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Alcohol use among fatally injured victims in São Paulo, Brazil: bridging the gap between research and health services in developing countries.
(2017-04)
BACKGROUND AND AIMS: Most studies reporting alcohol use among fatally injured victims are subject to bias, particularly those related to sample selection and to absence of injury context data. We developed a research method ...
Intravascular multimodality imaging: feasibility and role in the evaluation of coronary plaque pathology.
(Oxford University Press, 2017-02-17)
Coronary artery disease remains the leading cause of death in the developed world. Over recent years, research has been focused on the development of diagnostic intravascular imaging techniques that enable assessment of ...
Human Sepsis Eicosanoid and Proresolving Lipid Mediator Temporal Profiles: Correlations With Survival and Clinical Outcomes.
(2017-01)
OBJECTIVE: To identify and measure recently described chemical mediators, termed specialized pro-resolving mediators that actively regulate the resolution of acute-inflammation, and correlate measurements with clinical ...
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
(2017-08)
BACKGROUND: The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive lower limb spasticity. They are classified as either ...
The absence that makes the difference: choroidal abnormalities in Legius syndrome.
(2017-11)
Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and ...
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
(2017-10)
Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The ...
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
(2017-03)
Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed ...
7p22.1 microduplication syndrome: Refinement of the critical region.
(2017-02)
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, ...
Arterial Remodeling After Bioresorbable Scaffolds and Metallic Stents.
(2017-07-04)
BACKGROUND: Although previous observational studies have documented late luminal enlargement and expansive remodeling following implantation of a bioresorbable vascular scaffold (BVS), no comparison with metallic stents ...