questionsmedicales.fr
Phénomènes génétiques
Ploïdies
Aneuploïdie
Monosomie
Monosomie : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Caryotype
Anomalies chromosomiques
Analyse de l'ADN
Séquençage
Anomalies congénitales
Retard de développement
Biopsie de villosités choriales
Anomalies chromosomiques
Échographie
Malformations congénitales
Symptômes
5
Retard de croissance
Troubles cognitifs
Malformations cardiaques
Anomalies congénitales
Troubles du développement
Retard de langage
Troubles du comportement
Difficultés d'apprentissage
Immunodéficience
Système immunitaire
Prévention
5
Suivi prénatal
Détection précoce
Soins prénatals
Alimentation équilibrée
Tests génétiques
Anomalies chromosomiques
Dépistage prénatal
Risques génétiques
Antécédents familiaux
Troubles chromosomiques
Traitements
5
Thérapie physique
Thérapie éducative
Chirurgie corrective
Malformations congénitales
Thérapie comportementale
Compétences sociales
Programmes de soutien
Soutien familial
Complications
5
Malformations congénitales
Troubles de la croissance
Fertilité
Anomalies chromosomiques
Troubles neurologiques
Développement cognitif
Facteurs de risque
5
Âge maternel
Antécédents familiaux
Infections
Complications chromosomiques
Toxines environnementales
Risque
Tabagisme
Habitudes de vie
Anomalies génétiques
Hérédité
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"name": "Quels tests génétiques sont utilisés ?",
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"@type": "Question",
"name": "Quels signes cliniques indiquent une monosomie ?",
"position": 3,
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"@type": "Question",
"name": "La biopsie de villosités choriales est-elle utile ?",
"position": 4,
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"position": 9,
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"position": 10,
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"name": "Peut-on prévenir la monosomie ?",
"position": 11,
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"position": 12,
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"@type": "Question",
"name": "Les tests génétiques sont-ils utiles avant la grossesse ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent aider à évaluer le risque de transmettre des anomalies chromosomiques."
}
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{
"@type": "Question",
"name": "Le dépistage prénatal est-il recommandé ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, le dépistage prénatal peut identifier des risques de monosomie."
}
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"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 15,
"acceptedAnswer": {
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"text": "Oui, des antécédents familiaux de troubles chromosomiques peuvent augmenter le risque."
}
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"name": "Quels traitements sont disponibles pour la monosomie ?",
"position": 16,
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"text": "Le traitement est symptomatique et peut inclure des thérapies physiques et éducatives."
}
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"name": "La chirurgie est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
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}
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"name": "Les médicaments peuvent-ils aider ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
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}
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{
"@type": "Question",
"name": "Comment la thérapie comportementale aide-t-elle ?",
"position": 19,
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"text": "Elle peut aider à gérer les troubles du comportement et améliorer les compétences sociales."
}
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{
"@type": "Question",
"name": "Y a-t-il des programmes de soutien disponibles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des programmes de soutien pour les familles et les patients sont souvent disponibles."
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{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec la monosomie ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des malformations congénitales et des troubles de la croissance."
}
},
{
"@type": "Question",
"name": "La monosomie peut-elle affecter la fertilité ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines formes de monosomie peuvent entraîner des problèmes de fertilité."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de cancer ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines monosomies sont associées à un risque accru de développer certains cancers."
}
},
{
"@type": "Question",
"name": "Les troubles neurologiques sont-ils possibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles neurologiques peuvent survenir, affectant le développement cognitif."
}
},
{
"@type": "Question",
"name": "La survie est-elle affectée par la monosomie ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "La survie dépend du type de monosomie et des complications associées."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de monosomie ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'âge maternel avancé et des antécédents familiaux de troubles chromosomiques sont des facteurs de risque."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse augmentent-elles le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections peuvent augmenter le risque de complications chromosomiques."
}
},
{
"@type": "Question",
"name": "L'exposition à des toxines est-elle un facteur ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à des toxines environnementales peut augmenter le risque de monosomie."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie influencent-elles le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des habitudes de vie comme le tabagisme peuvent influencer le risque de complications."
}
},
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"@type": "Question",
"name": "Y a-t-il des facteurs génétiques impliqués ?",
"position": 30,
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"text": "Oui, des anomalies génétiques héréditaires peuvent augmenter le risque de monosomie."
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 05/03/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Publications dans "Monosomie" :
3 publications dans cette catégorie
Publications dans "Monosomie" :
3 publications dans cette catégorie
Publications dans "Monosomie" :
3 publications dans cette catégorie
Publications dans "Monosomie" :
3 publications dans cette catégorie
Publications dans "Monosomie" :
3 publications dans cette catégorie
Publications dans "Monosomie" :
3 publications dans cette catégorie
Publications dans "Monosomie" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Affiliations :
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Affiliations :
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Affiliations :
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Nihon University Itabashi Hospital, Tokyo, Japan.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, Colorado, USA.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Publications dans "Monosomie" :
2 publications dans cette catégorie
Publications dans "Monosomie" :
1 publication dans cette catégorie
Affiliations :
Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University.
Publications dans "Monosomie" :
1 publication dans cette catégorie
Affiliations :
Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University.
Publications dans "Monosomie" :
1 publication dans cette catégorie
Affiliations :
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no.
Publications dans "Monosomie" :
1 publication dans cette catégorie
Affiliations :
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Publications dans "Monosomie" :
Traumatic brain injury (TBI) affects > 3 million people in the United States annually. Although the number of deaths related to severe TBIs has stabalized, mild TBIs, often termed concussions, are inc...
The high incidence of concussions/mild traumatic brain injury and the significant number of people with persisting concussion symptoms as well as the concern for delayed, neurodegenerative effects of ...
Millions of children sustain a concussion annually. Concussion disrupts cellular signaling and neural pathways within the brain but the resulting metabolic disruptions are not well characterized. Magn...
Blood-based biomarkers may clarify underlying neuropathology and potentially assist in clinical management of adolescents with sport-related concussion (SRC)....
To investigate the association between SRC and plasma biomarkers in adolescents....
Prospective cohort study in Canadian sport and clinic settings (Surveillance in High Schools and Community Sport to Reduce Concussions and Their Consequences study; September 2019 to November 2022). P...
Blood collection and clinical testing preseason (uninjured) and post-SRC follow-ups (ie, ≤72 hours, 1 week, and biweekly until medical clearance to return to play [RTP])....
Plasma glial fibrillary acidic protein (GFAP), ubiquitin c-terminal hydrolase-L1 (UCH-L1), neurofilament light (NfL), and total tau (t-tau) were assayed. Group-level comparisons of biomarker levels we...
This study included 1023 plasma specimens from 695 uninjured participants (467 male participants [67.2%]; median [IQR] age, 15.90 [15.13-16.84] years) and 154 participants with concussion (78 male par...
In this cohort study of 849 adolescents, plasma biomarkers differed between uninjured participants and those with concussions, supporting their continued use to understand concussion neuropathology. A...
Patients who suffer traumatic brain injury (TBI) often experience a constellation of physical, cognitive, and emotional/behavioral symptoms called "post-concussion symptoms" and subsequent long-term d...
A prospective cohort of 1322 individuals admitted with TBI were assessed in a specialist neurorehabilitation clinic at 10 weeks and 1-year post injury between August 2011 and July 2015. The outcome (p...
At 1 yr, 1131 individuals were identified (>90% follow-up). Over 20% exhibited moderate or severe symptom levels on RPQ. A linear regression model showed that previous psychiatric history, lower Glasg...
These findings confirm the high incidence of post-concussion symptoms at 1 yr and identify certain associated features that increase risk. This may allow targeting of certain groups, e.g., return to w...
Individuals recovering from mild traumatic brain injury (TBI) represent a heterogenous population that requires distinct treatment approaches. Identification of recovery trajectories improves our abil...
To utilize group-based trajectory modeling (GBTM) to identify distinct patterns of symptom recovery following mild TBI in the first 6 months after mild TBI....
This study is comprised of 253 adults who presented to the emergency department with mild TBI and completed assessments for six-months post-injury. Patients were recruited for the prospective observat...
Findings identified four distinct trajectories of symptom recovery follwing mild TBI including 9% of participants who were categorized with minimal acute symptoms that decreased over time, 45% with mi...
GBTM identified four distinct trajectories of recovery following mild TBI and GBTM may be useful for research interventions that can alter recovery trajectories....
Pediatric concussion has a rising incidence and can lead to long-term symptoms in nearly 30% of children. Resting state functional magnetic resonance imaging (rs-fMRI) disturbances are a common pathol...
Brain age is increasingly being applied to the spectrum of brain injury to define neuropathological changes in conjunction with blood-based biomarkers. However, data from the acute/sub-acute stages of...
Predicted brain age differences were independently calculated in large, prospectively recruited cohorts of pediatric concussion and matched healthy controls (total N = 446), as well as collegiate athl...
Findings of increased brain age during acute and sub-acute concussion were independently replicated across both cohorts, with stronger evidence of recovery for pediatric (4 months) relative to concuss...
Current and previous findings collectively suggest that the chronicity of brain age differences may be mediated by age at injury (adults > children), with preliminary findings suggesting that exposure...
Traumatic brain injury (TBI) and sports-related concussion (SRC) may result in chronic functional and neuroanatomical changes. We tested the hypothesis that neuroimaging findings (cerebral blood flow ...
Eleven controls, 12 athletes symptomatic following ≥3SRCs and 6 patients with moderate-severe TBI underwent MR scanning for evaluation of cortical thickness, brain metabolites (MRS), and CBF using pse...
RBANS-index was impaired in both injury groups and correlated with the injury severity, although not with any neuroimaging parameter. Cortical thickness correlated with injury severity (p = 0.02), whi...
Injury severity correlated with CBF, cognitive function, and cortical thickness. CBF also correlated with sex and was reduced in female, not male, athletes. Chronic CBF changes may contribute to the p...
Sports are yielding a wealth of benefits for cardiovascular fitness, for psychological resilience, and for cognition. The amount of practice, and the type of practiced sports, are of importance to obt...