questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Transferases
Acyltransferases
Acetyltransferases
N-terminal acetyltransferases
N-terminal acetyltransferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Neoplasm Recurrence, Local
Diagnostic
5
Acétylation
Tests génétiques
Biopsie
Analyse histologique
Protéines
Marqueurs biologiques
Imagerie médicale
Diagnostic
Symptômes
5
Troubles neurologiques
Anomalies métaboliques
Enzymes
Symptômes cliniques
Dermatologie
Éruptions cutanées
Troubles cognitifs
Métabolisme
Prévention
5
Prévention
Diagnostic précoce
Conseils génétiques
Risque héréditaire
Alimentation
Santé métabolique
Dépistage
Antécédents familiaux
Vaccination
Prévention des maladies
Traitements
5
Thérapie enzymatique
Approches diététiques
Suppléments nutritionnels
Métabolisme
Thérapie génique
Recherche
Médicaments
Fonction enzymatique
Traitements symptomatiques
Gestion des symptômes
Complications
5
Complications neurologiques
Complications métaboliques
Réversibilité
Gestion des complications
Maladies associées
Risque accru
Qualité de vie
Impact sur la santé
Soins palliatifs
Confort du patient
Facteurs de risque
5
Facteurs de risque
Mutations génétiques
Facteurs environnementaux
Prédispositions génétiques
Maladies auto-immunes
Dysfonction enzymatique
Sexe
Différences de genre
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"name": "Comment diagnostiquer une déficience en N-terminal acetyltransferases ?",
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"text": "Des tests génétiques et des analyses protéomiques peuvent identifier des anomalies."
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"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des N-terminal acetyltransferases ?",
"position": 2,
"acceptedAnswer": {
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"text": "Des tests enzymatiques mesurant l'acétylation des substrats spécifiques sont utilisés."
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{
"@type": "Question",
"name": "Les biopsies sont-elles nécessaires pour le diagnostic ?",
"position": 3,
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"name": "Peut-on utiliser l'imagerie pour le diagnostic ?",
"position": 5,
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{
"@type": "Question",
"name": "Quels symptômes sont associés à une déficience en N-terminal acetyltransferases ?",
"position": 6,
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme affectée ?",
"position": 7,
"acceptedAnswer": {
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"text": "Oui, chaque enzyme a des substrats spécifiques, entraînant des symptômes variés."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 8,
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"@type": "Question",
"name": "Les troubles cognitifs sont-ils liés à ces enzymes ?",
"position": 9,
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"@type": "Question",
"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 10,
"acceptedAnswer": {
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"text": "Pas toujours, certains symptômes peuvent se développer plus tard dans l'enfance ou l'adolescence."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les déficiences en N-terminal acetyltransferases ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent être utiles pour les familles à risque."
}
},
{
"@type": "Question",
"name": "L'alimentation peut-elle jouer un rôle préventif ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut soutenir la santé métabolique, mais ne prévient pas directement."
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{
"@type": "Question",
"name": "Des dépistages réguliers sont-ils conseillés ?",
"position": 14,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas les déficiences enzymatiques, mais protègent contre d'autres maladies."
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"@type": "Question",
"name": "Quels traitements sont disponibles pour les déficiences en N-terminal acetyltransferases ?",
"position": 16,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les suppléments nutritionnels peuvent-ils aider ?",
"position": 17,
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"name": "La thérapie génique est-elle une option ?",
"position": 18,
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"@type": "Question",
"name": "Les médicaments peuvent-ils améliorer la fonction enzymatique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments expérimentaux visent à améliorer l'activité des enzymes déficientes."
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"name": "Y a-t-il des traitements symptomatiques disponibles ?",
"position": 20,
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"text": "Oui, des traitements symptomatiques peuvent aider à gérer les manifestations cliniques."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
"acceptedAnswer": {
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"text": "Des complications neurologiques, métaboliques et immunitaires peuvent se développer."
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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
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"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
"acceptedAnswer": {
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"text": "Oui, les déficiences peuvent augmenter le risque de maladies métaboliques et neurologiques."
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"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients."
}
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"@type": "Question",
"name": "Des soins palliatifs sont-ils nécessaires ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans les cas graves, des soins palliatifs peuvent être nécessaires pour améliorer le confort."
}
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"@type": "Question",
"name": "Quels sont les facteurs de risque pour ces déficiences ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque clés."
}
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"@type": "Question",
"name": "L'âge joue-t-il un rôle dans le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains troubles se manifestent plus fréquemment chez les jeunes enfants."
}
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"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils le risque ?",
"position": 28,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les maladies auto-immunes sont-elles un facteur de risque ?",
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"acceptedAnswer": {
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"text": "Certaines maladies auto-immunes peuvent augmenter le risque de dysfonction enzymatique."
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
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Little information is available about the clinical and pathologic characteristics of local recurrence (LR) after nipple-sparing mastectomy according to the locations of LR....
This study classified 99 patients into the following two groups according to the location of LR after nipple-sparing mastectomy: nipple-areolar recurrence (NAR) group and other locations of LR (oLR) g...
For about half of the patients (44.4 %) with NAR, the primary cancer was estrogen receptor (ER)-negative and human epidermal growth factor receptor 2 (HER2)-positive. Conversely, in most of the patien...
This multi-institutional retrospective study demonstrated that the features of NAR, such as the characteristics of the primary and recurrent tumors and the prognostic factors after LR resection, were ...
Despite advances in perioperative management, recurrence after curative pancreatectomy is a critical issue in the treatment of pancreatic ductal adenocarcinoma (PDAC). The significance of local therap...
We reviewed the medical records of patients with PDAC who underwent curative resection at our institution between January 2009 and December 2019. We examined the patterns of relapse and assessed the c...
A total of 246 patients with PDAC who underwent R0 or R1 resection were included in this study. The 3-year overall survival (OS) rate was 39.8%, and the 1-year recurrence-free survival rate was 51.2% ...
Our results suggest that a multimodal approach may improve the clinical outcomes of patients with recurrent PDAC....
Skin cancer may recur at or around the surgical site despite wide excisions. Prompt clinical and sonographic detection of local recurrence is important since subjects with relapsing melanomas or nonme...
Pathological factors that influence and predict survival following pelvic exenteration (PE) for locally advanced (LARC) or locally recurrent rectal cancer (LRRC), especially LRRC, remain poorly unders...
A retrospective cohort study was performed for all patients undergoing a curative PE for LARC or LRRC between 2008 and 2021 at a tertiary referral UK specialist colorectal hospital. Cox regression ana...
388 patients were included in the analysis with 256 resections for LARC and 132 for LRRC. 62.4% of patients were male with a median age of 59 years (IQR 49-67). 247 (64%) partial pelvic exenterations ...
A positive resection margin and poorly differentiated tumours are significant negative prognostic markers for survival and recurrence in LARC. The results of this study support the need to look for al...
Using CODA, a technique for three-dimensional reconstruction of large tissues, Kiemen et al. report observation of a microscopic focus of pancreatic cancer found in the vasculature of grossly normal h...
The initial approach to the treatment of desmoid tumors has changed from surgical resection to watchful waiting. However, surgery is still sometimes considered for some patients, and it is likely that...
We sought to explore whether a combined molecular and clinical prognostic model for relapse in patients with desmoid tumors treated with surgery would allow us to identify patients who might do well w...
This was a retrospective, single-center study of 107 patients with desmoid tumors who were surgically treated between January 1980 and December 2015, with a median follow-up of 106 months (range 7 to ...
The multivariable analysis showed that S45F mutations (hazard ratio 5.25 [95% confidence interval 2.27 to 12.15]; p < 0.001) and tumor in the extremities (HR 3.15 [95% CI 1.35 to 7.33]; p = 0.008) wer...
CTNNB1 S45F mutations combined with other clinical variables are a potential prognostic biomarker associated with the risk of relapse in patients with desmoid tumors. The developed nomogram is simple ...
Level III, therapeutic study....
A first local recurrence is common after resection or radiotherapy for brain metastasis (BM). However, patients with BMs can develop multiple local recurrences over time. Published data on second loca...
Patients were identified from a database at Brigham and Women's Hospital in Boston. Hazard ratios and 95% confidence intervals for predictors of a second local recurrence were computed using a Cox pro...
Of 170 identified surgically treated first locally recurrent lesions, 74 (43.5%) progressed to second locally recurrent lesions at a median of 7 months after craniotomy. Subtotal resection of the firs...
A second local recurrence occurred after 43.5% of craniotomies for first recurrent lesions. Subtotal resection and infratentorial location were the strongest risk factors for worse second local recurr...
The current study was undertaken to provide more detailed prognostic models for early prediction of local recurrences and local recurrence free survival (RFS) using different radiologic and pathologic...
One hundred patients with locally advanced rectal carcinomas decided to receive neoadjuvant CRT were retrospectively recruited, Hazard ratios (HR) were determined in the two cox regression models and ...
HR of 1st group of models: T+N, T+N+G, T+N+G+S, T+N+G+S+PNI, and T+N+G+S+PNI+R were summated and categorized into scores, these scores were significantly correlated with the risk of recurrence (Somer'...
We propose that the addition of biologic factors to staging of rectal cancer provide precise stratification and association with local recurrences in patients received preoperative CRT....
This study aims to identify prognostic factors and define the best extent of surgery for optimizing treatment of local recurrence (LR) following colorectal cancer (CRC)....
An institutional database of consecutive patients who underwent radical resection (R0/R1) of LR following CRC was analyzed prospectively from 2010 to 2021 at one tertiary cancer center....
In this study, 75 patients were included with LR following CRC and analyzed. Patients were categorized as compartmental resections (CompRe) (n = 47) if all adjacent organs were systematically removed,...
Complete compartmental surgery is safe and improves local control. Optimal LR resection needs to remove all contiguous organs, with or without tumor involvement....
RET-fused mesenchymal neoplasms mostly affect the soft tissue of paediatric patients. Given their responsiveness to selective RET inhibitors, it remains critical to identify those extraordinary cases ...
Clinicopathological features were assessed and partner agnostic targeted next-generation sequencing on clinically validated platforms were performed. The patients were 18, 53, and 55 years old and inc...
Our study expands the clinicopathological and genetic spectrum of mesenchymal neoplasms associated with RET fusions....
