[Predictive value of prognostic inflammatory and tumor score in intrahepatic cholangiocarcinoma].

Objective: To compare and analyze the predictive value of different inflammatory factors and tumor markers in intrahepatic cholangiocarcinoma and to develop a new and effective preoperative prognostic scoring system. Methods: 102 and 72 cases with intrahepatic cholangiocarcinoma who underwent radical surgery in Tianjin Medical University Cancer Institute and Hospital and the Affiliated Hospital of Weifang Medical University were selected as the experimental group and the validation group, respectively. Clinicopathological and follow-up data were collected. Cox proportional-hazards model was used to analyze the predictive value of different prognostic markers. The relationship between prognostic markers and clinicopathological data was analyzed by rank sum test, χ2 or Fisher's exact test. Results: Among the direct inflammatory factors, tumor markers and combined inflammatory factors, prognostic inflammatory index (PII), carbohydrate antigen (CA) 19-9 and systemic inflammation score (SIS) were the most significant predictive factors for postoperative survival outcomes in patients with intrahepatic cholangiocarcinoma. The prognostic inflammatory and tumor score (PITS) was proposed as a new prognostic scoring system for intrahepatic cholangiocarcinoma. PII and CA19-9 were included into the scoring criteria for prognostic stratification of patients. PITS was an independent predictor of tumor-free survival and overall survival in patients with intrahepatic cholangiocarcinoma. Patients with high-grade PITS had later tumor grade and higher frequency of vascular invasion. Conclusion: PITS is highly effective prognostic scoring system for patients with intrahepatic cholangiocarcinoma. In addition, PITS is recommended for preoperative prognostic stratification in patients with intrahepatic cholangiocarcinoma.

Mechanism of MIR-210 mediated NF-κB pathway on cardiac ischemia-reperfusion injury.

In this study, MicroRNA-210 (miR-210), which was previously proved to be a potential immunomodulator in various disease, attenuated mouse myocardium ischemia/reperfusion (I/R) injury. miR-210 was increased in cardiomyocytes exposed to hypoxia/reoxygenation (H/R). The expression of IL-6 and TNF-α in both serum and supernatant were reduced in miR-210 mimics groups. Mice were randomly divided into four groups, which were pre-treated with saline (sham and ischemia/reperfusion group), miR-210 mimics and miR-210 inhibitor treatments. Three days later, the mouse IR model was established by ischemia for 30 min, followed by reperfusion for 3 h. Myocardium and plasma were harvested and assessed. The myocardium histopathological changes were reduced in miR-210 mimics groups, and serum levels of Creatine kinase isoenzyme (CK-MB) and Lactate dehydrogenase (LDH) were significantly decreased compared with I/R groups. The protein expression of proinflammatory factor interleukin (IL)-1ß and IL-6 were suppressed by the up-regulation of miR-210. The expression of miR-210 was negatively correlated with the expression of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB). In conclusion, our study indicates that miR-210 protects heart from myocardium I/R injury via suppressing NF-κB signal pathway.

[Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease].

Objective: Explore the application of plasma glucosylsphingosine level in the follow-up treatment of patients with Gaucher disease. Methods: Two groups of patients with Gaucher disease were enrolled, who regularly received imiglucerase treatment in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine between January 2017 and July 2020. Group 1 was 6 initially treated patients, including 1 case of chitotriosidase deficiency, aged 10-43 years old, 4 females and 2 males. The blood routine test, chitotriosidase activity and plasma glucosylsphingosine level were measured during pre-and post-treatment. Group 2 were 6 cases of Gaucher disease including 3 cases of chitotriosidase deficiency, who received long-term specific treatment in the same hospital, aged 17 to 32 years, 2 females and 4 males. The plasma glucosylsphingosine level was detected in the follow-up treatment during January 2017 to July 2020. Results: Patients in group 1 had a significant increase in plasma platelets after 12 months of treatment (P<0.05), and also a significant increase in plasma hemoglobin after 30 months of treatment (P<0.05). The chitotriosidase activity of 5 patients in group 1 significantly decreased after 18 months of treatment (P<0.05), the median value of the chitotriosidase activity decreased by 7 278 nmol·ml(-1)·h(-1) at 30 months of treatment. While only 3 months after treatment, the plasma glucosylsphingosine levels of 6 patients in group 1 decreased significantly (P<0.05), the median value of the glucosylsphingosine levels decreased by 259.7 µg/L at 30 months of treatment. The plasma glucosylsphingosine levels in group 1 patients were positively correlated with chitotriosidase activity, with spearman of 0.863, P<0.001. In group 2, 6 patients with Gaucher disease that had been treated for a long period of time, showed normal peripheral blood routine tests, normal liver and spleen volume. However, the plasma glucosphingosine levels in group 2 patients decreased significantly during 2017-2020 (P<0.05). Compare to the initial values, the median value of the last glucosphingosine levels in group 2 patients had been reduced by 23.4 µg/L. Conclusion: The detection of plasma glucosylsphingosine levels in patients with Gaucher disease could be used for short-term and long-term follow-up of treatment.

[The expressions of CTLA-4 and PD-1 on CD(4)(+) T cells and the level of plasma VEGF in patients with obstructive sleep apnea hypopnea syndrome].

Objective: CD(4)(+)T cells, cytotoxic T-lymphocyte antigen 4 (CTLA-4), programmed cell death-1 (PD-1) and vascular endothelial growth factor (VEGF) are associated with cancer development. The aim of the present study was to investigate the expression of CTLA-4, PD-1 and VEGF in patients with obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: From January 2017 to January 2018, a total of 47 first-visit outpatients were recruited in the Sleep and Respiratory Disorder Center of Guangdong Provincial People's Hospital, and were divided into control group (N=17, mean age 54±12 years), mild-to-moderate OSAHS group (N=15, mean age 54±12 years) and severe OSAHS group (N=15, mean age 56±13 years). Venous blood was collected, plasma and cells were isolated, the expressions of PD-1 and CTLA-4 on the surface of CD(4)(+)T cells were detected by flow cytometry, and plasma VEGF was measured by enzyme linked immunosorbent assay. Results: The proportion of CD(4)(+)T cells in control group, mild-to-moderate OSAHS group and severe OSAHS group were respectively(38±8)%, (35±8)% and (38±6)% (F=1.228, P>0.05). The expression of CTLA-4 on CD(4)(+)T cells were respectively [1.13 (0.59~1.78)]%, [0.45 (0.16~1.43)]% and [0.87(0.47~1.46)]% (H=2.205, P>0.05). The expression of PD-1 on CD(4)(+)T cells were respectively [4.24 (2.12~6.03)]%, [3.54(2.69~5.09)]% and [3.31(1.67~8.25)]% (H=0.541, P>0.05). The concentrations of VEGF in control group, mild-to-moderate OSAHS group and severe OSAHS group were statistically different [(395.16±87.78) ng/L vs (452.85±107.97) ng/L vs (546.42±199.27) ng/L, F=4.827, P=0.013]. Compared with the control group, VEGF concentration was significantly increased in the severe OSAHS group(P<0.01). VEGF concentration was correlated negatively with the lowest SpO(2) (r (s)=-0.480,P=0.001), but positively with apnea-hypopnea index(r (s)=0.403, P=0.005), oxygen desaturation index (r (s)=0.378, P=0.010) and proportion of SpO(2) less than or equal to 90% of total sleep time(r (s)=0.547, P=0.000 3). Conclusion: There was no significant difference of PD-1 and CTLA-4 expression on CD(4)(+)T cells in patients with and without OSAHS. The expression of VEGF was elevated in OSAHS patients, and increased with the severity of OSAHS and hypoxia.

[The Rice OsDUF810 Family: OsDUF810.7 May be Involved in the Tolerance to Salt and Drought].

With the advance of sequencing technology, the number of sequenced plant genomes has been rapidly increasing. However, understanding of the gene function in these sequenced genomes lags far behind; as a result, many coding plant sequences in public databases are annotated as proteins with domains of unknown function (DUF). Function of a protein family DUF810 in rice is not known. In this study, we analysed seven members of OsDU810 (OsDUF810.1-OsDUF810.7) family with three distinct motifs in rice Nipponbare. By phylogenetic analysis, OsDUF810 proteins fall into three major groups (I, II, III). Expression patterns of the seven corresponding OsDUF810 protein-encoding genes in 15 different rice tissues vary. Under drought, salt, cold and heat stress conditions and ABA treatment, the expression of OsDUF810.7 significantly increases. Overexpression of this protein in E. coli lead to a significant enhancement of catalase (CAT) and peroxidase (POD) activities, and improved bacterial resistance to salt and drought.

Potential value of the common vetch (Vicia sativa L.) as an animal feedstuff: a review.

The objective of this review was to systematically evaluate common vetch seeds as a potential feedstuff for animals, by summarizing and discussing the available published literature covering their nutritional composition as well as their content of antinutritional factors and potential techniques for their reduction. In addition, animal feeding studies that have investigated the effect of inclusion of common vetch seeds on animal growth and performance were identified and evaluated to stimulate interest in their use as a good source of nutrients for inclusion in animal diets. The collective literature shows that common vetch seeds are a less costly (in comparison with alternatives) and rich source of protein and minerals for farmed animals, are of high digestibility and have a high energy content, and can be used to partially or totally replace soya bean meal and/or to replace a large proportion of cereals in the diet. Furthermore, the literature shows that common vetch seeds contain a range of antinutritional factors which, if they are to be utilized in non-ruminant diets and to increase their utilizing efficiency, need to be removed or inactivated. This can be achieved via certain pre-processing methods, the combination of which may deliver better results.

Using the attract method to identify core pathways in juvenile idiopathic arthritis.

The aim of this study was to identify core pathways associated with juvenile idiopathic arthritis (JIA) using the attract method. Kyoto Encyclopedia of Genes and Genomes pathways were determined using the GSEA-ANOVA method, based on the gene expression data of JIA. Syn-expression groups within core attractor pathways were identified by hierarchical clustering. Correlated sets of genes exhibiting highly similar profiles to the syn-expression groups were identified and each correlated set was subjected to a gene ontology functional enrichment analysis to discover potentially shared biological themes. Based on a false-discovery rate < 0.05, we identified 11 significant pathways were identified as potential attractors. Flag genes or uninformative genes were removed and 5 discriminative pathways: the proteasome, ribosome, protein export, spliceosome, and Parkinson's disease pathways were identified. A final set of syn-expression groups with a consistent trend of relative expression of pathway-related genes was obtained; that is, the proteasome, ribosome, protein export, spliceosome, and Parkinson's disease pathways were composed of 2, 2, 1, 2, and 3 clusters, respectively. Genes in each correlated set shared common roles, and changes at the pathway level were more likely to be real. In light of these, the attract method was able to on expand important context to find distinguishing expression patterns within pathways. This paper predicted that the functional themes involved in protein synthesis (such as proteasome, ribosome, spliceosome) were closely related to the progression of JIA, which might contribute to the detection of therapy target for JIA.

[Analysis of long-term compliance to continuous positive airway pressure in patients with obstructive sleep apnea].

OBJECTIVE: To explore the continuous positive airway pressure (CPAP) therapy compliance in patients with obstructive sleep apnea (OSA). METHODS: This prospective study recruited a group of subjects from May 2009 to December 2013 who were diagnosed and had accepted CPAP treatment in Sleep Center of Guangdong General Hospital, and the patients were followed-up regularly for long-term and assessed the CPAP treatment compliance. The patients were diagnosed, had pressure titration and CPAP treatment through out of center sleep test. The subjects were followed-up for 1 st, 3rd, 6th, 12th month, and each year regularly after accepting the CPAP treatment in Sleep Center by face to face follow-up with specialist physicians. Physicians followed-up the patients' subjective symptoms, CPAP adherence, patient education and side effect solutions. The patients were classified into good and poor compliance groups, and statistical analysis was done between the two groups. RESULTS: There were 77 cases enrolled until December 2015, only 73 patients completed the study. The patients were followed-up about 2-6 years, the average was (3.93±1.29) years, the compliance accounted for 54.8% (40/73), and the average compliance was (4.02±1.87) hours/night. The trend of the long-term compliance showed that there was a gradual increase within the first 3 months of CPAP treatment and then the compliance decreased; it then increased gradually after the first two years. The good compliance group showed that the compliance increased gradually in the initial 3 months, and then fell; from the first year to the 3rd year, the compliance was stable; after the 3rd year there was a drop and the compliance tended to increase again after the 4th year. The poor compliance group showed the compliance had a downward trend from the beginning of the first two years, then after a brief rise, the compliance decreased linearly. Multivariate analysis showed that long-term compliance was not associated with age, daytime sleepiness (ESS), oxygen desaturation index (ODI), anxiety, depression (P>0.05), etc. However, it was associated with the time of the titration treatment (P<0.001), the time of the flow monitored (P<0.01) and the number of the pressure titration within one week (P<0.05). CONCLUSIONS: Long-term compliance shows a curve change, the increased compliance is related with the regular follow-up. Long-term compliance can be predicted by the degree of cooperation with the initial diagnosis and treatment.

[The expression of macrophage migration inhibitory factor in obstructive sleep apnea hypopnea syndrome and its injury to endothelial cells].

Objective: To study the expression of macrophage migration inhibitory factor (MIF) in obstructive sleep apnea hypopnea syndrome (OSAHS) and its injury to endothelial cells. Methods: According to the PSG test results, subjects who were the first time to take PSG examination without treatment (n=71) were divided into a control group (n=20), a mild OSAHS group (n=19), a moderate OSAHS group (n=15) and severe OSAHS group (n=17). For each patients, 4 ml fasting peripheral blood was obtained when PSG was finished around 6: 30 in the next morning, and the MIF level in plasma was detected with the ELISA method. Peripheral blood mononuclear cells (PBMC) from the control group and the severe OSAHS patients were cocultured with umbilical vein endothelial cells (HUVEC) for 72 hours. The apoptosis of HUVEC was detected by flow cytometry, while ET-1, NO, sICAM-1 and IL-6 in the supernatants were measured with the ELISA method. Results: The plasma level of MIF in the control group and the mild, the moderate, and the severe OSAHS patients was (26±8), (28±9), (31±14), (39±15) ng/ml, respectively (F=15.65, P<0.001), and it was higher in the severe OSAHS group as compared to the control group(P<0.01). The level of MIF was associated positively with the apnea hypoventilation index (AHI, r=0.365, P=0.008) and the oxygen index reduction (ODI, r=0.308, P=0.308) n but negatively with the lowest blood oxygen (r=0.323, P=0.323). Endothelial cell apoptosis rate in the control group and the severe OSAHS group was (2.94±1.02) %, (8.23± 3.01) %, respectively, t=5.97, P<0.001. ET-1 in the control group and the severe OSAHS group was (6.71±5.52), (9.88±4.79) pg/ml, respectively, t=3.018, P=0.141. sICAM-1 in the control group and the severe OSAHS group was (11±8), (20±7) ng/ml, respectively, t=7.58, P=0.014. NO in the control group and the severe OSAHS group was (35±16), (25±5) mol/L, respectively, t=2.01, P=0.067. IL-6 in the control group and the severe OSAHS group was (220±42), (436±178) mol/L, respectively, t=2.77, P<0.05. Conclusion: MIF is closely related to the degree of OSAHS severity, and it may be involved in the development and endothelial injury in OSAHS.

[The pathogenic gene screening in a cardiomyopathy pedigree of Yunnan province].

OBJECTIVE: In this study, the sreening of candidate pathogenic gene is done among family members of an dilated cardiomyopathy(DCM)and hypertrophic cardiomyopathy (HCM) coexistence, and find the relationship between the genotype and the phenotype. METHODS: The inheritance atlas was drawn, analysis of genetic characteristics and clinical phenotype.Peripheral venous blood samples of proband and family members were candidated gene exon high-throughput sequencing sub target capture, make the result compares with related database, ultimately screening the target area of the exon and mutations of candidate genes and then using bidirectional sequencing of Sanger to sequence other family members and the health group which were matching with gender and age to testify whether there is the above mutations. RESULTS: In this family, the proband and his father carry three missense mutations, about TTNc.604 A>G(p.Lys202Glu)、TAZ c. 580A>G(p.Ile194Val)and MYH7c.730 T>C(p.Phe244Leu). The heart function of proband was failure, and accompanied malignant arrhythmia.But his father has no obvious clinical symptoms.In this family, the same genetic mutation of disease causing gene lead to different clinical phenotype, but different genetic mutation of disease causing gene lead to the same clinical phenotype.None of the mutations found in this family was found in the health group. CONCLUSION: The patient of this family carries the genetic mutation of MYH7, TTN and TAZ.The patient of this family carries the composite mutation of MYH7(+) /TTN(+) heterozygous missense mutation and TAZ(+) /TTN(+) heterozygous missense mutation may be show the performance of the genetic characteristics of early onset, severe phenotype.

[Sedentary behavior, screen time and mental health of college students: a Meta-analysis].

Objective: To evaluate the effects of sedentary behavior/screen time on mental health of college students by Meta-analysis based on the results of literature retrieval and provide theoretical basis for the improvement of college students' mental health. Methods: The original research literatures about sedentary behavior (including screen time) and college students' mental health published as of 14 July 2022 were retrieved from PubMed, Embase, Cochrane Library, CNKI, VIP and Wanfang data. Data were extracted from the included studies and scored by one author in accordance with the proposed programme, and quality score was reviewed by another author. The literature that met the inclusion criteria was systematically reviewed and Meta-analysis was carried out by software Stata 14.2 based on the data from the literatures. Results: A total of 36 studies met the inclusion criteria, including 35 observational studies and 1 interventional study. There are 4 papers about the effects of sedentary behavior and 9 papers about the effects of screening time on depression in college students and 4 papers about the effects of sedentary behavior/screening time on anxiety in college students were used for a Meta-analysis, and the other studies were also analyzed. The Meta-analysis on the effects of sedentary behavior on depression in college students showed that there was a significant positive correlation between higher level sedentary behavior and increased risk for depression (OR=1.07,95%CI:1.05-1.10). Subgroup analysis indicated that there was no significant correlation between higher level sedentary behavior and depression (OR=1.74, 95%CI:0.93-3.25) in the unadjusted confounding factor model, but there was significance positive correlation after adjusting confounding factors (OR=2.15, 95%CI:1.18-3.90). Meta-analysis on the effects of screen time on depression in college students showed that longer screen time were significantly positively correlated with higher depression level (OR=1.03, 95%CI: 1.02-1.05). The results of subgroup analysis showed that in both unadjusted confounding factor model and adjusted confounding factor model, longer screen time was significantly positively correlated with depression (OR=1.27, 95%CI: 1.13-1.42; OR=1.45, 95%CI: 1.18-1.79) , respectively. Meta-analysis on the effects of sedentary behavior on anxiety showed that longer screen time was significantly positively correlated with increased anxiety risk (OR=1.44, 95%CI: 1.31-1.58). The results of subgroup analysis showed that in both unadjusted confounding factor model and adjusted confounding factor model, there was a significant positive correlation between longer screen time and anxiety (OR=1.47, 95%CI: 1.31-1.65; OR=1.38, 95%CI:1.17-1.62). The analysis for the literatures which were not eligible for Meta-analysis found that sedentary behavior/screen time was significantly associated with stress and other mental health in college students. Conclusions: Sedentary behavior or screen time is significantly negatively correlated with college students' mental health, in particular, resulting in depression and anxiety. These effects might be be different between weekdays and weekend days.

[Clinical characteristics of 111 cases with mucopolysaccharidosis â £A].

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.

Promoting positive health behaviours--'tooth worm' phenomenon and its implications.

UNLABELLED: 'Tooth worm' is a traditional belief about the pathogen of dental caries (tooth decay). Nevertheless, in our previous study, parental 'tooth worm' belief was linked to a reduced caries risk of their children. OBJECTIVES: This study aimed to further characterize the impact of parental 'tooth worm' belief on their children's caries experience and its psychobehavioural mechanisms. BASIC RESEARCH DESIGN: analytic observational study. SETTING: Thirteen randomly selected kindergartens in Singapore. PARTICIPANTS: 1,782 preschoolers aged 3-6 years. METHODS: Each child received an oral examination and microbiological tests. Parents completed a self-administered questionnaire on their socio-demographic background, oral health knowledge/attitude and child's oral health habits. RESULTS: Multivariate analysis confirmed a reduced chance of 'high caries rate' (number of affected teeth > 2) among children whose parents held the 'tooth worm' belief (Odds Ratio = 0.41; 95% Confidence Interval = 0.19-0.89). With such perception among parents, children brushed their teeth more frequently (p = 0.042). Since no difference in oral hygiene was observed, the health benefit of the "tooth worm" perception may be acquired through the delivery of fluoride (an agent with proven anti-caries effect) during frequent toothbrushing episodes. CONCLUSIONS: This study revealed a 'tooth worm' phenomenon, indicating that parental 'tooth worm' belief is associated with early establishment of regular toothbrushing habit and reduction of dental caries in children. This phenomenon and its psychobehavioural mechanisms, enriching our understanding of oral health behaviours, have implications for effective health education.

[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].

Objective: To investigate the spectrum of amino acid, organic acid, and fatty acid oxidative metabolic diseases in children diagnosed by detecting urinary organic acid levels using gas chromatography-mass spectrometry. Methods: From January 2005 to December 2021, clinical data of 2 461 children diagnosed with inherited metabolic diseases (IMD) by gas chromatography-mass spectrometry, in combination with tandem mass spectrometry and genetic testing in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed. Results: Among 2 461 children, 1 446 were male and 1 051 were female. A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid ß oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency). Conclusion: Among the diseases diagnosed by analyzing urinary organic acid profiling with gas chromatography-mass spectrometry, the most common are organic acidemias, followed by amino acid disorders and fatty acid oxidation defects.