Duodromic atrioventricular reentry tachycardia: a case report of a rare adenosine insensitive supraventricular tachycardia.

Background: Accessory pathways (AP) are associated with an increased risk of atrioventricular reentry tachycardia (AVRT), presenting as a wide QRS tachycardia if the mechanism is antidromic. Rarely, AVRT may not respond to adenosine, suggesting a duodromic mechanism if the patient has multiple APs. Herein, we present a case of a male patient with multiple APs, wide QRS complex tachycardia, and resistance to adenosine.

Rapid and quantitative functional interrogation of human enhancer variant activity in live mice.

Functional analysis of non-coding variants associated with congenital disorders remains challenging due to the lack of efficient in vivo models. Here we introduce dual-enSERT, a robust Cas9-based two-color fluorescent reporter system which enables rapid, quantitative comparison of enhancer allele activities in live mice in less than two weeks. We use this technology to examine and measure the gain- and loss-of-function effects of enhancer variants previously linked to limb polydactyly, autism spectrum disorder, and craniofacial malformation.

Moving Toward Meaningful Evaluations of Monitoring in e-Mental Health Based on the Case of a Web-Based Grief Service for Older Mourners: Mixed Methods Study.

Background: Artificial intelligence (AI) tools hold much promise for mental health care by increasing the scalability and accessibility of care. However, current development and evaluation practices of AI tools limit their meaningfulness for health care contexts and therefore also the practical usefulness of such tools for professionals and clients alike.

Objective: The aim of this study is to demonstrate the evaluation of an AI monitoring tool that detects the need for more intensive care in a web-based grief intervention for older mourners who have lost their spouse, with the goal of moving toward meaningful evaluation of AI tools in e-mental health.

Case report of a double-wave re-entry atrial flutter in a patient with atrial cardiomyopathy.

Background: Double-wave macrore-entry is a rare mechanism of atrial tachycardia with limited documentation in the literature. We present a three-dimensional documentation of a double-wave 'typical' atrial flutter in a patient with extensive atrial cardiomyopathy.

Case Summary: A 78-year-old female with a history of atrial cardiomyopathy and dual-chamber pacemaker for sinus node disease presented with palpitations and incessant atrial flutter.

Conserved -Acting Range Extender Element Mediates Extreme Long-Range Enhancer Activity in Mammals.

While most mammalian enhancers regulate their cognate promoters over moderate distances of tens of kilobases (kb), some enhancers act over distances in the megabase range. The sequence features enabling such extreme-distance enhancer-promoter interactions remain elusive. Here, we used enhancer replacement experiments in mice to show that short- and medium-range enhancers cannot initiate gene expression at extreme-distance range.

Increased enhancer-promoter interactions during developmental enhancer activation in mammals.

Remote enhancers are thought to interact with their target promoters via physical proximity, yet the importance of this proximity for enhancer function remains unclear. Here we investigate the three-dimensional (3D) conformation of enhancers during mammalian development by generating high-resolution tissue-resolved contact maps for nearly a thousand enhancers with characterized in vivo activities in ten murine embryonic tissues. Sixty-one percent of developmental enhancers bypass their neighboring genes, which are often marked by promoter CpG methylation.

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.

Rare disorders that are genetically and clinically heterogeneous, such as mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most proteins involved in mitochondrial biogenesis, despite all mitochondria having their own DNA. The development of next-generation sequencing (NGS) technologies has revolutionized the understanding of many genes involved in the pathogenesis of MDs.

[Updated indications and techniques for immediate breast reconstruction, particularly in the case of adjuvant radiotherapy].

In 2023, 62,000 patients were diagnosed with breast cancer in France. Every year, 22,000 mastectomies are performed. Breast reconstruction (BR) should be an integral part of breast cancer management.

Rapid and Quantitative Functional Interrogation of Human Enhancer Variant Activity in Live Mice.

Functional analysis of non-coding variants associated with human congenital disorders remains challenging due to the lack of efficient models. Here we introduce dual-enSERT, a robust Cas9-based two-color fluorescent reporter system which enables rapid, quantitative comparison of enhancer allele activities in live mice of any genetic background. We use this new technology to examine and measure the gain- and loss-of-function effects of enhancer variants linked to limb polydactyly, autism, and craniofacial malformation.

Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.

Introduction: Leigh syndrome (LS) is clinically and genetically heterogeneous and presents defective mitochondrial bioenergetics. Patients present neurological symptoms and imagiological features that may result in early death [1]. The LS has been associated with mitochondrial DNA (mtDNA) variants, e.

TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis.

Background: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene.

Methods: We report the clinical phenotype of two children with TANGO2 deficiency disorder.

Results: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and atonic seizures.

Developing an eMental health monitoring module for older mourners using fuzzy cognitive maps.

Objective: Effective internet interventions often combine online self-help with regular professional guidance. In the absence of regularly scheduled contact with a professional, the internet intervention should refer users to professional human care if their condition deteriorates. The current article presents a monitoring module to recommend proactively seeking offline support in an eMental health service to aid older mourners.

Development of an online service for coping with spousal loss by means of human-centered and stakeholder-inclusive design: the case of LEAVES.

To support older mourners after the loss of their partner, LEAVES, an online self-help service that delivers the LIVIA spousal bereavement intervention, was developed. It integrates an embodied conversational agent and an initial risk assessment. Based on an iterative, human-centered, and stakeholder inclusive approach, interviews with older mourners and focus groups with stakeholders were conducted to understand their perspective on grief and on using LEAVES.

Salmonellosis in Children at a Portuguese Hospital: A Retrospective Study.

Introduction: Salmonellosis represents a considerable health, social and economic burden in both high- and low-income countries. Recently, in Portugal, most cases of Salmonella infections have been reported in children under 15 years of age. The main aim of this study was to characterize, from an epidemiological, microbiological, and clinical perspective, cases of Salmonella isolation among children.

Linguistic and cultural adaptation of the EARP Questionnaire to European Portuguese.

Objective: This study aims at the linguistic and cultural adaptation of the Early ARthritis for Psoriatic Patients (EARP) questionnaire into European Portuguese, for psoriatic patients attending dermatology medical examination.

Methods: Firstly, we performed a process of translation and back-translation of the English version of the EARP Questionnaire to European Portuguese, with interim and final harmonization. The resulting Portuguese version was approved by the EARP original author.

A Web-Based Self-help Intervention for Coping With the Loss of a Partner: Protocol for Randomized Controlled Trials in 3 Countries.

Background: The death of a partner is a critical life event in later life, which requires grief work as well as the development of a new perspective for the future. Cognitive behavioral web-based self-help interventions for coping with prolonged grief have established their efficacy in decreasing symptoms of grief, depression, and loneliness. However, no study has tested the efficacy for reducing grief after losses occurring less than 6 months ago and the role of self-tailoring of the content.