Initial clinical evidence on biperiden as antiepileptogenic after traumatic brain injury-a randomized clinical trial.

There is currently no efficacious intervention for preventing post-traumatic epilepsy (PTE). Preclinical studies support the potential use of anticholinergics for this condition. The purpose of this study was to evaluate the effects of biperiden as an intervention for preventing PTE.

Biperiden for prevention of post-traumatic epilepsy: A protocol of a double-blinded placebo-controlled randomized clinical trial (BIPERIDEN trial).

Background: Traumatic brain injury (TBI) is one of the most important causes of acquired structural epilepsy, post-traumatic epilepsy (PTE), however, efficient preventative measures and treatment are still not available to patients. Preclinical studies indicated biperiden, an anticholinergic drug, as a potential drug to modify the epileptogenic process. The main objective of this clinical trial is to evaluate the efficacy of biperiden as an antiepileptogenic agent in patients that suffered TBI.

A qualitative study on factors associated with intimate partner violence in Colombia.

Intimate partner violence (IPV) is a human rights violation and a serious global public health problem. This study investigated factors associated with IPV in female survivors in Colombia. Four focus group discussions with female survivors of IPV and 15 key informant interviews with professionals from psychological, social and legal services and community leaders were conducted in Cali and Tuluá.

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

Objective: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant.

Methods: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020).

Two decades of research towards a potential first anti-epileptic drug.

The basic mechanisms by which brain insults, such as trauma, stroke or status epilepticus produce epilepsy are not completely understood, and effective preventive measures and treatment are still not available in the clinical setting. Over the last 2 decades we have conducted several studies with animal models of epilepsy (rodents and non-human primates) and demonstrated that drugs that modify neuronal plastic processes, such as anticholinergic agents (e.g.

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.

Introduction: KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy.

Case Report: We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene.

Discussion: Whole exome sequencing identified the missense variant c.

ATP6V1B2-related epileptic encephalopathy.

ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), a multiple malformation syndrome without cognitive involvement. Epilepsy is not observed in DDOD, is variably present in ZLS2, but is a common feature in Zimmermann-Laband syndrome 1 (ZLS1) (caused by monoallelic pathogenic variants in KCNH1) and Zimmermann-Laband syndrome-like (ZLSL) (associated with KCNK4 variants).

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.

SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal.

Non-REM Sleep Instability in Children With Primary Monosymptomatic Sleep Enuresis.

Study Objectives: Sleep enuresis is one of the most common sleep disturbances in childhood. Parental perception of deeper sleep in children with sleep enuresis is not confirmed by objective studies. However, evidence of disturbed sleep has been demonstrated by questionnaire, actigraphy, and polysomnographic studies, but no neurophysiological correlation with low arousability has been found.

Serial and prolonged EEG monitoring in anti-N-Methyl-d-Aspartate receptor encephalitis.

Objective: To describe serial electroencephalographic (EEG) findings of three patients with anti-NMDAR encephalitis.

Methods: Three women (age 15-34years) with confirmed anti-NMDAR encephalitis underwent serial EEG recordings. Continuous EEG for 72h was performed in one case and 3-day video-EEG monitoring was obtained in two cases.

Stimulus-induced rhythmic, periodic, or ictal discharges (SIRPIDs): an intriguing EEG phenomenon.

SIRPIDs, an acronym for stimulus-induced rhythmic, periodic, or ictal discharges, were first named in 2004. This is a pattern observed in continuous electroencephalogram (CEEG) consistently elicited by stimulation in comatose patients. The pathophysiology of SIRPIDs probably involves dysregulation of subcortico-cortical projections, particularly thalamocortical circuit, in a markedly abnormal brain with hyperexci-table cortex.

Higher mortality rate is associated with advanced age and periodic lateralized epileptiform discharges in patients with refractory status epilepticus.

Objective: To evaluate clinical data, electroencephalogram, etiology, classification, treatment, morbidity, and mortality in acute refractory status epilepticus.

Methods: Fifteen patients, mean age of 41.3 years-old, six males, with refractory status epilepticus, were retrospectively studied.

Morphological variations of hippocampal formation in epilepsy: image, clinical and electrophysiological data.

Morphological variations of hippocampal formation (MVHF) are observed in patients with epilepsy but also in asymptomatic individuals. The precise role of these findings in epilepsy is not yet fully understood. This study analyzes the hippocampal formation (HF) morphology of asymptomatic individuals (n = 30) and of patients with mesial temporal lobe epilepsy associated with hippocampal sclerosis (MTLE-HS) (n = 68), patients with malformations of cortical development (MCD) (n = 34), or patients with pure morphological variations of hippocampal formation (pure MVHF) (n = 12).

Refractory nonconvulsive status epilepticus in coma: analysis of the evolution of ictal patterns.

Objective: Nonconvulsive status epilepticus (NCSE) is currently considered as one of the most frequent types of status epilepticus (SE). The objective of the present study was to identify the natural history of the electrographical evolution of refractory NCSE and to establish the relationship between ictal patterns and prognosis.

Methods: We analyzed, retrospectively, 14 patients with loss of consciousness and NCSE.

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified.

[Interaction of rotavirus with protein disulfide isomerase in vitro and cell system].

Introduction: Rotavirus entry process involves a multi-step mechanism, the first of which is when the outermost viral proteins interact with four different integrins and Hsc70. Recently, rotavirus infection reportedly has been decreased after blocking cell surface protein disulfide isomerase (PDI). This suggested that this protein interacts with rotavirus during the entry process.

Paradoxical ictal EEG lateralization in children with unilateral encephaloclastic lesions.

Background: Describe an ictal EEG pattern of paradoxical lateralization in children with unilateral encephaloclastic hemispheric lesion acquired early in life.

Methods: Of 68 children who underwent hemispherectomy during 2003-2005, scalp video-EEG and brain MRI of six children with an ictal scalp EEG pattern discordant to the clinical and imaging data were reanalyzed. Medical charts were reviewed for clinical findings and seizure outcome.

Benign neonatal sleep myoclonus.

Benign neonatal sleep myoclonus is a non-epileptic disorder. This phenomenon of the first weeks of life is characterized by erratic myoclonic jerks occurring only during sleep and with no electroencephalographic changes. It is not associated with perinatal complications, disappears spontaneously within two to four months, and it does not compromise future development.

[Characterization of two typhoid fever outbreaks in Apartadó, Antioquia, 2005].

Introduction: The characterization of typhoid fever outbreaks is important because it is necessary to find the source of the infection and development control measures.

Objective: A typhoid fever outbreak is described from Apartadó and the Salmonella Typhi isolates characterized by phenotypic and genotypic methods.

Materials And Methods: From 44 patients, 15 blood cultures and 7 stools cultures were recovered.