Evolution of HCV associated porphyria cutanea tarda after HCV sustained virologic response by direct acting antivirals.

Objectives: Porphyria cutanea tarda (PCT) is common and usually associated with HCV chronic infection and HFE polymorphisms. Since DAA IFN-free regimens availability, SVR for HCV is nearly a constant and we wonder whether HCV SVR determine PCT evolution.

Methods: Retrospective observational study including patients with HCV associated PCT from the Gastroenterology and Infectious Diseases Departments at our Hospital, treated with DAA (Apr/2015-Apr/2017).

Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.

Familial hypercholesterolemia is an autosomal dominant disease of lipid metabolism caused by defects in the genes LDLR, APOB, and PCSK9. The prevalence of heterozygous familial hypercholesterolemia (HeFH) is estimated between 1/200 and 1/250. Early detection of patients with FH allows initiation of treatment, thus reducing the risk of coronary heart disease.

[Stimulation of the centromedian nucleus in refractory epilepsy associated to ring chromosome 20].

Introduction: Ring chromosome 20 syndrome is a rare genetic disorder, with a late diagnosis.

Case Report: A 43-year-old woman who had had refractory epilepsy since the age of six years, for which she was treated with deep brain stimulation of the centromedian nucleus, and also a ring chromosome 20.

Conclusions: From the findings of the study it can be concluded that deep brain stimulation of the centromedian nucleus is ineffective in patients with ring chromosome, but note must be taken of the importance of genetic characterisation for the management of refractory epilepsy.

[Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH].

Introduction: The cri du chat syndrome (CDCS) come from a partial or total deletion of the short arm of chromosome 5, being one of the most common deletion syndromes in human beings. The great majority of patients are diagnosed between the first month and first year of life, but herein we report a finding of a CDCS in a woman with a suspect of spinocerebellar ataxia, and a family medical record of ataxia and bipolar disorder. We pay special attention to the clinical features as well as the diagnostics tests, used to identify the CDCS.

[Electroclinical characteristics of a patient with ring chromosome 20 syndrome].

Introduction: The ring chromosome 20 syndrome (r20) is a rare genetic disorder with a late diagnosis.

Case Report: A 17 year old boy with drug-resistant epilepsy of 14 years of evolution, which has moderate mental retardation, behavioral alterations and seizures consisting of complex non-convulsive status and generalized seizures during wakefulness, along with more subtle epileptic manifestations during sleep. Karyotype in peripheral blood showed the existence of a ring chromosome 20, whose breakpoints were p13q13.

[Family history of epilepsy resistant to treatment].

Introduction: Family aggregation can help determine the risk of epilepsy among relatives. Our aims are to describe the prevalence of family precedents of epilepsy among the diagnosed patients' relatives of the first and second degree, and to look for an association with diverse clinical variables.

Patients And Methods: Market descriptive prospective study in a transverse cohort of a Spanish population.

[Significance of complex analysis of electrical activity in temporal lobe epilepsy: foramen ovale electrodes records].

Introduction: Temporal lobe epilepsy (TLE) is commonly associated with the process of synchronisation during the interictal stage, which show up as 'spikes' on neurophysiological recordings, and also with hypersynchronic activity during clinical seizures. Nevertheless, desynchronisation also seems to play an important role in the epileptogenic process, favouring the onset of seizures.

Aims: The aim of this work is to show how the latest complex network analysis techniques applied to the recordings from the foramen ovale electrodes provide valuable new information about the dynamics of mesial activity in TLE.

[Differential contribution of preoperatory studies to diagnosis in temporal lobe epilepsy surgery].

Introduction: It is necessary to know the degree of concordance of preoperative studies in temporal lobe epilepsy (TLE). AIM. To analyze the relative importance of different preoperative tests (vEEG, EEG, SPECT and MRI), the degree of agreement between them, and to develop a Bayesian probability model for diagnosis.