Network analysis for estimating standardization trends in genomics using MEDLINE.

BACKGROUND: Biotechnology in genomics, such as sequencing devices and gene quantification software, has proliferated and been applied to clinical settings. However, the lack of standards applicable to it poses practical problems in interoperability and reusability of the technology across various application domains. This study aims to visualize and identify the standard trends in clinical genomics and to suggest areas on which standardization efforts must focus. METHODS: Of 16,538 articles retrieved from PubMed, published from 1975 to 2020, using search keywords "genomics and standard" and "clinical genomic sequence and standard", terms were extracted from the abstracts and titles of 15,855 articles. Our analysis includes (1) network analysis of full phases (2) period analysis with five phases; (3) statistical analysis; (4) content analysis. RESULTS: Our research trend showed an increasing trend from 2003, years marked by the completion of the human genome project (2003). The content analysis showed that keywords related to such concepts as gene types for analysis, and analysis techniques were increased in phase 3 when US-FDA first approved the next-generation sequencer. During 2017-2019, oncology-relevant terms were clustered and contributed to the increasing trend in phase 4 of the content analysis. In the statistical analysis, all the categories showed high regression values (R2 > 0.586) throughout the whole analysis period and phase-based statistical analysis showed significance only in the Genetics terminology category (P = .039*) at phase 4. CONCLUSIONS: Through comprehensive trend analysis from our study, we provided the trend shifts and high-demand items in standardization for clinical genetics.

Recurrent herpes infection showing a new facial phenotype: A case report.

BACKGROUND: Facial herpes is a common form of the herpes simplex virus-1 infection and usually presents as vesicles near the mouth, nose, and periocular sites. In contrast, we observed a new facial symptom of herpes on the entire face without vesicles. CASE SUMMARY: A 33-year-old woman with a history of varicella infection and shingles since an early age presented with sarcoidosis of the entire face and neuralgia without oral lesions. The patient was prescribed antiviral treatment with valacyclovir and acyclovir cream. One day after drug administration, facial skin lesions and neurological pain improved. Herpes simplex without oral blisters can easily be misdiagnosed as pimples upon visual examination in an outpatient clinic. CONCLUSION: As acute herpes simplex is accompanied by neuralgia, prompt diagnosis and prescription are necessary, considering the pathological history and health conditions.

A structural equation modeling approach using behavioral and neuroimaging markers in major depressive disorder.

Major depressive disorder (MDD) has consistently proven to be a multifactorial and highly comorbid disease. Despite recent depression-related research demonstrating causalities between MDD-related factors and a small number of variables, including brain structural changes, a high-statistical power analysis of the various factors is yet to be conducted. We retrospectively analyzed data from 155 participants (84 healthy controls and 71 patients with MDD). We used magnetic resonance imaging and diffusion tensor imaging data, scales assessing childhood trauma, depression severity, cognitive dysfunction, impulsivity, and suicidal ideation. To simultaneously evaluate the causalities between multivariable, we implemented two types of MDD-specified structural equation models (SEM), the behavioral and neurobehavioral models. Behavioral SEM showed significant results in the MDD group: Comparative Fit Index [CFI] = 1.000, Root Mean Square Error of Approximation [RMSEA]) = 0.000), with a strong correlation in the scales for childhood trauma, depression severity, suicidal ideation, impulsivity, and cognitive dysfunction. Based on behavioral SEM, we established neurobehavioral models showing the best-fit in MDD, especially including the right cingulate cortex, central to the posterior corpus callosum, right putamen, pallidum, whole brainstem, and ventral diencephalon, including the thalamus (CFI >0.96, RMSEA <0.05). Our MDD-specific model revealed that the limbic-associated regions are strongly connected with childhood trauma rather than depression severity, and that they independently affect suicidal ideation and cognitive dysfunction. Furthermore, cognitive dysfunction could affect impulsivity.

Childhood abuse and cortical gray matter volume in patients with major depressive disorder.

Childhood abuse is associated with brain structural alterations; however, few studies have investigated the association between specific types of childhood abuse and cortical volume in patients with major depressive disorder (MDD). We aimed to investigate the association between specific types of childhood abuse and gray matter volumes in patients with MDD. Seventy-five participants with MDD and 97 healthy controls (HCs) aged 19-64 years were included. Cortical gray matter volumes were compared between MDD and HC groups, and also compared according to exposure to each type of specific childhood abuse. Emotional, sexual, and physical childhood abuse were assessed using the 28-item Childhood Trauma Questionnaire. Patients with MDD showed a significantly decreased gray matter volume in the right anterior cingulate gyrus (ACG). Childhood sexual abuse (CSA) was associated with significantly decreased gray matter volume in the right middle occipital gyrus (MOG). In the post-hoc comparison of volumes of the right ACG and MOG, MDD patients with CSA had significantly smaller volumes in the right MOG than did MDD patients without CSA or HCs. The right MOG volume decrease could be a neuroimaging marker associated with CSA and morphological changes in the brain may be involved in the pathophysiology of MDD.

Enhanced Dichotic Listening and Temporal Sequencing Ability in Early-Blind Individuals.

Several studies have reported the better auditory performance of early-blind subjects over sighted subjects. However, few studies have compared the auditory functions of both hemispheres or evaluated interhemispheric transfer and binaural integration in blind individuals. Therefore, we evaluated whether there are differences in dichotic listening, auditory temporal sequencing ability, or speech perception in noise (all of which have been used to diagnose central auditory processing disorder) between early-blind subjects and sighted subjects. The study included 23 early-blind subjects and 22 age-matched sighted subjects. In the dichotic listening test (three-digit pair), the early-blind subjects achieved higher scores than the sighted subjects in the left ear (p = 0.003, Bonferroni's corrected α = 0.05/6 = 0.008), but not in the right ear, indicating a right ear advantage in sighted subjects (p < 0.001) but not in early-blind subjects. In the frequency patterning test (five tones), the early-blind subjects performed better (both ears in the humming response, but the left ear only in the labeling response) than the sighted subjects (p < 0.008, Bonferroni's corrected α = 0.05/6 = 0.008). Monosyllable perception in noise tended to be better in early-blind subjects than in sighted subjects at a signal-to-noise ratio of -8 (p = 0.054), the results at signal-to-noise ratios of -4, 0, +4, and +8 did not differ. Acoustic change complex responses to/ba/in babble noise, recorded with electroencephalography, showed a greater N1 peak amplitude at only FC5 electrode under a signal-to-noise ratio of -8 and -4 dB in the early-blind subjects than in the sighted subjects (p = 0.004 and p = 0.003, respectively, Bonferroni's corrected α = 0.05/5 = 0.01). The results of this study revealed early-blind subjects exhibited some advantages in dichotic listening, and temporal sequencing ability compared to those shown in sighted subjects. These advantages may be attributable to the enhanced activity of the central auditory nervous system, especially the right hemisphere function, and the transfer of auditory information between the two hemispheres.

Emotions and sensory processing in adolescents: The effect of childhood traumatic experiences.

Reportedly, maltreated children are more likely to have a mental illness, interpersonal violence, and other social behavior problems than those without trauma experience. However, there are few studies regarding childhood trauma and sensory processing relationship and the relationship is not clear until today. To verify the association between childhood trauma emotions and sensory processing in adolescents is the aim of this study. To gather traumatized adolescents, we conducted survey questionnaires from six alternative schools and one general high school in South Korea. A total of 260 students has answered the questions: trauma/parenting/school adaptation factors, childhood trauma, the difficulty of emotion regulation, positive and negative emotional measure, shortened self-control measure, and adolescent/adult sensory profile. We analyzed linear regression between childhood trauma and other emotions/sensory processing in total subjects and conducted group comparisons between general school and alternative school. With childhood trauma, negative emotion, emotion dysregulation, sensory profile including subscales showed positive correlations. A significant negative correlation was observed between the self-control scale and childhood trauma score. In group comparison results, trauma factors, primary caregiver, custody transfer, and school life adaptation factors were significantly higher in alternative school students (p < 0.002) while the parental relationship did not show a difference. Childhood trauma score, vision, and tactile were significantly higher in alternative school students. To summarize, our results present a direct effect of childhood trauma on sensory function in adolescents and was confirmed the importance of family environments in adolescents.

Single-Session of Combined tDCS-TMS May Increase Therapeutic Effects in Subjects With Tinnitus.

To treat motor and psychiatric disorders, transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) are used in clinics worldwide. We combined these two types of neuromodulation technique to increase the effective response of a single session of neuromodulation in subjective tinnitus. Eighty tinnitus subjects were split into four different treatment groups: tDCS, tDCS with sham TMS, tDCS-TMS, and TMS group. Subjects were given 1.5 mA tDCS on the bi-frontal area and TMS stimulated the contralateral single side of the temporo-parietal cortex with 200 pulses at 1 Hz stimulation. Comparing pre-treatment questionnaire scores to post-treatment questionnaire scores, all four groups showed statistically significant improvements. Although there was no significant difference among group comparison, the largest mean difference was shown in the combined group, especially for tinnitus intensity and tinnitus-related distress. Responders in the combined group were the highest for VAS intensity, with a maximum of 80% of twenty subjects. To summarize, dual-neuromodulation responders could consist of responders of frontal tDCS and temporal TMS. In addition, abnormal activity in the frontal or temporal area of the responders is presumed to be modulated by treatment and will be suggested as the target areas in future studies.

Severe Temporal Hyper-Activated States Caused by Noise in Tinnitus and Hyperacusis with Normal Hearing.

Lots of neuroimaging and animal studies have revealed that tinnitus and hyperacusis share the same patterns in the bottom up central auditory process. The aim was to identify the abnormal central patterns commonly observed in both tinnitus and hyperacusis in humans. We investigated two cases of normal hearing: a tinnitus patient and a hyperacusis patient. We compared the differences between the severe temporal hyper-activated state (STHS), with spikes, fast beta and gamma frequencies after noise exposure, and the mild temporal hyper-activated state (MTHS), in no sound exposed condition. The power of the gamma band in the two cases was increased in both auditory cortices compared to the other brain regions. Our results of human with normal hearing were the first to identify how tinnitus and hyperacusis caused by sound are abnormally active and how they maintain constant pathological states.