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OBJECTIVE To describe the clinical characteristics and the visual prognosis of a group of children affected with optic neuritis. PATIENTS AND METHODS The clinical charts of patients under 15 years of age with clinical criteria of optic neuritis were revised at the Hospital Universitario San Vicente de Pa l (Medell n, Colombia), in a time span from January(More)
Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity. Here we report the molecular characterization of a large pedigree with a severe clinical form of GEFS+. Genetic linkage analysis implied the involvement of the FEB3 in the disease phenotype of this family (parametric(More)
INTRODUCTION Schizencephaly is the most frequent neuronal migration disorder. It is classified according to the type of lip (closed or open). Clinical features vary from the asymptomatic patient to severe neurological compromise. AIM To describe the clinical characteristics of children who have been diagnosed with schizencephaly and their correlation with(More)
INTRODUCTION Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioural disorder among schoolchildren. It may persist into adulthood and affect performance in the academic, social, occupational and familial spheres, and increase the use and abuse of alcohol and psychoactive substances and the risk of having an accident. Its(More)
Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this(More)
INTRODUCTION The human immunodeficiency virus type 1 (HIV-1) has tropism for the immune and central nervous systems (CNS). Intrauterine exposure to HIV-1 induces immunological alterations, independent of infection that might affect the development of the CNS. Similarly, the intrauterine exposure to antiretrovirals might also affect the neurodevelopment. (More)
Lipoprotein lipase (LPL) is a glycoprotein that plays a central role in plasma triglyceride metabolism by hydrolyzing triglyceride-rich chylomicrons and very low density lipoproteins. The activity of milk LPL has been shown to differ among several goat breeds, suggesting the existence of a genetic polymorphism influencing the functional properties of this(More)
Patients with autoimmune diseases (ADs) are a challenge for the intensivist; it is hard to differentiate among infection, disease activity, and combinations of both, leading to high mortality. This study is a retrospective analysis of 124 critically ill patients admitted to the intensive care unit (ICU) in a university hospital between 2008 and 2016.(More)
Malic enzyme 1 plays a fundamental role in lipid metabolism because it yields a significant amount of the NADPH necessary for fatty acid biosynthesis. In ruminants, however, its contribution to this biochemical process seems to be less relevant than in other livestock species. In this study, we have partially sequenced the goat ME1 gene with the aim of(More)
INTRODUCTION Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by phonic and motor tics. Although its physiopathologic bases are unknown, the cortical-striatal-thalamic-cortical circuit has been studied. The association of GTS with attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD),(More)