A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1

We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers through a systematic literature review. We also include a case of a constitutional balanced t(9;22) carrier from our institution. Among the 16 balanced t(9;22) carriers in our review, 13 were maternal and 3 were paternal. Of the 15 unbalanced translocation cases identified, 13 were live births, one was a missed abortion, and one resulted in pregnancy termination. The spectrum of established syndromes reported among the live births was the following: trisomy 9p syndrome (6/13), dual trisomy 9p and DiGeorge syndrome (3/13), dual 9q subtelomere deletion syndrome and DiGeorge syndrome (1/13), 9q subtelomere deletion syndrome (1/13), and DiGeorge syndrome (1/13). One unbalanced case did not have a reported syndrome. The phenotype of the unbalanced cases included cardiac abnormalities (5/13), neurological findings (7/13), intellectual disability (6/10), urogenital anomalies (3/13), respiratory or immune dysfunction (3/13), and facial or skeletal dysmorphias (13/13). Any constitutional balanced reciprocal t(9;22) carrier should be counseled regarding the increased risk of having a child with an unbalanced translocation, the spectrum of possible cytogenetic abnormalities, and predicted clinical phenotype for the unbalanced derivative

Design and Performance of a Novel Low Energy Multi-Species Beamline for the ALPHA Antihydrogen Experiment

The ALPHA Collaboration, based at the CERN Antiproton Decelerator, has recently implemented a novel beamline for low-energy ($\lesssim$ 100 eV) positron and antiproton transport between cylindrical Penning traps that have strong axial magnetic fields. Here, we describe how a combination of semianalytical and numerical calculations were used to optimise the layout and design of this beamline. Using experimental measurements taken during the initial commissioning of the instrument, we evaluate its performance and validate the models used for its development. By combining data from a range of sources, we show that the beamline has a high transfer efficiency, and estimate that the percentage of particles captured in the experiments from each bunch is (78 $\pm$ 3)% for up to $10^{5}$ antiprotons, and (71 $\pm$ 5)% for bunches of up to $10^{7}$ positrons.Comment: 15 pages, 15 figure

Visualization of Micro-Particle Retention on a Heterogeneous Surface Using Micro-models: Influence of Nanoscale Surface Roughness

Nanoscale surface roughness and charge heterogeneity have been widely recognized to influence particle retention in porous media under unfavourable chemical conditions such as solutions of low ionic strength (IS) or high pH. However, previous researches have not appreciated the influence of nanoscale surface roughness on particle retention under favourable chemical conditions (e.g. high solution IS). This information is needed to better understand and predict particle transport and retention in such natural environments, such as enhanced oil recovery in a high-salinity reservoir. A glass-etched micro-model was employed to directly visualize retention of micro-sized particles and their spatial distribution on the glass surface under various chemical conditions. The extended DLVO calculations accounting for the effect of nanoscale surface roughness on the interaction energies were employed to quantitatively evaluate the experimental results. It was shown that nanoscale roughness on solid surfaces significantly reduced the strength of primary minimum attachment when the solution IS was high. In particular, increasing the density of roughness on the solid surface increased the strength of primary minimum, whereas increasing the roughness height decreased the strength of primary minimum interaction. Consequently, retained particles in the primary minimum are expected to be susceptible to detachment via hydrodynamic drag forces and movement of air–water interfaces during transient in water saturation (e.g. drainage or imbibition). Indeed, results obtained from the micro-model experiments demonstrated that only a fraction of solid surface was available for particle retention even at a very high IS of 0.6 M.Joel Argent, Saeed Torkzaban, Stephen Hubbard, Helen Le, Tahmineh Amirianshoja, Manouchehr Haghigh

An Omics Approach to Extracellular Vesicles from HIV-1 Infected Cells

Human Immunodeficiency Virus-1 (HIV-1) is the causative agent of Acquired Immunodeficiency Syndrome (AIDS), infecting nearly 37 million people worldwide. Currently, there is no definitive cure, mainly due to HIV-1′s ability to enact latency. Our previous work has shown that exosomes, a small extracellular vesicle, from uninfected cells can activate HIV-1 in latent cells, leading to increased mostly short and some long HIV-1 RNA transcripts. This is consistent with the notion that none of the FDA-approved antiretroviral drugs used today in the clinic are transcription inhibitors. Furthermore, these HIV-1 transcripts can be packaged into exosomes and released from the infected cell. Here, we examined the differences in protein and nucleic acid content between exosomes from uninfected and HIV-1-infected cells. We found increased cyclin-dependent kinases, among other kinases, in exosomes from infected T-cells while other kinases were present in exosomes from infected monocytes. Additionally, we found a series of short antisense HIV-1 RNA from the 3′ LTR that appears heavily mutated in exosomes from HIV-1-infected cells along with the presence of cellular noncoding RNAs and cellular miRNAs. Both physical and functional validations were performed on some of the key findings. Collectively, our data indicate distinct differences in protein and RNA content between exosomes from uninfected and HIV-1-infected cells, which can lead to different functional outcomes in recipient cells