Comment diagnostiquer une anomalie chromosomique ?

Un caryotype est réalisé pour examiner le nombre et la structure des chromosomes.

Quels tests génétiques sont disponibles ?

Les tests incluent l'analyse de l'ADN, le caryotype et le séquençage génomique.

Quels signes indiquent un problème chromosomique ?

Des malformations congénitales, des retards de développement ou des troubles de la fertilité.

Quand faire un test de dépistage chromosomique ?

Il est recommandé lors de grossesses à risque ou d'antécédents familiaux d'anomalies.

Quel rôle joue l'échographie dans le diagnostic ?

L'échographie peut détecter des anomalies physiques pouvant indiquer des problèmes chromosomiques.

Quels sont les symptômes des syndromes chromosomiques ?

Les symptômes varient, incluant des retards mentaux, des malformations et des troubles comportementaux.

Comment se manifestent les troubles liés aux chromosomes ?

Ils peuvent se manifester par des anomalies physiques, des problèmes de croissance ou des troubles neurologiques.

Les anomalies chromosomiques causent-elles des douleurs ?

Elles ne causent pas directement de douleurs, mais peuvent entraîner des complications douloureuses.

Y a-t-il des symptômes spécifiques au syndrome de Down ?

Oui, incluant un visage plat, des yeux en amande et un tonus musculaire faible.

Les troubles chromosomiques affectent-ils le comportement ?

Oui, certains peuvent entraîner des troubles du comportement ou des difficultés d'apprentissage.

Peut-on prévenir les anomalies chromosomiques ?

Certaines anomalies ne peuvent pas être prévenues, mais des conseils génétiques peuvent aider.

Quel rôle joue la santé maternelle ?

Une bonne santé maternelle avant et pendant la grossesse peut réduire certains risques chromosomiques.

Les tests de dépistage prénatal sont-ils efficaces ?

Oui, ils peuvent détecter certaines anomalies chromosomiques avant la naissance.

L'alimentation influence-t-elle les anomalies chromosomiques ?

Une alimentation équilibrée et des suppléments d'acide folique peuvent réduire certains risques.

Les antécédents familiaux augmentent-ils les risques ?

Oui, des antécédents familiaux d'anomalies chromosomiques peuvent augmenter le risque de récurrence.

Quels traitements existent pour les anomalies chromosomiques ?

Les traitements varient selon les symptômes et peuvent inclure thérapies, chirurgie ou médicaments.

La thérapie génique est-elle une option ?

La thérapie génique est en recherche pour certaines anomalies, mais n'est pas encore largement disponible.

Comment gérer les symptômes des syndromes chromosomiques ?

La gestion inclut des soins médicaux, des thérapies physiques et des soutiens éducatifs.

Les médicaments peuvent-ils aider ?

Oui, certains médicaments peuvent traiter des symptômes spécifiques comme l'anxiété ou l'hyperactivité.

Y a-t-il des interventions précoces recommandées ?

Oui, des interventions précoces en éducation et en thérapie sont cruciales pour le développement.

Quelles complications peuvent survenir avec des anomalies chromosomiques ?

Les complications incluent des problèmes de santé chroniques, des retards de développement et des troubles mentaux.

Les anomalies chromosomiques affectent-elles la fertilité ?

Oui, certaines anomalies peuvent entraîner des problèmes de fertilité chez les hommes et les femmes.

Y a-t-il des risques de maladies associées ?

Oui, les personnes avec des anomalies chromosomiques peuvent avoir un risque accru de certaines maladies.

Les complications peuvent-elles être traitées ?

Certaines complications peuvent être gérées avec des traitements médicaux ou des interventions.

Les personnes atteintes ont-elles besoin de soins continus ?

Oui, un suivi médical régulier est souvent nécessaire pour gérer les complications à long terme.

Quels sont les facteurs de risque pour les anomalies chromosomiques ?

Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et certaines expositions environnementales.

L'âge des parents influence-t-il les risques ?

Oui, l'âge avancé des parents, surtout de la mère, augmente le risque d'anomalies chromosomiques.

Les expositions environnementales sont-elles un risque ?

Certaines expositions, comme les radiations ou les produits chimiques, peuvent augmenter les risques.

Les maladies génétiques augmentent-elles les risques ?

Oui, des antécédents de maladies génétiques dans la famille peuvent accroître le risque d'anomalies.

Le mode de vie peut-il influencer les risques ?

Oui, des habitudes comme le tabagisme ou l'alcool peuvent augmenter le risque d'anomalies chromosomiques.

Chromosomes humains - Informations médicales vérifiées

Understanding triage assessment of acuity by emergency nurses at initial adult patient presentation: A qualitative systematic review.

Nov 2023

DOI: 10.1016/j.ienj.2023.101334 PMID: 37716173

Nurses make complex triage decisions within emergency departments, which significantly affect patient outcomes. Understanding how nurses make these decisions and why they deviate from triage algorithm... This qualitative systematic review aimed to understand decision-making processes emergency nurses use to make acuity decisions during triage assessment at initial patient presentation.... Medline, CINAHL and Academic Search Complete were systematically searched to 15th December 2022. Data were analysed using thematic synthesis. Established themes were reviewed with GRADE-CERQual to eva... 28 studies were included in the review. Data analysis uncovered three superordinate themes of holistic reasoning, situational awareness, and informed decision-making. The findings show nurses value ho... This review presents new perspectives on nurses' decision-making processes about patient's acuity. Nurses holistically gather information about patients before translating that information into acuity...

Humans Adult Triage Decision Making Emergency Nursing +2 autres

Association between initial presenting level of consciousness and patient acuity - A potential application for secondary triage in emergency ambulance calls.

Sep 2023

DOI: 10.1016/j.auec.2022.11.002 PMID: 36496330

Conscious state assessment is important for the triage of emergency patients. In this study, we measured the association between ambulance patients' conscious state and high versus lower acuity, with ... Data were analysed from one year of emergency ambulance incidents in Perth, Western Australia. Patient conscious state at the time of paramedic arrival was compared to acuity (based on paramedic asses... The proportion of high acuity patients increased with each step across the consciousness scale. Applying conscious state as a binary predictor of acuity, the largest increases occurred moving the thre... Based on these proportions of high acuity patients, it is reasonable to consider patients with any altered conscious state a high priority. The value of conscious state assessment for predicting acuit...

Humans Triage Ambulances Consciousness Retrospective Studies +1 autres

Use of a Large Language Model to Assess Clinical Acuity of Adults in the Emergency Department.

01 May 2024

DOI: 10.1001/jamanetworkopen.2024.8895 PMID: 38713466

The introduction of large language models (LLMs), such as Generative Pre-trained Transformer 4 (GPT-4; OpenAI), has generated significant interest in health care, yet studies evaluating their performa... To determine whether an LLM can accurately assess clinical acuity in the emergency department (ED).... This cross-sectional study identified all adult ED visits from January 1, 2012, to January 17, 2023, at the University of California, San Francisco, with a documented Emergency Severity Index (ESI) ac... The potential of the LLM to classify acuity levels of patients in the ED based on the ESI across 10 000 patient pairs. Using deidentified clinical text, the LLM was queried to identify the patient wit... Accuracy score was calculated to evaluate the performance of both LLMs across the 10 000-pair sample. A 500-pair subsample was manually classified by a physician reviewer to compare performance betwee... From a total of 251 401 adult ED visits, a balanced sample of 10 000 patient pairs was created wherein each pair comprised patients with disparate ESI acuity scores. Across this sample, the LLM correc... In this cross-sectional study of 10 000 pairs of ED visits, the LLM accurately identified the patient with higher acuity when given pairs of presenting histories extracted from patients' first ED docu...

Humans Emergency Service, Hospital Cross-Sectional Studies Adult Male +5 autres

Redirection of low-acuity emergency department patients to nearby medical clinics using an electronic medical support system: effects on emergency department performance indicators.

13 Sep 2024

DOI: 10.1186/s12873-024-01080-0 PMID: 39272018

Overcrowded emergency departments (EDs) are associated with higher morbidity and mortality and suboptimal quality-of-care. Most ED flow management strategies focus on early identification and redirect... We performed a retrospective observational study in the ED of a Canadian tertiary trauma center where a redirection process for low-acuity patients was implemented. The process was based on a clinical... Of 242,972 ED attendees over the study period, 9546 (8% of 121,116 post-intervention patients) were redirected to a nearby primary medical clinic. After the redirection process was implemented, length... Implementing a redirection process for low-acuity ED patients based on a clinical support system was associated with improvements in two of four ED performance indicators....

Humans Retrospective Studies Female Male Triage +11 autres

"I do not know the advantages of having a general practitioner" - a qualitative study exploring the views of low-acuity emergency patients without a regular general practitioner toward primary care.

15 May 2024

DOI: 10.1186/s12913-024-10977-2 PMID: 38750500

Emergency departments (ED) worldwide have to cope with rising patient numbers. Low-acuity consulters who could receive a more suitable treatment in primary care (PC) increase caseloads, and lack of PC... Qualitative semi-structured telephone interviews were conducted with 32 low-acuity ED consulters with no self-reported attachment to a GP. Participants were recruited from three EDs in the city center... Interviewed patients reported heterogeneous factors contributing to their PC utilization behavior and underlying views and experiences. Participants most prominently voiced a rare need for medical ser... Understanding reasons of low-acuity ED patients for GP non-utilization can play an important role in the design and implementation of patient-centered care interventions for PC integration. Increasing... German Clinical Trials Register: DRKS00023480; date: 2020/11/27....

Humans Qualitative Research Male Primary Health Care Female +8 autres

The potential of virtual triage AI to improve early detection, care acuity alignment, and emergent care referral of life-threatening conditions.

2024

DOI: 10.3389/fpubh.2024.1362246 PMID: 38807993

To evaluate the extent to which patient-users reporting symptoms of five severe/acute conditions requiring emergency care to an AI-based virtual triage (VT) engine had no intention to get such care, a... A dataset of 3,022,882 VT interviews conducted over 16 months was evaluated to quantify and describe patient-users reporting symptoms of five potentially life-threatening conditions whose pre-triage h... Healthcare intent data was obtained for 12,101 VT patient-user interviews. Across all five conditions a weighted mean of 38.5% of individuals whose VT indicated a condition requiring emergency care ha... AI-based VT may offer a vehicle for early detection and care acuity alignment of severe evolving pathology by engaging patients who believe their symptoms are not serious, and for accelerating care re...

Humans Triage Female Male Referral and Consultation +8 autres

Predicting Visual Acuity in Patients Treated for AMD.

20 Jun 2022

DOI: 10.3390/diagnostics12061504 PMID: 35741314

The leading diagnostic tool in modern ophthalmology, Optical Coherence Tomography (OCT), is not yet able to establish the evolution of retinal diseases. Our task is to forecast the progression of reti...

Prediction of Visual Acuity in Patients With Microbial Keratitis.

01 Feb 2023

DOI: 10.1097/ICO.0000000000003129 PMID: 36256452

The purpose of this study was to predict visual acuity (VA) 90 days after presentation for patients with microbial keratitis (MK) from data at the initial clinical ophthalmic encounter.... Patients with MK were identified in the electronic health record between August 2012 and February 2021. Random forest (RF) models were used to predict 90-day VA < 20/40 [visual impairment (VI)]. Predi... One thousand seven hundred ninety-one patients were identified. The presenting logMAR VA was on average 0.86 (Snellen equivalent and standard deviation = 20/144 ± 12.6 lines) in the affected or worse ... RF modeling yielded good sensitivity and specificity to predict VI at 90 days which could guide clinicians about the risk of poor vision outcomes for patients with MK....

Humans Visual Acuity Keratitis Vision, Low

Refractive Surgery Patient Characteristics Associated With Satisfaction Scores.

Aug 2024

DOI: 10.3928/1081597X-20240611-02 PMID: 39120021

To determine factors influencing patient satisfaction scores in recipients of refractive surgery.... In this prospective survey-based study, patients who had refractive surgery at an outpatient refractive clinic completed a survey of selected questions from the Press Ganey survey and the National Eye... Fifty-three patients were recruited over a 3-year period. Most were male (55%) and middle aged (mean age: 34 years). Eleven percent underwent photorefractive keratectomy surgery and the rest had laser... This study found persistent high patient satisfaction score across a variation of characteristics, suggesting that optimal scores are mainstay after refractive surgery procedures with excellent visual...

Humans Prospective Studies Male Patient Satisfaction Female +12 autres

Lung function trajectories in patients with idiopathic pulmonary fibrosis.

24 Aug 2023

DOI: 10.1186/s12931-023-02503-5 PMID: 37612608

Idiopathic pulmonary fibrosis (IPF) is a progressive fibrosing interstitial lung disease characterised by decline in lung function. We evaluated trajectories of forced vital capacity (FVC) and diffusi... Patients with IPF that was diagnosed or confirmed at the enrolling centre in the previous 6 months were enrolled into the IPF-PRO Registry between June 2014 and October 2018. Patients were followed pr... Of 1002 patients in the registry, 941 had ≥ 1 FVC and/or DLco measurement after enrolment. The median (Q1, Q3) follow-up period was 35.1 (18.9, 47.2) months. Overall, mean estimated declines in FVC an... Data from the IPF-PRO Registry suggest a constant rate of decline in lung function over a prolonged period, supporting the inexorably progressive nature of IPF. A graphical abstract summarising the da... NCT01915511....

Female Humans Male Idiopathic Pulmonary Fibrosis Lung +3 autres

Chromosomes humains : Questions médicales fréquentes

Termes MeSH sélectionnés :

Questions fréquentes et termes MeSH associés

Diagnostic 5

Symptômes 5

Prévention 5

Traitements 5

Complications 5

Facteurs de risque 5

Contenu validé par Dr Olivier Menir

Sous-catégories

Chromosomes humains 1-3

Chromosomes humains 4-5

Chromosomes humains 6-12 et X

Chromosomes humains 13-15

Chromosomes humains 16-18

Chromosomes humains 19-20

Chromosomes humains 21-22 et Y

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Auteurs principaux

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