Francisco José Cambra

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INTRODUCTION PKU is an autosomal recessive disorder. There is a broad spectrum phenotype which depends mainly on residual enzymatic activity and also on other factors such as modifying genes and non-genetic factors. This fact makes us consider that a multidisciplinary study of these patients is necessary to improve knowledge of the condition. OBJECTIVE To(More)
INTRODUCTION The WHO has qualified stress as a 'world epidemic' due to its increasingly greater incidence on health. The work described in this paper represents an attempt to objectively quantify the level of stress. AIM The aim of the method developed here is to measure how close or how far a subject is from a situation that can be considered 'normal' in(More)
Jarcho-Levin syndrome is a rare disorder characterised by defects in vertebral and costal segmentation of varying severity. Respiratory complications are the main cause of death or severe comorbidity due to a restrictive rib cage. A 3 months old infant with Spondylocostal dysostosis and associated bronchomalacia experiencing severe asynchrony during the(More)
Pial arteriovenous fistulas (pAVF) of the posterior fossa are rare and may present with symptoms secondary to mass effect, venous hypertension or hemorrhage, among others. A case is presented of a previously healthy 2-year-old boy with neurological deficit arising from pAVF of the posteroinferior cerebellar artery. The pAVF was successfully treated with(More)
INTRODUCTION Acute disseminated encephalomyelitis (ADEM) is a postinfectious encephalitis that is usually preceded by an infectious disease or vaccination. The clinical presentation has a wide spectrum and complementary exams are none specific, except magnetic resonance imaging (MRI) findings showing multifocal white-matter lesions similar to those seen en(More)
OBJECTIVE To describe and provide diagnosis guidelines for the neuromuscular pathology of the pediatric critical patients, manifested as extubation difficulty, based in our experience. CLINICAL CASES A retrospective study has been performed on three patients in the Pediatric Intensive Care Unit that were diagnosed by using clinical, analytical and(More)
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