rudyvdbrink/CitationDatabase huggingface dataset:
[Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report].
Annales de biologie clinique, 2020

Menkes disease is an X-linked recessive disorder affecting copper metabolism due to an inactivating mutation of ATP7A gene. This result in loss of copper intestinal absorption, tissue deficiency and failure in multiple essential copper-enzyme systems such as the cytochrome c oxidase. Symptoms usually occur during the first months of life with neurological signs such as epilepsy associated to other signs among them typical hair appearance. We report the case of a 3 month-old infant hospitalized due to partial tonic-clonic seizures. Laboratory findings showed increased of lactates in blood and in cerebrospinal fluid. First screenings for infectious, metabolic and genetic causes were negative. After recurrence of multifocal seizures further investigations are made according to the presence of thick and tortuous hair. Low levels of ceruloplasmin and copper in plasma are in agreement with the suspected diagnosis of Menkes disease. Molecular analysis of the ATP7A gene confirmed the diagnosis with a non-sens mutation.
Early-life adversity selectively interrupts the dendritic differentiation of dorsolateral striatal neurons in male mice.
Brain structure & function, 2021

The effects of early-life adversity (ELA) on dendritic differentiation of striatal neurons were investigated in the dorsal striatum including the dorsomedial striatum and dorsolateral striatum (DMS and DLS, respectively). An animal model of ELA was created by changing the growth environment of newborn mouse pups by giving limited bedding and nesting materials from postnatal day 2 to day 9 (P2-P9). One week after the stress paradigm (P16), the dendritic branches and spines of striatal spiny neurons as well as the synapses represented by postsynaptic density protein-95 (PSD-95) in DMS and DLS were stereologically analyzed. Adverse experience in early life selectively affected the spiny neurons in DLS, leading to abundant proximal dendritic branches and an increased number of filopodia-like protrusions, but a reduced number of dendritic spines. The selective effects of stress on neurons in DLS were further identified by reduced expression of PSD-95, including a reduced optical density of PSD-95 immunoreactivity and fewer individual PSD-95 immunoreactive synapses in this region. Notably, stress in early life affected either D1 or D2 dopamine receptor-expressing DLS neurons. These findings suggest that adverse early-life experience delayed the maturation of dendritic spines on neurons in the dorsolateral striatum. Altered dendritic differentiation provoked by stress in early life may contribute critically to the formation of proper neuronal circuits in the dorsal striatum and, therefore, affect striatum-dependent habitual behavior and emotional function later in life.
Moderate prenatal alcohol exposure alters the number and function of GABAergic interneurons in the murine orbitofrontal cortex.
Alcohol (Fayetteville, N.Y.), 2020

Exposure to alcohol during development produces Fetal Alcohol Spectrum Disorders (FASD), characterized by a wide range of effects that include deficits in multiple cognitive domains. Early identification and treatment of individuals with FASD remain a challenge because neurobehavioral alterations do not become a significant problem until late childhood and early adolescence. Understanding the mechanisms underlying low and moderate prenatal alcohol exposure (PAE) effects on behavior and cognition is essential for improved diagnosis and treatment. Here, we examined the functional and morphological changes in an area known to be involved in executive control, the orbitofrontal cortex (OFC). We found that a moderate PAE model, previously shown to impair behavioral flexibility and to alter OFC activity in vivo, produced moderate functional and morphological changes within the OFC of mice in vitro. Specifically, slice electrophysiological recordings of spontaneous inhibitory post-synaptic currents in OFC pyramidal neurons revealed a significant increase in the amplitude and area in PAE mice relative to controls. Immunohistochemistry uncovered an increase in calretinin-, but not somatostatin- or parvalbumin-expressing cortical interneurons in the OFC of PAE mice. Together, these data suggest that moderate prenatal alcohol exposure alters the disinhibitory function in the OFC, which may contribute to the executive function deficits associated with FASD.
Orexin-1 receptor signaling within the lateral hypothalamus, but not bed nucleus of the stria terminalis, mediates context-induced relapse to alcohol seeking.
Journal of psychopharmacology (Oxford, England), 2020

The lateral hypothalamic orexin (hypocretin) system has a well-established role in the motivation for reward. This has particular relevance to substance use disorders since orexin-1 receptors play a critical role in alcohol-seeking behavior, acting at multiple nodes in relapse-associated networks.
Epigenetics of neuroinflammation: Immune response, inflammatory response and cholinergic synaptic involvement evidenced by genome-wide DNA methylation analysis of delirious inpatients.
Journal of psychiatric research, 2020

Previously our study has shown that the DNA methylation (DNAm) levels at CpG sites in the pro-inflammatory cytokine gene, TNF-alpha, decrease along with aging, suggesting the potential role of DNAm in aging and heightened inflammatory process leading to increased risk for delirium. However, DNAm differences between delirium cases and non-delirium controls have not been investigated directly. Therefore, we examined genome-wide DNAm differences in blood between patients with delirium and controls to identify useful epigenetic biomarkers for delirium. Data from a total of 87 subjects (43 delirium cases) were analyzed by a genome-wide DNAm case-control association study. A genome-wide significant CpG site near the gene of LDLRAD4 was identified (p = 5.07E-8). In addition, over-representation analysis showed several significant pathways with a false discovery rate adjusted p-value < 0.05. The top pathway with a Gene Ontology term was immune response, and the second top pathway with a Kyoto Encyclopedia of Genes and Genomes term was cholinergic synapse. Significant DNAm differences related to immune/inflammatory response were shown both at gene and pathway levels between patients with delirium and non-delirium controls. This finding indicates that DNAm status in blood has the potential to be used as epigenetic biomarkers for delirium.
Photoaffinity-engineered protein scaffold for systematically exploring native phosphotyrosine signaling complexes in tumor samples.
Proceedings of the National Academy of Sciences of the United States of America, 2018

Phosphotyrosine (pTyr)-regulated protein complexes play critical roles in cancer signaling. The systematic characterization of these protein complexes in tumor samples remains a challenge due to their limited access and the transient nature of pTyr-mediated interactions. We developed a hybrid chemical proteomics approach, termed Photo-pTyr-scaffold, by engineering Src homology 2 (SH2) domains, which specifically bind pTyr proteins, with both trifunctional chemical probes and genetic mutations to overcome these challenges. Dynamic SH2 domain-scaffolding protein complexes were efficiently cross-linked under mild UV light, captured by biotin tag, and identified by mass spectrometry. This approach was successfully used to profile native pTyr protein complexes from breast cancer tissue samples on a proteome scale with high selectivity, achieving about 100 times higher sensitivity for detecting pTyr signaling proteins than that afforded by traditional immunohistochemical methods. Among more than 1,000 identified pTyr proteins, receptor tyrosine kinase PDGFRB expressed on cancer-associated fibroblasts was validated as an important intercellular signaling regulator with poor expression correlation to ERBB2, and blockade of PDGFRB signaling could efficiently suppress tumor growth. The Photo-pTyr-scaffold approach may become a generic tool for readily profiling dynamic pTyr signaling complexes in clinically relevant samples.
Failure to Improve Verbal Fluency with Transcranial Direct Current Stimulation.
Neuroscience, 2020

Previous studies in healthy populations have provided equivocal evidence whether the application of anodal transcranial direct current stimulation (tDCS) over the left prefrontal cortex (PFC) can improve performance in verbal fluency tasks. In this double-blind, randomised within-participant study, we investigated whether anodal tDCS over the left PFC improves verbal fluency performance relative to sham tDCS. Forty eight healthy native German speakers performed two verbal fluency tasks after having received 20 min of anodal or sham tDCS over the left PFC. During stimulation, participants performed a picture naming task, which was expected to increase neuronal activity in the targeted region. We found no modulation of verbal fluency performance following anodal tDCS, with virtually identical overall scores across tDCS conditions. Furthermore, initiation time (i.e., time to produce the first correct utterance) was not affected by tDCS. As an unexpected finding, picture naming latencies were significantly longer during anodal compared to sham tDCS. Yet, changes in the naming task were not predictive of performance changes in the fluency task. Overall, the current study found no evidence that verbal fluency performance in healthy speakers could be improved by excitatory stimulation of the left PFC. We argue that previously observed positive effects could be false positives and should be interpreted with caution. The findings from the current study thus cast further doubt on the utility of tDCS in enhancing cognitive performance in the healthy (young) brain.
State of the union between cognitive neuroscience and emotion.
Expert review of neurotherapeutics, 2008

The 15th Annual Meeting of the Cognitive Neuroscience Society brought together researchers and exhibitors to discuss and present data relevant to the study of the mind using neuroscience methods, especially neuroimaging. A history of interdisciplinary communication, which was the basis of the creation of this society, continues to expand the scope of work presented at the meeting to include research on emotional and social processes as well as various forms of psychopathology. Neurotherapeutics and individual differences in treatment responsivity may be on the horizon.
An emotional-response model of bipolar disorders integrating recent findings on amygdala circuits.
Neuroscience and biobehavioral reviews, 2020

Because of our classification system limitations for defining psychiatric disorders and understanding their physiopathology, a new research area based on dimensions has emerged. It consists of exploring domains derived from fundamental behavioral components linked to neurobiological systems. Emotional processing is among the most affected dimensions in bipolar disorders (BD), but is excluded from the definition criteria. The purpose of this review is to synthesize the emotional responses disruption during the different phases of BD, using intensity and valence as the two key characteristics of emotions. We integrate those emotional disruptions into an original, emotion-based model contrasting with the current diagnostic frame built on mood. Emotional processing is underpinned by cortico-limbic circuits involving the amygdala. Recent publications showed the crucial role of the amygdala in emotional processes triggered by stimuli of negative, but also positive valence. We show how these neuroscience data can provide physiological basis for emotional disturbances observed in BD. We conclude with translational perspectives to improve the current knowledge about neural substrates underlying altered emotional responses characterizing BD.
[Biomarkers for Mood Disorders and a Novel Antidepressant (R)-ketamine].
Brain and nerve = Shinkei kenkyu no shinpo, 2017

Depression is often misdiagnosed as major depressive disorder in patients with bipolar disorder. Therapeutic drugs for these two disorders are quite different, but the anesthetic ketamine shows fast-acting antidepressant effects in treatment-resistant patients with these disorders. Here, we discuss biomarkers for both disorders, recent findings regarding ketamine, and predictable biomarkers for ketamine's antidepressant actions.
EBV-specific CD8 T lymphocytes and B cells during glatiramer acetate therapy in patients with MS.
Neurology(R) neuroimmunology & neuroinflammation, 2020

Infection with Epstein-Barr virus (EBV) has been associated with clinical activity and risk of developing MS. The purpose of this study is to investigate the impact of glatiramer acetate (GA) therapy on EBV-specific immune responses and disease course.
Vertebral fragility fractures: clinical and radiological results of augmentation and fixation-a systematic review of randomized controlled clinical trials.
Aging clinical and experimental research, 2020

To assess the outcome of augmentation techniques, i.e., percutaneous vertebroplasty (PVP), balloon kyphoplasty (BKP), vertebral body stenting (VBS) and fixation techniques in the management of vertebral fragility fractures (VFFs).
Fbxo7 and Pink1 play a reciprocal role in regulating their protein levels.
Aging, 2020

Pink1, Parkin and Fbxo7, three autosomal recessive familial genes of Parkinson's disease (PD), have been implicated in mitophagy pathways for quality control and clearance of damaged mitochondria, but the interplay of these three genes still remains unclear. Here we present that Fbxo7 and Pink1 play a reciprocal role in the regulation of their protein levels. Regardless of the genotypes of Fbxo7, the wild type and the PD familial mutants of Fbxo7 stabilize the processed form of Pink1, supporting the prior study that none of the PD familial mutations in Fbxo7 have an effect on the interaction with Pink1. On the other hand, the interaction of Fbxo7 with Bag2 further facilitates its capability to stabilize Pink1. Intriguingly, the stabilization of Fbxo7 by Pink1 is specifically observed in substantial nigra pars compacta but striatum and cerebral cortex. Taken together, our findings support the notion that Fbxo7 as a scaffold protein has a chaperon activity in the stabilization of proteins.
Electronic teaching files and continuing professional development in radiology.
Biomedical imaging and intervention journal, 2006

Education in diagnostic radiology employs medical images extensively, and case-based teaching files of actual patients are useful to illustrate pertinent teaching points. In the era of digital radiology, there is great potential to use the ready source of patient material from Picture Archive and Communication Systems (PACS) and initiatives such as Medical Imaging Resource Center (MIRC) on the World Wide Web for teaching and for Continuing Professional Development (CPD). As mandatory CPD becomes the reality in medical practice, computerised solutions that support the creation of electronic teaching files in the midst of busy clinical workflow would be very valuable. This paper will explore the features of image-based CPD, the various ways in which medical images can be used for self directed learning and the challenges that face the radiology profession.
Polygenic Risk Scores Augment Stroke Subtyping.
Neurology. Genetics, 2021

To determine whether the polygenic risk score (PRS) derived from MEGASTROKE is associated with ischemic stroke (IS) and its subtypes in an independent tertiary health care system and to identify the PRS derived from gene sets of known biological pathways associated with IS.
Stroke in acute type A aortic dissection: the Nordic Consortium for Acute Type A Aortic Dissection (NORCAAD).
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery, 2020

Stroke is a serious complication in patients with acute type A aortic dissection (ATAAD). Previous studies investigating stroke in ATAAD patients have been limited by small cohorts and have shown diverging results. We sought to identify risk factors for stroke and to evaluate the effect of stroke on outcomes in surgical ATAAD patients.
A Cinematic View of Tissue Microbiology in the Live Infected Host.
Microbiology spectrum, 2019

Tissue microbiology allows for the study of bacterial infection in the most clinically relevant microenvironment, the living host. Advancements in techniques and technology have facilitated the development of novel ways of studying infection. Many of these advancements have come from outside the field of microbiology. In this article, we outline the progression from bacteriology through cellular microbiology to tissue microbiology, highlighting seminal studies along the way. We outline the enormous potential but also some of the challenges of the tissue microbiology approach. We focus on the role of emerging technologies in the continual development of infectious disease research and highlight future possibilities in our ongoing quest to understand host-pathogen interaction.
Twelve-year monitoring of a patient with megalencephalic leukoencephalopathy with subcortical cysts.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts is an infantile-onset inherited disease of the brain white matter with a defect in brain ion and water homoeostasis, which leads to an abnormal brain volume regulation. Clinical features of the disease can be variable, but patients typically show early-onset macrocephaly, motor abnormalities, seizures, and almost constant late-onset mild mental deterioration. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. We describe here clinical findings and volumetric MRI and (1)H-MR spectroscopic imaging ((1)H-MRSI) data of a 12-year follow-up on a patient with MLC. The patient had only slight clinical worsening during the long follow-up. Volumetric findings showed substantially unchanged cystic volumes and mild brain atrophy rate. In addition, there was no over time increase in the volume of white matter hypointense lesions seen on FLAIR images at baseline, but the degree of hypointensity of these white matter voxels increased over 12 years. Longitudinal (1)H-MRSI examination showed long-term undetectable metabolite signals in the white matter, whereas the metabolic pattern of gray matter voxels remained unchanged over time. Results show that, in MLC, the chronic brain white matter changes resulting from the brain ion, and water homeostasis can be monitored by quantitative MRI modalities. This might be important for assessing treatment effects.
Insulin sensing by astrocytes is critical for normal thermogenesis and body temperature regulation.
The Journal of endocrinology, 2020

The important role of astrocytes in the central control of energy balance and glucose homeostasis has recently been recognized. Changes in thermoregulation can lead to metabolic dysregulation, but the role of astrocytes in this process is not yet clear. Therefore, we generated mice congenitally lacking insulin receptors (Ir) in astrocytes (IrKOGFAP mice) to investigate the involvement of astrocyte insulin signaling. IrKOGFAP mice displayed significantly lower energy expenditure and a strikingly lower basal and fasting body temperature. When exposed to cold, however, they were able to mount a thermogenic response. IrKOGFAP mice displayed sex differences in metabolic function and thermogenesis that may contribute to the development of obesity and type II diabetes as early as 2 months of age. While brown adipose tissue exhibited higher adipocyte size in both sexes, more apoptosis was seen in IrKOGFAP males. Less innervation and lower BAR3 expression levels were also observed in IrKOGFAP brown adipose tissue. These effects have not been reported in models of astrocyte Ir deletion in adulthood. In contrast, body weight and glucose regulatory defects phenocopied such models. These findings identify a novel role for astrocyte insulin signaling in the development of normal body temperature control and sympathetic activation of BAT. Targeting insulin signaling in astrocytes has the potential to serve as a novel target for increasing energy expenditure.
Amyotrophic lateral sclerosis: a clinical review.
European journal of neurology, 2020

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system, but in which extra-motor manifestations are increasingly recognized. The loss of upper and lower motor neurons in the motor cortex, the brain stem nuclei and the anterior horn of the spinal cord gives rise to progressive muscle weakness and wasting. ALS often has a focal onset but subsequently spreads to different body regions, where failure of respiratory muscles typically limits survival to 2-5 years after disease onset. In up to 50% of cases, there are extra-motor manifestations such as changes in behaviour, executive dysfunction and language problems. In 10%-15% of patients, these problems are severe enough to meet the clinical criteria of frontotemporal dementia (FTD). In 10% of ALS patients, the family history suggests an autosomal dominant inheritance pattern. The remaining 90% have no affected family members and are classified as sporadic ALS. The causes of ALS appear to be heterogeneous and are only partially understood. To date, more than 20 genes have been associated with ALS. The most common genetic cause is a hexanucleotide repeat expansion in the C9orf72 gene, responsible for 30%-50% of familial ALS and 7% of sporadic ALS. These expansions are also a frequent cause of frontotemporal dementia, emphasizing the molecular overlap between ALS and FTD. To this day there is no cure or effective treatment for ALS and the cornerstone of treatment remains multidisciplinary care, including nutritional and respiratory support and symptom management. In this review, different aspects of ALS are discussed, including epidemiology, aetiology, pathogenesis, clinical features, differential diagnosis, investigations, treatment and future prospects.
D-Serine Signaling and NMDAR-Mediated Synaptic Plasticity Are Regulated by System A-Type of Glutamine/D-Serine Dual Transporters.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2020

D-serine is a physiologic coagonist of NMDA receptors (NMDARs) required for synaptic plasticity, but mechanisms that terminate D-serine signaling are unclear. In particular, the identity of unidirectional plasma membrane transporters that mediate D-serine reuptake has remained elusive. We report that D-serine and glutamine share the same neuronal transport system, consisting of the classic system A transporters Slc38a1 and Slc38a2. We show that these transporters are not saturated with glutamine