questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Chromosomes
Chromosomes de mammifère
Chromosomes humains
Chromosomes humains : Questions médicales fréquentes
Termes MeSH sélectionnés :
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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"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 ?",
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"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 ?",
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"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 ?",
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"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 ?",
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"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 ?",
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"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 ?",
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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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This observational-descriptive time and motion study was conducted to determine how heavy home care nurses' workload is and how they allocate their work time to home healthcare. It was carried out in ...
Nurses in psychiatric inpatient care spend less time than desired with patients and investigation of the nature of nursing in this setting is needed. This study explores how nursing activities in psyc...
Efficient planning of the oral health workforce in Primary Health Care (PHC) is paramount to ensure equitable community access to services. This requires a meticulous examination of the population's n...
Calculate the average time parameters for the activities carried out by the oral health team in primary health care....
This is a descriptive observational study using the time-motion method carried out in five Primary Health Care Units in the city of São Paulo, SP, Brazil. Direct and continuous observation of oral hea...
A total of 696.05 h of observation were conducted with 12 Dentists, three Oral Health Assistants, and five Oral Health Technicians. The Dentists' main activity was consultation with an average duratio...
The study establishes time standards for the activities performed by the dental care team and provides support for the application of workforce planning methods that allow for review and optimization ...
The aim of this study was to determine how much time nurses spend on direct and indirect patient care in acute and subacute hospital settings....
Quantifying direct and indirect nursing care provided during inpatient stay is vital to optimise the quality of care and manage resources....
Time and motion cross-sectional observational study and reported the study according to the STROBE guideline....
Nurses working in an acute or subacute medical wards of a single health service participated. Nurses were observed twice for 2 h on the same day with an observer break in between sessions. Real-time t...
Twenty-one nurses (acute n = 12, subacute n = 9) were observed during shifts between 7 AM and 9 PM in May-July 2021. A total of 7240 tasks were recorded. Nurses spent a third of their time on direct p...
Time spent on tasks was similar regardless of the setting and was consistent with previous research. We found differences in the distribution of tasks throughout the day between settings, which could ...
This time-motion study explored the amount of time clinicians spent on wound assessments in a real-world environment using wound assessment digital application utilizing Artificial Intelligence (AI) v...
Clinicians practicing at Valley Wound Center who agreed to join the study were asked to record the time needed to complete wound assessment activities for patients with active wounds referred for a ro...
A total of 91 patients with 115 wounds were assessed. The average time to capture and access wound image with the AI digital tool was significantly faster than a standard digital camera with an averag...
Using the digital assessment tool saved significant time for clinicians in assessing wounds. It also successfully captured quality wound images at the first attempt....
School-based health (SBH) programmes that are contingent on primary school teachers are options to increase access to malaria treatment among learners. However, perceptions that provision of healthcar...
A time and motion study was conducted in 10 primary schools in rural Malawi. Teachers who had been trained to diagnose and treat uncomplicated malaria were continuously observed in real time during sc...
Seventy-four teachers, trained to use LTK, were observed. Their mean age and years of teaching experience were 34.7 and 8.7, respectively. Overall, 739.8 h of teacher observations took place. The aver...
School-based health (SBH) programmes are not detrimental to teaching activities. Teachers manage their time to ensure additional time required for SBH services is not at the expense of teaching duties...
Community health workers (CHWs) are essential field-based personnel and increasingly used to deliver priority interventions to achieve universal health coverage. Existing literature allude to the pote...
A time and motion study was conducted in 7 health facilities in Malawi. Data was collected at baseline between October-July 2019, and 12 months after CCSPT implementation between July and August 2021....
Thirty-seven (n = 37) CHWs were observed. Their mean age and years of experience were 42 and 17, respectively. Overall, CHWs were observed for 323 hours (inter quartile range: 2.8-5.5). Compared with ...
Introduction of CCSPT was not very detrimental to pre-existing community services. CHWs managed their time ensuring additional efforts required for CCSPT were not at the expense of essential activitie...
Ageing populations and care workforce shortages across Europe are causing challenges for care services for older people. Therefore, it is paramount that limited care resources are allocated optimally,...
Cross-sectional observational study design with data from time and motion study, registers, and surveys was used. In total, 1477 home care clients and 1538 residents from assisted living facilities wi...
Physical functioning was the strongest predictor of received care time in both care settings. In home care, greater pain, more unstable health, and higher team autonomy were associated with increased ...
Physical functioning was the main driver of received care time. Interventions that maintain or improve physical functioning can help restrain the growing need of care resources, although it is importa...
The aim of the present study was to determine the time-motion structure of high-level taekwondo matches during the Tokyo 2020 Olympic Games in relation to sex, match outcome, weight category and match...
Overall, 7007 actions were recorded during the analysis of 134 performances (67 rounds of 24 matches: four rounds of 16, eight quarterfinals, eight semifinals and four finals) in male and female flywe...
The AT/ST ratio was ~1:1.5. Male athletes performed significantly longer (P<0.001) sum PT than female athletes. Flyweight athletes differed significantly from their heavyweight counterparts by having ...
The rule changes and the implementation of the electronic score recording system had a major impact on the time-motion structure of combat by generating a considerably higher AT/ST ratio than in the p...
Early childhood caries (ECC) is a major global health issue affecting millions of children. Mitigating this problem requires up-to-date information from reliable surveillance systems. This enables evi...
The DHIS2 Server was configured for the DHIS2 Tracker Android Capture App to allow individual-level data entry. The EOHSS indicators were selected in line with the WHO Action Plan 2030. Two modalities...
The pilot team reported positive feedback on the structure of the EOHSS. Workflow adaptations were made to prioritize surveillance tasks by collecting data from caregivers before acquiring clinical da...
The DHIS2 provides a feasible solution for developing electronic, oral health surveillance systems. The one-minute difference in data capture time in telemodality compared to face-to-face indicates th...
