Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)

Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant. Methods: data on 804 pregnant women out of 2 158 (37.3%) referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study. Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9%) were identified during pregnancy and 607 (65.1%) were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01) had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established. Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered

In vitro characterization of iridoid and phenylethanoid glycosides from Cistanche phelypaea for nutraceutical and pharmacological applications

"Desert hyacinths" are a remarkable group of parasitic plants belonging to genus Cistanche, including more than 20 accepted species typically occurring in deserts or coastal dunes parasitizing roots of shrubs. Several Cistanche species have long been a source of traditional herbal medicine or food, being C. deserticola and C. tubulosa the most used in China. This manuscript reports the isolation and identification of some phenylethanoid and iridoid glycosides, obtained from the hydroalcoholic extract of C. phelypaea collected in Spain. The present study aims to characterize the antioxidant activity of C. phelypaea metabolites in the light of their application in nutraceutical and cosmeceutical industries and the effect of acetoside, the most abundant metabolite in C. phelypaea extract, on human keratinocyte and pluripotent stem cell proliferation and differentiation. Our study demonstrated that acetoside, besides its strong antioxidant potential, can preserve the proliferative potential of human basal keratinocytes and the stemness of mesenchymal progenitors necessary for tissue morphogenesis and renewal. Therefore, acetoside can be of practical relevance for the clinical application of human stem cell cultures in tissue engineering and regenerative medicine

Twinning as an Evolved Age-Dependent Physiological Mechanism: Evidence from Large Brazilian Samples

Multiple pregnancies occur in humans and other primates, which indicate that the twinning propensity is phylogenetically old. Factors such as decreased sexual dimorphism and size, rich and diverse nutrition and paternal care are related to multiple pregnancies in other animals. In human populations, despite its costs, twinning has a genetic basis and in Europe, Africa, and America, it was found that it increases mothers’ fitness. Here, we explore the hypothesis that twinning represents an evolved physiological mechanism, particularly in mothers of higher age, as an ‘all-or-nothing’ last chance strategy for reproduction just before menopause. We present decade-long, large-scale population data about maternities from the city of São Paulo and the entire country of Brazil that indicate a considerable main effect of advanced age in promoting twinning, particularly dizygotic (DZ) twinning, but also monozygotic (MZ) twinning and higher order maternities. We also show that socioeconomic status is an important contextual factor increasing twinning. Besides the theoretical implications, these datasets establish a Brazilian countrywide twinning rate of 9.39‰ and highlight an increasing historical trend. This chapter promotes the importance of integrating proximate patterns from human and nonhuman animals and evolutionary factors in order to reach a comprehensive view about twinning

Surgical approach to adrenal ganglioneuroma: Case report and literature review

Objective: Ganglioneuroma (GN) is a benign tumor with a slow growth that can originate from any paravertebral sympathetic plexus. It is usually asymptomatic or with nonspecific symptoms. TC and RM scan are helpful to study GN. It is usually represented by an ovalshaped retroperitoneal mass or, in case of adrenal impairment, by low radiologic contrast media attenuation. Surgical treatment is mandatory. Literature shows how the laparoscopic approach is the most used, especially in lesions that are 6 cm or smaller. Our purpose is to describe our experience on an incidental adrenal GN of about 5 cm treated by the laparoscopic transperitoneal approach. Materials and methods: A 33-year-old male had ultrasound occasional finding of an about 4 cm adrenal mass. TC and RM scan identified a retroperitoneal mass (max diameter 48 mm). The lesion was removed with a transperitoneal laparoscopic approach. Results: No intraoperative or postoperative complications occurred. The patient was discharged 3 days after surgery. Conclusions: Up to the present laparoscopic surgery is the best approach for GN treatment

Progression of Renal Impairment and Chronic Kidney Disease in Chronic Heart Failure:An Analysis From GISSI-HF

AbstractBackgroundData on the natural change in renal function in patients with chronic heart failure (HF) are limited.Methods and ResultsEstimated glomerular filtration rate (eGFR) was assessed over 36 months in 6934 patients included in the GISSI-HF study. Associations from baseline, changes in renal function, and occurrence of cardiovascular death or HF hospitalization were assessed. Mean age was 67 years, mainly men (78%), and mean eGFR was 68 mL • min−1 • 1.73 m−2. Change in eGFR in the 1st year was −1.5 ± 16 mL • min−1 • 1.73 m−2, and over 36 months it was −3.7 ± 18 mL • min−1 • 1.73 m−2. Over the latter period, only 25% deteriorated ≥1 Kidney Disease Outcomes Quality Initiatives (KDOQI) class of chronic kidney disease (CKD). Fifteen percent of patients had >15 mL • min−1 • 1.73 m−2 decrease in eGFR in the 1st 12 months. Lower eGFR was associated with outcome: hazard ratio (HR) 1.10, 95% confidence interval (CI) 1.08–1.10 (P < .001) per 10 mL • min−1 • 1.73 m−2 decrease, as well as every 10 mL • min−1 • 1.73 m−2 decrease over the 1st year (HR 1.10, 95% CI 1.04–1.17; P < .001). A deterioration in eGFR >15 mL • min−1 • 1.73 m−2 in the 1st year showed the highest risk of events (HR 1.22, 95% CI 1.10–1.36; P < .001).ConclusionsMean decrease in renal function over time in patients with chronic HF was modest. Only 25% deteriorated ≥1 KDOQI class of CKD after 3 years. Any decrease in eGFR over time was associated with strongly increased event rates

Prognostic Impact of Diabetes and Prediabetes on Survival Outcomes in Patients With Chronic Heart Failure: A Post-Hoc Analysis of the GISSI-HF (Gruppo Italiano per lo Studio della Sopravvivenza nella Insufficienza Cardiaca-Heart Failure) Trial

The independent prognostic impact of diabetes mellitus (DM) and prediabetes mellitus (pre-DM) on survival outcomes in patients with chronic heart failure has been investigated in observational registries and randomized, clinical trials, but the results have been often inconclusive or conflicting. We examined the independent prognostic impact of DM and pre-DM on survival outcomes in the GISSI-HF (Gruppo Italiano per lo Studio della Sopravvivenza nella Insufficienza Cardiaca-Heart Failure) trial

skin flap squamous cell carcinoma developed after urethroplasty

Objectives: To describe our experience in diagnosis and treatment of urethral carcinoma following urethroplasty with a Orandi penile skin flap. Material and methods: Our patient underwent to Orandi penile skin flap urethroplasty then developed a urethral epidermoid carcinoma on the flap approximately 15 years later. We treated this case with a partial penectomy surgery and perineostomy. Surgery was followed by chemotherapy with cisplatin and 5-fluorouracil. The progression of the disease led to a salvage surgery of total penectomy and asportation of testicles and scrotum.Results: Despite the success of the surgery, the disease progressed and three months after the last surgical operation the patient died. Conclusions: Urethral carcinoma on skin flap is a rare complication of the urethroplasty surgery but with severe consequences, so we recommend to undertake a long-term urological follow up in patients undergone such kind of surgery

Experimental Paradigm for the Assessment of the Non-pharmacological Mechanism of Action in Medical Device Classification: The Example of Glycerine as Laxative

The evolution of medical devices has led to the introduction of medical devices that include “substances” and which, due to their presentation and sites of application may resemble medicinal products. The difference between substance-based medical devices and medicinal products lies in the proper definition of the principal mechanism of action. The major problem at the moment is the lack of a proper procedure for the demonstration of a mechanism that is “not pharmacological, immunological or metabolic.” We aimed to design an experimental set up to demonstrate the difference between the mechanism of action of two substances used commonly for the treatment of constipation, lubiprostone (example of medicinal product) and glycerine (example of medical device). By implementing cellular models and molecular analyses we demonstrate the difference in their mechanism of action. This set up can be considered an example on the possibility to define a paradigm for the case by case study of the mechanism of action of substances and combination of substances in medical devices

MoO3 films grown on polycrystalline Cu: Morphological, structural, and electronic properties

In this work, the authors investigated MoO3 films with thickness between 30 nm and 1 μm grown at room temperature by solid phase deposition on polycrystalline Cu substrates. Atomic force microscopy, scanning electron microscopy, and scanning tunneling microscopy revealed the presence of a homogenous MoO3 film with a "grainlike" morphology, while Raman spectroscopy showed an amorphous character of the film. Nanoindentation measurements evidenced a coating hardness and stiffness comparable with the copper substrate ones, while Auger electron spectroscopy, x-ray absorption spectroscopy, and secondary electron spectroscopy displayed a pure MoO3 stoichiometry and a work function Φ MoO3 = 6.5 eV, 1.8 eV higher than that of the Cu substrate. MoO3 films of thickness between 30 and 300 nm evidenced a metallic behavior, whereas for higher thickness, the resistance-temperature curves showed a semiconducting character

Climat, environnement et sociétés de la Préhistoire du sud tunisien: résultats préliminaires et perspectives de la recherche

We present the preliminary results of a Tunisian-Italian project of scientific collaboration in the field of environmental studies and prehistoric and anthropological research in southern Tunisia ruled by an interdisciplinary approach that includes geo-archeology, geochronology, geochemistry, palynology, paleoanthropology and population genetics. The research area is south of the Chott el Jerid and its surroundings, where the major physiographic feature is a large playa which contained one of the mega lakes that existed in the Sahara during wet periods in the late Quaternary. The region is a pivotal area between the Mediterranean and the Sahara, then favorable to study the cultural diffusion and humans displacements through different periods and environments.Nous présentons les résultats préliminaires d'un projet Tuniso-Italien de collaboration scientifique dans le domaine des études environnementales et de la recherche préhistorique et anthropologique en Tunisie méridionale mené selon une approche interdisciplinaire qui comprend la géo-archéologie, la géochronologie, la géochimie, la palynologie, la paléoanthropologie et la génétique. La zone de recherche se trouve au sud du Chott el Jérid  et ses environs. Il s’agit d’une zone caractérisée par la présence de l’un des méga lacs qui existaient dans le Sahara pendant les périodes humides à la fin du Quaternaire. La région est une zone charnière entre la Méditerranée et le Sahara, donc favorable à l’étude des diffusions culturelles et des déplacements humains à travers les différentes périodes et environnements. Nous présentons les résultats préliminaires d’un projet Tuniso-Italien de collaboration scientifique dans le domaine des études environnementales et de la recherche préhistorique et anthropologique en Tunisie méridionale mené selon une approche interdisciplinaire qui comprend la géo-archéologie, la géochronologie, la géochimie, la palynologie, la paléoanthropologie et la génétique. La zone de recherche se trouve au sud du Chott el Jérid et ses environs. Il s’agit d’une zone caractérisée par la présence de l’un des méga lacs qui existaient dans le Sahara pendant les périodes humides à la fin du Quaternaire. La région est une zone charnière entre la Méditerranée et le Sahara, donc favorable à l’étude des diffusions culturelles et des déplacements humains à travers les différentes périodes et environnements.We present the preliminary results of a Tunisian-Italian project of scientific collaboration in the field of environmental studies and prehistoric and anthropological research in southern Tunisia ruled by an interdisciplinary approach that includes geo-archeology, geochronology, geochemistry, palynology, paleoanthropology and population genetics. The research area is south of the Chott el Jerid and its surroundings, where the major physiographic feature is a large playa which contained one of the mega lakes that existed in the Sahara during wet periods in the late Quaternary. The region is a pivotal area between the Mediterranean and the Sahara, then favorable to study the cultural diffusion and humans displacements through different periods and environments