rudyvdbrink/CitationDatabase huggingface dataset:
p13 protects against Parkinson's disease.
EMBO reports, 2018

Mitochondrial dysfunction is thought to contribute to Parkinson's disease progression, and factors that can overcome mitochondrial defects could potentially be used to combat the disease and prevent neuronal death. In this issue, Inoue
Comprehensive Behavioral Phenotyping of a 16p11.2 Del Mouse Model for Neurodevelopmental Disorders.
Autism research : official journal of the International Society for Autism Research, 2020

The microdeletion of copy number variant 16p11.2 is one of the most common genetic mutations associated with neurodevelopmental disorders, such as Autism Spectrum Disorders (ASDs). Here, we describe our comprehensive behavioral phenotyping of the 16p11.2 deletion line developed by Alea Mills on a C57BL/6J and 129S1/SvImJ F1 background (Del
Inhibitory network of spiking neurons may express a sharp peak of synchrony at low frequency band.
Biological cybernetics, 2009

Spike synchronization remains an important issue in neuroscience, and inhibitory networks are the best candidates to provide such synchrony. Increasing evidence indicates that in many brain area inhibitory interneurons of similar properties make reciprocal connections. We found that a hybrid, as well as model network, consisting of two reciprocally inhibitory spiking neurons may express a peak of synchronization in a narrow range of low spiking frequencies in addition to classically described plateau of synchrony at a wide range of high frequencies. Occurrence of the low frequency peak of synchrony requires a moderate-to-strong inhibitory coupling and relatively fast synapses. This novel possibility of synchronization in a narrow range of network parameters may have an important implication in discrimination and encoding of signals of precise intensity, as well as in altering network ability to process information.
MAFB modulates the maturation of lymphatic vascular networks in mice.
Developmental dynamics : an official publication of the American Association of Anatomists, 2020

Lymphatic vessels play key roles in tissue fluid homeostasis, immune cell trafficking and in diverse disease settings. Lymphangiogenesis requires lymphatic endothelial cell (LEC) differentiation, proliferation, migration, and co-ordinated network formation, yet the transcriptional regulators underpinning these processes remain to be fully understood. The transcription factor MAFB was recently identified as essential for lymphangiogenesis in zebrafish and in cultured human LECs. MAFB is activated in response to VEGFC-VEGFR3 signaling and acts as a downstream effector. However, it remains unclear if the role of MAFB in lymphatic development is conserved in the mammalian embryo.
Predicting Surgical Intervention in Cerebellar Stroke: A Quantitative Retrospective Analysis.
World neurosurgery, 2020

Debate still exists regarding whether preventive surgical decompression should be offered to high-risk patients experiencing cerebellar stroke. This study aimed to predict neurologic decline based on risk factors, volumetric analysis, and imaging characteristics.
Specific contribution of neurons from the Dbx1 lineage to the piriform cortex.
Scientific reports, 2021

The piriform cortex (PC) is a major cortical processing center for the sense of smell that receives direct inputs from the olfactory bulb. In mice, the PC consists of three neuronal layers, which are populated by cells with distinct developmental origins. One origin of PC neurons is the pool of Dbx1-expressing neural progenitors located in the ventral pallium at the pallial-subpallial boundary. Since the precise mechanisms of PC neuron development are largely unknown, we sought to define the distribution, timing of neurogenesis, morphology and projection patterns of PC neurons from the Dbx1 lineage. We found that Dbx1-lineage neurons are preferentially distributed in layer 2 and enriched in the ventral portion of the PC. Further, Dbx1 neurons are early-born neurons and contribute to most neuronal subtypes in the PC. Our data also revealed an enrichment of Dbx1-lineage neurons in the ventral anterior PC that project to the orbitofrontal cortex. These findings suggest a specific association between the developmental origin of PC neurons and their neuronal properties.
Characterization of odor-evoked neural activity in the olfactory peduncle.
IBRO reports, 2020

The tenia tecta is extensively interconnected with the main olfactory bulb and olfactory cortical areas and is well positioned to contribute to olfactory processing. However, little is known about odor representation within its dorsal (DTT) and ventral (VTT) components. To address this need, spontaneous and odor-evoked activity of DTT and VTT neurons was recorded from urethane anesthetized mice and compared to activity recorded from adjacent areas within adjacent caudomedial aspects of the anterior olfactory nucleus (AON). Neurons recorded from DTT, VTT, and AON exhibited odor-selective alterations in firing rate in response to a diverse set of monomolecular odorants. While DTT and AON neurons exhibited similar tuning breadth, selectivity, and response topography, the proportion of odor-selective neurons was substantially higher in the DTT. These findings provide evidence that the tenia tecta may contribute to the encoding of specific stimulus attributes. Further work is needed to fully characterize functional organization of the tenia tecta and its contribution to sensory representation and utilization.
ALS and fertility: does ALS affect number of children patients have?
Amyotrophic lateral sclerosis & frontotemporal degeneration, 2021

Amyotrophic Lateral Sclerosis is one major disease in the group of neurodegenerative conditions. As with most other neurodegenerative diseases, clinical signs of the disease usually show among the elderly population, and most commonly around 60-65 years of age. Therefore the disease is not expected to impact the fertility of ALS patients. When examined from an evolutionary medicine and evolutionary biology perspective, there should be no selection pressure on the patient population due to the late onset of ALS.
Antidepressant effects of 3-(3,4-methylenedioxy-5-trifluoromethyl phenyl)-2E-propenoic acid isobutyl amide involve TSPO-mediated mitophagy signalling pathway.
Basic & clinical pharmacology & toxicology, 2020

Piper laetispicum C. DC is one of the Chinese herbal medicines used for alleviating depressive disorders. G11-5 [3-(3, 4-methylenedioxy-5-trifluoromethyl phenyl)-2E-propenoic acid isobutyl amide] is synthesized based on the chemical structure of an active integrant of Piper laetispicum C. DC. The present study assessed the antidepressant effect of G11-5 and investigated the underlying mechanism with learned helplessness (LH) and social defeat stress (SDS) mice model of depression. In the LH model, mice were exposed to 60 inescapable electric shocks once a day for three consecutive days followed by 2-week drug administration and helpless behaviour assessment. In the SDS model, mice were subjected to repeated social defeat by an aggressive CD-1 mouse once a day for consecutive 10 days. Following oral administration for 2 weeks, the mice were subjected to a series of behavioural tests including social interaction test. G11-5 significantly decreased the number of escape failures induced by LH paradigm, meanwhile increased the social interaction ratio and shortened the immobility time in forced swimming test for the SDS-exposed mice, suggesting remarkable antidepressant effect. Moreover, G11-5 ameliorated the changes in mitophagy-related proteins induced by two stress exposures and restored retrograde axonal transport and neurotransmitter release. Our findings suggested that G11-5 exhibited an obvious antidepressant through TSPO-mediated mitophagy pathway.
Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.
Nature communications, 2020

The human cis-prenyltransferase (hcis-PT) is an enzymatic complex essential for protein N-glycosylation. Synthesizing the precursor of the glycosyl carrier dolichol-phosphate, mutations in hcis-PT cause severe human diseases. Here, we reveal that hcis-PT exhibits a heterotetrameric assembly in solution, consisting of two catalytic dehydrodolichyl diphosphate synthase (DHDDS) and inactive Nogo-B receptor (NgBR) heterodimers. Importantly, the 2.3 Å crystal structure reveals that the tetramer assembles via the DHDDS C-termini as a dimer-of-heterodimers. Moreover, the distal C-terminus of NgBR transverses across the interface with DHDDS, directly participating in active-site formation and the functional coupling between the subunits. Finally, we explored the functional consequences of disease mutations clustered around the active-site, and in combination with molecular dynamics simulations, we propose a mechanism for hcis-PT dysfunction in retinitis pigmentosa. Together, our structure of the hcis-PT complex unveils the dolichol synthesis mechanism and its perturbation in disease.
Orbital Surgical Guidelines-Clinical Evaluation.
Journal of neurological surgery. Part B, Skull base, 2021

Orbital disorders may present with change in form or function or may be discovered incidentally during clinical or imaging evaluations. A standardized orbital clinical examination, with appropriate ancillary tests, is helpful in narrowing the differential diagnosis and in the development of plans for management, with an eye toward minimizing the morbidity of the disease or its treatment. Evaluation and management may best be performed with a multidisciplinary team, which has become more common in skull base surgery.
Correction: Regulation of dopaminergic function: an [
Translational psychiatry, 2018

This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.
The Ability of the Nottingham Hip Fracture Score to Predict Mobility, Length of Stay and Mortality in Hospital, and Discharge Destination in Patients Admitted with a Hip Fracture.
Calcified tissue international, 2020

The Nottingham Hip Fracture Score (NHFS) has been developed for predicting 30-day and 1-year mortality after hip fracture. We hypothesise that NHFS may also predict other adverse events. Data from 666 patients (190 men, 476 women), aged 60.2-103.4 years, admitted with a hip fracture to a single centre from 1/10/2015 and 7/12/2017 were analysed. The ability of NHFS to predict mobility within 1 day after surgery, length of stay (LOS) find mortality, and discharge destination was evaluated by receiver operating characteristic curves and two-graph plots. The area under the curve (95% confidence interval [CI]) for predicting mortality was 67.4% (58.4-76.4%), prolonged LOS was 59.0% (54.0-64.0%), discharge to residential/nursing care was 62.3% (54.0-71.5%), and any two of failure to mobilise, prolonged LOS or discharge to residential/nursing care was 64.8% (59.0-70.6%). NHFS thresholds at 4 and 7 corresponding to the lower and upper limits of intermediate range where sensitivity and specificity equal 90% were identified for mortality and prolonged LOS, and 4 and 6 for discharge to residential/nursing care, which were used to create three risk categories. Compared with the low risk group (NHFS = 0-4), the high risk group (NHFS = 7-10 or 6-10) had increased risk of in-patient mortality: rates = 2.0% versus 7.1%, OR (95% CI) = 3.8 (1.5-9.9), failure to mobilise within 1 day of surgery: rates = 18.9% versus 28.3%, OR = 1.7 (1.0-2.8), prolonged LOS (> 17 days): rates = 20.3% versus 33.9%, OR = 2.2 (1.3-3.3), discharge to residential/nursing care: rates = 4.5% vs 12.3%, OR = 3.0 (1.4-6.4), and any two of failure to mobilise, prolonged LOS or discharge to residential/nursing care: rates = 10.5% versus 28.6%, 3.4 (95% CI 1.9-6.0), and stayed 4.1 days (1.5-6.7 days) longer in hospital. High NHFS associates with increased risk of mortality, prolonged LOS and discharge to residential/nursing care, lending further support for its use to identify adverse events.
Clinical Conditions "Suggestive of Progressive Supranuclear Palsy"-Diagnostic Performance.
Movement disorders : official journal of the Movement Disorder Society, 2020

The Movement Disorder Society diagnostic criteria for progressive supranuclear palsy introduced the diagnostic certainty level "suggestive of progressive supranuclear palsy" for clinical conditions with subtle signs, suggestive of the disease. This category aims at the early identification of patients, in whom the diagnosis may be confirmed as the disease evolves.
Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES.
Neuromuscular disorders : NMD, 2020

We report two Japanese patients with autosomal recessive limb-girdle muscular dystrophy type R25 (LGMDR25), harboring a novel recurrent homozygous nonsense variant of BVES. Muscle symptoms manifested from childhood to adulthood, initiated in the proximal or distal muscles of the lower limbs, and displayed asymmetric muscle involvement. Similar to the patients in previous reports, these patients also lost ambulation in late middle age. The posterior compartment of the lower limb muscles (biceps femoris, adductor magnus, gastrocnemius, and soleus) was preferentially affected as was the paraspinal muscle. Muscles in the anterior compartment of the thigh were affected in more advanced stages. Both patients had symptomatic atrioventricular block. The POPDC1 protein was undetectable in the muscles of the patients. As observed by transmission electron microscopy, one of the patient samples had fewer caveolae along the sarcolemma than a control sample.
Temporo-parietal contribution to the mental representations of self/other face.
Brain and cognition, 2020

Face recognition requires comparing the current visual input with stored mental representations of faces. Based on its role in visual recognition of faces and mental representation of the body, we hypothesized that the right temporo-parietal junction (rTPJ) could be implicated also in processing mental representation of faces. To test this hypothesis, we asked 30 neurotypical participants to perform mental rotation (laterality judgment of rotated pictures) of self- and other-face images, before and after the inhibition of rTPJ through repetitive transcranial magnetic stimulation. After inhibition of rTPJ the mental rotation of self-face was slower than other-face. In the control condition the mental rotation of self/other faces was not significantly different. This supports that the role of rTPJ extends to mental representation of faces, specifically for the self. Since the experimental task did not require to explicitly recognize identity, we propose that unconscious identity attribution affects also the mental representation of faces. The present study offers insights on the involvement rTPJ in mental representation of faces and proposes that the neural substrate dedicated to mental representation of faces goes beyond the traditional visual and memory areas.
Post-decision processing in primate prefrontal cortex influences subsequent choices on an auditory decision-making task.
eLife, 2019

Perceptual decisions do not occur in isolation but instead reflect ongoing evaluation and adjustment processes that can affect future decisions. However, the neuronal substrates of these across-decision processes are not well understood, particularly for auditory decisions. We measured and manipulated the activity of choice-selective neurons in the ventrolateral prefrontal cortex (vlPFC) while monkeys made decisions about the frequency content of noisy auditory stimuli. As the decision was being formed, vlPFC activity was not modulated strongly by the task. However, after decision commitment, vlPFC population activity encoded the sensory evidence, choice, and outcome of the current trial and predicted subject-specific choice biases on the subsequent trial. Consistent with these patterns of neuronal activity, electrical microstimulation in vlPFC tended to affect the subsequent, but not current, decision. Thus, distributed post-commitment representations of graded decision-related information in prefrontal cortex can play a causal role in evaluating past decisions and biasing subsequent ones.
Predictive value of discharge destination for 90-day outcomes among ischemic stroke patients eligible for endovascular treatment: Post-hoc analysis of DEFUSE 3.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association, 2020

The endovascular treatment (ET) for acute ischemic stroke (AIS) is increasing among eligible patients. To help address care quality, administrative data sets are utilized but do not usually include formal outcome scales. We explore the predictive ability of discharge destination from acute hospitalizations for long-term disability among AIS patients eligible for ET within a clinical trial.
Wireless communication interface for EEG/PSG Holter monitor.
Journal of medical engineering & technology, 2010

Communication interfaces for medical devices are normally wired. For long-term monitoring applications, wired devices limit patient mobility. In this paper a wireless communication interface for an EEG/PSG Holter monitor is presented. Selection of broadcasting band, communication standard, available hardware, and connection algorithm to use are discussed before making a choice. Results of experimental tests carried out on the prototype demonstrate the functionality of the implemented interface.
Reboxetine adjuvant therapy in patients with schizophrenia showing a suboptimal response to clozapine: a 12-week, open-label, pilot study.
Journal of clinical psychopharmacology, 2014

The present 12-week open-label uncontrolled trial was aimed to explore the efficacy of reboxetine add-on pharmacotherapy on clinical symptoms and cognitive functioning in 15 patients with schizophrenia with suboptimal response (mean [SD] Brief Psychiatric Rating Scale baseline total score, 32.2 [5.4]) despite receiving clozapine monotherapy at the highest tolerated dosage. The results obtained evidenced that reboxetine at a dosage of 4 mg/d mildly reduced only depressive symptoms (Calgary Depression Scale for Schizophrenia: P = 0.035, Cohen d = 0.7), whereas worsening of performances on phonemic fluency (P = 0.012, Cohen d = 0.5) was observed. After Bonferroni correction, changes at the Calgary Depression Scale for Schizophrenia and at the Verbal Fluency Task were not further confirmed.The results obtained indicate that reboxetine seemed to be scarcely effective for reducing clinical symptoms in patients with schizophrenia who have had an incomplete clinical response to clozapine. Regarding cognitive functioning, in our sample, a trend to experience cognitive impairment in the examined domains was observed, as confirmed by a mild worsening of performances on cognitive tasks.Schizophrenia is a heterogeneous disorder with regard to pathophysiology; therefore, data reflecting the mean response of a sample of patients may fail to reveal therapeutic effects. More research is needed to better identify subgroups of patients with peculiar features, which may account for responsivity to experimental medications and augmentation strategies.
Historical reflection on Taijin-kyōfushō during COVID-19: a global phenomenon of social anxiety?
History and philosophy of the life sciences, 2021

Although fear and anxiety have gradually become a shared experience in the time of COVID-19, few studies have examined its content from historical, cultural, and phenomenological perspectives concerning the self-awareness and alterity. We discuss the development of the ubiquitous nature of Taijin-kyōfushō (TKS), a subtype of social anxiety disorder (SAD) originated and considered culturally-bound in the 1930s Japan involving fear of offending or displeasing other people. Considering the historical processes of disease classification, advances in cognitive neurosciences, and the need to better understand the content of suffering, psychiatric nosology for SAD still appears controversial and requires further investigations.
Incidental Finding of a Duplicated Vertebral Artery Followed by a Spinal Dural Arteriovenous Fistula on Spinal Angiography.
Cureus, 2020

Duplicated origin of the vertebral artery (VA) is an extremely rare normal anatomic variant. While most often considered non-pathological, duplicated origin carries an increased risk of dissection. An association with vascular pathologies such as aneurysms, arteriovenous malformations, and AV fistulas has been suggested. The objective is to describe this unusual anatomic variant with is concomitant vascular pathology and review current literature. The authors report a case of incidentally-discovered duplicated origin of the left VA in patients with a spinal dural arteriovenous fistula (dAVF). A 61-year-old man with a history significant for sarcoidosis presented with progressive lower extremity weakness and paresthesias. MRI of the thoracic spine demonstrated significant confluent edema and patchy contrast enhancement in the caudal spinal cord and conus medullaris which did not appear related to the patient's neurosarcoidosis. A diagnostic spinal angiogram incidentally demonstrated that the left V1 segment had a duplicated origin, one branch arising from the aortic arch and the other branch arising from the left subclavian artery, with union at the C5 transverse foramen. This finding represented an incidental anomaly discovery was noted to be incidental and was not believed to be related to the patients underlying pathology. Subsequently, a dAVF was discovered, originating from the right T7 spinal artery. Location of this vascular malformation directly correlated with the patient's symptoms. The patient then underwent embolization of the spinal dAVF and recovered uneventfully. Duplicated origin of the VA is an extremely rare but well-described variant, most commonly involving the left VA. To our knowledge, this is the only reported spinal dAVF associated with duplicated origin of the left VA. An association with other pathological entities has been suggested, and thus this case adds to a growing body of cases characterizing these relationships.
[Important and Unresolved Aspects of Neuropathologic Analyses of COVID-19 Individuals].
Brain and nerve = Shinkei kenkyu no shinpo, 2020

The pathomechanisms of central nervous system disorders associated with COVID-19 remain unsolved. It is therefore imperative to carry out pathologic, virologic, and molecular analyses of the human brain tissue to understand the neurological manifestations of COVID-19. However, autopsy of COVID-19 poses challenges in terms of infection control. In this short review, the neuropathologic findings of individuals with COVID-19 were summerised and a possible autopsy methodologies to investigate these further were proposed.