To report a Chinese pedigree with benign hereditary chorea (BHC) related to NKX2-1 gene mutation. The proband, a 16-year-old boy, was admitted with a 15-year history of recurrent involuntary choreiform movements, exacerbated over 2 weeks. The results of whole-exome sequencing showed that the proband and his mother both had a heterozygous mutation in exon 2 of the NKX2-1 gene (c.231_232dup:p.Pro78Hisfs *24), leading to a clinical diagnosis of BHC. No patient carrying this variant was previously reported in the literature. The clinical phenotype of NKX2-1 gene defects is complex, with BHC being a characteristic manifestation of the nervous system. This group of disorders is also referred to as NKX2-1-related disorders. This article discusses the clinical features, diagnosis and treatment points of patients with NKX2-1-related disorder with reference to the current literature, aiming to enhance clinicians′ understanding and management of this disease.

Objective : To explore the differences in oxidative stress levels between patients with and without non-suicidal self-injury(NSSI) behavior in depressive disorders, and their correlation with depressive symptoms, disease duration, and self-injury frequency. Methods : A total of 95 subjects were included in the study, including 65 patients with depression(patient group). They were divided into NSSI subgroup(31 cases) and Non-NSSI subgroup(34 cases) based on whether they had NSSI. 30 healthy control group cases(HC). Enzyme linked immunosorbent assay(ELISA) was used to detect the levels of superoxide dismutase(SOD), catalase(CAT), malondialdehyde(MDA), glutathione peroxidase(GPX), and oxidized low-density lipoprotein(OxLDL) in the peripheral blood of the subjects. The Hamilton depression rating scale(HAMD-17) was used to assess the patient′s condition, and the Ottawa self-injury inventory(OSI) was used to quantitatively evaluate the self-injury frequency of NSSI group patients. Results : The levels of SOD, CAT,MDA,GPX and OxLDL in the patient group were significantly higher than those in the control group(P<0.05). The levels of SOD, CAT, MDA,GPX and OxLDL in the NSSI subgroup were significantly higher than those in the Non-NSSI subgroup and the control group(P<0.05).The duration of the NSSI subgroup was positively correlated with the levels of SOD,CAT,and MDA(r=0.504,P=0.004; r=0.568,P=0.001; r=0.404,P=0.024),and the HAMD-17 score was positively correlated with the levels of SOD,CAT,and MDA(r=0.573,P=0.001; r=0.577,P=0.001; r=0.477,P=0.007). The frequency of self-injury was positively correlated with the levels of SOD and MDA(r=0.558,P=0.001; r=0.494,P=0.005). Conclusion The OS level of patients with depression is significantly higher than that of the healthy population,and among them,patients with depression accompanied by NSSI have a more significant increase in oxidative stress level. Elevated levels of OS may affect the severity,duration,and frequency of self-injurious behavior in patients with depression accompanied by NSSI.

To report a Chinese pedigree with benign hereditary chorea (BHC) related to NKX2-1 gene mutation. The proband, a 16-year-old boy, was admitted with a 15-year history of recurrent involuntary choreiform movements, exacerbated over 2 weeks. The results of whole-exome sequencing showed that the proband and his mother both had a heterozygous mutation in exon 2 of the NKX2-1 gene (c.231_232dup:p.Pro78Hisfs *24), leading to a clinical diagnosis of BHC. No patient carrying this variant was previously reported in the literature. The clinical phenotype of NKX2-1 gene defects is complex, with BHC being a characteristic manifestation of the nervous system. This group of disorders is also referred to as NKX2-1-related disorders. This article discusses the clinical features, diagnosis and treatment points of patients with NKX2-1-related disorder with reference to the current literature, aiming to enhance clinicians′ understanding and management of this disease.

Objective To explore the difference of serum inflammatory factors in patients with first episode schizo-phrenia,patients with relapse episode schizophrenia and healthy people,and the correlation between serum inflam-matory factors with negative symptoms in patients with schizophrenia,so as to provide reference for clinical inter-vention.Methods A total of 86 patients with first episode schizophrenia(first episode group),80 patients with re-lapse episode schizophrenia(relapse episode group)and 82 healthy people(control group)were included in the study.The difference of serum inflammatory factors among the three groups and the correlation between serum inflammatory factors with negative symptoms were analyzed.Results There were significant differences in serum interleukin(IL)-1β and IL-16 levels among the three groups(P<0.05).The analysis and comparison between the two groups showed that the serum IL-1β in first episode group was significantly higher than that in relapse episode group and control group(P<0.05),serum IL-16 in first episode group and relapse episode group was significantly higher than that in control group(P<0.05).Serum IL-1β was negatively correlated with PANSS general psycho-pathological scale factor score in first episode group(P<0.05),and serum IL-16 was positively correlated with PANSS negative symptom scale factor score in relapse episode group(P<0.05).IL-16 level might be an inde-pendent risk factor affecting the onset of first episode group and relapse episode group(P<0.05).Conclusion There are differences in serum levels of IL-1β and IL-16 between patients with schizophrenia and healthy people.Serum IL-16 levels in patients with relapse episode schizophrenia are associated with negative symptoms.IL-16 lev-el may be an independent risk factor for schizophrenia.

Background Schizophrenic patients have metabolic disorders,impaired language and information processing function.Inflammatory factors may play an important role in the occurrence and development of schizophrenia.Objective To explore the relationship of the inflammatory factor levels with metabolic levels,language fluency and information processing function in patients with schizophrenia,so as to provide references for clinical understanding of the neuropathological mechanisms of schizophrenia.Methods A total of 96 patients with schizophrenia were included in the study group,who were hospitalized in the Fourth People's Hospital of Hefei from January 2021 to December 2022 as well as met the diagnostic criteria of Diagnostic and Statistical Manual of Mental Disorders,fifth edition(DSM-5)and Mini-International Neuropsychiatric Interview(MINI)6.0.Meanwhile,population who underwent physical examination at the same hospital were included in the control group(n=42).A high-sensitivity multi factor electrochemiluminescence analyzer was used to detect the levels of inflammatory factors IL-4,IL-5,IL-7,IL-8,IL-10 and IL-13.A fully automated biochemical analyzer was used to detect the levels of metabolic indicators such as fasting blood glucose,triglycerides,high-density lipoprotein,apolipoprotein A,creatinine and urea nitrogen.Verbal fluency and information processing function of all participants were assessed by using Verbal Fluency Test(VFT)and Stroop Color Word Test(SCWT).Results There were statistically significant differences in the levels of IL-4,IL-5,IL-7,IL-8,IL-10,IL-13 and IL-15 between the study group and the control group(P<0.05).There were statistically significant differences in BMI,waist circumference,fasting blood glucose,triglycerides,high-density lipoprotein,urea nitrogen,apolipoprotein A and creatinine levels between the two groups(P<0.05).The differences in the correct number of household appliances,animals,fruits,vegetables,names starting with"water"and"self"in VFT between the two groups were statistically significant(P<0.05).The differences in point reaction time,character reaction time and character color reaction time in SCWT between the two groups were statistically significant(P<0.05).Correlation analysis showed that except for creatinine levels,the levels of IL-4 and IL-5 in patients with schizophrenia were correlated with other indicators(P<0.05).IL-7 levels were correlated with creatinine levels,household appliances,animals,fruits,correct number of names starting with"water"in VFT,point reaction time and word reaction time in SCWT(P<0.05).IL-8 levels were correlated with triglyceride levels,household appliances,animals,fruits,vegetables,correct number of names starting with"water"and"self"in VFT and word reaction time in SCWT(P<0.05).Except for creatinine levels and the correct number of names starting with"self",IL-10 levels were correlated with all other indicators(P<0.05).Except for creatinine and urea nitrogen levels,IL-13 levels were correlated with other indicators(P<0.05).Conclusion The levels of inflammatory factors in patients with schizophrenia may be related to their metabolic levels,language fluency and information processing function.

Objective : To explore the difference of serum inflammatory cytokines level in depression patients with non-suicidal self-injury (NSSI) ，depression patients without NSSI and normal control group，and to analyze the correlation between inflammatory cytokine level and impulsive characteristics of patients in NSSI group． Methods : 40 depression patients with NSSI ( NSSI group) ，45 depression patients without NSSI ( non-NSSI group) and 40 cases of normal control group were selected，and enzyme-linked immunosorbent assay (ELASA) was used to detect serum IL-2、IL-6、IL-10、IL-15 and TNF-α levels．The Hamilton Depression Scale (HAMD) was used to evaluate the con- dition．The patient's impulsivity was evaluated with Barratt Impulsive-ness Scale (BIS-11) . Results : The levels of serum IL-2、IL-6、IL-10、IL-15 and TNF-α in the NSSI group were significantly higher than those in the non-NSSI group and the normal control group (P＜0. 01) ，and the difference was statistically significant．The score of BIS-11 motor impulsiveness，nonplanning impulsiveness and total score in NSSI group were higher than those in non-NSSI group，with statistically significant difference (P＜0. 01) ．The levels of serum IL-2、IL-6、IL-10、IL-15 and TNF-α in NSSI group were positively correlated with BIS-11 motor impulsiveness score，nonplanning impulsiveness score and total score． Conclusion The levels of inflammatory cytokines in depression patients with NSSI increase significantly，and the patients have more obvious impulsive personality characteristics．The levels of inflammatory cytokines is positively correlated with the impulsivity of patients.

Objective : To explore the differences of serum inflammatory cytokines and tyrosine kinase with immunoglobulin and epidermal growth factor homology domains⁃2(Tie⁃2) levels between patients with first⁃episode schizophrenia and healthy people , and the correlation with clinical symptoms . Methods : A total of 168 participants were recruited , including 86 patients with first⁃episode schizophrenia (patient group) and 82 healthy people ( control group) . Demographic data , Positive and Negative Symptom Scale (PANSS) and Brief Psychiatric Rating Scale (PANSS) were collected at baseline . Serum inflammatory cytokines and Tie⁃2 levels were determined by MesoScale Discovery (MSD) . Results : Compared with the control group , the levels of serum interleukin (IL) Ⅳ1β and IL⁃4 in the patient group increased (P < 0. 05) , while the level of Tie⁃2 decreased (P < 0. 05) . IL⁃1β level in the patient group was positively correlated with the total score of BPRS , the score of BPRS hostility factor and the score of PANSS positive scale factor (P < 0. 05) . The positive score of PANSS and the total score of BPRS in the patient group had a positive effect on IL⁃1β level (P < 0. 05) . PANSS negative scale factor score , general psychopathological scale factor score and total score of PANSS in patient group also had positive effects on Tie⁃2 level (P < 0. 05) . IL⁃1β level in the patient group could effectively predict the severity of clinical symptoms in patients with first⁃episode schizophrenia at the critical level of 2 127. 076 pg/L , with specificity of 0. 675 and sensitivity of 0. 639 . The AUC of IL⁃1β and Tie⁃2 were 0. 836 1 and 0. 646 2 , respectively . Conclusion The levels of IL⁃1β , IL⁃4 and Tie⁃2 in patients with first⁃episode schizophrenia are different from those in healthy people . IL⁃1β levels in patients with first⁃episode schizophrenia are correlated with part of clinical symptoms . IL⁃1β and Tie⁃2 levels in the patient group may be influencing factors with high sensitivity and specificity in predicting the severity of clinical symptoms in patients with first⁃episode schizophrenia .

Bipolar disorder and obsessive-compulsive disorder comorbidity is becoming more and more common and has aroused clinical physicians' increasing interest. This review summarizes the epidemiology, clinical characteristics, neurobiochemistry, and treatment of comorbid bipolar disorder and obsessive-compulsive disorder and discusses the neurobiochemical mechanism. Findings from this review will provide evidence for identifying the clinical symptoms of bipolar disorder and obsessive-compulsive disorder comorbidity and for treatment of the comorbidity.

Objective: This study is designed to compare the changes of intestinal microflora and cytokine levels in patients with schizophrenia in different periods, analyze the correlation between intestinal microflora and disease symptoms, and explore the influence of intestinal microflora changes on the symptoms of patients with schizophrenia. Methods: 40 schizophrenic patients in different periods were included in the study, with their demographic data of age, body mass index(BMI), sex and course of disease collected. For each subject, serum was first collected for the levels of cytokines to be determined by an Meso Scale Discovery. The severity of schizophrenia was then assessed using negative and positive symptom scales. Finally macrofactor sequencing of intestinal flora was performed using MetaGeneMark. Results: Serum levels of interleukin-6(IL-6), interleukin-10(IL-10), interleukin-17(IL-17), interleukin-23(IL-23), and tumor necrosis factor-α(TNF-α) in the acute stage were higher than those in remission stage, and the results were statistically significant(P<0.05). Negative and positive symptom Scale(PANSS) positive factor scores were negatively correlated with TNF-α and IL-17(R=-0.312,P<0.05;R=-0.399,P<0.05); IL-23 was positively correlated with the negative factor score of the scale(R=-0.344,P<0.05). IL-6 was positively correlated with scale cognitive factor score(R=-0.339,P<0.05). IL-23 was positively correlated with the total score of the scale(R=-0.370,P<0.05). The microbial diversity detected in stool samples of patients with acute schizophrenia was lower than that of patients with remission, and certain difference was detected in the intestinal flora species composition between patients in the acute stage and in the remission stage. Conclusion The level of serum cytokines in the acute stage of schizophrenia is higher than that in the remission stage, and some cytokines levels are correlated with clinical symptoms.

Objective:To explore the relationship between serum cytokine levels and cognitive impairment in patients with bipolar I manic episode.Methods:Forty-four patients with bipolar I manic episode (BDI group) and 42 healthy volunteers (HC group) matched with demographic data were included.Peripheral serum interleukin-6 (IL-6), interleukin-10 (IL-10), interleukin-23 (IL-23), and tumor necrosis factor-α (TNF-α) levels were detected by enzyme-linked immunosorbent assay (ELISA). The repeatable battery for the assessment of neuropsychological status (RSPM) was used to evaluate the cognitive function of the two groups.Young manic rating scale (YMRS) was used to evaluate the clinical manic symptoms of patients.Hypothesis testing and correlation analysis were processed by SPSS 22.0.Results:(1) The expression levels of serum cytokines IL-6, IL-10, IL-23 and TNF-α in BDI group ((38.872±7.803), (33.259±7.260), 42.350(33.600, 55.390), (108.309±19.398)) were significantly different with those in HC group ((24.664±6.083), (29.257±5.208), 17.360(12.870, 30.690), (68.674±13.610)), and the differences were statistically significant (( t=9.387, t=2.947, Z=-5.477, t=10.921, all P<0.01)). (2) In the RBANS cognitive test, the visual span, attention, delayed memory and total scale scores of the BP group ((92.909±16.126). (83.091±8.529), (80.636±9.592), (416.318±33.438)) were significantly different with those of the HC group ((82.905±10.958), (92.381±14.850), (93.714±7.613), (436.905±37.228), t=3.378, t=-3.538, t=-6.982, t=-2.700, all P<0.05). (3)Correlation analysis showed that in the BDI group, the course of disease was positively correlated with IL-6 and IL-23( r=0.509, r=0.298, P<0.05), the visual breadth was positively correlated with IL-10 and TNF-α ( r=0.426, r=0.647, P<0.05), language was negatively correlated with IL-23 level ( r=-0.372, P<0.05), attention was significantly negatively correlated with IL-6, IL-10, and TNF-α ( r=-0.315, r=-0.318, r=-0.498, all P<0.05), delayed memory was positively correlated with IL-10 and TNF-α ( r=-0.360, r=-0.621, P<0.05). No significant correlation was found between YRMS score, immediate memory score and cytokines ( P>0.05). Conclusion:Patients with bipolar I disorder manic have changes in serum levels of cytokines and cognitive dysfunction. The course of disease and cognitive function are related with serum cytokine level.