Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data on 6 adult patients.

Indication of prophylactic vaccines as a tool for secondary prevention in HPV-linked disease.

Purpose: To determine whether quadrivalent HPV vaccination is effective in reducing recurrent disease in women with a previous history of HPV disease.

Methods: All women under 45 years of age treated for HPV-linked disease and with negative HPV test, cytology and colposcopy 3 months after treatment were enrolled. Women were randomly assigned into two groups: a group that received HPV vaccine post treatment and a group that was only submitted to follow-up.

On the generation of nonlinear damage resonance intermodulation for elastic wave spectroscopy.

Recent nonlinear elastic wave spectroscopy experiments have shown that the nonlinear ultrasonic response of damaged composite materials can be enhanced by higher vibrations at the local damage resonance. In this paper, the mathematical formulation for the generation of nonlinear wave effects associated with continuous periodic excitation and the concept of local defect resonance is provided. Under the assumption of both quadratic and cubic approximation, the existence of higher harmonics of the excitation frequency, superharmonics of the damage resonance frequency and nonlinear wave effects, here named as nonlinear damage resonance intermodulation, which correspond to the nonlinear intermodulation between the driving and the damage resonance frequencies, is proved.

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.

Previous reports summarized the seizure types occurring in patients with idic(15) syndrome. To better define this issue, we retrospectively analyzed the evolution of electroencephalogram findings and seizures in 35 patients with confirmed idic(15). Epilepsy occurred in 28 patients (80%), with a median age of onset of 3 years 3 months.

A comparison between Pap and HPV screening tests and screening methods.

The present study assesses the results of cervical cancer (CC) screening over two 3-year periods (2008-2010 and 2011-2013) by comparing two screening tests [Papanicolaou (Pap) and human papillomavirus (HPV) tests] and two screening methods (organized and spontaneous). The study population includes women aged 25-64 years who underwent CC screening between 2008 and 2010 and/or 2011 and 2013, divided into those who responded to an invitation letter (organized screening) and those who spontaneously underwent testing at a public or private facility (non-programmed screening). Between 2008 and 2010, the response rates increased from 27.

Nonlinear elastic wave tomography for the imaging of corrosion damage.

This paper presents a nonlinear elastic wave tomography method, based on ultrasonic guided waves, for the image of nonlinear signatures in the dynamic response of a damaged isotropic structure. The proposed technique relies on a combination of high order statistics and a radial basis function approach. The bicoherence of ultrasonic waveforms originated by a harmonic excitation was used to characterise the second order nonlinear signature contained in the measured signals due to the presence of surface corrosion.

DNA methylation of HOXA10 in eutopic and ectopic endometrium.

Study Question: Does the methylation status of the promoter region of the HOXA10 gene differ in eutopic and ectopic endometrium?

Summary Answer: The eutopic endometrium in women with endometriosis is significantly more methylated when compared with controls.

What Is Known Already: Expression of the HOXA10 gene, which is important for successful implantation, is reduced in women affected by endometriosis.

Study Design, Size And Duration: A pilot study was carried out including 18 women admitted for surgery for endometriosis-related pain (cases) and 12 women admitted for surgery because of non-endometriotic disease (control).

Over-Expression of the LH Receptor Increases Distant Metastases in an Endometrial Cancer Mouse Model.

Objective: The aim of the present study was to define the role of luteinizing hormone receptor (LH-R) expression in endometrial cancer (EC), using preclinical mouse models, to further transfer these data to the clinical setting.

Materials And Methods: The role of LH-R over-expression was studied using EC cells (Hec1A, e.g.

[Cigarette smoking in pregnancy: observational prospective study in three towns of Tuscany Region (Central Italy)].

Objective: to assess the prevalence of smoking in pregnancy and its changes after childbirth, and the characteristics associated with a greater likelihood of smoking during pregnancy in a sample of women attending three university hospitals in Tuscany (Central Italy).

Design: observational prospective multicentric study.

Setting And Participants: 1,036 women in ninth month of pregnancy were enrolled at the teaching hospitals of Careggi (Firenze), Pisa and Siena.

Expression of adhesion, attachment and invasion markers in eutopic and ectopic endometrium: a link to the aetiology of endometriosis.

Background: Cell properties, such as attachment, adhesion and invasion, are important for the normal function of the endometrium. However, it is believed that the same properties may also be involved in the development of gynaecological diseases, such as endometriosis. Endometrial cells, shed by retrograde menstruation, may have an aberrant expression of molecules involved in these functions, leading to endometriosis.

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malformations, failure to thrive and severe intellectual disabilities. Recently, the cause was identified on the basis of de novo heterozygous mutations in the ASXL1 gene. We report on two novel cases carrying two previously undescribed mutations (c.

Mini-laparotomy versus vaginal surgery for class II-III obese patients with early-stage endometrial cancer.

Aim: To compare minilaparotomic and vaginal surgery in selected obese patients with early-stage endometrial cancer at high surgical risk.

Patients And Methods: Data of 37 consecutive class II-III obese patients submitted to minilaparotomic surgery were retrospectively reviewed. Thirty-seven women matched for demographic characteristics, BMI and stage of disease submitted to vaginal surgery in the same period comprised the control group.

Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.

We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5p13.

The effect of the hormonal milieu of pregnancy on deep infiltrating endometriosis: serial ultrasound assessment of changes in size and pattern of deep endometriotic lesions.

Background: Deep infiltrating endometriosis (DIE) is associated with severe painful symptoms and represents a complex management challenge.

Objective: To analyse the effect of pregnancy on deep infiltrating lesions and related symptomatology.

Study Design: As part of a longitudinal study performed over the past 3 years to determine the efficacy of hormonal treatment in treating women with DIE, we identified three cases of advanced pelvic endometriosis, all with DIE (deep recto-vaginal and recto-sigmoid involvement) where patients achieved spontaneous pregnancies.

[Tamoxifen, endometrial cancer risk and liquid based cytology. A paradigmatic case].

Long-term users of tamoxifen (TMX) are at increased risk for developing endometrial cancer. Early diagnosis is mainly based on transvaginal scan (TVS) and hysteroscopy with endometrial biopsy. Nevertheless, TVS does not provide a definitive diagnosis in most cases, particularly due to its high false-positive rate.

Ovarian surgery for bilateral endometriomas influences age at menopause.

Background: Questions remain as to whether surgical excision of ovarian endometriomas might cause damage to ovarian function. To test the hypothesis that ovarian surgery for endometrioma compromises ovarian function and accelerates ovarian failure.

Methods: In a tertiary university Clinic, longitudinal prospective cohort study.

Impact of endometriosis on in vitro fertilization and embryo transfer cycles in young women: a stage-dependent interference.

Objective: Endometriosis is a frequent indication for in vitro fertilization and embryo transfer (IVF-ET). Its influence on IVF-ET cycles remains controversial. We evaluated the impact of the severity of endometriosis on IVF-ET cycles in young women.

Long-term follow-up after laparoscopic treatment for endometriosis: multivariate analysis of predictive factors for recurrence of endometriotic lesions and pain.

Objective: To investigate factors that might influence the recurrence of both painful symptoms and endometriotic lesions following laparoscopic treatment of endometriosis.

Study Design: Retrospective cohort study in a University teaching hospital. We reviewed data from patients referred for laparoscopy between March 1993 and November 2007.

DNA ploidy is stronger than lymph node metastasis as prognostic factor in cervical carcinoma: 10-year results of a prospective study.

Introduction: To improve the outcome of patients with cervical cancer, a more accurate prognostic assessment is essential. The aim of this study was to evaluate the role of tumor DNA ploidy as an independent prognostic factor in cervical carcinoma. Furthermore, we investigated whether the presence of lymph node metastasis may have a different clinical impact according to ploidy status.

Quantitative variation analysis of fetal DNA in maternal plasma samples collected before and after amniocentesis.

Aims: The aim of this study was to evaluate possible procedure-related variations in the levels of cell-free fetal DNA (fDNA) in maternal plasma of women undergoing genetic amniocentesis.

Materials And Methods: Blood samples were collected at 16-18 weeks' gestation from 33 pregnant women attending the Fetal Medicine Unit for genetic amniocentesis. For each woman, two blood samples were obtained: the first immediately before amniocentesis and the second one 15 min after the procedure.

Techniques of laparoscopic myomectomy.

Myomectomy is one of the commonest gynaecological operations. Laparoscopic myomectomy has emerged over the last two decades as a possible alternative to the traditional laparotomy. Most studies have revealed that the laparoscopic procedure is at least as safe as the open procedure as to the rate of complications and may retain relevant advantages in terms of shorter admission and recovery times.

Use of a No. 11 blade scalpel and reusable blunt trocar to establish pneumoperitoneum: description of a safe and inexpensive technique.

First access is crucial in laparoscopic surgery because of its potentially life-threatening complications. A number of procedures using a variety of instruments have been previously described; however, the safest approach remains uncertain. Herein, we describe a simple and inexpensive method for direct trocar insertion using reusable instruments that was developed over 10 years in a series of 4721 consecutive gynecologic laparoscopic procedures.

Levonorgestrel-releasing intrauterine system (LNG-IUS) as an effective treatment option for endometrial hyperplasia: a 15-year follow-up study.

The levonorgestrel-releasing intrauterine system may represent an effective treatment option in >85% of endometrial hyperplasia cases, but histologic regression during and/or at the end of treatment does not assure stable recovery. We recommend periodic endometrial samplings for at least the first 2 years of follow-up and long-term clinical surveillance thereafter.

The LH/hCG Axis in Endometrial Cancer: A New Target in the Treatment of Recurrent or Metastatic Disease.

Endometrial cancer (EC) is a hormone-dependent cancer that currently represents the most frequent malignancy of the female reproductive tract. The involvement of steroid hormones in EC etiology and progression has been reported. More recently, gonadotropins, and, in particular LH/hCG, are emerging as novel regulators of tumor progression.

Effects of epidural and systemic maternal analgesia in term infants: the NoPiL study.

The aim of the No Pain in Labour (NoPiL) study was to evaluate the stress and clinical outcome of infants vaginally born without maternal analgesia and after maternal epidural or systemic analgesia. We studied 120 healthy term infants, 41 in the no analgesia group, 38 in the epidural analgesia group, and 41 in the systemic analgesia group. Cortisol, beta-endorphin, oxidative stress markers (ie: total hydroperoxide (TH) and advanced oxidation protein products (AOPP)), interleukin-1beta (IL-1beta), and interleukin-8 (IL-8) cytokines were measured in arterial cord blood samples.