[The virtual ILD board: a pilot project].
Interstitial lung diseases are associated with high morbitity and mortality. Rapid diagnosis in a qualified center is necessary in order to provide the best possible treatment. However, geographic dis...
Chromosomes X humains : Questions médicales fréquentes
Questions fréquentes et termes MeSH associés
Diagnostic 5
#1
Comment diagnostiquer une anomalie du chromosome X ?
Un caryotype ou un test génétique peut révéler des anomalies du chromosome X.
#2
Quels tests génétiques sont utilisés pour le chromosome X ?
Les tests de séquençage et les analyses de microdélétions sont courants.
#3
Quels symptômes indiquent une anomalie du chromosome X ?
Des symptômes peuvent inclure des troubles du développement et des problèmes de fertilité.
#4
Les échographies peuvent-elles détecter des anomalies chromosomiques ?
Oui, certaines anomalies peuvent être suspectées lors des échographies prénatales.
#5
Quel rôle joue le conseil génétique dans le diagnostic ?
Le conseil génétique aide à évaluer le risque et à interpréter les résultats des tests.
Symptômes 5
#1
Quels sont les symptômes du syndrome de Turner ?
Les symptômes incluent un retard de croissance, des anomalies cardiaques et des problèmes hormonaux.
#2
Comment se manifeste le syndrome de Klinefelter ?
Il se manifeste par une gynécomastie, une infertilité et des troubles d'apprentissage.
#3
Quels symptômes sont associés à l'X fragile ?
Des retards mentaux, des troubles du comportement et des caractéristiques physiques spécifiques.
#4
Les anomalies du chromosome X affectent-elles le développement physique ?
Oui, elles peuvent entraîner des malformations congénitales et des retards de développement.
#5
Y a-t-il des symptômes psychologiques liés aux anomalies du chromosome X ?
Oui, des troubles de l'humeur et des problèmes d'anxiété peuvent survenir.
Prévention 5
#1
Peut-on prévenir les anomalies du chromosome X ?
Certaines anomalies peuvent être évitées par le dépistage génétique et le conseil prénatal.
#2
Quel rôle joue la nutrition dans la prévention ?
Une bonne nutrition maternelle peut réduire le risque de complications chromosomiques.
#3
Les vaccinations peuvent-elles prévenir des anomalies ?
Certaines infections évitables par vaccination peuvent réduire les risques de malformations.
#4
Comment le suivi médical aide-t-il à prévenir les anomalies ?
Un suivi médical régulier permet de détecter précocement des problèmes potentiels.
#5
Le dépistage prénatal est-il recommandé ?
Oui, le dépistage prénatal est recommandé pour évaluer les risques d'anomalies chromosomiques.
Traitements 5
#1
Quels traitements sont disponibles pour le syndrome de Turner ?
Les traitements incluent des thérapies hormonales et un suivi médical régulier.
#2
Comment traiter le syndrome de Klinefelter ?
Le traitement peut inclure des thérapies hormonales et des interventions pour l'infertilité.
#3
Y a-t-il un traitement pour l'X fragile ?
Il n'existe pas de traitement curatif, mais des thérapies éducatives et comportementales aident.
#4
Les traitements sont-ils différents selon le sexe ?
Oui, les traitements peuvent varier en fonction des symptômes et des besoins spécifiques.
#5
Comment la physiothérapie aide-t-elle les patients ?
La physiothérapie peut améliorer la mobilité et la force musculaire chez les patients affectés.
Complications 5
#1
Quelles complications peuvent survenir avec le syndrome de Turner ?
Les complications incluent des problèmes cardiaques, rénaux et des troubles de la fertilité.
#2
Le syndrome de Klinefelter entraîne-t-il des complications ?
Oui, il peut entraîner des complications endocriniennes et des problèmes de santé mentale.
#3
Quelles sont les complications de l'X fragile ?
Les complications incluent des troubles d'apprentissage et des problèmes comportementaux.
#4
Les anomalies du chromosome X affectent-elles la longévité ?
Certaines anomalies peuvent réduire l'espérance de vie en raison de complications associées.
#5
Y a-t-il des complications liées à la grossesse avec ces anomalies ?
Oui, les femmes avec des anomalies chromosomiques peuvent avoir des grossesses à risque.
Facteurs de risque 5
#1
Quels facteurs augmentent le risque d'anomalies chromosomiques ?
L'âge maternel avancé et des antécédents familiaux augmentent le risque.
#2
Les facteurs environnementaux influencent-ils les anomalies ?
Oui, l'exposition à certaines substances chimiques peut augmenter le risque d'anomalies.
#3
Le tabagisme est-il un facteur de risque ?
Oui, le tabagisme pendant la grossesse est associé à un risque accru d'anomalies chromosomiques.
#4
Les maladies génétiques familiales augmentent-elles le risque ?
Oui, des antécédents de maladies génétiques dans la famille peuvent accroître le risque.
#5
L'alimentation joue-t-elle un rôle dans le risque d'anomalies ?
Une alimentation déséquilibrée peut contribuer à des risques accrus d'anomalies chromosomiques.
Contenu validé par Dr Olivier Menir
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 22/04/2025
Contenu vérifié selon les dernières recommandations médicales
Auteurs principaux
David C Page
5 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
- Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
- Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
-
The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma.
bioRxiv : the preprint server for biology 2024-06-06
-
GC-biased gene conversion in X-chromosome palindromes conserved in human, chimpanzee, and rhesus macaque.
G3 (Bethesda, Md.)
Claire Rougeulle
5 publications dans cette catégorie
Affiliations :
- Université de Paris, Epigenetics and Cell Fate, CNRS, F-75013 Paris, France catherine.patrat@aphp.fr claire.rougeulle@univ-paris-diderot.fr.
Publications dans "Chromosomes X humains" :
-
X chromosome inactivation in human development.
Development (Cambridge, England) 2020-01-03
-
Straight to the X: Modeling Human X Chromosome Inactivation in hESCs by FGF Signal Blockade.
Cell stem cell
-
Digging into X chromosome inactivation.
Science (New York, N.Y.) 2021-11-18
-
XIST dampens X chromosome activity in a SPEN-dependent manner during early human development.
Nature structural & molecular biology 2024-06-04
-
Altered X-chromosome inactivation predisposes to autoimmunity.
Science advances 2024-05-03
Helen Skaletsky
4 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
- Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
-
GC-biased gene conversion in X-chromosome palindromes conserved in human, chimpanzee, and rhesus macaque.
G3 (Bethesda, Md.)
Daniel W Bellott
4 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
-
GC-biased gene conversion in X-chromosome palindromes conserved in human, chimpanzee, and rhesus macaque.
G3 (Bethesda, Md.)
Amalia Dutra
4 publications dans cette catégorie
Affiliations :
- Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
Telomere-to-telomere assembly of a complete human X chromosome.
Nature 2020-07-14
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Evgenia Pak
4 publications dans cette catégorie
Affiliations :
- Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
Telomere-to-telomere assembly of a complete human X chromosome.
Nature 2020-07-14
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Adrianna K San Roman
3 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Alexander K Godfrey
3 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
- Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Laura V Blanton
3 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Jennifer F Hughes
3 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Laura Brown
3 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
- Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Sidaly Phou
3 publications dans cette catégorie
Affiliations :
- Whitehead Institute, Cambridge, MA 02142, USA.
- Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Ashley Buscetta
3 publications dans cette catégorie
Affiliations :
- Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Paul Kruszka
3 publications dans cette catégorie
Affiliations :
- Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Nicole Banks
3 publications dans cette catégorie
Affiliations :
- Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Patricia C Lasutschinkow
3 publications dans cette catégorie
Affiliations :
- Focus Foundation, Davidsonville, MD 21035, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Colleen Keen
3 publications dans cette catégorie
Affiliations :
- Focus Foundation, Davidsonville, MD 21035, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Shanlee M Davis
3 publications dans cette catégorie
Affiliations :
- Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Nicole R Tartaglia
3 publications dans cette catégorie
Affiliations :
- Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
- Developmental Pediatrics, eXtraOrdinarY Kids Program, Children's Hospital Colorado, Aurora, CO 80011, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Carole Samango-Sprouse
3 publications dans cette catégorie
Affiliations :
- Focus Foundation, Davidsonville, MD 21035, USA.
- Department of Pediatrics, George Washington University, Washington, DC 20052, USA.
- Department of Human and Molecular Genetics, Florida International University, Miami, FL 33199, USA.
Publications dans "Chromosomes X humains" :
-
The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 2023-02-08
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell genomics 2023-12-07
-
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology 2023-06-07
Sources (10000 au total)
A realist review of dyslexia pilot project research.
We conducted a realist review of state-authorized dyslexia pilot projects to understand how they have been implemented and evaluated, and the extent to which they adhere to best practice recommendatio...
A Quality Improvement Pilot Project for Noise Reduction in the NICU.
Increased noxious noise leads to adverse short-term and long-term effects on the growing neonate. The American Academy of Pediatrics recommends maintaining a noise level of less than 45 decibels (dBA)... The purpose of this pilot project was to reduce the average noise levels by 39% at the end of an 11-week period.... The location of the project was in a large, high-acuity level IV open-pod layout NICU that consisted of 4 pods, one of which was cardiac-focused. The average baseline noise level in the cardiac pod wa... At the end of the project, noise levels decreased from 62.6 dBA to 54 dBA, a 13.7% reduction.... At the end of this pilot project it was noted that: Online modules were the best way to educate staff. Parents should be included in the implementation of quality improvement. Healthcare providers nee...
Suicide Attempt Aftercare in Geriatric Patients: A Pilot Project.
Hospitalized patients after suicide attempts gave informed consent to a postvention project after discharge. A continuous caregiver contacted the subjects monthly by phone for a period of 1 year. In c...
Diagnostic Adjunct Techniques in the Assessment of Hypovolemia: A Prospective Pilot Project.
Measuring the hypovolemic resuscitation end point remains a critical care challenge. Our project compared clinical hypovolemia (CH) with three diagnostic adjuncts: 1) noninvasive cardiac output monito... Adult trauma/surgical intensive care unit patients were prospectively screened for suspected hypovolemia after acute resuscitation, excluding patients with burns, known heart failure, or severe liver/... 44 patients (62% male, median age 60) yielded 65 measures. Positive agreement with CH was 47% for NICOM, 37% for US-IVC and 10% for US-C. None of the three adjuncts correlated with CH (κ -0.045 to 0.0... None of the adjunct measurements correlated with CH or each other, highlighting that fluid status assessment remains challenging in critical care. US should assess for right ventricular dysfunction pr...
A hospital to community exercise referral pathway: results of a pilot project.
People living with chronic disease should ideally engage with community-based exercise services following hospital-based rehabilitation. However, transition from hospital to community exercise setting... The aims of this study were to develop and explore the feasibility of a pilot exercise referral pathway between an acute hospital and community gyms for patients with chronic health conditions and to ... A stakeholder-informed exercise referral pathway was developed and offered to patients following completion of a hospital-based exercise programme for a chronic health condition. The pathway was evalu... Forty-nine people living with chronic conditions (mean age 72 ± 7.8 years) participated (recruitment rate 59%). The average number of community gym visits over 4 months was 17.4 (range 0-51). Twenty-n... A structured exercise referral pathway to support exercise transition between hospital and community settings in populations with chronic health conditions appears feasible. Participants reported high...
Nursing Students and the Human Body: Application of an Ethics Pilot Project.
This manuscript offers findings from a pilot project which prepares nursing students for embodied professional practice through the lens of ethics. Four undergraduate nursing students were mentored by...
Web-based chlamydia education for university students: A pilot project.
Chlamydia disproportionately affects individuals aged 15-24 years. A lack of chlamydia knowledge in this high-risk group likely contributes to decreased testing, but interventions to increase chlamydi... A pre- and post-test design was used to evaluate participant knowledge of chlamydia before and after completing a nurse-developed web-based education intervention designed for university students.... Forty-seven undergraduate students at one U.S. university participated. A focus group and scientific evidence informed the development of the web-based education.... Participants had a significant increase in chlamydia knowledge after completing the online educational intervention (M = 8.0, SD = 0.000) compared to baseline (M = 6.5, SD = 1.5), t(33) = -5.821, p < ...
eHealth, teledentistry and health workforce challenges: results of a pilot project.
In the twenty-first century, health systems have to cope with the challenges posed by their rapidly changing environment. Among these changes, the emergence of digital health solutions is an opportuni... This study is based on a survey of the dental care provided by three units (Oral Medicine, Periodontology, Orthodontics) of the Department of Community Dentistry, Semmelweis University, Budapest. Duri... According to our findings, teledentistry has the potential to shorten the visit with an average of 5-10 min per patient, which adds up to 58-116 work hours in a year. If the pilot was rolled out to al... The rapid development of digital health technologies coupled with the evolving task distribution between health professionals have a great potential to improve health system performance in pursuit of ...
The DECON pilot project investigates predictive markers for successful bariatric surgery.
Obesity is a chronic, multifactorial disease which is linked to a number of adverse endocrinological and metabolic conditions. Currently, bariatric surgery is one of the most effective treatments for ...