questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Chromosomes
Chromosomes de mammifère
Chromosomes humains
Chromosomes humains : Questions médicales fréquentes
Termes MeSH sélectionnés :
Neoplasm Recurrence, Local
Diagnostic
5
Caryotype
Anomalies chromosomiques
Tests génétiques
Séquençage
Malformations congénitales
Retard de développement
Dépistage
Grossesse à risque
Échographie
Anomalies physiques
Symptômes
5
Syndromes chromosomiques
Retards mentaux
Troubles neurologiques
Anomalies physiques
Syndrome de Down
Tonus musculaire
Troubles du comportement
Difficultés d'apprentissage
Prévention
5
Conseils génétiques
Anomalies chromosomiques
Santé maternelle
Grossesse
Dépistage prénatal
Anomalies chromosomiques
Alimentation
Acide folique
Antécédents familiaux
Risque
Traitements
5
Thérapie génique
Recherche
Soins médicaux
Thérapies physiques
Interventions précoces
Éducation
Complications
5
Complications
Retards de développement
Fertilité
Anomalies chromosomiques
Maladies associées
Risque accru
Traitements médicaux
Interventions
Suivi médical
Complications à long terme
Facteurs de risque
5
Facteurs de risque
Âge maternel
Expositions environnementales
Radiations
Maladies génétiques
Antécédents familiaux
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"name": "Article complet : Chromosomes humains - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Chromosomes humains",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
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"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Chromosomes humains",
"description": "Comment diagnostiquer une anomalie chromosomique ?\nQuels tests génétiques sont disponibles ?\nQuels signes indiquent un problème chromosomique ?\nQuand faire un test de dépistage chromosomique ?\nQuel rôle joue l'échographie dans le diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Neoplasm+Recurrence,+Local#section-diagnostic"
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"name": "Symptômes",
"headline": "Symptômes sur Chromosomes humains",
"description": "Quels sont les symptômes des syndromes chromosomiques ?\nComment se manifestent les troubles liés aux chromosomes ?\nLes anomalies chromosomiques causent-elles des douleurs ?\nY a-t-il des symptômes spécifiques au syndrome de Down ?\nLes troubles chromosomiques affectent-ils le comportement ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Neoplasm+Recurrence,+Local#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Chromosomes humains",
"description": "Peut-on prévenir les anomalies chromosomiques ?\nQuel rôle joue la santé maternelle ?\nLes tests de dépistage prénatal sont-ils efficaces ?\nL'alimentation influence-t-elle les anomalies chromosomiques ?\nLes antécédents familiaux augmentent-ils les risques ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Neoplasm+Recurrence,+Local#section-prévention"
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"name": "Traitements",
"headline": "Traitements sur Chromosomes humains",
"description": "Quels traitements existent pour les anomalies chromosomiques ?\nLa thérapie génique est-elle une option ?\nComment gérer les symptômes des syndromes chromosomiques ?\nLes médicaments peuvent-ils aider ?\nY a-t-il des interventions précoces recommandées ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Neoplasm+Recurrence,+Local#section-traitements"
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"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Chromosomes humains",
"description": "Quelles complications peuvent survenir avec des anomalies chromosomiques ?\nLes anomalies chromosomiques affectent-elles la fertilité ?\nY a-t-il des risques de maladies associées ?\nLes complications peuvent-elles être traitées ?\nLes personnes atteintes ont-elles besoin de soins continus ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Neoplasm+Recurrence,+Local#section-complications"
},
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"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Chromosomes humains",
"description": "Quels sont les facteurs de risque pour les anomalies chromosomiques ?\nL'âge des parents influence-t-il les risques ?\nLes expositions environnementales sont-elles un risque ?\nLes maladies génétiques augmentent-elles les risques ?\nLe mode de vie peut-il influencer les risques ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Neoplasm+Recurrence,+Local#section-facteurs de risque"
}
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{
"@type": "Question",
"name": "Comment diagnostiquer une anomalie chromosomique ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un caryotype est réalisé pour examiner le nombre et la structure des chromosomes."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont disponibles ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent l'analyse de l'ADN, le caryotype et le séquençage génomique."
}
},
{
"@type": "Question",
"name": "Quels signes indiquent un problème chromosomique ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des malformations congénitales, des retards de développement ou des troubles de la fertilité."
}
},
{
"@type": "Question",
"name": "Quand faire un test de dépistage chromosomique ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il est recommandé lors de grossesses à risque ou d'antécédents familiaux d'anomalies."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'échographie dans le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'échographie peut détecter des anomalies physiques pouvant indiquer des problèmes chromosomiques."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes des syndromes chromosomiques ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient, incluant des retards mentaux, des malformations et des troubles comportementaux."
}
},
{
"@type": "Question",
"name": "Comment se manifestent les troubles liés aux chromosomes ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent se manifester par des anomalies physiques, des problèmes de croissance ou des troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Les anomalies chromosomiques causent-elles des douleurs ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles ne causent pas directement de douleurs, mais peuvent entraîner des complications douloureuses."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques au syndrome de Down ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, incluant un visage plat, des yeux en amande et un tonus musculaire faible."
}
},
{
"@type": "Question",
"name": "Les troubles chromosomiques affectent-ils le comportement ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains peuvent entraîner des troubles du comportement ou des difficultés d'apprentissage."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les anomalies chromosomiques ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines anomalies ne peuvent pas être prévenues, mais des conseils génétiques peuvent aider."
}
},
{
"@type": "Question",
"name": "Quel rôle joue la santé maternelle ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une bonne santé maternelle avant et pendant la grossesse peut réduire certains risques chromosomiques."
}
},
{
"@type": "Question",
"name": "Les tests de dépistage prénatal sont-ils efficaces ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent détecter certaines anomalies chromosomiques avant la naissance."
}
},
{
"@type": "Question",
"name": "L'alimentation influence-t-elle les anomalies chromosomiques ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et des suppléments d'acide folique peuvent réduire certains risques."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux augmentent-ils les risques ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'anomalies chromosomiques peuvent augmenter le risque de récurrence."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les anomalies chromosomiques ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements varient selon les symptômes et peuvent inclure thérapies, chirurgie ou médicaments."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche pour certaines anomalies, mais n'est pas encore largement disponible."
}
},
{
"@type": "Question",
"name": "Comment gérer les symptômes des syndromes chromosomiques ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion inclut des soins médicaux, des thérapies physiques et des soutiens éducatifs."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent traiter des symptômes spécifiques comme l'anxiété ou l'hyperactivité."
}
},
{
"@type": "Question",
"name": "Y a-t-il des interventions précoces recommandées ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des interventions précoces en éducation et en thérapie sont cruciales pour le développement."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des anomalies chromosomiques ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des problèmes de santé chroniques, des retards de développement et des troubles mentaux."
}
},
{
"@type": "Question",
"name": "Les anomalies chromosomiques affectent-elles la fertilité ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines anomalies peuvent entraîner des problèmes de fertilité chez les hommes et les femmes."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de maladies associées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes avec des anomalies chromosomiques peuvent avoir un risque accru de certaines maladies."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être traitées ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées avec des traitements médicaux ou des interventions."
}
},
{
"@type": "Question",
"name": "Les personnes atteintes ont-elles besoin de soins continus ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier est souvent nécessaire pour gérer les complications à long terme."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les anomalies chromosomiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et certaines expositions environnementales."
}
},
{
"@type": "Question",
"name": "L'âge des parents influence-t-il les risques ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'âge avancé des parents, surtout de la mère, augmente le risque d'anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les expositions environnementales sont-elles un risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines expositions, comme les radiations ou les produits chimiques, peuvent augmenter les risques."
}
},
{
"@type": "Question",
"name": "Les maladies génétiques augmentent-elles les risques ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents de maladies génétiques dans la famille peuvent accroître le risque d'anomalies."
}
},
{
"@type": "Question",
"name": "Le mode de vie peut-il influencer les risques ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des habitudes comme le tabagisme ou l'alcool peuvent augmenter le risque d'anomalies chromosomiques."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
└─
Chromosomes humains 1-3
Chromosomes, Human, 1-3
D002900 -
G05.360.162.520.300.235
└─
Chromosomes humains 4-5
Chromosomes, Human, 4-5
D002905 -
G05.360.162.520.300.280
└─
Chromosomes humains 6-12 et X
Chromosomes, Human, 6-12 and X
D002906 -
G05.360.162.520.300.325
└─
Chromosomes humains 13-15
Chromosomes, Human, 13-15
D002901 -
G05.360.162.520.300.370
└─
Chromosomes humains 16-18
Chromosomes, Human, 16-18
D002902 -
G05.360.162.520.300.415
└─
Chromosomes humains 19-20
Chromosomes, Human, 19-20
D002903 -
G05.360.162.520.300.460
└─
Chromosomes humains 21-22 et Y
Chromosomes, Human, 21-22 and Y
D002904 -
G05.360.162.520.300.505
└─└─
Chromosomes humains de la paire 1
Chromosomes, Human, Pair 1
D002878 -
G05.360.162.520.300.235.240
└─└─
Chromosomes humains de la paire 2
Chromosomes, Human, Pair 2
D002889 -
G05.360.162.520.300.235.245
└─└─
Chromosomes humains de la paire 3
Chromosomes, Human, Pair 3
D002893 -
G05.360.162.520.300.235.250
└─└─
Chromosomes humains de la paire 4
Chromosomes, Human, Pair 4
D002894 -
G05.360.162.520.300.280.285
└─└─
Chromosomes humains de la paire 5
Chromosomes, Human, Pair 5
D002895 -
G05.360.162.520.300.280.290
└─└─
Chromosomes humains de la paire 6
Chromosomes, Human, Pair 6
D002896 -
G05.360.162.520.300.325.330
└─└─
Chromosomes humains de la paire 7
Chromosomes, Human, Pair 7
D002897 -
G05.360.162.520.300.325.335
└─└─
Chromosomes humains de la paire 8
Chromosomes, Human, Pair 8
D002898 -
G05.360.162.520.300.325.340
└─└─
Chromosomes humains de la paire 9
Chromosomes, Human, Pair 9
D002899 -
G05.360.162.520.300.325.345
└─└─
Chromosomes humains de la paire 10
Chromosomes, Human, Pair 10
D002879 -
G05.360.162.520.300.325.350
└─└─
Chromosomes humains de la paire 11
Chromosomes, Human, Pair 11
D002880 -
G05.360.162.520.300.325.355
└─└─
Chromosomes humains de la paire 12
Chromosomes, Human, Pair 12
D002881 -
G05.360.162.520.300.325.360
└─└─
Chromosomes humains de la paire 13
Chromosomes, Human, Pair 13
D002882 -
G05.360.162.520.300.370.375
└─└─
Chromosomes humains de la paire 14
Chromosomes, Human, Pair 14
D002883 -
G05.360.162.520.300.370.380
└─└─
Chromosomes humains de la paire 15
Chromosomes, Human, Pair 15
D002884 -
G05.360.162.520.300.370.385
└─└─
Chromosomes humains de la paire 16
Chromosomes, Human, Pair 16
D002885 -
G05.360.162.520.300.415.420
└─└─
Chromosomes humains de la paire 17
Chromosomes, Human, Pair 17
D002886 -
G05.360.162.520.300.415.425
└─└─
Chromosomes humains de la paire 18
Chromosomes, Human, Pair 18
D002887 -
G05.360.162.520.300.415.430
└─└─
Chromosomes humains de la paire 19
Chromosomes, Human, Pair 19
D002888 -
G05.360.162.520.300.460.465
└─└─
Chromosomes humains de la paire 20
Chromosomes, Human, Pair 20
D002890 -
G05.360.162.520.300.460.470
└─└─
Chromosomes humains de la paire 21
Chromosomes, Human, Pair 21
D002891 -
G05.360.162.520.300.505.510
└─└─
Chromosomes humains de la paire 22
Chromosomes, Human, Pair 22
D002892 -
G05.360.162.520.300.505.515
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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 ...
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....
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...
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...
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...
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....
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...
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....
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....
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....
