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": 6,
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}
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"@type": "Question",
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"name": "Y a-t-il des conseils diététiques pour prévenir des problèmes ?",
"position": 12,
"acceptedAnswer": {
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"text": "Une alimentation équilibrée riche en acides gras essentiels peut être bénéfique."
}
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{
"@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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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être réversibles avec un traitement approprié."
}
},
{
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"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."
}
},
{
"@type": "Question",
"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,
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"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme."
}
},
{
"@type": "Question",
"name": "Les maladies métaboliques augmentent-elles le risque ?",
"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",
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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" :
Is there nowadays any benefit of continuing the practice of routine wide local excision (WLE) for primary stage I/II cutaneous melanoma?...
WLE aims to eradicate potential microsatellites around melanomas and thereby reduce local recurrence rates and improve overall survival. Six large prospective randomised trials investigated WLE versus...
A literature search was performed to identify data on outcome after omitting WLE. Additionally circumstantial evidence was gathered from pathology studies and outcomes of modified surgical techniques,...
No prospective and one retrospective study was found. The retrospective study showed no difference in OS after correction for confounding factors. Pathology studies showed a low incidence of residual ...
There is no solid prospective evidence to support the classic dogma of a 2-step approach with the use of WLE for primary cutaneous melanoma that has been completely excised on diagnostic excision biop...
Treatment of high-grade osteosarcoma (OS) relies on a combination of systemic chemotherapy and radical surgical excision of the tumor. Little is known on what happens in case of an irrefutably inadequ...
A retrospective study from the Scandinavian Sarcoma Group registry and the Royal Orthopaedic Hospital databases including data from 53 patients surgically treated between the years 1990 and 2017....
Local recurrence was observed in 13/53 patients. All patients with local recurrence where the neoadjuvant chemotherapy response could be retrieved (n = 9) were shown to be poor responders. None of the...
Good response to chemotherapy salvages the outcome of surgical excision with a poor margin in patients with high-grade OSs and a watchful waiting strategy may be justified in these cases. Poor respond...
Staged excision has emerged as a superior treatment option for lentigo maligna (LM) of the head and neck when compared with conventional wide local excision. Assessing surgical excision margins for re...
To determine whether immunohistochemical (IHC) staining with SOX10 and preferentially expressed antigen in melanoma (PRAME) aids in diagnosing LM on excision margins compared with conventional hematox...
This study included cases of LM of the head and neck treated with staged excision. Histological findings were reviewed according to standard criteria for the diagnosis of LM and compared with the resu...
The cohort consisted of 35 sections. Based on hematoxylin and eosin and Melan A IHC staining, 23 sections were diagnosed as LM by the initial pathologist. Further staining with SOX10 IHC showed only 8...
SOX10 is a more specific and sensitive marker for melanocytes when assessing for LM on excision margins compared with Melan A. The addition of PRAME can be useful to confirm or exclude the diagnosis i...
It is recommended to excise adnexal neoplasms with standard local excision or Mohs micrographic surgery (MMS), although many occur on high-risk sites such as the head and neck (H&N) and exhibit subcli...
To evaluate the rate of positive surgical margins after standard excision of adnexal tumors....
Retrospective cohort study of cutaneous adnexal malignancies from the National Cancer Database diagnosed from 2004 to 2019....
The authors identified a total of 4,402 cases treated with standard excision. Tumors on the H&N were approximately twice as likely as those on the trunk and extremities (T&E) to be excised with positi...
The authors present subtype- and site-specific positive margin rates for adnexal tumors treated with standard excision, which suggest that tumors on the H&N and some T&E subtypes, should be considered...
Nevus spilus, or speckled lentiginous nevus, is a relatively common lesion that presents at birth or in early childhood. It consists of a background tan patch, which appears similar to a café au lait ...
Vulvar melanoma is a rare malignancy with frequent recurrence and poor prognosis. National guidelines recommend wide local excision of these tumors with allowances for narrower margins for anatomic an...
We aim to evaluate the rate of positive margins after standard excision of vulvar melanomas....
Retrospective cohort study of surgically excised vulvar melanomas from the NCDB diagnosed from 2004 to 2019....
We identified a total of 2,226 cases. Across surgical approaches and tumor stages, 17.2% (Standard Error [SE]: 0.8%) of cases had positive surgical margins. Among tumor stages, T4 tumors were most com...
We find that positive margin rates after standard excision of vulvar malignancies are higher than for other specialty site melanomas. Our data suggest that use of surgical approaches with complete mar...
Circumferential resection margin is an important prognosticator for total mesorectal excision outcome. We investigated the status of mesorectal fascia on magnetic resonance imaging compared with circu...
This was a retrospective analysis of a prospective database of rectal cancer patients who underwent surgery. Mesorectal fascia status on magnetic resonance imaging done before neoadjuvant therapy and ...
In total, 244 patients (average follow-up of 25.4 months) were included. Eighty-one (33.2%) patients had potentially involved mesorectal fascia in magnetic resonance imaging and 12 (4.9%) had involved...
Change of clear mesorectal fascia in magnetic resonance imaging to an involved circumferential resection margin in pathology was recorded in 2.8% of patients; abdominoperineal resection might be assoc...
Pathological involvement of cervical conization margins is a risk factor for recurrence, although management of these patients is controversial. We aimed to define risk factors for positive margins an...
A retrospective study of all conizations at our center between 2010 and 2019. Univariate analysis identified characteristics associated with positive margins. Women were stratified by mode of manageme...
Of 448 conizations performed, 131 (29.2%) had positive margins which were associated with menopause, high-grade cytology and endocervical gland involvement. Women who underwent surveillance (n = 45) w...
Surveillance is non-inferior to additional surgery in cases with positive conization margins and constitutes a valid option specifically for younger women at risk of future obstetric complications and...
Malignant polyps are examined to assess histological features which predict residual tumour in the unresected bowel and guide surgical decision-making. One of the most important of these features is r...
One hundred and sixty-five malignant polyps removed endoscopically were identified and histological features correlated with either residual tumour in subsequent surgical resections or tumour recurren...
Definitions of margin involvement for endoscopically removed malignant polyps in the colon and rectum vary between health-care systems, but a 1-mm clearance is widely used in Europe and North America....
Although adult guidelines are often applied to children, age-specific surgical margins have not been defined for pediatric melanoma....
Patients <20 years of age with invasive, cutaneous melanoma were identified using the 2004-2016 National Cancer Database and categorized as undergoing wide (>1 cm) or narrow (≤1 cm) excision. Un...
In total, 2081 patients met study criteria: 1338 (64.3%) patients underwent wide excision whereas 743 (35.7%) underwent narrow excision. Unadjusted OS was improved in the narrow-excision group (log-ra...
In this analysis, wide excision (>1 cm) does not appear to be associated with improved survival in children with melanoma regardless of tumor characteristics. Although further studies are needed to...