rudyvdbrink/CitationDatabase huggingface dataset:
Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate.
Cerebellum (London, England), 2020

Immune-mediated ataxias account for a substantial number of sporadic otherwise idiopathic ataxias. Despite some well-characterised entities such as paraneoplastic cerebellar degeneration where diagnostic markers exist, the majority of immune ataxias remained undiagnosed and untreated. We present here our experience in the treatment of suspected primary autoimmune cerebellar ataxia (PACA) using mycophenolate. All patients reported attend the Sheffield Ataxia Centre on a regular basis and had undergone extensive investigations, including genetic testing using next-generation sequencing, with other causes of ataxia excluded. The diagnosis of PACA was strongly suspected based on investigations, pattern of disease progression, and cerebellar involvement. Patients were treated with mycophenolate and monitored using MR spectroscopy of the cerebellar vermis. Thirty patients with PACA are reported here. Of these, 22 received mycophenolate (group 1). The remaining 8 were not on treatment (group 2-control group). Out of the 22 treated patients, 4 underwent serial MR spectroscopy prior to starting treatment and thus were used as controls making the total number of patients in the control group 12. The mean change of the MRS within the vermis (NAA/Cr area ratio) in the treatment group was + 0.144 ± 0.09 (improved) and in the untreated group - 0.155 ± 0.06 (deteriorated). The difference was significant. We also demonstrated a strong correlation between the spectroscopy and the SARA score. We have demonstrated the effectiveness of mycophenolate in the treatment of PACA. The results suggest that immune-mediated ataxias are potentially treatable, and that there is a need for early diagnosis to prevent permanent neurological deficit. The recently published diagnostic criteria for PACA would hopefully aid the diagnosis and treatment of this entity.
Integrative Comparative Cognition: Can Neurobiology and Neurogenomics Inform Comparative Analyses of Cognitive Phenotype?
Integrative and comparative biology, 2020

A long-standing question in animal behavior is what are the patterns and processes that shape the evolution of cognition? One effective way to address this question is to study cognitive abilities in a broad spectrum of animals. While comparative psychologists have traditionally focused on a narrow range of organisms, today they may work with any number of species, from frogs to birds or bees. This broader range of study species has greatly enriched our understanding of the diversity of cognitive processes among animals. Yet, this diversity has highlighted the fundamental challenge of comparing cognitive processes across animals. An analysis of the neural and molecular mechanisms of cognition may be necessary to solve this problem. The goal of our symposium was to bring together speakers studying a range of species to gain a broadly integrative perspective on cognition while at the same time considering the potentially important role of neurobiology and genomics in addressing the difficult problem of comparing cognition across species. For example, work by MaBouDi et al. indicates that neural constraints on computing power may impact the cognitive processes underlying numerical discrimination in bees. A presentation by Lara LaDage demonstrated how neurobiology can be used to better understand cognition and its evolution in reptiles while Edwards et al. identify the cerebellum as potentially important in the performance of the complex process of nest building. We see that molecular approaches highlight the contributions of the prefrontal cortex and hippocampus to cognitive phenotype across vertebrates while, at the same time, identifying the genes and cellular processes that may contribute to evolution of cognition. The potentially important role of neurogenesis and synaptic plasticity emerge clearly from such studies. Still unanswered is the question of whether molecular tools will contribute to our ability to discriminate convergent/parallel evolution from homology in the evolution of cognitive phenotype.
Katayama et Al.: therapeutic window of lamotrigine for mood disorders: a naturalistic retrospective study. Pharmacopsychiatry 2014; 47: 111-114.
Pharmacopsychiatry, 2014

Katayama and colleagues proposed in their article a therapeutic window for lamotrigine in affective disorders between 5 and 11 μg/mL. Despite potential differences in lamotrigine metabolism, the results of their retrospective study in a Japanese population match nicely with what we have previously reported in a Caucasian population with rapid cycling bipolar disorder. It is suggested that not only in epilepsy, but also in mood-disordered patients clinicians should rather consider lamotrigine plasma levels than dosage when in doubt about the efficacy of treatment.
Neurosurgical Procedures and Safety During the COVID-19 Pandemic: A Case-Control Multicenter Study.
World neurosurgery, 2020

Quantitative documentation of the effects of outbreaks, including the coronavirus disease 2019 (COVID-19) pandemic, is limited in neurosurgery. Our study aimed to evaluate the effects of the COVID-19 pandemic on neurosurgical practice and to determine whether surgical procedures are associated with increased morbidity and mortality.
Recovery of Impaired Endogenous Pain Modulation by Dopaminergic Medication in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society, 2020

Of patients with Parkinson's disease (PD), 30% to 85% report pain. However, mechanisms underlying this pain remain unclear. In line with known neuroanatomical impairments, we hypothesized that pain in PD is caused by alterations in emotional-motivational as opposed to sensory-discriminative pain processing and that dopamine recovers the capacity for endogenous emotional-motivational pain modulation in patients with PD.
Unto the third generation: evidence for strong familial aggregation of physicians, psychologists, and psychotherapists among first-year medical and psychology students in a nationwide Austrian cohort census.
BMC medical education, 2017

Medical students present higher numbers of physician relatives than expectable from the total population prevalence of physicians. Evidence for such a familial aggregation effect of physicians has emerged in investigations from the Anglo-American, Scandinavian, and German-speaking areas. In particular, past data from Austria suggest a familial aggregation of the medical, as well as of the psychological and psychotherapeutic, professions among medical and psychology undergraduates alike. Here, we extend prior related studies by examining (1) the extent to which familial aggregation effects apply to the whole nation-wide student census of all relevant (eight) public universities in Austria; (2) whether effects are comparable for medical and psychology students; (3) and whether these effects generalize to relatives of three interrelated health professions (medicine, psychology, and psychotherapy).
[Somatization].
Recenti progressi in medicina, 2019

Functional disorders that we observe neurologically primarily pose terminology problems: some of them such as migraine, narcolepsy, restless legs syndrome have a recognized nosographic status, although without demonstrable lesions; others are interpreted only as somatic manifestations of psychic conflicts. There is also the risk that the "functional" diagnosis masks - as prejudice - lesional pathologies not adequately investigated with the available technology, leading to serious clinical errors. Moreover, even in presence of a probable psychogenic disorder, patients tend to reject the "functional" diagnosis, for cultural reasons linked to the old philosophical separation between diseases of the body and mind (the latter with a "lower" status). The current evolution of neuroscience should lead us to the conclusion that all so-called "functional" disorders are manifestations of cerebral suffering; at the same time an existential approach to the disease must make us wary of reductionist conclusions, because the clinical expression of a lesion is in the great majority of cases modulated by the culture and the history of the patient.
Perils of using speed zone data to assess real-world compliance to speed limits.
Traffic injury prevention, 2017

Real-world driving studies, including those involving speeding alert devices and autonomous vehicles, can gauge an individual vehicle's speeding behavior by comparing measured speed with mapped speed zone data. However, there are complexities with developing and maintaining a database of mapped speed zones over a large geographic area that may lead to inaccuracies within the data set. When this approach is applied to large-scale real-world driving data or speeding alert device data to determine speeding behavior, these inaccuracies may result in invalid identification of speeding. We investigated speeding events based on service provider speed zone data.
Impact of advance directives on the variability between intensivists in the decisions to forgo life-sustaining treatment.
Critical care (London, England), 2020

There is wide variability between intensivists in the decisions to forgo life-sustaining treatment (DFLST). Advance directives (ADs) allow patients to communicate their end-of-life wishes to physicians. We assessed whether ADs reduced variability in DFLSTs between intensivists.
Reciprocal connectivity of the periaqueductal gray with the ponto-medullary respiratory network in rat.
Brain research, 2021

Synaptic activities of the periaqueductal gray (PAG) can modulate or appropriate the respiratory motor activities in the context of behavior and emotion via descending projections to nucleus retroambiguus. However, alternative anatomical pathways for the mediation of PAG-evoked respiratory modulation via core nuclei of the brainstem respiratory network remains only partially described. We injected the retrograde tracer Cholera toxin subunit B (CT-B) in the pontine Kölliker-Fuse nucleus (KFn, n = 5), medullary Bötzinger (BötC, n = 3) and pre-Bötzinger complexes (pre-BötC; n = 3), and the caudal raphé nuclei (n = 3), and quantified the descending connectivity of the PAG targeting these brainstem respiratory regions. CT-B injections in the KFn, pre-BötC, and caudal raphé, but not in the BötC, resulted in CT-B-labeled neurons that were predominantly located in the lateral and ventrolateral PAG columns. In turn, CT-B injections in the lateral and ventrolateral PAG columns (n = 4) produced the highest numbers of CT-B-labeled neurons in the KFn and far fewer numbers of labeled neurons in the pre-BötC, BötC, and caudal raphé. Analysis of the relative projection strength revealed that the KFn shares the densest reciprocal connectivity with the PAG (ventrolateral and lateral columns, in particular). Overall, our data imply that the PAG may engage a distributed respiratory rhythm and pattern generating network beyond the nucleus retroambiguus to mediate downstream modulation of breathing. However, the reciprocal connectivity of the KFn and PAG suggests specific roles for synaptic interaction between these two nuclei that are most likely related to the regulation of upper airway patency during vocalization or other volitional orofacial behaviors.
Conceptus numbers do not affect blood concentrations of relaxin in the rabbit.
Annals of the New York Academy of Sciences, 2009

On day 18 of pregnancy, conceptuses were surgically removed in order that rabbits would be left with seven, five, three, or one conceptus. During pregnancy, blood concentrations of relaxin were determined by radioimmunoassay. There was no difference between relaxin concentrations in rabbits carrying one versus seven conceptuses. The results indicate that conceptus number does not influence the blood concentration of relaxin in the rabbit.
Cauda equina aspergilloma in an immunocompetent individual: A case report.
Journal of craniovertebral junction & spine, 2013

The authors report an unusual case involving a 70 year old man who came with severe low back pain radiating to both legs, magnetic resonance imaging (MRI) lumbosacral spine reveled nodular spinal intradural lesions involving Cauda equina for which he was operated. Histopathological examination of the operative specimen revealed large granulomas with multinucleate giant cells lining zones of necrosis and within the granuloma numerous septate branching hyphae of Apsergillus spp highlighted by Gomori methenamine silver stains which was suggestive of aspergillosis. There is no reported case of Cauda equina aspergilloma in an apparently immunocompetent person before this.
Leukemia Inhibitory Factor Participates in the Formation of Stress Adaptation via Hippocampal Myelination in Mice.
Neuroscience, 2020

Leukemia inhibitory factor (LIF) has been shown to be involved in myelination. The present study investigated whether LIF plays a significant role in the formation of stress adaptation using stress-adaptive and -maladaptive mice, and also attempted to confirm whether there was any difference in myelination between these animal models. A single exposure to restraint stress for 1 h induced a decrease in head-dipping behavior in the hole-board test. This stress response was not seen in mice that had been exposed to restraint stress for 1 h/day for 14 days, which is referred to as stress adaptation. In contrast, repeated exposure to restraint stress for 4 h/day for 14 days did not lead to the development of stress adaptation, and was still associated with a decrease in head-dipping behaviors. Under these conditions, LIF protein was found to be increased with astrocyte activation in the hippocampus of stress-adaptive mice, whereas no change was observed in stress-maladaptive mice. On the other hand, major myelin proteins including myelin-associated glycoprotein and myelin basic protein, as well as mature oligodendrocytes, were decreased in the hippocampus of stress-maladaptive, but not stress-adaptive, mice. Furthermore, while the levels of phosphorylated-extracellular signal-regulated kinase (p-ERK) were increased in the hippocampus of stress-adaptive, this change did not occur in stress-maladaptive mice. Taken together, the present findings suggest that LIF, which may be derived from activated astrocytes, plays a critical role in the maintenance of hippocampal myelination via an ERK signaling pathway, and contributes to the development of stress adaptation.
Secondary transfer of emergency stroke patients eligible for mechanical thrombectomy by air in rural England: economic evaluation and considerations.
Emergency medicine journal : EMJ, 2021

Mechanical thrombectomy (MT) is a time-sensitive emergency procedure for patients who had ischaemic stroke leading to improved health outcomes. Health systems need to ensure that MT is delivered to as many patients as quickly as possible. Using decision modelling, we aimed to evaluate the cost-effectiveness of secondary transfer by helicopter emergency medical services (HEMS) compared with ground emergency medical services (GEMS) of rural patients eligible for MT in England.
Farewell to Professor David Yaffe - A pillar of the myogenesis field.
European journal of translational myology, 2020

It is with great sadness that we have learned about the passing of Professor David Yaffe (1929-2020, Israel). Yehi Zichro Baruch - May his memory be a blessing. David was a man of family, science and nature. A native of Israel, David grew up in the historic years that preceded the birth of the State of Israel. He was a member of the group that established Kibbutz Revivim in the Negev desert, and in 1948 participated in Israel's War of Independence. David and Ruth eventually joined Kibbutz Givat Brenner by Rehovot, permitting David to be both a kibbutz member and a life-long researcher at the Weizmann Institute of Science, where David received his PhD in 1959. David returned to the Institute after his postdoc at Stanford. Here, after several years of researching a number of tissues as models for studying the process of differentiation, David entered the myogenesis field and stayed with it to his last day. With his dedication to the field of myogenesis and his commitment to furthering the understanding of the People and the Land of Israel throughout the international scientific community, David organized the first ever myogenesis meeting that took place in Shoresh, Israel in 1975. This was followed by the 1980 myogenesis meeting at the same place and many more outstanding meetings, all of which brought together myogenesis, nature and scenery. Herein, through the preparation and publication of this current manuscript, we are meeting once again at a "David Yaffe myogenesis meeting". Some of us have been members of the Yaffe lab, some of us have known David as his national and international colleagues in the myology field. One of our contributors has also known (and communicates here) about David Yaffe's earlier years as a kibbutznick in the Negev. Our collective reflections are a tribute to Professor David Yaffe. We are fortunate that the European Journal of Translational Myology has provided us with tremendous input and a platform for holding this 2020 distance meeting "Farwell to Professor David Yaffe - A Pillar of the Myogenesis Field".
Dual-Modified Liposome for Targeted and Enhanced Gene Delivery into Mice Brain.
The Journal of pharmacology and experimental therapeutics, 2020

The development of neuropharmaceutical gene delivery systems requires strategies to obtain efficient and effective brain targeting as well as blood-brain barrier (BBB) permeability. A brain-targeted gene delivery system based on a transferrin (Tf) and cell-penetrating peptide (CPP) dual-functionalized liposome, CPP-Tf-liposome, was designed and investigated for crossing BBB and permeating into the brain. We selected three sequences of CPPs [melittin, Kaposi fibroblast growth factor (kFGF), and penetration accelerating sequence-R8] and compared their ability to internalize into the cells and, subsequently, improve the transfection efficiency. Study of intracellular uptake indicated that liposomal penetration into bEnd.3 cells, primary astrocytes, and primary neurons occurred through multiple endocytosis pathways and surface modification with Tf and CPP enhanced the transfection efficiency of the nanoparticles. A coculture in vitro BBB model reproducing the in vivo anatomophysiological complexity of the biologic barrier was developed to characterize the penetrating properties of these designed liposomes. The dual-functionalized liposomes effectively crossed the in vitro barrier model followed by transfecting primary neurons. Liposome tissue distribution in vivo indicated superior ability of kFGF-Tf-liposomes to overcome BBB and reach brain of the mice after single intravenous administration. These findings demonstrate the feasibility of using strategically designed liposomes by combining Tf receptor targeting with enhanced cell penetration as a potential brain gene delivery vector. SIGNIFICANCE STATEMENT: Rational synthesis of efficient brain-targeted gene carrier included modification of liposomes with a target-specific ligand, transferrin, and with cell-penetrating peptide to enhance cellular internalization. Our study used an in vitro triple coculture blood-brain barrier (BBB) model as a tool to characterize the permeability across BBB and functionality of designed liposomes prior to in vivo biodistribution studies. Our study demonstrated that rational design and characterization of BBB permeability are efficient strategies for development of brain-targeted gene carriers.
Novel mutation of the notch3 gene in arabic family with CADASIL.
Neurology international, 2011

Mutations in the NOTCH3 gene are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult onset hereditary angiopathy leading to ischemic stroke, vascular dementia and psychiatric disorders. All mutation of NOTCH3 described so far are striking stereotyped leading to the gain or loss of cystiene residue in a given epidermal growth factor (EGF), like repeat. We report an Arabic family affected with CADASIL mutation, G1790 C, in Exon 11 of the NOTCH3 gene. This is the first novel mutation reported in Arabic CADASIL patients. This finding confirms that mutations in NOTCH3 are associated with the pathogenesis of CADASIL across different ethnic background.
Age-Related Hearing Loss Is Dominated by Damage to Inner Ear Sensory Cells, Not the Cellular Battery That Powers Them.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2020

Age-related hearing loss arises from irreversible damage in the inner ear, where sound is transduced into electrical signals. Prior human studies suggested that sensory-cell loss is rarely the cause; correspondingly, animal work has implicated the stria vascularis, the cellular "battery" driving the amplification of sound by hair cell "motors." Here, quantitative microscopic analysis of hair cells, auditory nerve fibers, and strial tissues in 120 human inner ears obtained at autopsy, most of whom had recent audiograms in their medical records, shows that the degree of hearing loss is well predicted from the amount of hair cell loss and that inclusion of strial damage does not improve the prediction. Although many aging ears showed significant strial degeneration throughout the cochlea, our statistical models suggest that, by the time strial tissues are lost, hair cell death is so extensive that the loss of battery is no longer important to pure-tone thresholds and that audiogram slope is not diagnostic for strial degeneration. These data comprise the first quantitative survey of hair cell death in normal-aging human cochleas, and reveal unexpectedly severe hair cell loss in low-frequency cochlear regions, and dramatically greater loss in high-frequency regions than seen in any aging animal model. Comparison of normal-aging ears to an age-matched group with acoustic-overexposure history suggests that a lifetime of acoustic overexposure is to blame.
ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus.
Development (Cambridge, England), 2020

The choroid plexus (ChP) is a secretory tissue that produces cerebrospinal fluid (CSF) secreted into the ventricular system. It is a monolayer of secretory, multiciliated epithelial cells derived from neuroepithelial progenitors and overlying a stroma of mesenchymal cells of mesodermal origin.
Hiding Within the Cracks: Case Report of Rare Sutural Bone Found at the Nasion.
Cureus, 2017

Pathology such as skull fractures can be misdiagnosed in the presence of anatomical variations. One variant that has had little description in the literature are the sutural bones associated with the nasal bones. Herein, we describe a case of a rare sutural bone at the nasion, between the bones of the right nasal, frontal, and maxillary frontal process. To our knowledge, this is the first report of such a variant bone in this location, and such it should be considered by clinicians when evaluating patients for pathology in this region.