Vibrational properties of graphdiynes as 2D carbon materials beyond graphene.

Two-dimensional (2D) hybrid sp-sp2 carbon systems are an appealing subject for science and technology. For these materials, topology and structure significantly affect electronic and vibrational properties. We investigate here by periodic density-functional theory (DFT) calculations the Raman and IR spectra of 2D carbon crystals belonging to the family of graphdiynes (GDYs) and having different structures and topologies. By joining DFT calculations with symmetry analysis, we assign the IR and Raman modes in the spectra of all the investigated systems. On this basis, we discuss how the modulation of the Raman and IR active bands depends on the different interactions between sp and sp2 domains. The symmetry-based classification allows identifying the marker bands sensitive to the different peculiar topologies. These results show the effectiveness of vibrational spectroscopy for the characterization of new nanostructures, deepening the knowledge of the subtle interactions that take place in these 2D materials.

Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients.

PURPOSE: Worldwide publications follow the gold standard method-the polymerase chain reaction (PCR)-for detecting Y-chromosome microdeletions; however, markers are frequently variable between the studies. Can we detect the deletions by another molecular method with more genomic coverage? The Y chromosome harbors several different genes responsible for testicular development and spermatogenesis, and its repetitive conformation predisposes it to complex rearrangements that have clinical impact. Our aim was to evaluate a molecular diagnostic method, the Multiplex Ligand Probe-dependent Amplification (MLPA), which is also a valuable ancillary method for the identification of deletions, duplications, and rearrangements in a single and faster reaction, leading to a better comprehension of patients' phenotypes, and should be considered a useful tool for detection of Y chromosome deletions. METHODS: This is a study of diagnostic accuracy (transversal prospective study) conducted to investigate Y-chromosome deletions in 84 individuals through PCR and MLPA methods. Forty-three infertile men (azoospermic and oligozoospermic) and 41 controls (40 fertile men and 1 normal karyotyped woman) were analyzed by PCR and MLPA techniques. RESULTS: We diagnosed seven (7) deletions (16.2%) by PCR and 9 with MLPA (21%). In addition, we found five (5) duplications and a suggestive mosaic. CONCLUSION: Our results demonstrate that MLPA technique is valuable in the investigation of microdeletions and microduplications. Besides deletions, duplications can cause instability of chromosome genes, possibly leading to infertility. Both studied techniques provide an advantageous diagnostic strategy, thus enabling a better genetic counseling.

A novel RNA aptamer identifies plasma membrane ATP synthase beta subunit as an early marker and therapeutic target in aggressive cancer.

PURPOSE: Primary breast and prostate cancers can be cured, but metastatic disease cannot. Identifying cell factors that predict metastatic potential could guide both prognosis and treatment. METHODS: We used Cell-SELEX to screen an RNA aptamer library for differential binding to prostate cancer cell lines with high vs. low metastatic potential. Mass spectroscopy, immunoblot, and immunohistochemistry were used to identify and validate aptamer targets. Aptamer properties were tested in vitro, in xenograft models, and in clinical biopsies. Gene expression datasets were queried for target associations in cancer. RESULTS: We identified a novel aptamer (Apt63) that binds to the beta subunit of F1Fo ATP synthase (ATP5B), present on the plasma membrane of certain normal and cancer cells. Apt63 bound to plasma membranes of multiple aggressive breast and prostate cell lines, but not to normal breast and prostate epithelial cells, and weakly or not at all to non-metastasizing cancer cells; binding led to rapid cell death. A single intravenous injection of Apt63 induced rapid, tumor cell-selective binding and cytotoxicity in MDA-MB-231 xenograft tumors, associated with endonuclease G nuclear translocation and DNA fragmentation. Apt63 was not toxic to non-transformed epithelial cells in vitro or adjacent normal tissue in vivo. In breast cancer tissue arrays, plasma membrane staining with Apt63 correlated with tumor stage (p < 0.0001, n = 416) and was independent of other cancer markers. Across multiple datasets, ATP5B expression was significantly increased relative to normal tissue, and negatively correlated with metastasis-free (p = 0.0063, 0.00039, respectively) and overall (p = 0.050, 0.0198) survival. CONCLUSION: Ecto-ATP5B binding by Apt63 may disrupt an essential survival mechanism in a subset of tumors with high metastatic potential, and defines a novel category of cancers with potential vulnerability to ATP5B-targeted therapy. Apt63 is a unique tool for elucidating the function of surface ATP synthase, and potentially for predicting and treating metastatic breast and prostate cancer.

APTANI: a computational tool to select aptamers through sequence-structure motif analysis of HT-SELEX data.

MOTIVATION: Aptamers are synthetic nucleic acid molecules that can bind biological targets in virtue of both their sequence and three-dimensional structure. Aptamers are selected using SELEX, Systematic Evolution of Ligands by EXponential enrichment, a technique that exploits aptamer-target binding affinity. The SELEX procedure, coupled with high-throughput sequencing (HT-SELEX), creates billions of random sequences capable of binding different epitopes on specific targets. Since this technique produces enormous amounts of data, computational analysis represents a critical step to screen and select the most biologically relevant sequences. RESULTS: Here, we present APTANI, a computational tool to identify target-specific aptamers from HT-SELEX data and secondary structure information. APTANI builds on AptaMotif algorithm, originally implemented to analyze SELEX data; extends the applicability of AptaMotif to HT-SELEX data and introduces new functionalities, as the possibility to identify binding motifs, to cluster aptamer families or to compare output results from different HT-SELEX cycles. Tabular and graphical representations facilitate the downstream biological interpretation of results. AVAILABILITY AND IMPLEMENTATION: APTANI is available at http://aptani.unimore.it. CONTACT: silvio.bicciato@unimore.it SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Ovarian reserve in women with primary antiphospholipid syndrome.

OBJECTIVE: The objective of this paper is to evaluate ovarian reserve in primary antiphospholipid syndrome (PAPS) women and the association between ovarian reserve tests and clinical and laboratorial parameters, and anti-corpus luteum antibody (anti-CoL). METHODS: We screened 85 female patients between 18 to 40 years old with APS. Of these, 67 patients were excluded because of association with other autoimmune diseases (n = 42), contraindication or unwillingness to stop hormonal contraceptive (n = 21), current pregnancy or breastfeeding (n = 3) and previous ovarian surgery (n = 1). Therefore, a cross-sectional study was conducted in 18 PAPS patients and 24 healthy women. They were evaluated at early follicular phase with measurement of follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, and anti-Müllerian hormone (AMH) and sonographic antral follicle count (AFC). Serum measurement of anti-CoL was determined by immunoblot analysis. All analyses were performed after at least six months from the last intake of hormonal contraceptive and resumption of menstruation. RESULTS: The mean age was comparable in PAPS and controls (33.0 ± 5.0 vs. 30.4 ± 7.0 years; p = 0.19). Regarding ovarian reserve tests, the frequencies of low AFC (≤10) (56% vs. 22%, p = 0.04) and very low AFC (≤5) (37% vs. 9%, p = 0.04) were significantly higher in PAPS patients than controls. Trends of higher frequencies of reduced (<1.0 ng/ml), low (<0.5 ng/ml) and negligible (<0.2 ng/ml) AMH levels were found in PAPS patients (p = 0.08, p = 0.07 and p = 0.07, respectively). FSH, LH and estradiol were similar in patients and controls. There was no association between low ovarian reserve and specific types of antiphospholipid antibodies. Anti-CoL was solely observed in PAPS patients (11% vs. 0%; p = 0.177) and was not related to ovarian reserve tests. CONCLUSION: Women suffering from PAPS possessed reduced ovarian reserve, with prevalence greater than 50%.

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.

X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.

Electron-phonon coupling and vibrational properties of size-selected linear carbon chains by resonance Raman scattering.

UV resonance Raman spectroscopy of size-selected linear sp-carbon chains unveils vibrational overtones and combinations up to the fifth order. Thanks to the tunability of the synchrotron source, we excited each H-terminated polyyne (HCnH with n = 8,10,12) to the maxima of its vibronic absorption spectrum allowing us to precisely determine the electronic and vibrational structure of the ground and excited states for the main observed vibrational mode. Selected transitions are shown to enhance specific overtone orders in the Raman spectrum in a specific way that can be explained by a simple analytical model based on Albrecht's theory of resonance Raman scattering. The determined Huang-Rhys factors indicate a strong and size-dependent electron-phonon coupling increasing with the sp-carbon chain length.

Effect of Pristine Graphene on Methylammonium Lead Iodide Films and Implications on Solar Cell Performance.

The relatively low stability of solar cells based on hybrid halide perovskites is the main issue to be solved for the implementation in real life of these extraordinary materials. Degradation is accelerated by temperature, moisture, oxygen, and light and mediated by halide easy hopping. The approach here is to incorporate pristine graphene, which is hydrophobic and impermeable to gases and likely limits ionic diffusion while maintaining adequate electronic conductivity. Low concentrations of few-layer graphene platelets (up to 24 × 10-3 wt %) were incorporated to MAPbI3 films for a detailed structural, optical, and transport study whose results are then used to fabricate solar cells with graphene-doped active layers. The lowest graphene content delays the degradation of films with time and light irradiation and leads to enhanced photovoltaic performance and stability of the solar cells, with relative improvement over devices without graphene of 15% in the power conversion efficiency, PCE. A higher graphene content further stabilizes the perovskite films but is detrimental for in-operation devices. A trade-off between the possible sealing effect of the perovskite grains by graphene, that limits ionic diffusion, and the reduction of the crystalline domain size that reduces electronic transport, and, especially, the detected increase of film porosity, that facilitates the access to atmospheric gases, is proposed to be at the origin of the observed trends. This work demonstrated how the synergy between these materials can help to develop cost-effective routes to overcome the stability barrier of metal halide perovskites, introducing active layer design strategies that allow commercialization to take off.

Cardiac disease in the Spix Macaw (Cyanopsitta spixii): two cases.

Cardiovascular disease in avian species, other than poultry, is being increasingly reported. In psittacine birds, atherosclerosis and congestive heart failure are the leading cardiovascular diseases, often resulting in multiorgan dysfunction and demise. The Spix's macaw (Cyanopsitta spixii) is arguably the most endangered psittacine species worldwide. We aimed to describe the gross and microscopic findings in two adult Spix's macaws wherein severe cardiovascular pathology resulted in sudden death. Bird 1 had pathologic findings consistent with fibrinoheterophilic vegetative pulmonic valvular endocarditis with luminal obliterative thrombosis, myocarditis and epicarditis, myocardial fibrofatty infiltration and cardiomyocyte loss, as well as generalized septicaemia. Microbiological analysis yielded Pantoea septica from the intestines and Acinetobacter baylyi from the cerebrum. Bird 2 had changes suggestive of right brachiocephalic coarctation-like obliterative arteriopathy. The latter is a novel cardiovascular pathology in avian species, and its severity and extent likely led to acute decompensation of pre-existing cardiac disease. These results add to the body of knowledge on avian cardiovascular pathology and may aid in veterinary medical decisions on caged birds, including those part of ex situ conservation efforts.

Post-partum surgical wound infections: incidence after caesarean section in an Italian hospital.

INTRODUCTION: Despite international recommendations and general agreement on the fact that more complications arise after caesarean section, Italy ranks first in the number of caesarean sections performed each year. Aim of this cohort study was to estimate the incidence of post-partum wound infections following caesarean section in a sample of low-risk women and to examine the main risk factors correlated. METHODS: 430 mothers were included in the study. A data collection form was completed with woman's obstetric history, details of the operation and of any infection that occurred during hospital staying. A post-discharge telephone call-up surveillance after delivery was also performed RESULTS: A total of 20 (4.7%) SSIs were recorded. Through post-discharge surveillance, 85% of infections were identified. The time between membrane rupture and start of the operation was found to be associated with the development of infection (p = 0.04). No statistically significant association with any of the other risk factors was found. DISCUSSION AND CONCLUSION: From the comparison of current practices with international guideline recommendations we could identify critical points that will need to be addressed in corrective and training interactions, specifically, choice and timing of administration of antibiotics in antimicrobial prophylaxis and timing of showering and shaving.

[Smoking habits in pregnant women after the ban: a study on a sample of puerperae in Piedmont region]. / Abitudine al fumo in gravidanza dopo la Legge 3/2003. Indagine su un campione di puerpere piemontesi.

Data collected few months after the introduction of the ban of smoking in all indoor public places showed a reduction in tobacco consumption and in prevalence of Italian smokers. Aim of this retrospective study was to investigate smoking habits in pregnant women. Data have been collected from a questionnaire that investigated the way of cessation, the opinion about the ban and its influence on smoking behaviour or passive smoking exposure. Moreover, 6 months after delivery, we investigated the habits of the women who smoked just before and during pregnancy. We found a prevalence of smokers before pregnancy of 25%, a statistically significant association (p<0,01) between passive smoking exposure and the frequency of women who smoked before and in the first trimester of pregnancy, between smoking during a previous and the present pregnancy and a significant cutting down on smoking before and during pregnancy. Although the study showed a significant reduction in second hand smoking exposure in the workplaces, about 30% of the women are exposed to passive smoking in their family environment. Almost all women agreed with law 3/2003 and only 22% of the women of our sample denied any type of influence of the ban on their smoking habit or exposure. We also found that about 50% of the women who had smoked during or before pregnancy relapsed within six months after delivery, even if they were not smoking as many cigarettes as before. Smoking habit among women remains an open issue to cope with because of its prevalence and its effects on health of both women and their children.

Terrestrial passerines in an Atlantic forest remnant of Southern Brazil.

Microhabitats of four terrestrial passerines were studied in an Atlantic forest remnant of southern Brazil, in two areas (northern and southern) of the Mata dos Godoy State Park (PG). Grallaria varia and Hylopezus nattereri showed low abundance and occurred in only one PG area, while Chamaeza campanisona and Corythopis delalandi were recorded in two. The microhabitats of C. campanisona, G. varia, and H. nattereri had many large trees and a dense understory. Corythopis delalandi was in areas having few large trees.

[Smoking habits and smoking cessation in pregnancy: a study in Piedmont region]. / Abitudine al fumo e cessazione durante la gravidanza: uno studio in Piemonte.

The aim of the study was to investigate smoking habits in pregnancy in a sample of puerperae, by analyzing some risk factors associated with smoking. A retrospective study was conducted on 313 puerperae. Data about smoking habits and information received during pregnancy were collected from questionnaires compiled by the women. Univariate and multivariate analysis were performed. A statistically significant correlation was found between passive smoking in the family environment and the frequency of women who smoked before and in the first trimester of pregnancy (p < 0.01). A statistically significant correlation was also found between smoking during a previous and the present pregnancy (p < 0.01). Cutting down on smoking before and during pregnancy was statistically significant (p < 0.01). We wanted to evaluate whether level of education, place of birth and health care information could have affected this trend. We found a significant decrease in smoking when analyzing each factor singly, while no statistically significance of the difference was showed by the multivariate analysis. The most surprising finding was the absence of a difference between women who had received information on smoking risks and those who reported never having received information.

Breeding of White-tailed Tropicbirds (Phaethon lepturus) in the western South Atlantic.

Basic information on natural history is crucial for assessing the viability of populations, but is often lacking for many species of conservation concern. One such species is the White-tailed Tropicbird, Phaethon lepturus (Mathews, 1915). Here, we address this shortfall by providing detailed information on reproductive biology, distribution and threats on the Fernando de Noronha archipelago, Brazil - the largest colony of P. lepturus in the South Atlantic. We assessed reproduction from August 2011 to January 2012 by monitoring tropicbird nests and their contents. A population estimate was obtained through a combination of active searches for nests and by census at sea between 2010 and 2012. Breeding success was calculated by traditional methods. The growth curve of chicks and life table were also calculated. Additional information on nest and mate fidelity and on age of breeding birds was obtained from the banded birds. Our results indicate that the unusual nest form (limestone pinnacles) and predation by crabs may be responsible for the observed patterns of hatching and fledging success. Although the Fernando de Noronha population appears to be stable (at between 100-300 birds), a long term monitoring program would be desirable to assess fluctuations in this globally important population. Conservation strategies should focus on controlling predation by land crabs and tegu lizards.

5 alpha-Reductase activity in the genital skin of hirsute women.

A simplified, rapid, and highly reproducible technique is described for measuring 5 alpha-reductase activity (5 alpha RA) in small skin biopsies. Human genital skin was obtained from 23 nonhirsute and 20 hirsute premenopausal women (HW) and 5 normal men. Skin samples were minced at 4 C and incubated with RPMI-1640 in the presence of 95% O2-5% CO2 and 4.15 nmol [14C]testosterone ([14C]T) for 2 h at 37 C. Steroids were extracted with diethyl ether and separated by Celite and paper chromatography. Radioactivity in specific eluates was quantified, and the mass of each steroid was measured by RIA. The separate formation of 5 alpha-androstane-17 beta-ol-3-one (DHT), 5 alpha-androstane-3 alpha, 17B diol (3 alpha diol), androstenedione, and androsterone from [14C]T was measured. In separate experiments it was demonstrated that an incubation time of 2 h was optimum and that the addition of cofactors was unnecessary. Radiochemical purity was confirmed after chromatography. The mean +/- SE conversion ratio (CR) of T to DHT (in 2 h) in HW was higher than that in normal women (16.80 +/- 1.62% vs. 4.48 +/- 0.36%; P less than 0.01). In men, the CR of T to DHT averaged 31.60 +/- 3.96%. Individual values for the CR of T to DHT in HW and normal women did not overlap. The CR of T to 3 alpha diol was significantly higher in HW (9.66 +/- 0.86%) and men (15.98 +/- 2.0%) compared to that in normal women (2.96 +/- 0.32%; P less than 0.05). The CR of T to androstenedione was significantly greater in HW and men (6.18 +/- 0.42 and 7.28 +/- 1.92%) compared to that in normal women (2.64 +/- 0.64%; P less than 0.05). The CR of T to androsterone was very low and was similar in the three groups. The production of DHT in HW (4.50 +/- 1.0 pmol/mg X 2 h) was significantly greater than that in normal women (0.48 +/- 0.08; P less than 0.01) and was similar to the production in men (6.18 +/- 1.94 pmol/mg X 2 h). There was a significant correlation between the CR of T to DHT and DHT production, and the CR of T to 3 alpha diol and 3 alpha diol production as well as between the CRs of T to DHT and T to 3 alpha diol. These data suggest that measurements of DHT formation are best suited for the assessment of 5 alpha RA and that the measurement of 5 alpha RA in vitro from small skin biopsies is suitable for the clinical evaluation of hirsutism.

Production of 3 alpha-androstanediol glucuronide in human genital skin.

3 alpha-Androstanediol glucuronide (3 alpha diol-G) is produced extrasplanchnically and is a good clinical marker of androgen action in peripheral tissues. However, the direct formation of androgen glucuronides in peripheral sites such as skin has not been determined in man. Genital skin from 21 premenopausal women and 8 men and foreskin from 6 neonates were incubated with either [14C]testosterone [14C]dihydrotestosterone (DHT) to determine the production of DHT glucuronide and 3 alpha diol-G in skin. After hydrolysis of incubation medium with glucuronidase, followed by extraction and sequential chromatography, constant 3H to 14C ratios of 3 alpha diol confirmed the production of DHT glucuronide and 3 alpha diol-g. The conversion of DHT to 3 alpha diol-G was higher than the conversion from testosterone (P less than 0.05), and conversion was higher in men than in women. These data provide evidence for the direct formation of C19 steroid glucuronides by human skin.

Methods used to improve gamete efficiency.

Male factor infertility accounts for a significant percentage of problems in infertile couples. With clinical utilization of the technologies for selection of good-quality spermatozoa from the ejaculate, our ability to successfully treat the severely affected male factor couple has improved. However, it must be remembered that even with current technologies, fertilization success is reduced in these patients but remains above a 50% level. Other factors that can be used in the future to improve on these statistics are being investigated in regard to the in vitro environment for gametes, that is, the type of culture medium, the methods of coincubation of the sperm and egg, and other methods of enhancement of sperm fertilizing potential. However, methods of sperm preparation will achieve improvement in a percentage of these males treated, and can be used to improve fertilization and pregnancy success. It is important to understand the limitations of the zona-free hamster test, but it is also important to use that test as a screening method for sperm handling. By utilizing the SPA to select out the optimal method of sperm preparation, the fertilization and pregnancy outcome can be improved. Overall, the live-birth rate in male factor infertile couples is lower than non-male-factor couples treated by IVF and GIFT. Until more is known about basic spermatozoal function, and the ability to improve that function in affected males, the live-birth rate should not be expected to change substantially.