Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in .

Background: This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a case presenting a novel mutation in the gene and its phenotype in the case's relatives, shedding light on the structural and functional intricacies underlying this rare ophthalmologic disorder.

Case Presentation: A 33-year-old female presented for consultation with a history of bilateral retinal damage accompanied by a complaint of decreased visual acuity, progressive visual field deficit, and night blindness over the past year.

[Interference of oral anti-Xa anticoagulants during monitoring of unfractionated heparin treatments: practical and future attitudes].

Contrary to direct oral anticoagulants (DOAC), unfractionated heparin (UFH) requires daily monitoring when administered at therapeutic dose. At present, UFH monitoring is preferably carried out by measuring plasma anti-Xa activity, however, in patients previously treated with an anti-Xa DOAC and switched to UFH, there is a high risk of DOAC interfering with the measurement of UFH anti-Xa activity. Residual anti-Xa DOAC in the sample can lead to an overestimation of the anticoagulant activity attributed to heparin and thus to incorrect anticoagulation.

Optimization of cerebral oxygenation based on regional cerebral oxygen saturation monitoring during carotid endarterectomy: a Phase III multicenter, double-blind randomized controlled trial.

Background: Whether the optimization of cerebral oxygenation based on regional cerebral oxygen saturation (rSO) monitoring reduces the occurrence of cerebral ischemic lesions is unknown.

Methods: This multicenter, randomized, controlled trial recruited adults admitted for scheduled carotid endarterectomy. Patients were randomized between the standard of care or optimization of cerebral oxygenation based on rSO monitoring using near-infrared spectroscopy.

Clinicopathological, dermoscopic features and circumstances of diagnosis of amelanotic or hypomelanotic melanoma: A prospective multicentric study in the French private medical sector.

Background: Amelanotic or hypomelanotic melanomas (AHM) are difficult to diagnose, and are often diagnosed late, with a high Breslow index and a poor prognosis.

Patients And Methods: A total of 226 volunteer dermatologists consulting in private practice in France completed an online form for each new histologically proven case of melanoma diagnosed at their clinic in 2020. This anonymised survey collected data on the clinical, dermoscopic, and histological features of melanoma, as well as the circumstances of diagnosis and initial management.

Laryngeal graft after total laryngectomy in humans: A SWiM analysis.

Evaluation of the results of laryngeal transplantation (LT) in humans. Analysis of 3 bibliographic databases with the keywords "larynx, transplantation, autograft". In total, 626 abstracts were read and 25 articles selected.

Cell cross talk within the lymphoma tumor microenvironment: follicular lymphoma as a paradigm.

Follicular lymphoma (FL) is an indolent yet incurable germinal center B-cell lymphoma retaining a characteristic follicular architecture. FL tumor B cells are highly dependent on direct and indirect interactions with a specific and complex tumor microenvironment (TME). Recently, great progress has been made in describing the heterogeneity and dynamics of the FL TME and in depicting how tumor clonal and functional heterogeneity rely on the integration of TME-related signals.

Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation.

Objective: To better understand patients' conditions and expectations before starting a uterus transplantation (UTx) program for women suffering from Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome).

Method: A web-based survey was conducted among MRKH patients via the French national association network from March to August 2020. The questionnaire comprised twenty-eight questions about their desire for parenthood, their condition's characteristics and previous reconstructive procedures, opinions and knowledge about UTx.

A performance evaluation of sthemO 301 coagulation analyzer and associated reagents.

Aim: The study objective was to evaluate the performance of sthemO 301 system and to compare it with the analyzer used in our university hospital laboratory (STA R Max® 2), for a selection of hemostasis parameters.

Methods: Method comparison (according to CLSI EP09-A3), carryover (according to CLSI H57-A), APTT sensitivity to heparin (according to CLSI H47-A2), HIL level assessment, and productivity were performed using leftover samples from our laboratory (n > 1000). Commercial quality control materials were used to evaluate precision (according to CLSI EP15-A3) and accuracy.

Molecular and clinicopathologic characterization of pediatric histiocytoses.

The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell histiocytosis (-LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAF . Most BRAF samples were analyzed by next-generation sequencing (NGS) with a custom panel of genes for histiocytosis and myeloid neoplasia.

Unicompartmental knee arthroplasty: A French multicenteric retrospective descriptive study from 2009 to 2019 with projections to 2050.

Introduction: Unicompartmental knee arthroplasty (UKA) is a reliable and reproducible procedure. While some surgeons have incorporated it into their therapeutic armamentarium, others do not use it routinely, leading to a large disparity in practice. The objective of this study was to investigate in France the epidemiology of UKA from 2009 to 2019 to identify: (1) the evolution of growth trends by sex and age, (2) the evolution of the state of comorbidity of patients during the operation, (3) the evolution of trends according to the regions, (4) the projection best suited to the observations at 2050.

Pulmonary vein isolation alone or in combination with substrate modulation after electrical cardioversion failure in patients with persistent atrial fibrillation: The PACIFIC trial: Study design.

Introduction: Pulmonary vein isolation (PVI) is effective at treating 50% of unselected patients with persistent atrial fibrillation (AF). Alternatively, PVI combined with a new ablation strategy entitled the Marshall-PLAN ensures a 78% 1-year sinus rhythm (SR) maintenance rate in the same population. However, a substantial subset of patients could undergo the Marshall-PLAN unnecessarily.

Frequency and predictors for chronic thromboembolic pulmonary hypertension after a first unprovoked pulmonary embolism: Results from PADIS studies.

Background: Chronic thromboembolic pulmonary hypertension (CTEPH) is a life-threatening complication of a pulmonary embolism (PE) whose incidence and predictors are not precisely determined.

Objective: To determine the frequency and predictors for CTEPH after a first unprovoked PE.

Patients/methods: In a randomized trial comparing an additional 18-month warfarin versus placebo in patients after a first unprovoked PE initially treated with vitamin K antagonist for 6 months, we applied recommended CTEPH screening strategies through an 8-year follow-up to determine cumulative incidence of CTEPH.

Preoperative risk factors for complications after flexible and rigid ureteroscopy for stone disease: A French multicentric study.

Background: With an increasing prevalence in industrialized countries, lithiasis represents a public health problem with significant economic cost. Ureteroscopy is nowadays the main treatment for kidney and ureteral stones with increasingly broad indications. While this treatment is relatively safe and effective, the complications can be severe.

Long-term oncological safety of sentinel lymph node biopsy in early-stage cervical cancer: A post-hoc analysis of SENTICOL I and SENTICOL II cohorts.

Objectives: To compare oncologic outcomes of patients with early-stage cervical cancer and negative nodes who underwent sentinel lymph node biopsy alone (SLNB) versus pelvic lymphadenectomy (PL).

Methods: An ancillary analysis of two prospective multicentric trials on SLN biopsy for cervical cancer (SENTICOL I and II) was conducted. Only patients with early-stage cervical cancer (IA to IIA FIGO stage), bilateral detection of SLN, negative SLN after ultrastaging and negative non-SLN after final pathologic examination were included.

[Renal carcinoma with leiomyomatous stroma and osseous metaplasia from a patient diagnosed with a tuberous sclerosis complex].

Renal cell carcinoma with leiomyomatous stroma is a rare and poorly described histopathological entity. Here we report a unique case with osseous metaplasia, in a 31-year-old man recently diagnosed with a tuberous sclerosis complex (TSC2 gene mutation). Partial nephrectomy was performed.

Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype.

Acquired demyelinating syndromes (ADS) are frequently associated with myelin oligodendrocytes glycoprotein (MOG) antibodies in children. Clinical phenotypes are heterogeneous and may delay the diagnosis, especially when they relapse and are atypical, mimicking diseases such as multiple sclerosis or neuromyelitis optica spectrum disorders . Here, we describe two children: one with a progressive cognitive and behavioral deterioration with seizures after only one relapse and the other with similar clinical impairments associated with multiple relapses.

Management and outcomes of hypertrophic cardiomyopathy in young adults.

Background: Management of young adults with hypertrophic cardiomyopathy (HCM) is challenging.

Aims: To evaluate the profile of young adults (16-25 years) with HCM included in the French prospective HCM registry.

Methods: Patients were compared according to occurrence of major adverse cardiac events (MACE), comprising sudden cardiac death (SCD) events (implantable cardioverter defibrillator [ICD] discharge, SCD, sustained ventricular tachycardia), atrial fibrillation/embolic stroke, heart failure hospitalisation and unexplained syncope, at a mean follow-up of 4.

Effect of High-Dose Baclofen on Agitation-Related Events Among Patients With Unhealthy Alcohol Use Receiving Mechanical Ventilation: A Randomized Clinical Trial.

Importance: Unhealthy alcohol use can lead to agitation in the intensive care unit (ICU).

Objective: To assess whether high-dose baclofen reduces agitation-related events compared with placebo in patients with unhealthy alcohol use receiving mechanical ventilation.

Design, Settings, And Participants: This phase 3, double-blind, placebo-controlled, randomized clinical trial conducted in 18 ICUs in France recruited adults receiving mechanical ventilation who met criteria for unhealthy alcohol use.