Titre : Épistaxis

Épistaxis : Questions médicales fréquentes

Termes MeSH sélectionnés :

Gain of Function Mutation
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"https://questionsmedicales.fr/mesh/D004844?mesh_terms=Gain+of+Function+Mutation&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Épistaxis", "description": "Quels sont les facteurs de risque de l'épistaxis ?\nLe tabagisme augmente-t-il le risque d'épistaxis ?\nLes traumatismes nasaux sont-ils un facteur de risque ?\nLes infections respiratoires peuvent-elles causer l'épistaxis ?\nL'hypertension est-elle un facteur de risque ?", "url": "https://questionsmedicales.fr/mesh/D004844?mesh_terms=Gain+of+Function+Mutation&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une épistaxis ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen physique et l'historique médical du patient." } }, { "@type": "Question", "name": "Quels tests sont nécessaires pour l'épistaxis ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests sanguins peuvent être effectués pour évaluer la coagulation sanguine." } }, { "@type": "Question", "name": "Quand consulter un spécialiste pour épistaxis ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Consultez un ORL si les saignements sont fréquents ou sévères." } }, { "@type": "Question", "name": "Quels signes indiquent une épistaxis grave ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des saignements abondants, des vertiges ou une perte de conscience nécessitent une attention immédiate." } }, { "@type": "Question", "name": "L'imagerie est-elle nécessaire pour l'épistaxis ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'imagerie est rarement nécessaire, sauf en cas de suspicion de lésion sous-jacente." } }, { "@type": "Question", "name": "Quels sont les symptômes de l'épistaxis ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent un saignement nasal, parfois accompagné de douleur ou de congestion." } }, { "@type": "Question", "name": "L'épistaxis peut-elle causer des douleurs ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'épistaxis peut être accompagnée de douleurs au nez ou de sensations de pression." } }, { "@type": "Question", "name": "Peut-on avoir des saignements bilatéraux ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'épistaxis peut survenir dans une ou les deux narines, selon la cause." } }, { "@type": "Question", "name": "Y a-t-il des signes d'infection avec l'épistaxis ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Des signes d'infection peuvent inclure des écoulements purulents ou de la fièvre." } }, { "@type": "Question", "name": "L'épistaxis peut-elle être chronique ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines personnes peuvent souffrir d'épistaxis récurrente ou chronique." } }, { "@type": "Question", "name": "Comment prévenir l'épistaxis ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Évitez les irritants nasaux, hydratez-vous et utilisez un humidificateur d'air." } }, { "@type": "Question", "name": "Les allergies peuvent-elles causer l'épistaxis ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les allergies peuvent provoquer une inflammation et des saignements du nez." } }, { "@type": "Question", "name": "Faut-il éviter de se moucher fort ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, se moucher trop fort peut provoquer ou aggraver une épistaxis." } }, { "@type": "Question", "name": "Les médicaments anticoagulants augmentent-ils le risque ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les anticoagulants peuvent augmenter le risque d'épistaxis en affectant la coagulation." } }, { "@type": "Question", "name": "Comment maintenir l'humidité nasale ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Utilisez des sprays salins ou des gels pour garder les muqueuses nasales hydratées." } }, { "@type": "Question", "name": "Comment traiter une épistaxis légère ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Pour une épistaxis légère, il est conseillé de se pencher en avant et de pincer le nez." } }, { "@type": "Question", "name": "Quels médicaments peuvent aider l'épistaxis ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Des décongestionnants ou des sprays nasaux peuvent être utilisés pour réduire l'inflammation." } }, { "@type": "Question", "name": "Quand utiliser un cautérisateur pour l'épistaxis ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Un cautérisateur est utilisé pour sceller les vaisseaux sanguins en cas de saignements persistants." } }, { "@type": "Question", "name": "Les antibiotiques sont-ils nécessaires pour l'épistaxis ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Les antibiotiques ne sont pas généralement nécessaires, sauf en cas d'infection associée." } }, { "@type": "Question", "name": "Quelles interventions chirurgicales existent pour l'épistaxis ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des interventions comme l'embolisation des vaisseaux peuvent être nécessaires pour les cas graves." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec l'épistaxis ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent l'anémie, l'infection ou des problèmes respiratoires graves." } }, { "@type": "Question", "name": "L'épistaxis peut-elle entraîner une perte de sang importante ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une épistaxis sévère peut entraîner une perte de sang significative et nécessiter une intervention." } }, { "@type": "Question", "name": "Peut-on avoir des séquelles après une épistaxis ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Des séquelles sont rares, mais des problèmes de coagulation peuvent persister." } }, { "@type": "Question", "name": "L'épistaxis peut-elle causer des infections ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des infections peuvent survenir si des bactéries pénètrent par les muqueuses endommagées." } }, { "@type": "Question", "name": "Quels sont les risques d'une épistaxis chronique ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "L'épistaxis chronique peut entraîner des complications comme l'anémie ou des troubles de la coagulation." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque de l'épistaxis ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent la sécheresse de l'air, les allergies, et l'utilisation de médicaments anticoagulants." } }, { "@type": "Question", "name": "Le tabagisme augmente-t-il le risque d'épistaxis ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le tabagisme peut irriter les muqueuses nasales et augmenter le risque de saignement." } }, { "@type": "Question", "name": "Les traumatismes nasaux sont-ils un facteur de risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traumatismes au nez, comme les coups ou les chutes, augmentent le risque d'épistaxis." } }, { "@type": "Question", "name": "Les infections respiratoires peuvent-elles causer l'épistaxis ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les infections respiratoires peuvent provoquer une inflammation et des saignements du nez." } }, { "@type": "Question", "name": "L'hypertension est-elle un facteur de risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'hypertension peut augmenter le risque d'épistaxis en exerçant une pression sur les vaisseaux sanguins." } } ] } ] }

Sources (10000 au total)

Clinical azole cross-resistance in Candida parapsilosis is related to a novel MRR1 gain-of-function mutation.

Hereby, we describe the molecular mechanisms underlying the acquisition of azole resistance by a Candida parapsilosis isolate following fluconazole treatment due to candiduria.... A set of three consecutive C. parapsilosis isolates were recovered from the urine samples of a patient with candiduria. Whole-genome sequencing and antifungal susceptibility assays were performed. The... The initial isolate CPS-A was susceptible to all three azoles tested (fluconazole, voriconazole and posaconazole); isolate CPS-B, collected after the second cycle of treatment, exhibited a susceptible... Our results describe clinical azole cross-resistance acquisition in C. parapsilosis due to a G1810A (G604R) gain-of-function mutation, resulting in MRR1 hyperactivation and consequently, MDR1 efflux p...

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.

Heterozygous STAT1 Gain-of-Function (GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC) among Inborn Errors of Immunity. Clinically, these mutations manifest as a broa... We analyzed clinical presentations, cellular phenotypes, and functional impacts in five Taiwanese patients with STAT1 GOF.... We identified two novel GOF mutations in 5 patients from 2 Taiwanese families, presenting with symptoms of CMC, late-onset rosacea, and autoimmunity. The enhanced phosphorylation and delayed dephospho... Our study provides the first comprehensive clinical and molecular characteristics in STAT1 GOF patient in Taiwan and highlights the dysregulated T and B cells subsets which may hinge the autoimmunity ...

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.

To further elucidate the clinical, immunological and genetic features of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation in the Chinese population.... Clinical data for a proband were collected, and pedigree analyses were performed. Whole-exome sequencing and targeted Sanger sequencing were conducted to explore genetic factors of a Chinese pedigree ... An autosomal dominant CMC pedigree was identified, and both the proband and his father had mucocutaneous Candida infections without involvement of other systems. A rare mutation (c.T1175C) in STAT1 wa... STAT1 GOF mutation at c.T1175C (p.M392T) may lead to mucocutaneous Candida infections and an increase in serum IFN-α. T385M in the DNA-binding domain is the most common STAT1 GOF mutation found in the...

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Although the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation subtypes on disease progression remained unclear. This study a... We included 639 patients treated with PDAC in Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine between Jan 2019 and Jun 2021. The genomic alterations of PDAC were analyzed... TP53 missense mutation was significantly associated with poor differentiation in KRAS... TP53 missense mutation was associated with poor tumor differentiation, and revealed gain-of-function properties in small-sized KRAS transformed PDAC. Nonetheless, it was not associated with insensitiv...

Gain-of-function p.F28S variant in

We investigated an early adolescent female with intellectual disability, drug-responsive epilepsy and white matter abnormalities. Through exome sequencing, we identified the novel de novo variant (NM_... In vitro analyses revealed that the p.F28S variant was spontaneously activated by substantially increased intrinsic GTP/GDP-exchange activity and bound to downstream effectors tested, such as PAK1 and... Our results indicate that RAC3 is critical for brain development and the p.F28S variant causes morphological and functional defects in cortical neurons, likely due to the hyperactivation of PAK1....

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.

Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence i... Hereby, we report on a four-generation Italian family with DA5. Our first proband was a newborn with prenatal suspicion of AMC. At birth, clinical findings were compatible with a DA diagnosis. Family ... Our patients contribute to the current DA5 genomic database, and to a better characterization of the disease. Clinicians may have suspicion of a DA diagnosis based on suggestive (also prenatal) clinic...

EZH2 W113C is a gain-of-function mutation in B-cell lymphoma enabling both PRC2 methyltransferase activation and tazemetostat resistance.

Polycomb repressive complex 2 (PRC2) suppresses gene transcription by methylating lysine 27 of histone H3 (H3K27) and plays critical roles in embryonic development. Among the core PRC2 subunits, EZH2 ...