Neural networks for predicting etiological diagnosis of uveitis.

Background/objectives: The large number and heterogeneity of causes of uveitis make the etiological diagnosis a complex task. The clinician must consider all the information concerning the ophthalmological and extra-ophthalmological features of the patient. Diagnostic machine learning algorithms have been developed and provide a correct diagnosis in one-half to three-quarters of cases.

Therapeutic impact of basic critical care echocardiography performed by residents after limited training.

Background: The objective was to assess the agreement between therapeutic proposals derived from basic critical care echocardiography performed by novice operators in ultrasonography after a limited training (residents) and by experts considered as reference. Secondary objectives were to assess the agreement between operators' answers to simple clinical questions and the concordance between basic two-dimensional measurements.

Methods: This observational, prospective, single-center study was conducted over a 3-year period in a medical-surgical intensive care unit.

Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX.

Objectives: Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease associated with somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy and safety of targeted therapies.

Methods: Multicentre retrospective study including patients with genetically proven VEXAS syndrome who had received at least one targeted therapy.

Etiological Diagnosis of Uveitis: Contribution of the of the Extra-Ophthalmological Clinical Examination.

Purpose: Determining uveitis etiology is a challenge. It is based primarily on demographic data and the characteristics of eye examination. It is not clear to what extent extraocular physical signs contribute to elucidating the etiology.

VEXAS syndrome, a new kid on the block of auto-inflammatory diseases: A hematologist's point of view.

The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which encodes for a key enzyme of the ubiquitylation proteasome system. As a result, a shorter cytoplasmic isoform of UBA1 is transcribed, which is non-functional. The disease is characterized by non-specific and highly heterogeneous inflammatory manifestations and macrocytic anemia.

H syndrome treated with Tocilizumab: two case reports and literature review.

H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hyperglycemia, fixed flexion contractures of the toe joints, and the proximal interphalangeal joints. In rare cases, autoinflammatory and lymphoproliferative manifestations have also been reported. This disorder is due to loss-of-function mutations in gene, which encode the equilibrative nucleoside transporter ENT3.

Gut microbiota alterations are associated with phenotype and genotype in familial Mediterranean fever.

Objective: FMF is the most common monogenic autoinflammatory disease associated with MEFV mutations. Disease phenotype and response to treatment vary from one patient to another, despite similar genotype, suggesting the role of environmental factors. The objective of this study was to analyse the gut microbiota of a large cohort of FMF patients in relation to disease characteristics.

Sarcoidosis-Related Uveitis: A Review.

Sarcoidosis is an inflammatory disease that involves the eyes in 10-55% of cases, sometimes without systemic involvement. All eye structures can be affected, but uveitis is the most common ocular manifestation and causes vision loss. The typical ophthalmological appearance of these uveitis is granulomatous (in cases with anterior involvement), which are usually bilateral and with synechiae.

Minor Salivary Gland Biopsy for the Diagnosis of Neurosarcoidosis.

Introduction: The definite diagnosis of neurosarcoidosis is challenging since it requires a compatible histology of the nervous system. When neurosarcoidosis is suspected, other systemic manifestations are investigated to confirm the diagnosis. A minor salivary gland biopsy (MSGB) is often performed since it is minimally invasive.

Mortality and Associated Causes in Hemophagocytic Lymphohistiocytosis: A Multiple-Cause-of-Death Analysis in France.

Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome with an overall mortality rate of 40%. A multiple-cause-of-death analysis allows for the characterization of mortality and associated causes over an extended period. Death certificates, collected between 2000 and 2016 by the French Epidemiological Centre for the Medical Causes of Death (CepiDC, Inserm), containing the ICD10 codes for HLH (D76.

Hydroxychloroquine Therapy in Sarcoidosis-Associated Uveitis.

Background/purpose: To assess the efficacy and tolerance of hydroxychloroquine in sarcoidosis-associated uveitis.

Methods: Retrospective study on all patients with sarcoidosis-associated uveitis who were treated with hydroxychloroquine between 2003 and 2019 in a French university hospital.

Results: Twenty-seven patients with sarcoidosis-associated uveitis received hydroxychloroquine.

Hepatic sarcoidosis with symptomatic portal hypertension: A report of 12 cases with review of the literature.

Introduction: Sarcoidosis is a systemic granulomatosis of unknown etiology, characterized by the presence of immune granulomas. Liver damage is a relatively common extra-pulmonary manifestation, occurring in 3.6-30% of cases.