Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation.

We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This paper confirms the differentiation potential of the hiPSC line, the presence of the p.

Eastern Equine Encephalitis Virus: A Case Report and Brief Literature Review of Current Therapeutic and Preventative Strategies.

Eastern equine encephalitis virus (EEEV) is a rare mosquito-borne illness exhibiting rapid neurological deterioration and permanent damage. Despite its >30% mortality and >60% long-term neurological damage, EEEV has no approved antiviral medication or vaccination. This report uniquely aims to describe a rare case of EEEV and provide a current literature review of therapeutic and preventative options from the clinical perspective to guide clinicians and public health workers, along with informing them about its impact and current knowledge gaps.

The genome sequence of the cinnamon sedge caddisfly, (Curtis, 1834).

We present a genome assembly from an individual (a caddisfly; Arthropoda; Insecta; Trichoptera; Limnephilidae). The genome sequence is 1,630 megabases in span. Most of the assembly (99.

Assessing Empiric Antimicrobial Therapy With the Modified Dundee Classification for Nonpurulent Skin and Soft Tissue Infections in a Community Hospital System.

Background: The modified Dundee classification has recently been validated in various studies for nonpurulent skin and soft tissue infections. This has yet to be applied in the United States and within community hospital settings to optimize antimicrobial stewardship and ultimately patient care.

Methods: A retrospective, descriptive analysis was performed of 120 adult patients admitted to St.

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter, REviewer, and polymerase chain reaction validation to assess 21 neurodegenerative disease-associated STRs in whole-genome sequencing data from 608 patients with sporadic ALS, 68 patients with sporadic FTD, and 4703 matched controls. We also propose a data-derived outlier detection method for defining allele thresholds in rare STRs.

Tall Cell Variant of Invasive Papillary Breast Carcinoma.

Tall cell variant of invasive papillary breast carcinoma is exceedingly rare, with only 30 cases reported in the literature. This report describes a case of a 47-year-old woman who presented to the clinic with bilateral breast masses on a screening mammogram. The patient was lost to follow-up, but she presented again after 4 years when the right breast mass significantly grew in size over several months.

Case Report of Renal Cell Carcinoma Metastasis to the Breast.

Metastases from other primary malignancies to the breast are extremely rare, with an incidence of up to 2%. Renal cell carcinoma (RCC) is known to form micrometastases in unusual organs. This report describes a case of a RCC metastasis to the breast that was identified 20 years after nephrectomy.

Case Report of Histiocytoid Invasive Lobular Carcinoma.

The histiocytoid variant of invasive lobular carcinoma (ILC) is a rare subtype of breast cancer that can be challenging to diagnose and aggressive in nature. It is often diagnosed after the disease has metastasized. This report describes a case of a six-centimeter ILC of the histiocytoid subtype.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations with Australian laboratories identified resource constraints limiting routine application of manual processes, consent issues, and differences in interpretation systems as barriers to sharing.

Geneticin reduces mRNA stability.

Messenger RNA (mRNA) translation can lead to higher rates of mRNA decay, suggesting the ribosome plays a role in mRNA destruction. Furthermore, mRNA features, such as codon identities, which are directly probed by the ribosome, correlate with mRNA decay rates. Many amino acids are encoded by synonymous codons, some of which are decoded by more abundant tRNAs leading to more optimal translation and increased mRNA stability.

Thirteen-Centimeter Breast Lymphoma.

Lymphoma of the breast is a rare diagnosis, accounting for less than 0.5% of all breast malignancies. Presentation is usually similar to that of breast cancer, with a painless palpable mass.

Protein Composition and Associated Material Properties of Cobweb Spiders' Gumfoot Glue Droplets.

The origin of aggregate silk glands and their production of wet adhesive silks is considered a key innovation of the Araneoidea, a superfamily of spiders that build orb-webs and cobwebs. Orb-web weavers place aggregate glue on an extensible capture spiral, whereas cobweb weavers add it to the ends of strong, stiff fibers, called gumfoot lines. Here we describe the material behavior and quantitative proteomics of the aggregate glues of two cobweb weaving species, the western black widow, Latrodectus hesperus, and the common house spider, Parasteatoda tepidariorum.

Clinical and Economic Outcomes Among Nonvalvular Atrial Fibrillation Patients With Coronary Artery Disease and/or Peripheral Artery Disease.

To address literature gaps on treatment with real-world evidence, this study compared effectiveness, safety, and cost outcomes in NVAF patients with coronary or peripheral artery disease (CAD, PAD) prescribed apixaban versus other oral anticoagulants. NVAF patients aged ≥65 years co-diagnosed with CAD/PAD initiating warfarin, apixaban, dabigatran, or rivaroxaban were selected from the US Medicare population (January 1, 2013 to September 30, 2015). Propensity score matching was used to match apixaban versus warfarin, dabigatran, and rivaroxaban cohorts.

Disease Management and Outcomes in Patients Hospitalized for Acute Heart Failure in Japan.

Introduction: This study described patients hospitalized for acute heart failure (AHF) in Japan who received intravenous (IV) diuretics and/or vasodilators as the initial therapy.

Methods: The Japan Medical Data Vision database was used to identify adult patients hospitalized for AHF during 2013-2017, who were hemodynamically stable at presentation and treated with IV diuretics and/or IV vasodilators as initial therapy. Treatment patterns and use of cardiac rehabilitation, as well as outcomes (e.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC.

Reintegrating droperidol into emergency medicine practice.

Purpose: After a long period of low utilization, droperidol has become easier to obtain in the US market. This comprehensive review discusses the safety, indications, clinical efficacy, and dosing of droperidol for use in the emergency department (ED) setting.

Summary: In 2001 the US Food and Drug Administration (FDA) mandated a boxed warning in the labeling of droperidol after reports of QT interval prolongation associated with droperidol use.

Corrigendum to "Effectiveness and Safety of Oral Anticoagulants in Adults with Non-valvular Atrial Fibrillation Patients and Concomitant Coronary/Peripheral Artery Disease" American Journal of Medicine 131:09 (2018): 1074-1085.e4.

There were 33,269 apixaban-warfarin, 9,345 dabigatran-warfarin, and 42,156 rivaroxaban-warfarin matched pairs, with a median follow-up of 4-5 months. Compared with warfarin, apixaban was associated with lower rates of stroke/systemic embolism (hazard ratio [HR] 0.52; 95% confidence interval [95% CI], 0.

mTORC1 Enhances Early Phase Ribosome Processivity.

During translation elongation, the ribosome serially adds amino acids to a growing polypeptide over many rounds of catalysis. The ribosome remains bound to mRNAs over these multiple catalytic cycles, requiring high processivity. Despite its importance to translation, relatively little is known about how mRNA sequences or signaling pathways might enhance or reduce ribosome processivity.

Cost-Effectiveness of Extended and One-Time Screening Versus No Screening for Non-Valvular Atrial Fibrillation in the USA.

Background: There is limited evidence on the clinical and cost benefits of screening for atrial fibrillation (AF) with electrocardiogram (ECG) in asymptomatic adults.

Methods: We adapted a previously published Markov model to evaluate the clinical and economic impact of one-time screening for non-valvular AF (NVAF) with a single 12-lead ECG and a 14-day extended screening with a hand-held ECG device (Zenicor single-lead ECG, Z14) compared with no screening. Clinical events considered included ischemic stroke, systemic embolism, major bleeds, myocardial infarction, and death.