PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

We have generated using CRISPR/Cas9 technology a partially humanized mouse model of the neurometabolic disease phenylketonuria (PKU), carrying the highly prevalent PAH variant c.1066-11G>A. This variant creates an alternative 3' splice site, leading to the inclusion of 9 nucleotides coding for 3 extra amino acids between Q355 and Y356 of the protein.

Bioactive and flavor compounds in cocoa liquor and their traceability over the major steps of cocoa post-harvesting processes.

The production of fine-flavor cocoa represents a promising avenue to enhance socioeconomic development in Colombia and Latin America. Premium chocolate is obtained through a post-harvesting process, which relies on semi-standardized techniques. The change in the metabolic profile during cocoa processing considerably impacts flavor and nutraceutical properties of the final product.

Lipidomic profiling of bioactive lipids during spontaneous fermentations of fine-flavor cocoa.

The impact of cocoa lipid content on chocolate quality has been extensively described. Nevertheless, few studies have elucidated the cocoa lipid composition and their bioactive properties, focusing only on specific lipids. In the present study the lipidome of fine-flavor cocoa fermentation was analyzed using LC-MS-QTOF and a Machine Learning model to assess potential bioactivity was developed.

Antisaccades and memory-guided saccades in genetic generalized epilepsy and temporal lobe epilepsy.

Objective: Oculomotor tasks can be used to measure volitional control of behavior sensitive to frontal dysfunction. This study aimed to examine the saccadic eye movement in Genetic Generalized Epilepsy (GGE) which could correlate with the abnormality of the frontal lobe or the thalamo-frontal network.

Methods: Twenty-one patients with GGE were compared with 22 patients with Temporal Lobe Epilepsy (TLE) and 39 healthy controls.

Dissecting industrial fermentations of fine flavour cocoa through metagenomic analysis.

The global demand for fine-flavour cocoa has increased worldwide during the last years. Fine-flavour cocoa offers exceptional quality and unique fruity and floral flavour attributes of high demand by the world's elite chocolatiers. Several studies have highlighted the relevance of cocoa fermentation to produce such attributes.

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Background: Mitochondrial progressive external ophthalmoplegia (PEO) encompasses a broad spectrum of clinical and genetic disorders. We describe the phenotypic subtypes of PEO and its correlation with molecular defects and propose a diagnostic algorithm.

Methods: Retrospective analysis of the clinical, pathological and genetic features of 89 cases.

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

Background: Bethlem myopathy represents the milder phenotype of collagen type VI-related myopathies. However, clinical manifestations are highly variable among patients and no phenotype-genotype correlation has been described. We aim to analyse the clinical, pathological and genetic features of a series of patients with Bethlem myopathy, and we describe seven new mutations.

A new MR radiological sign in HaNDL syndrome. A case report.

Background: One of the classical diagnostic criteria of the syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome) is the normality of imaging studies except from some reversible alterations as leptomeningeal enhancement or focal hypoperfusion.

Case: We present a 41 year-old man who abruptly started with a set of right parietal symptoms, meeting the diagnostic criteria for HaNDL syndrome. An electroencephalographic record showed a slowing of the right hemisphere.

Prognosis of Tandem Occlusions versus Isolated Intracranial Occlusions.

Background: Both acute single intracranial and tandem occlusions are managed with intravascular thrombectomy with success, but little evidence exists about the differences in their mid-term outcome. We aim to compare the outcome at 3 months after tandem (extracranial internal carotid and/or middle cerebral artery) and single intracranial (M1 division) occlusions, and to identify the factors, which determine such prognosis.

Methods: A total of 66 patients (33 with tandem and 33 with singleM1 occlusions) who underwent emergent intravascular therapy in our center between November of 2013 and November of 2016 were collected.

Pure alexia: two cases and a new neuroanatomical classification.

Pure alexia without visual or language accompanying deficits (isolated pure alexia), represents an infrequent finding in clinical practice. It has been linked to lesions involving the splenium of the callosal corpus in classical descriptions; however, it has also been reported after occipito-temporal cortex damage in the absence of white matter implication. In this regard, a functional region called the visual word form area has been recently related to the posterior aspect of the occipitotemporal gyrus.

Hypophonia as a sign of thalamus lesion: a case report.

Hypophonia is a neurological sign usually seen after brainstem or peripheral damage, either at the recurrent laryngeal nerve or vocal cord level. However, it has been described as a sign of supratentorial strokes in a few studies, specifically when anterior and ventral thalamic involvement is reported. In addition, it is a prominent sign of other neurological disorders such as Parkinson disease and other extrapyramidal conditions.

The Mesoaccumbens Pathway: A Retrograde Labeling and Single-Cell Axon Tracing Analysis in the Mouse.

Neurons in the ventral tegmental area (VTA) that innervate the nucleus accumbens (Acb) constitute the so-called mesoaccumbens system. Increased activity by these neurons is correlated with the expectation and achievement of reward. The mesoaccumbens projection neurons are regarded as a central node in the brain networks that regulate drive and hedonic experience, and their dysregulation is a common pathophysiological step in addictive behaviors as well as major depression.

Long-range projection neurons of the mouse ventral tegmental area: a single-cell axon tracing analysis.

Pathways arising from the ventral tegmental area (VTA) release dopamine and other neurotransmitters during the expectation and achievement of reward, and are regarded as central links of the brain networks that create drive, pleasure, and addiction. While the global pattern of VTA projections is well-known, the actual axonal wiring of individual VTA neurons had never been investigated. Here, we labeled and analyzed the axons of 30 VTA single neurons by means of single-cell transfection with the Sindbis-pal-eGFP vector in mice.

Earlobe crease shapes and cardiovascular events.

Earlobe crease (ELC) has been linked to coronary artery disease; however, systematic evaluations of the earlobe and its relation to ischemic stroke are lacking. The objectives were to define the ELC using a single-blind approach and to determine through multivariate analysis its association with cardiovascular events (CVEs) comprising coronary, ischemic cerebrovascular, and peripheral vascular diseases. A single-blind cross-sectional study was performed in 2 phases: (1) an initial study (n = 300) to define ELC classification criteria and (2) a confirmation stage (n = 1,000) to analyze ELC association with CVEs.