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"headline": "Diagnostic sur Fibrillines",
"description": "Comment diagnostiquer une déficience en fibrilline ?\nQuels examens sont utilisés pour évaluer les fibrillines ?\nLes tests génétiques sont-ils fiables pour les fibrillines ?\nQuels symptômes indiquent un problème de fibrilline ?\nPeut-on détecter des anomalies fibrillaires par imagerie ?",
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"description": "Peut-on prévenir les maladies liées aux fibrillines ?\nY a-t-il des conseils de mode de vie pour les patients fibrillaires ?\nLes tests génétiques peuvent-ils aider à la prévention ?\nComment le suivi médical aide-t-il les patients ?\nLes activités physiques sont-elles sûres pour les patients ?",
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"headline": "Traitements sur Fibrillines",
"description": "Quels traitements existent pour les troubles des fibrillines ?\nLa chirurgie est-elle nécessaire pour les problèmes de fibrillines ?\nDes médicaments peuvent-ils aider les patients fibrillaires ?\nY a-t-il des thérapies spécifiques pour les fibrillines ?\nComment gérer les douleurs liées aux fibrillines ?",
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"description": "Quelles sont les complications possibles des troubles fibrillaires ?\nLes complications cardiovasculaires sont-elles fréquentes ?\nComment prévenir les complications liées aux fibrillines ?\nLes douleurs chroniques sont-elles une complication courante ?\nLes problèmes respiratoires peuvent-ils être liés aux fibrillines ?",
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"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Fibrillines",
"description": "Quels sont les facteurs de risque pour les troubles des fibrillines ?\nLes antécédents familiaux augmentent-ils le risque ?\nLes mutations génétiques sont-elles un facteur de risque ?\nLes conditions médicales préexistantes influencent-elles le risque ?\nL'âge est-il un facteur de risque pour les troubles fibrillaires ?",
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"@type": "Question",
"name": "Comment diagnostiquer une déficience en fibrilline ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un diagnostic se fait par des tests génétiques et des examens cliniques."
}
},
{
"@type": "Question",
"name": "Quels examens sont utilisés pour évaluer les fibrillines ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'échographie, l'IRM et les tests sanguins peuvent être utilisés."
}
},
{
"@type": "Question",
"name": "Les tests génétiques sont-ils fiables pour les fibrillines ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques sont très fiables pour identifier les mutations des fibrillines."
}
},
{
"@type": "Question",
"name": "Quels symptômes indiquent un problème de fibrilline ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes comme des douleurs articulaires et des anomalies cardiovasculaires peuvent indiquer un problème."
}
},
{
"@type": "Question",
"name": "Peut-on détecter des anomalies fibrillaires par imagerie ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'imagerie peut révéler des anomalies dans les tissus conjonctifs."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une maladie liée aux fibrillines ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des douleurs articulaires, des problèmes cardiaques et des anomalies oculaires."
}
},
{
"@type": "Question",
"name": "Les douleurs articulaires sont-elles liées aux fibrillines ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des douleurs articulaires peuvent être un signe de dysfonctionnement des fibrillines."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes cutanés associés aux fibrillines ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes cutanés comme des vergetures peuvent être observés en cas de déficience en fibrilline."
}
},
{
"@type": "Question",
"name": "Les problèmes oculaires sont-ils fréquents avec les fibrillines ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des problèmes comme le décollement de la rétine peuvent survenir."
}
},
{
"@type": "Question",
"name": "Comment les anomalies cardiovasculaires se manifestent-elles ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent se manifester par des dilatations aortiques ou des ruptures vasculaires."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les maladies liées aux fibrillines ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un suivi médical régulier peut aider à détecter les problèmes tôt."
}
},
{
"@type": "Question",
"name": "Y a-t-il des conseils de mode de vie pour les patients fibrillaires ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain, incluant une alimentation équilibrée et de l'exercice, est recommandé."
}
},
{
"@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 personnes à risque et permettre une surveillance précoce."
}
},
{
"@type": "Question",
"name": "Comment le suivi médical aide-t-il les patients ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le suivi médical permet de surveiller l'évolution de la maladie et d'ajuster les traitements."
}
},
{
"@type": "Question",
"name": "Les activités physiques sont-elles sûres pour les patients ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des activités physiques modérées sont généralement sûres, mais doivent être adaptées à chaque patient."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les troubles des fibrillines ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la surveillance, la chirurgie et des médicaments pour gérer les symptômes."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle nécessaire pour les problèmes de fibrillines ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La chirurgie peut être nécessaire pour corriger des anomalies cardiovasculaires graves."
}
},
{
"@type": "Question",
"name": "Des médicaments peuvent-ils aider les patients fibrillaires ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des médicaments peuvent aider à gérer les symptômes et à prévenir les complications."
}
},
{
"@type": "Question",
"name": "Y a-t-il des thérapies spécifiques pour les fibrillines ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de thérapie spécifique, mais des soins symptomatiques sont offerts."
}
},
{
"@type": "Question",
"name": "Comment gérer les douleurs liées aux fibrillines ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion de la douleur peut inclure des analgésiques et des thérapies physiques."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles des troubles fibrillaires ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des ruptures vasculaires, des problèmes cardiaques et des douleurs chroniques."
}
},
{
"@type": "Question",
"name": "Les complications cardiovasculaires sont-elles fréquentes ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications cardiovasculaires sont courantes et peuvent être graves."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications liées aux fibrillines ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier et un traitement approprié peuvent aider à prévenir les complications."
}
},
{
"@type": "Question",
"name": "Les douleurs chroniques sont-elles une complication courante ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les douleurs chroniques peuvent survenir et nécessitent une gestion adéquate."
}
},
{
"@type": "Question",
"name": "Les problèmes respiratoires peuvent-ils être liés aux fibrillines ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des problèmes respiratoires peuvent survenir en raison de complications pulmonaires."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les troubles des fibrillines ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des conditions médicales."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux augmentent-ils le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un historique familial de troubles fibrillaires augmente le risque de développer la maladie."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles un facteur de risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines mutations génétiques sont directement liées aux troubles des fibrillines."
}
},
{
"@type": "Question",
"name": "Les conditions médicales préexistantes influencent-elles le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conditions comme le syndrome de Marfan augmentent le risque de complications."
}
},
{
"@type": "Question",
"name": "L'âge est-il un facteur de risque pour les troubles fibrillaires ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'âge peut influencer la gravité des symptômes, mais n'est pas un facteur de risque direct."
}
}
]
}
]
}
This study investigated the prevalence, characteristics, and management of patients with chronic intestinal failure (CIF) in the United States in 2012-2020, based on parenteral support (PS) prescripti...
Patients with CIF were identified from the Integrated DataVerse® claims database if they had at least two PS prescriptions within 6 months and a relevant diagnosis. Analysis included prevalence and ch...
Up to 24,048 patients with CIF were identified, equivalent to 75 patients per million. CIF affected people of all ages, being more prevalent in women than in men. Many providers signed PS orders for s...
Healthcare disparities for patients with CIF have likely been obscured by the lack of CIF-specific diagnostic and procedure codes, obliging providers to code for their patients under other codes. Effe...
The potential effects of resistance training on sarcopenia in patients with intestinal failure (IF) are not fully elucidated. This study aimed to explore the efficacy of a resistance training program ...
A single-center randomized controlled trial was conducted in a Chinese tertiary teaching hospital. Patients with IF exhibiting sarcopenia were randomly assigned to the exercise group or control group....
A total of 60 participants (control group 30, age 51.2 ± 12.9 years, women 43.3%; exercise group 30, age 53.9 ± 14.5 years, women 56.7%) completed the 4-week intervention trial. For the primary outcom...
In this randomized clinical trial, we observed that 4 weeks of resistance training was associated with improved ASMI, physical performance, biochemical parameters (including IGF-1, prealbumin, and hem...
www.chictr.org.cn, identifier: ChiCTR2100051727....
Periodical replacement of venous Hickman catheters is required for the nutritional care of patients with intestinal failure. The conventional de novo operation (DN-OP) involves inserting the catheter ...
We conducted a retrospective study to compare the efficacy of Hickman catheters and the survival of venous vessels using two different operative strategies....
Overall, 181 catheters were inserted, 109 using DN-OP and 72 using SR-OP. The mean catheter duration was 11.9 ± 8.8 months in the DN-OP group and 10.5 ± 5.6 months in the SR-OP group; the infection ra...
Application of SR-OP in Hickman catheter replacement significantly extended the working duration of venous access by re-using the same venous route without compromising catheter efficacy in patients w...
Data on the relationship between body composition (BC) and physical activity (PA) in children with intestinal failure (IF) are lacking. The objectives were to collect data on PA and BC in children wit...
Cross-sectional study in children 5-18 years with IF including those receiving parenteral nutrition (PN) and those fully enterally fed. PA levels were measured using accelerometry. BC was measured by ...
Fifty-eight children with IF (38 males), mean (SD) age of 10.0 (3.5) years, 20 dependent on PN were included. Patients with IF had significantly fewer steps per day ( P ≤ 0.001) compared with literatu...
Children with IF, those receiving PN and those fully enterally fed, are at risk of decreased PA and altered BC. PA should be part of ongoing rehabilitation and management to optimize outcomes....
There is a subset of intestinal failure patients with associated chronic intestinal inflammation resembling inflammatory bowel disease. This study aimed to evaluate factors associated with chronic int...
This was a single-center retrospective case-control study of children <18 years old with intestinal failure. Cases were defined by abnormal amounts of chronic intestinal inflammation on biopsies. Chil...
Thirty cases were identified and matched to 60 controls. On univariate analysis, longer parenteral nutrition (PN) duration (1677 vs 834 days, P = 0.03), current PN use (33.3% vs 20.0%, P = 0.037), and...
PN dependence and intestinal dysbiosis are associated with chronic intestinal inflammation in children with intestinal failure. Severity of inflammation is associated with escalation of therapy. Furth...
Intestinal dysmotility (ID) problems are common in patients with pediatric-onset intestinal failure (IF) and short bowel syndrome (SBS), leading to significant morbidity and delays in the advancement ...
Retrospective chart review of all children with IF and/or SBS who required parenteral nutrition (PN) > 6 weeks or small-intestinal resection ≥ 50%. Patients were divided into SBS and non-SBS groups. S...
A total of 42 children with IF were treated in our institution during 2003-2022. In non-SBS group (n = 10), ID was the most common cause of IF (80%). SBS-group included 32 children; 18 children (56%) ...
ID is the most common complication of SBS and is the most common cause of IF in non-SBS patients. ID has a high morbidity rate and various clinical manifestations. Successful treatment of these infant...
With increasing number of children with intestinal failure (IF) on long-term parenteral nutrition (PN), this study assesses the impact of IF on muscle strength, speed, and agility and body composition...
Cross-sectional study in children 5-18 years with IF on PN. Assessments included Bruininks-Oseretsky Test of Motor Proficiency-2 strength and agility subtest (BOT-2), and grip strength. BC data from d...
Twenty-one children with IF (14 males), median age 8.33 (IQR: 6.96-11.04) years and 33 controls (20 males), 8.25 (6.67-10.79) years were included. Strength and agility ( P < 0.001) and grip strengt...
Children with IF are at risk of decreased muscle strength and agility, along with altered BC. Ongoing medical, nutritional, and rehabilitation intervention is vital to optimize outcomes....
Patients with intestinal failure (IF) are often dependent on PN for provision of calories and nutrients for survival. Similar to chronic intestinal failure (CIF) patients, those who have AIF are also ...
The primary objective of this study was to determine the incidence of IFALD in AIF patients on short-term PN. Secondary objectives were to analyse patient and PN risk factors of IFALD, and clinical ou...
This was a retrospective cross-sectional cohort study of hospitalised adult patients with AIF prescribed with short-term PN. All adult patients aged 21 years and above who received PN for at least 5 c...
A total of 171 patients were enrolled in this study, with 77 (45%) having deranged LFTs at the end of PN therapy and categorised under the IFLAD group. The patient cohort was predominantly male (92 [5...
In this study, IFALD is a common phenomenon in AIF and the incidence was found to be an estimated 50% amongst patients on short-term PN with similar clinical outcomes between the two groups....
This post-hoc analysis evaluated the effect of teduglutide treatment on diarrhea in patients with short bowel syndrome-associated intestinal failure (SBS-IF)....
Data from 2 open-label, multicenter, phase 3 pediatric SBS-IF clinical trials of teduglutide (NCT01952080 and NCT02682381) were pooled where possible. The primary objective was to evaluate the change ...
Overall, 101 patients were analyzed. Among the total teduglutide group (n = 87), there were significant changes from baseline to weeks 12 and 24 in mean (standard error) Bristol Stool Form Scale (BSFS...
In this post-hoc analysis, short-term treatment with teduglutide was associated with improved stool consistency, as well as trends towards reductions in PN/IV requirements and advancements in enteral ...
We present the case of a 35-y-old woman with short bowel syndrome secondary to extensive intestinal resection with associated chronic kidney disease who was undergoing hemodialysis. This patient requi...