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"description": "Comment diagnostiquer une anomalie des sulfoglycosphingolipides ?\nQuels tests sont utilisés pour évaluer les sulfoglycosphingolipides ?\nLes imageries sont-elles utiles dans le diagnostic ?\nY a-t-il des marqueurs spécifiques pour ces lipides ?\nLe diagnostic nécessite-t-il une consultation spécialisée ?",
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"description": "Quels traitements sont disponibles pour les troubles liés aux sulfoglycosphingolipides ?\nLes médicaments peuvent-ils aider à gérer les symptômes ?\nY a-t-il des traitements expérimentaux disponibles ?\nLa diététique joue-t-elle un rôle dans le traitement ?\nLes traitements sont-ils personnalisés selon le patient ?",
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"description": "Quelles complications peuvent survenir avec ces troubles ?\nLes complications sont-elles réversibles ?\nY a-t-il un risque accru de maladies associées ?\nLes complications affectent-elles la qualité de vie ?\nComment gérer les complications à long terme ?",
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"description": "Quels sont les principaux facteurs de risque ?\nL'environnement joue-t-il un rôle dans ces troubles ?\nLes habitudes alimentaires influencent-elles le risque ?\nY a-t-il des groupes à risque particulier ?\nLe mode de vie affecte-t-il le risque de troubles ?",
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"@type": "Question",
"name": "Comment diagnostiquer une anomalie des sulfoglycosphingolipides ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic se fait par des tests biochimiques et génétiques pour évaluer les niveaux de sulfoglycosphingolipides."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer les sulfoglycosphingolipides ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des analyses de sang et des biopsies tissulaires peuvent être effectuées pour mesurer les niveaux."
}
},
{
"@type": "Question",
"name": "Les imageries sont-elles utiles dans le diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des techniques d'imagerie peuvent aider à visualiser les effets des anomalies sur les organes."
}
},
{
"@type": "Question",
"name": "Y a-t-il des marqueurs spécifiques pour ces lipides ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des marqueurs biochimiques spécifiques peuvent indiquer des déséquilibres dans les sulfoglycosphingolipides."
}
},
{
"@type": "Question",
"name": "Le diagnostic nécessite-t-il une consultation spécialisée ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une consultation avec un spécialiste en métabolisme lipidique est souvent nécessaire."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une dysfonction des sulfoglycosphingolipides ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent inclure des troubles neurologiques, des problèmes de peau et des douleurs abdominales."
}
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent se manifester différemment selon l'âge et le stade de la maladie."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques à surveiller ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes comme des troubles cognitifs ou des anomalies de la peau doivent être surveillés."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils toujours présents ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, certains patients peuvent avoir des symptômes intermittents ou légers."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils s'aggraver avec le temps ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, sans traitement, les symptômes peuvent s'aggraver progressivement."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les troubles liés aux sulfoglycosphingolipides ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un diagnostic précoce et un suivi régulier peuvent aider."
}
},
{
"@type": "Question",
"name": "Y a-t-il des mesures préventives recommandées ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des conseils génétiques et un suivi médical régulier sont recommandés pour les familles à risque."
}
},
{
"@type": "Question",
"name": "L'éducation des patients est-elle importante ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'éducation sur les symptômes et les risques peut aider à une détection précoce."
}
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{
"@type": "Question",
"name": "Les tests de dépistage sont-ils utiles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests de dépistage peuvent identifier les personnes à risque avant l'apparition des symptômes."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie influencent-elles la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des habitudes de vie saines peuvent contribuer à réduire le risque de complications."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour les troubles liés aux sulfoglycosphingolipides ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent des thérapies enzymatiques et des approches symptomatiques."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent soulager les symptômes associés aux déséquilibres lipidiques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux disponibles ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements expérimentaux, comme la thérapie génique, sont en cours d'évaluation."
}
},
{
"@type": "Question",
"name": "La diététique joue-t-elle un rôle dans le traitement ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation équilibrée peut aider à gérer certains symptômes et à améliorer la santé globale."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés selon le patient ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements sont souvent adaptés en fonction des besoins spécifiques de chaque patient."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces troubles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes d'organes."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être irréversibles."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir un risque accru de maladies métaboliques et cardiovasculaires."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications à long terme ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une gestion multidisciplinaire et un suivi régulier sont essentiels pour les complications à long terme."
}
},
{
"@type": "Question",
"name": "Quels sont les principaux facteurs de risque ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle dans ces troubles ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des facteurs environnementaux peuvent influencer l'expression des troubles lipidiques."
}
},
{
"@type": "Question",
"name": "Les habitudes alimentaires influencent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation riche en graisses saturées peut augmenter le risque de complications."
}
},
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"@type": "Question",
"name": "Y a-t-il des groupes à risque particulier ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes avec des antécédents familiaux de troubles lipidiques sont à risque accru."
}
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{
"@type": "Question",
"name": "Le mode de vie affecte-t-il le risque de troubles ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un mode de vie sédentaire et le stress peuvent augmenter le risque de complications."
}
}
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This study investigated the clinicopathological characteristics and treatment of appendix neuroendocrine neoplasms in appendectomy specimens of our center....
The clinicopathological data, including age, sex, preoperative clinical manifestation, surgical method, and histopathological examination results of 11 patients with appendix neuroendocrine neoplasms ...
In the histopathological examination of 7277 appendectomy specimens, 11 cases (0.2%) had appendix neuroendocrine neoplasms. Among the 11 patients, 8(72.7%) were males, and 3(27.3%) were females, with ...
Appendiceal neuroendocrine neoplasms are low-grade malignant tumors originating from neuroendocrine cells. They are rarely seen in clinical practice and are often treated based on acute and chronic ap...
Collision tumor of the appendix is an extremely rare entity, defined as the coexistence of two independent tumors located in the same site without transitional changes. We describe in this report the ...
The aim of this study was to investigate the mutations in mucinous adenocarcinoma of the appendix (MAA). SNV was detected in 15 patients with MAA, Gene Ontology (GO), Kyoto Encyclopedia of Genes and G...
Carcinoid tumours are present in a wide range of organs but most frequently involve the gastrointestinal tract and rarely reported in gynaecological organs. Literature reports that the prevalence of o...
Migraine with cranial autonomic symptoms is well described in the literature, but its prevalence in previous studies varies enormously. A precise estimate of the prevalence in a population-based mater...
The Danish Blood Donor Study included 127,802 persons who all received a migraine diagnostic questionnaire. Participants who had answered the diagnostic questionnaire constituted the Danish Migraine P...
The questionnaire-based prevalences of one, respectively two cranial autonomic symptoms were 57% and 31%. The semi-structured interview-based prevalences of one, respectively two symptoms were 44% and...
Migraine with cranial autonomic symptoms is prevalent in the general population. Suggested diagnostic appendix criteria are important for future studies of this possible migraine endophenotype....
This study reports an exceptional case of a 14-year-old girl with sickle cell disease that was diagnosed with agenesis of the vermiform appendix and ileal duplication. Both consist of extremely rare g...
Appendicitis is one of the most common causes of acute abdominal surgery in children. The clinical course of appendicitis ranges from simple to complex appendicitis. The mechanisms underlying the hete...
To characterize appendiceal T cells in simple and complex appendicitis we performed in-depth immunophenotyping of appendiceal-derived T cells by flow cytometry and correlated this to appendiceal-deriv...
Appendix samples of twenty children with appendicitis (n = 8 simple, n = 12 complex) were collected. T cells in complex appendicitis displayed an increased differentiated phenotype compared to simple ...
In conclusion, disruption of local T cell responses, and enhanced pro-inflammatory Th17 responses correlating to changes in the appendiceal microbiota were observed in children with complex compared t...
Appendicitis is a common cause of acute abdomen. Rarely, it may form adhesions to nearby structures, complicating surgeries, especially when involving vascular structures such as the internal iliac ar...
A 65-year-old Middle Eastern male presented with abdominal pain and anorexia for 5 days. Examination and imaging confirmed acute appendicitis with complications. Additionally, a large pelvic mass was ...
This case highlights a rare vascular complication of appendectomy due to abnormal adhesions between the appendix and the internal iliac artery, associated with a large pelvic mass. This study emphasiz...
To evaluate the survival outcomes of appendectomy for a grossly normal appendix in patients with mucinous ovarian carcinomas....
Retrospective cohort study. Patients with mucinous ovarian carcinomas with grossly normal appendices who underwent primary surgery between 2002 and 2022 were enrolled. The overall survival (OS) and pr...
Of 192 patients, appendectomy was performed in 138 (71.9%). Three (1.6%) patients had primary appendiceal tumors and two (1.0%) had appendiceal metastases of ovarian origin. The median follow-up time ...
Appendectomy of a grossly normal appendix was not an independent prognostic factor for OS and PFS in patients with mucinous ovarian carcinomas....
The goal of this study was to characterize contemporary performance benchmarks and risk factors associated with negative appendectomy (NA) in children with suspected appendicitis....
A multicenter retrospective cohort analysis of children undergoing appendectomy for suspected appendicitis was performed using data from the 2016-2021 NSQIP-Pediatric Appendectomy Targeted Public Use ...
100,322 patients were included from 140 hospitals. The overall NA rate was 2.4%, and rates decreased significantly during the study period (2016: 3.1% vs. 2021: 2.3%, p < 0.001). In adjusted analyses,...
Contemporary NA rates have decreased over time, however NA risk remains high in children without a leukocytosis, particularly for girls and children <5 years of age. These data provide contemporary pe...
III....