Evaluation of Nanopore Sequencing on Polar Bodies for Routine Pre-Implantation Genetic Testing for Aneuploidy.

Background: Preimplantation genetic testing for aneuploidy (PGT-A) using polar body (PB) biopsy offers a clinical benefit by reducing the number of embryo transfers and miscarriage rates but is currently not cost-efficient. Nanopore sequencing technology opens possibilities by providing cost-efficient and fast sequencing results with uncomplicated sample preparation work flows.

Methods: In this comparative experimental study, 102 pooled PB samples (99 passing QC) from 20 patients were analyzed for aneuploidy using nanopore sequencing technology and compared with array comparative genomic hybridization (aCGH) results generated as part of the clinical routine.

Marking parties for marking written assessments: A spontaneous community of practice.

In programmes of assessment with both high and low-stakes assessments, the inclusion of open-ended long answer questions in the high-stakes examination can contribute to driving deeper learning among students. However, in larger institutions, this would generate a seemingly insurmountable marking workload. In this study, we use a focused ethnographic approach to explore how such a marking endeavour can be tackled efficiently and pragmatically.

Impact of maternally derived meiotic aneuploidies on early embryonic development in vitro.

Purpose: To assess early embryonic developmental potential of embryos affected by maternally inherited meiotic aneuploidies.

Methods: This observational, descriptive study includes 930 oocytes from 151 patients which were retrospectively analyzed by combining the morphological assessment with the genetic results from polar body diagnosis.

Results: Of 930 oocytes examined, 566 (60.

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond and in Breast and Ovarian Cancer Patients.

Consensus guidelines for hereditary breast and ovarian cancer include management recommendations for pathogenic/likely pathogenic (P/LP) variants in , , and other DNA damage repair (DDR) genes beyond or . We report on clinical management decisions across three academic medical centers resulting from P/LP findings in DDR genes in breast/ovarian cancer patients. Among 2184 patients, 156 (7.

Impact of Personal Alcohol Consumption on Aspects of Medical Student Alcohol-Related Competencies.

Aim: As part of the prevention and management of alcohol-related harms, health professionals need to be competent to assess the level of alcohol use in patients. In this study, we explored how medical students' own alcohol consumption impacts on their familiarity with alcohol brands, strengths and alcohol-related harms.

Methods: As part of a wider study investigating the concept of 'alcohol health literacy', this study combined an anonymous online survey, linked to an electronic alcohol 'brand' recognition game.

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

Purpose: To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non-/ genes.

Methods: Data were collected via in-person and paper/electronic surveys.

Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study.

The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching.

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Purpose: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk cancer genes (e.g.

Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization.

[This corrects the article DOI: 10.1371/journal.pone.

Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridization.

Meiotic errors during oocyte maturation are considered the major contributors to embryonic aneuploidy and failures in human IVF treatment. Various technologies have been developed to screen polar bodies, blastomeres and trophectoderm cells for chromosomal aberrations. Array-CGH analysis using bacterial artificial chromosome (BAC) arrays is widely applied for preimplantation genetic diagnosis (PGD) using single cells.

Parental interest in a genetic risk assessment test for autism spectrum disorders.

To better understand parental opinions regarding the diagnostic process and use of genetic testing to assess risk for autism spectrum disorders (ASDs) in the younger siblings of affected children in the Unites States, we conducted a survey of parents who had at least one child with ASD. A total of 162 surveys were completed anonymously using an Internet-based survey tool. The mean reported time to ASD diagnosis and age at diagnosis were 35.

Vertical ridge augmentation using a flexible heterologous cortical bone sheet: three-year follow-up.

Rehabilitation of the atrophic alveolar ridge is often problematic. Bone augmentation surgery may be hindered by a lack of surfaces from which blood vessels can spread during the initial stages of bone regeneration. If heterologous biomaterials are used as an alternative to autologous bone grafts, the standard delivery formats-blocks or granules-both have significant limitations.

Assessment of routine malaria diagnosis in the Venezuelan Amazon.

The quality of routine malaria diagnosis is a crucial topic of malaria control. The aim of this assessment was to monitor and evaluate the quality of routine malaria diagnosis in Amazonas (Venezuela) and to improve the quality control system. The traditional non-blinded quality control system was found to be overburdened with diagnostic samples.

prep1.2 and aldh1a2 participate to a positive loop required for branchial arches development in zebrafish.

Segmentation is a key step in embryonic development. Acting in all germ layers, it is responsible for the generation of antero-posterior asymmetries. Hox genes, with their diverse expression in individual segments, are fundamental players in the determination of different segmental fates.

Malaria entomological inoculation rates in gold mining areas of Southern Venezuela.

A longitudinal study of malaria vectors aiming to describe the intensity of transmission was carried out in five villages of Southern Venezuela between January 1999-April 2000. The man-biting, sporozoite and entomological inoculation rates (EIR) were calculated based on 121 all-night collections of anophelines landing on humans, CDC light traps and ultra violet up-draft traps. A total of 6,027 female mosquitoes representing seven species were collected.

Differential expression and regulation of olig genes in zebrafish.

The members of the Olig gene family encode for basic helix-loop-helix (bHLH) transcription factors involved in neural cell type specification. Three Olig genes (Olig1, Olig2 and Olig3) have been identified in all known vertebrate models and a fourth one in anamniotes (olig4). Here we have performed a global analysis of olig genes during zebrafish embryonic development and determined which signaling pathways control their induction and regionalization in the CNS.

Anopheles (Anopheles) neomaculipalpus: a new malaria vector in the Amazon basin?

Anopheles (Anopheles) neomaculipalpus Curry (Diptera: Culicidae) collected by human landing catches and light traps in southern Venezuela were assayed by enzyme-linked immunosorbent assay (ELISA) for detection of Plasmodium circumsporozoite (CS) protein. A total of 356 An. neomaculipalpus were collected, of which three (0.

Analysis of stray-light effects related to intraocular lens edge design.

Purpose: To study the behavior of light rays that impact the frosted, double-square edge of an intraocular lens (IOL).

Setting: Optical Phisiophatological Department, University of Florence, Florence, Italy.

Methods: The interaction of light rays as a function of the edge design of a frosted, sharp-edged IOL was evaluated using an experimental eye model and an advanced ray-tracing program.

Pharmacological profile of nociceptin/orphanin FQ receptors regulating 5-hydroxytryptamine release in the mouse neocortex.

A synaptosomal preparation was employed to pharmacologically characterize the role of presynaptic nociceptin/orphanin FQ (N/OFQ) receptors (NOP receptors) in the regulation of 5-hydroxytryptamine release in the Swiss mouse neocortex. In the present study, the NOP receptor ligands N/OFQ, Ac-RYYRWK-NH(2) and [Phe(1)psi(CH(2)-NH)Gly(2)]N/OFQ(1-13)-NH(2) inhibited the K(+)-induced [(3)H]-5-HT overflow with similar maximal effects ( approximately -35%) but different potencies (pEC(50) of 8.56, 8.

Computerized analysis of the effects of intraocular lens edge design on the quality of vision in pseudophakic patients.

Purpose: To study the distribution and intensity of reflected glare images from 3 intraocular lens (IOL) edge designs.

Setting: Eye Institute, University of Florence, Florence, Italy.

Methods: The interaction of light rays as a function of edge design was evaluated using an experimental eye model and an advanced ray-tracing program.

Randomized trial with itraconazole, ketoconazole and sulfadiazine in paracoccidioidomycosis.

Forty-two patients with active paracoccidioidomycosis were randomized to receive itraconazole (50-100 mg d(-1)), ketoconazole (200-400 mg d(-1)) or sulfadiazine (100-150 mg kg d(-1) up to 6 g d(-1)) for 4-6 months, followed by slow release sulfa until negativity of serological tests. All 14 patients in itraconazole and sulfadiazine groups and 13 in the ketoconazole group showed an adequate clinical response to the chemotherapy. One patient in the latter group showed treatment failure according to clinical and mycological criteria.