Steffensengrant5090
To investigate the pathogenicity of 2 novel
variations, report the clinical and neuroimaging findings, and review the available literature.
Physical examinations, structural neuroimaging studies, and exome sequence analysis were performed. KDM5C constructs were used to study the effect of the variations in transfected cells.
We identified 2 novel variations c.2233C>G and c.3392_3393delAG in the
gene harboring from 2 Chinese families with X-linked intellectual disability (ID). The affected male patients exhibited severe ID, short stature, and facial dysmorphism. The 1 with c.3392_3393delAG additionally had epilepsy and autistic spectrum disorder (ASD). Transiently transfected mutant KDM5C constructs both reduced protein expression and stability and decreased histone demethylase activities in cells. Reviewing the available literature, we found that the associated ASD tended to occur in patients with variations near the C-terminus of KDM5C.
We report the clinical, molecular genetic, and pathologic features in patients with novel variations of
. The variability of the clinical phenotype in addition to an ID may associate with altered particular parts of KDM5C.
We report the clinical, molecular genetic, and pathologic features in patients with novel variations of KDM5C. The variability of the clinical phenotype in addition to an ID may associate with altered particular parts of KDM5C.
Neuro-inflammation occurs as a sequence of brain injury and is associated with production of cytokines. Cytokines can modulate the function and survival of neurons, microglia and astrocytes. The objective of this study is to examine the effect of TNF on the neurons, microglia and astrocytes in normal brain and stab wound brain injury.
Normal BALB/c male mice (N) without any injury were subdivided into NA and NB groups. Another set mouse was subjected to stab wound brain injury (I) and were subdivided into IA and IB. NA and IA groups received intraperitoneal injections of TNF (1 µg/kg body weight/day) for nine days, whereas NB and IB groups received intraperitoneal injections of PBS. Animals were killed on 1
, 2
, 3
, 7
, and 9
day. Frozen brain sections through the injury site in IA and IB or corresponding region in NA and NB groups were stained for neurodegeneration, immunostained for astrocytes, microglia and neurons. Western blotting for GFAP and ELISA for BDNF were done from the tissues collected from all groups.
The number of degenerating neurons significantly decreased in TNF treated groups. There was a significant increase in the number of astrocytes and microglia in TNF treated groups compared to PBS treated groups. In addition, it was found that TNF stimulated the expression of GFAP and BDNF in NA and IA groups.
TNF induces astrogliosis and microgliosis in normal and injured brain and promotes the survival of cortical neurons in stab wound brain injury, may be by upregulating the BDNF level.
TNF induces astrogliosis and microgliosis in normal and injured brain and promotes the survival of cortical neurons in stab wound brain injury, may be by upregulating the BDNF level.Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. Despite having been characterized over 60 years ago, however, up to now, there is no satisfactory explanation of how deficits in enzyme HGprt can lead to LND with the development of the persistent and severe self-injurious behavior. Recently, a role for epistasis between the mutated hypoxanthine phosphoribosyltransferase 1 (HPRT1) and the β-amyloid precursor protein (APP) genes affecting the regulation of alternative APP pre-mRNA splicing in LND has been demonstrated. Furthermore, there were also some reported cases of LND developing thrombosis while APP is an important regulator of vein thrombosis and controls coagulation. Otherwise, the surface expression of HGprt enzyme was also observed in several somatic tissue cancers while APP and the APP-like protein-2 (APLP2) are deregulated in cancer cells and linked toccines as well as antiviral drugs development (studying intermolecular interactions between the spike glycoprotein of the severe acute respiratory syndrome coronavirus 2, SARS-CoV-2, as well as its variants and the angiotensin-converting enzyme 2, ACE2, in coronavirus disease 2019 (COVID-19) [43],[44], for example).The growing interest in the study of morality has led to the birth of a new discipline in the field of moral philosophy called Neuroethics, a multidisciplinary approach that aims to combine philosophy and neuroscience. In this editorial, we explored the relevance of clinical models affected by neurological/psychiatric disorders to learn more about mechanisms sub-serving ethical behaviour at neural and cognitive level.To investigate the properties of a large-scale brain network, it is a common practice to reduce the dimension of resting state functional magnetic resonance imaging (rs-fMRI) data to tens to hundreds of nodes. this website This study presents an analytic streamline that incorporates modular analysis and similarity measurements (MOSI) to fulfill functional parcellation (FP) of the cortex. MOSI is carried out by iteratively dividing a module into sub-modules (via the Louvain community detection method) and unifying similar neighboring sub-modules into a new module (adjacent sub-modules with a similarity index less then 0.05) until the brain modular structures of successive runs become constant. By adjusting the gamma value, a parameter in the Louvain algorithm, MOSI may segment the cortex with different resolutions. rs-fMRI scans of 33 healthy subjects were selected from the dataset of the Rockland sample. MOSI was applied to the rs-fMRI data after standardized pre-processing steps. The results indicate that the parcellated modules by MOSI are more homogeneous in content. After reducing the grouped voxels to representative neural nodes, the network structures were explored. The resultant network components were comparable with previous reports. The validity of MOSI in achieving data reduction has been confirmed. MOSI may provide a novel starting point for further investigation of the network properties of rs-fMRI data. Potential applications of MOSI are discussed.Gamma-aminobutyric acid (GABA) acts on ventromedial hypothalamic targets to suppress counter-regulatory hormone release, thereby lowering blood glucose. Maladaptive up-regulation of GABA signaling is implicated in impaired counter-regulatory outflow during recurring insulin-induced hypoglycemia (RIIH). Ventromedial hypothalamic nucleus (VMN) GABAergic neurons express the sensitive energy gauge 5'-AMP-activated protein kinase (AMPK). Current research used high-neuroanatomical resolution single-cell microdissection tools to address the premise that GABAergic cells in the VMNvl, the primary location of 'glucose-excited' metabolic-sensory neurons in the VMN, exhibit attenuated sensor activation during RIIH. Data show that during acute hypoglycemia, VMNvl glutamate decarboxylase65/67 (GAD)-immunoreactive neurons maintain energy stability, yet a regional subset of this population exhibited decreased GAD content. GABA neurons located along the rostrocaudal length of the VMNvl acclimated to RIIH through a shift to negative energy imbalance, e.g. increased phosphoAMPK expression, alongside amplification/gain of inhibition of GAD profiles. Acquisition of negative GAD sensitivity may involve altered cellular receptivity to noradrenergic input via α2-AR and/or β1-AR. Suppression of VMNvl GABA nerve cell signaling during RIIH may differentiate this neuroanatomical population from other, possibly non-metabolic-sensory GABA neurons in the MBH. Data here also provide novel evidence that VMNvl GABA neurons are direct targets of glucocorticoid control, and show that glucocorticoid receptors may inhibit RIIH-associated GAD expression in rostral VMNvl GABAergic cells through AMPK-independent mechanisms.The relationship between physical exercise and improvement in specific cognitive domains in children and adolescents who play sport has been recently reported, although the effects on visuospatial abilities have not yet been well explored. This study is aimed at evaluating in school-age children practicing artistic gymnastics the visuospatial memory by using a table version of the Radial Arm Maze (table-RAM) and comparing their performances with those ones who do not play any sport. The visuospatial performances of 14 preadolescent girls practicing artistic gymnastics aged between 7 and 10 years and those of 14 preadolescent girls not playing any sport were evaluated in the table-RAM forced-choice paradigm that allows disentangling short-term memory from working memory abilities. Data showed that the gymnasts obtained better performances than control group mainly in the parameters evaluating working memory abilities, such as within-phase errors and spatial span. Our findings emphasizing the role of physical activity on cognitive performances impel to promote physical exercise in educational and recreational contexts as well as to analyse the impact of other sports besides gymnastics on cognitive functioning.Neurosurgeons receive extensive and lengthy training to equip themselves with various technical skills, and neurosurgery require a great deal of pre-, intra- and postoperative clinical data collection, decision making, care and recovery. The last decade has seen a significant increase in the importance of artificial intelligence (AI) in neurosurgery. AI can provide a great promise in neurosurgery by complementing neurosurgeons' skills to provide the best possible interventional and noninterventional care for patients by enhancing diagnostic and prognostic outcomes in clinical treatment and help neurosurgeons with decision making during surgical interventions to improve patient outcomes. Furthermore, AI is playing a pivotal role in the production, processing and storage of clinical and experimental data. AI usage in neurosurgery can also reduce the costs associated with surgical care and provide high-quality healthcare to a broader population. Additionally, AI and neurosurgery can build a symbiotic relationship where AI helps to push the boundaries of neurosurgery, and neurosurgery can help AI to develop better and more robust algorithms. This review explores the role of AI in interventional and noninterventional aspects of neurosurgery during pre-, intra- and postoperative care, such as diagnosis, clinical decision making, surgical operation, prognosis, data acquisition, and research within the neurosurgical arena.The functioning of our brain depends on both genes and their interactions with environmental factors. The close link between genetics and environmental factors produces structural and functional cerebral changes early on in life. Understanding the weight of environmental factors in modulating neuroplasticity phenomena and cognitive functioning is relevant for potential interventions. Among these, nutrition plays a key role. In fact, the link between gut and brain (the gut-brain axis) is very close and begins in utero, since the Central Nervous System (CNS) and the Enteric Nervous System (ENS) originate from the same germ layer during the embryogenesis. Here, we investigate the epigenetic mechanisms induced by some nutrients on the cognitive functioning, which affect the cellular and molecular processes governing our cognitive functions. Furthermore, epigenetic phenomena can be positively affected by specific healthy nutrients from diet, with the possibility of preventing or modulating cognitive impairments. Specifically, we described the effects of several nutrients on diet-dependent epigenetic processes, in particular DNA methylation and histones post-translational modifications, and their potential role as therapeutic target, to describe how some forms of cognitive decline could be prevented or modulated from the early stages of life.
