Patient interest in and clinician reservations on polygenic embryo screening: a qualitative study of stakeholder perspectives.

PURPOSE: We explored and compared perspectives of reproductive endocrinology and infertility specialists (REIs) and in vitro fertilization (IVF) patients regarding polygenic embryo screening (PES), a new type of preimplantation screening that estimates the genetic chances of developing polygenic conditions and traits in the future. METHODS: Qualitative thematic analysis of semi-structured interviews with US-based REIs and IVF patients. RESULTS: Clinicians and patients often held favorable views of screening embryos for physical or psychiatric conditions, though clinicians tended to temper their positive attitudes with specific caveats. Clinicians also expressed negative views about screening embryos for traits more frequently than patients, who generally held more positive views. Most clinicians were either unwilling to discuss or offer PES to patients or were willing to do so only under certain circumstances, while many patients expressed interest in PES. Both stakeholder groups envisioned multiple potential benefits or uses of PES and raised multiple potential, interrelated concerns about PES. CONCLUSION: A gap exists between clinician and patient attitudes toward PES; clinicians generally maintained reservations about such screening and patients indicated interest in it. Clinicians and patients sometimes imagined using PES to prepare for the birth of a predisposed or "affected" individual-a rationale that is often associated with prenatal testing. Many clinicians and patients held different attitudes depending on what is specifically screened, despite the sometimes blurry distinction between conditions and traits. Considerations raised by clinicians and patients may help guide professional societies in developing guidelines to navigate the uncertain terrain of PES.

Vision-Related Quality of Life after Cataract Surgery in West Africa.

PURPOSE: To study vision related quality of life (VRQoL) before and after a massive cataract campaign in West Africa and the relationship with visual indicators. METHODS: All the patients who received cataract surgery in Burkina Faso during a blindness prevention campaign were examined. VRQoL was assessed using a modified version of the WHO/PBD VF20. The questionnaire was changed to reflect the socioeconomic and local culture. Patients were interviewed by local interviewers before and three months after surgery. A quality of life related to vision index (QoL-RVI) was calculated. RESULTS: A total of 305 patients underwent cataract extraction in at least one eye, of these, a total of 196 (64%) completed the study. Mean age was 61.97 ± 14.39 years. The majority of eyes had poor visual acuity (VA<20/200, log MAR: 1.0) preoperatively (88.70%) with a mean VA of logMAR 2.17 ± 0.70 (20/2000) which improved to 0.86 ± 0.64 LogMAR (20/150) 3 months after cataract surgery. QoL-RVI improved postoperatively in 90.2% of patients, did not change in 3.1% and was worse in 6.7%. Statistically significant differences were detected (Wilcoxon test p <0.05) for all items tested before and after surgeries. Correlations for the patients after operations showed that there was a statistically significant relation between a global estimated QoL-RVI and the VA previous to the surgery (-0.196 p=0.014), regarding the same index and the VA after the procedures (-0,35 p=0,00018). CONCLUSION: Cataract surgery increases the quality of life of patients living in a developing country such as Burkina Faso and the improvement correlates with the recovery of the visual acuity.

OBJECTIF: Étudier la qualité de vie liée à la vision (VRQoL) avant et après une campagne massive contre la cataracte en Afrique de l'Ouest et la relation avec les indicateurs visuels. MÉTHODES: Tous les patients qui ont été opérés de la cataracte au Burkina Faso pendant une campagne de prévention de la cécité ont été examinés. La VRQoL a été évaluée en utilisant une version modifiée du VF20 de l'OMS/PBD. Le questionnaire a été modifié pour refléter la culture socio-économique et locale. Les patients ont été interrogés par des enquêteurs locaux avant et trois mois après la chirurgie. Un indice de qualité de vie liée à la vision (QoL-RVI) a été calculé. RÉSULTATS: Un total de 305 patients ont subi une extraction de la cataracte dans au moins un œil, parmi ceux-ci, un total de 196 (64%) ont terminé l'étude. L'âge moyen était de 61,97 ± 14,39 ans. La majorité des yeux avaient une mauvaise acuité visuelle (AV<20/200, logMAR : 1,0) en préopératoire (88,70%) avec une VA moyenne de logMAR 2,17 ± 0,70 (20/2000) qui s'est améliorée à 0,86±0,64 LogMAR (20/150) 3 mois après la chirurgie de la cataracte. La QoL-RVI s'est améliorée après l'opération chez 90,2% des patients, n'a pas changé chez 3,1% et s'est aggravée chez 6,7%. Des différences statistiquement significatives ont été détectées (test de Wilcoxon p <0,05) pour tous les éléments testés avant et après les opérations. Les corrélations pour les patients après les opérations ont montré qu'il y avait une relation statistiquement significative entre une estimation globale de la QoL-RVI et l'AV avant l'opération (-0,196 p=0,014), concernant le même indice et l'AV après les procédures (-0,35 p=0,00018). CONCLUSION: La chirurgie de la cataracte augmente la qualité de vie des patients vivant dans un pays en voie de développement comme le Burkina Faso et cette amélioration est corrélée avec la récupération de l'acuité visuelle. Mots clés: Qualité de Vie, Cataracte, Cécité, Afrique de l'Ouest.

Polygenic embryo screening: four clinical considerations warrant further attention.

Recent advances in developing polygenic scores have made it possible to screen embryos for common, complex conditions and traits. Polygenic embryo screening (PES) is currently offered commercially, and though there has been much recent media and academic coverage, reproductive specialists' points of view have not yet been prominent in these discussions. We convened a roundtable of multidisciplinary experts, including reproductive specialists to discuss PES and its implications. In this Opinion, we describe four clinically relevant issues associated with the use of PES that have not yet been discussed in the literature and warrant consideration.

An introduction to the sources, fate, occurrence and effects of endocrine disrupting chemicals released into the environment.

Many classes of compounds are known or suspected to disrupt the endocrine system of vertebrate and invertebrate organisms. This review of the sources and fate of selected endocrine disrupting chemicals (EDCs) in the environment includes classes of compounds that are "legacy" contaminants, as well as contaminants of emerging concern. EDCs included for discussion are organochlorine compounds, halogenated aromatic hydrocarbons, brominated flame retardants, per- and polyfluoroalkyl substances, alkylphenols, phthalates, bisphenol A and analogues, pharmaceuticals, drugs of abuse and steroid hormones, personal care products, and organotins. An exhaustive survey of the fate of these contaminants in all environmental media (e.g., air, water, soil, biota, foods and beverages) is beyond the scope of this review, so the priority is to highlight the fate of EDCs in environmental media for which there is a clear link between exposure and endocrine effects in humans or in biota from other taxa. Where appropriate, linkages are also made between the fate of EDCs and regulatory limits such as environmental quality guidelines for water and sediments and total daily intake values for humans.

Methods for the analysis of endocrine disrupting chemicals in selected environmental matrixes.

Endocrine disrupting chemicals (EDCs) are heterogenous in structure, chemical and physical properties, and their capacity to partition into various environmental matrixes. In many cases, these chemicals can disrupt the endocrine systems of vertebrate and invertebrate organisms when present at very low concentrations. Therefore, sensitive and varied analytical methods are required to detect these compounds in the environment. This review summarizes the analytical methods and instruments that are most used to monitor for EDCs in selected environmental matrixes. Only those matrixes for which there is a clear link between exposures and endocrine effects are included in this review. Also discussed are emerging methods for sample preparation and advanced analytical instruments that provide greater selectivity and sensitivity.

Entropy, purity and optical hysteresis in markovian optical modes.

We describe the synthesis of optical modes whose axial structure follows a random tandem array of Bessel beams of integer order. The array follows fluctuations of Markov-chain type and the amplitude values for each beam are linked to a sequence of random vectors. As a prototype, we describe the synthesis of optical fields for Markov-chain type Ehrenfest. This process models the thermodynamic equilibrium and then it can be related to the evolution and stability of optical systems, in this way, it offers a similitude with partially coherent processes where the coherence degree is now distributed between all the compounds of the resulting random vector. The matrix representation for the stochastic process allows incorporating entropy properties and the calculus of the purity for the optical field. This constitutes the basis to describe the interference between markovian modes. When the set of markovian modes type Ehrenfest reaches a stable configuration they become indistinguishability non-conservative optical field having associated hysteresis features. Computer simulations are presented.

Stability of focusing regions and its vortex-solitonic properties.

Focusing regions, also known as caustic regions, are the singular solutions to the amplitude function of optical fields. Focusing regions are generated by the envelope curve of a set of critical points, which can be of attractor or repulsor type. The nature of the critical point depends on the refractive index. An important property of the critical points is that they present charge-like features. When a focusing region is generated in media with a random refractive index, current-like effects appear, and the evolution of the focusing regions follows a diffusion behavior. The morphology of the focusing regions may generate vortices or "eternal solutions" of solitonic type in a nonlinear medium. Herein, the condition under which these effects occur is analyzed and experimentally corroborated.

Invariant correlated optical fields driven by multiplicative noise.

We describe the evolution of a linear transmittance when it is perturbed with multiplicative noise; the evolution is approximated through an ensemble of random transmittances that are used to generate diffraction fields. The randomness induces a competition mechanism between noise and transmittance, and it is identified through the self-correlation function. We show that the geometry of the self-correlation function is a single peak preserved in the diffraction field that can be matched with localization-like effects. To corroborate the theoretical predictions, we perform an experiment using a linear grating where the noise is approximated by a stochastic Markov chain. Experimental results are shown.

Endoparasitic diversity from the Southern Ocean: is it really low in Antarctic fish?

The biodiversity and composition of endoparasites in fish obtained from the Antarctic and subantarctic zones are compared in this study. Several fish were collected in the summer from Antarctica (King George Island) and the Southern Pacific coast (Strait of Magellan and Almirante Montt Gulf). This database was complemented with published information on fish endoparasite communities from both zones, with specimens of fish sample size n ≥ 15. Thus, 31 fish species were analysed in this study, which altogether had 79 parasite species. Diversity indices were calculated for the parasite community of each fish species. Then they were compared between the Antarctic and subantarctic zones. Parasite species composition and host specificity (as the number of fish species used by a parasite species) were also analysed and compared between zones. The diversity indices and the abundance of parasites were significantly higher in the Antarctic than the subantarctic fish. Few parasite species (7.6%) were shared between fish from both zones, showing significant differences in parasite composition. Antarctic parasites were less host-specific than subantarctic parasites, which allowed the coexistence of several parasite species in the fish. The high parasite abundance in Antarctic fish could trigger sympatric speciation in certain parasitic lineages or the exploitation of new resources, resulting in more parasite species than those in subantarctic environments. The high abundance of Antarctic parasites implies different methods and rates of transmission than those of subantarctic parasites. In addition, more alternative fish hosts were used by the Antarctic than subantarctic parasites. This altogether indicates that host-parasite interaction dynamics significantly differ between the Antarctic and subantarctic systems.

Geographic and ontogenetic variations in parasite communities of intertidal fish species from the south-eastern Pacific coast.

Parasite composition can be affected by physiological and ecological changes during host ontogeny. Intertidal fish do not travel long distances and live in the same area throughout their lifetimes, meaning that parasite communities can differ across geographic ranges. The objective of this study was to analyse the parasite communities of three fish species (Hypsoblennius sordidus, Helcogrammoides cunninghami and Scartichthys viridis) collected from the Chilean coast. The composition of parasite species was compared among host ontogenetic stages (larvae, juveniles and mature fish) and geographic areas. A total of 184 larval, 252 juveniles and 217 mature individuals were collected in the northern area (c. 24°S), and 186 larval, 192 juveniles and 112 mature individuals from the central area (c. 33°S). Ectoparasites were most prevalent in fish from the central area, whereas endoparasites were most prevalent in the northern area. The parasite species richness varied significantly between geographical areas for H. sordidus and H. cunninghami, but the parasite composition varied significantly between geographical areas for all fish species analysed. Therefore, the geographical area was the most important factor determining the parasite composition of intertidal fish species. The absence of endoparasites in fish larvae and the increased infestation in juvenile and mature fish may be explained by the shift in habitat from the water column to intertidal pools where prey abundance and availability are higher. On the other hand, hydrographic barriers affecting prey distributions may also offer an explanation as to the differences in parasite composition.

Improved ethical guidance for the return of results from psychiatric genomics research.

There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important and medically actionable genomic findings (for example, pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results. Here, we review the return of results debate in genomics research and propose that, as for genomic studies of other medical conditions, psychiatric genomics researchers should offer findings that meet the minimum criteria stated above. Additionally, if resources allow, psychiatry researchers could consider offering to return pre-specified 'clinically valuable' findings even if not medically actionable-for instance, findings that help corroborate a psychiatric diagnosis, and findings that indicate important health risks. Similarly, we propose offering 'likely clinically valuable' findings, specifically, variants of uncertain significance potentially related to a participant's symptoms. The goal of this Perspective is to initiate a discussion that can help identify optimal ways of managing the return of results from psychiatric genomics research.

Comparison of the parasite community of two notothens, Notothenia rossii and N. coriiceps (Pisces: Nototheniidae), from King George Island, Antarctica.

In this study, we analysed and compared the whole parasite community from the fish Notothenia rossii and Notothenia coriiceps collected from Fildes Bay at King George Island, Antarctica, during January-February 2017 in a field campaign supported by the Chilean Antarctic Institute. The fish samples collected were 45 specimens of N. rossii and 22 of N. coriiceps, with total lengths averaging 29.7 ± 5.3 cm and 32.5 ± 3.2 cm, respectively. Fish were dissected to collect their internal and external parasites. All the fish were parasitized; 13 taxa were found in N. rossii and 12 taxa in N. coriiceps. Acanthocephalans, mainly Metacanthocephalus johnstoni and Aspersentis megarhynchus, were the most abundant and prevalent parasites in both fish species. The abundance and richness of the parasite infracommunity increased with the host body length only in N. rossii. Twelve parasitic taxa were shared by both notothen species. Abundance and prevalence of parasitic taxa, as well as the average richness and abundance of the parasite infracommunities were mostly similar between the two fish species. Parasite compositions of N. coriiceps reported in published studies from King George Island were relatively comparable to our sample. We concluded that the two congeneric and sympatric fish species had highly similar parasite communities, which indicates that they use resources in a similar way, thus allowing them to become parasitized with the same parasitic species and in the same abundances. All parasites recorded in this study have been found in several other fish species; therefore, parasites from notothens are considered to be generalists.

Chronic deltoid ligament insufficiency repair with Internal Brace™ augmentation.

BACKGROUND: Patients with chronic deltoid ligament insufficiency (CDLI) present a challenging situation. Although numerous procedures have been described, optimal treatment is still a matter of debate. While the treatment armamentarium ranges from simple ligament repair to complex reconstructions with or without realignment osteotomies, direct repair augmented with an Internal Brace™ device appears to be an attractive intermediate option. We investigated functional outcomes and complications in patients with CDLI operated on using Internal Brace™ augmentation. METHODS: A prospective study was conducted. Patients were included if they presented medial ankle pain and/or giving way, exhibited asymmetric flexible hindfoot valgus, failed conservative treatment, and had a positive MRI evaluated by an independent radiologist. Patients with stage IV flatfoot deformity, neuropathy and/or inflammatory arthritis were excluded. CDLI was confirmed intraoperatively with the arthroscopic drive-through sign. Patients were evaluated preoperatively and postoperatively using FAAM, SF-36 and grade of satisfaction. Paired t-tests were used to assess FAAM and SF-36 scores variation. RESULTS: Thirteen patients met inclusion criteria. No patient was lost to follow-up, with a mean follow-up time of 13.5 months (range 6-21). Preoperative FAAM and SF-36 scores improved from 58.7 to 75.3 and from 60.2 to 84.4 postoperatively, respectively (p<.01). Two implant failures were observed, with no apparent compromise of construct stability. No patient was re-operated. CONCLUSIONS: Our results suggest that deltoid ligament repair with Internal Brace™ augmentation in patients with CDLI is a reliable option with good functional outcomes and high satisfaction grade in short term follow-up. LEVEL OF EVIDENCE: Level IV.

Modified SureSelectQXT Target Enrichment Protocol for Illumina Multiplexed Sequencing of FFPE Samples.

BACKGROUND: Personalised medicine is nowadays a major objective in oncology. Molecular characterization of tumours through NGS offers the possibility to find possible therapeutic targets in a time- and cost-effective way. However, the low quality and complexity of FFPE DNA samples bring a series of disadvantages for massive parallel sequencing techniques compared to high-quality DNA samples (from blood cells, cell cultures, etc.). RESULTS: We performed several experiments to understand the behaviour of FFPE DNA samples during the construction of SureSelectQXT libraries. First, we designed a quality checkpoint for FFPE DNA samples based on the quantification of their amplification capability (qcPCR). We observed that FFPE DNA samples can be classified according to DIN value and qcPCR concentration into unusable, or low-quality (LQ) and good-quality (GQ) DNA. For GQ samples, we increased the amount of input DNA to 150 ng and the digestion time to 30 min, whereas for LQ samples, we used 50 ng of DNA as input but we decreased the digestion time to 1 min. In all cases, we increased the cycles of the pre-hyb PCR to 10 but decreased the cycles of the post-hyb PCR to 8. In addition, we confirmed that using half of the volume of reagents can be beneficial. Finally, in order to obtain better results, we designed a decision flow-chart to achieve a seeding concentration of 12-14 pM for MiSeq Reagent Kit v2. CONCLUSIONS: Our experiments allowed us to unveil the behaviour of low-quality FFPE DNA samples during the construction of SureSelectQXT libraries. Sequencing results showed that, using our modified SureSelectQXT protocol, the final percentage of usable reads for low-quality samples was increased more than three times allowing to reach median depth/million reads values of 76.35. This value is equivalent to ~ 0.9 and ~ 0.7 of the values obtained for good-quality FFPE and high-quality DNA respectively.

Anticipating hyperthermic efficiency of magnetic colloids using a semi-empirical model: a tool to help medical decisions.

Magnetic hyperthermia, a modality that uses radio frequency heating assisted with single-domain magnetic nanoparticles, is becoming established as a powerful oncological therapy. Much improvement in nanomaterials development, to enhance their heating efficiency by tuning the magnetic colloidal properties, has been achieved. However, methodological standardization to accurately and univocally determine the colloidal properties required to numerically reproduce a specific heating efficiency using analytical expressions still holds. Thus, anticipating the hyperthermic performances of magnetic colloids entails high complexity due to polydispersity, aggregation and dipolar interactions always present in real materials to a greater or lesser degree. Here, by numerically simulating the experimental results and using real biomedical aqueous colloids, we analyse and compare several approaches to reproduce experimental specific absorption rate values. Then, we show that the relaxation time, determined using a representative mean activation energy consistently derived from four independent experiments accurately reproduces experimental heating efficiencies. Moreover, the so-derived relaxation time can be used to extrapolate the heating performance of the magnetic nanoparticles to the other field conditions within the framework of the linear response theory. We thus present a practical tool that may truly aid the design of medical decisions.

Effects of a Dam Reservoir on the Distribution of Heavy Metals in Two Chilean Native Freshwater Fish Species.

In order to determine the effect of a dam on metal concentrations in riverine fish species, we studied fish inhabiting the influent (Cachapoal River) and effluent (Rapel River) of the Rapel Reservoir in central Chile. Heavy metals were quantified in gills, liver and muscle of the catfish Trichomycterus areolatus and the silverside Basilichthys microlepidotus. Also, the bioaccumulation index (BAI) was estimated by considering heavy metal concentrations obtained from water and sediment. Results showed the presence of Al, Cu, Fe, Mn, Pb and Zn in the fish organs. The analysis showed high metal concentrations in catfish inhabiting the influent compared to those collected in the effluent. These results indicate a possible filter effect of the dam for most of the metals identified in the fish organs, because metal concentrations decreased in the effluent. Finally, catfish exhibited a larger BAI for most metals analyzed.

Discrete perturbation theory for continuous soft-core potential fluids.

In this work, we present an equation of state for an interesting soft-core continuous potential [G. Franzese, J. Mol. Liq. 136, 267 (2007)] which has been successfully used to model the behavior of single component fluids that show some water-type anomalies. This equation has been obtained using discrete perturbation theory. It is an analytical expression given in terms of density, temperature, and the set of parameters that characterize the intermolecular interaction. Theoretical results for the vapor-liquid phase diagram and for supercritical pressures are compared with previous and new simulation data and a good agreement is found. This work also clarifies discrepancies between previous Monte Carlo and molecular dynamics simulation results for this potential.

Synergistic action of laccases from Trametes hirsuta Bm2 improves decolourization of indigo carmine.

UNLABELLED: Laccase isoenzymes (LacI,II,III) produced on wheat bran from Trametes hirsuta were partially purified through anion exchange chromatography. The three isoenzymes had the same MW of 65 kDa, and their main physico-chemical properties were studied. As single isoenzymes, laccases were unable to decolourize dye. Among several mediators evaluated, syringaldehyde was the most effective in dye decolourization (100%). A remarkable increase in dye decolourization was observed when LacI, II, III in mixture or crude enzyme were added to the reaction system, indicating that the laccases acted synergistically. SIGNIFICANCE AND IMPACT OF THE STUDY: Laccases have a great potential of application in bioremediation processes. White rot fungi produces several laccase isoenzymes and many of them have been purified and characterized. However, the additive or synergic action between laccase isoenzymes in dye decolourization has not yet been described. Such studies will help to better understand their action and to improve the process with isoenzymes mixtures. This study showed synergistic action between isoenzymes laccases produced by Trametes hirsuta Bm2 during decolourization of indigo carmine.

The life cycle of Prosorhynchoides carvajali (Trematoda: Bucephalidae) involving species of bivalve and fish hosts in the intertidal zone of central Chile.

We describe the life cycle of the bucephalid Prosorhynchoides carvajali from the intertidal rocky zone of central Chile. To elucidate the life cycle of this digenean, two mytilid bivalves, Semimytilus algosus and Perumytilus purpuratus, and ten intertidal fish species belonging to the families Blenniidae, Tripterygiidae, Labrisomidae, Kyphosidae and Gobiesocidae were analysed for natural infections. In addition, experimental infections of fish were undertaken and molecular analyses were performed of several developmental stages of the digeneans in various host species. Experimental infections of fish were made from infected mytilids to determine which fish species were suitable for the metacercarial stage of Prosorhynchoides. We also determined the abundance and prevalence of metacercariae in natural infections in fish and found that they were lower than in the experimental infections. A molecular analysis showed that sporocysts from S. algosus were identical to metacercariae from five fish species and P. carvajali adults. Sporocysts isolated from P. purpuratus were similar to metacercaria found in one fish species only (G. laevifrons) but were different from P. carvajali, with 1.9-2.0% genetic divergence. Therefore, the complete life cycle of P. carvajali consists of the mytilid species S. algosus as the first intermediate host, at least five intertidal fish species as second intermediate hosts (Scartichthys viridis, Auchenionchus microcirrhis, Hypsoblennius sordidus, Helcogrammoides chilensis and Gobiesox marmoratus), two carnivorous fish as definitive hosts (Auchenionchus microcirrhis and A. variolosus) and one occasional definitive host (Syciases sanguineus). This is the second description of a life cycle of a marine digenean from Chile.

[Orbital emphysema after Valsalva maneuver. Report of one case]. / Enfisema orbitario espontáneo tras la maniobra de Valsalva.

Orbital emphysema is a rare complication of orbital and facial trauma, involving the sinuses and occasionally the nasal cavity. Most cases occur as a result of trauma but spontaneous orbital emphysema has been reported. Clinical manifestations are often delayed until the upper airway pressure increases as when blowing or coughing. Along with the fracture, the rupture of the underlying mucosa is essential for emphysema to manifest. We report a 29-years-old male who consulted in the emergency room due to eyelid swelling after a Valsalva maneuver, a couple of hours after suffering a facial injury secondary to a fall. In the presence of eyelid emphysema, the patient underwent craniofacial imaging studies, confirming an ethmoidal lamina papyracea fracture.