Titre : Chromatographie en phase liquide

Chromatographie en phase liquide : Questions médicales fréquentes

Termes MeSH sélectionnés :

Gain of Function Mutation
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échantillons biologiques pour détecter des substances spécifiques." } }, { "@type": "Question", "name": "Quels types d'échantillons peuvent être analysés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des échantillons de sang, d'urine, de tissus et d'autres fluides biologiques." } }, { "@type": "Question", "name": "Quels sont les avantages de cette méthode pour le diagnostic ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Elle offre une haute résolution et une grande sensibilité pour détecter des analytes." } }, { "@type": "Question", "name": "Peut-on utiliser cette technique pour des médicaments ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle est couramment utilisée pour analyser des médicaments dans le plasma." } }, { "@type": "Question", "name": "La chromatographie en phase liquide peut-elle détecter des toxines ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle est efficace pour identifier des toxines dans divers échantillons." } }, { "@type": "Question", "name": "Quels symptômes peuvent indiquer un besoin d'analyse par chromatographie ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Des symptômes inexpliqués, intoxications ou réactions indésirables aux médicaments." } }, { "@type": "Question", "name": "La chromatographie peut-elle aider à diagnostiquer des allergies ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut identifier des allergènes dans des échantillons biologiques." } }, { "@type": "Question", "name": "Quels symptômes sont liés à des déséquilibres hormonaux ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Fatigue, changements de poids, et irrégularités menstruelles peuvent être des indicateurs." } }, { "@type": "Question", "name": "Peut-on détecter des maladies métaboliques avec cette technique ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle permet d'analyser des 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programmes de dépistage des drogues et de surveillance des maladies infectieuses." } }, { "@type": "Question", "name": "La chromatographie peut-elle aider à prévenir les intoxications ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle permet d'analyser des aliments et des médicaments pour détecter des contaminants." } }, { "@type": "Question", "name": "Comment cette technique aide-t-elle à la recherche en santé publique ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Elle permet d'analyser des échantillons pour étudier l'épidémiologie des maladies." } }, { "@type": "Question", "name": "La chromatographie en phase liquide est-elle utilisée dans le traitement ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Indirectement, elle aide à surveiller les niveaux de médicaments dans le sang." } }, { "@type": "Question", "name": "Comment cette technique aide-t-elle à ajuster les traitements ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Elle permet de mesurer la concentration des médicaments pour optimiser les doses." } }, { "@type": "Question", "name": "Peut-on utiliser la chromatographie pour évaluer l'efficacité d'un traitement ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle permet de quantifier les biomarqueurs et les médicaments dans le corps." } }, { "@type": "Question", "name": "Quels traitements peuvent être surveillés par cette méthode ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements pour le cancer, les maladies infectieuses et les troubles psychiatriques." } }, { "@type": "Question", "name": "La chromatographie peut-elle aider à détecter des effets secondaires ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut identifier des métabolites associés à des effets indésirables." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir lors de l'utilisation de cette technique ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des erreurs d'analyse peuvent mener à des diagnostics erronés ou à des traitements inappropriés." } }, { "@type": "Question", "name": "La chromatographie peut-elle causer des effets indésirables ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Non, elle est une méthode analytique et ne cause pas d'effets indésirables directs." } }, { "@type": "Question", "name": "Quels risques sont associés à l'échantillonnage ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Des risques d'infection ou de complications liées à la collecte d'échantillons biologiques." } }, { "@type": "Question", "name": "Comment minimiser les complications lors de l'analyse ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "En suivant des protocoles stricts de manipulation et d'analyse des échantillons." } }, { "@type": "Question", "name": "Les résultats erronés peuvent-ils entraîner des complications cliniques ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des résultats incorrects peuvent mener à des traitements inappropriés et à des complications." } }, { "@type": "Question", "name": "Quels facteurs de risque influencent l'analyse par chromatographie ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "La qualité des échantillons, la technique utilisée et l'expérience de l'opérateur." } }, { "@type": "Question", "name": "L'âge peut-il être un facteur de risque pour certaines analyses ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines maladies sont plus fréquentes chez les personnes âgées, influençant les résultats." } }, { "@type": "Question", "name": "Les habitudes alimentaires affectent-elles les résultats ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'alimentation peut influencer les niveaux de métabolites détectés dans les échantillons." } }, { "@type": "Question", "name": "Le mode de vie peut-il impacter les résultats d'analyse ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le tabagisme, l'alcool et d'autres facteurs de mode de vie peuvent affecter les résultats." } }, { "@type": "Question", "name": "Les médicaments pris peuvent-ils influencer les résultats ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains médicaments peuvent interférer avec les analyses et fausser les résultats." } } ] } ] }

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 ...