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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."
}
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{
"@type": "Question",
"name": "Peut-on diagnostiquer par imagerie des troubles liés aux phosphotransférases ?",
"position": 5,
"acceptedAnswer": {
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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."
}
},
{
"@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."
}
},
{
"@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": {
"@type": "Answer",
"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": {
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"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": {
"@type": "Answer",
"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,
"acceptedAnswer": {
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"text": "Une alimentation déséquilibrée peut exacerber les symptômes chez les personnes à risque."
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"@type": "Question",
"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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To evaluate the impact of elevator travel on intraocular pressure after vitreoretinal surgery with gas tamponade. Patients undergoing pars plana vitreoretinal surgery with and without gas insertion we...
To compare outcomes of 2 surgical techniques in children undergoing cataract surgery with intraocular lens (IOL) implantation: optic capture of IOL without anterior vitrectomy (AV) or in-the-bag IOL w...
Prospective randomized controlled trial....
Patients were randomized to 2 groups: optic capture without AV (group 1) or in-the-bag implantation with AV (group 2). The following variables were compared: visual axis opacification (VAO), inflammat...
Fifty-one eyes of 37 children were investigated with a mean follow-up of 20.1±8.5 months. Group 1 and group 2 had mean ages of 59.2±32.6 and 46.5±21.9 months, respectively (P = .104). Three eyes in gr...
The optic capture method was similar to the conventional technique in the quantitative evaluation of comprehensive data such as visual axis opacification, inflammatory sequelae, refractive outcomes, a...
To explore the presence of residual emulsified silicone oil (SO) droplets in patients with rhegmatogenous retinal detachment (RRD) and their possible risk factors....
Patients who underwent primary pars plana vitrectomy with SO injection for RRD and SO removal at the same eye centre were included. Approximately 10 weeks after SO removal, B-scan ultrasonography was ...
A total of 101 eyes were included. Residual SO particles were found in all the patients (100%), and the mean SOI was 4.04% ± 5.16% (range 0.06%-19.88%). Multiple linear regression revealed that, among...
Patients with a larger AL and higher IOP before SO removal were more prone to have more residual SO droplets, which might in turn lead to an elevated IOP. In these eyes, thorough irrigation or repeate...
To explore the perioperative nursing methods and clinical effects of vitrectomy under ophthalmoscope in the treatment of severe ocular rupture, this study reviews the clinical effects of vitrectomy in...
Endophthalmitis is a severe inflammation following surgery or endogenous spread of pathogens. Besides clinical signs and symptoms, standardized ultrasound might help to confirm the diagnosis. Thus, we...
Retrospective analysis of patients treated with pars-plana-vitrectomy for endophthalmitis at the University Eye Hospital was performed. Sex, age, VA at presentation, first day after surgery, four week...
A total of 172 patients (male = 47.7%) with a median age of 76 years (IQR 65-82 years) treated for endophthalmitis (exogenous = 85.5%) were included. Median follow-up time was 65 days (IQR 12-274 days...
Standardized ultrasound is an easy and robust tool in the diagnosis of endophthalmitis. Positive criteria are significantly associated with decreased VA at presentation. The recovery of VA depends on ...
To describe the anatomical and functional outcomes of patients with infectious keratitis (IK) and secondary endophthalmitis who underwent penetrating keratoplasty (PK) after pars plana vitrectomy (PPV...
An observational retrospective case series was performed. Data were collected from January 2013 to July 2020. Patients over 18 years old with a clinical and microbiological diagnosis of IK, and clinic...
A total of 32 eyes of 32 patients were analyzed. The anatomic success was obtained in 87.5% eyes in which the infection was eradicated. The 63% patients maintained or improved their best-corrected VA,...
Our results suggest that PPV assisted by TKP followed by PKP can be a good approach for treating patients with endophthalmitis secondary to IK while allowing further visual improvement after an optica...
With the technological advances, microincision pars plana vitrectomy is commonly used method for primary treatment of eyes with rhegmatogenous retinal detachment. Objective of this study is to evaluat...
This was a hospital based prospective observational study done in Tilganga Institute of Ophthalmology, Kathmandu, Nepal. All consecutive cases of rhegmatogenous retinal detachment who underwent primar...
Forty-nine eyes with rhegmatogenous retinal detachment treated with primary microincision pars plana vitrectomy with minimum follow up of at least 3 months were evaluated. Anatomical success was achie...
Microincision pars plana vitrectomy is an effective surgical method of primary treatment for rhegmatogenous retinal detachment with good anatomical and visual outcomes with minimal complications....
To evaluate the efficacy of the modified superior inverted internal limiting (ILM) membrane flap technique in retinal reattachment, macular hole closure and external retinal layers restoration in macu...
Retrospective case series of 10 patients that required pars plana vitrectomy for retinal detachment with macular hole followed for more than 12 months. Data from medical records were retrospectively c...
There were significant improvements in BCVA in both groups before and after surgery, with no differences between the two groups at 12 months after surgery (p=0.9). The macular hole closed in 100% of c...
ILM peeling and superior inverted flap techniques are useful for treating retinal detachment with macular hole in myopic eyes....
Juxtapapillary retinal capillary hemangiomas are sight-threatening hamartomas located on or adjacent to the optic nerve. Nonsurgical approaches including laser photocoagulation and cryotherapy have be...
To assess the risk of retinal displacement after scleral buckle (SB) versus pars plana vitrectomy with SB (PPV-SB)....
Multicenter prospective nonrandomized clinical trial....
The study took place at VitreoRetinal Surgery in Minneapolis, Minnesota, Sankara Nethralaya in Chennai, India, and St. Michael's Hospital in Toronto, Canada from July 2019 to February 2022. Patients w...
Ninety-one eyes were included in this study, of which 46.2% (42 of 91) had SB and 53.8% (49 of 91) underwent PPV-SB. Three months postoperatively, 16.7% (7 of 42) in the SB group and 38.8% (19 of 49) ...
Scleral buckle is associated with less retinal displacement compared with PPV-SB, indicating that traditional PPV techniques cause retinal displacement. There is a trend toward increased risk of retin...
The author(s) have no proprietary or commercial interest in any materials discussed in this article....