rudyvdbrink/CitationDatabase huggingface dataset:
17β-Oestradiol Attenuates the Photoreceptor Apoptosis in Mice with Retinitis Pigmentosa by Regulating N-myc Downstream Regulated Gene 2 Expression.
Neuroscience, 2021

Retinitis pigmentosa (RP) is a heterogeneous group of retinal degenerative diseases in which the final pathological feature is photoreceptor cell apoptosis. Currently, the pathogenesis of RP remains poorly understood and therapeutics are ineffective. 17β-Oestradiol (βE2) is universally acknowledged as a neuroprotective factor in neurodegenerative diseases and has manifested neuroprotective effects in a light-induced retinal degeneration model. Recently, we identified N-myc downstream regulated gene 2 (NDRG2) suppression as a molecular marker of mouse retinal photoreceptor-specific cell death. βE2 has also been reported to regulate NDRG2 in salivary acinar cells. Therefore, in this study, we investigated whether βE2 plays a protective role in RP and regulates NDRG2 in photoreceptor cells. To this end, we generated RP models and observed that βE2 not only reduced the apoptosis of photoreceptor cells, but also restored the level of NDRG2 expression in RP models. Then, we showed that siNDRG2 inhibits the anti-apoptotic effect of βE2 on photoreceptor cells in a cellular RP model. Subsequently, we used a classic oestrogen receptor (ER) antagonist to attenuate the effects of βE2, suggesting that βE2 exerted its effects on RP models via the classic ERs. In addition, we performed a bioinformatics analysis, and the results indicated that the reported oestrogen response element (ERE) sequence is present in the promoter region of the mouse NDRG2 gene. Overall, our results suggest that βE2 attenuated the apoptosis of photoreceptor cells in RP models by maintaining NDRG2 expression via a classic ER-mediated mechanism.
Rare Association of Pneumomediastinum With Bilateral Pneumothorax.
Cureus, 2020

Pneumomediastinum with bilateral pneumothorax is a clinical entity caused by infections, malignancy, or trauma, as in our case. Some patients present with pneumomediastinum secondary to trauma have esophageal, laryngeal, or tracheal injuries. A 16-year-old boy presented in the emergency department with complaints of shortness of breath and bruise on the chest after a history of the road traffic accident. Bilateral chest tube thoracotomy was done. Pneumomediastinum was suspected on X-ray chest and confirmed on computed tomography of the chest, which showed bilateral pneumothorax with pneumomediastinum. The patient was conservatively managed and discharged after 10 days.
Choroidal Changes in Diabetic Patients With Different Stages of Diabetic Retinopathy.
Cureus, 2020

Diabetic retinopathy (DR) is one of the long-term microvascular complications of diabetes mellitus (DM) and is considered a leading cause of vision loss worldwide. Chronic hyperglycemia can cause microvascular abnormalities to the retina and the choroid as well. The vascular tissue of the choroid supplies blood to the outer retina, photoreceptors, and retinal pigment epithelium. It plays an important role in the metabolic exchange of the retina. Many experimental studies reported that choroidal pathology in diabetic patients might play a role in developing DR. Choroidal thickness (CT) can reflect changes in the vasculature of the choroid and can be used to assess the vascularity of the choroid itself. CT differs between healthy and diseased states of the eye as well as with the aging process. This means that thinner or thicker choroid may indicate an ocular disease. Choroidal vascularity index (CVI) is also used as a marker for choroidal vascularity assessment and indirectly measures choroidal vascularity quantitatively. Many studies have been conducted to evaluate the choroid in many different ocular diseases. However, the results regarding CT in DM, especially in patients with DR, are various as thickened, thinned, or no changes. Thus, the status of the choroid in patients with DM with or without DR remains controversial between researchers. In this systematic review, we reviewed 18 articles that were done to investigate the relationship between structural choroidal changes in diabetic patients with different stages of DR, focusing on CT, CVI, and some other parameters evaluating choroidal changes.
Viral rhodopsins 1 are an unique family of light-gated cation channels.
Nature communications, 2020

Phytoplankton is the base of the marine food chain as well as oxygen and carbon cycles and thus plays a global role in climate and ecology. Nucleocytoplasmic Large DNA Viruses that infect phytoplankton organisms and regulate the phytoplankton dynamics encompass genes of rhodopsins of two distinct families. Here, we present a functional and structural characterization of two proteins of viral rhodopsin group 1, OLPVR1 and VirChR1. Functional analysis of VirChR1 shows that it is a highly selective, Na
Dream enactment behavior: review for the clinician.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, 2020

Dream enactment behavior commonly occurs on occasion in normal children and adults. Disruptive and frequent dream enactment behavior may come to the attention of the clinician either as the primary reason for consultation or as a prominent characteristic of a patient with other sleep disorders. Questioning patients with chronic neurologic and psychiatric disorders may also reveal previously unrecognized behavior. In the absence of sleep pathology, process of dream enactment likely begins with active, often emotionally charged dream content that may occasionally break through the normal REM sleep motor suppressive activity. Disrupted sleep resulting from many possible causes, such as circadian disruption, sleep apnea, or medications, may also disrupt at least temporarily the motor-suppressive activity in REM sleep, allowing dream enactment to occur. Finally, pathological neurological damage in the context of degenerative, autoimmune, and infectious neurological disorders may lead to chronic recurrent and severe dream enactment behavior. Evaluating the context, frequency, and severity of dream enactment behavior is guided first and foremost by a structured approach to the sleep history. Physical exam and selected testing support the clinical diagnosis. Understanding the context and the likely cause is essential to effective therapy.
Delayed diagnosis of spinal cord injuries in Huntington's disease.
Practical neurology, 2021

Huntington's disease is a neurodegenerative disorder, characterised by progressive cognitive, motor and psychiatric symptoms. Patients with advanced disease presenting to emergency medical services can pose a diagnostic and management challenge for physicians unfamiliar with the condition. We describe two patients with Huntington's disease in whom the diagnosis of traumatic spinal cord injury was delayed, discuss the role that cognitive bias and other factors played in this delay, and the lessons we can learn.
Continuous Dopaminergic Stimulation as a Treatment for Parkinson's Disease: Current Status and Future Opportunities.
Movement disorders : official journal of the Movement Disorder Society, 2020

Levodopa-induced motor complications remain an important source of disability for many patients with Parkinson's disease. Substantial laboratory evidence indicates that motor complications relate to the nonphysiological restoration of brain dopamine with intermittent doses of standard oral levodopa. Dopamine levels are normally maintained at a relatively constant level, even following a dose of levodopa. However, in the Parkinsonian state, where dopamine terminals have degenerated with a loss of their buffering capacity, intermittent doses of levodopa lead to dramatic peak and trough fluctuations in striatal dopamine levels. This results in pulsatile stimulation of dopamine receptors, molecular changes in striatal neurons, physiological changes in pallidal neurons, and ultimately the development of motor complications. These observations led to the hypothesis that continuous delivery of levodopa might be associated with a reduced risk of motor complications. This concept is known as continuous dopamine stimulation (CDS). Preliminary studies in animal models and patients with Parkinson's disease supported this hypothesis, suggesting a reduced risk of both motor fluctuations and dyskinesias. The present review considers the scientific advances and the more definitive clinical trials testing this concept that have taken place during the past decade and considers ongoing experimental studies and future opportunities. © 2020 International Parkinson and Movement Disorder Society.
Towards blood biomarkers for stroke patients.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 2021

Stroke outcome considerably varies between stroke patients and often cannot be predicted. Now, Gendrun and colleagues investigated the suitability of blood neurofilament light chain proteins (NFL) as a biomarker of neuronal damage. High NFL levels correlated with brain injury, functional outcome and mortality following all major types of stroke. These data raise hope to revolutionize future prognosis and management of stroke patients.
Microtubule-associated protein tau promotes neuronal class II β-tubulin microtubule formation and axon elongation in embryonic Xenopus laevis.
The European journal of neuroscience, 2015

Compared with its roles in neurodegeneration, much less is known about microtubule-associated protein tau's normal functions in vivo, especially during development. The external development and ease of manipulating gene expression of Xenopus laevis embryos make them especially useful for studying gene function during early development. To study tau's functions in axon outgrowth, we characterized the most prominent tau isoforms of Xenopus embryos and manipulated their expression. None of these four isoforms were strictly analogous to those commonly studied in mammals, as all constitutively contained exon 10, which is preferentially removed from mammalian fetal tau isoforms, as well as exon 8, which in mammals is rare. Nonetheless, like mammalian tau, Xenopus tau exhibited alternative splicing of exon 4a, which in mammals distinguishes 'big' tau of peripheral neurons, and exon 6. Strongly suppressing tau expression with antisense morpholino oligonucleotides only modestly compromised peripheral nerve outgrowth of intact tadpoles, but severely disrupted neuronal microtubules containing class II β-tubulins while leaving other microtubules largely unperturbed. Thus, the relatively mild dependence of axon development on tau likely resulted from having only a single class of microtubules disrupted by its loss. Also, consistent with its greater expression in long peripheral axons, boosting expression of 'big' tau increased neurite outgrowth significantly and enhanced tubulin acetylation more so than did the smaller isoform. These data demonstrate the utility of Xenopus as a tool to gain new insights into tau's functions in vivo.
The role of neuropathology in the management of newly diagnosed glioblastoma: a systematic review and evidence-based clinical practice guideline.
Journal of neuro-oncology, 2020

These recommendations apply to adult patients with newly diagnosed or suspected glioblastoma (GBM) QUESTION : For adult patients with newly diagnosed GBM does testing for Isocitrate Dehydrogenase 1 or 2 (IDH 1/2) mutations afford benefit beyond standard histopathology in providing accurate classification and outcome prognostication? Level III IDH 1/2 mutational status by immunohistochemistry (IHC) and/or sequencing is suggested for classification and prognostic information. Level III Non-canonical IDH 1/2 mutations are very rare in patients aged 55 or older and universal testing of variant mutations by sequence analysis is not suggested for this age range.
[Voxel-Based Morphometry and Cognitive Function].
Brain and nerve = Shinkei kenkyu no shinpo, 2017

Voxel-based morphometry has been used to investigate the associations between regional gray and white matter volume and cognitive function. The manuscript introduces these studies' methods, cautions, results, and problems related to the reports of the results. In many studies of ours that investigating these associations using the huge sample size and robust statistics, the associations were weak and wide spread in the brain. These patterns of results suggest the difficulty in finding the specific neural bases that underlie individual cognitive functions through VBM.
MicroRNA-210 Regulates Dendritic Morphology and Behavioural Flexibility in Mice.
Molecular neurobiology, 2021

MicroRNAs are known to be critical regulators of neuronal plasticity. The highly conserved, hypoxia-regulated microRNA-210 (miR-210) has been shown to be associated with long-term memory in invertebrates and dysregulated in neurodevelopmental and neurodegenerative disease models. However, the role of miR-210 in mammalian neuronal function and cognitive behaviour remains unexplored. Here we generated Nestin-cre-driven miR-210 neuronal knockout mice to characterise miR-210 regulation and function using in vitro and in vivo methods. We identified miR-210 localisation throughout neuronal somas and dendritic processes and increased levels of mature miR-210 in response to neural activity in vitro. Loss of miR-210 in neurons resulted in higher oxidative phosphorylation and ROS production following hypoxia and increased dendritic arbour density in hippocampal cultures. Additionally, miR-210 knockout mice displayed altered behavioural flexibility in rodent touchscreen tests, particularly during early reversal learning suggesting processes underlying updating of information and feedback were impacted. Our findings support a conserved, activity-dependent role for miR-210 in neuroplasticity and cognitive function.
Factor Structure of the Wechsler Intelligence Scale for Children-Fourth Edition Spanish in a Clinical Sample.
Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists, 2019

The Wechsler Intelligence Scale for Children-Fourth Edition Spanish (WISC-IV Spanish) is a translation and adaptation of the WISC-IV that is often used in neuropsychological evaluation of children and adolescents with acquired or developmental brain disorders. However, there is limited information on the factor structure of the WISC-IV Spanish when used with clinical populations. To address the potential effects of language and culture on the validity of the WISC-IV Spanish factor structure, this study examined the construct validity of the WISV-IV Spanish scores using confirmatory factor analysis in a clinical sample of Hispanic children with Attention-Deficit/Hyperactivity Disorder (ADHD).
Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Clinical and experimental immunology, 2021

Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The most common form is the X-linked CGD (X91-CGD), caused by mutations in the CYBB gene. Clinical, functional and genetic characterizations of 16 CGD cases of male patients and their relatives were performed. We classified them as suffering from different variants of CGD (X91
Differential alterations of insular cortex excitability after adolescent or adult chronic intermittent ethanol administration in male rats.
Journal of neuroscience research, 2021

Adolescent alcohol drinking, primarily in the form of binge-drinking episodes, is a serious public health concern. Binge drinking in laboratory animals has been modeled by a procedure involving chronic intermittent ethanol (CIE) administration, as compared with chronic intermittent water (CIW). The prolonged effects of adolescent binge alcohol exposure in adults, such as high risk of developing alcohol use disorder, are severe but available treatments in the clinic are limited. One reason is the lack of sufficient understanding about the associated neuronal alterations. The involvement of the insular cortex, particularly the anterior agranular insula (AAI), has emerged as a critical region to explain neuronal mechanisms of substance abuse. This study was designed to evaluate the functional output of the AAI by measuring the intrinsic excitability of pyramidal neurons from male rats 2 or 21 days after adolescent or adult CIE treatment. Decreases in intrinsic excitability in AAI pyramidal neurons were detected 21 days, relative to 2 days, after adolescent CIE. Interestingly, the decreased intrinsic excitability in the AAI pyramidal neurons was observed 2 days after adult CIE, compared to adult CIW, but no difference was found between 2 versus 21 days after adult CIE. These data indicate that, although the AAI is influenced within a limited period after adult but not adolescent CIE, neuronal alterations in AAI are affected during the prolonged period of withdrawal from adolescent but not adult CIE. This may explain the prolonged vulnerability to mental disorders of subjects with an alcohol binge history during their adolescent stage.
Body sway modulation by hypnotizability and gender during low and high demanding postural conditions.
Archives italiennes de biologie, 2013

The cognitive trait of hypnotizability, associated with the proneness to accept suggestions, exhibits several physiological correlates including the modulation of sensorimotor integration and, in particular, of postural control. In this respect, we have shown that, at eyes closure, healthy subjects with high hypnotizability scores (highs) having their feet 2 cm apart show larger and faster body sway with respect to low hypnotizable individuals (lows). The aim of the present study was to investigate whether hypnotizability modulates body sway during slightly more demanding and very difficult postural conditions such as feet together bipedal posture and one legged stance, respectively. The Center of Pressure (CoP) Area, mean Velocity, the CoP mean position (Xmean, Ymean) and its variability (SDx, SDy) in the frontal and sagittal planes were acquired in 18 highs (9 females) and 18 lows (9 females). Results showed that the previously observed lows' smaller and slower body sway was not present any longer. Nonetheless, hypnotizability interacted with gender in the modulation of the variability of the CoP movement in the frontal plane during both the bipedal feet together posture and one legged stance, as significant gender differences were observed only among lows. In conclusion, results confirm a role of hypnotizability in sensorimotor integration and support the relevance of hypnotic assessment in clinical settings, as hypnotizability may be responsible for part of the postural variability.
Do Menopause and Aging Affect the Onset and Progression of Rheumatoid Arthritis and Systemic Lupus Erythematosus?
Cureus, 2020

Rheumatoid arthritis and systemic lupus erythematosus (SLE) are autoimmune diseases that are commonly seen in the female population. Rheumatoid arthritis mainly consists of distal symmetrical deforming polyarthritis. SLE patients have immune complexes that damage the organs and systems of the body, and this can present with one or more symptoms including the characteristic malar rash, serositis, lupus nephritis, photosensitivity, and arthritis of large joints. The onset and progression of the diseases are affected by physiological processes that occur in the body such as menopause and aging. The studies used as evidence were found in the PubMed, ScienceDirect, ProQuest, Taylor & Francis Online, Wiley Online Library, Ovid, and Oxford Academic databases. By analyzing these studies, the effects of aging and menopause on rheumatoid arthritis and SLE were revealed. In relation to menopause and aging, it was found that there was a progression of disease in women who had rheumatoid arthritis. However, aging and menopause caused the progression of SLE to decrease in women. An earlier age of onset of menopause was correlated with an increased chance of developing rheumatoid arthritis and SLE. Furthermore, while some studies showed that a later onset of SLE caused an increase in the progression of the disease, other studies showed that a later onset of SLE led to a decrease in the progression of the disease. Due to the prevalence of rheumatoid arthritis and SLE in females, we believe that the effects of menopause, age, and other factors on these two diseases should be examined in future studies.
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.
European journal of medical genetics, 2021

Spontaneous cervical artery dissection (CeAD) is a major cause of ischemic stroke in young adults, whose genetic susceptibility factors are still largely unknown. Nevertheless, subtle ultrastructural connective tissue alterations (especially in the collagen fibril morphology) are recognized in a large proportion of CeAD patients, in which recent genetic investigations reported an enrichment of variants in genes associated with known connective tissue disorders. In this regard, COL5A1 variants have been reported in a small subset of CeAD patients, with or without classical Ehlers-Danlos syndrome (cEDS) features. We investigated a 22-year-old patient with intracranial aneurysm and mild connective tissue manifestations reminiscent of EDS. Whole-exome sequencing identified two COL5A1 missense variants in trans configuration: NM_000093.5:c.[1588G>A];[4135C>T], NP_000084.3:p.[(Gly530Ser)];[(Pro1379Ser)]. Functional assays demonstrated a significant decrease of collagen α1(V) chain expression in both heterozygous parents compared to control cells, and an additive effect of these two variants in the proband. Interestingly, both parents manifested very subtle EDS signs, such as atrophic scars, recurrent bone fractures, colonic diverticulosis, varicose veins, and osteoarthritis. Our findings emphasize the involvement of COL5A1 in the predisposition to vascular phenotypes and provide novel insights on the c.1588G>A variant, whose functional significance has not been definitely established. In fact, it was previously reported as both "disease modifying", and as a biallelic causative mutation (with heterozygous individuals showing subtle clinical signs of cEDS). We speculated that the c.1588G>A variant might lead to overt phenotype in combination with additional genetic "hits" lowering the collagen α1(V) chain expression below a hypothetical disease threshold.