Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.

Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1. WES is a useful approach for diagnosing rare single-gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities

The Potential of Teledentistry in Community Oral Health for the Pediatric Population

• Dental caries is the most prevalent chronic disease of childhood in the US. • Young children are a particularly vulnerable population because of their dependence, inability to communicate needs, and relative poverty. • Furthermore, this can be exacerbated by disparities such that an increased rates of caries are observed in children who are of low socioeconomic status and minority backgrounds. • However, community oral health screenings can play a vital role in childhood caries as a predominately preventable disease. • The current emphasis on social distance during the COVID-19 pandemic has brought attention to teledentistry, which may have a valuable role in the future of community oral health outreach

Chandra Observations of NGC 4438: An Environmentally Damaged Galaxy in the Virgo Cluster

We present results from a 25 ksec CHANDRA ACIS-S observation of galaxies NGC4438 and NGC4435 in the Virgo Cluster. X-ray emission in NGC4438 is observed in a ~700 pc nuclear region, a 2.3 kpc spherical bulge, and a network of filaments extending 4-10 kpc to the W and SW of the galaxy. The X-ray emission in all 3 regions is highly correlated to similar features observed in Halpha. Spectra of the filaments and bulge are well represented by a 0.4 keV MEKAL model with combined 0.3-2 keV intrinsic luminosity of 1.24x10^{40}erg/s, electron densities ~ 0.02-0.04 cm^{-3}, cooling times of 400-700 Myr and X-ray gas mass <~ 3.7x10^8 Msolar. In the nuclear region of NGC4438 X-ray emission is seen from the nucleus and from two outflow bubbles extending 360(730) pc to the NW(SE) of the nucleus. The spectrum of the NW outflow bubble plus nucleus is well fitted by an absorbed (n_H=1.9x10^{21} cm^{-2}) 0.58 keV MEKAL plasma model plus a heavily absorbed (n_H = 2.9 x10^{22} cm^{-2}) Gamma = 2, power law component. The electron density, cooling time, and X-ray gas mass in the NW outflow are ~0.5 cm^{-3}, 30 Myr and 3.5x10^6 Msolar. Weak X-ray emission is observed in the central region of NGC4435 with the peak of the hard emission coincident with the galaxy's optical center; while the peak of the soft X-ray emission is displaced 316 pc to the NE. The spectrum of NGC 4435 is well fitted by a non-thermal power law plus a thermal component from 0.2-0.3 keV diffuse ISM gas. We argue that the X-ray properties of gas outside the nuclear region in NGC4438 and in NGC4435 favor a high velocity, off-center collision between these galaxies ~ 100 Myr ago; while the nuclear X-ray emitting outflow gas in NGC4438 has been heated only recently (within ~ 1-2 Myr) by shocks (v_s ~ 600 kms^{-1}) possibly powered by a central AGN.Comment: 40 pages, 7 figures; minor changes to conform to published version, improved spectral fits to NGC 4435, improved figures 3,5; new figures 6b,

Dementia assessment and management in primary care settings: a survey of current provider practices in the United States.

BACKGROUND:Primary care providers (PCPs) are typically the first to screen and evaluate patients for neurocognitive disorders (NCDs), including mild cognitive impairment and dementia. However, data on PCP attitudes and evaluation and management practices are sparse. Our objective was to quantify perspectives and behaviors of PCPs and neurologists with respect to NCD evaluation and management. METHODS:A cross-sectional survey with 150 PCPs and 50 neurologists in the United States who evaluated more than 10 patients over age 55 per month. The 51-item survey assessed clinical practice characteristics, and confidence, perceived barriers, and typical practices when diagnosing and managing patients with NCDs. RESULTS:PCPs and neurologists reported similar confidence and approaches to general medical care and laboratory testing. Though over half of PCPs performed cognitive screening or referred patients for cognitive testing in over 50% of their patients, only 20% reported high confidence in interpreting results of cognitive tests. PCPs were more likely to order CT scans than MRIs, and only 14% of PCPs reported high confidence interpreting brain imaging findings, compared to 70% of specialists. Only 21% of PCPs were highly confident that they correctly recognized when a patient had an NCD, and only 13% were highly confident in making a specific NCD diagnosis (compared to 72 and 44% for neurologists, both p &lt; 0.001). A quarter of all providers identified lack of familiarity with diagnostic criteria for NCD syndromes as a barrier to clinical practice. CONCLUSIONS:This study demonstrates how PCPs approach diagnosis and management of patients with NCDs, and identified areas for improvement in regards to&nbsp;cognitive testing and neuroimaging. This study also identified all&nbsp;providers' lack of familiarity with published diagnostic criteria for NCD syndromes. These findings may inform the development of new policies and interventions to help providers improve the efficacy of their decision processes and deliver better quality care to patients with NCDs

Automated Absorber Attachment for X-ray Microcalorimeter Arrays

Our goal is to develop a method for the automated attachment of large numbers of absorber tiles to large format detector arrays. This development includes the fabrication of high quality, closely spaced HgTe absorber tiles that are properly positioned for pick-and-place by our FC150 flip chip bonder. The FC150 also transfers the appropriate minute amount of epoxy to the detectors for permanent attachment of the absorbers. The success of this development will replace an arduous, risky and highly manual task with a reliable, high-precision automated process

Thin liquid water clouds: their importance and our challenge

Many clouds important to the Earth’s energy balance contain small amounts of liquid water, yet despite many improvements, large differences in retrievals of their liquid water amount and particle size still must be resolved

Identification of miRNA signatures associated with radiation-induced late lung injury in mice.

Acute radiation exposure of the thorax can lead to late serious, and even life-threatening, pulmonary and cardiac damage. Sporadic in nature, late complications tend to be difficult to predict, which prompted this investigation into identifying non-invasive, tissue-specific biomarkers for the early detection of late radiation injury. Levels of circulating microRNA (miRNA) were measured in C3H and C57Bl/6 mice after whole thorax irradiation at doses yielding approximately 70% mortality in 120 or 180 days, respectively (LD70/120 or 180). Within the first two weeks after exposure, weight gain slowed compared to sham treated mice along with a temporary drop in white blood cell counts. 52% of C3H (33 of 64) and 72% of C57Bl/6 (46 of 64) irradiated mice died due to late radiation injury. Lung and heart damage, as assessed by computed tomography (CT) and histology at 150 (C3H mice) and 180 (C57Bl/6 mice) days, correlated well with the appearance of a local, miRNA signature in the lung and heart tissue of irradiated animals, consistent with inherent differences in the C3H and C57Bl/6 strains in their propensity for developing radiation-induced pneumonitis or fibrosis, respectively. Radiation-induced changes in the circulating miRNA profile were most prominent within the first 30 days after exposure and included miRNA known to regulate inflammation and fibrosis. Importantly, early changes in plasma miRNA expression predicted survival with reasonable accuracy (88-92%). The miRNA signature that predicted survival in C3H mice, including miR-34a-5p, -100-5p, and -150-5p, were associated with pro-inflammatory NF-κB-mediated signaling pathways, whereas the signature identified in C57Bl/6 mice (miR-34b-3p, -96-5p, and -802-5p) was associated with TGF-β/SMAD signaling. This study supports the hypothesis that plasma miRNA profiles could be used to identify individuals at high risk of organ-specific late radiation damage, with applications for radiation oncology clinical practice or in the context of a radiological incident

Genetic analysis of the Linnaean Ulva lactuca (Ulvales, Chlorophyta) holotype and related type specimens reveals name misapplications, unexpected origins, and new synonymies.

Current usage of the name Ulva lactuca, the generitype of Ulva, remains uncertain. Genetic analyses were performed on the U. lactuca Linnaean holotype, the U. fasciata epitype, the U. fenestrata holotype, the U. lobata lectotype, and the U. stipitata lectotype. The U. lactuca holotype is nearly identical in rbcL sequence to the U. fasciata epitype, a warm temperate to tropical species, rather than the cold temperate species to which the name U. lactuca has generally been applied. We hypothesize that the holotype specimen of U. lactuca came from the Indo-Pacific rather than northern Europe. Our analyses indicate that U. fasciata and U. lobata are heterotypic synonyms of U. lactuca. Ulva fenestrata is the earliest name for northern hemisphere, cold temperate Atlantic and Pacific species, with U. stipitata a junior synonym. DNA sequences from type specimens provide an unequivocal method for applying names to Ulva species. This article is protected by copyright. All rights reserved

Design and Fabrication Highlights Enabling a 2mm, 128 Element Bolometer Array for GISMO

The design and fabrication of a background limited, 128 pixel Transition Edge Sensor (TES) bolometer array for the Goddard IRAM Super-conducting 2-mm Observer (GISMO) is presented