228 results match your criteria: "UFR de médecine (Medical School)[Affiliation]"

Background: The treatment of Shigella infections has become a major challenge due to the emergence of multidrug-resistant Shigella. There is however insufficient knowledge regarding the molecular epidemiology of Shigella strains producing beta-lactamases in Africa. This systematic review investigated the scientific literature on the molecular epidemiology of extended-spectrum beta-lactamase (ESBL) and carbapenemases producing Shigella in Africa.

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Article Synopsis
  • The study aimed to determine effective cutoff scores for the Psoriatic Arthritis Impact of Disease questionnaire (PsAID12) based on disease activity measures in patients with PsA.
  • Using data from the ReFlaP study, researchers analyzed scores to define disease states such as remission and varying impact levels, employing statistical methods to establish these cutoffs.
  • Results indicated that the PsAID12 score had high diagnostic performance against established benchmarks, but further validation and expert consensus are needed to confirm the proposed cutoffs for clinical use.
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European clinical practice guideline: managing and treating laryngopharyngeal reflux disease.

Eur Arch Otorhinolaryngol

December 2024

Research Committee of Young-Otolaryngologists of the International Federations of Oto-rhino- laryngological Societies (YO-IFOS), Paris, France.

Objective: To propose a European consensus for managing and treating laryngopharyngeal reflux disease (LPRD) to guide primary care and specialist physicians.

Methods: Twenty-three European experts (otolaryngologists, gastroenterologists, surgeons) participated in a modified Delphi process to revise 38 statements about the definition, clinical management, and treatment of LPRD. Three voting rounds were conducted on a 5-point scale and a consensus was defined a priori as agreement by 80% of the experts.

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Objective: To investigate the performance of ChatGPT in the differential diagnosis of oral and maxillofacial diseases.

Methods: Thirty-seven oral and maxillofacial lesions findings were presented to ChatGPT-3.5 and - 4, 18 dental surgeons trained in oral medicine/pathology (OMP), 23 general dental surgeons (DDS), and 16 dental students (DS) for differential diagnosis.

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Clinical features and outcomes in carriers of pathogenic desmoplakin variants.

Eur Heart J

January 2025

Division of Cardiology, Department of Medicine, Johns Hopkins University, 601 North Caroline St., Baltimore, MD 21287, USA.

Article Synopsis
  • Pathogenic variants in the desmoplakin (DSP) gene lead to a unique type of cardiomyopathy that doesn't fit neatly into existing categories like DCM, NDLVC, or ARVC, with limited past studies on potential predictors of severe outcomes.
  • Researchers analyzed 800 patients with DSP variants from a global network over an average of 3.7 years, finding that 17.4% experienced sustained ventricular arrhythmias (VAs) and 9.0% had heart failure (HF) hospitalizations.
  • Key risk factors for developing VAs included female sex, history of non-sustained and sustained VAs, and lower left ventricular ejection fraction, while T-wave inversion was linked to HF
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Article Synopsis
  • The EHA-ESMO Clinical Practice Guideline offers important recommendations for the diagnosis, staging, treatment, and follow-up of HIV-associated lymphomas.
  • It includes insights from a diverse team of experts in oncology from various European institutions.
  • The recommendations are grounded in scientific research and the collective expertise of the authors.
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Article Synopsis
  • * The study finds that a history of nonsustained ventricular tachycardia is a strong predictor of future VA occurrences, although traditional risk factors such as age and male sex do not show a significant association with VA events.
  • * The ARVC risk calculator, which is intended to evaluate the risk of VA, performs inadequately in this patient population, highlighting the need for a more tailored, gene-specific risk
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Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.

N Engl J Med

August 2024

From the University of Minnesota Medical School and College of Pharmacy, Minneapolis (K.S.); Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles (M.S.K.), the University of California at San Francisco, Benioff Children's Hospital, San Francisco (M.L.), and Neurocrine Biosciences, San Diego (G.B.G.R., E.R., G.S.J., R.H.F., J.L.C.) - all in California; Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta (E.I.F.); Endocrinologie Pédiatrique, Centre de Référence Maladies Endocriniennes Rares de la Croissance et du Développement, Hôpital Universitaire Robert-Debré, Groupe Hospitalo-Universitaire de l'Assistance Publique-Hôpitaux de Paris Nord, and Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, and Université Paris-Saclay, INSERM Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre - all in France (L.M.); the University of Colorado School of Medicine, Children's Hospital Colorado, Aurora (N.J.N.); Pediatric Endocrinology, Hospital Universitario Vall d'Hebrón, Barcelona (M.C.); the University of Washington School of Medicine, Seattle Children's Hospital, Seattle (P.Y.F.); the Children's Hospital of Philadelphia, Philadelphia (M.G.V.); Cohen Children's Medical Center of NY, New Hyde Park, and the Donald and Barbara Zucker School of Medicine at Hofstra-Northwell, Hempstead - both in New York (P.W.S.); and the Departments of Pharmacology and Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Medical School, and the Endocrinology and Metabolism Section, Medicine Services, LTC Charles S. Kettles Veterans Affairs Medical Center - both in Ann Arbor (R.J.A.).

Background: Children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency require treatment with glucocorticoids, usually at supraphysiologic doses, to address cortisol insufficiency and reduce excess adrenal androgens. However, such treatment confers a predisposition to glucocorticoid-related complications. In 2-week phase 2 trials, patients with CAH who received crinecerfont, a new oral corticotropin-releasing factor type 1 receptor antagonist, had decreases in androstenedione levels.

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It is a challenge to keep abreast of all the clinical and scientific advances in the field of respiratory medicine. This article contains an overview of laboratory-based science, clinical trials and qualitative research that were presented during the 2023 European Respiratory Society International Congress within the sessions from the five groups of Assembly 1 (Respiratory Clinical Care and Physiology). Selected presentations are summarised from a wide range of topics: clinical problems, rehabilitation and chronic care, general practice and primary care, electronic/mobile health (e-health/m-health), clinical respiratory physiology, exercise and functional imaging.

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Background: A common terminology for diagnosis is critically important for clinical communication, education, research and artificial intelligence. Prevailing lexicons are limited in fully representing skin neoplasms.

Objectives: To achieve expert consensus on diagnostic terms for skin neoplasms and their hierarchical mapping.

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Next-generation sequencing (NGS) is increasingly being utilized as an ancillary tool for diagnostically challenging melanocytic neoplasms. It is incumbent upon the pathology community to perform studies assessing the benefits and limitations of these tools in specific diagnostic scenarios. One of the most challenging diagnostic scenarios faced by skin pathologists involves accurate diagnosis of desmoplastic melanocytic neoplasms (DMNs).

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Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.

Arch Pediatr

April 2024

Assistance publique - Hôpitaux de Marseille APHM, La Conception Hospital, Nutrition, Metabolic Diseases and Endocrinology Department, Marseille, France; INSERM, INRAE, Aix Marseille University, Department C2VN, Marseille, France.

Background: Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8-10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking.

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BRAF Mutated and Morphologically Spitzoid Tumors, a Subgroup of Melanocytic Neoplasms Difficult to Distinguish From True Spitz Neoplasms.

Am J Surg Pathol

May 2024

Department of Translational Research, Curie Institute, Paris Sciences & Letters University, and UFR of Medicine, University of Paris Cité, Paris, France.

Article Synopsis
  • Drivers of Spitz neoplasms are linked to mutations in HRAS and genomic fusions, while some BRAF-mutated melanocytic neoplasms can resemble Spitz tumors, leading to the classification known as BRAF mutated and morphologically spitzoid (BAMS).
  • A study involving 17 pathologists assessed 54 cases, including 40 BAMS and 14 true Spitz tumors, without access to genomic data, and found a split in diagnostic preferences with about 38% identifying BAMS and 32% identifying ST among BAMS cases.
  • The study highlighted significant difficulty in distinguishing BAMS from true Spitz tumors, with poor agreement among experts on precise diagnosis (kappa = 0.16), although there was
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Frailty and Cognitive Function in Middle-Aged and Older Adults With Congenital Heart Disease.

J Am Coll Cardiol

March 2024

KU Leuven Department of Public Health and Primary Care, KU Leuven-University of Leuven, Leuven, Belgium; Faculty of Medicine and Health Sciences, Centre for Research and Innovation in Care, Division of Nursing and Midwifery, University of Antwerp, Antwerp, Belgium. Electronic address: https://twitter.com/EvaGoossens_PhD.

Article Synopsis
  • * It involved 814 patients aged 40 and above from various countries, finding that 52.3% were robust, 41.9% were prefrail, and 5.8% were frail, with 38.8% showing cognitive dysfunction.
  • * The research indicates that factors like older age, female sex, and comorbidities are linked to frailty and cognitive issues, suggesting that these challenges are significant even in patients with mild heart defects, thus advocating for regular assessments.*
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Objectives: Among patients with severe acute kidney injury (AKI) admitted to the ICU in high-income countries, regional practice variations for fluid balance (FB) management, timing, and choice of renal replacement therapy (RRT) modality may be significant.

Design: Secondary post hoc analysis of the STandard vs. Accelerated initiation of Renal Replacement Therapy in Acute Kidney Injury (STARRT-AKI) trial (ClinicalTrials.

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Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.

Respirology

April 2024

Department of Respiratory Medicine, National Reference Centre for Rare Pulmonary Diseases, Hospices civils de Lyon, Université Lyon 1, UMR754, INRAE, ERN-LUNG, Lyon, France.

Background And Objective: Variants in surfactant genes SFTPC or ABCA3 are responsible for interstitial lung disease (ILD) in children and adults, with few studies in adults.

Methods: We conducted a multicentre retrospective study of all consecutive adult patients diagnosed with ILD associated with variants in SFTPC or ABCA3 in the French rare pulmonary diseases network, OrphaLung. Variants and chest computed tomography (CT) features were centrally reviewed.

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Article Synopsis
  • The study analyzes data from two groups of individuals with DDX3X variations, one from physicians (48 individuals) and the other from caregivers (44 individuals).
  • The results reveal shared symptoms between the two groups, including previously unreported early childhood issues like feeding difficulties and delayed developmental milestones.
  • The discussion emphasizes that both datasets complement each other, highlighting the importance of addressing symptoms such as ADHD, anxiety, and sleep disturbances in affected individuals.
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AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.

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Purpose: Hepatocellular carcinoma (HCC), the fourth most common cancer in Africa, has a dismal overall survival of only 3 months like in sub-Saharan Africa. This is affected by the low gross domestic product and human development index, absence of coherent guidelines, and other factors.

Methods: An open forum for HCC-experienced health care workers from Africa and the rest of the world was held in October 2021.

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Located at the base of the skull, the pituitary gland has a long and controversial history, not only in terms of its anatomy, but especially in the functions it performs and in the attempt to approach it surgically. Considered by Galen of Pergamon to have a role in releasing waste products of the brain, a theory accepted until the 17th century, the pituitary gland became a separate entity once with the anatomical descriptions of the famous Andreas Vesalius. At the beginning of the 18th century, researches of the time began to be more and more interested in this gland, trying to identify its functions, and at the same time correcting the traditional theories that were wrong or incomplete.

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A strong association between the proportion of indigenous South American Mapuche ancestry and the risk of gallbladder cancer (GBC) has been reported in observational studies. Chileans show the highest incidence of GBC worldwide, and the Mapuche are the largest indigenous people in Chile. We set out to assess the confounding-free effect of the individual proportion of Mapuche ancestry on GBC risk and to investigate the mediating effects of gallstone disease and body mass index (BMI) on this association.

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Article Synopsis
  • - The article provides an overview of recent developments in respiratory medicine showcased at the 2022 European Respiratory Society International Congress, focusing on laboratory science and clinical trials.
  • - It summarizes selected presentations from various topics, including clinical issues, rehabilitation, chronic care, general practice, and mobile health technologies.
  • - Key areas discussed include clinical respiratory physiology, exercise, and functional imaging, highlighting the challenges of keeping up with advancements in the field.
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Complex patterns of acoustic communication exist throughout the animal kingdom, including underwater. The river-dwelling and the Pachón cave-adapted morphotypes of the fish Astyanax mexicanus are soniferous and share a repertoire of sounds. Their function and significance is mostly unknown.

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