Graph convolution networks model identifies and quantifies gene and cancer specific transcriptome signatures of cancer driver events.

Background: The identification and drug targeting of cancer causing (driver) genetic alterations has seen immense improvement in recent years, with many new targeted therapies developed. However, identifying, prioritizing, and treating genetic alterations is insufficient for most cancer patients. Current clinical practices rely mainly on DNA level mutational analyses, which in many cases fail to identify treatable driver events.

Feasibility of a 4 French resuscitative endovascular balloon occlusion of the aorta (REBOA) device for nontraumatic cardiac arrest in a randomized controlled study using a large porcine model.

Aim: The objectives of this study were to assess the return of spontaneous circulation rates and hemodynamic response of large swine (>65Kg) during cardiopulmonary resuscitation after nontraumatic cardiac arrest using the COBRA-OS® aortic occlusion balloon and to address limitations of large swine closed-chest cardiopulmonary resuscitation by comparing closed-chest vs. open-chest cardiopulmonary resuscitation.

Methods: Yorkshire pigs ( = 10) weighing >65 kg were anesthetized and ventilated.

Cancer mutational signatures identification in clinical assays using neural embedding-based representations.

While mutational signatures provide a plethora of prognostic and therapeutic insights, their application in clinical-setting, targeted gene panels is extremely limited. We develop a mutational representation model (which learns and embeds specific mutation signature connections) that enables prediction of dominant signatures with only a few mutations. We predict the dominant signatures across more than 60,000 tumors with gene panels, delineating their landscape across different cancers.

Treatment of late-presenting malperfusion and aneurysmal degeneration in chronic type B aortic dissection with an off-the-shelf four-vessel inner-branched endograft.

Acute complicated type B aortic dissection is increasingly treated with endovascular techniques to manage contained rupture or end-organ malperfusion. Most cases of malperfusion occur during the acute phase of the dissection. We report a case of a patient treated for late presentation of lower body malperfusion 4 years after successful endovascular intervention for contained rupture of an acute type B dissection.

Computational characterization of recombinase circuits for periodic behaviors.

Recombinases are site-specific proteins found in nature that are capable of rearranging DNA. This function has made them promising gene editing tools in synthetic biology, as well as key elements in complex artificial gene circuits implementing Boolean logic. However, since DNA rearrangement is irreversible, it is still unclear how to use recombinases to build dynamic circuits like oscillators.

Shared Cancer Dataset Analysis Identifies and Predicts the Quantitative Effects of Pan-Cancer Somatic Driver Variants.

Unlabelled: Driver mutations endow tumors with selective advantages and produce an array of pathogenic effects. Determining the function of somatic variants is important for understanding cancer biology and identifying optimal therapies. Here, we compiled a shared dataset from several cancer genomic databases.

Gene therapy for hemophilia B using CB 2679d-GT: a novel factor IX variant with higher potency than factor IX Padua.

Sustained expression of therapeutic factor IX (FIX) levels has been achieved after adeno-associated viral (AAV) vector-based gene therapy in patients with hemophilia B. Nevertheless, patients are still at risk of vector dose-limiting toxicity, particularly liver inflammation, justifying the need for more efficient vectors and a lower dosing regimen. A novel increased potency FIX (designated as CB 2679d-GT), containing 3 amino acid substitutions (R318Y, R338E, T343R), significantly outperformed the R338L-Padua variant after gene therapy.

Sensitivity of a PER.C6® cell line to bis(2,4-di-tert-butylphenyl)phosphate and evaluation of a new, biocompatible single-use film.

Single-use technologies have brought numerous advantages to the biopharmaceutical industry. In particular, single-use bags made from multi-layered polymeric films have been adopted for cell culture and liquid handling operations in place of traditional stainless-steel systems. Despite the advantages, leachable compounds originating from the film's materials of construction present a new challenge.

In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in explain only part of LDL variability in an FH family.

We previously identified a highly consanguineous familial hypercholesterolemia (FH) family demonstrating segregation of the JD Bari mutation in the LDL receptor as well as a putative cholesterol-lowering trait. We aimed to identify genes related to the latter effect. LDL cholesterol (LDLc) values were normalized for FH affectation status, age, and gender.

Hybrid Arch Frozen Elephant Trunk for Persistent Endoleak After Thoracic Endovascular Aortic Repair.

Aneurysms of the distal aortic arch and proximal descending thoracic aorta remain challenging to treat. Whereas thoracic endovascular aortic repair (TEVAR) with arch debranching has provided a more minimally invasive option for patients with such aneurysms, recurrent type Ia endoleaks can be difficult or impossible to treat with further endovascular intervention. We report the successful use of a hybrid arch and frozen elephant trunk graft for the treatment of a patient with a recurrent type Ia endoleak after TEVAR and arch debranching.

Visual perspective during remembering: ERP evidence of familiarity-based source monitoring.

Autobiographical recollections are accompanied by visual perspectives that can be either a view through the person's own eyes (first-person) or a view that integrates visual characteristics of the rememberer into the reconstructed scene (third-person). Some have argued that a third-person perspective serves as a coping mechanism allowing the person to distance themselves from details of painful memories. The study reported here created first- and third-person memories in a novel experimental paradigm.

Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.

An Integrated HIV Risk Reduction Intervention for Women with a History of Intimate Partner Violence: Pilot Test Results.

There are few HIV risk reduction interventions to meet the unique needs of women who experience intimate partner violence (IPV). This pilot study tested the feasibility, safety, and preliminary effects of an integrated IPV-sexual risk reduction intervention for abused women. Fifty-five women were randomized to the supporting positive and healthy relationships (SUPPORT) intervention (n = 27) or to a control group (n = 28).

Performance of ultralow-dose CT with iterative reconstruction in lung cancer screening: limiting radiation exposure to the equivalent of conventional chest X-ray imaging.

Objective: To investigate the detection rate of pulmonary nodules in ultralow-dose CT acquisitions.

Materials And Methods: In this lung phantom study, 232 nodules (115 solid, 117 ground-glass) of different sizes were randomly distributed in a lung phantom in 60 different arrangements. Every arrangement was acquired once with standard radiation dose (100 kVp, 100 references mAs) and once with ultralow radiation dose (80 kVp, 6 mAs).

Autologous Pericardial Reconstruction of Ruptured Salmonella Mycotic Aortic Arch Aneurysm.

The primary goals of surgery for mycotic thoracic aortic aneurysms include control of sepsis, radical debridement of infected tissue, anatomic or extra-anatomic aortic reconstruction, and prevention of recurrent infection. Patients with Salmonella aortitis are a challenging subgroup of patients with aggressive infection and very poor prognosis, because bacterial eradication is difficult and risk of recurrent infection is high. We report the successful surgical management of a patient who presented with a ruptured Salmonella aortic arch aneurysm with extensive debridement and near circumferential autologous pericardial patch reconstruction of the aortic arch.

Lung nodule detection by microdose CT versus chest radiography (standard and dual-energy subtracted).

Objective: The purpose of this study was to investigate the feasibility of microdose CT using a comparable dose as for conventional chest radiographs in two planes including dual-energy subtraction for lung nodule assessment.

Materials And Methods: We investigated 65 chest phantoms with 141 lung nodules, using an anthropomorphic chest phantom with artificial lung nodules. Microdose CT parameters were 80 kV and 6 mAs, with pitch of 2.

Feasible Dose Reduction in Routine Chest Computed Tomography Maintaining Constant Image Quality Using the Last Three Scanner Generations: From Filtered Back Projection to Sinogram-affirmed Iterative Reconstruction and Impact of the Novel Fully Integrated Detector Design Minimizing Electronic Noise.

Objective: The aim of the present study was to evaluate a dose reduction in contrast-enhanced chest computed tomography (CT) by comparing the three latest generations of Siemens CT scanners used in clinical practice. We analyzed the amount of radiation used with filtered back projection (FBP) and an iterative reconstruction (IR) algorithm to yield the same image quality. Furthermore, the influence on the radiation dose of the most recent integrated circuit detector (ICD; Stellar detector, Siemens Healthcare, Erlangen, Germany) was investigated.

Determination of patient preference for location of elective abdominal aortic aneurysm surgery.

Objective: Aneurysm repair is centralized in higher volume centers resulting in reduced mortality, with longer travel distances. The purpose of this study is to explore patients' preference between local care versus longer distances and lower mortality rates.

Methods: Patients with abdominal aortic aneurysm (AAA) measuring 4 to 5 cm and living at least a 1-hour drive from our hospital were asked to assume it had grown to 5.

The illusion of fame: how the nonfamous become famous.

This article reports 2 experiments in which nonfamous faces were paired with famous (e.g., Oprah Winfrey) or semifamous (e.