rudyvdbrink/CitationDatabase huggingface dataset:
Speech and hearing in adults with 22q11.2 deletion syndrome.
American journal of medical genetics. Part A, 2012

The purpose of the study was to investigate the prevalence of velopharyngeal impairment, compensatory articulation, reduced intelligibility, and to rate the general impression of speech in adults with 22q11.2 deletion syndrome. The second purpose was to study the prevalence and type of hearing impairment in these adults. A referred, consecutive series of 24 adults with confirmed 22q11.2 deletion, 16 female and 8 males, with a mean age of 25 years (19-38 years) was included in the study. A blind assessment of speech by three experienced speech-language pathologists was performed. Sixteen (66%) patients had a mild to severe velopharyngeal impairment. The most prevalent symptoms of velopharygeal impairment were hypernasality and audible nasal airflow. The mean nasalance score was 33% (6-66%). Only two patients had disordered articulation; one of these had glottal articulation. A mean of 96% (88-100%) of single words were rated to be intelligible. To achieve these results half of the patients previously had velopharyngeal flap surgery. Forty-one percent (9/22) had mild-moderate hearing impairment; three had sensorineural type, four conductive and two had a mixed type. In conclusion the majority of the patients had no articulation errors and good intelligibility; while one-third still had moderate to severe problems with velopharyngeal impairment. Around 40% still had some hearing impairment, in most cases with a mild to moderate conductive component. Thus, a high prevalence of speech and hearing problems seems to be a part of the phenotype in adults with 22q11.2DS.
The ontogeny of a mammalian cognitive map in the real world.
Science (New York, N.Y.), 2020

How animals navigate over large-scale environments remains a riddle. Specifically, it is debated whether animals have cognitive maps. The hallmark of map-based navigation is the ability to perform shortcuts, i.e., to move in direct but novel routes. When tracking an animal in the wild, it is extremely difficult to determine whether a movement is truly novel because the animal's past movement is unknown. We overcame this difficulty by continuously tracking wild fruit bat pups from their very first flight outdoors and over the first months of their lives. Bats performed truly original shortcuts, supporting the hypothesis that they can perform large-scale map-based navigation. We documented how young pups developed their visual-based map, exemplifying the importance of exploration and demonstrating interindividual differences.
The current role of capillaroscopy in vasculitides.
Clinical rheumatology, 2019

Nailfold capillaroscopy (NFC) has gained remarkable interest among rheumatologists because of its utility in both clinical practice and research activity. Nevertheless, there has been scarce attention on its potential in other rheumatic disorders such as vasculitis. We perform a systematic review of literature on NFC in noninfectious vasculitides, with the aim to provide an overview of the main NFC changes described, to discuss the current evidence supporting its clinical impact and applications in daily practice and to provide future research fields.
White matter abnormalities in patients with temporal lobe epilepsy and amygdala enlargement: Comparison with hippocampal sclerosis and healthy subjects.
Epilepsy research, 2016

Cases of temporal lobe epilepsy (TLE) with ipsilateral amygdala enlargement (AE) have increasingly been reported. However, the white matter (WM) abnormalities of TLE patients with AE remain poorly investigated. Here we explored macrostructural and microstructural WM abnormalities in TLE patients with AE compared to normal controls and TLE patients with hippocampal sclerosis (HS).
Dissociable influences of NR2B-receptor related neural transmission on functions of distinct associative basal ganglia circuits.
NeuroImage, 2010

Glutamate is an important excitatory neurotransmitter within functional prefrontal-basal ganglia loops. These distinct loops mediate different cognitive functions. One function of the anterior-cingulate loop is error processing. One function of the orbito-frontal loop is response inhibition. These functions are altered in several neuro-psychiatric disorders like Huntington's disease (HD). Because of the known role of the GRIN2B C2664T polymorphism in HD neuropathology, which is partly due to increased glutamatergic neural transmission, we analyze how this polymorphism influences error processing and response inhibition in a sample of healthy probands (N=65). Combining a genetic approach with event-related potential (ERP) measurements of response inhibition (OFC-loop function) and error processing (ACC-loop function), we provide robust results showing a selective modulation of response inhibition processes by the GRIN2B C2664T polymorphism at the behavioural and neurophysiological level. Response inhibition processes were stronger in the CT/TT genotype group, compared to the CC genotype group. Since error processing functions were not affected, the results suggest for differential influences of the GRIN2B C2664T polymorphism on response inhibition and error processing functions. The results provide first insight into cognitive-neurophysiological effects of the GRIN2B C2664T polymorphism. The dissociation obtained may be due to a differential importance of N-methyl-D-aspartate receptors for glutamatergic neural transmission in different striatal compartments (matrix and striosomes). We provide a model on this that may be a target for future research.
Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.
Amyotrophic lateral sclerosis & frontotemporal degeneration, 2013

Abstract We present a case of concurrent cystic fibrosis (CF) and amyotrophic lateral sclerosis (ALS). To our knowledge this is the first reported coincidence of these two diseases. Although TDP-43 dysfunction has been linked to both pathologies, it does not appear to be pivotal in this individual who does not display TDP-43 mediated aberrant splicing of the CFTR gene or carry a mutation in the TARDBP gene. Alternative reasons for the coincidence are discussed including medication, infection, hypoxia and loss of function of the CFTR channel. Our findings await validation by others, but as the prognosis of CF improves then clinicians in both fields should be aware of the possibilities highlighted by this case.
Human iPSC-derived mature microglia retain their identity and functionally integrate in the chimeric mouse brain.
Nature communications, 2020

Microglia, the brain-resident macrophages, exhibit highly dynamic functions in neurodevelopment and neurodegeneration. Human microglia possess unique features as compared to mouse microglia, but our understanding of human microglial functions is largely limited by an inability to obtain human microglia under homeostatic states. Here, we develop a human pluripotent stem cell (hPSC)-based microglial chimeric mouse brain model by transplanting hPSC-derived primitive macrophage progenitors into neonatal mouse brains. Single-cell RNA-sequencing of the microglial chimeric mouse brains reveals that xenografted hPSC-derived microglia largely retain human microglial identity, as they exhibit signature gene expression patterns consistent with physiological human microglia and recapitulate heterogeneity of adult human microglia. Importantly, the engrafted hPSC-derived microglia exhibit dynamic response to cuprizone-induced demyelination and species-specific transcriptomic differences in the expression of neurological disease-risk genes in microglia. This model will serve as a tool to study the role of human microglia in brain development and degeneration.
Development of a Predictive Score for Discharge Disposition After Lumbar Fusion Using the Quality Outcomes Database.
Neurosurgery, 2018

Lumbar fusion remains the treatment of choice for many degenerative pathologies. Healthcare costs related to the procedure are a concern, and postdischarge needs often contribute to greater expenditure. The Quality Outcomes Database (QOD) is a prospective, multicenter clinical registry designed to analyze outcomes after neurosurgical procedures.
Caloric restriction stimulates autophagy in rat cortical neurons through neuropeptide Y and ghrelin receptors activation.
Aging, 2016

Caloric restriction is an anti-aging intervention known to extend lifespan in several experimental models, at least in part, by stimulating autophagy. Caloric restriction increases neuropeptide Y (NPY) in the hypothalamus and plasma ghrelin, a peripheral gut hormone that acts in hypothalamus to modulate energy homeostasis. NPY and ghrelin have been shown to be neuroprotective in different brain areas and to induce several physiological modifications similar to those induced by caloric restriction. However, the effect of NPY and ghrelin in autophagy in cortical neurons is currently not known. Using a cell culture of rat cortical neurons we investigate the involvement of NPY and ghrelin in caloric restriction-induced autophagy. We observed that a caloric restriction mimetic cell culture medium stimulates autophagy in rat cortical neurons and NPY or ghrelin receptor antagonists blocked this effect. On the other hand, exogenous NPY or ghrelin stimulate autophagy in rat cortical neurons. Moreover, NPY mediates the stimulatory effect of ghrelin on autophagy in rat cortical neurons. Since autophagy impairment occurs in aging and age-related neurodegenerative diseases, NPY and ghrelin synergistic effect on autophagy stimulation may suggest a new strategy to delay aging process.
Early preclinical evaluation of dihydropyrimidin(thi)ones as potential anticonvulsant drug candidates.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences, 2017

Although significant advances are occurring in epilepsy research, about 30% of epileptic patients are still inadequately controlled by standard drug therapy. For this reason, it continues to be important to develop new chemical entities through which epilepsy could be effectively controlled. In this study, the anticonvulsant activity of forty-two dihydropyrimidin(thi)ones was explored and their efficacy was evaluated in rodents against the maximal electroshock seizure (MES) and subcutaneous pentylenetetrazole tests. The results of preliminary pharmacological screening after intraperitoneal injection in mice revealed that twenty-four compounds showed protection in half or more of the animals tested in the MES seizure model, being nine of them active at the lowest dose tested (30mg/kg). Structurally, the most promising compounds (both urea and thiourea derivatives) presented smaller lateral chains and unsubstituted or para-substituted phenyl ring with a methyl group. Compounds 4, 5 and 11 also protected against MES-induced seizures in 50-75% of rats after oral administration at 30mg/kg. Moreover, the minimal motor and/or neurological impairment evaluated through the rotarod assay showed that around 52% of the compounds presented lower toxicity than the antiepileptic drugs lamotrigine, carbamazepine and phenytoin. In addition, the most active compounds did not show notable cytotoxicity in in vitro experiments conducted in several cell lines (relative cell proliferation higher than 50% at 30μM), which can be relevant due to the fact that the toxicity is a common problem of the available antiepileptic drugs. Furthermore, additional computational studies indicated that all compounds respected the Lipinski's rule of five, which, together with the data of efficacy and toxicity, make them attractive compounds to be developed in the future as potential anticonvulsant agents.
Wilbrand's Knee: To Be or Not to Be a Knee?
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 2020

Wilbrand's knee of the optic chiasm refers to crossing fibers from one optic nerve that stray for a short distance into the opposite optic nerve before joining the optic tract. This loop of aberrant axons, although small, has generated much controversy. In a previous study, labeling of the optic pathway in normal monkeys with a radioactive tracer revealed no Wilbrand's knee. Monocular enucleation induced a typical knee to form. These findings suggested that Wilbrand's knee is absent normally, but appears after atrophy of one optic nerve. This conclusion has been challenged by images showing Wilbrand's knee in the normal human chiasm using anisotropic light scattering. It has also been resisted by some clinicians who believe that Wilbrand's knee is necessary to explain the anterior chiasmal syndrome. Early in his distinguished career, William F. Hoyt examined the fiber organization of the monkey optic nerve and chiasm. He found no evidence for Wilbrand's knee and rejected its importance for the topical diagnosis of chiasmal lesions. His conclusion is supported by new data showing that anisotropic light scattering is not a reliable method for tracing axons. Hence, that method has given a misleading impression that Wilbrand's knee exists in normal subjects. Although Wilbrand's knee has fascinated neuro-ophthalmologists for more than a century, it is an inconsequential structure that develops only after a longstanding monocular optic neuropathy.
Neural correlates of social influence on risk perception during development.
Social neuroscience, 2020

Studies have shown that adolescents are more likely than adults to take risks in the presence of peers than when alone, and that young adolescents' risk perception is more influenced by other teenagers than by adults. The current fMRI study investigated the effect of social influence on risk perception in female adolescents (aged 12-14) and adults (aged 23-29). Participants rated the riskiness of everyday situations and were then informed about the (alleged) risk ratings of a social influence group (teenagers or adults), before rating each situation again. The results showed that adolescents adjusted their ratings to conform with others more than adults did, and both age groups were influenced more by adults than by teenagers. When there was a conflict between the participants' own risk ratings and the ratings of the social influence group, activation was increased in the posterior medial frontal cortex, dorsal cingulate cortex and inferior frontal gyrus in both age groups. In addition, there was greater activation during no-conflict situations in the right middle frontal gyrus and bilateral parietal cortex in adults compared with adolescents. These results suggest that there are behavioral and neural differences between adolescents and adults in conflict and no-conflict social situations.
LLDT-8 protects against cerebral ischemia/reperfusion injury by suppressing post-stroke inflammation.
Journal of pharmacological sciences, 2016

(5R)-5-Hydroxytriptolide (LLDT-8), an analogue of triptolide, displays lower toxicity compared to triptolide and has comparable immunosuppressive effects. We investigated the anti-inflammatory and neuroprotective effects of LLDT-8 on cerebral ischemia/reperfusion injury.
Understanding the Inflammatory Tissue Reaction to Brain Implants To Improve Neurochemical Sensing Performance.
ACS chemical neuroscience, 2017

Neurochemical sensing probes are a valuable diagnostic and therapeutic tool that can be used to study neurodegenerative diseases involving deficiencies in neurotransmitter signaling. However, implantation of these biosensors can elicit a harmful tissue response that alters the neurochemical environment within the brain. Transmission of chemical messengers via neurons is impeded by a barrier-forming glial scar that occurs within weeks after insertion followed by progressive neurodegeneration, attenuating signal sensitivity. Emerging research reveals that non-neuronal cells also influence the neurochemical milieu following injury both directly and indirectly. The reactivity of both microglia and astrocytes to inserted probes have been extensively studied in the past yet there remains other glial subtypes in the brain, such as oligodendrocytes and their precursors, the myelin structures they form, as well as vascular-bound pericytes, that have the potential to contribute significantly to the inflammation due to their responsibility to maintain tissue homeostasis. A brief overview of how tissue injury alters the neurochemical makeup followed by alternative potential targets of investigation and novel strategies to enhance the chemical sensing abilities of implantable probes will be discussed.
The development of a shoulder specific left/right judgement task: Validity & reliability.
Musculoskeletal science & practice, 2017

Disruption of cortically-held working body schema has been associated with a variety of pain conditions. A motor imagery technique - the left right judgement task (LRJT) - has been used as an indirect assessment of the integrity of the working body schema. To date there is no LRJT specifically designed to investigate the body schema of persons with shoulder pain.
Effects of Venous Angioplasty on Cerebral Lesions in Multiple Sclerosis: Expanded Analysis of the Brave Dreams Double-Blind, Sham-Controlled Randomized Trial.
Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists, 2020

To evaluate if jugular vein flow restoration in various venographic defects indicative of chronic cerebrospinal venous insufficiency (CCSVI) in multiple sclerosis (MS) patients can have positive effects on cerebral lesions identified using magnetic resonance imaging (MRI).
Effects of activity-dependent strategies on regeneration and plasticity after peripheral nerve injuries.
Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft, 2011

Peripheral nerve injuries result in loss of motor, sensory and autonomic functions of the denervated limb, but are also accompanied by positive symptoms, such as hyperreflexia, hyperalgesia and pain. Strategies to improve functional recovery after neural injuries have to address the enhancement of axonal regeneration and target reinnervation and also the modulation of the abnormal plasticity of neuronal circuits. By enhancing sensory inputs and/or motor outputs, activity-dependent therapies, like electrostimulation or exercise, have been shown to positively influence neuromuscular functional recovery and to modulate the plastic central changes after experimental nerve injuries. However, it is important to take into account that the type of treatment, the intensity and duration of the protocol, and the period during which it is applied after the injury are factors that determine beneficial or detrimental effects on functional recovery. The adequate maintenance of activity of neural circuits and denervated muscles results in increased trophic factor release to act on regenerating axons and on central plastic changes. Among the different neurotrophins, BDNF seems a key player in the beneficial effects of activity-dependent therapies after nerve injuries.
Neural evidence that the behavioral inhibition system is involved in existential threat processing.
Social neuroscience, 2018

According to threat-general perspectives, existentially threatening prospects such as the inevitability of mortality or uncontrollability represent motivational discrepancies that activate the behavioral inhibition system (BIS). The aim of the present paper is to test this claim using neuroimaging and neurophysiological methods. In Study 1, we used neuroimaging to show that both mortality- and uncontrollability-related stimuli elicit activation in the anterior cingulate cortex, which is a key BIS region in humans. Focusing on the idea that BIS activation is associated with increased attention, Study 2 used electroencephalography to demonstrate that both mortality- and uncontrollability-related stimuli enhanced the late positive potential, an indicator of motivated attention. Together, these studies provide support for the model's prediction that existential threat activates the BIS.
Does motion-related brain functional connectivity reflect both artifacts and genuine neural activity?
NeuroImage, 2014

Imaging research on functional connectivity is uniquely contributing to characterize the functional organization of the human brain. Functional connectivity measurements, however, may be significantly influenced by head motion that occurs during image acquisition. The identification of how motion influences such measurements is therefore highly relevant to the interpretation of a study's results. We have mapped the effect of head motion on functional connectivity in six different populations representing a wide range of potential influences of motion on functional connectivity. Group-level voxel-wise maps of the correlation between a summary head motion measurement and functional connectivity degree were estimated in 80 young adults, 71 children, 53 older adults, 20 patients with Down syndrome, 24 with Prader-Willi syndrome and 20 with Williams syndrome. In highly compliant young adults, motion correlated with functional connectivity measurements showing a system-specific anatomy involving the sensorimotor cortex, visual areas and default mode network. Further characterization was strongly indicative of these changes expressing genuine neural activity related to motion, as opposed to pure motion artifact. In the populations with larger head motion, results were more indicative of widespread artifacts, but showing notably distinct spatial distribution patterns. Group-level regression of motion effects was efficient in removing both generalized changes and changes putatively related to neural activity. Overall, this study endorses a relatively simple approach for mapping distinct effects of head motion on functional connectivity. Importantly, our findings support the intriguing hypothesis that a component of motion-related changes may reflect system-specific neural activity.
[Does the city make us ill? The effect of urban stress on emotions, behavior, and mental health].
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2020

Urban life correlates with a higher risk for several mental diseases. A stress-dependent pathomechanism is considered to play a crucial role. Likewise, current data indicate a higher responsivity of the brain to social stress in urban residents. At the same time, city dwellers live under more advantageous conditions, encountering better access to education, personal evolvement, healthcare, and cultural diversity. It can be assumed that a higher exposition to chronic social stress in urban areas - in combination with other risk factors (social, psychological, or genetic) - can turn into a pathogenic factor, particularly in the case of impeded access to resilience-promoting resources of the city. It urgently remains to be explained which social groups are at increased risk and which urban planning and political measures to counteract social stress prove to be health protective. Therefore, we call for an interdisciplinary research approach, which incorporates urban research, medicine, and neuroscience and encourages a transdisciplinary knowledge exchange with politics, civil society, and citizens. With regard to the rapid pace of urbanization worldwide, further research and action is urgently required.
Pharmacotherapy of Sexual Addiction.
Current psychiatry reports, 2020

We reviewed recent data on sexual addiction and its treatment. We examined the different definitions of this disorder, related to the pathophysiological mechanisms. We addressed the pharmacological treatment of sexual addiction.