Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2).

Case Presentation: In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH.

Long term efficacy and safety of rivaroxaban plus cilostazol in the treatment of critical ischemia of the lower limbs in a frail, elderly patient with non valvular atrial fibrillation.

Background: Many patients with critical lower limb ischemia are not eligible for revascularization procedures. Still, given the emerging role of both platelet and coagulation activation in the formation of arterial thrombi, they may benefit from the novel anticoagulant and antiplatelet drugs.

Case Presentation: We describe the case of a male with critical lower limb ischemia complicated by older age, frailty, polymorbidity and non valvular atrial fibrillation, who was deemed as non eligible for surgery.

Cardiofaciocutaneous syndrome with rare structural variant in gene associated with neurodevelopmental disorders.

We describe a girl with clinical signs of cardiofaciocutaneous syndrome who simultaneously presents a mutation in the BRAF gene and a 9p24.3 microduplication. This genetic condition has never been described in the literature and could explain the phenotypic variability observed in the girl.

Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and susceptibility to recurrent pregnancy loss.

Several studies have investigated the link between two different polymorphisms (C677T and A1298T) of the gene encoding methylenetetrahydrofolate reductase (MTHFR) and the risk of recurrent pregnancy loss (RPL); however, the results remain controversial. This study aimed to provide greater insight into this debated topic. In the current study, two groups of pregnant women (group A: RPL women; group B: non-RPL women), each of which were subdivided further into two subgroups based on their gestational age, were screened for C677T and A1298T variants of the MTHFR gene.

The influence of D--inositol and D--inositol in pregnant women with glucose intolerance.

The aim of the present study was to demonstrate that the use of inositol and folic acid from the first trimester of pregnancy, counteracts the onset of gestational diabetes mellitus (GDM) in women at risk, preserving the infants from macrosomia, hypoglycemia and preterm delivery. The authors collected data from the pregnant women at the laboratory (Unit of Cytogenic and Molecular Genetics), from January 2014 to April 2016, all with first trimester fasting plasma glucose (FPG) >92 mg/dl. A total of 40 women were treated with 250 mg/day D--inositol, 1.

Implementing PGD/PGD-A in IVF clinics: considerations for the best laboratory approach and management.

For an IVF clinic that wishes to implement preimplantation genetic diagnosis for monogenic diseases (PGD) and for aneuploidy testing (PGD-A), a global improvement is required through all the steps of an IVF treatment and patient care. At present, CCS (Comprehensive Chromosome Screening)-based trophectoderm (TE) biopsy has been demonstrated as a safe, accurate and reproducible approach to conduct PGD-A and possibly also PGD from the same biopsy. Key challenges in PGD/PGD-A implementation cover genetic and reproductive counselling, selection of the most efficient approach for blastocyst biopsy as well as of the best performing molecular technique to conduct CCS and monogenic disease analysis.

Yeast as a tool to select inhibitors of the cullin deneddylating enzyme Csn5.

The CSN complex plays a key role in various cellular pathways: through a metalloprotease activity of its Csn5 deneddylating enzyme, it regulates the activity of Cullin-RING ligases (CRLs). Indeed, Csn5 has been found amplified in many tumors, but, due to its pleiotropic effects, it is difficult to dissect its function and the involvement in cancer progression. Moreover, while growing evidences point to the neddylation function as a good target for drug development; specific inhibitors have not yet been developed for the CSN.

Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Introduction: Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing.

Methods: This study reports the results of a molecular screening of cystic fibrosis using DNA samples of patients enrolled from January 2009 to December 2013.

Effect of multivitamins on plasma homocysteine in patients with the 5,10 methylenetetrahydrofolate reductase C677T homozygous state.

The role of hyperhomocysteinemia (HHcy) as a cardiovascular risk factor remains a matter of debate, while it correlates with folates, it demonstrates inverse correlation with plasma homocysteine (Hcy) levels and vitamin B12 levels and reduces plasma Hcy levels following supplementation with multivitamins. The purpose of this study was to demonstrate that administering multivitamins at specific doses for 90 days restores normal plasma Hcy levels in women who are homozygous for the thermolabile variant of 5,10 methylenetetrahydrofolate reductase (MTHFR C677T). We enrolled 106 healthy females aged between 30 and 42 years, who were non-smokers, non-vegetarian, normotensive and who had no history of food abuse in the previous months.

Efficacy and safety of 0.5% levobupivacaine versus 0.5% bupivacaine for peribulbar anesthesia.

Background: This randomized double-blind study examined the use of a new anesthetic agent, levobupivacaine 0.5%, which is the S(-)-enantiomer of a racemic mixture of bupivacaine, for peribulbar anesthesia and compared it with racemic bupivacaine 0.5% alone or in combination with hyaluronidase 10 IU/mL.

Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report.

Introduction: Premature ovarian failure is defined as the cessation of ovarian activity before the age of 40 years. It is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (luteinizing hormone and follicle-stimulating hormone).

Case Presentation: Our patient, a 22-year-old Caucasian woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 18.

Incidence of β-thalassemia carrier on 1495 couples in preconceptional period.

Objective: This research, conducted on 1495 couples in preconceptional period, demonstrates how the study of globular resistance of erythrocytes (GRO) is not a first choice test and not useful as other more accurate tests to identify subjects with β-thalassemia trait. Instead, the complete blood count (CBC) and the evaluation of HbA, HbA2 and HbF by high pressure liquid chromatography (HPLC) are essential.

Methods: Each couple arrived in our laboratory to screen for β thalassemia.

The mRNA-HPV test utilization in the follow up of HPV related cervical lesions.

Unlabelled: The biomolecular follow up of Human Papilloma Virus (HPV) is widely investigated in patients treated for HPV related cervical lesions, since the HPV-mRNA test is more specific and have a higher positive predictive value for CIN2-3 in triage of high risk (HR) women and in follow-up of women treated for CIN2/3.

Material & Methods: We investigated, during a 5 years' study, a cohort of patients divided in: group 1, patients at high risk for HPV-infections, and group 2, women diagnosed for CIN2/3, Cervicocarcinoma in situ (CIS) and Adenocarcinoma in situ (AIS) and surgically treated. The overall scheduled follow up was repeated each 6 months by: Pap Test, HPV-DNA test, m-RNA-HPV test and, in case of CIN2/3, CIS and AIS, also by colposcopy and biopsy.

Surgical management of neurovascular bundle in uterine fibroid pseudocapsule.

The uterine fibroid pseudocapsule is a fibro-neurovascular structure surrounding a leiomyoma, separating it from normal peripheral myometrium. The fibroid pseudocapsule is composed of a neurovascular network rich in neurofibers similar to the neurovascular bundle surrounding a prostate. The nerve-sparing radical prostatectomy has several intriguing parallels to myomectomy.

NT, NPY and PGP 9.5 presence in myomeytrium and in fibroid pseudocapsule and their possible impact on muscular physiology.

The uterine myoma pseudocapsule is a neurovascular bundle surrounding fibroid, containing neuropeptides, probably involved in uterine scar healing. We studied neurotensin (NT), neuropeptide tyrosine (NPY), and protein gene product 9.5 (PGP 9.

Ultrasound evaluation of uterine healing after laparoscopic intracapsular myomectomy: an observational study.

Study Question: Can uterine scar healing after laparoscopic intracapsular myomectomy (LIM) be adequately monitored by traditional two-dimensional (2D) ultrasound (US) and Doppler velocimetry?

Summary Answer: The myometrial area of the scar after LIM can be followed by 2D US and Doppler velocimetry.

What Is Known Already: Apart from post-surgical adhesions, the main concern linked to laparoscopic myomectomy is the quality of healing of the myometrial incision: it has been suggested that US could be useful for assessing uterine scars after myomectomy. However, no diagnostic method has yet been widely accepted to assess the healing process.

Uterine fibroid pseudocapsule studied by transmission electron microscopy.

Objective: The fibroid pseudocapsule is a structure which surrounds the uterine fibroid, separates it from the uterine tissue and contains a vascular network rich in neurotransmitters like a neurovascular bundle. The authors examined the composition of the fibroid pseudocapsule using electron microscopy.

Study Design: Twenty non-pregnant patients were submitted to laparoscopic myomectomy by the intracapsular method and samples of the removed pseudocapsules were analyzed using transmission electron microscopy.

Effect of avoiding bladder flap formation in caesarean section on repeat caesarean delivery.

Objectives: To evaluate the effect of bladder flap formation (BFF) during caesarean section (CS) on the uterine scar, assessed during repeat CS.

Study Design: One hundred and fifteen women undergoing their first CS were divided into two groups: 58 women had a CS with BFF (Group 1) and 57 women had a CS without BFF (Group 2). During the repeat CS, four specimens from the uterine scar from the first CS were collected from each woman, and evaluated by light microscopy and transmission electron microscopy (TEM).

Prevention of lymphocele in female pelvic lymphadenectomy by a collagen patch coated with the human coagulation factors: a pilot study.

Background And Objectives: The prevention of lymphoceles was tested using collagen patch coated with the human coagulation factors (TachoSil) on 58 consecutive patients with endometrial cancer who had undergone hysterectomy and pelvic lymphadenectomy (PL).

Methods: Patients were randomized in two groups: standard technique plus TachoSil (30 patients, group 1) and standard technique only (28, group 2). All surgical parameters were collected and patients underwent ultrasound examination on postoperative days 7, 14, and 28.

The management of fibroids based on immunohistochemical studies of their pseudocapsules.

Background: We examined the presence of collagen IV and laminin in the pseudocapsule of uterine myomata to clarify different ultra-structural characteristics and their possible role in the management of this condition.

Methods: Twenty non-pregnant patients underwent laparoscopic intracapsular myomectomies. Samples of the removed fibroids pseudocapsules were analyzed by immunochemical staining for collagen IV, immunohistochemical location of the vascular membrane-bound laminin and quantitative analysis of their images.

Neurovascular bundle in fibroid pseudocapsule and its neuroendocrinologic implications.

The myoma pseudocapsule is a surgical-anatomical entity surrounding the fibroid that separates the myoma from normal uterine tissue. The myoma pseudocapsule has a delicate vascular network rich with neurotransmitters analogous to the neurovascular bundle surrounding the prostate. The pseudocapsule neurovascular bundle is extremely important during myomectomy to promote uterine myometrial healing and, consequently, for uterine reproductive function.