Le mutilazioni genitali femminili. Analisi delle implicazioni culturali e commento alla “Legge Consolo”

Le ‘mutilazioni genitali femminili’ (MGF) sono tutte le pratiche che portano alla rimozione parziale o totale o ad altri danni dei genitali esterni femminili compiuti sulla base di motivazioni culturali o altre motivazioni non terapeutiche. Usualmente le MGF vengono distinte in diverse tipologie. Tipo I: Incisione o ablazione del prepuzio clitorideo. Tipo II: Asportazione o più propriamente escissione del prepuzio clitorideo e/o di tutto il clitoride, con asportazione parziale o totale delle piccole labbra. Tipo III: Escissione completa del prepuzio clitorideo, delle piccole labbra e cruentazione delle grandi labbra, che vengono fatte aderire in modo da cicatrizzarle unite, ricoprendo meato uretrale ed introito vaginale. Costituisce l'infibulazione propriamente detta, ‘l’infibulazione faraonica’. Nonostante le mutilazioni genitali femminili vengano molto spesso considerate parte di alcune religioni, in realtà esse hanno una valenza puramente culturale e sociale. Recentemente, è stata promulgata la Legge 09/01/2006 n. 7, recante “Disposizioni concernenti la prevenzione e il divieto delle pratiche di mutilazione genitale femminile”, strumento legislativo con un duplice intento: ‘formativo’ e ‘repressivo’. Vengono quindi analizzati i limiti di questa Legge, ovvero fino a che punto è possibile e soprattutto giusto reprimere, forzare o imporre? E’ nel convincimento che i nostri modelli sociali e culturali siano migliori, la chiave dell’eradicazione? O piuttosto nell’educazione e nell’aiuto? La questione è aperta per molte riflessioni

RELATION BETWEEN MATERNAL THROMBOPHILIA AND STILLBIRTH ACCORDING TO CAUSES/ASSOCIATED CONDITIONS OF DEATH

OBJECTIVE: To investigate maternal thrombophilia in cases of Stillbirth (SB), also an uncertain topic because most case series were not characterised for cause/associated conditions of death. STUDY DESIGN: In a consecutive, prospective, multicentre design, maternal DNA was obtained in 171 cases of antenatal SB and 326 controls (uneventful pregnancy at term, 1:2 ratio). Diagnostic work-up of SB included obstetric history, neonatologist inspection, placenta histology, autopsy, microbiology/chromosome evaluations. Results audited in each centre were classified by two of us by using CoDAC. Cases were subdivided into explained SB where a cause of death was identified and although no defined cause was detected in the remnants, 64 cases found conditions associated with placenta-vascular disorders (including preeclampsia, growth restriction and placenta abruption - PVD). In the remnant 79 cases, no cause of death or associated condition was found. Antithrombin activity, Factor V Leiden, G20210A Prothrombin mutation (FII mutation) and acquired thrombophilia were analysed. RESULTS: Overall, the presence of a thrombophilic defect was significantly more prevalent in mothers with SBs compared to controls. In particular, SB mothers showed an increased risk of carrying Factor II mutation (OR=3.2, 95\% CI: 1.3-8.3, p=0.01), namely in unexplained cases. Such mutation was significantly associated also with previous SB (OR=8.9, 95\%CI 1.2-70.5). At multiple logistic regression, Factor II mutation was the only significantly associated variable with SB (adj OR=3.8, 95\% CI: 1.3-13.5). CONCLUSION: These data suggest that Factor II mutation is the only condition specifically associated with unexplained SB and could represents a risk of recurrence. PVD-associated condition is unrelated to thrombophilia

Prediction of preterm birth with and without preeclampsia using mid-pregnancy immune and growth-related molecular factors and maternal characteristics.

OBJECTIVE:To evaluate if mid-pregnancy immune and growth-related molecular factors predict preterm birth (PTB) with and without (±) preeclampsia. STUDY DESIGN:Included were 400 women with singleton deliveries in California in 2009-2010 (200 PTB and 200 term) divided into training and testing samples at a 2:1 ratio. Sixty-three markers were tested in 15-20 serum samples using multiplex technology. Linear discriminate analysis was used to create a discriminate function. Model performance was assessed using area under the receiver operating characteristic curve (AUC). RESULTS:Twenty-five serum biomarkers along with maternal age <34 years and poverty status identified >80% of women with PTB ± preeclampsia with best performance in women with preterm preeclampsia (AUC = 0.889, 95% confidence interval (0.822-0.959) training; 0.883 (0.804-0.963) testing). CONCLUSION:Together with maternal age and poverty status, mid-pregnancy immune and growth factors reliably identified most women who went on to have a PTB ± preeclampsia

Genetic Variants in FBN-1 and Risk for Thoracic Aortic Aneurysm and Dissection.

OBJECTIVES: A recent genome wide association study (GWAS) by LeMaire et al. found that two single nucleotide polymorphisms (SNPs), rs2118181 and rs10519177 in the FBN-1 gene (encoding Fibrillin-1), were associated with thoracic aortic dissection (TAD), non-dissecting thoracic aortic aneurysm (TAA), and thoracic aortic aneurysm or dissection (TAAD); the largest effect was observed for the association of rs2118181 with TAD. We investigated whether rs2118181 and rs10519177 were associated with TAD, TAA, and TAAD in the Yale study. METHODS: The genotypes of rs2118181 and rs10519177 were determined for participants in the Yale study: 637 TAAD cases (140 TAD, 497 TAA) and 275 controls from the United States, Hungary, and Greece. The association of the genotypes with TAD, TAA and TAAD were assessed using logistic regression models adjusted for sex, age, study center and hypertension. RESULTS AND CONCLUSIONS: In the Yale study, rs2118181 was associated with TAD: compared with non-carriers, carriers of the risk allele had an unadjusted odds ratio for TAD of 1.80 (95% CI 1.15-2.80) and they had odds ratio for TAD of 1.87 (95% CI 1.09-3.20) after adjusting for sex, age, study center and hypertension. We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37-5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36-5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study. Thus, the Yale study provided further support for the association of the FBN-1 rs2118181SNP with TAD

Syncytiotrophoblast derived extracellular vesicles transfer functional placental miRNAs to primary human endothelial cells

During the pregnancy associated syndrome preeclampsia (PE), there is increased release of placental syncytiotrophoblast extracellular vesicles (STBEVs) and free foetal haemoglobin (HbF) into the maternal circulation. In the present study we investigated the uptake of normal and PE STBEVs by primary human coronary artery endothelial cells (HCAEC) and the effects of free HbF on this uptake. Our results show internalization of STBEVs into primary HCAEC, and transfer of placenta specific miRNAs from STBEVs into the endoplasmic reticulum and mitochondria of these recipient cells. Further, the transferred miRNAs were functional, causing a down regulation of specific target genes, including the PE associated gene fms related tyrosine kinase 1 (FLT1). When co-treating normal STBEVs with HbF, the miRNA deposition is altered from the mitochondria to the ER and the cell membrane becomes ruffled, as was also seen with PE STBEVs. These findings suggest that STBEVs may cause endothelial damage and contribute to the endothelial dysfunction typical for PE. The miRNA mediated effects on gene expression may contribute to the oxidative and endoplasmic reticulum stress described in PE, as well as endothelial reprogramming that may underlay the increased risk of cardiovascular disease reported for women with PE later in life

An unknown hotspot of plant diversity in the heart of the Central Apennine. Flora and vegetation outline of Mt. Pozzoni-St. Rufo valley (Cittareale, Rieti)

Surprisingly enough, Italy still has some botanically unexplored areas; among these there are some territories between Lazio, Umbria and Abruzzo not included in any protected area. The study area, ranging for 340 ha, includes the mountainous area of Mt. Pozzoni-Mt. Prato-St. Rufo valley, which forms the upper part of the river Velino basin, located in the territory of the municipality of Cittareale (Rieti, Lazio), at an elevation from 1150 to 1903 m a.s.l. The substrate is mainly made of marly limestone of the MesoCenozoic Umbria-Marche sedimentary succession. The climate is Temperate and comprises vegetation belts from the montane to sub-alpine. Land cover is dominated by pastures and deciduous forests, with only a few hay meadows. 794 entities have been detected: 16% are considered rare or very rare for the regional territory with several floristic novelties for the regional flora, 6% of the total was found to be endemic to Italy and only eight taxa were aliens. Four taxa are new for the regional flora of Lazio: Arum cylindraceum, Alopecurus pratensis subsp. pratensis, Hieracium bupleuroides and Trinia glauca subsp. glauca. Forest vegetation is represented by beech forests, while dry grasslands are the most widespread vegetation type. The greatest phytocoenotic diversity was found within the secondary pastures. Particularly interesting is the plant community with Iris marsica, which suggests that limestone mountain ledges can represent a primary habitat for this endemic species of the Central Apennine. The presence of several habitats listed in the EU Habitat Directive indicates how the lack of detailed territorial knowledge can lead to the non-designation of conservation sites in areas of high naturalistic value. These findings showed that botanical explorations in territories which are still not known could contribute significantly to the identification of areas of high interest in conserving plant diversity

Building a biomimetic membrane for neutron reflectivity investigation : complexity, asymmetry and contrast

The preparation and investigation of model membranes is deserving growing interest both for the physics of complex systems, and for biology. The need of simplified models should preserve mimicking the qualifying characteristics of biological membranes, and keep non-invasive and detailed description. As a main feature, biological membranes are non-homogeneous in the disposition of components, both in the lateral and in the transverse direction. We prepared asymmetric supported membranes containing GM1 ganglioside in biomimetic proportion according to different protocols. Then, we studied their internal structure by neutron reflectometry, providing few-Angstrom sensitivity in the cross direction meanwhile avoiding radiation damage. This technique can also be profitably applied to study interactions at the membrane surface. The best protocol has proven to be the Langmuir-Blodgett/Langmuir-Schaefer depositions. Notably, also the simpler and most accessible protocol of vesicle fusion was found to be suitable for straightforward and good quality deposition of compositionally asymmetric membranes

Placental thrombomodulin expression in recurrent miscarriage

<p>Abstract</p> <p>Background</p> <p>Early pregnancy loss can be associated with trophoblast insufficiency and coagulation defects. Thrombomodulin is an endothelial-associated anticoagulant protein involved in the control of hemostasis and inflammation at the vascular beds and it's also a cofactor of the protein C anticoagulant pathway.</p> <p>Discussion</p> <p>We evaluate the Thrombomodulin expression in placental tissue from spontaneous recurrent miscarriage and voluntary abortion as controls. Thrombomodulin mRNA was determined using real-time quantitative polymerase chain reaction. Reduced expression levels of thrombomodulin were found in recurrent miscarriage group compared to controls (1.82-fold of reduction), that corresponds to a reduction of 45% (from control group Delta CT) of thrombomodulin expression in spontaneous miscarriage group respect the control groups.</p> <p>Summary</p> <p>We cannot state at present the exact meaning of a reduced expression of Thrombomodulin in placental tissue. Further studies are needed to elucidate the biological pathway of this important factor in the physiopathology of the trophoblast and in reproductive biology.</p