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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
(Ferrata Storti Foundation, 2018)
variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ...
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
(Springer Nature, 2018)
BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors ...
SUHCAT study, part 5: comparison of staff and chiefs' perceptions of emergency department quality in Catalonia
(Sociedad Española de Medicina de Urgencias y Emergencias, 2018)
Are CONSORT checklists submitted by authors adequately reflecting what information is actually reported in published papers?
(Springer Nature, 2018)
Background: Compulsory submission of a checklist from the relevant reporting guideline is one of the most widespread journal requirements aiming to improve completeness of reporting. However, the current ...
Evaluación de competencias en comunicación clínica en estudiantes de medicina con paciente simulado
(SciELO, 2018)
Background: Communication skills are not learnt innately. It is therefore necessary to both train and evaluate medical students in this area. Aim: To evaluate communication skills of fourth-year medical ...
CPT1C promotes human mesenchymal stem cells survival under glucose deprivation through the modulation of autophagy
(Nature Research, 2018-05-03)
Human mesenchymal stem cells (hMSCs) are widely used in regenerative medicine. In some
applications, they must survive under low nutrient conditions engendered by avascularity. Strategies to
improve ...
Impaired cerebral autoregulation is associated with brain dysfunction in patients with sepsis
(Springer Nature, 2018-12-04)
Background: Sepsis-associated brain dysfunction (SABD) is associated with high morbidity and mortality. The pathophysiology of SABD is multifactorial. One hypothesis is that impaired cerebral autoregulation ...
Selective dorsal rhizotomy in cerebral palsy: selection criteria and postoperative physical therapy protocols
(SciELO, 2018)
Objective: To identify selection criteria for selective dorsal rhizotomy (SDR) in cerebral palsy, to analyze the instruments used for evaluation, and to describe the characteristics of physical therapy ...
Evaluation of RETICs glaucoma diagnostic calculators in preperimetric glaucoma
(Association for Research in Vision and Ophthalmology, 2018-11)
Purpose: To evaluate two glaucoma diagnostic calculators (GDC) in a group of eyes with preperimetric glaucoma (PPG).
Methods: All eyes (n = 265) included in this study had ocular hypertension with ...
Validation of the perceived stigmatization questionnaire for brazilian adult burn patients
(Public Library of Science, 2018)
Currently, there is no questionnaire to assess perceived stigmatization among people with visible differences in Brazil. The Perceived Stigmatization Questionnaire (PSQ), developed in the United States, ...