Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.

Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity.

Sex-modulated association between thyroid stimulating hormone and informant-perceived anxiety in non-depressed older adults: Prediction models and relevant cutoff value.

The aim of this study was to assess the association between thyroid function and perceived anxiety in non-depressed older adults. Non-depressed Alzheimer's Disease Neuroimaging Initiative (ADNI) participants with complete Thyroid Stimulating Hormone (TSH) and neuropsychiatric inventory (NPI/NPI-Q) were included. The association between anxiety and thyroid function was assessed by logistic regression and sex stratification.

A multi-modal computational fluid dynamics model of left atrial fibrillation haemodynamics validated with 4D flow MRI.

Atrial fibrillation (AF) is characterized by rapid and irregular contraction of the left atrium (LA). Impacting LA haemodynamics, this increases the risk of thrombi development and stroke. Flow conditions preceding stroke in these patients are not well defined, partly due the limited resolution of 4D flow magnetic resonance imaging (MRI).

Mineralocorticoid axis activity and cardiac remodeling in patients with ACTH dependent Cushing's syndrome.

Background: Arterial hypertension and left ventricular hypertrophy and remodeling are independent cardiovascular risk factors in patients with Cushing's syndrome. Changes in the renin-angiotensin system and in the mineralocorticoid axis activity could be involved as potential mechanisms in their pathogenesis, in addition to cortisol excess.

Methods: In this ancillary study of our previous study prospectively investigating patients with ACTH-dependent Cushing's syndrome by cardiac magnetic resonance imaging (NCT02202902), 11 patients without any interfering medication were cross-sectionally compared to 20 control subjects matched for age, sex and body mass index.

Different disease activity trajectories in early axial spondyloarthritis lead to significantly different long-term outcomes: a trajectory-based analysis of the DESIR cohort over 10 years.

Introduction: The study aimed to identify and describe disease activity trajectories over 10 years in patients with recent-onset axial spondyloarthritis (axSpA) and determine their impact on long-term outcomes.

Methods: This prospective, multicentre study (Devenir des Spondylarthropathies Indifférenciées Récentes cohort, ClinicalTrials.gov NCT) followed patients with early axSpA for 10 years.

Vasodilator drugs and heart-related outcomes in systemic sclerosis: an exploratory analysis.

Background And Aims: Systemic sclerosis (SSc) is an autoimmune connective disease characterised by excessive extracellular matrix deposition and widespread skin and internal organ fibrosis including various cardiac manifestations. Heart involvement is one of the leading causes of death among patients with SSc. In this study, we aimed to assess the effect of various vasodilator treatments.

NSAID exposure delays time-to-pregnancy in patients with spondyloarthritis: an analysis of the GR2 prospective cohort.

Background: The impact of disease activity and treatment on fertility outcomes in patients with spondyloarthritis (SpA) has been little explored. This study aimed to describe median time to pregnancy (TTP) in women with SpA and the factors influencing TTP in this population.

Methods: This prospective observational multicentre (63 centres) French cohort (GR2 study-NCT02450396) included consecutive women with a diagnosis of SpA (according to their rheumatologist) who wanted to become pregnant between 2015 and 2021.

[Use of HemoCue® or portable hemoglobinometer: results of the national surveys carried out by the SFBC POCT working group].

Hemoglobin (Hb) measurement is a fundamental biological test, especially in emergency situations where rapid medical decisions are required. Portable hemoglobinometers, such as HemoCue®, provide a delocalized solution for capillary whole blood. The SFBC's POCT News and Issues working group designed and conducted two national surveys to assess the use and management of these devices, both on the clinical and biological side, with 306 and 160 responses respectively.

Towards a Unified Set of Diagnostic Criteria for Multiple Sclerosis.

Objective: The 2017 McDonald criteria continued the separation of diagnostic criteria for relapsing-remitting multiple sclerosis (RRMS) and primary progressive MS (PPMS) for historical, rather than biological, reasons. We aimed to explore the feasibility of a single, unified set of diagnostic criteria when applied to patients with suspected PPMS.

Methods: We retrospectively identified patients evaluated for suspected PPMS at 5 European centers.

Erythema multiforme.

Unlabelled: Erythema multiforme is an inflammatory skin and mucosal disease mainly related to infectious agents such as Herpes simplex virus, , though it can also be "idiopathic". The characteristic skin lesions are typical or atypical acral raised target lesions. The oral mucosa can be affected, alone or in combination with other mucosal/cutaneous sites, sometimes causing extreme pain, severely impacting food intake, and warranting hospitalization.

Remission versus low disease activity as treatment targets in rheumatoid arthritis: how to strike the right balance between too strict and too lenient targets? A meta-epidemiological study of individual patient data.

Objectives: To evaluate the impact of using Simplified Disease Activity Index (SDAI)-LDA (low disease activity) versus different definitions of remission as a treatment target in established rheumatoid arthritis.

Methods: A meta-epidemiological study of individual patient data from eight randomised controlled trials was performed. Four definitions of the target were considered at 6 months: (1) SDAI-LDA: SDAI≤11; (2) SDAI-Remission: SDAI≤3.

[Not Available].

LATEST DEVELOPMENTS IN ANAPLASTIC THYROID CARCINOMA MANAGEMENT IN 2024: Anaplastic thyroid carcinomas (ATCs) represent a rare and undifferentiated form of thyroid cancer with a poor prognosis, typically marked by a median overall survival of four to ten months. However, recent advances have shown improvements due to the more systematic application of molecular testing, targeted therapies, and immunotherapy, alongside the establishment of rapid specialized care protocols in expert centers. Clinically, ATCs often present as a rapidly enlarging cervical mass originating from the thyroid, causing neck, pain and tenderness, dyspnea and dys-phagia, and associated lymphadenopathy, typically in elderly patients.

Artificial Urinary Sphincter Implants in Men: A National Health Care Data System-Based Study to Assess Reinterventions in France.

Purpose: Significant concerns remain regarding the long-term outcomes of American Medical Systems 800 artificial urinary sphincter (AUS) implants in men. The objective was to assess the long-term AUS reintervention (replacement or removal) rates after a first-ever AUS implantation.

Materials And Methods: This population-based retrospective cohort study included all men age ≥ 18 years in France who underwent a first-ever AUS implantation (identified using a unique device identifier) for male stress urinary incontinence (SUI) after prostate cancer or benign prostatic hyperplasia (BPH) treatment, between January 1, 2006, and December 31, 2018.

Sleep and nighttime behavior disorders in older adults: associations with hypercholesterolemia and hypertriglyceridemia at baseline, and a predictive analysis of incident cases at 12 months follow-up.

Introduction: Sleep disorders, particularly insomnia and obstructive sleep apnea, are associated with dyslipidemia in the general population. The study's aim was to explore the association between pathological Cholesterol and Triglyceride levels, and sleep and nighttime behavior disorders (SNBD) in older adults, whether they might predict SNBD onset, and to emphasize the role of body mass index (BMI) in this association.

Methods: Alzheimer's Disease Neuroimaging Initiative (ADNI) population with complete Cholesterol, Triglyceride, SNBD, and neurocognitive data were included.

Consideration of Early Dynamic Risk Stratification to Guide Discharge from Oncologic Follow-Up in Patients with Differentiated Thyroid Cancer.

The current dogma is a life-long follow-up for patients treated for follicular-derived differentiated thyroid cancers (DTC). Our primary objective was to determine the time to recurrence in a series of DTC patients with an excellent response to therapy 6 months after total thyroidectomy and radioiodine therapy. The secondary objectives were to determine the time to suspicion of recurrence and to identify factors associated with recurrence.

The Functional substrate in patients with atrial fibrillation is predictive of recurrences after catheter ablation.

Background: Enhanced characterization of the atrial electrical substrate may lead to better comprehension of atrial fibrillation (AF) pathophysiology.

Objective: With the use of high-density substrate mapping, we sought to investigate the occurrence of functional electrophysiological phenomena in the left atrium and to assess potential association with arrhythmia recurrences after catheter ablation.

Methods: Sixty-three consecutive patients with AF referred for ablation were enrolled.