Sonographic prenatal diagnosis of congenital Marfan syndrome

Congenital Marfan syndrome is a rare and severe disease of the newborn, causing devastating and often fatal effects on the cardiovascular, pulmonary, and musculoskeletal systems. Familial mutations of FBN1 have been studied and identified in Marfan syndrome, but the congenital variant is often due to de novo mutations, limiting the diagnostic capabilities of genetic screening. Ultrasound is essential for early diagnosis and management, yet few cases of sonographic diagnosis have been cited in the literature. This report outlines one such case of congenital Marfan syndrome diagnosed at 24-week ultrasound. Further detailed reports should aim to improve screening, diagnosis, and treatment of congenital Marfan syndrome to advance options in family planning and disease management

Pre-eclampsia and eclampsia: global challenges in low resource settings complete with proposed interventions in rural Haiti

Preeclampsia is a complex multi-pathway disease process diagnosed by hypertension with two readings of systolic blood pressure ≥ 140 mmHg and/or diastolic BP ≥ 90 mmHg, separated by a 4-6 hour period, and proteinuria with a urine dipstick of ≥ 1+ or ≥ 300 mg per 24 hours, after 20 weeks’ gestation in a previously normotensive patient. Ninety-nine percent of pregnancy related deaths occur in middle and low-income countries (LMIC). Of these deaths, the World Health Organization (WHO) ranks pre-eclampsia and eclampsia as the second leading direct cause of maternal morbidity and mortality, behind only postpartum hemorrhage. A woman born in a developing country has a seven times greater risk of developing pre-eclampsia and a three times greater risk of progressing to eclampsia. This paper seeks to review what we know about the basics of detection and management to encourage thoughtful applications in improving the global burden of pre-eclampsia and eclampsia in low resources settings

Gross and net production during the spring bloom along the Western Antarctic Peninsula

Author Posting. © The Author(s), 2014. This is the author's version of the work. It is posted here by permission of New Phytologist Trust for personal use, not for redistribution. The definitive version was published in New Phytologist 205 (2015): 182-191, doi:10.1111/nph.13125.This study explores some of the physiological mechanisms responsible for high productivity near the shelf in the Western Antarctic Peninsula despite a short growing season and cold temperature. We measured gross and net primary production at Palmer Station during the summer 2012/2013 via three different techniques: 1) incubation with H218O; 2) incubation with 14CO2; and 3) in situ measurements of O2/Ar and triple oxygen isotope. Additional laboratory experiments were performed with the psychrophilic diatom Fragilariopsis cylindrus. During the spring bloom, which accounted for more than half of the seasonal gross production at Palmer Station, the ratio of net to gross production reached a maximum greater than ~60%, among the highest ever reported. The use of multiple-techniques showed that these high ratios resulted from low heterotrophic respiration and very low daylight autotrophic respiration. Laboratory experiments revealed a similar ratio of net to gross O2 production in F.cylindrus and provided the first experimental evidence for an important level of cyclic electron flow (CEF) in this organism. The low ratio of community respiration to gross primary production observed during the bloom at Palmer Station may be characteristic of high latitude coastal ecosystems and partially supported by a very active CEF in psychrophilic phytoplankton.This study was supported by funds from the US National Science Foundation (Award numbers 1040965 and 1043593). Funding to PDT was provided by the Natural Science and Engineering Research Council of Canada

Adherence to the updated guidelines for the prevention of perinatal Group B streptococcal disease

In 2010, the Centers for Disease Control and Prevention updated the Guidelines for the Prevention of Perinatal Group B Streptococcal (GBS) Disease. Previous studies of adherence to GBS guidelines have focused on the treatment of carriers of GBS. Our objective was to determine whether there was any difference in adherence to the guidelines for screening and treatment of women who delivered at our institution between the beginning of 2011 and the end of 2011 as the revised guidelines were published in November 2010. Our secondary outcome was to determine whether any differences in adherence occurred between prenatal provider types (OB/Gyn, Certified Nurse Midwives, and Family Practice)

Drug Combinations as a First Line of Defense against Coronaviruses and Other Emerging Viruses

The world was unprepared for coronavirus disease 2019 (COVID-19) and remains ill-equipped for future pandemics. While unprecedented strides have been made developing vaccines and treatments for COVID-19, there remains a need for highly effective and widely available regimens for ambulatory use for novel coronaviruses and other viral pathogens. We posit that a priority is to develop pan-family drug cocktails to enhance potency, limit toxicity, and avoid drug resistance. We urge cocktail development for all viruses with pandemic potential both in the short term (Peer reviewe

Disparities in registration and use of an online patient portal among older adults: findings from the LitCog cohort

(C) The Author 2015. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved.Financial disclosure: This project was supported by the National Institute on Aging (R01 AG030611), the National Center for Research Resources (5UL1RR025741), and the National Center for Advancing Translational Sciences (Grant 8UL1TR000150). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Smith is currently supported by a Cancer Research UK Fellowship

The PTF Orion Project: a Possible Planet Transiting a T-Tauri Star

We report observations of a possible young transiting planet orbiting a previously known weak-lined T-Tauri star in the 7-10 Myr old Orion-OB1a/25-Ori region. The candidate was found as part of the Palomar Transient Factory (PTF) Orion project. It has a photometric transit period of 0.448413 +- 0.000040 days, and appears in both 2009 and 2010 PTF data. Follow-up low-precision radial velocity (RV) observations and adaptive optics imaging suggest that the star is not an eclipsing binary, and that it is unlikely that a background source is blended with the target and mimicking the observed transit. RV observations with the Hobby-Eberly and Keck telescopes yield an RV that has the same period as the photometric event, but is offset in phase from the transit center by approximately -0.22 periods. The amplitude (half range) of the RV variations is 2.4 km/s and is comparable with the expected RV amplitude that stellar spots could induce. The RV curve is likely dominated by stellar spot modulation and provides an upper limit to the projected companion mass of M_p sin i_orb < 4.8 +- 1.2 M_Jup; when combined with the orbital inclination, i orb, of the candidate planet from modeling of the transit light curve, we find an upper limit on the mass of the planetary candidate of M_p < 5.5 +- 1.4 M_Jup. This limit implies that the planet is orbiting close to, if not inside, its Roche limiting orbital radius, so that it may be undergoing active mass loss and evaporation.Comment: Corrected typos, minor clarifications; minor updates/corrections to affiliations and bibliography. 35 pages, 10 figures, 3 tables. Accepted to Ap

Hodgkin's lymphoma masquerading as vertebral osteomyelitis in a man with diabetes: a case report

<p>Abstract</p> <p>Introduction</p> <p>Infection and malignancy often have common characteristics which render the differential diagnosis for a prolonged fever difficult. Imaging and tissue biopsy are crucial in making a correct diagnosis, though differentiating between chronic osteomyelitis and malignancy is not always straightforward as they possess many overlapping features.</p> <p>Case Presentation</p> <p>A 52-year-old Caucasian man was treated with antibiotics for his diabetic foot infection after a superficial culture showed <it>Staphylococcus aureus</it>. He had persistent fevers for several weeks and later developed acute onset of back pain which was treated with several courses of antibiotics. Radiographic and pathological findings were atypical, and a diagnosis of Hodgkin's lymphoma was made 12 weeks later.</p> <p>Conclusion</p> <p>Clinicians should maintain a suspicion for Hodgkin's lymphoma or other occult malignancy when features of presumed osteomyelitis are atypical. Chronic vertebral osteomyelitis in particular often lacks features common to acute infectious disease processes, and the chronic lymphocytic infiltrates seen on histopathology have very similar features to Hodgkin's lymphoma, highlighting a similar inflammatory microenvironment sustained by both processes.</p

Evaluating triple oxygen isotope estimates of gross primary production at the Hawaii Ocean Time-series and Bermuda Atlantic Time-series Study sites

Author Posting. © American Geophysical Union, 2012. This article is posted here by permission of American Geophysical Union for personal use, not for redistribution. The definitive version was published in Journal of Geophysical Research 117 (2012): C05012, doi:10.1029/2010JC006856.The triple oxygen isotopic composition of dissolved oxygen (17Δ) is a promising tracer of gross oxygen productivity (P) in the ocean. Recent studies have inferred a high and variable ratio of P to 14C net primary productivity (12–24 h incubations) (e.g., P:NPP(14C) of 5–10) using the 17Δ tracer method, which implies a very low efficiency of phytoplankton growth rates relative to gross photosynthetic rates. We added oxygen isotopes to a one-dimensional mixed layer model to assess the role of physical dynamics in potentially biasing estimates of P using the 17Δ tracer method at the Bermuda Atlantic Time-series Study (BATS) and Hawaii Ocean Time-series (HOT). Model results were compared to multiyear observations at each site. Entrainment of high 17Δ thermocline water into the mixed layer was the largest source of error in estimating P from mixed layer 17Δ. At both BATS and HOT, entrainment bias was significant throughout the year and resulted in an annually averaged overestimate of mixed layer P of 60 to 80%. When the entrainment bias is corrected for, P calculated from observed 17Δ and 14C productivity incubations results in a gross:net productivity ratio of 2.6 (+0.9 −0.8) at BATS. At HOT a gross:net ratio decreasing linearly from 3.0 (+1.0 −0.8) at the surface to 1.4 (+0.6 −0.6) at depth best reproduced observations. In the seasonal thermocline at BATS, however, a significantly higher gross:net ratio or large lateral fluxes of 17Δ must be invoked to explain 17Δ field observations.We acknowledge support from Center for Microbial Oceanography Research and Education (CMORE) (NSF EF-0424599) and NOAA Global Carbon Program (NA 100AR4310093). BL thanks the USA-Israel Binational Science Foundation for supporting his project at BATS.2012-11-0

An expansive human regulatory lexicon encoded in transcription factor footprints.

Regulatory factor binding to genomic DNA protects the underlying sequence from cleavage by DNase I, leaving nucleotide-resolution footprints. Using genomic DNase I footprinting across 41 diverse cell and tissue types, we detected 45 million transcription factor occupancy events within regulatory regions, representing differential binding to 8.4 million distinct short sequence elements. Here we show that this small genomic sequence compartment, roughly twice the size of the exome, encodes an expansive repertoire of conserved recognition sequences for DNA-binding proteins that nearly doubles the size of the human cis-regulatory lexicon. We find that genetic variants affecting allelic chromatin states are concentrated in footprints, and that these elements are preferentially sheltered from DNA methylation. High-resolution DNase I cleavage patterns mirror nucleotide-level evolutionary conservation and track the crystallographic topography of protein-DNA interfaces, indicating that transcription factor structure has been evolutionarily imprinted on the human genome sequence. We identify a stereotyped 50-base-pair footprint that precisely defines the site of transcript origination within thousands of human promoters. Finally, we describe a large collection of novel regulatory factor recognition motifs that are highly conserved in both sequence and function, and exhibit cell-selective occupancy patterns that closely parallel major regulators of development, differentiation and pluripotency