The global status of genetic counselors in 2023: What has changed in the past 5 years?

Purpose: The profession of genetic counselors has existed for over 50 years. This article provides an update on the global state of the genetic counseling (GC) profession in 2022 and 2023.

Methods: We used a survey approach to collect data from individuals who were identified as being leaders in GC practice and/or education around the world.

Long-Term Carotid Plaque Progression and the Role of Intraplaque Hemorrhage: Analysis from Deep Learning-based Longitudinal Vessel Wall Imaging.

Background: Carotid atherosclerosis is a major etiology of stroke. Although intraplaque hemorrhage (IPH) is known to increase stroke risk and plaque burden, its long-term effects on plaque dynamics remain unclear.

Objectives: This study aimed to evaluate the long-term impact of IPH on carotid plaque burden progression using deep learning-based segmentation on multi-contrast vessel wall imaging (VWI).

Prognostic factors in patients with gastrointestinal perforation under the acute care surgery model : a retrospective cohort study.

Background: Gastrointestinal perforation (GIP) is a life-threatening condition that necessitates immediate surgical intervention. This study aims to identify prognostic factors in patients with GIP treated within a standardized acute care surgery (ACS) framework.

Materials And Methods: This single center retrospective cohort study analyzed patients diagnosed with GIP who underwent emergent surgery and were admitted to the intensive care unit between January 2013 and March 2023.

Integration of bulk and single-cell RNA-seq reveals prognostic gene signatures in patients with bladder cancer treated with immune checkpoint inhibitors.

Immune checkpoint inhibitors have significantly advanced research in oncology and are used to successfully treat patients with bladder cancer (BC). However, as the benefits of programmed death-1/ programmed death-ligand-1 blockade immunotherapy do not extend to all patients with BC, biomarkers are required to improve prognostic stratification. This study aims to identify reliable biomarkers to enhance the prediction of treatment outcomes.

Prognostic impact of lymphovascular invasion in node-negative gastric cancer: a retrospective cohort study.

Background: Lymphovascular invasion (LVI) has been identified as a prognostic factor in various cancers, but its significance in node-negative gastric cancer remains unclear. Gastric cancer prognosis is notably affected by lymph node metastasis, with LVI potentially indicating metastatic spread.

Methods: A retrospective review was conducted on 5,699 patients who underwent curative radical gastrectomy for gastric cancer between 1989 and 2018.

Clinical importance of patient-reported outcome measures in severe asthma: results from U-BIOPRED.

Rationale: Knowledge about the clinical importance of patient-reported outcome measures (PROMs) in severe asthma is limited.

Objectives: To assess whether and to what extent asthma exacerbations affect changes in PROMS over time and asthma-specific PROMs can predict exacerbations in adult patients with severe asthma in usual care.

Methods: Data of 421 patients with severe asthma (62% female; mean age 51.

Injection of an allodermal matrix and leukocyte-rich platelet-rich plasma mixture improved the tendon integrity in cases of full-thickness common extensor tendon tears of the elbow: Two case reports.

Rationale: Lateral epicondylitis, commonly known as tennis elbow, is a chronic condition characterized by tendinosis at the insertion site of the lateral epicondyle. Various treatment methods are available, ranging from conservative to surgical options for refractory lateral epicondylitis. Recently, platelet-rich plasma (PRP) injections have shown effectiveness for treating this condition.

Evaluation of the efficacy and safety of controlled-release phentermine/topiramate in adults with obesity in Korea: A randomized, double-blind, placebo-controlled, phase 4 trial (QUEEN's study).

Aims: This study evaluated the efficacy and safety of a combination of phentermine and delayed-release topiramate (PHEN/TPM CR) versus placebo as an adjunct to standard lifestyle recommendations in Korean adults.

Materials And Methods: This 56-week, randomized, double-blind, placebo-controlled, phase 4 trial enrolled adults (age 19-70 years) with obesity (BMI ≥ 25 kg/m) at eight sites in South Korea. After a 12-week lifestyle programme, participants were randomly assigned in a 1:1 ratio to receive PHEN/TPM CR or placebo.

Unveiling the Potential of Natural Resources-Derived Therapeutics for Improved Malaria Management: Computational to Experimental Studies.

Malaria kills millions of people annually, and it is one of the major causes of preventable mortality in the world. Of the different plasmodium species that induce malaria, Plasmodium falciparum and Plasmodium vivax account for the most severe form of malarial disease in humans. This review focuses on understanding preventive measures, mutation-based disease evolution, malaria-related biomarkers, and potential plant bioactive components for the treatment and management of malaria.

Noninvasive Grading of Liver Fibrosis Based on Texture Analysis From MRI-Derived Radiomics.

Given the increasing global prevalence of metabolic syndrome, this study aimed to assess the potential of MRI-derived radiomics in noninvasively grading fibrosis. The study included 79 prospectively enrolled participants who had undergone MRE due to known or suspected liver disease between November 2022 and September 2023. Among them, 48 patients were diagnosed with histopathologically confirmed liver fibrosis.

Longer-term survival, quality of life, and cost-effectiveness of conservative versus liberal oxygenation targets in critically ill children: a pre-specified analysis from Oxy-PICU, a multicentre, open, parallel-group, randomised controlled trial.

Background: Peripheral oxygen saturation (SpO) above 94% is typical in children in paediatric intensive critical care units (PICUs) who are receiving invasive ventilation and supplemental oxygen. In a previous report from the Oxy-PICU trial, we showed that lower (conservative) oxygenation targets (SpO 88-92%) are beneficial, showing small but statistically significant differences in duration of organ support and large but non-significant cost reductions at 30 days. In this pre-specified analysis of the Oxy-PICU trial, we compare longer-term outcomes and cost-effectiveness of conservative versus liberal (SpO >94%) oxygenation targets in children with emergency PICU admission.

Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.

Complex direct and indirect relationships between multiple variables, termed higher order interactions (HOIs), are characteristics of all natural systems. Traditional differential and network analyses fail to account for the omic datasets richness and miss HOIs. We investigated peripheral blood DNA methylation data from Kabuki syndrome type 1 (KS1) and control individuals, identified 2,002 differentially methylated points (DMPs), and inferred 17 differentially methylated regions, which represent only 189 DMPs.

Platelet Count Normalization Following Romosozumab Treatment for Osteoporosis in Patient with Immune Thrombocytopenic Purpura: A Case Report and Literature Review.

Romosozumab, which is approved for the treatment of osteoporosis, has a dual-action mechanism that promotes bone formation and inhibits bone resorption. However, its association with an increased risk of major adverse cardiovascular events, as highlighted in the ARCH I study, raises concerns. The underlying pathophysiological mechanisms, possibly involving changes in platelet dynamics, are yet to be fully elucidated.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.

Prevalence and trends of cigarette smoking among adults with HIV infection compared with the general population in Korea.

Objectives: This study compared the current smoking prevalence among adults with human immunodeficiency virus (HIV) infection to that of the general Korean population and analyzed changes in smoking prevalence and cessation rates from 2009 to 2020.

Methods: The study included a total of 10,980 adults with HIV infection who underwent a health screening examination (National Health Insurance Service-National Health Information Database; NHIS-NHID), 1,230 individuals with HIV infection who participated in the Korea HIV/AIDS Cohort (KoCosHIV), and 76,783 participants from the Korea National Health and Nutrition Examination Survey (KNHANES). We estimated the current smoking prevalence and the quit ratio, defined as the ratio of former smokers to ever-smokers.

Prevention of ovarian hyperstimulation syndrome (OHSS): British Fertility Society policy and practice guideline.

This British Fertility Society (BFS) Policy and Practice guideline aims to support clinicians in preventing ovarian hyperstimulation syndrome (OHSS) in patients undergoing gonadotropin ovarian stimulation. A systematic literature search of the medical databases was performed. The Guideline Development Group (GDG) identified the risk factors of OHSS before and during ovarian stimulation.

Psychological Well-being Interactively Affected by Long Working Hours and Caregiving Activities.

Background: Long working hours and caregiving responsibilities are prevalent in many societies. These demands can lead to stress and adverse mental health outcomes. This study examines the associations of long working hours and family caregiving on psychological well-being and their interactions among South Korean wage workers.

Advancing immunosuppression in liver transplantation: the role of regulatory T cells in immune modulation and graft tolerance.

Prolonged immunosuppressive therapy in liver transplantation (LT) is associated with significant adverse effects, such as nephrotoxicity, metabolic complications, and heightened risk of infection or malignancy. Regulatory T cells (Tregs) represent a promising target for inducing immune tolerance in LT, with the potential to reduce or eliminate the need for life-long immunosuppression. This review summarizes current knowledge on the roles of Tregs in LT, highlighting their mechanisms and the impact of various immunosuppressive agents on Treg stability and function.

Cancer and Syria in conflict: a systematic review.

Background: Armed conflict can disrupt oncology care profoundly, resulting in worsened health outcomes for cancer patients. Syria has endured armed conflict for over a decade, resulting in a severe breakdown of its healthcare services. The aim of this systematic review was to assess the available evidence on the burden of cancer and oncology services in Syria and how they have been affected during the conflict.

Comprehensive Analysis of Neurologic Complications Following Transradial Cerebral Angiography.

Background And Purpose: Transradial access (TRA) for cerebral angiography has become more popular due to fewer complications and greater patient comfort compared to transfemoral access. However, the frequency and nature of neurologic complications linked to TRA remain unclear. This study aimed to determine the incidence of symptomatic neurologic complications after transradial cerebral angiography, identify risk factors, and characterize clinical and imaging features of these complications.