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

A comparison of early fixation of distal radius fractures versus late corrective osteotomy of distal radius malunion.

12 2022

DOI: 10.1111/ans.18122 PMID: 36259218

Fractures of the distal radius are common. Closed reduction and moulded casting is often the first line treatment. Malunion after casting is not uncommon and can lead to discussion on acute surgical f... We performed a single centre, age matched, case series comparison study, comparing outcomes of patients who had undergone early fixation (ORIF) versus those who had undergone late corrective osteotomy... Twenty-six patients were available for review, 13 in each group. Fracture patterns were similar. Reviewing CO versus ORIF; patients achieved a mean DASH; 22 versus 18 (P = 0.355), PRWE; 35 versus 26 (... Our findings suggest that patient measured outcome of corrective osteotomy is not inferior to early internal fixation.... III (Case Series Comparison)....

Humans Radius Fractures, Malunited Radius Fractures Wrist Fractures +6 autres

Evaluation of overgrowth in pediatric radius fractures.

Apr 2023

DOI: 10.1016/j.injury.2023.02.001 PMID: 36828736

Forearm fractures are the most frequent long bone fractures in children. There have been many reports of differences in leg length due to overgrowth in lower extremity fractures. However, reports of s... Retrospectively, between 2013 and 2022, 14 patients under 16 years of age (mean age 9.43 years; 10 boys, four girls) with unilateral radius shaft or metaphyseal fracture without physeal injury, and a ... The mean follow-up period was 27.9 months (range, 13-53 months). Eight patients underwent cast treatment, and six patients underwent surgical treatment. The difference in ulnar variances between the u... First, this study implies that the degree of angulation of the fracture may affect the overgrowth of the radius in case of radius shaft or metaphyseal fracture, without physeal injury. Second, it impl... Level IV, Retrospective study....

Male Female Humans Child Retrospective Studies +4 autres

Quantitative Analysis of the Volar Ulnar Corner of the Distal Radius: A Reference for Intraoperative Distal Radius Fracture Reduction.

11 2023

DOI: 10.1016/j.jhsa.2022.03.017 PMID: 35641390

The reduction of distal radius fractures using volar locking plate fixation can be performed by securing the plate to the distal fragments and then levering the plate to the radial shaft. Oblique plac... Three hundred seventy-five adult patients with a conventional wrist radiograph in their medical chart were identified. From this cohort, 50 radiographs of each Tolat DRUJ type were quantitatively anal... One hundred fifty-one patients (40%) had a wrist with type 1 DRUJ, 147 (39%) had a wrist with type 2 DRUJ, and 77 (21%) had a wrist with type 3 DRUJ. The measurements of the distal ulnar corner, volar... The prevalence of Tolat type 1, 2, and 3 DRUJ was 40%, 39%, and 21%, respectively. The angles of the volar ulnar corner varied with each DRUJ type.... Because the lunate facet inclination was relatively consistent among all the Tolat DRUJ types, this angle may be useful as a reference for "distal-first" distal radius volar plating....

Adult Humans Radius Wrist Fractures Radius Fractures +5 autres

Clinical advantages of gradually reducing radius versus multi-radius total knee arthroplasty: a noninferiority randomized trial.

26 Jan 2023

DOI: 10.1186/s12891-023-06177-4 PMID: 36703203

The rationale for gradually reducing radius (GR) femoral component aims to prevent flexion instability by gradually change the center of femoral rotation, unlike a discrete change by the multi-radius ... This patient-blinded, parallel, non-inferiority trial conducted between January 2018-December 2020. Patients with knee osteoarthritis consented for cruciate retaining TKA were randomly allocated to a ... Sixty patients were enrolled and randomized; GR (n = 30) and MR (n = 30) group. The changes of KOOS at 6 and 12 months from baseline showed clinical meaningful for both GR and MR group. At 6 and 12 mo... GR was noninferiority to MR for the functional outcomes and performances after TKA. The GR femoral component gave more knee motions than did the MR prostheses.... Level I, therapeutic study....

Humans Arthroplasty, Replacement, Knee Knee Prosthesis Radius Postural Balance +4 autres

Distal Radius Nonunions: A Rare Entity?

Feb 2024

DOI: 10.1016/j.hcl.2023.08.002 PMID: 37979990

Although distal radius fractures are common injuries, nonunion is extremely rare. Nonunion has been associated with increased metaphyseal comminution, concomitant distal ulna fracture, inadequate immo...

Humans Radius Radius Fractures Radiography Ulna Fractures +3 autres

[Our preferred Approaches to the distal Radius].

Jun 2023

DOI: 10.1055/a-2076-7746 PMID: 37307811

This article describes our preferred approaches to the distal radius treating acute fractures and malunion by plating....

Humans Radius Fracture Fixation, Internal Fractures, Bone

Comparison of Single-Radius with Multiple-Radius Femur in Total Knee Arthroplasty: A Meta-Analysis of Prospective Randomized Controlled Trials.

Sep 2022

DOI: 10.1111/os.13391 PMID: 35924690

Whether there was clinical superiority for the single-radius prosthesis over the multi-radius prothesis in total knee arthroplasty (TKA) still remains to be clarified. We updated a meta-analysis inclu... We searched the databases of PubMed, Web of Science, EMBASE, Cochrane Library, MEDLINE for eligible RCTs. Two reviewers evaluated the study quality according to the Risk of Bias tool of the Cochrane L... A total of 13 RCTs, along with 1720 patients and 1726 knees, were finally included in our present meta-analysis. We found that patients in SR-TKA group performed better in the sit-to-stand test (OR = ... In conclusion, our present meta-analysis indicated that SR implants were noninferior to MR implants in TKA, and SR implants could be an alternative choice over MR implants, since patients after SR-TKA...

Arthroplasty, Replacement, Knee Femur Humans Knee Joint Knee Prosthesis +8 autres

[Carpal Malalignment in Malunited Fractures of the Distal Radius].

Jun 2023

DOI: 10.1055/a-2074-3095 PMID: 37156512

To evaluate and classify carpal alignment in malunited fractures of the distal radius.... On standardized lateral radiographs of the involved wrist of 72 patients with a symptomatic extra-articular malunion of the distal radius, 43 with a dorsal and 29 with a palmar angulation, radius tilt... With respect to the RL-angle, carpal malalignment was categorized as follows: type P with a RL-angle less than -12°, type K with a RL-angle between -12 and 10°, type A with a RL-angle more than 10°, b... In this study four different types of carpal alignment in malunited extra-articular fractures of the distal radius were identified. Based on this data we suspect that type D carpal alignment in dorsal...

Humans Radius Fractures, Malunited Radius Fractures Carpal Bones +2 autres

Treatment outcomes of applying external fixator on distal radius fractures: a randomized clinical trial to compare between two directions of force exertion in parallel to radius shaft and perpendicular to the distal radius articular surface.

12 Apr 2023

DOI: 10.1186/s12891-023-06358-1 PMID: 37046238

External fixation has been one of the conventional managements of unstable distal radius fracture. The main aim of this paper is to compare two methods of applying distractive force along the radius s... Sixty patients with unstable distal radius fracture were included in present clinical trial and randomized in two groups, using block randomization method. In group A (first arm), distraction force wa... Radiological and clinical parameters were evaluated in both groups of patients pre-operatively, immediately after surgery, and 6 weeks post-operatively. We also followed up patients clinically at 12 w... The method used in group B resulted in better improvement of palmar tilt both immediately (P = 0.007) and at 6 weeks follow up (P = 0.013) post-operatively in comparison with patients in group A. Radi... Applying distractive force perpendicular to the distal radius articular surface seems to improve some radiological outcomes, probably due to better reduction maintenance, when compared with the techni... Level I (clinical trial study).... This study is registered at Iranian Registry of Clinical Trials (IRCT) with approval code of IRCT20200313046759N1....

Humans Radius Radius Fractures Wrist Fractures Iran +7 autres

Giant Cell Tumor of the Distal Radius: A Review.

Jan 2023

DOI: 10.1016/j.ocl.2022.08.002 PMID: 36402513

Giant cell tumor of the distal radius presents a significant challenge in management due to high risk of recurrence and potential loss of function. Shared decision-making guides management, particular...

Humans Radius Giant Cell Tumor of Bone Bone Neoplasms Treatment Outcome +1 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 (1011 au total)