Investigating genetic drivers of dermatomyositis pathogenesis using meta-analysis.

Aims: Dermatomyositis (DM) is a progressive, idiopathic inflammatory myopathy with poorly understood pathogenesis. A hallmark of DM is an increased risk for developing breast, ovarian, and lung cancer. Since autoantibodies against anti-TIF-1-γ, a member of the tripartite motif (TRIM) proteins, has a strong association with malignancy, we examined expression of the TRIM gene family to identify pathways that may be contributing to DM pathogenesis.

A randomized clinical trial of a virtual-training program for teaching applied-behavior-analysis skills to parents of children with autism spectrum disorder.

Parents play an important role in the treatment of their children's symptoms of autism spectrum disorder (ASD); thus, developing effective, efficient, socially acceptable, and accessible procedures for training parents to implement applied-behavior-analysis (ABA) interventions is critically important. One potential approach involves delivering training via a virtual private network (VPN) over the internet (Fisher et al., 2014).

Characterization of Clinical Cases of Malignant PEComa via Comprehensive Genomic Profiling of DNA and RNA.

Purpose: Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal soft tissue neoplasm often linked to mTOR pathway activation via TSC2 mutation. We analyzed a series of 31 consecutive metastatic PEComa (mPEComa) cases using a combined DNA/RNA hybrid capture-based comprehensive genomic profiling (CGP) assay to assess the genomic landscape of mPEComa.

Patients And Methods: Formalin-fixed, paraffin-embedded (FFPE) blocks or slides were obtained from tumors from 31 unique patients with mPEC-oma.

Artificial intelligence for the detection of COVID-19 pneumonia on chest CT using multinational datasets.

Chest CT is emerging as a valuable diagnostic tool for clinical management of COVID-19 associated lung disease. Artificial intelligence (AI) has the potential to aid in rapid evaluation of CT scans for differentiation of COVID-19 findings from other clinical entities. Here we show that a series of deep learning algorithms, trained in a diverse multinational cohort of 1280 patients to localize parietal pleura/lung parenchyma followed by classification of COVID-19 pneumonia, can achieve up to 90.

Cause of death in adults with Down syndrome in the United States.

Background: Prior studies report anomalous cause of death patterns for adults with Down syndrome, but do not provide comparison of age trends for specific causes of death between adults with and without Down syndrome, or explore biological sex and racial-ethnic differences in causes of death among adults with Down syndrome.

Objective: To better understand cause of death trends for adults, age 18 and over, with Down syndrome.

Methods: Cross-sectional data were from the 2013-2017 US Multiple Cause of Death Mortality files.

New York Transplant Teams Versus COVID-19.

New York State, and especially New York City, were hit hard by the coronavirus disease 2019 (COVID-19) virus. While we followed its course in other parts of the world, and began preparations, there was no way we could have been prepared for the volume and severity of illness that began to overflow in our emergency departments and hospital units. We expanded intensive care units into our medical surgical units while turning conference rooms into medical surgical patient care areas.

Validity of the ADHD module of the Mini International Neuropsychiatric Interview PLUS for screening of adult ADHD in treatment seeking substance use disorder patients: ADHD screening with MINI-Plus.

Objective: This study aims to assess the validity of the ADHD module of the Mini-International Neuropsychiatric Interview (MINI-Plus) in patients with substance use disorders (SUD), using the Conners' Adult ADHD Diagnostic Interview for DSM-IV (CAADID) as the external criterion.

Method: A cross sectional international multi-center study in 10 countries was conducted in treatment seeking SUD patients. A sample of 1263 patients with both MINI-Plus and CAADID was analyzed to determine the psychometric properties of the MINI-Plus.

Atrial fibrillation source area probability mapping using electrogram patterns of multipole catheters.

Background: Catheter ablation therapy involving isolation of pulmonary veins (PVs) from the left atrium is performed to terminate atrial fibrillation (AF). Unfortunately, standalone PV isolation procedure has shown to be a suboptimal success with AF continuation or recurrence. One reason, especially in patients with persistent or high-burden paroxysmal AF, is known to be due to the formation of repeating-pattern AF sources with a meandering core inside the atria.

Quantitative Characterization of the Prostatic Urethra Using MRI: Implications for Lower Urinary Tract Symptoms in Patients with Benign Prostatic Hyperplasia.

Introduction: The aim of this study was to perform a quantitative assessment of the prostate anatomy with a focus on the relation of prostatic urethral anatomic variation to urinary symptoms.

Methods: This retrospective study involved patients undergoing magnetic resonance imaging for prostate cancer who were also assessed for lower urinary tract symptoms. Volumetric segmentations were utilized to derive the in vivo prostatic urethral length and urethral trajectory in coronal and sagittal planes using a piece-wise cubic spline function to derive the angle of the urethra within the prostate.

Incidence and Early Course of Retinopathy of Prematurity.

In the Multicenter Trial of Cryotherapy for Retinopathy of Prematurity (ROP), 4099 infants weighing less than 1251 g at birth underwent sequential ophthalmic examinations, beginning at age 4 to 6 weeks, to monitor the incidence and course of ROP. Overall, 65.8% of the infants developed ROP to some degree; 81.

Urothelial cancer harbours EGFR and HER2 amplifications and exon 20 insertions.

Objective: To review the genomic landscape of advanced urothelial carcinoma (UC) to assess the frequencies of EGFR and ERBB2 (HER2) alterations.

Materials And Methods: Tumour specimens from 3753 patients with advanced UC were assayed with hybrid capture-based comprehensive genomic profiling of 180-395 genes. Tumour mutational burden (TMB) was assessed on 0.

Selection design phase II trial of high dosages of tamoxifen and creatine in amyotrophic lateral sclerosis.

: To conduct a phase-II trial using a ranking and selection paradigm where multiple treatments are compared with limited sample size and the best is chosen for a subsequent efficacy trial versus placebo. This strategy can find an effective treatment faster than traditional strategy of conducting larger trials against placebo. : Sixty amyotrophic lateral sclerosis (ALS) participants were randomized 1:1:1 to creatine 30 g/day (CRE), tamoxifen 40 mg/day (T40), or tamoxifen 80 mg/day (T80), with matching placebo.

Ophthalmic Manifestations of Posterior Reversible Encephalopathy Syndrome.

Posterior reversible encephalopathy syndrome (PRES) is a condition of neurotoxicity that presents with a sudden onset of symptoms including headache, altered mental status, seizures, and visual disturbances. Monitoring visual symptoms in PRES is critical as visual deficits are found in nearly 40% of patients.  This paper aims to identify the visual symptoms associated with PRES and determine visual outcomes following treatment.

Outcomes of Vocal Fold Motion Impairment and Dysphagia after Pediatric Cardiothoracic Surgery: A Systematic Review.

Objective: The objective of this study was to systematically review the literature regarding vocal fold motion impairment (VFMI), respiratory outcomes, and swallowing outcomes in children following congenital heart surgery (CHS).

Data Sources: PubMed, Embase, Medline, and CINAHL databases.

Review Methods: Data sources were searched from inception to November 30, 2018.

Locating Atrial Fibrillation Rotor and Focal Sources Using Iterative Navigation of Multipole Diagnostic Catheters.

Purpose: Multi-polar diagnostic catheters are used to construct the 3D electro-anatomic mapping of the atrium during atrial fibrillation (AF) ablation procedures; however, it remains unclear how to use the electrograms recorded by these catheters to locate AF-driving sites known as focal and rotor source types. The purpose of this study is to present the first algorithm to iteratively navigate a circular multi-polar catheter to locate AF focal and rotor sources without the need to map the entire atria.

Methods: Starting from an initial location, the algorithm, which was blinded to the location and type of the AF source, iteratively advanced a Lasso catheter based on its electrogram characteristics.

Iterative navigation of multipole diagnostic catheters to locate repeating-pattern atrial fibrillation drivers.

Introduction: Targeting repeating-pattern atrial fibrillation (AF) sources (reentry or focal drivers) can help in patient-specific ablation therapy for AF; however, the development of reliable and accurate tools for locating such sources remains a major challenge. We describe iterative catheter navigation (ICAN) algorithm to locate AF drivers using a conventional circular Lasso catheter.

Methods And Results: At each step, the algorithm analyzes 10 bipolar electrograms recoded at a given catheter location and the history of previous catheter movements to determine if the source is inside the catheter loop.

Post-malaria neurological syndrome: a rare neurological complication of malaria.

Background: Post-malaria neurological syndrome (PMNS) is a rare self-limiting neurological complication that can occur after recovery from malaria, usually severe falciparum malaria. It is characterized by a myriad of neuropsychiatric manifestations including mild neurological deficit to severe encephalopathy. PMNS was first described in 1996 and since then there have been 48 cases reported in the English literature.