Comment diagnostique-t-on une erreur métabolique lipidique ?

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

Quels tests sont utilisés pour le diagnostic ?

Des tests de dépistage néonatal, des dosages enzymatiques et des analyses d'urine sont courants.

Les symptômes aident-ils au diagnostic ?

Oui, les symptômes cliniques orientent le diagnostic et peuvent indiquer le type d'erreur.

Quelle est l'importance de l'histoire familiale ?

L'histoire familiale aide à identifier les risques génétiques et à orienter les tests.

Peut-on utiliser l'imagerie pour le diagnostic ?

L'imagerie peut aider à évaluer les organes affectés, mais n'est pas spécifique.

Quels sont les symptômes courants ?

Les symptômes incluent fatigue, douleurs abdominales, troubles neurologiques et retard de croissance.

Les symptômes varient-ils selon le type d'erreur ?

Oui, chaque type d'erreur lipidique présente des symptômes spécifiques et variés.

Y a-t-il des signes cutanés associés ?

Certaines erreurs peuvent provoquer des dépôts lipidiques visibles sur la peau.

Les symptômes apparaissent-ils à la naissance ?

Certains symptômes peuvent apparaître dès la naissance, d'autres se développent plus tard.

Les troubles mentaux sont-ils possibles ?

Oui, des troubles cognitifs et comportementaux peuvent survenir dans certaines erreurs.

Peut-on prévenir ces erreurs ?

La prévention est limitée, mais le dépistage néonatal peut aider à identifier les cas précoces.

Le conseil génétique est-il utile ?

Oui, le conseil génétique aide les familles à comprendre les risques et les options de dépistage.

Les vaccinations sont-elles importantes ?

Les vaccinations ne préviennent pas les erreurs métaboliques, mais protègent contre d'autres maladies.

Les tests prénataux sont-ils recommandés ?

Des tests prénataux peuvent être proposés pour détecter certaines erreurs génétiques.

L'éducation des parents est-elle cruciale ?

Oui, informer les parents sur les signes et symptômes peut aider à une détection précoce.

Quels traitements sont disponibles ?

Les traitements incluent des régimes alimentaires spécifiques, des suppléments et des médicaments.

La diététique joue-t-elle un rôle ?

Oui, un régime adapté est crucial pour gérer les niveaux de lipides et prévenir les complications.

Des médicaments sont-ils utilisés ?

Des médicaments peuvent être prescrits pour réduire les niveaux de lipides ou traiter les symptômes.

La thérapie génique est-elle une option ?

La thérapie génique est en recherche pour certaines erreurs, mais n'est pas encore courante.

Les greffes d'organes sont-elles nécessaires ?

Dans certains cas graves, des greffes peuvent être envisagées pour traiter des dommages organiques.

Quelles complications peuvent survenir ?

Les complications incluent des maladies hépatiques, des troubles neurologiques et des problèmes cardiaques.

Les erreurs lipidique peuvent-elles être mortelles ?

Certaines erreurs peuvent entraîner des complications graves pouvant être fatales sans traitement.

Y a-t-il des risques de cancer ?

Certaines erreurs peuvent augmenter le risque de développer certains types de cancer.

Les troubles psychologiques sont-ils fréquents ?

Oui, des troubles psychologiques peuvent survenir en raison de l'impact des symptômes.

Les complications sont-elles réversibles ?

Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes sans traitement.

Quels sont les facteurs de risque génétiques ?

Les antécédents familiaux d'erreurs métaboliques augmentent le risque de transmission.

L'origine ethnique influence-t-elle le risque ?

Oui, certaines erreurs sont plus fréquentes dans des populations spécifiques en raison de la génétique.

L'alimentation joue-t-elle un rôle ?

Une alimentation déséquilibrée peut exacerber les symptômes chez les individus prédisposés.

Les infections peuvent-elles aggraver la condition ?

Certaines infections peuvent déclencher ou aggraver les symptômes des erreurs métaboliques.

Le sexe influence-t-il le risque ?

Certaines erreurs métaboliques peuvent avoir une prévalence différente selon le sexe.

Erreurs innées du métabolisme lipidique - Informations médicales vérifiées

Classification of Local Recurrence After Nipple-Sparing Mastectomy Based on Location: The Features of Nipple-Areolar Recurrence Differ from Those of Other Local Recurrences.

Mar 2023

DOI: 10.1245/s10434-022-12760-1 PMID: 36371582

Little information is available about the clinical and pathologic characteristics of local recurrence (LR) after nipple-sparing mastectomy according to the locations of LR.... This study classified 99 patients into the following two groups according to the location of LR after nipple-sparing mastectomy: nipple-areolar recurrence (NAR) group and other locations of LR (oLR) g... For about half of the patients (44.4 %) with NAR, the primary cancer was estrogen receptor (ER)-negative and human epidermal growth factor receptor 2 (HER2)-positive. Conversely, in most of the patien... This multi-institutional retrospective study demonstrated that the features of NAR, such as the characteristics of the primary and recurrent tumors and the prognostic factors after LR resection, were ...

Humans Female Breast Neoplasms Mastectomy Nipples +4 autres

Feasibility of local therapy for recurrent pancreatic cancer.

Sep 2022

DOI: 10.1016/j.pan.2022.05.004 PMID: 35641368

Despite advances in perioperative management, recurrence after curative pancreatectomy is a critical issue in the treatment of pancreatic ductal adenocarcinoma (PDAC). The significance of local therap... We reviewed the medical records of patients with PDAC who underwent curative resection at our institution between January 2009 and December 2019. We examined the patterns of relapse and assessed the c... A total of 246 patients with PDAC who underwent R0 or R1 resection were included in this study. The 3-year overall survival (OS) rate was 39.8%, and the 1-year recurrence-free survival rate was 51.2% ... Our results suggest that a multimodal approach may improve the clinical outcomes of patients with recurrent PDAC....

Adenocarcinoma Carcinoma, Pancreatic Ductal Feasibility Studies Humans Neoplasm Recurrence, Local +6 autres

Ultrasound Assessment of Skin Tumors Local Recurrence.

Oct 2023

DOI: 10.1002/jum.16255 PMID: 37195073

Skin cancer may recur at or around the surgical site despite wide excisions. Prompt clinical and sonographic detection of local recurrence is important since subjects with relapsing melanomas or nonme...

Humans Skin Neoplasms Skin Melanoma Ultrasonography +1 autres

Pathological determinants of outcome following resection of locally advanced or locally recurrent rectal cancer.

Nov 2023

DOI: 10.1016/j.ejso.2023.06.023 PMID: 37442715

Pathological factors that influence and predict survival following pelvic exenteration (PE) for locally advanced (LARC) or locally recurrent rectal cancer (LRRC), especially LRRC, remain poorly unders... A retrospective cohort study was performed for all patients undergoing a curative PE for LARC or LRRC between 2008 and 2021 at a tertiary referral UK specialist colorectal hospital. Cox regression ana... 388 patients were included in the analysis with 256 resections for LARC and 132 for LRRC. 62.4% of patients were male with a median age of 59 years (IQR 49-67). 247 (64%) partial pelvic exenterations ... A positive resection margin and poorly differentiated tumours are significant negative prognostic markers for survival and recurrence in LARC. The results of this study support the need to look for al...

Humans Male Middle Aged Aged Female +7 autres

Intraparenchymal metastases as a cause for local recurrence of pancreatic cancer.

Feb 2023

DOI: 10.1111/his.14839 PMID: 36371607

Using CODA, a technique for three-dimensional reconstruction of large tissues, Kiemen et al. report observation of a microscopic focus of pancreatic cancer found in the vasculature of grossly normal h...

Humans Pancreatic Neoplasms Pancreas Neoplasm Recurrence, Local Pancreatic Neoplasms

Does the Addition of Mutations of CTNNB1 S45F to Clinical Factors Allow Prediction of Local Recurrence in Patients With a Desmoid Tumor? A Local Recurrence Risk Model.

01 10 2023

DOI: 10.1097/CORR.0000000000002627 PMID: 37104792

The initial approach to the treatment of desmoid tumors has changed from surgical resection to watchful waiting. However, surgery is still sometimes considered for some patients, and it is likely that... We sought to explore whether a combined molecular and clinical prognostic model for relapse in patients with desmoid tumors treated with surgery would allow us to identify patients who might do well w... This was a retrospective, single-center study of 107 patients with desmoid tumors who were surgically treated between January 1980 and December 2015, with a median follow-up of 106 months (range 7 to ... The multivariable analysis showed that S45F mutations (hazard ratio 5.25 [95% confidence interval 2.27 to 12.15]; p < 0.001) and tumor in the extremities (HR 3.15 [95% CI 1.35 to 7.33]; p = 0.008) wer... CTNNB1 S45F mutations combined with other clinical variables are a potential prognostic biomarker associated with the risk of relapse in patients with desmoid tumors. The developed nomogram is simple ... Level III, therapeutic study....

Humans Fibromatosis, Aggressive Retrospective Studies Neoplasm Recurrence, Local Mutation +2 autres

Risk Factors of Second Local Recurrence in Surgically Treated Recurrent Brain Metastases: An Exploratory Analysis.

Nov 2022

DOI: 10.1016/j.wneu.2022.08.066 PMID: 36028114

A first local recurrence is common after resection or radiotherapy for brain metastasis (BM). However, patients with BMs can develop multiple local recurrences over time. Published data on second loca... Patients were identified from a database at Brigham and Women's Hospital in Boston. Hazard ratios and 95% confidence intervals for predictors of a second local recurrence were computed using a Cox pro... Of 170 identified surgically treated first locally recurrent lesions, 74 (43.5%) progressed to second locally recurrent lesions at a median of 7 months after craniotomy. Subtotal resection of the firs... A second local recurrence occurred after 43.5% of craniotomies for first recurrent lesions. Subtotal resection and infratentorial location were the strongest risk factors for worse second local recurr...

Humans Female Neoplasm Recurrence, Local Prognosis Risk Factors +3 autres

Applying a neoscore in locally advanced rectal cancer is beneficial in predicting local recurrences after surgery.

2023

DOI: 10.1371/journal.pone.0285709 PMID: 37172066

The current study was undertaken to provide more detailed prognostic models for early prediction of local recurrences and local recurrence free survival (RFS) using different radiologic and pathologic... One hundred patients with locally advanced rectal carcinomas decided to receive neoadjuvant CRT were retrospectively recruited, Hazard ratios (HR) were determined in the two cox regression models and ... HR of 1st group of models: T+N, T+N+G, T+N+G+S, T+N+G+S+PNI, and T+N+G+S+PNI+R were summated and categorized into scores, these scores were significantly correlated with the risk of recurrence (Somer'... We propose that the addition of biologic factors to staging of rectal cancer provide precise stratification and association with local recurrences in patients received preoperative CRT....

Humans Retrospective Studies Prognosis Rectum Rectal Neoplasms +6 autres

Surgery of resectable local recurrence following colorectal cancer: Compartmental surgery improves local control.

Nov 2022

DOI: 10.1002/jso.26990 PMID: 35779039

This study aims to identify prognostic factors and define the best extent of surgery for optimizing treatment of local recurrence (LR) following colorectal cancer (CRC).... An institutional database of consecutive patients who underwent radical resection (R0/R1) of LR following CRC was analyzed prospectively from 2010 to 2021 at one tertiary cancer center.... In this study, 75 patients were included with LR following CRC and analyzed. Patients were categorized as compartmental resections (CompRe) (n = 47) if all adjacent organs were systematically removed,... Complete compartmental surgery is safe and improves local control. Optimal LR resection needs to remove all contiguous organs, with or without tumor involvement....

Colorectal Neoplasms Digestive System Surgical Procedures Humans Neoplasm Recurrence, Local Prognosis +3 autres

Recurrent RET fusions in fibrosarcoma-like neoplasms in adult viscera: expanding the clinicopathological and genetic spectrum.

Mar 2023

DOI: 10.1111/his.14847 PMID: 36443894

RET-fused mesenchymal neoplasms mostly affect the soft tissue of paediatric patients. Given their responsiveness to selective RET inhibitors, it remains critical to identify those extraordinary cases ... Clinicopathological features were assessed and partner agnostic targeted next-generation sequencing on clinically validated platforms were performed. The patients were 18, 53, and 55 years old and inc... Our study expands the clinicopathological and genetic spectrum of mesenchymal neoplasms associated with RET fusions....

Female Humans Male Adult Child +7 autres

Erreurs innées du métabolisme lipidique : 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

Syndrome de Barth

Hyperlipidémie familiale mixte

Hyperlipoprotéinémie de type I

Hyperlipoprotéinémie de type II

Hyperlipoprotéinémie de type III

Hyperlipoprotéinémie de type IV

Hyperlipoprotéinémie de type V

Hypolipoprotéinémies

Lipidoses

Xanthomatose cérébrotendineuse

Hypercholestérolémie familiale homozygote

Hypoalphalipoprotéinémies

Hypobêtalipoprotéinémies

Céroïdes-lipofuscinoses neuronales

Syndrome de Sjögren-Larsson

Déficit en lécithine-cholestérol-acyl-transférase

Maladie de Tangier

Abêtalipoprotéinémie

Auteurs principaux

Sources (10000 au total)