rudyvdbrink/CitationDatabase huggingface dataset:
The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents.
The Journal of physiology, 2020

Loss-of-function mutations in proteins found at glycinergic synapses, most commonly in the α1 subunit of the glycine receptor (GlyR), cause the startle disease/hyperekplexia channelopathy in man. It was recently proposed that the receptors responsible are presynaptic homomeric GlyRs, rather than postsynaptic heteromeric GlyRs (which mediate glycinergic synaptic transmission), because heteromeric GlyRs are less affected by many startle mutations than homomers. We examined the α1 startle mutation S270T, at the extracellular end of the M2 transmembrane helix. Recombinant heteromeric GlyRs were less impaired than homomers by this mutation when we measured their response to equilibrium applications of glycine. However, currents elicited by synaptic-like millisecond applications of glycine to outside-out patches were much shorter (7- to 10-fold) in all mutant receptors, both homomeric and heteromeric. Thus, the synaptic function of heteromeric receptors is likely to be impaired by the mutation.
Infection caused by Sporothrix schenckii: an autochthonous case in Bari, Southern Italy.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology, 2020

An autochthonous case of lymphocutaneous sporotrichosis caused by Sporothrix schenckii is reported. The patient developed skin lesions localized along the lymphatics that appeared after he suffered an injury while collecting wicker canes in marshy water. The fungus was identified as Sporothrix schenckii by MALDI-TOF and sequencing. Phylogenetic analysis was also performed. Low MIC values were detected for all tested echinocandins and azoles except for fluconazole. The patient was treated with itraconazole without significant improvement. A regression of lesions was observed after 3 months of therapy with voriconazole. Few cases of sporotrichosis have been reported in Europe. However, several cases of sporotrichosis have been described in Italy. The incidence of sporotrichosis in Italy may be underestimated and microbiologists, and clinicians must be aware of this fungal infection.
The Role of Propionibacterium acnes in the Pathogenesis of Sarcoidosis and Ulcerative Colitis: How This Connection May Inspire Novel Management of These Conditions.
Cureus, 2020

A lesser-acknowledged role of Propionibacterium acnes is its effect on the development of sarcoidosis. This literature review not only further explores this association but also that of Propionibacterium acnes and other inflammatory conditions, such as ulcerative colitis and pyoderma gangrenosum, acne, ulcerative colitis syndrome (PAC syndrome). This article reviews the effect that isotretinoin, a commonly used treatment of acne, has on the pathogenesis of ulcerative colitis, and the immune dysregulation and genetic susceptibility of individuals prone to developing acne, sarcoidosis, and ulcerative colitis. Literature for this article review was obtained from PubMed by utilizing both regular keywords and medical subject heading (MeSH) subheadings for data gathering. Regular keywords were: Propionibacterium acnes, sarcoidosis, ulcerative colitis, and isotretinoin. MeSH subheadings used were: Propionibacterium acnes/immunology, Propionibacterium acnes/pathogenicity, Propionibacterium acnes/genetics, sarcoidosis/immunology, and sarcoidosis/genetics. Following the application of inclusion and exclusion criteria, a total of 5172 publications were obtained. A total of 5086 publications were removed due to a lack of relevancy to outcomes of interest. The remaining 86 publications from all the regular and MeSH keywords were selected due to relevancy to outcomes of interest. Following this, a refined manual search was done, with the removal of duplicates, and 33 publications from PubMed were selected for review. Following a review of these records, Propionibacterium acnes was repeatedly concluded to be a causative agent of sarcoidosis. Variable results for the association between Propionibacterium acnes and ulcerative colitis were found. Most studies showed no significant association between the use of isotretinoin and the development of ulcerative colitis. A strong overlapping role of genetic susceptibility and immune dysregulation in the pathogeneses of sarcoidosis, ulcerative colitis, and Propionibacterium acnes was found.
Safety of Transcranial Direct Current Stimulation of Frontal, Parietal, and Cerebellar Regions in Fasting Healthy Adults.
Behavioral sciences (Basel, Switzerland), 2018

(1) Background: Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation modality that has been investigated in a large number of studies in terms of it is effects on brain function, safety of use, and future implications. The principal aim of this study was to investigate the safety of 1.5-mA tDCS of three brain areas, that is, frontal, partial, and cerebellar cortices, in fasting healthy individuals during the month of Ramadan. (2) Methods: In a single-blinded, sham-controlled study, we assessed the safety of a 20-min tDCS current (1.5 mA, 35 cm²) over the right frontal, parietal, and cerebellar cortex areas after 8 h of fasting in healthy right-handed adult subjects using a standard safety questionnaire. (3) Results: A total of 49 subjects completed the tDCS sessions and safety questionnaire. None of the sessions were stopped due to pain or discomfort during stimulation. Moreover, no subject experienced serious adverse events such as seizures or loss of consciousness. (4) Conclusions: There was no significant difference in the frequency or type of side effects between active and sham stimulation sessions. The tDCS protocol applied in this study was found to be safe in fasting healthy adults.
Slow presynaptic mechanisms that mediate adaptation in the olfactory pathway of 
eLife, 2019

The olfactory system encodes odor stimuli as combinatorial activity of populations of neurons whose response depends on stimulus history. How and on which timescales previous stimuli affect these combinatorial representations remains unclear. We use in vivo optical imaging in
Drug repositioning for treatment-resistant depression: Hypotheses from a pharmacogenomic study.
Progress in neuro-psychopharmacology & biological psychiatry, 2021

About 20-30% of patients with major depressive disorder (MDD) develop treatment-resistant depression (TRD) and finding new effective treatments for TRD has been a challenge. This study aimed to identify new possible pharmacological options for TRD. Genes in pathways included in predictive models of TRD in a previous whole exome sequence study were compared with those coding for targets of drugs in any phase of development, nutraceuticals, proteins and peptides from Drug repurposing Hub, Drug-Gene Interaction database and DrugBank database. We tested if known gene targets were enriched in TRD-associated genes by a hypergeometric test. Compounds enriched in TRD-associated genes after false-discovery rate (FDR) correction were annotated and compared with those showing enrichment in genes associated with MDD in the last Psychiatric Genomics Consortium genome-wide association study. Among a total of 15,475 compounds, 542 were enriched in TRD-associated genes (FDR p < .05). Significant results included drugs which are currently used in TRD (e.g. lithium and ketamine), confirming the rationale of this approach. Interesting molecules included modulators of inflammation, renin-angiotensin system, proliferator-activated receptor agonists, glycogen synthase kinase 3 beta inhibitors and the rho associated kinase inhibitor fasudil. Nutraceuticals, mostly antioxidant polyphenols, were also identified. Drugs showing enrichment for TRD-associated genes had a higher probability of enrichment for MDD-associated genes compared to those having no TRD-genes enrichment (p = 6.21e-55). This study suggested new potential treatments for TRD using a in silico approach. These analyses are exploratory only but can contribute to the identification of drugs to study in future clinical trials.
Reported child awareness of parental depression.
Psychiatric bulletin (2014), 2014

Aims and method To determine rates of parent-reported child awareness of parental depression, examine characteristics of parents, children and families according to child awareness, and explore whether child awareness is associated with child psychopathology. Data were available from 271 families participating in the Early Prediction of Adolescent Depression (EPAD) study, a longitudinal study of offspring of parents with recurrent depression. Results Seventy-three per cent of participating children were perceived as being aware of their parent's depression. Older children, and children of parents who experienced more severe depression, were more likely to be aware. Awareness was not associated with child psychopathology. Clinical implications Considering children in the context of parental depression is important. Child awareness may influence their access to early intervention and prevention programmes. Further research is needed to understand the impact of awareness on the child.
New Sensor and Wearable Technologies to Aid in the Diagnosis and Treatment Monitoring of Parkinson's Disease.
Annual review of biomedical engineering, 2019

Parkinson's disease (PD) is a degenerative disorder of the brain characterized by the impairment of the nigrostriatal system. This impairment leads to specific motor manifestations (i.e., bradykinesia, tremor, and rigidity) that are assessed through clinical examination, scales, and patient-reported outcomes. New sensor-based and wearable technologies are progressively revolutionizing PD care by objectively measuring these manifestations and improving PD diagnosis and treatment monitoring. However, their use is still limited in clinical practice, perhaps because of the absence of external validation and standards for their continuous use at home. In the near future, these systems will progressively complement traditional tools and revolutionize the way we diagnose and monitor patients with PD.
Giant Cerebellar Cavernomas in Pediatric Patients: Systematic Review with Illustrative Case.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association, 2020

Giant cavernomas (GCMs) are angiographically occult vascular malformations of the central nervous system measuring at least 4 cm in diameter. These are rare lesions, especially in the cerebellum. As such, the clinical and radiologic features, surgical management, and outcomes of treatment for this condition are unknown.
MD-PhD graduates remain underrepresented in orthopaedic surgery: National MD-PhD Program Outcome Survey update.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society, 2020

With the dramatic expansion of the biomedical knowledge base and increasing demands for evidence-based medicine, the role of the clinician-scientist is becoming increasingly important. In orthopaedic surgery, clinician-scientists are at the forefront of translational efforts to address the growing burden of musculoskeletal disease, yet MD-PhD trained investigators have historically been underrepresented in this field. Here, we examine the trend, over time, of MD-PhD graduates pursuing orthopaedic surgery, compared with other specialties. Survey data from the 2018 Association of American Medical Colleges National MD-PhD Program Outcomes Study, including data on 4,647 individuals who had completed residency training and 2,124 who were still in training, were reanalyzed. Numbers, proportions, workplace choice, and percent research effort of MD-PhD graduates completing orthopaedic surgery were compared with other surgical and nonsurgical specialties. Trends over time were analyzed by linear regression. While a decreasing proportion of MD-PhD graduates completed internal medicine training, just 1.1% of MD-PhD graduates completed orthopaedic surgery training, lower than that of all other surgical specialties. The proportion of MD-PhD graduates completing orthopaedic surgery has not increased over time and was mirrored in MD-PhD residents still in training. Though MD-PhDs are increasingly choosing to pursue "nontraditional" specialties, they remain underrepresented in orthopaedic surgery, compared with other clinical disciplines. Thus, there exists an opportunity to encourage MD-PhD graduates to pursue careers in orthopaedic surgery, to supplement the existing intellectual capital in the orthopaedic science workforce. This, along with other strategies to support all orthopaedic surgeon-scientists, will ultimately advance the care of musculoskeletal diseases.
Striatal connectivity in pre-manifest Huntington's disease is differentially affected by disease burden.
European journal of neurology, 2020

Different amounts of cumulative exposure to the toxic mutant form of the huntingtin protein might underlie the distinctive pattern of striatal connectivity in pre-manifest Huntington's disease (pre-HD). The aim of this study was to investigate disease-burden-dependent cortical-striatal and subcortical-striatal loops at different pre-HD stages.
Effects of optogenetic activation of the enteric nervous system on gastrointestinal motility in mouse small intestine.
Autonomic neuroscience : basic & clinical, 2020

Recently, it was demonstrated that optogenetics could be used to stimulate enteric calretinin neurons, leading to increased colonic transit in vitro and in vivo. The aim of the current study was to determine if similar approaches could be used to stimulate the isolated mouse small intestine, with the aim of potentially also improving transit in the small bowel.
Impact of Cognitive Reserve and Premorbid IQ on Cognitive and Functional Status in Older Outpatients.
Brain sciences, 2021

The study aimed to investigate cross-sectionally the associations of cognitive reserve (CR) and premorbid IQ with cognitive and functional status in a cohort of older outpatients. Additionally, we evaluated the association of CR and premorbid IQ with the worsening of patients' cognitive status at one-year follow-up. We originally included 141 outpatients (mean age 80.31 years); a telephone-based cognitive follow-up was carried out after one year, including 104 subjects (mean age 80.26 years). CR (β = 0.418), premorbid IQ (β = 0.271) and handgrip strength (β = 0.287) were significantly associated with the MMSE score. The cognitive worsening at follow-up was associated with lower CR, lower MMSE score, reduced gait speed and frailty exhibited at baseline. Univariate linear regressions showed that CR was associated with handgrip strength (β = 0.346), gait speed (β = 0.185), autonomy in basic (β = 0.221) and instrumental (β = 0.272) daily activities, and frailty (β = -0.290); premorbid IQ was significantly associated with autonomy in instrumental daily activities (β = 0.211). These findings highlight the need for integrating CR and premorbid IQ with physical and motor measures when appraising predictors of cognitive decline in the elderly population. The study also newly extends the link of CR and premorbid IQ to the functional status in older adults.
Compliance to the Alcohol Law: Overserving to Obviously Intoxicated Visitors at Music Festivals.
International journal of environmental research and public health, 2020

Music festivals are often high-risk settings associated with large numbers of visitors and high alcohol intoxication levels, which contribute to a number of public health-related problems. According to the Swedish Alcohol Act, servers are responsible for not overserving alcohol to obviously intoxicated patrons. The aim of the current study was to examine compliance to the Swedish Alcohol Act at music festivals by assessing the rate of alcohol overserving to festival-goers. We conducted a study at a large music festival in Sweden hosting approximately 50,000 visitors. Professional actors, i.e., pseudo-patrons, enacted a standardized scene in which a highly intoxicated festival-goer attempted to buy beer at licensed premises inside the festival. Observers monitored each attempt. A total of 52 purchase attempts were conducted. The rate of overserving was 26.9% and was not influenced by the server's gender, the number of servers, or the level of crowdedness at the bar area. Overserving differed between server age groups, which was not statistically significant when controlling for other factors. Compliance to the Alcohol Act at the festival can be improved. Intoxication levels and related problems can be reduced by implementing a multicomponent intervention including staff training, policy work, and improved enforcement.
A missing link between depression models: Forced swimming test, helplessness and passive coping in genetically heterogeneous NIH-HS rats.
Behavioural processes, 2020

The forced swimming test (FST) and helplessness reactions at two-way active escape/avoidance task are used in the study of depressive-like symptoms and antidepressant treatments in rodents. In both tests/tasks the animals are submitted to stressful situations, known to induce several responses that have been considered as parallels of some symptoms of the human depressive disorder. However, there is a lack of experimental evidence supporting associations between the behavioral responses displayed in both behavioral procedures by outbred rats. The objective of the present study was to evaluate the possible associations between the behavioral responses in both depression models using the National Institutes of Health genetically heterogeneous rat stock (i.e. NIH-HS rats). To this aim, 97 NIH-HS rats were submitted to both behavioral procedures (FST and two-way active escape task under a fixed ratio 2 - FR2). The statistical analyses comparing the sub-groups of rats selected by their high or low behavioral responses in either the FST or the FR2 helplessness task showed associations between the responses evaluated in both tests. Specifically, higher levels of struggling (i.e. vigorous swimming directed to escape from the FST) or less time of immobility in the first session of FST predicted lesser response failures in the FR2 two-way active escape (helplessness) task. In parallel, the stratification of rats for their high or low scores of response failures in the FR2 task was predictive of their levels of struggling in the FST. Thus, it is demonstrated for the first time that passive coping responses in one test are predictive of similar coping styles in the other task. The present findings may be relevant for the concurrent validity of both depression models.
Biomarker study of the biological parameter and neurotransmitter levels in autistics.
Molecular and cellular biochemistry, 2020

Autism is a prevalent developmental disorder that combines repetitive behaviours, social deficits and language abnormalities. The present study aims to assess the autistic subjects using DSM IV-TR criteria followed with the analysis of neurotransmitters, biochemical parameters, oxidative stress and its ions in two groups of autistic subjects (group I < 12 years; group II ≥ 12 years). Antioxidants show a variation of 10% increase in controls compared to autistic age < 12 years. The concentration of pyruvate kinase and hexokinase is elevated in controls approximately 60% and 45%, respectively, with the significance of 95 and 99%. Autistic subjects showed marked variation in levels of neurotransmitters, oxidative stress and its related ions. Cumulative assessment of parameters related to biochemical markers and neurotransmitters paves the way for autism-based research, although these observations draw interest in an integrated approach for autism.
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
Neuromuscular disorders : NMD, 2021

Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes are involved. Sanger-based sequencing of a single gene is time-consuming, often expensive; thus, we designed a next-generation sequencing panel of 56 putative candidate genes for skeletal muscle channelopathies, codifying for proteins involved in excitability, excitation-contraction coupling, and metabolism of muscle fibres. We analyzed a large cohort of 109 Italian patients with a suspect of NDM or PP by next-generation sequencing. We identified 24 patients mutated in CLCN1 gene, 15 in SCN4A, 3 in both CLCN1 and SCN4A, 1 in ATP2A1, 1 in KCNA1 and 1 in CASQ1. Eight were novel mutations: p.G395Cfs*32, p.L843P, p.V829M, p.E258E and c.1471+4delTCAAGAC in CLCN1, p.K1302R in SCN4A, p.L208P in ATP2A1 and c.280-1G>C in CASQ1 genes. This study demonstrated the utility of targeted next generation sequencing approach in molecular diagnosis of skeletal muscle channelopathies and the importance of the collaboration between clinicians and molecular geneticists and additional methods for unclear variants to make a conclusive diagnosis.
Effects of some natural immunomodulatory compounds in combination with thalidomide on survival rate and tumor size in fibrosarcoma-bearing mice.
Advanced pharmaceutical bulletin, 2014

Despite significant advances have been achieved in cancer therapy, response to conventional treatments like surgery, radiotherapy and chemotherapy varies among individuals. Immunotherapy is known to be an effective strategy for patients who are resistant to the currently available interventions.
Clostridium difficile infection and risk of Parkinson's disease: a Swedish population-based cohort study.
European journal of neurology, 2020

Gastrointestinal inflammation has been implicated in Parkinson's disease (PD). The aim of this study was to examine whether individuals with a history of Clostridium difficile infection (CDI) are at elevated risk of PD.
Convergent patterns of structural brain changes in rapid eye movement sleep behavior disorder and Parkinson's disease on behalf of the German rapid eye movement sleep behavior disorder study group.
Sleep, 2021

Rapid eye movement sleep behavior disorder (RBD) is considered a prodromal state of Parkinson's disease (PD). We aimed to characterize patterns of structural brain changes in RBD and PD patients using multimodal MRI.
Cognitive and Neurologic Rehabilitation Strategies for Central Nervous System HIV Infection.
Current HIV/AIDS reports, 2020

Cognitive impairment leading to disability is increasingly seen in people living with human immunodeficiency virus (PLWH). Rehabilitation can alleviate the effects of cognitive impairment upon function. The aim of this paper is to discuss the strategies that have been used in cognitive and neurologic rehabilitation in PLWH.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021

Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit.