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"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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"@type": "Question",
"name": "Comment diagnostiquer une déficience en fibrilline ?",
"position": 1,
"acceptedAnswer": {
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"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": {
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"text": "Des symptômes comme des douleurs articulaires et des anomalies cardiovasculaires peuvent indiquer un problème."
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"@type": "Question",
"name": "Peut-on détecter des anomalies fibrillaires par imagerie ?",
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"acceptedAnswer": {
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"text": "Oui, l'imagerie peut révéler des anomalies dans les tissus conjonctifs."
}
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{
"@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."
}
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{
"@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."
}
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{
"@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."
}
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{
"@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."
}
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{
"@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."
}
}
]
}
]
}
The coronavirus disease 2019 (COVID-19) pandemic had profound effects on the management of pediatric patients with intestinal failure. Limitations in personal protective equipment and other necessary ...
Mac-2 binding protein glycosylation-modified isomer (M2BPGi) is a new marker for hepatic fibrosis progression. We examined the relationship between serum M2BPGi levels and liver histological findings ...
This study included IF patients without IFALD followed at our hospital. All patients underwent routine liver biopsies per protocol every 1-2 years. We examined M2BPGi levels and histological findings ...
Total 18 liver biopsies out of eight patients were included. The median age was 11.5 years. Mean M2BPGi was 0.44 cutoff index (COI) in patients with F0 fibrosis, 0.78 COI in patients with F1 fibrosis ...
Serum M2BPGi is a novel marker of liver fibrosis in patients with IF. It is useful for follow-up prior to IFALD. Serum M2BPGi levels can support the interpretation of liver status....
Pediatric intestinal pseudo-obstruction (PIPO) management is based on nutritional, medical, and surgical care while available evidence is scarce. The aim of this study was to outline the current diagn...
An online survey on institutional diagnostic and management strategies of PIPO was conducted among the ERNICA IF teams....
In total, 11 of 21 ERNICA IF centers from 8 countries participated. On average, 64% of teams had ≥6 and 36% had 1-5 PIPO patients under active follow-up. In total, 80 of 102 PIPO patients were parente...
Numbers of PIPO patients are low and management strategies are diverse among ERNICA IF teams. To improve PIPO patient care, regional reference centers with specialized multidisciplinary IF teams and c...
The International Intestinal Failure Registry (IIFR) is an international consortium to study intestinal failure (IF) outcomes in a large contemporary pediatric cohort. We aimed to identify predictors ...
We included IIFR pilot phase patients. IF was defined by a parenteral nutrition need for at least 60 days due to a primary gastrointestinal etiology. The primary outcome was time to enteral autonomy a...
We included 189 patients (82% with short bowel syndrome) representing 11 international centers. Cumulative incidence of early enteral autonomy was 51.6%, and death was 6.5%. In multivariable analysis,...
Minimizing bowel resection at initial surgery and establishing bowel continuity by ostomy reversal can effectively decrease the time to early enteral autonomy achievement in children with IF....
Infants with intestinal failure have an increased risk of intestinal failure-associated liver disease (IFALD). Composite intravenous lipid emulsion (ILE) may reduce the risk of cholestasis. The primar...
At our 2 tertiary neonatal/pediatric hospitals, we identified all patients (≤1 year old) who received ≥6 weeks parenteral nutrition (PN) from 2010 to 2018. Data included liver and growth parameters. I...
Fifty infants (35 composite ILE, 15 soybean oil ILE) were included. Those on composite ILE received PN for longer (10.1 vs 7.6 weeks; P = 0.001) and had higher baseline CB (29 vs 6.5 μmol/L; P = 0.001...
In our institutions, over 8 years, chronic intestinal failure was rare. Composite ILE was the predominant lipid choice for infants who needed longer courses of PN or had developed cholestasis. Despite...
To assess the neurodevelopment outcomes of children younger than 42 months of age with intestinal failure (IF) using prolonged parenteral nutrition (PN) followed by a Pediatric Multidisciplinary Intes...
Bayley III scale was administered in children aged 2 to 42 months with IF and receiving PN for more than 60 days. Composite scores in cognitive, motor, and language domains were analyzed. Developmenta...
Twenty-four children with median (IQR) age of 17.5 months (9-28.5) were studied, 58.3% were male. Developmental delay was found in 34%, 33% and 27% of the patients in cognitive, motor, and language do...
The study demonstrated impairments in the cognitive, motor and language domains in approximately one-third of young patients with IF on prolonged PN....
Longitudinal changes in bone health in children with intestinal failure (IF) are unclear. We aimed to better understand the trajectory of bone mineral status over time in children with IF and identify...
Clinical records of patients attending the Intestinal Rehabilitation Center of Cincinnati Children's Hospital Medical Center between 2012 and 2021 were reviewed. Children diagnosed with IF before age ...
Thirty-four children with IF met inclusion criteria. Children were shorter than average with a mean height z score of -1.5 ± 1.3. The mean bone density z score was -1.5 ± 1.3 with 25 of the cohort hav...
Children with IF were shorter than expected for age. Deficits in bone mineral status were less common when adjusting for short stature. Etiologies of IF, prematurity, and vitamin D deficiency were not...
Iron-deficiency anemia (IDA) is highly prevalent in children with intestinal failure (IF) and oral iron supplementation is often ineffective in this patient population. Even though various intravenous...
Maintaining adequate nutritional status can be a challenge for patients with small bowel neuroendocrine tumours (NETs). Surgical resection could result in short bowel syndrome (SBS), whilst without su...
A systematic review was performed regarding patients with small bowel NETs and IF to report on overall survival and HPN-related complications and create awareness for this treatment....
Five articles regarding patients with small bowel NETs or a subgroup of patients with NETs could be identified, mainly case series with major concerns regarding bias. The studies included 60 patients ...
This systematic review demonstrates the feasibility of the use of HPN in patients with NETs and IF in expert centres with a reasonable 1-year survival rate and low complication rate. Further research ...
After extensive small and colon resections, quality of life can be affected. We propose the antiperistaltic transverse coloplasty as a solution that allows for preservation of the transverse colon aft...
This technique was performed in a 41-year-old woman with Goblet cell adenocarcinoma of the appendix with peritoneal metastasis. The transverse colon is rotated anticlockwise over the axis of the middl...
After 1 year of follow-up, the patient led a normal life without parenteral nutrition with five bowel movements per day and a weight gain of 15%....
The use of an antiperistaltic transverse coloplasty may be worthwhile to perform in cases of extensive bowel resections during cytoreductive surgery leading to short-bowel syndrome to avoid a permanen...