How To Read a Network Meta-analysis.
Network meta-analysis (NMA) expands upon traditional meta-analysis by integrating three or more interventions. This allows comparing interventions using evidence from trials that have compared pairs o...
Hémizygote : Questions médicales fréquentes
Questions fréquentes et termes MeSH associés
Diagnostic 5
#1
Comment diagnostiquer un état hémizygote ?
Le diagnostic repose sur l'analyse génétique et l'examen des chromosomes.
#2
Quels tests génétiques sont utilisés ?
Des tests comme le séquençage de l'ADN et l'hybridation in situ sont courants.
#3
L'hémizygote est-il visible sur un caryotype ?
Oui, les anomalies chromosomiques peuvent indiquer un état hémizygote.
#4
Quels signes cliniques peuvent indiquer un hémizygote ?
Des signes peuvent inclure des traits phénotypiques spécifiques liés à des gènes X.
#5
L'hémizygote est-il associé à des maladies ?
Oui, certaines maladies génétiques sont liées à l'hémizygotie, comme l'hémophilie.
Symptômes 5
#1
Quels symptômes sont associés à l'hémizygotie ?
Les symptômes varient selon le gène affecté, incluant des troubles de la coagulation.
#2
L'hémizygote peut-il causer des anomalies physiques ?
Oui, certaines conditions hémizygotes peuvent entraîner des anomalies physiques visibles.
#3
Y a-t-il des symptômes neurologiques liés ?
Certaines formes d'hémizygotie peuvent être associées à des troubles neurologiques.
#4
Les symptômes varient-ils selon le sexe ?
Oui, les symptômes peuvent différer entre les hommes et les femmes en raison de l'hémizygotie.
#5
L'hémizygote est-il lié à des troubles mentaux ?
Certaines études suggèrent un lien entre l'hémizygotie et des troubles mentaux spécifiques.
Prévention 5
#1
Comment prévenir les maladies liées à l'hémizygotie ?
Le dépistage génétique et le conseil génétique sont essentiels pour la prévention.
#2
Le conseil génétique est-il recommandé ?
Oui, le conseil génétique aide à évaluer les risques et à informer les familles.
#3
Y a-t-il des tests prénataux disponibles ?
Oui, des tests prénataux peuvent détecter certaines conditions hémizygotes avant la naissance.
#4
Les vaccinations peuvent-elles aider ?
Les vaccinations ne préviennent pas l'hémizygotie, mais protègent contre d'autres maladies.
#5
L'éducation génétique est-elle importante ?
Oui, l'éducation génétique aide à comprendre les risques et les implications de l'hémizygotie.
Traitements 5
#1
Quels traitements existent pour l'hémizygotie ?
Le traitement dépend de la condition sous-jacente, incluant thérapies géniques ou médicamenteuses.
#2
Peut-on prévenir les effets de l'hémizygotie ?
La prévention dépend de la maladie spécifique, avec des options comme le dépistage génétique.
#3
Les traitements sont-ils différents pour les hommes et les femmes ?
Oui, les traitements peuvent varier en fonction du sexe et de la condition génétique.
#4
Y a-t-il des thérapies spécifiques pour l'hémophilie ?
Oui, des traitements comme les facteurs de coagulation sont utilisés pour l'hémophilie.
#5
Les thérapies géniques sont-elles efficaces ?
Les thérapies géniques montrent des résultats prometteurs pour certaines conditions hémizygotes.
Complications 5
#1
Quelles complications peuvent survenir avec l'hémizygotie ?
Les complications varient selon la condition, incluant des troubles de la santé physique et mentale.
#2
L'hémizygotie peut-elle affecter la fertilité ?
Oui, certaines conditions hémizygotes peuvent entraîner des problèmes de fertilité.
#3
Y a-t-il des risques de maladies cardiovasculaires ?
Certaines études montrent un lien entre l'hémizygotie et un risque accru de maladies cardiovasculaires.
#4
Les complications sont-elles réversibles ?
Cela dépend de la condition; certaines complications peuvent être gérées, d'autres non.
#5
L'hémizygotie est-elle liée à des cancers ?
Certaines formes d'hémizygotie peuvent être associées à un risque accru de certains cancers.
Facteurs de risque 5
#1
Quels sont les facteurs de risque de l'hémizygotie ?
Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques.
#2
L'âge parental influence-t-il le risque ?
Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques.
#3
Les facteurs environnementaux jouent-ils un rôle ?
Oui, certains facteurs environnementaux peuvent interagir avec la génétique et augmenter le risque.
#4
Y a-t-il des prédispositions raciales ?
Certaines populations peuvent avoir des prédispositions génétiques spécifiques à l'hémizygotie.
#5
Les habitudes de vie influencent-elles le risque ?
Oui, des habitudes de vie comme le tabagisme peuvent interagir avec des facteurs génétiques.
Contenu validé par Dr Olivier Menir
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 06/04/2025
Contenu vérifié selon les dernières recommandations médicales
Auteurs principaux
Xiaomeng Yang
2 publications dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
-
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem cell research 2020-12-28
-
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem cell research 2020-01-17
Haiyan Zhang
2 publications dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
-
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem cell research 2020-12-28
-
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem cell research 2020-01-17
Yue Li
2 publications dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
-
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem cell research 2020-12-28
-
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem cell research 2020-01-17
Jingyun Guan
2 publications dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
-
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem cell research 2020-12-28
-
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem cell research 2020-01-17
Dong Wang
2 publications dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
-
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem cell research 2020-12-28
-
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem cell research 2020-01-17
Zhongtao Gai
2 publications dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
-
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem cell research 2020-12-28
-
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem cell research 2020-01-17
Yi Liu
2 publications dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.
Publications dans "Hémizygote" :
-
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem cell research 2020-12-28
-
Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem cell research 2020-01-17
Kuntal Sen
1 publication dans cette catégorie
Affiliations :
- Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA. Electronic address: ksen2@childrensnational.org.
Publications dans "Hémizygote" :
-
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021-01-22
George Grahame
1 publication dans cette catégorie
Affiliations :
- Center for Inherited Disorders of Energy Metabolism, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Publications dans "Hémizygote" :
-
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021-01-22
Jirair K Bedoyan
1 publication dans cette catégorie
Affiliations :
- Center for Inherited Disorders of Energy Metabolism, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, USA; Department of Pediatrics, Case Western Reserve University, Cleveland, USA.
Publications dans "Hémizygote" :
-
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021-01-22
Andrea L Gropman
1 publication dans cette catégorie
Affiliations :
- Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA.
Publications dans "Hémizygote" :
-
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021-01-22
Ana Joana Duarte
1 publication dans cette catégorie
Affiliations :
- Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; ICBAS, University of Porto, 4099-002 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal.
Publications dans "Hémizygote" :
-
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Stem cell research 2020-04-20
Diogo Ribeiro
1 publication dans cette catégorie
Affiliations :
- Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; ICBAS, University of Porto, 4099-002 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal.
Publications dans "Hémizygote" :
-
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Stem cell research 2020-04-20
Renato Santos
1 publication dans cette catégorie
Affiliations :
- Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.
Publications dans "Hémizygote" :
-
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Stem cell research 2020-04-20
Luciana Moreira
1 publication dans cette catégorie
Affiliations :
- Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.
Publications dans "Hémizygote" :
-
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Stem cell research 2020-04-20
José Bragança
1 publication dans cette catégorie
Affiliations :
- Deprtamento de Ciências Biomédicas e Medicina, Centre for Biomedical Research (CBMR), ABC-Algarve Biomedical Centre, University of Algarve, Campus of Gambelas, 8005-139 Faro, Portugal.
Publications dans "Hémizygote" :
-
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Stem cell research 2020-04-20
Olga Amaral
1 publication dans cette catégorie
Affiliations :
- Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal. Electronic address: olga.amaral@insa.min-saude.pt.
Publications dans "Hémizygote" :
-
Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Stem cell research 2020-04-20
Chunhong Duan
1 publication dans cette catégorie
Affiliations :
- Department of Pediatrics, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
Yuqiang Lv
1 publication dans cette catégorie
Affiliations :
- Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
Beibei Yan
1 publication dans cette catégorie
Affiliations :
- Neonatology Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Publications dans "Hémizygote" :
Sources (10000 au total)
Methodological quality of network meta-analysis in dentistry: a meta-research.
This meta-research aimed to provide an overview of the methodological quality and risk of bias of network meta-analyses (NMA) in dentistry. Searches for NMA of randomized clinical trials with clinical...
Effects of non-pharmacological interventions for adults with subjective cognitive decline: a network meta-analysis and component network meta-analysis.
Non-pharmacological interventions have a myriad of available intervention options and contain multiple components. Whether specific components of non-pharmacological interventions or combinations are ... PubMed, Embase, Cochrane, CINAHL, PsycINFO, CENTRAL, Web of Science, and China's two largest databases, CNKI and Wanfang, were searched from inception to 22nd, January 2023. Randomized controlled tria... A total of 39 trials with 2959 patients were included (range of mean ages, 58.79-77.41 years). Resistance exercise might be the optimal intervention for reducing memory complaints in adults with subje... The form of physical activity performed appears to be more beneficial than cognitive interventions in reducing subjective memory complaints for adults with subjective cognitive decline, and this diffe... PROSPERO registry number. CRD42022355363....
Network meta-interpolation: Effect modification adjustment in network meta-analysis using subgroup analyses.
Effect modification (EM) may cause bias in network meta-analysis (NMA). Existing population adjustment NMA methods use individual patient data to adjust for EM but disregard available subgroup informa...
Treatments for alopecia areata: a network meta-analysis.
Alopecia areata is an autoimmune disease leading to nonscarring hair loss on the scalp or body. There are different treatments including immunosuppressants, hair growth stimulants, and contact immunot... To assess the benefits and harms of the treatments for alopecia areata (AA), alopecia totalis (AT), and alopecia universalis (AU) in children and adults.... The Cochrane Skin Specialised Register, CENTRAL, MEDLINE, Embase, ClinicalTrials.gov and WHO ICTRP were searched up to July 2022.... We included randomised controlled trials (RCTs) that evaluated classical immunosuppressants, biologics, small molecule inhibitors, contact immunotherapy, hair growth stimulants, and other therapies in... We used the standard procedures expected by Cochrane including assessment of risks of bias using RoB2 and the certainty of the evidence using GRADE. The primary outcomes were short-term hair regrowth ... We included 63 studies that tested 47 different treatments in 4817 randomised participants. All trials used a parallel-group design except one that used a cross-over design. The mean sample size was 7... We found that treatment with baricitinib results in an increase in short- and long-term hair regrowth compared to placebo. Although we found inconclusive results for the risk of serious adverse effect...
Bias propagation in network meta-analysis models.
Network meta-analysis combines direct and indirect evidence to compare multiple treatments. As direct evidence for one treatment contrast may be indirect evidence for other treatment contrasts, biases...
Does type of funding affect reporting in network meta-analysis? A scoping review of network meta-analyses.
Evidence has shown that private industry-sponsored randomized controlled trials (RCTs) and meta-analyses are more likely to report intervention-favourable results compared with other sources of fundin... To (a) explore the recommendation rate of industry-sponsored NMAs on their company's intervention, and (b) assess reporting in NMAs of pharmacologic interventions according to their funding type.... Design: Scoping review of published NMAs with RCTs.... We used a pre-existing NMA database including 1,144 articles from MEDLINE, EMBASE and Cochrane Database of Systematic Reviews, published between January 2013 and July 2018.... NMAs with transparent funding information and comparing pharmacologic interventions with/without placebo.... We captured whether NMAs recommended their own or another company's intervention, classified NMAs according to their primary outcome findings (i.e., statistical significance and direction of effect), ... We retrieved 658 NMAs, which reported a median of 23 items in the PRISMA-NMA checklist (interquartile range [IQR]: 21-26). NMAs were categorized as 314 publicly-sponsored (PRISMA-NMA median 24.5, IQR ... Differences in completeness of reporting and author characteristics were apparent among NMAs with different types of funding. Publicly-sponsored NMAs had the best reporting and published their finding...
Efficacy of innovative therapies in myasthenia gravis: A systematic review, meta-analysis and network meta-analysis.
Therapy for myasthenia gravis (MG) is undergoing a profound change, with new treatments being tested. These include complement inhibitors and neonatal Fc receptor (FcRn) blockers. The aim of this stud... We assessed statistical heterogeneity across trials based on the Cochrane Q test and I... We observed an overall mean Myasthenia Gravis-Activities of Daily Living scale (MG-ADL) score change of -2.17 points (95% confidence interval [CI] -2.67, -1.67; p < 0.001) as compared to placebo. No s... Anti-complement and FcRn treatments both proved to be effective in MG patients, whereas rituximab did not show a significant benefit for patients. Within the limitations of this meta-analysis, includi...
Effectiveness of aerobic exercise in the prevention and treatment of postpartum depression: Meta-analysis and network meta-analysis.
Aerobic exercise is widely recognized for improving mental health and reducing negative emotions, including anxiety. However, research on its role in preventing and treating postpartum depression (PPD... We conducted a quantitative systematic review of the study in 5 representative databases for the effect of aerobic exercise on PPD. Meta-analysis and network meta-analysis were performed with Review-M... Twenty-six studies with 2,867 participants were eventually included and the efficacy of aerobic exercise in preventing and treating postpartum depression is significant compared to standard care. (MD ... The efficacy of aerobic exercise in preventing and treating postpartum depression is significant compared to standard care, with a greater emphasis on prevention. The optimal prescribed exercise volum...
Antibiotic Prophylaxis in Reduction Mammaplasty: A Network Meta-Analysis.
Mounting evidence suggests that breast reduction surgery displays higher rates of surgical site infections (SSI) than initially presumed. Objective of this network meta-analysis is to evaluate the eff... A network meta-analysis was conducted using a predetermined protocol after searching the electronic databases MEDLINE, Scopus, the Cochrane Library and US National Institutes of Health Ongoing Trials ... A total of 10 studies was included in the analysis involving 1331 patients. All but one study controlled for major risk factors, and no differences were observed in patients' baseline characteristics.... Antibiotics mitigate the SSI rate after breast reduction. This meta-analysis provides an evidence-based strategy to optimize antibiotic administration. Further research is needed though to examine ant... This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Inst...