OBJECTIVE: To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD). METHODS: Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous variants of the MVK gene, including a c.248C>T (p.Phe83Cys) variant derived from his father and a c.971C>T (p.Ala324Val) variant from his mother. Based on the guidelines of the American College of Medical Genetics and Genomics, both variations were predicted to be likely pathogenic (PM1 + PM2 + PM3 + PP3). CONCLUSION The compound heterozygous variants of the MVK gene probably underlay the MKD in the proband. Above findings have enriched the mutational spectrum of the MVK gene.
Child ; Genomics ; Humans ; Immunoglobulin D/genetics* ; Mevalonate Kinase Deficiency/genetics* ; Mutation ; Whole Exome Sequencing

B-Lymphocytes ; Graft vs Host Disease ; Humans ; Immunoglobulin D ; T Follicular Helper Cells ; T-Lymphocytes, Helper-Inducer

Objective: To detect and analyze the expression level of serum 25-hydroxyvitamin D [25(OH)D], periodontal clinical indicators and immunological indicators of rheumatism in patients with periodontitis and rheumatoid arthritis (RA), and to explore the correlation between 25(OH)D and the two diseases. Methods: This study was a case-control study. According to the inclusion criteria, patients from the Department of Stomatology and the Department of Rheumatology and Immunology and healthy volunteers from the Physical Examination Center were selected from November 2018 to May 2019 in Shengjing Hospital, China Medical University respectively. The patients were divided into 4 groups: 26 patients with simple periodontitis were included in the periodontitis group; 23 patients with RA were included in the RA group; 22 patients with RA and periodontitis simultaneously were included in the RA with periodontitis group; 22 healthy volunteers were included in the healthy control group, adding up to a total of 93 cases. The general information and periodontal clinical indexes of subjects in these 4 groups were recorded. Median elbow venous blood samples were collected from fasting subjects in each group, and 25(OH)D and immunoglobulin (Ig) were measured. The disease activity scores of RA patients were recorded and the rheumatic immune indexes were determinated. Pearson correlation analysis was performed between 25 (OH) D level and periodontal indexes in subjects of 4 groups. Results: The expression levels of rheumatoid factor [106.5(47.1, 283.8) kU/L] and C-reactive protein [20.5(13.1, 32.3) mg/L] in RA with periodontitis group were significantly higher than those in RA group [60.1(19.0, 110.0) kU/L, 14.7(3.0, 18.0) mg/L] (Z=-2.29, P=0.022; Z=-2.25, P=0.024). The levels of IgG and IgA in RA with periodontitis group [IgG and IgA: (16.0±4.3), (3.2± 1.3) g/L] as well as RA group [IgG and IgA: (16.3±5.5), (3.7±1.8) g/L] were significantly higher than those in healthy control group [IgG and IgA: (12.0±1.8), (2.3±0.6) g/L] and periodontitis group [IgG and IgA: (12.5±2.2), (2.0±0.7) g/L](P<0.05). The level of 25(OH)D in RA with periodontitis group [(26.0±9.8) nmol/L] was significantly lower than that in periodontitis group [(35.6±8.4) nmol/L] and RA group [(32.7±8.6) nmol/L] (P<0.05). The level of 25(OH)D was negatively correlated with sulcus bleeding index (r=-0.43, P=0.032) and clinical attachment loss (r=-0.41, P=0.043). Conclusions: Expression level of 25(OH)D was significantly decreased in patients with periodontitis and RA. There was a certain correlation between 25(OH)D and periodontitis and RA.
Arthritis, Rheumatoid/metabolism* ; Case-Control Studies ; Humans ; Immunoglobulin A ; Immunoglobulin G ; Periodontitis ; Vitamin D/analogs & derivatives*

OBJECTIVE: To explore the clinical features, prognosis and survival of patients with IgD multiple myeloma (MM). METHODS: The clinical data of 20 patients with IgD MM was analyzed retrospectively. The prognostic factors and survival analysis was carried out. We summarized their clinical characteristics. The survival analysis was carried out by Kaplan-Meier method, and the prognostic factor were analyzed by using log-rank test for single factor analysis of observation index. Variables of P<0.15 in single factor analysis were enrolled in multifactor cox regression analysis. RESULTS: IgD MM patients accounted for 4.3% of all MM patients in the same period, among which 80% were male, the median age of patients was 57.5(35-77) years old, 90% of the patients belongs to λ light chain type. At the time of diagnosis, 18 patients (90%) were in DS-Ⅲ stages, while 10 patients were in ISS-Ⅲ stage. The first clinical manifestations were fatigue, bone pain, kidney function impairment, anemia (Hb<100 g/L) in 14 cases (70%), 12 cases (60%) with osteolytic bone destruction≥3, combined with renal impairment in 8 cases (40%), and elevated blood calcium in 11 cases (51.4%). In only 5 patients the ratio of albumin to globntin was inverted, hypoalbuminemia accounted for 40%, and globulin increase accounted for only 15%. FISH results showed that the positive rate of 1q21 amplification (50%) was the highest, and it was easy to occur at the same time as other cytogenetic abnormalities. Extramedullary infiltration occurred in 4 cases (20%). The analysis of prognostic factors showed that only the increase of lactate dehydrogenase (LDH) level was an independent poor prognostic factor for IgD MM patients. Extramedullary infiltration and various cytogenetic abnormalities were found in 2 IgD MM patients with primary drug resistance, suggesting that extramedullary infiltration and various cytogenetic abnormalities may be prognostic factors, but the difference was not statistically significant, Which maybe related to the small sample size. All 20 patients were treated with bortezomib-containing regimen, of which 19 patients were evaluated, 17 patients (89.4%) showed effective, including CR+VGPR (52.6%), PR (31.5%), MR (5.3%), 2 patients primary drug resistance. The median PFS and OS was 9.5 and 10.5 months, respectively. CONCLUSION IgD MM is a rare and invasive disease. Increased LDH is an independent prognostic factor. Bortizomib-containing regimen can improve the prognosis of IgD MM patients.
Aged ; Disease-Free Survival ; Female ; Humans ; Immunoglobulin D ; Male ; Middle Aged ; Multiple Myeloma ; Prognosis ; Retrospective Studies ; Survival Analysis ; Treatment Outcome

Humans ; Immunoglobulin D ; Multiple Myeloma ; Rupture, Spontaneous ; Spleen

OBJECTIVES: Internet gaming disorder (IGD) is associated with attention deficit/hyperactivity disorder (ADHD) or depression etc. We tried to examine the mediating effects of depression in the relationship between ADHD and IGD.METHODS: This study was conducted on 2000 people who participated in on-line survey among 14–39 year-old men and women in 2017. And we clarified the relationship among IGD, ADHD, and depression and tested the mediation model. The mean and standard deviation of the main variables were calculated and correlation analysis was performed to confirm the relationship among the main variables. In order to test the mediating effect of depression on the relationship between ADHD and IGD, the structural equation model was implemented using AMOS 21 (IBM).RESULTS: There were significant correlations among the variables; IGD, ADHD and depression. Depression had a mediating effect 0.23 (95% confidence interval : 0.17–0.28) in the relationship between IGD and ADHD.CONCLUSIONS: This study showed that depression can mediate ADHD and IGD. Therefore, the evaluation and management of depression and ADHD should be included in the diagnosis and treatment of IGD.
Depression ; Diagnosis ; Female ; Humans ; Immunoglobulin D ; Internet ; Male ; Negotiating

PURPOSE: Vitamin D is a potent immunomodulator. However, its role in the pathogenesis of allergic rhinitis is unclear. METHODS: The aim of this study was to evaluate the antiallergic effect of intranasally applied vitamin D in an allergic rhinitis mouse model. BALB/c mice were intraperitoneally sensitized with ovalbumin (OVA) and alum before they were intranasally challenged with OVA. Then, they were intranasally administered 1, 25-dihydroxyvitamin D3 (0.02 μg) or solvent. Allergic symptom scores, eosinophil infiltration, cytokine mRNA levels (interleukin [IL]-4, IL-5, IL-10, IL-13 and interferon-γ) in the nasal tissue, and serum total immunoglobulin E (IgE) and OVA-specific IgE, IgG1, and IgG2a were analyzed and compared with negative and positive control groups. Cervical lymph nodes (LNs) were harvested for flow cytometry analysis and cell proliferation assay. RESULTS: In the treatment group, allergic symptom scores, eosinophil infiltration, and mRNA levels of IL-4 and IL-13 were significantly lower in the nasal tissue than in the positive control group. The IL-5 mRNA level, serum total IgE, and OVA-specific IgE and IgG1 levels decreased in the treatment group; however, the difference was not significant. In the cervical LNs, CD86 expression had been down-regulated in CD11c+major histocompatibility complex II-high (MHCIIhigh) in the treatment group. Additionally, IL-4 secretion in the lymphocyte culture from cervical LNs significantly decreased. CONCLUSIONS: The results confirm the antiallergic effect of intranasal 1,25-dihydroxyvitamin D3. It decreases CD 86 expression among CD11c+MHCIIhigh cells and T-helper type 2-mediated inflammation in the cervical LNs. Therefore, topically applied 1,25-dihydroxyvitamin D3 can be a future therapeutic agent for allergic rhinitis.
Administration, Intranasal ; Animals ; Anti-Allergic Agents ; Calcitriol ; Cell Proliferation ; Dendritic Cells ; Eosinophils ; Flow Cytometry ; Immunoglobulin E ; Immunoglobulin G ; Immunoglobulins ; Inflammation ; Interleukin-10 ; Interleukin-13 ; Interleukin-4 ; Interleukin-5 ; Lymph Nodes ; Lymphocytes ; Major Histocompatibility Complex ; Mice ; Models, Animal ; Ovalbumin ; Ovum ; Rhinitis, Allergic ; RNA, Messenger ; Vitamin D

Glial cell line-derived neurotrophic factor (GDNF) has been reported to be involved in negatively regulating the effects of addictive disorders. The objective of this study was to investigate alterations in the levels of GDNF in patients with Internet gaming disorder (IGD) and to assess the relationship between GDNF levels and the severity of IGD indices. Nineteen male patients with IGD and 19 sexmatched control subjects were evaluated for alteration of plasma GDNF levels and for relationship between GDNF levels and clinical characteristics of Internet gaming, including the Young's Internet Addiction Test (Y-IAT). The GDNF levels were found to be significantly low in patients with IGD (103.2±62.0 pg/mL) compared with the levels of controls (245.2±101.6 pg/mL, p<0.001). GDNF levels were negatively correlated with Y-IAT scores (Spearman's rho=-0.645, p=<0.001) and this negative correlation remained even after controlling for multiple variables (r=-0.370, p=0.048). These findings support the assumed role of GDNF in the regulation of IGD.
Case-Control Studies ; Glial Cell Line-Derived Neurotrophic Factor ; Humans ; Immunoglobulin D ; Internet ; Male ; Neuroglia ; Pilot Projects ; Plasma

BACKGROUND: Studying immigrants may have the potential to explore how cultural and environmental changes affect the internet game play patterns of individuals in the two countries. We planned to compare risk and preventive factors for Internet Gaming Disorder (IGD) between Korean adolescents in Korea and immigrant Koreans in the US. METHODS: Ninety-four Koreans and 133 immigrant Koreans were recruited. Independent factors consisted of five domains including demographic data, physical activity, academic, art, and music activities, psychological factors, and game and media play. The dependent variable in the current study was the high-risk group of IGD, which was assessed with Young’s Internet Addiction Scale scores. To determine the protective and risk factors for IGD, we performed a multiple logistic regression analysis using the high-risk group as the dependent variable. RESULTS: Five domains affected the risk for IGD in Korean and immigrant Korean groups. Vigorous physical activity was the strongest protective factor for IGD in the Korean group, while media activity was the strongest protective factor for IGD in immigrant Koreans in the US. CONCLUSION: The results indicate that internet gaming problems might be affected by environmental factors and it is recommended that gaming activity is substituted with physical activity, extracurricular classes, books, and music.
Adolescent ; Emigrants and Immigrants ; Humans ; Immunoglobulin D ; Internet ; Korea ; Logistic Models ; Motor Activity ; Music ; Protective Factors ; Psychology ; Risk Factors ; United States

OBJECTIVES: Internet gaming disorder (IGD) is known to be related to stress and the serotonin-transporter-linked polymorphic region (5-HTTLPR) that is known to be associated with stress and has been studied to affect various psychiatric illness outbreaks. We tried to examine the relationship between stress, 5-HTTLPR and IGD. METHODS: A total of 59 participants with IGD, diagnosed according to the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria and 67 normal controls (NC) were enrolled. The IGD group and the NC were compared using chisquare test and independent sample t-test, and logistic regression analysis was used to examine the relationship between stress, the 5-HTTLPR, and IGD. RESULTS: The mean scores for anxiety, impulsivity and stress were significantly higher in the IGD group than in the NC. In addition, there was a significant association between stress and IGD [odds ratio (OR) = 1.172, 95% confidence interval (CI) = 1.008–1.362]. CONCLUSIONS: This study showed that stress would affect IGD. Therefore, the evaluation and management of stress should be included in the diagnosis and treatment of IGD.
Adult* ; Anxiety ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Disease Outbreaks ; Humans ; Immunoglobulin D ; Impulsive Behavior ; Internet* ; Logistic Models