WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?

Introduction: Primary ciliary dyskinesia (PCD; MIM 244400) is a heterogeneous autosomal recessive genetic disorder associated with infertility due to impaired sperm motility in men. We describe two such cases and give a literature review on the genetic background and reproductive outcome. Materials and methods: Two primary infertile couples were referred to our clinic. Native semen, analyzed according to the WHO manual (2010), showed that male partners have completely immotile sperm with a negative pentoxifylline test. Sample vitality was compared according to different semen preparation methods (gradient density and washing method only). Genetic testing was done by Whole Exome next-generation Sequencing (WES) analysis. For the IVF/ICSI procedure, semen was prepared using the gradient density method, and prior to the ICSI procedure itself, a hypo-osmotic swelling test (HOST) was done. Results: Semen analysis showed oligoasthenozoospermia in Patient 1 and oligoasthenoteratozoospermia in Patient 2. Blood draw for hormones and karyotype showed no irregularities in either case. Patient 1 was previously diagnosed with PCD, while Patient 2 was not. Parallel vitality testing did not show any differences between the two semen preparation methods in either of the two cases. Genetic testing in Patient 2 showed a pathogenic apparently homozygous CCDC40:c.2440C>T variant in exon 14 of the CCDC40 gene (MIM 613799). Fertilization rate after HOST/ICSI in both patients was 100%, and the final outcome for both patients was the birth of a healthy child. Conclusion: Although PCD has diverse etiology, assisted reproduction techniques such as HOST give these couples a good chance for parenthood. Advances in testing and strict adherence to advised procedures are to be credited for such outcome improvement. Additionally, our recommendation for PCD patients and patients with immotile sperm is to do genetic testing and counselling prior to the IVF/ICSI procedure

WHAT DO WE KNOW ABOUT THE GENETIC BACKGROUND OF PRIMARY CILIARY DYSKINESIA (PCD) AND THE REPRODUCTIVE APPROACH?

Introduction: Primary ciliary dyskinesia (PCD; MIM 244400) is a heterogeneous autosomal recessive genetic disorder associated with infertility due to impaired sperm motility in men. We describe two such cases and give a literature review on the genetic background and reproductive outcome. Materials and methods: Two primary infertile couples were referred to our clinic. Native semen, analyzed according to the WHO manual (2010), showed that male partners have completely immotile sperm with a negative pentoxifylline test. Sample vitality was compared according to different semen preparation methods (gradient density and washing method only). Genetic testing was done by Whole Exome next-generation Sequencing (WES) analysis. For the IVF/ICSI procedure, semen was prepared using the gradient density method, and prior to the ICSI procedure itself, a hypo-osmotic swelling test (HOST) was done. Results: Semen analysis showed oligoasthenozoospermia in Patient 1 and oligoasthenoteratozoospermia in Patient 2. Blood draw for hormones and karyotype showed no irregularities in either case. Patient 1 was previously diagnosed with PCD, while Patient 2 was not. Parallel vitality testing did not show any differences between the two semen preparation methods in either of the two cases. Genetic testing in Patient 2 showed a pathogenic apparently homozygous CCDC40:c.2440C>T variant in exon 14 of the CCDC40 gene (MIM 613799). Fertilization rate after HOST/ICSI in both patients was 100%, and the final outcome for both patients was the birth of a healthy child. Conclusion: Although PCD has diverse etiology, assisted reproduction techniques such as HOST give these couples a good chance for parenthood. Advances in testing and strict adherence to advised procedures are to be credited for such outcome improvement. Additionally, our recommendation for PCD patients and patients with immotile sperm is to do genetic testing and counselling prior to the IVF/ICSI procedure

Organic enrichment in droplet residual particles relative to out of cloud over the northwestern Atlantic: analysis of airborne ACTIVATE data

Cloud processing is known to generate aerosol species such as sulfate and secondary organic aerosol, yet there is a scarcity of airborne data to examine this issue. The NASA Aerosol Cloud meTeorology Interactions oVer the western ATlantic Experiment (ACTIVATE) was designed to build an unprecedented dataset relevant to aerosol cloud interactions with two coordinated aircraft over the northwestern Atlantic, with aerosol mass spectrometer data used from four deployments between 2020 2021 to contrast aerosol composition below, in (using a counterflow virtual impactor) and above boundary layer clouds

Spatially-coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: The NASA ACTIVATE dataset

The NASA Aerosol Cloud meTeorology Interactions oVer the western ATlantic Experiment (ACTIVATE) produced a unique dataset for research into aerosol-cloud-meteorology interactions. An HU-25 Falcon and King Air conducted systematic and spatially coordinated flights over the northwest Atlantic Ocean. This paper describes the ACTIVATE flight strategy, instrument and complementary dataset products, data access and usage details, and data application notes

Developing Optical Algorithms to Advance Airborne Measurements of Aerosol and Meteorological Properties

The marine atmospheric boundary layer (MABL), the layer between the ocean and free troposphere, hosts a suite of important atmospheric processes such as heat and temperature flux, gas exchange of carbon dioxide and water vapor, cloud evolution, and aerosol particle transport. To measure these complex processes and provide a complete picture of the MABL, organizations such as the National Aeronautics and Space Administration (NASA), the National Oceanic and Atmospheric Administration (NOAA), and the Office of Naval Research (ONR) conduct airborne field campaigns that use a multitude of in-situ and remote sensing platforms. This dissertation introduces two studies that aim to improve airborne measurements of 1) ocean surface wind speeds and 2) atmospheric aerosol particles. Both of these studies focus on the in-situ and remote sensing instruments used in NASA’s Aerosol Cloud meTeorology Interactions oVer the western ATlantic Experiment (ACTIVATE) field campaign that took place from 2020 – 2022. The first study of this dissertation introduces a new 10 m ocean surface wind speed product from the High Spectral Resolution Lidar – generation 2 (HSRL-2) developed at the NASA Langley Research Center (LaRC) and evaluates it using coincident dropsonde surface wind speed data collected during the NASA ACTIVATE field campaign. The HSRL-2 directly retrieves vertically resolved aerosol backscatter and extinction profiles without relying on an assumed lidar ratio or other external aerosol constraints, enabling accurate estimates of the attenuation of the atmosphere and direct retrieval of surface wind speed through probing the variance of ocean wave slopes (i.e., wave-slope variance). The important findings from this study are 1) HSRL-2 surface wind speed retrieval accuracy is 0.15 m s-1 ± 1.80 m s-1, 2) dropsonde surface wind speed measurements most closely match with the Hu et al. (2008) wind speed-wave-slope variance model for surface wind speeds below 7 m s-1, showing that this model is best to use for HSRL-2 retrievals, 3) the fine horizontal spatial resolution of the HSRL-2 (0.5 s or ~75 m along track) provides near-continuous profiles of surface wind speed over time, allowing for the instrument to probe MABL processes such as sea surface temperature (SST) dynamics and cloud evolution, and 4) the HSRL-2 can detect the ocean surface in broken cloud scenes, showing that the retrievals are not limited to aerosol-free conditions, thus enabling substantial retrievals in scenes with high cloud fraction over the northwest Atlantic. The second study focuses on improving airborne measurements of atmospheric aerosol particles through evaluation of the following microphysical and optical property data: aerosol number concentration (N_a), aerosol effective radius (r_eff), aerosol extinction at 532 nm (ε_532nm), and single scattering albedo (SSA) at 555 nm. A rigorous comparison analysis between ACTIVATE’s in-situ and remote sensing instruments (i.e., external closure) is conducted to see if measurements of the aforementioned aerosol data agree with one another. It is difficult to perform closure between these two instrument platforms because in-situ instruments provide dry (~ 20% relative humidity (RH)) aerosol measurements while remote sensors retrieve these data at ambient RH conditions. Also, in-situ instruments can only sample fine-mode particles due to the sampling inlet of the aircraft only allowing particles with diameters < 5 µm to pass through; this is problematic for intercomparisons with remote sensors that retrieve information about particles extending into coarser sizes. To overcome these limitations, the In Situ Aerosol Retrieval Algorithm (ISARA) is introduced, a forward optical algorithm that adjusts dry in-situ aerosol data into ambient data for both fine- and coarse-mode particles. This study demonstrates that for marine environments, appropriate a priori assumptions for coarse-mode aerosol allow for consistent closure between in-situ measurements and lidar and polarimetric retrievals of total (fine- + coarse-mode) aerosol properties. The second main finding is that it is possible to systematically close in-situ and polarimeter aerosol data, which has not been shown in the literature to date. Overall, it is hoped that optical technologies and algorithms can continue to advance our knowledge of the atmosphere by providing state-of-the-art measurements of critical MABL parameters

Progress Toward a Vacuum-Ultraviolet Raman Spectrometer to Detect Pathogens

Rapid detection and identification of novel viruses, such as SARS-CoV-2, are critical to treat, isolate, or hospitalize those infected; and ultimately, to curb the spread of the virus. Diagnostic assays, such as quantitative reverse transcriptase polymerase chain reaction (RT-qPCR), are considered the gold standard for testing. However, these methods are labor-intensive and/or involve creating probe molecules specific to the virus. We propose Raman spectroscopy as an alternative method of detection, because samples can be efficiently used with a simple spectrometer configuration with measurements collected on the order of seconds, eliminating the drawbacks of RT-qPCR. Specifically, we are developing a vacuum-ultraviolet (VUV) Raman spectrometer using an incoherent excitation source that emits hydrogen Lyman-α (HLA) at 121.57 nm. Since HLA Raman spectroscopy has not been demonstrated in literature to date, this paper serves to justify the use of an HLA Raman excitation source. The main question posed throughout this work is, “Is achieving detectable Raman signal possible by using a 121.57 nm light source?” Through a literature review of other Raman spectroscopy work and our own experiments relating to source and camera optimization, it is concluded that achieving detectable Raman signal at 121.57 nm is indeed possible. In the future, we expect to produce consistent Raman spectra in samples. To achieve that goal, further efforts are needed in terms of maximizing source power and minimizing camera noise. Overall, we expect that HLA Raman spectroscopy will transform diagnostic medicine and several other industries through its powerful capabilities of detecting real-time infections and important health markers

Spatially coordinated airborne data and complementary products for aerosol, gas, cloud, and meteorological studies: the NASA ACTIVATE dataset

The NASA Aerosol Cloud meTeorology Interactions oVer the western ATlantic Experiment (ACTIVATE) produced a unique dataset for research into aerosol–cloud–meteorology interactions, with applications extending from process-based studies to multi-scale model intercomparison and improvement as well as to remote-sensing algorithm assessments and advancements. ACTIVATE used two NASA Langley Research Center aircraft, a HU-25 Falcon and King Air, to conduct systematic and spatially coordinated flights over the northwest Atlantic Ocean, resulting in 162 joint flights and 17 other single-aircraft flights between 2020 and 2022 across all seasons. Data cover 574 and 592 cumulative flights hours for the HU-25 Falcon and King Air, respectively. The HU-25 Falcon conducted profiling at different level legs below, in, and just above boundary layer clouds (< 3 km) and obtained in situ measurements of trace gases, aerosol particles, clouds, and atmospheric state parameters. Under cloud-free conditions, the HU-25 Falcon similarly conducted profiling at different level legs within and immediately above the boundary layer. The King Air (the high-flying aircraft) flew at approximately ∼ 9 km and conducted remote sensing with a lidar and polarimeter while also launching dropsondes (785 in total). Collectively, simultaneous data from both aircraft help to characterize the same vertical column of the atmosphere. In addition to individual instrument files, data from the HU-25 Falcon aircraft are combined into “merge files” on the publicly available data archive that are created at different time resolutions of interest (e.g., 1, 5, 10, 15, 30, 60 s, or matching an individual data product's start and stop times). This paper describes the ACTIVATE flight strategy, instrument and complementary dataset products, data access and usage details, and data application notes. The data are publicly accessible through 10.5067/SUBORBITAL/ACTIVATE/DATA001 (ACTIVATE Science Team, 2020)