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Phosphotransferases (Phosphate Group Acceptor)
Phosphotransferases (Phosphate Group Acceptor) : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"@type": "Question",
"name": "Comment diagnostiquer une déficience en phosphotransférases ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests enzymatiques et des analyses biochimiques sont utilisés pour évaluer l'activité des phosphotransférases."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des phosphotransférases ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests de dosage enzymatique et les analyses de métabolites sont couramment utilisés."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec ces enzymes ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes métaboliques, comme la fatigue ou des troubles énergétiques, peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les tests génétiques sont-ils utiles pour le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier des mutations affectant les phosphotransférases."
}
},
{
"@type": "Question",
"name": "Peut-on diagnostiquer par imagerie des troubles liés aux phosphotransférases ?",
"position": 5,
"acceptedAnswer": {
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"text": "L'imagerie n'est pas spécifique, mais peut aider à évaluer des complications métaboliques."
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{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en phosphotransférases ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Fatigue, faiblesse musculaire, troubles de la croissance et anomalies métaboliques."
}
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{
"@type": "Question",
"name": "Les troubles neurologiques sont-ils liés aux phosphotransférases ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles neurologiques peuvent survenir en raison d'un métabolisme énergétique altéré."
}
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"@type": "Question",
"name": "Comment les symptômes varient-ils selon le type d'enzyme ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes dépendent de l'enzyme spécifique affectée et de son rôle métabolique."
}
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{
"@type": "Question",
"name": "Les symptômes apparaissent-ils à la naissance ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains symptômes peuvent apparaître à la naissance, tandis que d'autres se développent plus tard."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques aux enfants ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent présenter des retards de développement et des troubles de la croissance."
}
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en phosphotransférases ?",
"position": 11,
"acceptedAnswer": {
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"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes."
}
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"@type": "Question",
"name": "Les tests de dépistage néonatal sont-ils utiles ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests de dépistage néonatal peuvent identifier certaines déficiences précocement."
}
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"@type": "Question",
"name": "Y a-t-il des recommandations diététiques préventives ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des recommandations diététiques peuvent être établies pour les familles à risque."
}
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{
"@type": "Question",
"name": "Les conseils génétiques sont-ils importants ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques de transmission."
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{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider à prévenir des complications ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas directement les déficiences, mais protègent contre les infections."
}
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"@type": "Question",
"name": "Quels traitements sont disponibles pour les déficiences en phosphotransférases ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments nutritionnels et une gestion diététique."
}
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"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
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"text": "La thérapie génique est en recherche, mais pas encore largement disponible pour ces déficiences."
}
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"@type": "Question",
"name": "Les médicaments peuvent-ils aider à traiter ces déficiences ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments peuvent aider à gérer les symptômes, mais ne corrigent pas la déficience."
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"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux en cours ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études cliniques explorent de nouvelles approches thérapeutiques pour ces conditions."
}
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"@type": "Question",
"name": "Comment la gestion diététique aide-t-elle ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une gestion diététique peut aider à compenser les déficiences métaboliques et à améliorer la santé."
}
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{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces déficiences ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications métaboliques, neurologiques et de croissance peuvent se développer."
}
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"@type": "Question",
"name": "Les troubles cardiaques sont-ils une complication possible ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cardiaques peuvent survenir en raison d'un métabolisme énergétique altéré."
}
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{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications peuvent réduire la qualité de vie en limitant les activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies métaboliques ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes avec des déficiences en phosphotransférases peuvent avoir un risque accru de maladies métaboliques."
}
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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 connus."
}
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"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains facteurs environnementaux peuvent influencer l'expression des déficiences enzymatiques."
}
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{
"@type": "Question",
"name": "Les maladies auto-immunes sont-elles un facteur de risque ?",
"position": 28,
"acceptedAnswer": {
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"text": "Certaines maladies auto-immunes peuvent affecter le métabolisme et augmenter le risque."
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"@type": "Question",
"name": "L'alimentation peut-elle influencer le risque ?",
"position": 29,
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"text": "Une alimentation déséquilibrée peut exacerber les symptômes chez les personnes à risque."
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"name": "Les infections peuvent-elles aggraver la condition ?",
"position": 30,
"acceptedAnswer": {
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"text": "Oui, certaines infections peuvent déclencher ou aggraver les symptômes liés aux déficiences enzymatiques."
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Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous gastrointestinal polyps along with the characteristic mucocutaneous freckling. Multiple surgeries for recu...
From January 2015 to December 2023, we reviewed children of PJS, presented with recurrent intussusceptions. Data were collected regarding presentation, management, and follow-up with attention on mana...
A total of nine patients were presented with age ranging from 4 to 17 years (median 9 years). A total of eighteen laparotomies were performed (7 outside, 11 at our centre). Among 11 laparotomies done ...
Children with PJS have a high risk of multiple laparotomies due to polyps' complications. Considering the diffuse involvement of the gut, early decision of surgery and extensive bowel resection should...
To elucidate prognostic factors for post-recurrence survival in patients with pancreatic ductal adenocarcinoma (PDAC)....
Patients who underwent curative-intent surgery for PDAC between January 2014 and May 2020 were identified. Among them, patients who had postoperative recurrences and received chemotherapy were retrosp...
Eighty-four patients with recurrent PDAC were included. Multivariate analysis showed that red blood cell (RBC) transfusion (HR, 2.80; p = 0.0051), low albumin level (HR, 1.84; p = 0.0402), and high ca...
RBC transfusion, low albumin, and high CA19-9 levels at recurrence negatively affected survival after recurrence in patients with PDAC....
The primary aim of this study was to determine the prevalence of HPV in pterygium with polymerase chain reaction (PCR) testing and to investigate the relationship with clinicopathological factors. A s...
The study included 60 patients. PCR analysis was used to determine the presence of HPV. All the patients were followed up in respect of the development of recurrence. Analyses were performed of patien...
Of the total 60 patients, the HPV-PCR test result could not be analysed in 14 because of an insufficient sample. Of the 46 patients with sufficient material for HPV-PCR analysis, the HPV-PCR result wa...
HPV infection may have a role in the development of pterygium and recurrence, but may not be sufficient alone. HPV probably has a role in the development of pterygium by acting together with several c...
The objective of this study was to evaluate the clinical outcomes of the TissueTuck technique in the treatment of eyes with recurrent pterygium....
A retrospective review was performed on patients with recurrent pterygium who underwent surgical excision, followed by the application of cryopreserved amniotic membrane, using the TissueTuck techniqu...
A total of 44 eyes of 42 patients (age 60.5 ± 10.9 yrs) with single-headed (84.1%) or double-headed (15.9%) recurrent pterygium were included for analysis. The average surgical duration was 22.4 ± 8.0...
TissueTuck surgery with cryopreserved amniotic membrane is safe and effective for recurrent pterygium cases with a low risk of recurrence and complications....
This study aimed to examine whether the recurrence risk of hyperemesis gravidarum (HG) is modified by the timing of diagnosis, the severity of illness, and interpregnancy interval. The Kaiser Permanen...
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....
Primary hyperparathyroidism can be sporadic or part of a genetic syndrome, such as MEN1 or HPT-JT. Diagnosis of hereditary HPT requires a thorough history and physical. Parathyroidectomy is curative w...
Clubfoot is one of the common orthopaedic deformities. However, regardless of its' treatment high success rate, recurrence of the deformity is a serious issue. The aim of this study is to evaluate if ...
In the era of effective therapies in melanoma, notably the widespread use of two types of adjuvant treatments: anti-PD-1 immunotherapies and therapies targeting the mitogen-activated protein kinase pa...
Purpose of this study is to compare the clinical course and outcome of patients with recurrent versus first-episode infective endocarditis (IE)....
Patients with recurrent and first-episode IE enrolled in the EUROpean ENDOcarditis (EURO-ENDO) registry including 156 centres were identified and compared using propensity score matching. Recurrent IE...
3106 patients were enrolled: 2839 (91.4%) patients with first-episode IE (mean age 59.4 (±18.1); 68.3% male) and 267 (8.6%) patients with recurrent IE (mean age 58.1 (±17.7); 74.9% male). Among patien...
In-hospital and 1-year mortality was similar in patients with recurrent and first-episode IE who shared similar predictors of poor outcome....