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1.
Cell Stem Cell ; 29(1): 52-69.e8, 2022 01 06.
Article de Anglais | MEDLINE | ID: mdl-34624206

RÉSUMÉ

The human forebrain has expanded in size and complexity compared to chimpanzees despite limited changes in protein-coding genes, suggesting that gene expression regulation is an important driver of brain evolution. Here, we identify a KRAB-ZFP transcription factor, ZNF558, that is expressed in human but not chimpanzee forebrain neural progenitor cells. ZNF558 evolved as a suppressor of LINE-1 transposons but has been co-opted to regulate a single target, the mitophagy gene SPATA18. ZNF558 plays a role in mitochondrial homeostasis, and loss-of-function experiments in cerebral organoids suggests that ZNF558 influences developmental timing during early human brain development. Expression of ZNF558 is controlled by the size of a variable number tandem repeat that is longer in chimpanzees compared to humans, and variable in the human population. Thus, this work provides mechanistic insight into how a cis-acting structural variation establishes a regulatory network that affects human brain evolution.


Sujet(s)
Réseaux de régulation génique , Organoïdes , Encéphale/métabolisme , Protéines de liaison à l'ADN , Régulation de l'expression des gènes , Humains , Organoïdes/métabolisme , Facteurs de transcription/génétique , Facteurs de transcription/métabolisme
2.
Am J Otolaryngol ; 40(1): 57-60, 2019.
Article de Anglais | MEDLINE | ID: mdl-30472127

RÉSUMÉ

INTRODUCTION: Percutaneous dilatation tracheostomy (PDT) has several advantages over traditional surgical tracheostomy. However, it is still performed using bronchoscopy guidance. OBJECTIVE: To suggest the safety of unassisted PDT, without bronchoscopy guidance, based on bed-side screening flow chart evaluation. MATERIAL AND METHODS: 180 consecutive UCI patients referred to tracheostomy were submitted to Avalo's Screening Chart (ASC), in order to decide surgical technique. RESULTS: 161 patients were referred to unassisted PDT (un PDT) and 19 to surgical tracheostomy (ST) due to nonfulfillment of ASC steps. 10 patients submitted to unassisted PDT presented early complications, 8 presented mild bleeding and 2 false tracts. None of 6 months follow up patients presented long term complications. CONCLUSION: The authors suggest unPDT is a safety surgical method in UCI patients who were submitted and approved to an easy anatomical and clinical screening chart (ASC).


Sujet(s)
Prise de décision clinique , Arbres de décision , Sélection de patients , Trachéostomie , Adolescent , Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Algorithmes , Bronchoscopie , Études de cohortes , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte
3.
Nutr J ; 10: 108, 2011 Oct 11.
Article de Anglais | MEDLINE | ID: mdl-21985269

RÉSUMÉ

BACKGROUND: Inadequate eating behavior and physical inactivity contribute to the current epidemic of childhood obesity. The aim of this study was to assess the association between eating behavior scores and childhood obesity in Chilean children. DESIGN AND METHODS: We recruited 126 obese, 44 overweight and 124 normal-weight Chilean children (6-12 years-old; both genders) according to the International Obesity Task Force (IOTF) criteria. Eating behavior scores were calculated using the Child Eating Behavior Questionnaire (CEBQ). Factorial analysis in the culturally-adapted questionnaire for Chilean population was used to confirm the original eight-factor structure of CEBQ. The Cronbach's alpha statistic (>0.7 in most subscales) was used to assess internal consistency. Non-parametric methods were used to assess case-control associations. RESULTS: Eating behavior scores were strongly associated with childhood obesity in Chilean children. Childhood obesity was directly associated with high scores in the subscales "enjoyment of food" (P < 0.0001), "emotional overeating" (P < 0.001) and "food responsiveness" (P < 0.0001). Food-avoidant subscales "satiety responsiveness" and "slowness in eating" were inversely associated with childhood obesity (P < 0.001). There was a graded relation between the magnitude of these eating behavior scores across groups of normal-weight, overweight and obesity groups. CONCLUSION: Our study shows a strong and graded association between specific eating behavior scores and childhood obesity in Chile.


Sujet(s)
Comportement de l'enfant/psychologie , Comportement alimentaire/psychologie , Obésité/épidémiologie , Obésité/psychologie , Études cas-témoins , Enfant , Chili/épidémiologie , Consommation alimentaire , Femelle , Humains , Mâle , Surpoids , Satiété
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