made. Beta-hCG levels were the same as patients with ectopic tubal pregnancy. Conclusion: Nowadays there are no clinical, laboratory, or ultrasound criteria to differentiate ectopic tubal pregnancy from tubal molar pregnancy

Early Cervical Cancer and Recurrence after Minimally Invasive Surgery without Uterine Manipulator

Objective: Worldwide cervical cancer is the fourth most common cancer and is also the fourth leading cause of death among women, after breast cancer, colorectal cancer, and lung cancer. The aim of this study is to investigate the long-term oncological safety of laparoscopic treatment without the use of a uterine manipulator for patients with early stage cervical cancer. Materials and methods: A single-center retrospective study was conducted at the Department of Obstetrics and Gynecology of ARNAS Garibaldi Nesima on patients surgically treated for early cervical cancer from 2014 to 2017. Inclusion criteria included squamous or adenosquamous histotype, FIGO stage from Ia1 to Ib2, cancer size < 4 cm, ECOG status 0–1, and negative serum beta-HCG. The patients were divided into two groups: treatment with and without an intra-uterine manipulator. Results: Seventy patients were identified, but only thirty-one met the inclusion criteria and were enrolled. All patients underwent surgery: three patients with the uterine manipulator, twenty-eight without. Among the thirty-one patients enrolled, twelve women had cancer in situ (IA1), nineteen had an early stage cervical cancer, in particular two cases of cervical cancer stage IA2, ten cases of cervical cancer stage IB1, and seven cases of cervical cancer stage IB2, according to the FIGO classification. At follow-up, three cases of recurrence occurred, but the uterine manipulator was not used. Conclusion: After five years of follow-up, recurrence rates in patients treated with minimally invasive surgery are about 10%, but the use of a uterine manipulator is not related to a higher level of recurrence rates

Early Cervical Cancer and Recurrence after Minimally Invasive Surgery without Uterine Manipulator

Objective: Worldwide cervical cancer is the fourth most common cancer and is also the fourth leading cause of death among women, after breast cancer, colorectal cancer, and lung cancer. The aim of this study is to investigate the long-term oncological safety of laparoscopic treatment without the use of a uterine manipulator for patients with early stage cervical cancer. Materials and methods: A single-center retrospective study was conducted at the Department of Obstetrics and Gynecology of ARNAS Garibaldi Nesima on patients surgically treated for early cervical cancer from 2014 to 2017. Inclusion criteria included squamous or adenosquamous histotype, FIGO stage from Ia1 to Ib2, cancer size Results: Seventy patients were identified, but only thirty-one met the inclusion criteria and were enrolled. All patients underwent surgery: three patients with the uterine manipulator, twenty-eight without. Among the thirty-one patients enrolled, twelve women had cancer in situ (IA1), nineteen had an early stage cervical cancer, in particular two cases of cervical cancer stage IA2, ten cases of cervical cancer stage IB1, and seven cases of cervical cancer stage IB2, according to the FIGO classification. At follow-up, three cases of recurrence occurred, but the uterine manipulator was not used. Conclusion: After five years of follow-up, recurrence rates in patients treated with minimally invasive surgery are about 10%, but the use of a uterine manipulator is not related to a higher level of recurrence rates