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2.
BMC Neurol ; 24(1): 14, 2024 Jan 02.
Article in English | MEDLINE | ID: mdl-38166838

ABSTRACT

BACKGROUND: Dilated perivascular spaces (DPVS), known as one of imaging markers in cerebral small vessel disease, may be found in patients with moyamoya disease (MMD). However, little is known about DPVS in MMD. The purpose of this study was to investigate the distribution pattern of dPVS in children and adults with MMD and determine whether it is related to steno-occlusive changes of MMD. METHODS: DPVS was scored in basal ganglia (BG) and white matter (WM) on T2-weighted imaging, using a validated 4-point semi-quantitative score. The degree of dPVS was classified as high (score > 2) or low (score ≤ 2) grade. The steno-occlusive changes on MR angiography (MRA) was scored using a validated MRA grading. Asymmetry of DPVS and MRA grading was defined as a difference of 1 grade or higher between hemispheres. RESULTS: Fifty-one patients with MMD (mean age 24.9 ± 21.1 years) were included. Forty-five (88.2%) patients had high WM-DPVS grade (degree 3 or 4). BG-DPVS was found in 72.5% of all patients and all were low grade (degree 1 or 2). The distribution patterns of DPVS degree in BG (P = 1.000) and WM (P = 0.767) were not different between child and adult groups. The asymmetry of WM-DPVS (26%) and MRA grade (42%) were significantly correlated to each other (Kendall's tau-b = 0.604, P < 0.001). CONCLUSIONS: DPVS of high grade in MMD is predominantly found in WM, which was not different between children and adults. The correlation between asymmetry of WM-DPVS degree and MRA grade suggests that weak cerebral artery pulsation due to steno-occlusive changes may affect WM-DPVS in MMD.


Subject(s)
Moyamoya Disease , White Matter , Adult , Child , Humans , Child, Preschool , Adolescent , Young Adult , Middle Aged , Moyamoya Disease/diagnostic imaging , Magnetic Resonance Angiography , Magnetic Resonance Imaging/methods , White Matter/diagnostic imaging
3.
Seizure ; 114: 1-8, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38007922

ABSTRACT

BACKGROUND: Epilepsy is a neurological condition marked by frequent seizures and various cognitive and psychological effects. Reliable information is essential for effective treatment. Natural language processing models like ChatGPT are increasingly used in healthcare for information access and data analysis, making it crucial to assess their accuracy. OBJECTIVE: This study aimed to investigate the accuracy of ChatGPT in providing educational information related to epilepsy. METHODS: We compared the answers from ChatGPT-4 and ChatGPT-3.5 to 57 common epilepsy questions based on the Korean Epilepsy Society's "Epilepsy Patient and Caregiver Guide." Two epileptologists reviewed the responses, with a third serving as an arbiter in cases of disagreement. RESULTS: Out of 57 questions, 40 responses from ChatGPT-4 had "sufficient educational value," 16 were "correct but inadequate," and one was "mixed with correct and incorrect" information. No answers were entirely incorrect. GPT-4 generally outperformed GPT-3.5 and was often on par with or better than the official guide. CONCLUSIONS: ChatGPT-4 shows promise as a tool for delivering reliable epilepsy-related information and could help alleviate the educational burden on healthcare professionals. Further research is needed to explore the benefits and limitations of using such models in medical contexts.


Subject(s)
Epilepsy , Natural Language Processing , Humans , Cross-Sectional Studies , Information Storage and Retrieval , Educational Status
4.
Nat Methods ; 20(7): 1025-1028, 2023 07.
Article in English | MEDLINE | ID: mdl-37264147

ABSTRACT

Characterizing multifaceted individual differences in brain function using neuroimaging is central to biomarker discovery in neuroscience. We provide an integrative toolbox, Reliability eXplorer (ReX), to facilitate the examination of individual variation and reliability as well as the effective direction for optimization of measuring individual differences in biomarker discovery. We also illustrate gradient flows, a two-dimensional field map-based approach to identifying and representing the most effective direction for optimization when measuring individual differences, which is implemented in ReX.


Subject(s)
Individuality , Neuroimaging , Reproducibility of Results , Biomarkers
5.
J Clin Med ; 12(4)2023 Feb 14.
Article in English | MEDLINE | ID: mdl-36836053

ABSTRACT

BACKGROUND: Currently, information on sleep and circadian patterns in relation to COVID-19 or vaccination remains limited. We aimed to investigate sleep and circadian patterns according to history of COVID-19 and COVID-19 vaccination side effects. METHODS: We used data from the National Sleep Survey of South Korea 2022, a nationwide cross-sectional population-based survey regarding sleep-wake behaviors and sleep problems among Korean adults. Analysis of covariance (ANCOVA) and logistic regression analyses were performed to explore the different sleep and circadian patterns according to the history of COVID-19 or self-reported side effects of the COVID-19 vaccination. RESULTS: The ANCOVA showed that individuals with a history of COVID-19 presented a later chronotype than individuals without a history of COVID-19. Individuals who had experienced vaccine-related side effects had a shorter sleep duration, poorer sleep efficiency, and worse insomnia severity. Multivariable logistic regression analysis showed a later chronotype related to COVID-19. A short sleep duration, poorer sleep efficiency, and worse insomnia severity were associated with self-reported side effects of the COVID-19 vaccination. CONCLUSIONS: Individuals who recovered from COVID-19 had a later chronotype than those without a history of COVID-19. Individuals who had experienced vaccine-related side effects presented with poorer sleep than those without side effects.

6.
Eur Neurol ; 85(3): 195-201, 2022.
Article in English | MEDLINE | ID: mdl-35100579

ABSTRACT

INTRODUCTION: The pathophysiology of migraine has been researched incessantly, and it has been suggested that calcitonin gene-related peptide (CGRP) is associated with migraine attacks. CGRP receptor blockers are attracting attention as potential agents for migraine prevention and treatment of acute episodes. This meta-analysis aimed to assess the effects of available CGRP receptor antagonists, focusing on their therapeutic doses for acute migraine treatment. METHODS: We systematically searched MEDLINE and Embase from inception to March 27, 2021, for English-language publications using the keywords "migraine" and "calcitonin gene-related peptide"; the searches were limited to human studies. RESULTS: Five studies that focused on examining the effects of CGRP receptor antagonists on acute migraine treatment met the eligibility criteria for this meta-analysis. A pooled analysis demonstrated that CGRP receptor antagonists significantly increased freedom from pain (odds ratio [OR] = 2.066, 95% confidence interval [CI] 1.766-2.418, I2 = 0%) and from bothersome symptoms in general (OR = 1.606, 95% CI = 1.408-1.830, I2 = 0%); reduced the intensity of pain (OR = 1.791, 95% CI = 1.598-2.008, I2 = 0%); and increased freedom from nausea (OR = 1.361, 95% CI = 1.196-1.548, I2 = 0%) compared to a placebo. CONCLUSIONS: CGRP receptor antagonists are effective for acute migraine treatment and are expected to be used clinically as emerging therapeutic agents.


Subject(s)
Calcitonin Gene-Related Peptide Receptor Antagonists , Migraine Disorders , Calcitonin Gene-Related Peptide/therapeutic use , Calcitonin Gene-Related Peptide Receptor Antagonists/pharmacology , Calcitonin Gene-Related Peptide Receptor Antagonists/therapeutic use , Humans , Migraine Disorders/drug therapy , Pain/drug therapy
7.
Medicine (Baltimore) ; 100(46): e27856, 2021 Nov 19.
Article in English | MEDLINE | ID: mdl-34797322

ABSTRACT

ABSTRACT: Three α-herpesviruses are known to be associated with central nervous system (CNS) infection; however, there are limited data on the incidence and clinical characteristics of α-herpesviruses CNS infections. This study aimed to assess the clinical manifestations, laboratory findings, and outcomes in patients with human herpes simplex virus 1 (HSV-1), human herpes simplex virus 2 (HSV-2), and varicella-zoster virus (VZV) CNS infections.We identified cases of HSV-1, HSV-2, and VZV CNS infections and reviewed their clinical and laboratory characteristics. The study population was drawn from patients with HSV-1, HSV-2, and VZV polymerase chain reaction positivity in cerebrospinal fluid (CSF) who visited Pusan National University Hospital between 2010 and 2018.During the 9-year study period, a total of 727 CSF samples were examined, with 72.2% (525/727) patients identified as having a CNS infection. Of 471 patients with aseptic meningitis and encephalitis, the causative virus was identified in 145 patients, and no virus was detected in 337 patients. A total of 15.2% (80/525) were diagnosed with one of the 3 herpesviruses as causative agents, 59 patients had meningitis, and 21 patients had encephalitis. Eleven patients with HSV-1, 27 patients with HSV-2, and 42 patients with VZV CNS infections were included. The distribution of cases by age showed different patterns depending on the type of herpesvirus infection. Compared with the HSV-1 group, the median age in the HSV-2 group was younger (HSV-1: 58 years; HSV-2: 38 years; P = .004), and patients with VZV infections showed a bimodal age distribution. Encephalitis was more common in the HSV-1 group, and HSV-1 infection was associated with a poor prognosis at discharge. CSF white blood cell counts were significantly lower in patients infected with HSV-1 (117 × 106 cells/L) than in patients infected with VZV (301 × 106 cells/L) (P = .008).These 3 herpesviruses are important causes of CNS infections regardless of immunologic status. HSV-1 infection was commonly associated with encephalitis and poor prognosis; HSV-2 and VZV CNS infections were associated with a low risk of mortality and neurological sequelae.


Subject(s)
Encephalitis/epidemiology , Herpes Zoster/epidemiology , Herpesviridae Infections/epidemiology , Herpesvirus 1, Human/isolation & purification , Herpesvirus 2, Human/isolation & purification , Herpesvirus 3, Human/isolation & purification , Meningitis, Aseptic/epidemiology , Varicella Zoster Virus Infection/epidemiology , Adult , Aged , Central Nervous System Infections/epidemiology , Chickenpox/epidemiology , Female , Herpes Simplex/epidemiology , Herpes Zoster/complications , Humans , Male , Middle Aged , Retrospective Studies
8.
Ophthalmic Genet ; 42(5): 561-569, 2021 10.
Article in English | MEDLINE | ID: mdl-34132631

ABSTRACT

Background: Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. Identifying genetic causes of INS would help clinicians to facilitate clinical diagnosis and provide appropriate treatment. The aim of this study was to determine the diagnostic utility of targeted next-generation sequencing (NGS) for INS.Materials and methods: We recruited 37 patients who were referred to the Neuro-ophthalmology clinics for evaluations of INS. NGS was performed using a targeted panel that included 98 candidate genes associated with INS. We identified pathogenic variants according to guidelines of the American College of Medical Genetics and Genomics. We also calculated the sensitivity and specificity of each clinical sign to assess the diagnostic yield of our gene panel.Results: After variant filtering, annotation, and interpretation, the potential pathogenic variants were detected in 13 of the 37 patients, achieving a molecular diagnostic rate of 35%. The identified genes were PAX6 (n = 4), FRMD7 (n = 4), GPR143 (n = 2), CACNA1F (n = 1), CNGA3 (n = 1) and GUCY2D (n = 1). In approximately 30% (n = 4) of the patients, the initial clinical diagnosis was revised after a molecular diagnosis was performed. The presence of a family history had the highest predictive power for a molecular diagnosis (sensitivity = 61.5%, specificity = 91.7%), and the sensitivity increased when the family history was considered together with one of two clinical signs such as pendular nystagmus waveforms or anterior segment dysgenesis.Conclusions: Our study shows that targeted NGS can be useful to determine a molecular diagnosis for patients with INS. Targeted NGS also helps to confirm a clinical diagnosis in atypical phenotypes or unresolved cases.


Subject(s)
Eye Proteins/genetics , Mutation , Nystagmus, Congenital/diagnosis , Nystagmus, Congenital/genetics , Adolescent , Adult , Aged , Child , Female , Genetic Association Studies , Genetic Testing , High-Throughput Nucleotide Sequencing , Humans , Male , Middle Aged , Pedigree , Sensitivity and Specificity , Sequence Analysis, DNA
9.
BMC Neurol ; 21(1): 253, 2021 Jun 30.
Article in English | MEDLINE | ID: mdl-34187377

ABSTRACT

BACKGROUND: Spontaneous intracranial hypotension and post-dural puncture headache are both caused by a loss of cerebrospinal fluid but present with different pathogeneses. We compared these two conditions concerning their clinical characteristics, brain imaging findings, and responses to epidural blood patch treatment. METHODS: We retrospectively reviewed the records of patients with intracranial hypotension admitted to the Neurology ward of the Pusan National University Hospital between January 1, 2011, and December 31, 2019, and collected information regarding age, sex, disease duration, hospital course, headache intensity, time to the appearance of a headache after sitting, associated phenomena (nausea, vomiting, auditory symptoms, dizziness), number of epidural blood patch treatments, and prognosis. The brain MRI signs of intracranial hypotension were recorded, including three qualitative signs (diffuse pachymeningeal enhancement, venous distention of the lateral sinus, subdural fluid collection), and six quantitative signs (pituitary height, suprasellar cistern, prepontine cistern, mamillopontine distance, the midbrain-pons angle, and the angle between the vein of Galen and the straight sinus). RESULTS: A total of 105 patients (61 spontaneous intracranial hypotension patients and 44 post-dural puncture headache patients) who met the inclusion criteria were reviewed. More patients with spontaneous intracranial hypotension required epidural blood patch treatment than those with post-dural puncture headache (70.5% (43/61) vs. 45.5% (20/44); p = 0.01) and the spontaneous intracranial hypotension group included a higher proportion of patients who underwent epidural blood patch treatment more than once (37.7% (23/61) vs. 13.6% (6/44); p = 0.007). Brain MRI showed signs of intracranial hypotension in both groups, although the angle between the vein of Galen and the straight sinus was greater in the post-dural puncture headache group (median [95% Confidence Interval]: 85° [68°-79°] vs. 74° [76°-96°], p = 0.02). CONCLUSIONS: Patients with spontaneous intracranial hypotension received more epidural blood patch treatments and more often needed multiple epidural blood patch treatments. Although both groups showed similar brain MRI findings, the angle between the vein of Galen and the straight sinus differed significantly between the groups.


Subject(s)
Blood Patch, Epidural , Brain , Intracranial Hypotension , Post-Dural Puncture Headache , Brain/diagnostic imaging , Brain/physiopathology , Humans , Magnetic Resonance Imaging , Retrospective Studies
10.
Neuroimage ; 235: 118001, 2021 07 15.
Article in English | MEDLINE | ID: mdl-33789137

ABSTRACT

Brain extraction (a.k.a. skull stripping) is a fundamental step in the neuroimaging pipeline as it can affect the accuracy of downstream preprocess such as image registration, tissue classification, etc. Most brain extraction tools have been designed for and applied to human data and are often challenged by non-human primates (NHP) data. Amongst recent attempts to improve performance on NHP data, deep learning models appear to outperform the traditional tools. However, given the minimal sample size of most NHP studies and notable variations in data quality, the deep learning models are very rarely applied to multi-site samples in NHP imaging. To overcome this challenge, we used a transfer-learning framework that leverages a large human imaging dataset to pretrain a convolutional neural network (i.e. U-Net Model), and then transferred this to NHP data using a small NHP training sample. The resulting transfer-learning model converged faster and achieved more accurate performance than a similar U-Net Model trained exclusively on NHP samples. We improved the generalizability of the model by upgrading the transfer-learned model using additional training datasets from multiple research sites in the Primate Data-Exchange (PRIME-DE) consortium. Our final model outperformed brain extraction routines from popular MRI packages (AFNI, FSL, and FreeSurfer) across a heterogeneous sample from multiple sites in the PRIME-DE with less computational cost (20 s~10 min). We also demonstrated the transfer-learning process enables the macaque model to be updated for use with scans from chimpanzees, marmosets, and other mammals (e.g. pig). Our model, code, and the skull-stripped mask repository of 136 macaque monkeys are publicly available for unrestricted use by the neuroimaging community at https://github.com/HumanBrainED/NHP-BrainExtraction.


Subject(s)
Brain/diagnostic imaging , Magnetic Resonance Imaging , Models, Theoretical , Neural Networks, Computer , Neuroimaging/methods , Adult , Animals , Datasets as Topic , Feasibility Studies , Female , Humans , Image Processing, Computer-Assisted/methods , Macaca , Male , Middle Aged , Young Adult
11.
Clin Neurol Neurosurg ; 202: 106507, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33493883

ABSTRACT

INTRODUCTION: Polymerase chain reaction (PCR)-based testing of cerebrospinal fluid (CSF) samples has greatly facilitated the diagnosis of central nervous system (CNS) infections. However, the clinical significance of Epstein-Barr virus (EBV) DNA in CSF of individuals with suspected CNS infection remains unclear. We wanted to gain a better understanding of EBV as an infectious agent in immunocompetent patients with CNS disorders. METHODS: We identified cases of EBV-associated CNS infections and reviewed their clinical and laboratory characteristics. The study population was drawn from patients with EBV PCR positivity in CSF who visited Pusan National University Hospital between 2010 and 2019. RESULTS: Of the 780 CSF samples examined during the 10-year study period, 42 (5.4 %) were positive for EBV DNA; 9 of the patients (21.4 %) were diagnosed with non-CNS infectious diseases, such as optic neuritis, Guillain-Barré syndrome, and idiopathic intracranial hypotension, and the other 33 cases were classified as CNS infections (22 as encephalitis and 11 as meningitis). Intensive care unit admission (13/33 patients, 39.3 %) and presence of severe neurological sequelae at discharge (8/33 patients, 24.2 %) were relatively frequent. In 10 patients (30.3 %), the following pathogens were detected in CSF in addition to EBV: varicella-zoster virus (n = 3), cytomegalovirus (n = 2), herpes simplex virus 1 (n = 1), herpes simplex virus 2 (n = 1), Streptococcus pneumomiae (n = 2), and Enterococcus faecalis (n = 1). The EBV-only group (n = 23) and the co-infection group (n = 10) did not differ in age, gender, laboratory data, results of brain imaging studies, clinical manifestations, or prognosis; however, the co-infected patients had higher CSF protein levels. CONCLUSION: EBV DNA in CSF is occasionally found in the immunocompetent population; the virus was commonly associated with encephalitis and poor prognosis, and frequently found together with other microbes in CSF.


Subject(s)
DNA, Viral/cerebrospinal fluid , Epstein-Barr Virus Infections/physiopathology , Herpesvirus 4, Human/genetics , Immunocompetence , Infectious Encephalitis/physiopathology , Meningitis/physiopathology , Adult , Aged , Coinfection , Cytomegalovirus Infections/cerebrospinal fluid , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/physiopathology , Encephalitis, Herpes Simplex/cerebrospinal fluid , Encephalitis, Herpes Simplex/complications , Encephalitis, Herpes Simplex/physiopathology , Encephalitis, Viral/cerebrospinal fluid , Encephalitis, Viral/complications , Encephalitis, Viral/physiopathology , Enterococcus faecalis , Epstein-Barr Virus Infections/cerebrospinal fluid , Epstein-Barr Virus Infections/complications , Female , Gram-Positive Bacterial Infections/cerebrospinal fluid , Gram-Positive Bacterial Infections/complications , Gram-Positive Bacterial Infections/physiopathology , Guillain-Barre Syndrome/cerebrospinal fluid , Guillain-Barre Syndrome/complications , Guillain-Barre Syndrome/physiopathology , Humans , Infectious Encephalitis/cerebrospinal fluid , Infectious Encephalitis/complications , Infectious Encephalitis/microbiology , Intensive Care Units , Intracranial Hypotension/cerebrospinal fluid , Intracranial Hypotension/complications , Intracranial Hypotension/physiopathology , Male , Meningitis/cerebrospinal fluid , Meningitis/complications , Meningitis/microbiology , Meningitis, Pneumococcal/cerebrospinal fluid , Meningitis, Pneumococcal/complications , Meningitis, Pneumococcal/physiopathology , Meningitis, Viral/cerebrospinal fluid , Meningitis, Viral/complications , Meningitis, Viral/physiopathology , Middle Aged , Optic Neuritis/cerebrospinal fluid , Optic Neuritis/complications , Optic Neuritis/physiopathology , Streptococcal Infections/cerebrospinal fluid , Streptococcal Infections/complications , Streptococcal Infections/physiopathology , Streptococcus pneumoniae , Varicella Zoster Virus Infection/cerebrospinal fluid , Varicella Zoster Virus Infection/complications
12.
Brain Dev ; 43(2): 234-243, 2021 Feb.
Article in English | MEDLINE | ID: mdl-32893079

ABSTRACT

BACKGROUND: We retrospectively evaluated the pathogens in the cerebrospinal fluid (CSF) of pediatric meningitis/encephalitis (M/E) by FilmArray meningitis/encephalitis panel (FA-MEP), and the characteristics of children showing positive and negative FA-MEP results. METHOD: FA-MEP along with conventional tests (bacterial/viral cultures, and polymerase chain reaction tests) was performed in children who presented symptoms of M/E. Clinical and laboratory data were reviewed to evaluate the characteristics of children with pathogens detected by FA-MEP. RESULTS: The CSF specimens from 110 pediatric M/E patients were enrolled. Mean age of the patients was 5.9 ± 5.2 years. Overall positive rate of FA-MEP was 46.4% (51/110). The pathogens detected in the patients were enterovirus (23/51, 45.1%), parechovirus (10/51, 19.6%), S. pneumoniae (7/51, 13.7%), human herpesvirus type 6 (6/51, 11.8%), S. agalactiae (3/51, 5.9%), herpes simplex virus type 2 (1/51, 2.0%), and E. coli (1/51, 2.0%). Aseptic meningitis (OR, 3.24, 95% CI, 1.18-12.73) and a duration of <2 days from onset of symptoms to CSF test (OR, 3.56, 95% CI, 0.1-0.91) significantly contributed to detection of pathogens by the FA-MEP. Among the 14 children who were administered empiric antibiotics before the CSF test, the detection rate was significantly higher in the FA-MEP than in the conventional test (28.6 vs. 0.0%, p = 0.031). CONCLUSIONS: FA-MEP had a higher detection rate in children with M/E compared with conventional tests, particularly aseptic meningitis, and in case of shorter duration of time-to-test. This test was more effective than the conventional test in pediatric M/E patients that had been administered empiric antibiotics.


Subject(s)
Encephalitis/diagnosis , Meningitis/diagnosis , Multiplex Polymerase Chain Reaction/methods , Child , Child, Preschool , Encephalitis/cerebrospinal fluid , Female , Humans , Male , Meningitis/cerebrospinal fluid , Republic of Korea/epidemiology , Retrospective Studies , Tertiary Care Centers , Time Factors
13.
Neuroimage ; 226: 117549, 2021 02 01.
Article in English | MEDLINE | ID: mdl-33248255

ABSTRACT

Compelling evidence suggests the need for more data per individual to reliably map the functional organization of the human connectome. As the notion that 'more data is better' emerges as a golden rule for functional connectomics, researchers find themselves grappling with the challenges of how to obtain the desired amounts of data per participant in a practical manner, particularly for retrospective data aggregation. Increasingly, the aggregation of data across all fMRI scans available for an individual is being viewed as a solution, regardless of scan condition (e.g., rest, task, movie). A number of open questions exist regarding the aggregation process and the impact of different decisions on the reliability of resultant aggregate data. We leveraged the availability of highly sampled test-retest datasets to systematically examine the impact of data aggregation strategies on the reliability of cortical functional connectomics. Specifically, we compared functional connectivity estimates derived after concatenating from: 1) multiple scans under the same state, 2) multiple scans under different states (i.e. hybrid or general functional connectivity), and 3) subsets of one long scan. We also varied connectivity processing (i.e. global signal regression, ICA-FIX, and task regression) and estimation procedures. When the total number of time points is equal, and the scan state held constant, concatenating multiple shorter scans had a clear advantage over a single long scan. However, this was not necessarily true when concatenating across different fMRI states (i.e. task conditions), where the reliability from the aggregate data varied across states. Concatenating fewer numbers of states that are more reliable tends to yield higher reliability. Our findings provide an overview of multiple dependencies of data concatenation that should be considered to optimize reliability in analysis of functional connectivity data.


Subject(s)
Brain/diagnostic imaging , Nerve Net/diagnostic imaging , Adult , Connectome , Female , Humans , Magnetic Resonance Imaging , Male , Reproducibility of Results , Retrospective Studies , Young Adult
14.
Cerebellum ; 20(5): 796-803, 2021 Oct.
Article in English | MEDLINE | ID: mdl-33083962

ABSTRACT

Hyperventilation-induced downbeat nystagmus (HV-DBN) has been reported in cerebellar disorders and explained by a loss of the inhibitory cerebellar output via a metabolic effect on cerebellar Ca2+ channels. The aim of this study was to determine the clinical characteristics and underlying pathogenesis of episodic vestibular syndrome (EVS) with HV-DBN. Of 667 patients with EVS, we recruited 22 with HV-DBN and assessed their clinical characteristics, video-oculographic findings, and the results of molecular genetic analyses. The age at symptom onset was 47.5 ± 13.0 years (mean ± SD), and there was a female preponderance (n = 15, 68%). The duration of vertigo/dizziness attacks ranged from minutes to a few days, and 11 patients (50%) fulfilled the diagnostic criteria for vestibular migraine. HV-induced new-onset DBN in 8 patients, while the remaining 14 showed augmentation of spontaneous DBN by HV. The maximum slow-phase velocity of HV-DBN ranged from 2.2 to 11.9°/s, which showed a statistical difference with that of spontaneous DBN (median = 4.95, IQR = 3.68-6.55 vs. median = 1.25, IQR = 0.20-2.15, p < 0.001). HV-DBN was either purely downbeat (n = 11) or accompanied with small horizontal components (n = 11). Other neuro-otologic findings included perverted head-shaking nystagmus (n = 11), central positional nystagmus (n = 7), saccadic pursuit (n = 3), and horizontal gaze-evoked nystagmus (n = 1). Gene expression profiling with a bioinformatics analysis identified 43 upregulated and 49 downregulated differentially expressed genes (DEGs) in patients with EVS and HV-DBN and revealed that the downregulated DEGs were significantly enriched in terms related to the ribosome pathway. Our results suggest that the underlying cerebellar dysfunction would be responsible for paroxysmal attacks of vertigo in patients with EVS and HV-DBN.


Subject(s)
Cerebellar Diseases , Nystagmus, Pathologic , Vestibular Diseases , Cerebellar Diseases/complications , Female , Humans , Hyperventilation/complications , Hyperventilation/genetics , Nystagmus, Pathologic/genetics , Vertigo/complications , Vestibular Diseases/genetics
15.
J Vestib Res ; 30(6): 363-374, 2020.
Article in English | MEDLINE | ID: mdl-33285659

ABSTRACT

OBJECTIVE: This study aimed to investigate the underlying pathogenesis of acute unilateral vestibulopathy (AUV) using gene expression profiling combined with bioinformatics analysis. METHODS: Total RNA was extracted from the peripheral blood mononuclear cells of ten AUV patients in the acute phase and from ten controls. The differentially expressed genes (DEGs) between these two groups were screened using microarray analysis with the cut-off criteria (|fold changes| > 1.5 and p-value < 0.05). Functional enrichment analysis of DEGs was performed using Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analysis, and the protein-protein interaction (PPI) network was constructed using the STRING (Search Tool for the Retrieval of Interacting Genes) database. RESULTS: There were 57 DEGs (50 up-regulated and 7 down-regulated) identified in the AUV group. Functional enrichment analysis showed that most of the up-regulated DEGs were significantly enriched in terms related to the neutrophil-mediated immune pathway. From the PPI network, the top ten hub genes were extracted by calculating four topological properties, and most of them were related to the innate immune system, inflammatory processes and vascular disorders. The complete blood count tests showed that the neutrophil-to-lymphocyte ratio was significantly higher in the 72 AUV patients than in the age-matched controls (2.93±2.25 vs 1.54±0.61, p < 0.001). CONCLUSIONS: This study showed that the neutrophil-mediated immune pathway may contribute to the development of AUV by mediating inflammatory and thrombotic changes in the vestibular organ.


Subject(s)
Gene Expression Profiling/methods , Immunity, Cellular/immunology , Neutrophils/immunology , Vestibular Neuronitis/genetics , Vestibular Neuronitis/immunology , Adult , Aged , Aged, 80 and over , Female , Humans , Leukocytes, Mononuclear/immunology , Male , Middle Aged , Protein Interaction Maps/genetics , Protein Interaction Maps/immunology , Vestibular Neuronitis/diagnosis
16.
Front Neurol ; 11: 595042, 2020.
Article in English | MEDLINE | ID: mdl-33193064

ABSTRACT

Objectives: Vestibular migraine (VM) is a common vestibular disorder, and familial aggregation of VM with autosomal-dominant inheritance has been described, which supports a genetic background. This study aimed to describe the clinical phenotype of a family with VM, and identify a candidate gene for VM. Methods: We recruited six individuals (four affected and two unaffected) from three consecutive generations of a Korean family with VM, and performed whole-exome sequencing to search for candidate genes. Results: All affected individuals presented with recurrent vertigo, headache, and nausea/vomiting that fulfilled the diagnostic criteria of VM. Two individuals also experienced transient hemiparesis or dysarthria during the episodes. The symptoms were triggered by physical or emotional stress. Interictal examinations showed uni- or bi-directional horizontal gaze-evoked nystagmus in three of the individuals. They had no causative mutations in genes causing familial hemiplegic migraine or episodic ataxia. Through whole-exome sequencing from three affected individuals, we identified a nonsense mutation c.3526C>T in TRPM7 that encodes a cation channel selective to Ca2+ and Mg2+. Conclusions: Alterations in intracellular Ca2+ and Mg2+ homeostasis by TRPM7 mutation may contribute to the development of the VM phenotype. Our result suggest that TRPM7 is a novel candidate gene for VM.

17.
Sleep Med ; 76: 26-32, 2020 12.
Article in English | MEDLINE | ID: mdl-33069999

ABSTRACT

OBJECTIVES: Short sleep duration has been known to be related to metabolic syndrome (MetS) . The aim of this study was to investigate the beneficial effects of weekend catch-up sleep (WCUS) on MetS in the Korean middle-aged population. METHODS: For this cross-sectional study, 1,812 participants aged 35-60 years were selected from the 2016-2018 Korean National Health and Nutrition Examination Survey (mean age 46.94 years, 49% male). Short sleep duration was defined as <6hrs on weekdays, and participants were divided into two groups: WCUS group and no weekend catch-up sleep group. Multiple logistic regression was performed to determine the association between WCUS and MetS prevalence. The covariates included age, sex, education, income, occupation, smoking, alcohol consumption, and physical activity. RESULTS: WCUS was significantly associated with lower MetS prevalence in the unadjusted model and in the model adjusted for socioeconomic and health behavior factors. CONCLUSION: These results support the beneficial effects of WCUS on lowering the risk of MetS among middle-aged chronic short sleepers.


Subject(s)
Metabolic Syndrome , Sleep , Adult , Cross-Sectional Studies , Female , Humans , Male , Metabolic Syndrome/epidemiology , Middle Aged , Nutrition Surveys , Prevalence , Republic of Korea/epidemiology , Time Factors
19.
Epilepsy Behav ; 112: 107393, 2020 11.
Article in English | MEDLINE | ID: mdl-32839143

ABSTRACT

INTRODUCTION: The aim of the study was to evaluate the incidence of insulin resistance (IR) and the associated risk factors in children with epilepsy on a ketogenic diet (KD). METHODS: This longitudinal cohort study analyzed data of children with epilepsy on KD. Insulin resistance was assessed using the homeostasis model assessment of insulin resistance (HOMA-IR). The HOMA-IR value, fasting serum insulin levels, fasting glucose (FG) levels, and lipid profiles were measured before the initiation of the KD and at 6- to 12-month intervals. RESULTS: A total of 28 children were enrolled. The median age at the initiation of KD was 2.7 ±â€¯2.4 years, and the median follow-up duration was 2.1 ±â€¯1.4 years. The median HOMA-IR (HOMA-IR-1) value before the initiation of KD was 1.2 ±â€¯0.2, which significantly increased to 1.8 ±â€¯0.3 at the last follow-up (HOMA-IR-2; ∆HOMA-IR = 0.6 ±â€¯0.3, p < 0.001). The following factors were associated with patients with higher HOMA-IR-2 values (≥1.9): younger age at seizure onset (0.3 ±â€¯0.2 years, p < 0.001), at the initiation of antiepileptic drugs (AEDs; 0.3 ±â€¯0.3 years, p < 0.001), and at the initiation of KD (1.3 ±â€¯0.5 years, p < 0.001) and higher serum alanine transaminase (ALT; 84.0 ±â€¯17.8 U/L, p = 0.022), total cholesterol (TC; 245.0 ±â€¯20.1 mg/dL, p = 0.001), low-density lipoprotein cholesterol (LDL-C, 103.0 ±â€¯6.7 mg/dL, p = 0.003), and triglyceride (387.0 ±â€¯28.8 mg/dL, p < 0.001) levels. Multivariate regression analysis revealed that the age at seizure onset (p = 0.002), at initiation of AEDs (p = 0.021), and at initiation of KD (p = 0.022) and serum levels of LDL-C (p = 0.012) and triglycerides (p = 0.026) were associated with a significantly high HOMA-IR-2 value. CONCLUSION: Close monitoring of serum lipids levels, especially at younger age, may aid in detecting exacerbation of IR.


Subject(s)
Diet, Ketogenic , Epilepsy , Insulin Resistance , Blood Glucose , Child , Epilepsy/epidemiology , Humans , Longitudinal Studies , Prevalence , Risk Factors , Triglycerides
20.
J Clin Neurol ; 16(3): 401-407, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32657060

ABSTRACT

BACKGROUND AND PURPOSE: Organic light-emitting diodes (OLEDs) emit less blue light than traditional light-emitting diodes (LEDs), but the effects of OLED light exposure (LE) on melatonin and sleep have not been evaluated. METHODS: Twenty-four healthy subjects (age 26.9±5.7 years; including 18 females) with the intermediate chronotype were exposed to three different light conditions [4,000 K 150 lux OLED LE, 4,000 K 150 lux LED LE, and dim light (DL) at <10 lux] for 6.5 h from 17:30 to 24:00, in a random order and with a 1-week interval. Participants entered the unit for the experiment at 16:00, and their daylight was measured by actigraphy from 8:00 to 16:00 during each session. Saliva samples for melatonin were taken every hour from 18:00 to 24:00. Sleep was monitored by polysomnography, and vigilance was evaluated by psychomotor vigilance test upon awakening. RESULTS: Melatonin onset occurred at 21:11±01:24, 21:20±01:19, and 21:36±01:16 in the DL, OLED, and LED conditions, respectively. Melatonin onset was significantly delayed under LED LE compared to DL (p=0.007) but did not differ under OLED LE (p=0.245). Melatonin suppression, sleep parameters, and vigilance were similar among the three light conditions. The accumulated amount of daytime light in each session was negatively correlated with the melatonin onset time under the DL (rho=-0.634, p=0.002) and OLED (rho=-0.447, p=0.029) conditions, not under the LED condition (p=0.129). CONCLUSIONS: Melatonin onset under OLED LE was not significantly delayed compared to DL. Exposure to sufficient daylight may advance melatonin onset even when a subject is exposed to OLED LE in the evening.

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