Glerupcrowell1027

Panel members highlighted the importance of informing decisions based upon individual circumstances-from gauging maturity/capability when selecting tests and interpreting outcomes, to accounting for specific clinical features (e.g. poor IOP control and/or suspected progressive VF loss) when making decisions about frequency of testing.

There is commonality of expert views in relation to implementing perimetry and interpreting test quality in the management of children with glaucoma. However, there remains a lack of agreement about defining progressive VF loss, and utilising perimetry over an individuals' lifetime, highlighting the need for further research.

There is commonality of expert views in relation to implementing perimetry and interpreting test quality in the management of children with glaucoma. However, there remains a lack of agreement about defining progressive VF loss, and utilising perimetry over an individuals' lifetime, highlighting the need for further research.

To report the prevalence of posterior vitreous attachment (PVA) in patients with idiopathic epiretinal membrane (iERM) and to determine associated preoperative predictive factors.

Retrospective observational case series of 408 eyes who underwent surgery for iERM without vitreomacular traction. The status of the posterior hyaloid was assessed intraoperatively. Predictive factors were analysed using univariate and multivariate logistic regression. We also evaluated the effect of PVA on the anatomical and functional outcomes of surgery.

Eighty-two (20.1%) eyes were found to have an undetached posterior hyaloid during vitrectomy. In multivariate analysis, axial length (AL) and lens status were strongly associated with the posterior vitreous status (p = 0.031 and p = 0.048). The odds of having a PVA decreased by a factor 0.81 per mm of AL (95% CI, 0.66-1.00). Phakic eyes had a 2.88-fold increased risk of exhibiting PVA compared to those with previous cataract extraction (95% CI, 1.10-7.52). The presence of PVA did not have any effect on postoperative anatomical and functional outcomes. In contrast, we found that eyes with shorter axial length, low preoperative visual acuity and disruption of the ellipsoid zone exhibited worse visual recovery (p = 0.006, p < 0.001 and p = 0.037).

PVA was observed in 20.1% of eyes undergoing vitrectomy for iERM. Shorter AL and phakic status were strong predictive factors of PVA in those eyes. However, the morphological features and the surgical prognosis of iERMs with PVA did not differ from those with posterior vitreous detachment.

PVA was observed in 20.1% of eyes undergoing vitrectomy for iERM. Shorter AL and phakic status were strong predictive factors of PVA in those eyes. However, the morphological features and the surgical prognosis of iERMs with PVA did not differ from those with posterior vitreous detachment.

Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening.

Cases positive for one or more subchromosomal CNV from genome-wide cfDNA screening and diagnostic outcomes were compiled. Diagnostic testing trends were analyzed, positive predictive values (PPVs) were calculated, and the type of chromosomal abnormalities ultimately confirmed by diagnostic testing were described.

CNVs were identified in 0.56% of screened specimens. Of the 490 cases screen-positive for one or more CNV, diagnostic outcomes were available for 244 cases (50%). The overall PPV among the cases with diagnostic outcomes was 74.2% (95% CI 68.1-79.5%) and 71.8% (95% CI 65.5-77.4%) for "fetal-only" events. Overall, isolated CNVs showed a lower PPV of 61.0% (95% CI 52.5-68.8%) compared to complex CNVs at 93.9% (95% CI 86.6-97.5%). Isolated deletions/duplications and unbalanced structural rearrangements were the most common diagnostic outcomes when isolated and complex CNVs were identified by cfDNA screening, respectively.

Genome-wide cfDNA screening identifies chromosomal abnormalities beyond the scope of traditional cfDNA screening, and the overall PPV associated with subchromosomal CNVs in cases with diagnostic outcomes was >70%.

70%.Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p  less then  0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.The cryopreservation of hematopoietic cells using dimethyl sulfoxide (DMSO) and serum is a common procedure used in transplantation. However, DMSO has clinical and biological side effects due to its toxicity, and serum introduces variation and safety risks. Inspired by natural antifreeze proteins, a novel class of ice-interactive cryoprotectants was developed. The corresponding DMSO-, protein-, and serum-free cryopreservation media candidates were screened through a series of biological assays using human cell lines, peripheral blood cells, and bone marrow cells. XT-Thrive-A and XT-Thrive-B were identified as lead candidates to rival cryopreservation with 10% DMSO in serum based on post-thaw cell survival and short-term proliferation assays. see more The effectiveness of the novel cryopreservation media in freezing hematopoietic stem cells from human whole bone marrow was assessed by extreme limiting dilution analysis in immunodeficient mice. Stem cell frequencies were measured 12 weeks after transplant based on bone marrow engraftment of erythroid, myeloid, B-lymphoid, and CD34+ progenitors measured by flow cytometry. The recovered numbers of cryopreserved stem cells were similar among XT-Thrive A, XT-Thrive B, and DMSO with serum groups. These findings show that cryoprotectants developed through biomimicry of natural antifreeze proteins offers a substitute for DMSO-based media for the cryopreservation of hematopoietic stem cells.Despite recommendations for vaccination after hematopoietic cell transplantation (HCT), immunization rates remain low leaving children at high risk for vaccine preventable infections (VPIs). However, the burden from VPIs in pediatric HCT recipients is not well known. We describe the prevalence, risk factors, and outcomes of VPI-associated hospitalizations at centers participating in the Pediatric Health Information System database. Children less then 18 years who underwent allogeneic or autologous-HCT between 1/1/2010-31/12/2018, were identified and prevalence of overall VPI and of each infection were determined at five time-points within 5 years post-HCT. In total, 684 of 9591 pediatric HCT recipients had a VPI-associated hospitalization, most frequently in the first 6-12 months, for an overall prevalence of 7.1% (95% CI 6.6-7.7%). Influenza, varicella, and invasive pneumococcal infections were the most frequent. Multivariable analyses identified younger age (OR = 0.96 [95% CI 0.93-0.99]; p = 0.013), primary immune deficiency (PID) (OR = 1.78 [95% CI 1.11-2.84]; p = 0.016), and GVHD (OR = 1.62 [95% CI 1.05-2.48]; p = 0.028) as independent risk factors during the initial HCT-hospitalization. Children with VPI had longer duration of hospitalization (55[51] vs 36[24] days, p  less then  0.001), higher rates of ICU admission (42 vs 26%, p  less then  0.001), and mortality (11% [n = 17) vs 6% [n = 519]; p = 0.003). Continued efforts to improve vaccination early post-HCT are warranted.The effects of childhood hematopoietic stem cell transplantation (HSCT) on key organs can impair cardiorespiratory fitness, muscle strength, and physical performance. We aimed to provide an overview of childhood HSCT survivors' status on these parameters compared with healthy controls and discuss current insights into clinical risk factors. We performed a systematic search in six scientific databases, including studies published before April 2019 and performed a meta-analysis on cardiorespiratory fitness. Muscle strength and physical performance status were presented narratively. We included ten studies embodying 517 childhood HSCT survivors (mean 17.8 years at follow-up). The meta-analysis (n = 4 studies) showed that childhood HSCT survivors have lower cardiorespiratory fitness compared with healthy controls (Standard mean difference (SMD) -1.32 [95% CI -1-58 to -1.07]; I2 2%, p  less then  0.00001). Collectively, the studies indicated that childhood HSCT survivors have lower muscle strength (n = 4 studies) and physical performance (n = 3 studies) compared with healthy controls. Childhood HSCT survivors have impaired cardiorespiratory fitness years after ended treatment. Muscle strength and physical performance seem to be impaired, although these measures are insufficiently investigated. Associations between HSCT-specific clinical risk factors and cardiorespiratory fitness, muscle strength, and physical performance are required.Silicone is widely used in chronic implants and is generally perceived to be safe. However, textured breast implants have been associated with immune-related complications, including malignancies. Here, by examining for up to one year the foreign body response and capsular fibrosis triggered by miniaturized or full-scale clinically approved breast implants with different surface topography (average roughness, 0-90 μm) placed in the mammary fat pads of mice or rabbits, respectively, we show that surface topography mediates immune responses to the implants. We also show that the surface surrounding human breast implants collected during revision surgeries also differentially alters the individual's immune responses to the implant. Moreover, miniaturized implants with an average roughness of 4 μm can largely suppress the foreign body response and fibrosis (but not in T-cell-deficient mice), and that tissue surrounding these implants displayed higher levels of immunosuppressive FOXP3+ regulatory T cells. Our findings suggest that, amongst the topographies investigated, implants with an average roughness of 4 μm provoke the least amount of inflammation and foreign body response.