Comment diagnostiquer une maladie liée aux sphingolipides ?

Le diagnostic repose sur des tests génétiques, des analyses biochimiques et des biopsies.

Quels tests sont utilisés pour évaluer les sphingolipides ?

Des tests sanguins et des analyses d'urine mesurent les niveaux de sphingolipides.

Les symptômes peuvent-ils indiquer un déséquilibre des sphingolipides ?

Oui, des symptômes neurologiques ou cutanés peuvent signaler un déséquilibre.

Quelle imagerie est utile pour les maladies des sphingolipides ?

L'IRM et la TDM peuvent aider à visualiser les effets des maladies sur les organes.

Les antécédents familiaux sont-ils importants pour le diagnostic ?

Oui, les antécédents familiaux peuvent indiquer une prédisposition génétique aux maladies.

Quels sont les symptômes des troubles liés aux sphingolipides ?

Les symptômes incluent des troubles neurologiques, des problèmes cutanés et des douleurs.

Les troubles digestifs sont-ils associés aux sphingolipides ?

Oui, certains troubles digestifs peuvent être liés à des anomalies des sphingolipides.

Comment les sphingolipides affectent-ils le système nerveux ?

Ils jouent un rôle dans la myélinisation et la signalisation neuronale, affectant la fonction nerveuse.

Les troubles de la peau sont-ils fréquents avec les sphingolipides ?

Oui, des affections cutanées comme l'eczéma peuvent être liées à des déséquilibres.

Les symptômes varient-ils selon le type de sphingolipide ?

Oui, les symptômes dépendent du type de sphingolipide impliqué et de l'organe affecté.

Peut-on prévenir les maladies liées aux sphingolipides ?

La prévention est difficile, mais un mode de vie sain peut réduire les risques.

Les tests génétiques aident-ils à la prévention ?

Oui, les tests génétiques peuvent identifier les personnes à risque et guider la prévention.

L'éducation sur les sphingolipides est-elle importante ?

Oui, comprendre les sphingolipides aide à reconnaître les symptômes et à agir rapidement.

Les habitudes alimentaires influencent-elles la santé des sphingolipides ?

Oui, une alimentation équilibrée peut soutenir la santé des sphingolipides et prévenir des troubles.

Les vaccinations peuvent-elles aider à prévenir des complications ?

Certaines vaccinations peuvent prévenir des infections qui aggravent les troubles liés aux sphingolipides.

Quels traitements existent pour les maladies des sphingolipides ?

Les traitements incluent des thérapies enzymatiques, des médicaments et des soins symptomatiques.

La diète peut-elle influencer les niveaux de sphingolipides ?

Oui, une alimentation riche en acides gras essentiels peut aider à réguler les sphingolipides.

Les médicaments peuvent-ils réduire les symptômes ?

Oui, certains médicaments peuvent atténuer les symptômes et améliorer la qualité de vie.

Y a-t-il des traitements expérimentaux pour ces maladies ?

Oui, des essais cliniques explorent de nouvelles thérapies pour les troubles des sphingolipides.

La thérapie génique est-elle une option pour ces maladies ?

La thérapie génique est en recherche pour traiter certaines maladies liées aux sphingolipides.

Quelles complications peuvent survenir avec les troubles des sphingolipides ?

Les complications incluent des troubles neurologiques graves, des infections et des défaillances organiques.

Les troubles respiratoires sont-ils une complication possible ?

Oui, certains troubles des sphingolipides peuvent entraîner des complications respiratoires.

Comment les sphingolipides affectent-ils le cœur ?

Des déséquilibres peuvent contribuer à des maladies cardiovasculaires et à des arythmies.

Les complications neurologiques sont-elles fréquentes ?

Oui, des complications comme la démence ou des troubles moteurs peuvent survenir.

Les complications peuvent-elles être réversibles ?

Certaines complications peuvent être gérées, mais d'autres peuvent être irréversibles.

Quels sont les facteurs de risque pour les maladies des sphingolipides ?

Les facteurs incluent des antécédents familiaux, des mutations génétiques et des déséquilibres nutritionnels.

L'âge influence-t-il le risque de troubles des sphingolipides ?

Oui, certains troubles apparaissent plus fréquemment chez les enfants ou les personnes âgées.

Les maladies auto-immunes sont-elles un facteur de risque ?

Oui, certaines maladies auto-immunes peuvent augmenter le risque de troubles liés aux sphingolipides.

Le mode de vie influence-t-il le risque ?

Oui, un mode de vie sédentaire et une mauvaise alimentation augmentent le risque.

Les infections peuvent-elles aggraver les troubles des sphingolipides ?

Oui, certaines infections peuvent exacerber les symptômes et les complications.

Sphingolipides - Informations médicales vérifiées

Conventional endoscopic mucosal resection versus modified endoscopic mucosal resection for duodenal neuroendocrine tumor.

05 2023

DOI: 10.1007/s00464-023-09885-z PMID: 36717428

As the incidence of duodenal neuroendocrine tumors (DNET) is steadily increasing, the role of endoscopic treatment for appropriate lesions is becoming more significant. We aimed to compare the outcome... Patients who underwent endoscopic treatment for DNET between June 2000 and December 2019 were included. The clinicopathologic features and treatment outcomes were investigated by reviewing medical rec... Overall, 104 cases underwent endoscopic resection for nonampullary DNET, including conventional EMR (n = 57), cap-assisted EMR (EMR-C, n = 19), and precut EMR (EMR-P, n = 28). The en bloc resection ra... Conventional EMR and modified EMR are feasible and effective for the treatment of nonampullary DNET sized < 10 mm and limited to mucosal and submucosal layer. Additionally, endoscopists should be awar...

Humans Endoscopic Mucosal Resection Neuroendocrine Tumors Duodenal Neoplasms Treatment Outcome +3 autres

Anchoring endoscopic mucosal resection versus conventional endoscopic mucosal resection for large nonpedunculated colorectal polyps: a randomized controlled trial.

02 2023

DOI: 10.1055/a-1884-7849 PMID: 35750321

BACKGROUND : Colorectal polyps > 10 mm in size are often incompletely resected. Anchoring-endoscopic mucosal resection (A-EMR) is the technique of making a small incision at the oral side of the polyp...

Humans Colonic Polyps Colonoscopy Endoscopic Mucosal Resection Colorectal Neoplasms

Standard Endoscopic Mucosal Resection vs Precutting Endoscopic Mucosal Resection Using Novel Disk-Tip Snare for Colorectal Lesions.

05 2023

DOI: 10.1007/s10620-023-07833-4 PMID: 36881195

SOUTEN (KANEKA Co., Tokyo, Japan) is a unique snare with a disk tip. We analyzed the efficacy of precutting endoscopic mucosal resection with SOUTEN (PEMR-S) for colorectal lesions.... We retrospectively reviewed 57 lesions of 10-30 mm treated with PEMR-S at our institution from 2017 to 2022. The indications were lesions that were difficult for standard EMR due to size, morphology, ... The polyp size was 16.5 ± 4.2 mm and the non-polypoid morphology rate was 80.7%. Histopathological diagnosis included 10 sessile-serrated lesions, 43 low-grade and high-grade dysplasias, and 4 T1 canc... PEMR-S achieved high en bloc resection of colorectal lesions of 20-30 mm though it leaded to long procedure time....

Humans Colonoscopy Retrospective Studies Endoscopic Mucosal Resection Adenoma +3 autres

Comparison of cold snare endoscopic mucosal resection and hot snare endoscopic mucosal resection for small colorectal polyps: a randomized controlled trial.

02 Sep 2024

DOI: 10.1038/s41598-024-71067-1 PMID: 39223224

Incomplete resection rates vary among endoscopists performing cold snare polypectomy. Cold snare endoscopic mucosal resection (CS-EMR) is the technique of cold resection after submucosal injection to ...

Humans Endoscopic Mucosal Resection Male Female Middle Aged +8 autres

Treatment of adenoma recurrence after endoscopic mucosal resection.

10 2023

DOI: 10.1136/gutjnl-2023-330300 PMID: 37414440

Residual or recurrent adenoma (RRA) after endoscopic mucosal resection (EMR) of large non-pedunculated colorectal polyps (LNPCPs) of ≥20 mm is a major limitation. Data on outcomes of the endoscopic tr... Over 139 months, detailed morphological and histological data on consecutive RRA detected after EMR for single LNPCPs at one tertiary endoscopy centre were prospectively recorded during structured sur... 213 (14.6%) patients had RRA (168 (78.9%) at first surveillance and 45 (21.1%) thereafter). RRA was commonly 2.5-5.0 mm (48.0%) and unifocal (78.7%). Of 202 (94.8%) cases which had macroscopic evidenc... RRA after EMR of LNPCPs can be effectively treated using simple endoscopic techniques with long-term adenoma remission of >90%; only 16% required retreatment. Therefore, more technically complex, morb... NCT01368289 and NCT02000141....

Humans Adenoma Colonic Polyps Colonoscopy Colorectal Neoplasms +3 autres

Endoscopic submucosal dissection versus endoscopic mucosal resection for early esophageal adenocarcinoma.

05 2023

DOI: 10.1016/j.clinre.2023.102138 PMID: 37169124

Endoscopic mucosal resection (EMR) and endoscopic submucosal dissection (ESD) allow endoscopic resection of early esophageal adenocarcinoma. The choice between the two techniques takes into account th... Patients who underwent an endoscopic resection for esophageal adenocarcinomas between March 2015 and December 2019 were included. ESD was compared to EMR in terms of clinical, procedural, histologic, ... 85 patients were included: 57 ESD and 28 EMR. The median (IQR) diameter of the lesion was 20(15-25) mm in the ESD group, and 15(8-16) mm in the EMR group, p<0.01. ESD allowed en bloc resection in 100%... ESD was as safe as EMR and allowed higher en bloc, R0 and curative resection rates. Although these results did not translate into long-term outcomes, these data prompt for a broader adoption of ESD fo...

Humans Barrett Esophagus Endoscopic Mucosal Resection Treatment Outcome Adenocarcinoma +2 autres

A novel tool for case selection in endoscopic mucosal resection training.

Dec 2023

DOI: 10.1055/a-2121-1148 PMID: 37391184

As endoscopic mucosal resection (EMR) of large (≥ 20 mm) adenomatous nonpedunculated colonic polyps (LNPCPs) becomes widely practiced outside expert centers, appropriate training is necessary to avoid... Consecutive EMRs were recruited from a single center over 130 months. Lesion characteristics, intraprocedural data, and adverse events were recorded. Challenging lesions with intraprocedural bleeding ... Of 1993 LNPCPs, 286 (14.4 %) were in challenging locations (anorectal junction, ileocecal valve, or appendiceal orifice), 368 (18.5 %) procedures were complicated by IPB and 77 (3.9 %) by IPP; 110 (5.... The EMR-CSS is a novel case selection tool for conventional EMR training, which identifies a subset of adenomatous LNPCPs that can be successfully and safely attempted in early EMR training....

Humans Endoscopic Mucosal Resection Colonic Polyps Adenomatous Polyps Adenoma +4 autres

Underwater Endoscopic Mucosal Resection Versus Conventional Endoscopic Mucosal Resection for Superficial Non-ampullary Duodenal Epithelial Tumors ≤20 mm: A Systematic Review With Meta-analysis.

01 10 2023

DOI: 10.1097/MCG.0000000000001763 PMID: 36084162

Underwater endoscopic mucosal resection (UEMR) is increasingly applied in the treatment of superficial non-ampullary duodenal epithelial tumors (SNADETs). This meta-analysis aimed to assess the effica... The following electronic databases were searched from 2012 until November 20, 2021: PubMed, Embase, Scopus, Web of Science databases, and Cochrane Library. The primary outcomes were the rates of en bl... A total of 6 studies with 679 lesions (331 underwent UEMR and 348 CEMR) were included in this study. The pooled analysis showed that UMER achieves a similar en bloc resection rate (87.6 vs. 89.9%; odd... This meta-analysis demonstrated that UEMR appears to be an effective and safe alternative to CEMR for SNADETs ≤20 mm....

Humans Endoscopic Mucosal Resection Intestinal Mucosa Treatment Outcome Duodenum +4 autres

Comparison between endoscopic mucosal resection with a cap and endoscopic submucosal dissection for rectal neuroendocrine tumors.

27 Jun 2022

DOI: 10.1186/s12893-022-01693-x PMID: 35761304

The aim of this study is to evaluate and compare the safety and efficacy of endoscopic mucosal resection with a cap (EMR-c) with those of endoscopic submucosal dissection (ESD) for rectal neuroendocri... A total of 122 patients who underwent EMR-c or ESD for R-NETs at the Fourth Hospital of Hebei Medical University between February 2007 and December 2020 were invovled in this study. The clinical outco... A total of 122 patients with 128 R-NETs underwent endoscopic resection (EMR-c, 80; ESD, 48). In terms of duration of operation, EMR-c was significantly shorter than ESD (p < 0.001). Univariate analysi... Both EMR-c and ESD were safe and effective treatments for R-NETs ≤ 15 mm in diameter. In addition, tumor diameter ≥ 8 mm was an independent risk factor for incomplete resection....

Endoscopic Mucosal Resection Humans Intestinal Mucosa Neuroendocrine Tumors Rectal Neoplasms +2 autres

A feasibility study comparing gel immersion endoscopic resection and underwater endoscopic mucosal resection for superficial nonampullary duodenal epithelial tumors.

03 2023

DOI: 10.1055/a-1924-4711 PMID: 35970190

Although gel immersion endoscopic resection (GIER) is a potential alternative to underwater endoscopic mucosal resection (UEMR) for superficial nonampullary duodenal epithelial tumors (SNADETs), compa... 40 consecutive procedures performed in 35 patients were retrospectively reviewed; the primary outcome was procedure time, and the secondary outcomes were en bloc and R0 resection rates, tumor and spec... Lesions were divided into GIER (n = 22) and UEMR groups (n = 18). The median (range) procedure time was significantly shorter in the GIER group than in the UEMR group (2.75 [1-3.5] minutes vs. 3 2 3 4... GIER is efficacious and safe to treat SNADETs, although additional studies are needed....

Humans Endoscopic Mucosal Resection Feasibility Studies Retrospective Studies Immersion +3 autres

Sphingolipides : Questions médicales fréquentes

Termes MeSH sélectionnés :

Questions fréquentes et termes MeSH associés

Diagnostic 5

Symptômes 5

Prévention 5

Traitements 5

Complications 5

Facteurs de risque 5

Contenu validé par Dr Olivier Menir

Sous-catégories

Glycosphingolipides

Glycosphingolipides acides

Glycosphingolipides neutres

Psychosine

Gangliosides

Sulfoglycosphingolipides

Céramides

Sphingomyéline

Ganglioside GM1

Ganglioside GM2

Ganglioside GM3

Cérébrosides

Globosides

Lactosylcéramides

Trihexosylcéramide

Galactosylcéramides

Glucosylcéramides

Auteurs principaux

Sources (10000 au total)