Overall survival of patients with KIT-mutant metastatic GIST in the era of multiple kinase inhibitor availability.

Purpose: The prognosis of patients with metastatic GIST and imatinib-sensitive primary mutations has significantly improved. However, limited data are available to inform patients about outcomes across different lines of treatment. This retrospective analysis aims to evaluate patient outcomes at a large German GIST referral center over the past 15 years.

Rapid Effects of MDMA Administration on Self-Reported Personality Traits and Affect State: A Randomized, Placebo-Controlled Trial in Healthy Adults.

3,4-methylenedioxymethamphetamine (MDMA) assisted therapy has been shown to be a safe and effective treatment for PTSD and emerging research suggests a change in personality traits may be a factor in treatment response. Most prior research on MDMA and personality has focused on cross-sectional comparisons of MDMA users and non-users; as such, well-controlled research assessing personality and affective states following MDMA vs placebo administration is needed. In the current pre-registered study, we investigated the impact of MDMA administration on five-factor model (FFM) traits and affective states before and 48 h after drug administration in a randomized, placebo-controlled study of healthy adults ( = 34).

Perceived Conjunctival Foreign Material Egress in Morgellons Disease: A Case Study.

The purpose of this report is to present a case of a 63-year-old man with orbital Morgellons disease. A 63-year-old man presented reporting 15 years of daily egress of different foreign bodies apparently found in the superior fornices of both eyes, exhibiting a classic manifestation known as the matchbox sign. He described the symptoms starting after a facial trauma.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM.

A randomized controlled trial of 3,4-methylenedioxymethamphetamine (MDMA) and fear extinction retention in healthy adults.

Background: Fear conditioning and extinction are well-characterized cross-species models of fear-related posttraumatic stress disorder (PTSD) symptoms, and recent animal data suggest that 3,4-methylenedioxymethamphetamine (MDMA) enhances fear extinction retention.

Aims: This study investigated the effect of MDMA on fear learning, extinction training, and retention in healthy humans.

Methods: The study involved a randomized placebo-controlled, two-group, parallel design trial in a sample of healthy adults, age 21-55 recruited from a major metropolitan area.

Invasive hemodynamics are equivocal for functional outcomes after MitraClip.

Objectives: To evaluate invasive hemodynamics in assessing MC therapy success as well as evaluate its effectiveness as a predictor of functional outcomes.

Background: Mitral regurgitation grade is a poor predictor of functional outcomes after a MitraClip. There is a paucity of data on invasive hemodynamics as a predictor of outcomes.

Psychedelics and Psychedelic-Assisted Psychotherapy.

(Reprinted with permission from 2020; 177:391-410).

Translational Read-Through Therapy of Nonsense Mutations.

X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator () gene. We evaluated the potential of PTC124 (Ataluren, Translama) treatment to promote ribosomal read-through of premature termination codons (PTC) in . Expression constructs in HEK293T cells showed that the efficacy of read-through reagents is higher for UGA than UAA PTCs.

Rate and predictors of disengagement in an early psychosis program with time limited intensification of treatment.

Background: Service disengagement is a frequent problem in early intervention in psychosis. The goal of this study was to evaluate the rate and variables associated with service disengagement in a three year specialized program that allows treatment intensification on a case to case basis.

Methods: 328 early psychosis patients were assessed at baseline on a large set of socio-demographic and clinical variables and were followed-up over 36 months.

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 () gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). To date, while no treatment exists a better understanding of BEST1-related pathogenesis may help to define therapeutic targets. Here, we systematically characterize functional consequences of mutant BEST1 in thirteen RPE patient cell lines differentiated from human induced pluripotent stem cells (hiPSCs).

Psychedelics and Psychedelic-Assisted Psychotherapy.

Objective: The authors provide an evidenced-based summary of the literature on the clinical application of psychedelic drugs in psychiatric disorders.

Methods: Searches of PubMed and PsycINFO via Ovid were conducted for articles in English, in peer-reviewed journals, reporting on "psilocybin," "lysergic acid diethylamide," "LSD," "ayahuasca," "-methylenedioxymethamphetamine," and "MDMA," in human subjects, published between 2007 and July 1, 2019. A total of 1,603 articles were identified and screened.

3-Dimensional printing to predict paravalvular regurgitation after transcatheter aortic valve replacement.

Background: There is no effective method to predict paravalvular regurgitation prior to transcatheter aortic valve replacement (TAVR).

Methods: We retrospectively analyzed pre-TAVR computed tomography (CT) scans of 20 patients who underwent TAVR for severe, calcific aortic stenosis and subsequently printed 3-dimensional (3D) aortic root models of each patient. Models were printed using Ninjaflex thermoplastic polyurethane (TPU) (Ninjatek Manheim, PA) and TPU 95A (Ultimaker, Netherlands) on Ultimaker 3 Extended 3D printer (Ultimaker, Netherlands).

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene defect is unknown.

Acoustic remote sensing for source localization and atmospheric tomography: Applications of the cross-correlation Green's function retrieval method.

In this work, the application of the cross-correlation Green's function retrieval method for source localization and atmospheric acoustic tomography is presented. Open field experimental measurements of an acoustic source, with an impulsive waveform, are conducted for the evaluation of an array system. Of particular interest are the source localization and sound speed estimation capabilities of the array system.

Brain mechanisms of stress and depression in coronary artery disease.

Introduction: Major depression is associated with an increased risk for and mortality from coronary artery disease (CAD), however the mechanisms by which this occurs are not clear. Depression, which is linked to stress, is associated with changes in brain areas involved in memory and the stress response, and it is likely that these regions play an important role in this increased risk. This study assessed the effects of stress on brain and cardiac function in patients with CAD with and without depression.

Green's function extraction by crosscorrelation and multidimensional deconvolution for outdoor sound propagation.

In this work, the Green's function is estimated from outdoor measurements of controlled-sources. Crosscorrelation and multidimensional deconvolution have successfully been employed for Green's function retrieval. Crosscorrelation assumes a lossless medium and equipartitioned wavefield; when these assumptions are not satisfied it may result in a Green's function smeared with the source point-spread function.

Brain correlates of stress-induced peripheral vasoconstriction in patients with cardiovascular disease.

The influence of acute psychological stress on cardiovascular disease is an emerging public health concern. Identification of brain mechanisms underlying this may aid in the discovery of possible treatments. Acute psychological stress may induce arteriolar vasoconstriction and reduce blood flow to vital organs.

Validation of STS/ACC TVT-TAVR Score in Veterans Undergoing Transcatheter Aortic Valve Replacement.

Background: The Society of Thoracic Surgeons (STS)/American College of Cardiology (ACC) transcatheter valve therapy (TVT) transcatheter aortic valve replacement (TAVR) score was developed to predict in-hospital mortality in patients undergoing commercial TAVR in the United States. Veterans Affairs (VA) hospitals are not included in the TVT registry.

Methods: The STS/ACC TVT-TAVR score was estimated in 195 veterans undergoing TAVR from 2015-2017.

Transcatheter Aortic Valve Replacement Improves Health Status in Elderly Veterans.

Background: United States veterans have substantially worse baseline health status than the general population, which may limit the health benefits of transcatheter aortic valve replacement (TAVR). The aim of this study is to quantify the health benefits of TAVR in veterans undergoing the procedure within the United States Department of Veterans Affairs (VA) health-care system.

Methods: We prospectively evaluated heath status in 131 elderly veterans undergoing TAVR in the VA healthcare system between 2015 and 2017.

Blood pressure safety of subanesthetic ketamine for depression: A report on 684 infusions.

Background: The dissociative anesthetic agent ketamine is increasingly being utilized to treat depression, despite not having FDA (Food and Drug Administration) approval for this indication. There are many questions about the potential risks of this treatment and hence the proper setting and degree of monitoring required to ensure patient safety. There is limited data about the cardiovascular safety of ketamine when administered at subanesthetic doses to treat depression.