Objective:This study aimed to explore whether there are abnormalities in the kynurenine pathway in patients with depression and suicidal ideation, and their dynamic relationship with clinical symptoms.Methods:According to the DSM-5 diagnostic criteria, a total of 68 patients with depression were prospectively enrolled, including 28 males and 40 females, aged( M ( Q1, Q3)) 22.0 (17.3, 47.8) years, who were the inpatients in the Division of Mood Disorders of Shanghai Mental Health Center from July 2019 to July 2022. The depressed patients were divided into groups with ( n=41) or without suicidal ideation ( n=27) based on whether they chose "weak" or "moderate to strong" suicidal ideation in questions 4 and 5 of the Beck Scale for Suicide Ideation (BSI). And 72 gender-matched healthy controls were also enrolled, including 29 males and 43 females, aged 25.5 (24.0, 36.8) years. Hamilton Depression Rating Scale-24 (HAMD 24), Hamilton Anxiety Rating Scale (HAMA), and BSI were used to evaluate the depression symptoms, anxiety symptoms, and suicidal ideation of depressed patients. All the participants received fasting venous blood collection to measure the levels of kynurenine metabolites in plasma. Among them, depressed patients with suicidal ideation were followed up, and the assessment s of depression symptoms, anxiety symptoms, and suicidal ideation, as well as kynurenine metabolites measurements, were repeated at the end of the 2nd and 4th weeks. Ultra-high performance liquid chromatography-triple quadrupole mass spectrometry was used to measure the levels of kynurenine metabolites in plasma. The hematological indicators were log-transformed, Z-score standardized, and false discovery rate correction was used for multiple comparisons of different metabolites. The relationship between baseline kynurenine metabolites and scale scores was analyzed. The relationship between kynurenine metabolites and scale scores during the follow-up process was analyzed by a linear mixed-effects model. Results:The peripheral picolinic acid (0.39±0.87 vs -0.23±1.09, t=3.89), 3-hydroxykynurenine/kynurenine (3-HK/KYN) (0.38±0.85 vs -0.09±1.01, t=2.98) and 3-HK (0.31±0.81 vs 0.14±1.04, t=2.78) of patients with depression were lower than those of healthy controls (both P<0.05). No statistically significant difference was found between patients with depression with or without suicidal ideation in kynurenine metabolites. In patients with depression and suicidal ideation, baseline HAMD 24 and HAMA scores were positively correlated with plasma 3-HK (HAMD 24: r=0.38; HAMA: r=0.39) and 3-HK/KYN (HAMD 24: r=0.34; HAMA: r=0.37) levels (all P<0.05). After adjusting for age and gender factors, a linear mixed-effects model was established for the follow-up scale scores, and kynurenine metabolite levels of this group of patients, and the results showed that the positive effect of HAMA score on 3-HK/KYN during follow-up was statistically significant ( B=0.04, t=2.46, P<0.05). Conclusion:There are abnormalities in the kynurenine pathway of tryptophan metabolism in patients with depression. 3-HK and 3-HK/KYN are related to the severity of depression and anxiety in patients with depression and suicidal ideation, among which 3-HK/KYN, representing the activity of kynurenine-3-monooxygenase, is dynamically associated with anxiety level.

Objective:This study aimed to explore whether there are abnormalities in the kynurenine pathway in patients with depression and suicidal ideation, and their dynamic relationship with clinical symptoms.Methods:According to the DSM-5 diagnostic criteria, a total of 68 patients with depression were prospectively enrolled, including 28 males and 40 females, aged( M ( Q1, Q3)) 22.0 (17.3, 47.8) years, who were the inpatients in the Division of Mood Disorders of Shanghai Mental Health Center from July 2019 to July 2022. The depressed patients were divided into groups with ( n=41) or without suicidal ideation ( n=27) based on whether they chose "weak" or "moderate to strong" suicidal ideation in questions 4 and 5 of the Beck Scale for Suicide Ideation (BSI). And 72 gender-matched healthy controls were also enrolled, including 29 males and 43 females, aged 25.5 (24.0, 36.8) years. Hamilton Depression Rating Scale-24 (HAMD 24), Hamilton Anxiety Rating Scale (HAMA), and BSI were used to evaluate the depression symptoms, anxiety symptoms, and suicidal ideation of depressed patients. All the participants received fasting venous blood collection to measure the levels of kynurenine metabolites in plasma. Among them, depressed patients with suicidal ideation were followed up, and the assessment s of depression symptoms, anxiety symptoms, and suicidal ideation, as well as kynurenine metabolites measurements, were repeated at the end of the 2nd and 4th weeks. Ultra-high performance liquid chromatography-triple quadrupole mass spectrometry was used to measure the levels of kynurenine metabolites in plasma. The hematological indicators were log-transformed, Z-score standardized, and false discovery rate correction was used for multiple comparisons of different metabolites. The relationship between baseline kynurenine metabolites and scale scores was analyzed. The relationship between kynurenine metabolites and scale scores during the follow-up process was analyzed by a linear mixed-effects model. Results:The peripheral picolinic acid (0.39±0.87 vs -0.23±1.09, t=3.89), 3-hydroxykynurenine/kynurenine (3-HK/KYN) (0.38±0.85 vs -0.09±1.01, t=2.98) and 3-HK (0.31±0.81 vs 0.14±1.04, t=2.78) of patients with depression were lower than those of healthy controls (both P<0.05). No statistically significant difference was found between patients with depression with or without suicidal ideation in kynurenine metabolites. In patients with depression and suicidal ideation, baseline HAMD 24 and HAMA scores were positively correlated with plasma 3-HK (HAMD 24: r=0.38; HAMA: r=0.39) and 3-HK/KYN (HAMD 24: r=0.34; HAMA: r=0.37) levels (all P<0.05). After adjusting for age and gender factors, a linear mixed-effects model was established for the follow-up scale scores, and kynurenine metabolite levels of this group of patients, and the results showed that the positive effect of HAMA score on 3-HK/KYN during follow-up was statistically significant ( B=0.04, t=2.46, P<0.05). Conclusion:There are abnormalities in the kynurenine pathway of tryptophan metabolism in patients with depression. 3-HK and 3-HK/KYN are related to the severity of depression and anxiety in patients with depression and suicidal ideation, among which 3-HK/KYN, representing the activity of kynurenine-3-monooxygenase, is dynamically associated with anxiety level.

Hyper-IgE syndrome (HIES) comprises a group of rare primary immunodeficiencies, which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections.Signal transduction and activator of transcription 3( STAT3)-HIES is the most common type, which is caused by dominant-negative mutations in STAT3.STAT3-HIES confers broad innate and acquired immune defects, defects in skeletal, connective tissue, and vascular functions, causing a clinical phenotype including eczema, staphylococcal and fungal skin and pulmonary infections, scoliosis and minimal trauma fractures, vascular tortuosity and aneurysm.In this article, the advance in diverse clinical manifestations and management strategies of STAT3-HIES was summarized.

Objective:To investigate the factors affecting phenotypes in the patients of methylmalonic acidemia combined with homocysteinemia cblC type with MMACHC c. 609G>A homologous variant. Methods:A retrospective study on the clinical manifestations, complications, treatment, and outcome in 164patients of cblC type with MMACHC c. 609G>A homologous variant was conducted.The patients were diagnosed by biochemical and genetic analysisfrom January 1998 to December 2020. Results:Among the 164 patients, 2 cases were prenatally diagnosed and began treatment after birth. They are 3 and 12 years old with normal physical and mental development. Twenty-one cases were diagnosed by newborn screening. Among them, 15 cases had with normal development. They were treated fromthe age of two weeks at the asymptomatic period. Six cases began treatment aged 1 to 3 months after onset. Their development was delayed. One hundred and forty-one cases were clinically diagnosed. Their onset age ranges from a few minutes after birth to 6 years old. 110 cases had early-onset (78.0%). 31 cases had late-onset (22.0%). Five of them died. 24 patients lost to follow-up. Of the 141 clinically diagnosed patients, 130 (92.2%) with psychomotor retardation, 69 (48.9%) with epilepsy, 39 (27.7%) with anemia, 30 (21.3%) had visual impairment, 27 (19.1%) had hydrocephalus, 26 (18.4%) had feeding difficulties, 7 (5.0%) with liver damage, and 5 (3.5%) with metabolic syndrome. The frequency of hydrocephalus and seizures was significantly higher in the early-onset group. The urinary methylmalonic acid increased significantly in the patients with epilepsy. During the long-term follow-up, the level of plasma total homocysteine in the seizure-uncontrolled group was significantly higher than that in the seizure-controlled group, the difference had a statistical significance ( P<0.05). Conclusion:Most of the patients with MMACHC c. 609G>A homozygous variant had early-onset disease, with a high mortality and disability rate. If not treated in time, it will lead to neurological damage, resulting in epilepsy, mental retardation, hydrocephalus, and multiple organ damage. Pre-symptomatic diagnosis and treatment are crucial to prevent irreversible neurological damage. Neonatal screening and prenatal diagnosis are important to improve the outcome of the patients.

Objective:To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients.Methods:From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. The clinical features, laboratory examinations, genotype, and follow-up data were retrospectively analyzed. Data were compared between the two groups using rank sum test, and categorical data were compared using χ 2 test. Results:Among the 76 patients (51 male, 25 female), 5 were detected by newborn screening, while 71 were diagnosed after clinical onset, 68 cases (96%) had early-onset, 3 cases (4%) had late-onset. The most common clinical manifestations of 74 cases with complete data were psychomotor retardation in 74 cases (100%), visual impairment in 74 cases (100%), epilepsy in 44 cases (59%), anemia in 31 cases (42%), hypotonia or hypertonia in 21 cases (28%), feeding difficulties in 19 cases (26%) and disturbance of consciousness in 17 cases (23%). Genetic analysis was performed in 76 cases, all of whom had MMACHC gene variations, including 30 homozygous variations of MMACHC c.609G>A. The most common variations were c.609G>A (94, 62.7%), followed by c.658_660del (18, 12.0%), c.567dupT (9, 6.0%) and c.217C>T (8, 5.3%). Therapy including cobalamin intramuscular injection, L-carnitine and betaine were initiated immediately after diagnosis. A ventriculoperitoneal shunt operation was performed in 41 cases (operation group), and 31 patients improved after metabolic intervention (non-operation group). There was no significant difference in the age of onset, the age of diagnosis, the blood total homocysteine, methionine, and urinary methylmalonic acid concentration between the two groups (all P>0.05). The symptoms of psychomotor development, epilepsy, and visual impairments improved gradually after a long-term follow-up in the operation group. Conclusions:Hydrocephalus is a severe complication of methylmalonic acidemia combined with homocysteinuria. The most common clinical manifestations are psychomotor retardation, visual impairment, and epilepsy. It usually occurs in early-onset patients. Early diagnosis and etiological treatment are very important. Hydrocephalus may improve after metabolic intervention in some patients. For patients with severe ventricular dilatation, prompt surgical intervention can improve the prognosis.

Objective:To explore the value of thyroid radioactive iodine uptake (RAIU) on predicting the residual activity in patients with differentiated thyroid carcinoma (DTC) after administration of 131I. Methods:A total of 178 patients (63 males, 115 females, age: (39.8±11.4) years) with DTC who underwent initial treatment of 131I in Suzhou Science & Technology Town Hospital between August 2018 and April 2019 were enrolled in this retrospective study. RAIU test and thyroid imaging were performed before 131I treatment. Patients were divided into 3 groups according to the thyroid remnant showed by thyroid imaging: no remnant group, a little remnant group, and obvious remnant group. Radiation dose equivalent rates at different time points (immediately/24 h/48 h/72 h after injection of 131I) were measured to estimate the residual activity of 131I after administration. RAIU and residual activity at 72 h among different thyroid remnant groups were compared by one-way analysis of variance. Relationship between RAIU/ 131I therapeutic dose and residual activity at 72 h was analyzed by Pearson correlation analysis. The linear regression equation between RAIU and residual activity at 72 h after treatment was established. Results:The 3 h RAIU in no remnant group ( n=45), a little remnant group ( n=101), and obvious remnant group ( n=32) were (4.77±1.46)%, (5.53±1.70)% and (8.92±3.75)%, respectively ( F=39.35, P<0.01), and the 24 h RAIU was also significantly different among those 3 groups ((1.54±0.88)%, (3.41±2.55)%, (13.52±8.59)%; F=91.52, P<0.01). The residual activity at 72 h in no remnant group, a little remnant group, and obvious remnant group were (81.70±25.61), (108.24±51.58) and (283.07±133.72) MBq, respectively ( F=92.84, P<0.01). There was a significant positive correlation between RAIU and the residual activity at 72 h (3 h: r=0.753, 24 h: r=0.817, both P<0.01). The linear regression equations between RAIU at 3 h and 24 h and the residual activity at 72 h were y=28.88 x-38.42 and y=13.87 x+ 67.01, respectively. When RAIU was higher than 24.01% at 3 h or 15.18% at 24 h, the residual activity at 72 h after treatment was likely to exceed 400 MBq. There was little correlation between 131I therapeutic dose and the residual activity at 72 h after treatment ( r=0.119, P>0.05). Conclusion:RAIU can be used to predict the residual activity at 72 h after treatment in DTC patients who underwent initial 131I treatment.

Objective:This study aims to explore the clinical features and electrophysiological mechanism of depression through event-related potential analysis.Method:Temporal Experience of Pleasure Scale (TEPS) was used to evaluate anticipatory (TEPS-A) and consummatory (TEPS-C) pleasurable experience among 53 participants (20 patients with major depressive disorder (MDD), 14 patients with bipolar depression Ⅱ (BD) and 19 health controls (HC)). Hamilton Depression Scale (HAMD) and Brief Screening Scale for Dementia (BSSD) were used to evaluate patients’ clinical characteristics. All subjects completed gambling task according to the instructions. Meanwhile, continuous electroencephalogram （EEG) was recorded, and feedback negativity in event-related potential was analyzed.Results:Firstly, compared with HC group, the scores of TEPS, TEPs-A and TEPs-C in MDD and BD groups were decreased ( P<0.01). Secondly, the FN amplitude wave decreased significantly in MDD group ((-0.138±2.562) μV), compared with HC ((-2.569±2.598) μV) and BD group ((-2.251±0.954) μV), P<0.05. Thirdly, in contrast to HC ((10.778±6.967) μV) and BD ((10.284±5.540) μV), the MDD group ((6.069±4.353) μV) displayed blunted responses to gain feedback; For the loss feedback, no significant difference was shown among the three groups. Moreover, correlation analysis showed that, for the MDD group, consummatory anhedonia measured by TEPS-C were associated with reduction in response to gain feedback ( r=-0.501 ，P=0.024). Conclusions:Patients with depressive episode FN in MDD was negatively correlated with the score of consummatory pleasurable experience by having a lack of pleasure, which was manifested as the decrease of both anticipatory pleasurable experience and consummatory pleasurable experience. Patients with MDD showed decreased reward sensitivity and decreased FN amplitude, while patients with BD Ⅱ showed no similar trend. The changes in EEG indicated underpinning mechanism of anhedonia in depression.

Objective:This study aims to explore the clinical features and electrophysiological mechanism of depression through event-related potential analysis.Method:Temporal Experience of Pleasure Scale (TEPS) was used to evaluate anticipatory (TEPS-A) and consummatory (TEPS-C) pleasurable experience among 53 participants (20 patients with major depressive disorder (MDD), 14 patients with bipolar depression Ⅱ (BD) and 19 health controls (HC)). Hamilton Depression Scale (HAMD) and Brief Screening Scale for Dementia (BSSD) were used to evaluate patients’ clinical characteristics. All subjects completed gambling task according to the instructions. Meanwhile, continuous electroencephalogram （EEG) was recorded, and feedback negativity in event-related potential was analyzed.Results:Firstly, compared with HC group, the scores of TEPS, TEPs-A and TEPs-C in MDD and BD groups were decreased ( P<0.01). Secondly, the FN amplitude wave decreased significantly in MDD group ((-0.138±2.562) μV), compared with HC ((-2.569±2.598) μV) and BD group ((-2.251±0.954) μV), P<0.05. Thirdly, in contrast to HC ((10.778±6.967) μV) and BD ((10.284±5.540) μV), the MDD group ((6.069±4.353) μV) displayed blunted responses to gain feedback; For the loss feedback, no significant difference was shown among the three groups. Moreover, correlation analysis showed that, for the MDD group, consummatory anhedonia measured by TEPS-C were associated with reduction in response to gain feedback ( r=-0.501 ，P=0.024). Conclusions:Patients with depressive episode FN in MDD was negatively correlated with the score of consummatory pleasurable experience by having a lack of pleasure, which was manifested as the decrease of both anticipatory pleasurable experience and consummatory pleasurable experience. Patients with MDD showed decreased reward sensitivity and decreased FN amplitude, while patients with BD Ⅱ showed no similar trend. The changes in EEG indicated underpinning mechanism of anhedonia in depression.

Objective To evaluate it' s prognosis according to the follow-up statistics of coronary reimplantation of anomalous left coronary artery originating from the pulmonary artery (ALCAPA).Methods Analyze the preoperative,peri-operative and postoperative data of 20 ALCAPA patients having undergone coronary artery reimplantation.Results After coronary reimplantation,patient' s cardiothoracic ratio was obviously decreased,the degree of myocardial ischemia was improved according to electrocardiogram,the left ventricular ejection fraction and fractional shortening showed a trend of rise,mostof the patients recover in 6 months to 1 year after coronary artery reimplantation.Left ventricular end-diastolic volume index over time gradually returned to normal,mitral regurgitation gradually.improved.Conclusion ALCAPA is rare and fatal,therefore it should be diagnosed and treated as early as possible.It is also significant to avoid missed diagnosis and misdiagnosis.After coronary reimplantation,cardiac function can be gradually restored with low mortality and good prognosis result.The left ventricularejection fraction of most patients recovers to the normal standard in six months to one year' s time.

Objective To assess the value of salivary gland scintigraphy in diagnosis of Sj(o)gren's syndrome (SS).Methods A total of 44 patients with clinically suspicious SS were included.The data of salivary gland scintigraphy were retrospectively analyzed and the time-radioactivity curve (TAC) was obtained by outlining ROI in bilateral parotid glands and submaxillary glands.Uptake index (UI) and excretion fraction (EF) were defined.Both UI and EF were compared with the visual assessment and final diagnosis respectively.Results UI and EF of bilateral parotid glands and submaxillary glands in SS patients were significantly lower than those in non-SS patients (all P＜0.05).The impaired salivary gland function was classified as 0-3 grades by visual assessment.The UI of bilateral parotid glands and submaxillary glands were negatively correlated with the qualitative classification.While there were no significant correlations between EF and qualitative classification (all P＞0.05),except for that of right submaxillary gland (r=-0.312,P=0.039).The comprehensive diagnostic efficacy of UI on SS patients was higher than those of visual assessment,but their area under curves of ROC were not significantly different (all P＞0.05).Conclusion UI and EF can effectively evaluate salivary gland function and serve as objective tools to distinguish patients with SS.