18,227 results match your criteria pathologie]


[Surgery or not on an atypical breast lesion? Taking anxiety into account in shared decision support from a prospective cohort of 300 patients].

Gynecol Obstet Fertil Senol 2021 Sep 22. Epub 2021 Sep 22.

Université de Bordeaux, Bordeaux Population Health (U1219), Equipe Méthodes pour la Recherche Interventionnelle en Santé des Populations (MéRISP), France.

Introduction: Organized and individual breast screening have been accompanied by an increase in the detection of "atypical breast lesions "(ABL). Recently, the NOMAT multicenter study proposed a predictive model of the risk of developing breast cancer after detection of an ABL in order to avoid surgical removal of "low-risk" lesions. It also aimed to provide information on psychological experience, in particularly anxiety, to assist in the shared medical decision process. Read More

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September 2021

Analysis on the healing of gastrointestinal ulceration by using Hemospray.

Sci Rep 2021 Sep 24;11(1):19050. Epub 2021 Sep 24.

Department of Gastroenterology, Gastrointestinal Oncology, Hepatology, Infectiology, and Geriatrics, University Hospital Tübingen, 72076, Tübingen, Germany.

Healing of gastrointestinal ulcers after Hemospray application was reported in literature. The pathophysiological mechanism of action of hemostatic powders is not elucidated so far. A prospective animal model was performed to evaluate the effect of Hemospray application on the healing process of artificially induced ulcers of the upper and lower gastrointestinal tract. Read More

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September 2021

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

J Neurol 2021 Sep 24. Epub 2021 Sep 24.

APHP, GH Université Paris-Saclay, DMU Smart Imaging, Medical Imaging Department, Raymond Poincaré Teaching Hospital, Garches, France.

Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency.

Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). Read More

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September 2021

Assessing eukaryotic initiation factor 4F subunit essentiality by CRISPR-induced gene ablation in the mouse.

Cell Mol Life Sci 2021 Sep 24. Epub 2021 Sep 24.

Department of Biochemistry, McGill University, Montreal, QC, H3G 1Y6, Canada.

Eukaryotic initiation factor (eIF) 4F plays a central role in the ribosome recruitment phase of cap-dependent translation. This heterotrimeric complex consists of a cap binding subunit (eIF4E), a DEAD-box RNA helicase (eIF4A), and a large bridging protein (eIF4G). In mammalian cells, there are two genes encoding eIF4A (eIF4A1 and eIF4A2) and eIF4G (eIF4G1 and eIF4G3) paralogs that can assemble into eIF4F complexes. Read More

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September 2021

GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.

Am J Med Genet A 2021 Sep 24. Epub 2021 Sep 24.

Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement et Centre de Compétence Maladies Osseuses Constitutionnelles, Groupement Hospitalier Est, Bron, France.

Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two genes encoding enzymes of the vitamin K cycle, GGCX and VKORC1, can lead to this disorder. We present the case of a male fetus with a brachytelephalangic chondrodysplasia punctata (CDP), absence of nasal bone, growth restriction, and bilateral ventriculomegaly at 18 weeks of gestation. Read More

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September 2021

Erratum zu: Symptomatische Hodenmetastase eines azinären Adenokarzinoms der Prostata.

Urologe A 2021 Sep 23. Epub 2021 Sep 23.

Klinik für Urologie und Kinderurologie, Universitätsklinikum Schleswig-Holstein-Campus Kiel, Kiel, Deutschland.

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September 2021

Climatic and landscape changes as drivers of environmental feedback that influence rainfall frequency in the United States.

Glob Chang Biol 2021 Sep 23. Epub 2021 Sep 23.

Pathologie Végétale, INRAE, Montfavet, France.

Previous studies have identified regions where the occurrence of rainfall significantly increases or decreases the probability for subsequent rainfall over periods that range from a few days to several weeks. These observable phenomena are termed "rainfall feedback" (RF). To better understand the land-atmosphere interactions involved in RF, the behavior of RF patterns was analyzed using data from 1849 to 2016 at ~3000 sites in the contiguous United States. Read More

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September 2021

Congenital infection of SARS-CoV-2 with intrauterine foetal death: a clinicopathological study with molecular analysis.

Clin Infect Dis 2021 Sep 23. Epub 2021 Sep 23.

Department of Pathology and Neuropathology, La Timone Hospital, Aix Marseille, University, Marseille, France.

Observations of vertical transmission of SARS-CoV-2 infection from mother to foetus have recently been described in the literature. However, the consequences of such transmission, whether foetal or neonatal, are poorly understood. From a case of in utero foetal death at 24 +2 weeks of gestation that occurred seven days after the diagnosis of symptomatic SARS-CoV-2 infection in the mother, we isolated the incriminating virus by immunochemistry and molecular techniques in several foetal tissues, with a variant analysis of the SARS-CoV-2 genome. Read More

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September 2021

Epidemiology, Mortality and Healthcare Resource Utilization Associated With Systemic Sclerosis-Associated Interstitial Lung Disease in France.

Front Med (Lausanne) 2021 30;8:699532. Epub 2021 Aug 30.

Hôpital Louis Pradel, Centre Coordonnateur National de Référence des Maladies Pulmonaires Rares, Hospices Civils de Lyon, UMR754 INRAE and Université Claude Bernard Lyon 1, Member of ERN-LUNG, RespiFil, OrphaLung, Lyon, France.

To investigate the clinical characteristics, epidemiology, survival estimates and healthcare resource utilization and associated costs in patients with systemic sclerosis-associated interstitial lung disease (SSc-ILD) in France. The French national administrative healthcare database, the Système National des Données de Santé (SNDS), includes data on 98.8% of the French population, including data relating to ambulatory care, hospitalizations and death. Read More

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Correction to: Adult bone marrow mesenchymal and neural crest stem cells are chemoattractive and accelerate motor recovery in a mouse model of spinal cord injury.

Stem Cell Res Ther 2021 Sep 22;12(1):509. Epub 2021 Sep 22.

Groupe Interdisciplinaire de Génoprotéomique Appliquée (GIGA), Neurosciences Research Center, Unit of Nervous system disorders and treatment, University of Liège, Tour de Pathologie 2, Avenue de l'Hôpital, 1, 4000, Liège, Belgium.

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September 2021

[Eosinophilic, solid, and cystic renal cell carcinoma (ESC-NZK)].

Pathologe 2021 Sep 22. Epub 2021 Sep 22.

Institut für Pathologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.

Despite its descriptive name, eosinophilic, solid, and cystic renal cell carcinoma (ESC-RCC) represents a distinctive epithelial renal tumor entity defined by characteristic clinicopathological and molecular features. ESC-RCC occurs predominantly in women and is characterized in the majority of cases by sporadic (somatic) TSC mutations. A small subset of cases, however, affects patients with TSC germline mutations (tuberous sclerosis syndrome). Read More

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September 2021

[Molecular diagnostics of bladder cancer-practical ramifications].

Urologe A 2021 Sep 22. Epub 2021 Sep 22.

Institut für Pathologie, Uniklinik RWTH Aachen, Aachen, Deutschland.

In the future, precision medicine with agents targeting specific genetic alterations will play an important role in bladder cancer. This includes both single genetic alterations (e.g. Read More

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September 2021

[Severe secondary sclerosing cholangitis as manifestation of a very rare underlying disease].

Internist (Berl) 2021 Sep 21. Epub 2021 Sep 21.

I. Medizinische Klinik und Poliklinik, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland.

Langerhans cell histiocytosis (LCH) is a very rare cause of secondary sclerosing cholangitis. We report the case of a 42-year-old male patient with sclerosing cholangitis and histological evidence of LCH from a bile duct biopsy. Due to rapid disease progression and exhaustion of conservative therapeutic approaches the patient received a liver transplantation. Read More

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September 2021

Diagnostic utility of whole-genome sequencing for nephronophthisis.

NPJ Genom Med 2020 Sep 21;5(1):38. Epub 2020 Sep 21.

Service de Toxicologie et Génopathies, CHU Lille, F-59000, Lille, France.

Next-generation sequencing has revolutionized the molecular diagnosis of individuals affected by genetic kidney diseases. Indeed, rapid genetic testing in individuals with suspected inherited nephropathy has not only important implications for diagnosis and prognosis but also for genetic counseling. Nephronophthisis (NPHP) and related syndromes, a leading cause of end-stage renal failure, are autosomal recessive disorders characterized by the variable presentation and considerable locus heterogeneity with more than 90 genes described as single-gene causes. Read More

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September 2020

Case Report: True Thymic Hyperplasia in a 30-Day-Old Boy.

Klin Padiatr 2021 Sep 20. Epub 2021 Sep 20.

Klinik und Poliklinik für Kinderchirurgie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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September 2021

Allergy to Mammalian Meat Linked to Alpha-Gal Syndrome Potentially After Tick Bite in the Amazon: A Case Series.

Am J Trop Med Hyg 2021 Sep 20. Epub 2021 Sep 20.

Tenon Hospital, Dermatology-Allergology Department, Sorbonne University, Paris, France.

The past decade has seen the emergence of a new type of food allergy occurring after ingestion of mammalian meat. This allergy is related to immunoglobulin (Ig)E specific for galactose-alpha-1,3 galactose (α-Gal). Originally described in the United States in 2009, other cases have subsequently been described in Australia and in Europe, but still very few in Latin America. Read More

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September 2021

[A rare cause of eyelid swelling].

HNO 2021 Sep 20. Epub 2021 Sep 20.

Klinik und Poliklinik für Hals-Nasen-Ohrenheilkunde, Ludwig-Maximilians-Universität München (LMU)-Klinikum, Marchioninistr. 15, 81377, München, Deutschland.

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September 2021

Pathomorphological Sequence of Nephron Loss in Diabetic Nephropathy.

Am J Physiol Renal Physiol 2021 Sep 20. Epub 2021 Sep 20.

Department of Neuroanatomy, grid.7700.0Heidelberg University, Heidelberg, Germany.

Following our reports on mesangial sclerosis and vascular proliferation in diabetic nephropathy (DN)(25,34) we now describe the advanced stages of DN terminating in glomerular obsolescence and tubulo-interstitial fibrosis based on a total of 918 biopsies. The structural aberrations emerge from two defects: First, an increased synthesis of glomerular basement membrane (GBM) components by podocytes and endothelial cells leading to an accumulation of GBM material in the mesangium. Second, a defect of glomerular vessels consisting of an increased leakiness and an increased propensity to proliferate. Read More

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September 2021

Acute myocarditis after COVID-19 vaccination with mRNA-1273 in a patient with former SARS-CoV-2 infection.

ESC Heart Fail 2021 Sep 18. Epub 2021 Sep 18.

Department of Medicine I, Jena University Hospital, Friedrich Schiller University Jena, Am Klinikum 1, Jena, 07747, Germany.

We describe a case of a 20-year-old healthy man developing chest pain and classical symptoms of vaccine reactogenicity 12 h after receiving the first dose of mRNA-1273 (Moderna). Cardiac troponin T was increased, and subepicardial inflammation and focal contractile dysfunction were detected by cardiac magnetic resonance imaging and echocardiography. We confirmed the diagnosis of acute myocarditis by endomyocardial biopsy demonstrating significant infiltration of monocytes and T lymphocytes. Read More

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September 2021

Short and long-term outcomes of patients with COVID-19-associated acute respiratory distress syndrome and difficult veno-venous-ECMO weaning.

Crit Care 2021 09 16;25(1):337. Epub 2021 Sep 16.

Service de Médecine Intensive Réanimation, DMU MEDECINE, AP-HP, Hôpitaux Universitaires Henri-Mondor, 51, Avenue du Maréchal de Lattre de Tassigny, 94010, Créteil, France.

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September 2021

Relay oral therapy in febrile urinary tract infections caused by extended spectrum beta-lactamase-producing Enterobacteriaceae in children: A French multicenter study.

PLoS One 2021 16;16(9):e0257217. Epub 2021 Sep 16.

Service de Pédiatrie Générale, Centre Hospitalier Intercommunal de Créteil, Créteil, France.

Objectives: We need studies assessing therapeutic options for oral relay in febrile urinary tract infection (FUTI) due to ESBL-producing Enterobacteriaceae (ESBL-E) in children. Amoxicillin-clavulanate/cefixime (AC-cefixime) combination seems to be a suitable option. We sought to describe the risk of recurrence at 1 month after the end of treatment for FUTI due to ESBL-E according to the oral relay therapy used. Read More

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September 2021

[A new form of Kaposi sarcoma].

Ned Tijdschr Geneeskd 2021 Aug 19;165. Epub 2021 Aug 19.

Amsterdam UMC, locatie AMC, afd. Dermatologie, Amsterdam Institute for Infection and Immunity (AII), Amsterdam.

Background: Kaposi sarcoma is an vascular neoplasm caused by infection with human herpesvirus-8. Known risk groups are Mediterranean, eastern European Jewish and African ancestry men or men with AIDS. Nowadays we distinguish more subgroups. Read More

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Association of RAD51 with Homologous Recombination Deficiency (HRD) and clinical outcomes in untreated triple-negative breast cancer (TNBC): analysis of the GeparSixto randomized clinical trial.

Ann Oncol 2021 Sep 11. Epub 2021 Sep 11.

Vall d'Hebron Institute of Oncology, Barcelona, Spain. Electronic address:

Background: Current genetic and genomic tests measuring homologous recombination deficiency (HRD) show limited predictive value. This study compares the performance of an immunohistology-based RAD51 test with genetic/genomic tests to identify patients with HRD primary triple-negative breast cancer (TNBC) and evaluates its accuracy to select patients sensitive to platinum-based neoadjuvant chemotherapy (NACT).

Patients And Methods: This is a retrospective, blinded, biomarker analysis from the GeparSixto randomized clinical trial. Read More

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September 2021

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Fam Cancer 2021 Sep 14. Epub 2021 Sep 14.

Institut de Cancérologie de l'Ouest, Unité d'Oncogénétique, Boulevard Professeur Jacques Monod, 44800, Saint- Herblain, France.

Lynch syndrome (LS) is a condition which predisposes individuals primarily to early-onset colorectal and endometrial cancer. LS is characterized by a germline pathogenic variant in one of the MMR (MisMatch Repair) gene, inducing a phenotype of microsatellite instability in the tumor, which may be associated with a loss of expression of MMR proteins detected by standard immunohistochemistry on tumor tissue. Most of the time, LS is inherited from a parent in whom the condition may not be known due to incomplete penetrance, but de novo pathogenic variant is a rare occurrence. Read More

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September 2021

Charcot-Marie-Tooth disease type 2CC due to variants causes a progressive, non-length-dependent, motor-predominant phenotype.

J Neurol Neurosurg Psychiatry 2021 Sep 13. Epub 2021 Sep 13.

Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK

Objective: Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).

Methods: In this large observational study, we present phenotype-genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families.

Results: The majority of patients presented in adulthood with motor-predominant and lower limb-predominant symptoms and the average age of onset was 31. Read More

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September 2021

[A periarteritisnodosa presenting as bilateral sub-acute limb ischemia of the legs].

Ann Cardiol Angeiol (Paris) 2021 Sep 10. Epub 2021 Sep 10.

Département de ChirurgieVasculaire, Université Mohammed Premier, Centre HospitalierUniversitaire Mohammed VI, Oujda.

Study's Goal: As there are no guidelines. This short report shows our experience in management of sub-acute limb ischemia with polyarteritisnodosa.

Introduction: Acute limb ischemia is rarely seen in periarteritisnodosa. Read More

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September 2021

A systemic mechanism of increased transendothelial migration of leukocytes through the blood-brain barrier in hepatic encephalopathy.

Clin Res Hepatol Gastroenterol 2021 Sep 10:101801. Epub 2021 Sep 10.

Sorbonne Université, INSERM, Centre de recherche Saint-Antoine (CRSA), Institute of Cardiometabolism and Nutrition (ICAN), F-75012 Paris, France; AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Service d'Hépato-Gastroentérologie, Unité de Soins Intensifs d'Hépatologie, Département de Neurologie, Unité de Médecine Intensive Réanimation à Orientation Neurologique, Brain Liver Pitié-Salpêtrière (BLIPS) Study Group, Groupe de Recherche Clinique en REanimation et Soins intensifs du Patient en Insuffisance Respiratoire aiguE (GRC-RESPIRE), F-75013 Paris, France. Electronic address:

Background: Hepatic encephalopathy (HE) is a frequent neurological complication of cirrhosis. Evidence suggests a synergic pathophysiological implication of hyperammonemia and systemic inflammation. In addition, the blood-brain barrier (BBB) permeability can be impaired in cirrhotic patients, notably in those displaying HE. Read More

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September 2021