Certaines complications peuvent être réversibles avec un traitement approprié.
RéversibilitéTraitement approprié
#3
Comment les complications affectent-elles la qualité de vie ?
Les complications peuvent gravement affecter la qualité de vie et nécessiter un soutien.
Qualité de vieSoutien médical
#4
Y a-t-il des risques de maladies associées ?
Oui, des maladies métaboliques ou neurologiques peuvent être associées à cette déficience.
Maladies associéesDéficience enzymatique
#5
Comment prévenir les complications ?
Un suivi médical régulier et un traitement précoce peuvent aider à prévenir les complications.
Prévention des complicationsSuivi médical
Facteurs de risque
5
#1
Quels sont les facteurs de risque pour cette déficience ?
Les antécédents familiaux et certaines mutations génétiques augmentent le risque.
Antécédents familiauxMutations génétiques
#2
L'environnement joue-t-il un rôle ?
Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme.
Facteurs environnementauxExpression génétique
#3
Les maladies métaboliques augmentent-elles le risque ?
Oui, certaines maladies métaboliques peuvent prédisposer à des déficiences enzymatiques.
Maladies métaboliquesDéficiences enzymatiques
#4
Y a-t-il des groupes à risque particulier ?
Les personnes avec des antécédents familiaux de troubles lipidiques sont à risque.
Groupes à risqueTroubles lipidiques
#5
Comment le mode de vie influence-t-il le risque ?
Un mode de vie malsain peut exacerber les symptômes et augmenter le risque de complications.
Mode de vieRisque de complications
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"position": 1,
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"@type": "Question",
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"@type": "Question",
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"@type": "Question",
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"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en cette enzyme ?",
"position": 6,
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"text": "Les symptômes incluent des troubles neurologiques et des anomalies métaboliques."
}
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"name": "Y a-t-il des signes cliniques spécifiques ?",
"position": 7,
"acceptedAnswer": {
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"text": "Des signes comme des troubles de la croissance ou des problèmes de reproduction peuvent apparaître."
}
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"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
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{
"@type": "Question",
"name": "Peut-on prévenir les déficiences enzymatiques ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
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{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques pour prévenir des problèmes ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée riche en acides gras essentiels peut être bénéfique."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier les porteurs et aider à la planification familiale."
}
},
{
"@type": "Question",
"name": "Des programmes de sensibilisation existent-ils ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des programmes éducatifs peuvent sensibiliser aux troubles métaboliques héréditaires."
}
},
{
"@type": "Question",
"name": "Comment le suivi médical contribue-t-il à la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier permet de détecter précocement les anomalies et d'ajuster le traitement."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette déficience ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments lipidiques et une thérapie diététique."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais pas encore largement disponible."
}
},
{
"@type": "Question",
"name": "Des médicaments spécifiques existent-ils ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques approuvés pour cette condition."
}
},
{
"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une nutrition adéquate peut aider à gérer les symptômes et améliorer la santé globale."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux en cours ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études cliniques explorent de nouvelles approches thérapeutiques."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications neurologiques et métaboliques peuvent se développer si non traitées."
}
},
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"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être réversibles avec un traitement approprié."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications peuvent gravement affecter la qualité de vie et nécessiter un soutien."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de maladies associées ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies métaboliques ou neurologiques peuvent être associées à cette déficience."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi médical régulier et un traitement précoce peuvent aider à prévenir les complications."
}
},
{
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"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme."
}
},
{
"@type": "Question",
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"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines maladies métaboliques peuvent prédisposer à des déficiences enzymatiques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des groupes à risque particulier ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les personnes avec des antécédents familiaux de troubles lipidiques sont à risque."
}
},
{
"@type": "Question",
"name": "Comment le mode de vie influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie malsain peut exacerber les symptômes et augmenter le risque de complications."
}
}
]
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]
}
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India. jesuaraj@hotmail.com.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
d Laboratory of Molecular Biochemistry and Cell Biology, Department of Biochemistry, Rajendra Memorial Research Institute of Medical Sciences, Agamkuan, Patna 800007, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
d Laboratory of Molecular Biochemistry and Cell Biology, Department of Biochemistry, Rajendra Memorial Research Institute of Medical Sciences, Agamkuan, Patna 800007, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA. Electronic address: paul.sullam@ucsf.edu.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Chemistry, Interdisciplinary Institute of Indian System of Medicine, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Preclinical studies indicate that high-frequency oscillations, above 100 Hz (HFO:100-170 Hz), are a potential translatable biomarker for pharmacological studies, with the rapid acting antidepressant k...
To assess the effect of the uncompetitive NMDA antagonist ketamine, and of D-cycloserine (DCS), which acts at the glycine site on NMDA receptors on HFO in humans....
We carried out a partially double-blind, 4-way crossover study in 24 healthy male volunteers. Each participant received an oral tablet and an intravenous infusion on each of four study days. The oral ...
Compared with placebo, frontal midline HFO magnitude was increased by ketamine (p = 0.00014) and 1000 mg DCS (p = 0.013). Frontal gamma magnitude was also increased by both these treatments. However, ...
Our results suggest that, at high doses, a partial NMDA agonist (DCS) has similar effects on fast neural oscillations as an NMDA antagonist (ketamine). As HFO were induced without psychomimetic effect...
Learning and negative outcome expectations can increase pain sensitivity, a phenomenon known as nocebo hyperalgesia. Here, we examined how a targeted pharmacological manipulation of learning would imp...
We aimed to determine the breakpoint of cycloserine (CS) susceptibility in MGIT and to describe the molecular characteristics of CS-resistant Mycobacterium tuberculosis (MTB) isolates....
A total of 124 MTB isolates were recruited in our analysis. Minimum inhibitory concentration (MIC) was determined using the MGIT system. The mutations of MTB isolates within alr, ddl, ald, and cycA, p...
In vitro drug susceptibility testing of isolates with doubling concentrations of CS revealed that the modal MIC values was 4 mg/L for MGIT, accounting for 35.5% (44/124) of isolates tested. Seven isol...
In conclusion, we propose critical concentration for MGIT 960 to properly diagnose CS-resistant MTB and demonstrate that mutations in alr and ald genes are the major mechanism conferring CS resistance...
D-amino acids play an important role in cell wall peptidoglycan biosynthesis. Mycobacterium tuberculosis D-amino acid oxidase deletion led to reduced biofilm-forming ability. Other recent studies also...
Tuberculosis (TB) is the second leading cause of death by a single infectious disease behind COVID-19. Despite a century of effort, the current TB vaccine does not effectively prevent pulmonary TB, pr...
Although cycloserine is a recommended drug for the treatment of multidrug-resistant tuberculosis (MDR-TB) according to World Health Organization (WHO), few studies have reported on pharmacokinetics (P...
Repeated spaced TMS protocols, also termed accelerated TMS protocols, are of increasing therapeutic interest. The long-term potentiation (LTP)-like effects of repeated spaced intermittent theta-burst ...
We concurrently developed a prospective study to assess clinical outcomes among patients receiving 9-month bedaquiline (BDQ)-containing regimens, aiming to provide valuable data on the use of this sho...
This open-label, randomized, controlled, multicenter, non-inferiority trial was conducted at sixteen hospitals, and enrolled participants aged 18 years and older with pulmonary rifampicin/multidrug tu...
Between Jan 1, 2020, and Dec 31, 2023, 264 were screened and randomly assigned, 132 of 264 participants were assigned to the standard-regimen group and 132 were assigned to the shorter-regimen. Thirty...
The 9-month, all-oral regimen is safe and efficacious for the treatment of pulmonary rifampicin/multidrug-resistant tuberculosis. The high incidence of QTc prolongation associated with the use of BDQ ...
We review the literature on various strategies to augment cognitive-behavioral therapy (CBT). Although traditional pharmacotherapy has only a small additive effect, research demonstrates that it is po...
Chronic breathlessness in chronic obstructive pulmonary disease (COPD) is effectively treated with pulmonary rehabilitation. However, baseline patient characteristics predicting improvements in breath...
Data from 71 participants with mild-to-moderate COPD recruited to a randomised double-blind controlled experimental medicine study of D-cycloserine given during pulmonary rehabilitation were analysed ...
Only models that included brain imaging markers of breathlessness-expectation successfully predicted improvements in Dyspnoea-12 score (sensitivity 0.88, specificity 0.77). D-cycloserine was independe...
Brain activity to breathlessness related cues is a strong predictor of clinical improvement in breathlessness over pulmonary rehabilitation. This implies that expectation is key in breathlessness perc...