Search results for " Neurosurgery"

Piriform cortex alterations in the Ts65Dn model for down syndrome

2020

The piriform cortex is involved in olfactory information processing, that is altered in Down Syndrome. Moreover, piriform cortex has a crucial involvement in epilepsy generation and is one of the first regions affected in Alzheimer's Disease, both maladies being prevalent among Down Syndrome individuals. In this work, we studied the alterations in neuronal morphology, synaptology and structural plasticity in the piriform cortex of the Ts65Dn mouse model, which is the most used model for the study of this syndrome and mimics some of their alterations. We have observed that Ts65Dn piriform cortex displays: a reduction in dendritic arborisation, a higher density of inhibitory synapses (GAD67),…

Oligodendrocytes Support Neuronal Glutamatergic Transmission via Expression of Glutamine Synthetase.

2019

Summary: Glutamate has been implicated in a wide range of brain pathologies and is thought to be metabolized via the astrocyte-specific enzyme glutamine synthetase (GS). We show here that oligodendrocytes, the myelinating glia of the central nervous system, also express high levels of GS in caudal regions like the midbrain and the spinal cord. Selective removal of oligodendrocyte GS in mice led to reduced brain glutamate and glutamine levels and impaired glutamatergic synaptic transmission without disrupting myelination. Furthermore, animals lacking oligodendrocyte GS displayed deficits in cocaine-induced locomotor sensitization, a behavior that is dependent on glutamatergic signaling in th…

ABO blood group A transferase and its codon 69 substitution enzymes synthesize FORS1 antigen of FORS blood group system

2019

AbstractHuman histo-blood group A transferase (AT) catalyzes the biosynthesis of oligosaccharide A antigen important in blood transfusion and cell/tissue/organ transplantation. This enzyme may synthesize Forssman antigen (FORS1) of the FORS blood group system when exon 3 or 4 of the AT mRNA is deleted and/or the LeuGlyGly tripeptide at codons 266–268 of AT is replaced by GlyGlyAla. The Met69Ser/Thr substitutions also confer weak Forssman glycolipid synthase (FS) activity. In this study, we prepared the human AT derivative constructs containing any of the 20 amino acids at codon 69 with and without the GlyGlyAla substitution, transfected DNA to newly generated COS1(B3GALNT1 + A4GALT) cells e…

Structures of collagen IV globular domains: insight into associated pathologies, folding and network assembly

2018

15 páginas, 6 figuras, 1 tabla.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

2017

Disclaimer: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests…

Estudio de los mecanismos fisiopatológicos asociados al inicio y curso de los trastornos del neurodesarrollo en prematuros (estudio PeriSTRESS-PremTE…

2021

Resumen Introduccion Los factores genetico-ambientales y las vias fisiopatologicas que condicionan la evolucion de forma diferencial a un trastorno de neurodesarrollo (TN) en la poblacion de grandes prematuros (GP) y prematuros extremos (PE) siguen siendo en gran medida desconocidos. Tampoco disponemos a fecha de hoy de marcadores biologicos potencialmente predictivos de TN en estos ninos. El proyecto PeriSTRESS-PremTEA tiene como objetivo estudiar de forma prospectiva, en GP/PE: (i) la aparicion/curso de rasgos y diagnostico TN hasta los 6 anos de vida, (ii) factores de riesgo de aparicion de TN desde la etapa prenatal hasta los 6 anos, (ii) perfiles de biomarcadores en orina predictivos d…

Modulation astrogliale de la stimulation cérébrale profonde dans la dépression

2016

Neuropädiatrische Differenzialdiagnostik der Mikrozephalie im Kindesalter

2016

ZusammenfassungEine Mikrozephalie betrifft 2–3 % der Bevölkerung und geht oftmals mit einer Intelligenzminderung einher. Die zugrunde liegende Reduktion des Gehirnvolumens kann sowohl durch exogene Faktoren als auch durch genetische Ursachen bedingt sein. Problematisch sind sowohl die uneinheitliche Klassifikation als auch die große Heterogenität der hinter dem klinischen Zeichen Mikrozephalie stehenden Erkrankungen. Im vorliegenden Artikel stellen wir unseren Vorschlag für die diagnostische Herangehensweise an ein Kind mit Mikrozephalie aus neuropädiatrischer Sicht vor.

First Report on the Latvian SARS-CoV-2 Isolate Genetic Diversity

2021

Remaining a major healthcare concern with nearly 29 million confirmed cases worldwide at the time of writing, novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has caused more than 920 thousand deaths since its outbreak in China, December 2019. First case of a person testing positive for SARS-CoV-2 infection within the territory of the Republic of Latvia was registered on 2nd of March 2020, 9 days prior to the pandemic declaration by WHO. Since then, more than 277,000 tests were carried out confirming a total of 1,464 cases of coronavirus disease 2019 (COVID-19) in the country as of 12th of September 2020. Rapidly reacting to the spread of the infection, an ongoing sequenci…

Role of nitric oxide pathway in the conditioned rewarding effects of MDMA in mice.

2017

It is estimated that 2.1 million young adults used MDMA/Ecstasy in the last year in Europe. Vulnerable subjects can develop dependence after MDMA abuse but currently there does not exist an effective treatment for this disorder. The nitric oxide (NO) pathway seems to have an important role on the rewarding effects of different drugs and has been proposed as a new pharmacological treatment for psychostimulant addiction. In the present study, we intend to evaluate whether the blockade of the NO synthesis (NOS) interferes with the rewarding effects of MDMA in the conditioned preference place (CPP) paradigm in young adult male mice. Our results indicated that mice treated with 7-nitroindazole (…