Prostate Cancer Therapy Cardiotoxicity Map (PROXMAP) for Advanced Disease States: A Systematic Review and Network Meta-analysis with Bayesian Modeling of Treatment Histories.

Background And Objective: Recommendations of first-line therapies for metastatic hormone-sensitive (mHSPC), nonmetastatic castrate-resistant (M0CRPC), and metastatic castrate-resistant (mCRPC) prostate cancer do not account for cardiotoxicity due to a lack of clear prior evidence. This manuscript assesses cardiotoxicity of these therapies.

Methods: We searched Ovid Medline, Elsevier Embase, and the Cochrane Library for randomized clinical trials (RCTs) from database inception to January 14, 2024.

Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness.

Background: The present study aimed to test the hypothesis stating that the cognitive potential of individuals with deafblindness is equal to those without a deafblind condition, an assumption that until now has been empirically unsubstantiated within the field of deafblindness.

Methods: To explore the assumption, 15 children and adolescents with CHARGE underwent cognitive assessment with WISC-V using a sequential two-level assessment design. The 1st level involved standardized test conditions.

Comprehensive characterization of patient-derived xenograft models of pediatric leukemia.

Patient-derived xenografts (PDX) remain valuable models for understanding the biology and for developing novel therapeutics. To expand current PDX models of childhood leukemia, we have developed new PDX models from Hispanic patients, a subgroup with a poorer overall outcome. Of 117 primary leukemia samples obtained, successful engraftment and serial passage in mice were achieved in 82 samples (70%).

Intronic Germline Variants in Patients With Sertoli-Leydig Cell Tumor.

Germline pathogenic loss-of-function (pLOF) variants in are associated with a predisposition for a variety of solid neoplasms, including pleuropulmonary blastoma and Sertoli-Leydig cell tumor (SLCT). The most common pLOF variants include small insertions or deletions leading to frameshifts, and base substitutions leading to nonsense codons or altered splice sites. Larger deletions and pathogenic missense variants occur less frequently.

Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model.

Purpose: To identify possible predictors of executive functions of individuals with CHARGE syndrome, as these will be important targets for interventions.

Methods: A population-based cross-sectional study investigating the executive functions of a representative sample of 35 Norwegians with CHARGE syndrome divided into two subgroups to handle their inherent heterogeneity. Both performance-based measures and rating scale findings were included and organized according to the 3-factor model of Miyake and colleagues.

The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome.

Aim: This paper aimed to answer how psychometric methods based on neurotypical populations can serve as valid instruments in the assessment and diagnosis of intellectual disability in individuals with atypical development. The genetic, structural, and functional features of CHARGE make it uniquely suited to address this question.

Method: A Norwegian population of individuals with CHARGE ( = 35) underwent assessment procedures according to DSM-5 guidelines for the evaluation of an intellectual disability diagnosis.

Study protocol for a multicentre comparative diagnostic accuracy study of tools to establish the presence and severity of peripheral arterial disease in people with diabetes mellitus: the DM PAD study.

Introduction: Peripheral arterial disease (PAD) is a key risk factor for cardiovascular disease, foot ulceration and lower limb amputation in people with diabetes. Early diagnosis of PAD can enable optimisation of therapies to manage these risks. Its diagnosis is fundamental, though challenging in the context of diabetes.

Ultrasound screening for abdominal aortic aneurysm in high-risk women.

Background: Population-wide ultrasound screening programmes for abdominal aortic aneurysm (AAA) for men have already been established in some countries. Women account for one third of aneurysm-related mortality and are four times more likely to experience an AAA rupture than men. Whole-population screening for AAA in women is unlikely to be clinically or economically effective.

Behavioral, Physiological, and Neural Signatures of Surprise during Naturalistic Sports Viewing.

Surprise signals a discrepancy between past and current beliefs. It is theorized to be linked to affective experiences, the creation of particularly resilient memories, and segmentation of the flow of experience into discrete perceived events. However, the ability to precisely measure naturalistic surprise has remained elusive.

The development of an educational checklist for individuals with CHARGE syndrome.

CHARGE syndrome is a rare genetic disorder which can impact every sensory system and is often associated with significant medical, communicative, developmental, and behavioral difficulties. Due to the rarity and complexity of CHARGE syndrome, educators often lack the expertise required to effectively understand and accommodate the needs of these students. Therefore, an educational checklist (i.

Improving Metadata Infrastructure for Complex Surveys: Insights from the Fragile Families Challenge.

Researchers rely on metadata systems to prepare data for analysis. As the complexity of data sets increases and the breadth of data analysis practices grow, existing metadata systems can limit the efficiency and quality of data preparation. This article describes the redesign of a metadata system supporting the Fragile Families and Child Wellbeing Study on the basis of the experiences of participants in the Fragile Families Challenge.

Identifying pain in children with CHARGE syndrome.

Background and aims The objective was to conduct the first investigation to identify the frequency and intensity of pain experiences for individuals with CHARGE syndrome and to review the use of two established non-vocal pain assessments with children with CHARGE, the NCCPC-R (Non-Communicating Children's Pain Checklist-Revised) and the PPP (Pediatrics Pain Profile). Methods Parents of children with CHARGE were enrolled. Participants completed a pain questionnaire and the NCCPC-R and PPP twice, once for a baseline measure and second during a painful experience for their child.

Behavior in CHARGE syndrome.

Unusual behavior is often associated with genetic syndromes, and may constitute a behavioral phenotype. In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalities that raise the question of common sources for these behaviors.

Cardiovascular magnetic resonance-GUIDEd management of mild to moderate left ventricular systolic dysfunction (CMR GUIDE): Study protocol for a randomized controlled trial.

Background: The majority of sudden cardiac death (SCD) in patients with heart failure occurs in those with mild-moderate left ventricular (LV) systolic dysfunction (LVEF 36-50%) who under current guidelines are ineligible for primary prevention implantable cardiac defibrillator (ICD) therapy. Recent data suggest that cardiac magnetic resonance (CMR) evidence of replacement fibrosis forms a substrate for malignant arrhythmia and therefore potentially identifies a subgroup at increased risk of SCD. Our hypothesis is that among patients with mild-moderate LV systolic dysfunction, a CMR-guided management strategy for ICD insertion based on the presence of scar or fibrosis is superior to a current strategy of standard care.

Social-Emotional Development in Children and Youth Who Are Deafblind.

Social-emotional development is important to personal adjustment and well-being. Little has been written about social-emotional development in children and youth who are deafblind. The authors discuss factors in typical social-emotional development-attachment, empathy, and friendships-and how they may be challenged in children who are deaf-blind.

P2Y12 Inhibitor Pre-Treatment in Non-ST-Elevation Acute Coronary Syndrome: A Decision-Analytic Model.

Current guidelines recommend initiation of a P2Y12 inhibitor for all patients with non-ST-elevation acute coronary syndrome (NSTE-ACS) at the time of diagnosis (pre-treatment); however, there are no randomized trials directly comparing pre-treatment with initiation at the time of angiography to support this practice. We explore clinical and institutional parameters potentially associated with benefit with this strategy in a decision-analytic model based on available evidence from randomised trials. A decision analysis model was constructed comparing three P2Y12 inhibitors in addition to aspirin in patients with NSTE-ACS.

Quality of life in adolescents and adults with CHARGE syndrome.

Health-related Quality of Life and the Impact of Childhood Neurologic Disability Scale were collected for 53 patients with CHARGE syndrome aged 13-39 years with a mean academic level of 4th grade. The most prevalent new and ongoing issues included bone health issues, sleep apnea, retinal detachment, anxiety, and aggression. Sleep issues were significantly correlated with anxiety, self-abuse, conduct problems, and autistic-like behaviors.

The impact of atrial fibrillation type on the risk of thromboembolism, mortality, and bleeding: a systematic review and meta-analysis.

Aims: Thromboembolic risk stratification schemes and clinical guidelines for atrial fibrillation (AF) regard risk as independent of classification into paroxysmal (PAF) and non-paroxysmal atrial fibrillation (NPAF). The aim of the current study was to conduct a systematic review evaluating the impact of AF type on thromboembolism, bleeding, and mortality.

Methods And Results: PubMed was searched through 27 November 2014 for randomized controlled trials, cohort studies, and case series reporting prospectively collected clinical outcomes stratified by AF type.

CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping.

TaqMan™ genotyping assays are widely used to genotype CYP2D6, which encodes a major drug metabolizing enzyme. Assay design for CYP2D6 can be challenging owing to the presence of two pseudogenes, CYP2D7 and CYP2D8, structural and copy number variation and numerous single nucleotide polymorphisms (SNPs) some of which reflect the wild-type sequence of the CYP2D7 pseudogene. The aim of this study was to identify the mechanism causing false-positive CYP2D6 (*) 15 calls and remediate those by redesigning and validating alternative TaqMan genotype assays.

12th International CHARGE syndrome conference proceedings.

The CHARGE Syndrome Foundation holds an International conference for families and professionals every other summer. In July, 2015, the 12th meeting was held in Schaumburg, Illinois, at the Renaissance Schaumburg Hotel. Day one of the 4-day conference was dedicated to professionals caring for and researching various aspects of CHARGE, including education, medical management, animal models, and stem cell-based approaches to understanding and treating individuals with CHARGE.

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results.