Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies

Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test. Methods cfDNA testing was performed in 515 twin pregnancies at 10–28 weeks' gestation. The failure rate of the test to provide results was compared with that in 1847 singleton pregnancies, and logistic regression analysis was used to determine which factors among maternal and pregnancy characteristics were significant predictors of test failure. Results Failure rate of the cfDNA test at first sampling was 1.7% in singletons and 5.6% in twins. Of those with a test result, the median fetal fraction in twins was 8.7% (range, 4.1–30.0%), which was lower than that in singletons (11.7% (range, 4.0–38.9%)). Multivariable regression analysis demonstrated that twin pregnancy, higher maternal weight and conception by in‐vitro fertilization provided significant independent prediction of test failure. Follow‐up was available in 351 (68.2%) of the twin pregnancies and comprised 334 with euploid fetuses, 12 discordant for trisomy 21 and five discordant for trisomy 18. In all 323 euploid cases with a result, the risk score for each trisomy was < 1:10 000. In 11 of the 12 cases with trisomy 21 and in the five with trisomy 18, the cfDNA test gave a high‐risk result, but in one case of trisomy 21, the score was < 1:10 000. Conclusion In twin pregnancies screening by cfDNA testing is feasible, but the failure rate is higher and detection rate may be lower than in singletons

The impact of corporate philanthropy on reputation for corporate social performance

This study seeks to examine the mechanisms by which a corporation’s use of philanthropy affects its reputation for corporate social performance (CSP), which the authors conceive of as consisting of two dimensions: CSP awareness and CSP perception. Using signal detection theory (SDT), the authors model signal amplitude (the amount contributed), dispersion (number of areas supported), and consistency (presence of a corporate foundation) on CSP awareness and perception. Overall, this study finds that characteristics of firms' portfolio of philanthropic activities are a greater predictor of CSP awareness than of CSP perception. Awareness increases with signal amplitude, dispersion, and consistency. CSP perception is driven by awareness and corporate reputation. The authors’ contention that corporate philanthropy is a complex variable is upheld, as we find that CSP signal characteristics influence CSP awareness and perception independently and asymmetrically. The authors conclude by proposing avenues for future research

Carbon Fiber Insoles Enhance Perception of Performance Despite Variable Objective Outcomes: Specific to the Moderately Active Individual

International Journal of Exercise Science 16(4): 885-897, 2023. Carbon fiber insoles (CFIs) may benefit performance in elite athletes, however, their use in moderately active individuals has been adopted without evidence supporting such enhancements in this population. Fifteen male subjects performed vertical jump (VJ) and repeat treadmill sprint tests before and after a VO2peak while wearing 1) CFIs and 2) control insoles (CON). Subjects completed a subjective survey regarding their perceived performance abilities for both conditions. There were no significant differences between CFIs and CON in VJ height, sprint distance, heart rate following sprints; and rate of oxygen consumption, perceived fatigue, and perceived exertion at 85% of maximal speed (p \u3e 0.05) during the VO2peak. At maximal speed, although there was no difference between conditions in peak rate of oxygen consumption (95%CI [-4.85, 0.21]) and respiratory exchange ratio (95%CI [-0.01, 0.03]), CFIs resulted in a reduced level of perceived fatigue (95%CI [-1, 0]) and perceived exertion (95%CI [-2, 0]) compared to CON. Subjects subjectively reported increased feelings of “propulsion or explosiveness” (p = 0.026) and being able to “perform better while jumping” (p = 0.029) while wearing CFIs. Heightened perceptions of performance enhancements when wearing CFIs indicate, in the moderately active, perceptual benefits could be more influential for determining CFI use

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos.

STUDY QUESTION How to select and prioritize embryos during PGD following genome-wide haplotyping? SUMMARY ANSWER In addition to genetic disease-specific information, the embryo selected for transfer is based on ranking criteria including the existence of mitotic and/or meiotic aneuploidies, but not carriership of mutations causing recessive disorders. WHAT IS KNOWN ALREADY Embryo selection for monogenic diseases has been mainly performed using targeted disease-specific assays. Recently, these targeted approaches are being complemented by generic genome-wide genetic analysis methods such as karyomapping or haplarithmisis, which are based on genomic haplotype reconstruction of cell(s) biopsied from embryos. This provides not only information about the inheritance of Mendelian disease alleles but also about numerical and structural chromosome anomalies and haplotypes genome-wide. Reflections on how to use this information in the diagnostic laboratory are lacking. STUDY DESIGN, SIZE, DURATION We present the results of the first 101 PGD cycles (373 embryos) using haplarithmisis, performed in the Centre for Human Genetics, UZ Leuven. The questions raised were addressed by a multidisciplinary team of clinical geneticist, fertility specialists and ethicists. PARTICIPANTS/MATERIALS, SETTING, METHODS Sixty-three couples enrolled in the genome-wide haplotyping-based PGD program. Families presented with either inherited genetic variants causing known disorders and/or chromosomal rearrangements that could lead to unbalanced translocations in the offspring. MAIN RESULTS AND THE ROLE OF CHANCE Embryos were selected based on the absence or presence of the disease allele, a trisomy or other chromosomal abnormality leading to known developmental disorders. In addition, morphologically normal Day 5 embryos were prioritized for transfer based on the presence of other chromosomal imbalances and/or carrier information. LIMITATIONS, REASONS FOR CAUTION Some of the choices made and principles put forward are specific for cleavage-stage-based genetic testing. The proposed guidelines are subject to continuous update based on the accumulating knowledge from the implementation of genome-wide methods for PGD in many different centers world-wide as well as the results of ongoing scientific research. WIDER IMPLICATIONS OF THE FINDINGS Our embryo selection principles have a profound impact on the organization of PGD operations and on the information that is transferred among the genetic unit, the fertility clinic and the patients. These principles are also important for the organization of pre- and post-counseling and influence the interpretation and reporting of preimplantation genotyping results. As novel genome-wide approaches for embryo selection are revolutionizing the field of reproductive genetics, national and international discussions to set general guidelines are warranted. STUDY FUNDING/COMPETING INTEREST(S) The European Union's Research and Innovation funding programs FP7-PEOPLE-2012-IAPP SARM: 324509 and Horizon 2020 WIDENLIFE: 692065 to J.R.V., T.V., E.D. and M.Z.E. J.R.V., T.V. and M.Z.E. have patents ZL910050-PCT/EP2011/060211-WO/2011/157846 (‘Methods for haplotyping single cells’) with royalties paid and ZL913096-PCT/EP2014/068315-WO/2015/028576 (‘Haplotyping and copy-number typing using polymorphic variant allelic frequencies’) with royalties paid, licensed to Cartagenia (Agilent technologies). J.R.V. also has a patent ZL91 2076-PCT/EP20 one 3/070858 (‘High throughout genotyping by sequencing’) with royalties paid

Plerixafor prescription modalities in autologous haematopoietic stem cell mobilization in Belgium

Objectives: The efficacy and safety of plerixafor, an antagonist of the CXCR4 receptor, in combination with G-CSF has been demonstrated in patients suffering from Iymphoma and multiple myeloma (MM) eligible for autologous haematopoietic stem cell collection. However, different reimbursement criteria have been applied in different countries to select patients eligible for treatment with plerixafor. The objective of this observational study was to describe the plerixafor prescription modalities in daily practice in Belgium. Methods: This open-label, prospective, observational study was conducted in 11 Belgian centres in 114 patients with lymphoma (Hodgkin's and non-Hodgkin's lymphoma) or MM who were treated with plerixafor according to the SmPC between April 2011 and October 2012. Patients included in another clinical trial with plerixafor were excluded from the study. Results: The use of plerixafor in patients with MM or lymphoma was effective, with a success rate (defined as a total yield > 2 x 10(6) CD34+ cells/kg) of 77%, and well tolerated (one SAE reported). Optimal collection (defined as a total yield >4 x 10(6) CD34+ cells/kg) was obtained for 43% of the study population (31% in lymphoma patients, compared to 61% in patients with MM). The use of plerixafor was in line with the SmPC and the Belgian reimbursement criteria for all patients. Conclusion: This study is showing that the use of plerixafor according to Belgian reimbursement criteria results in similar efficacy and safety as in other centres and countries worldwide

Survival of a long-lived single island endemic, the Raso lark Alauda razae, in relation to age, fluctuating population and rainfall

Abstract: Estimating and understanding variation in survival rates is crucial for the management of threatened species, especially those with limited population sizes and/or restricted ranges. Using a capture-resighting dataset covering 2004–2017, we estimate adult survival in the Raso lark Alauda razae, a Critically Endangered single-island Cape Verdean endemic, whose population varied 25-fold during the study. Average annual adult survival was similar for males (0.813 ± 0.011) and females (0.826 ± 0.011) over the period. These values are high for a temperate passerine but not unusual for an insular tropical species like the lark. The oldest bird was recorded 13 years after first ringing. There was strong evidence that survival varied among years (between 0.57 and 0.95), being generally higher in wetter years. Survival, especially of males, was lower when the population was large, but only in drier years. Survival declined with age but there was no evidence that this decline was other than linear. High survival, even in the face of dry conditions, at least when the population is depressed, has probably contributed to the persistence of the species on its 7 km2 island home over several centuries

Men and infertility in The Gambia : limited biomedical knowledge and awareness discourage male involvement and exacerbate gender-based impacts of infertility

Introduction Infertility in Sub-Saharan Africa constitutes an important social and public health problem. Yet, there is a paucity of research on the experiences of men living with infertility, especially in West Africa. This study explored men’s aetiological knowledge, views and experiences of infertility in the West Coast region of The Gambia, West Africa. Methodology An explorative qualitative study was conducted among men living in the rural and urban communities of the West Coast region of The Gambia using in-depth interviews. Data collection and analysis were performed concurrently, and thematic data analysis was an iterative process carried out using NVivo 11 Analysis Software. Results Gambian men had generally poor knowledge of infertility, allocating it to God, spiritual powers and bodily (biomedical) factors. While societal norms meant that infertility was generally attributed to women, some men allocated male-factor infertility to poor sperm quality and impotence. Infertility threatened participants’ sense of masculinity and resulted in psychosocial distress, including stigma, feelings of isolation, and low self-esteem. Conclusion Normative gendered frameworks of infertility result in high levels of female responsibilisation in the Gambian context. Yet men diagnosed with infertility experience significant, often unrecognized, psychological and social distress. We therefore call for increased attention to male-factor infertility, and the promotion of male engagement with infertility-care and services, both of which are essential for successfully addressing infertility and it’s psychosocial consequences in The Gambia

Intentional replantation for the management of maxillary sinusitis

Aim. To present a case that emphasizes the importance of the use of intentional replantation as a technique to successfully treat a periapical lesion and an odontogenic maxillary sinusitis through the alveolus at the same time. Summary. This case report presents a patient with odontogenic maxillary sinusitis secondary to periapical disease of a maxillary molar that had previously received root canal treatment. The molar was extracted, with drainage and rinsing of the maxillary sinus. The apices were resected extra-orally, and the retrograde cavity was prepared with ultrasound and retrograde filling using silver amalgam. The tooth was then replanted. After 2 years, the patient was asymptomatic, periapical radiography showed no evidence of root resorption and computed tomography scanning demonstrated the resolution of maxillary sinusitis

TRASER - Total Reflection Amplification of Spontaneous Emission of Radiation

Background and Objective: Light and lasers in medical therapy have made dramatic strides since their invention five decades ago. However, the manufacture of lasers can be complex and expensive which often makes treatments limited and costly. Further, no single laser will provide the correct parameters to treat all things. Hence, laser specialists often need multiple devices to practice their specialty. A new concept is described herein that has the potential to replace many lasers and light sources with a single ‘tunable ’ device. Study Design/Material and Methods: This device amplifies spontaneous emission of radiation by capturing and retaining photons through total internal reflection, hence the acronym Total Reflection Amplification of Spontaneous Emission of Radiation, or TRASER. Results: Specific peaks of light can be produced in a reproducible manner with high peak powers of variable pulse durations, a large spot size, and high repetition rate. Conclusion: Considering the characteristics and parameters of Traser technology, it is possible that this one device woul