Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation of cytogenetic abnormalities in solid tumors. Review and analyze 25 years (1999-2023) of solid tumor chromosome analysis PT results, utilizing G-banded karyograms. A retrospective review of results from 1999 to 2023 was performed, identifying the challenges addressing solid tumors.

Learning from over ten years of implementing the One Health approach in the Democratic Republic of Congo: A qualitative study.

Background: The Democratic Republic of Congo (DRC) has faced emerging infectious diseases such as Ebola, Mpox and Yellow fever, and antimicrobial resistance is a growing concern. To address these issues, in 2011 the country embarked on implementing the One Health (OH) approach at the national and provincial levels. This study investigates OH institutionalization and implementation in the DRC, describes the process of OH decentralization, and identifies the opportunities and challenges of sustaining these efforts.

Integrated surveillance systems for antibiotic resistance in a One Health context: a scoping review.

Background: Antibiotic resistance (ABR) has emerged as a major threat to health. Properly informed decisions to mitigate this threat require surveillance systems that integrate information on resistant bacteria and antibiotic use in humans, animals, and the environment, in line with the One Health concept. Despite a strong call for the implementation of such integrated surveillance systems, we still lack a comprehensive overview of existing organizational models for integrated surveillance of ABR.

ALK-rearranged, CD34-positive spindle cell neoplasms resembling dermatofibrosarcoma protuberans: a study of seven cases.

Aims: The majority of dermatofibrosarcoma protuberans (DFSP) harbour PDGFB or PDGFD rearrangements. We encountered ALK expression/rearrangement in a PDGFB/D-negative CD34-positive spindle cell neoplasm with features similar to DFSP, prompting evaluation of ALK-rearrangements in DFSP and plaque-like CD34-positive dermal fibroma (P-LDF).

Methods And Results: We searched the archives of academic institutions for cases previously coded as DFSP and P-LDF.

Conventional Cytogenetic Analysis of Constitutional Abnormalities: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Context.—: The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure competency and proficiency of clinical cytogenetics testing laboratories through proficiency testing programs for various clinical tests offered by such laboratories, including the evaluation of constitutional abnormalities.

Objective.

The effect of AZD9567 vs. prednisolone on glycaemic control in patients with type 2 diabetes mellitus: Results from a phase 2a clinical trial.

Aims: Corticosteroids are the treatment of choice for many inflammatory diseases but often lead to adverse effects, including hyperglycaemia. This study investigated the mechanisms driving differential effects on glucose control for AZD9567, an oral nonsteroidal selective glucocorticoid receptor modulator vs. prednisolone in 46 patients with type 2 diabetes mellitus.

A Single-Arm Phase 2 Trial of Trametinib in Patients with Locally Advanced or Metastatic Epithelioid Hemangioendothelioma.

Purpose: Epithelioid hemangioendothelioma (EHE) is a rare vascular cancer with pathogenic TAZ-CAMTA1 (calmodulinbinding transcription activator 1) operating as an oncogenic driver through activation of the MAPK pathway. Trametinib is an inhibitor of MEK, a critical kinase in the MAPK pathway. We sought to evaluate the effect of trametinib in patients with EHE.

AZD9567 versus prednisolone in patients with active rheumatoid arthritis: A phase IIa, randomized, double-blind, efficacy, and safety study.

Oral corticosteroid use is limited by side effects, some caused by off-target actions on the mineralocorticoid receptor that disrupt electrolyte balance. AZD9567 is a selective, nonsteroidal glucocorticoid receptor modulator. The efficacy, safety, and tolerability of AZD9567 and prednisolone were assessed in a phase IIa study.

Systems Thinking and Complexity Science Methods and the Policy Process in Non-communicable Disease Prevention: A Systematic Scoping Review.

Background: Given the complex determinants of non-communicable diseases (NCDs), and the dynamic policy landscape, researchers and policymakers are exploring the use of systems thinking and complexity science (STCS) in developing effective policies. The aim of this review is to systematically identify and analyse existing applications of STCS-informed methods in NCD prevention policy.

Methods: Systematic scoping review: We searched academic databases (Medline, Scopus, Web of Science, EMBASE) for all publications indexed by 13 October 2020, screening titles, abstracts and full texts and extracting data according to published guidelines.

Public awareness of One Health in China.

One Health is recognized as an increasingly important approach to global health. It has the potential to inform interventions and governance approaches to prevent future pandemics. Successfully implementing the One Health approach in policy will require active engagement from the public, which begs the question: how aware is the public of One Health? In this study, we examine the level and distribution of One Health awareness among the general public in China using a survey conducted in Beijing ( = 1820).

Novel NONO::TFE3 fusion and ALK co-expression identified in a subset of cutaneous microcystic/reticular schwannoma.

Microcystic/reticular schwannoma (MRS) is a benign variant of schwannoma with a predilection for the gastrointestinal tract and skin. To date, genetic characterization of this tumor is limited. Prompted by the identification of TFE3::NONO fusion and ALK overexpression in an index case of MRS, a cohort of tumors was collected from institutional and consultation archives of two institutions.

Unique case of a amplified biphasic mesenchymal tumor of the orbit.

-altered mesenchymal tumors are an emerging entity in soft tissue pathology. In the head and neck region, they are most commonly in the tongue. Limited published data indicate a propensity for local recurrence, regional spread, and distant metastasis in both -rearranged and -amplified tumors.

HER2 IHC Expression and Gene Amplification in p53-aberrant High-grade Endometrial Endometrioid Carcinoma Suggests That This Population May Benefit From HER2 Testing and Targeted Therapy.

Among gynecologic cancers, uterine serous carcinoma (USC) has been shown to be human epidermal growth factor receptor 2 (HER2) amplified and trastuzumab has been included in the recent National Comprehensive Cancer Network (NCCN) guidelines for treatment of advanced stage or recurrent USC with HER2 overexpression/amplification. There is limited literature suggesting that a subset of high-grade endometrioid carcinomas with aberrant p53 expression may also be HER2 amplified and these patients could benefit from the addition of targeted therapy. We identified 59 p53-aberrant (mismatch repair proficient) FIGO 3 endometrioid carcinomas of the uterus.

Combined utility of p16 and BRAF V600E in the evaluation of spitzoid tumors: Superiority to PRAME and correlation with FISH.

Background: Spitzoid melanocytic neoplasms are diagnostically challenging; criteria for malignancy continue to evolve. The ability to predict chromosomal abnormalities with immunohistochemistry (IHC) could help select cases requiring chromosomal evaluation.

Methods: Fluorescence in situ hybridization (FISH)-tested spitzoid neoplasms at our institution (2013-2021) were reviewed.

Making integration foundational in population health intervention research: why we need 'Work Package Zero'.

Objectives: We aimed to identify when and how integration should take place within evaluations of complex population health interventions (PHIs).

Study Design: Descriptive analytical approach.

Methods: We draw on conceptual insights that emerged through (1) a working group on integration and (2) a diverse range of literature on case studies, small-n evaluations and mixed methods evaluation studies.

The absolute risk of incident type 2 diabetes following exposure to systemic corticosteroids in selected steroid-related and phenotypic groups.

Aims: Exposure to corticosteroids is known to increase the risk of developing type 2 diabetes. We estimated the risk of incident type 2 diabetes in selected patient groups exposed to systemic corticosteroids.

Materials And Methods: In a retrospective, observational cohort study, using real-world data from UK primary care, patients were selected who had at least one episode of exposure to oral or intravenous corticosteroids for any indication.

Principles and methods of global legal epidemiology.

Although the theory and methods of legal epidemiology-the scientific study and deployment of law as a factor in the cause, distribution, and prevention of disease and injury in a population-have been well developed in the context of domestic law, the challenges posed by shifting the frame of analysis to the global legal space have not yet been fully explored. While legal epidemiology rests on the foundational principles that law acts as an intervention, that law can be an object of scientific study and that law has impacts that should be evaluated, its application to the global level requires the recognition that international laws, policies and norms can cause effects independently from their legal implementation within countries. The global legal space blurs distinctions between 'hard' and 'soft' law, often operating through pathways of global agenda setting, legal language, political pressures, social mobilisation and trade pressures to have direct impacts on people, places and products.

Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders.

This document was retired by the American College of Medical Genetics and Genomics (ACMG) Board of Directors as of May 20, 2019 with the following addendum.

A Model for Design and Implementation of a Laboratory Information-Management System Specific for Molecular Pathology Laboratory Operations.

The Molecular Pathology Section, Cleveland Clinic (Cleveland, OH), has undergone enhancement of its testing portfolio and processes. An Excel 2013- and paper-based data-management system was replaced with a commercially available laboratory information-management system (LIMS) software application, a separate bioinformatics platform, customized test-interpretation applications, a dedicated sample-accessioning service, and a results-releasing software application. The customized LIMS solution manages complex workflows, large-scale data packets, and process automation.

The novel bronchodilator navafenterol: a phase 2a, multicentre, randomised, double-blind, placebo-controlled crossover trial in COPD.

Background: Navafenterol (AZD8871) belongs to a new class of bronchodilator, the single-molecule muscarinic antagonist and β-agonist, developed for the treatment of COPD. This study aimed to evaluate the efficacy, pharmacokinetics and safety of navafenterol placebo and an active comparator treatment for moderate-to-severe COPD.

Methods: This phase 2a, randomised, multicentre (Germany and UK), double-blind, double-dummy, three-way complete crossover study (ClinicalTrials.

MDM2 amplification in malignant Brenner tumors may play a role in progression to malignancy and aid in separation from urothelial and other ovarian carcinomas.

Malignant Brenner tumor (MBT) is diagnosed in the setting of invasive high-grade carcinoma with urothelial-like morphology and the presence of an adjacent benign Brenner tumor (BBT) or borderline Brenner tumor (BLBT). MDM2 amplification was recently detected by next-generation sequencing on a small number of MBTs, potentially significant for future targeted therapy. Experience is limited, however, and evaluation of widely available MDM2 immunohistochemistry (IHC) has not been performed to determine clinical utility.

An exploration of how meal preparation activities relate to self-rated time pressure, stress, and health in Canada: A time use approach.

While previous work has provided a foundation for understanding the importance of the links between time use and diet, there has been little done to link time use to health outcomes. In this study, time use and self-rated health variables from the 2015 Time Use Cycle of Statistics Canada's General Social Survey are used to explore whether there are direct associations between time spent on meal preparation and health for Canadian Adults. In addition, this paper uses respondents' sequences of activities data from a time use diary to provide novel findings about the context of activities that precede and follow meal preparation.