1.A case-control study on the association of Hashimoto’s thyroiditis and anti-thyroid antibodies with oral lichen planus
LIU Yuan ; CHEN Yan ; CONG Zhaoxia ; LI Yiming ; XUE Rui ; ZHAO Jin
Journal of Prevention and Treatment for Stomatological Diseases 2025;33(9):757-764
Objective:
This study aims to explore the association between oral lichen planus (OLP) and Hashimoto’s thyroiditis (HT) and its anti-thyroid antibodies to provide clinical evidence for thyroid disease screening in patients with OLP.
Methods:
This study was approved by the institutional ethics committee. A total of 125 clinically and histopathologically confirmed patients with OLP were enrolled as the case group, and they were matched with 125 non-OLP controls based on sex and age. Demographic data (gender, age, lesion type, and disease duration) were collected from both groups. Serum levels of thyroid peroxidase antibodies (TPOAb) and thyroglobulin antibodies (TgAb) were measured to analyze their associations with sex, age, lesion type, and disease duration in patients with OLP.
Result:
The prevalence of HT in patients with OLP was 31.20%, significantly higher than that in the control group (9.60%) (χ2=18.504, P<0.001). The prevalence of HT in female patients with OLP (39.13%) was significantly higher than that in male patients (9.09%)(χ2=10.93,P<0.001). The positivity rate of thyroid peroxidase antibodies (TPOAb) in patients with OLP (17.6%) was significantly higher than in the control group (4.0%) (χ2=10.989, P<0.001). The TPOAb positivity rate was significantly higher in female patients (22.83%) than in male patients (3.03%) (χ2=5.210, P=0.014). There was no statistically significant difference in the positivity rate of TgAb between patients with OLP (7.2%) and the control group (3.2%) (P>0.05). Patients with erosive lesions had a significantly higher TPOAb positivity rate (25.0%, 17/68) compared to those with non-erosive lesions (8.77%, 5/57), and the difference was statistically significant (χ2=4.831, P=0.028). Logistic regression analysis revealed that female patients with OLP had an 8.935-fold higher risk of being TPOAb positive compared to males (OR=8.935, 95%CI: 1.134-70.388, P=0.038). Patients with erosive OLP lesions had a 3.199-fold higher risk of TPOAb positivity compared to those with non-erosive lesions (OR=3.199, 95%CI: 1.064-9.618, P=0.038).
Conclusion
The prevalence of HT is higher in patients with OLP, with higher positivity rates of anti-thyroid antibodies observed in female patients and those with erosive OLP lesions. This suggests that thyroid disease screening should be incorporated into the clinical management of patients with OLP, especially for women and patients who present with erosive lesions.
2.Analysis of oligoclonal bands detection results of 3 217 patients with neurological disorders
Zhenyu NIU ; Haiqiang JIN ; Hongjun HAO ; Yiming ZHENG ; Jing GUO ; Yan YAO ; Feng GAO ; Zhaoxia WANG
Chinese Journal of Laboratory Medicine 2024;47(1):57-64
Objective:To study positive rates and typing of oligoclonal bands (OCB) in patients with neurological disorders, and to reveal the clinical significance and applicational value of OCB test.Methods:A retrospective analysis was performed on the detection results of 3 217 patients with neurological disorders who undertook both serum and cerebrospinal fluid OCBs in the First Hospital of Peking University from January 2012 to August 2022. According to the final diagnosis, the patients were divided into 13 groups including multiple sclerosis (479 cases), neuromyelitis optica spectrum disorders (935 cases), autoimmune encephalitis (192 cases), viral encephalitis (94 cases), nervous system complication after HSCT (232 cases), Guillain-Barré syndrome (644 cases), chronic inflammatory demyelinating polyneuropathy (157 cases), etc. Cerebrospinal fluid and serum OCBs were detected using isoelectric focusing electrophoresis combining immunofixation, then classified into Ⅰ-Ⅴ types according to the morphology. Consequently, positive rates and types were analyzed for each group. χ2 test was used for comparison between groups. Results:The positive rates of cerebrospinal fluid OCB in multiple sclerosis, nervous system complication after hematopoietic stem cell transplantation (HSCT), autoimmune encephalitis, viral encephalitis, neuromyelitis optica spectrum disorders, Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy were respectively 66.8% (320/479), 48.7% (113/232), 46.4%(89/192), 19.1% (18/94), 17.6% (165/935), 9.9% (64/644), 5.1% (8/157). For patients with multiple sclerosis, neuromyelitis optica spectrum disorders, viral encephalitis, and autoimmune encephalitis, Type Ⅱ bands took the majority of cerebrospinal fluid OCB-positive cases with the rates of 94.1% (301/320), 78.7% (70/89), 77.8% (14/18), and 77.6% (128/165) respectively, indicating intrathecal IgG synthesis; for patients with nervous system complication after HSCT, Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy, type Ⅳ bands took the majority of cerebrospinal fluid OCB-positive cases with the rates of 94.7% (107/113), 82.8% (53/64) and 100% (8/8), indicating no obvious intrathecal IgG synthesis. The positive rates of cerebrospinal fluid oligoclonal bands were significantly different among all groups (χ 2=1 268.31, P<0.001). Conclusion:The positive rates of cerebrospinal fluid oligoclonal bands are different among different neurological disorders, in which the positive rate of cerebrospinal fluid OCB is higher with type Ⅱ bands as the majority type in multiple sclerosis, which indicates that the detection and typing of cerebrospinal fluid OCB are helpful for the diagnosis of various neurological diseases, especially for multiple sclerosis.
3.Systemic factors influencing the complexity and surgical prognosis of proliferative diabetic retinopathy
Lijun PU ; Jin LIU ; Zhaoxia MOU ; Songtao YUAN ; Ping XIE ; Qinghuai LIU ; Zizhong HU
Chinese Journal of Experimental Ophthalmology 2024;42(8):729-735
Objective:To evaluate the risk factors for the complexity and surgical prognosis in patients with proliferative diabetic retinopathy (PDR).Methods:A historical cohort study of the CONCEPT trial, including 97 patients (97 eyes) who were diagnosed with PDR and requiring three-channel 23-gauge transconjunctival pars plana vitrectomy (PPV) from June 2017 to January 2018 at the First Affiliated Hospital of Nanjing Medical University.All patients received preoperative intravitreal injection of 0.5 mg conbercpet.Based on the PDR complexity score, patients were divided into >3 group or ≤3 group, and the systematic risk factors were compared between the two groups.The influence of sex, age, hypertension, renal insufficiency, duration of diabetes mellitus, and hemoglobin A1c level on the PDR complexity score was evaluated by multivariate logistic regression analysis.Based on age, patients were divided into <45 years group, 45-<60 years group, and ≥60 years group, and the differences in mean operative time, incidence of intraoperative hemorrhage, surgically induced lacrimation and silicone oil filling, and incidence of hemorrhage on color fundus photos and macular edema by optical coherence tomography at postoperative months 1 and 6 were analyzed among different age groups.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of The First Affiliated Hospital of Nanjing Medical University (No.2017-SR-283).Written informed consent was obtained from each subject.Results:The age of patients with PDR complexity score >3 was 46.5(36.0, 51.8) years, which was less than 54.0(45.5, 61.5) years for PDR complexity score ≤3, and the difference was statistically significant ( Z=1.835, P=0.002).Among the factors predicting PDR complexity score >3, logistic regression analysis indicated that only age was statistically significant ( P=0.005).For each 1-year increase in age, the risk of PDR complexity score >3 would increase by 7.4%( OR: 0.929, 95% CI: 0.883-0.977).Among the systemic factors, there were significant differences in age, history of diabetes, proportion of patients with hypertension and renal insufficiency among the three age groups (all at P<0.05).Among the ocular factors, there were significant differences in the proportion of patients with history of retinal laser treatment, fibrovascular membrane and complexity score >3 among the three groups (all at P<0.05).The proportion of patients with fibrovascular membrane and complexity score >3 in the <45 years group was significantly higher than that in the 45-<60 and ≥60 years groups (all at P<0.05).There were significant differences in the proportion of patients with intraoperative bleeding and silicone oil filling in the three age groups (all at P<0.017).The proportion of intraoperative bleeding and silicone oil filling in <45 years group was significantly higher than that in 45-<60 and ≥60 years groups (all at P<0.05).The macular edema on postoperative month 1 in the <45 years old group was significantly higher than that in the 45-<60 and ≥60 years groups (both at P<0.05). Conclusions:Among systemic factors, age has a significant impact on the increased PDR complexity and contributes to the poor prognosis of patients.There is a higher percentage of intraoperative complications and early postoperative macular edema in patients in the younger age group compared to the older age group.
4.Treatment of multiple adjacent gingival recessions with an acellular dermal matrix or a connective tissue graft: a Meta-analysis.
Zhaoxia CONG ; Yuan LIU ; Jin ZHAO
West China Journal of Stomatology 2022;40(6):690-697
OBJECTIVES:
To evaluate the effectiveness of an acellular dermal matrix or a connective tissue autograft in the treatment of multiple adjacent gingival recessions through Meta-analysis.
METHODS:
Randomized controlled trials were screened in four electronic databases in English according to the inclusion and exclusion criteria until April 20, 2022. The main outcome indicators were keratinized gingival tissue width, recession depth, probing depth, clinical attachment level, complete root coverage, and root coverage esthetic score.
RESULTS:
Seven randomized controlled trials were included. After 12 months, the connective tissue graft in the control group could increase the keratinized gingival tissue width [mean difference (MD)=-0.28 (-0.47, -0.08), P=0.006], reduce the gingival recession depth [MD=0.23 (0.12, 0.35), P<0.000 1], and improve the complete root coverage [risk ratio=0.80, 95% confidence interval (0.69, 0.93), P=0.003] compared with the acellular dermal matrix in the experimental group. No significant difference was found in probing depth, clinical attachment level, and root coverage esthetic score between groups.
CONCLUSIONS
Connective tissue grafts have advantages in increasing the keratinized gingival tissue width, reducing the gingival recession depth, and improving the complete root coverage in surgeries for treating multiple adjacent gingival recessions. Acellular dermal matrices also have some clinical value in terms of operation simplicity and similar effectiveness.
Humans
;
Gingival Recession/surgery*
;
Acellular Dermis
;
Surgical Flaps
;
Esthetics, Dental
;
Connective Tissue/transplantation*
5.Effects of electroacupuncture at Zusanli on duodenal Caspase-1 and GSDMD of rats with functional dyspepsia
Jiabao LIU ; Shuwen JIN ; Zhaoxia KANG ; Yiming LIU ; Li ZHOU ; Feng SHEN ; Paidi XU ; Hongxing ZHANG ; Xiaoli PAN
Chinese Journal of Physical Medicine and Rehabilitation 2022;44(12):1057-1063
Objective:To explore any effect of electroacupuncture (EA) at the Zusanli point on the scorch death of duodenal cells in rats with functional dyspepsia (FD) and possible mechanisms.Methods:Twenty-four 7-day-old Sprague-Dawley rats were randomly divided into a blank group, a model group and an EA group, each of 8. FD was induced in both the model and EA group rats using iodoacetamide gavage with tail-clip stimulation. After successful modeling the EA group was given acupuncture at the Zusanli point and then connected with a Korean acupuncture point nerve stimulator for 2 weeks. The other 2 groups were not given any intervention. The rats′ body weight was recorded before and after the modeling, as well as 7 and 14 days later. The gastric emptying rate and the small intestine propulsion rate of the three groups were detected right after the EA intervention, and the serum expression levels of interleukin-1β (IL-1β) and interleukin-6 (IL-6) were measured using enzyme-linked immunoassays. Real-time fluorescence quantitative polymerase chain reactions were used to detect the transcription levels of IL-1β and IL-6 in the rats′ duodenums, while western blotting was employed to assess the expression of caspase-1 P20 and dermatin D (GSDMD) in their duodenums.Results:After successful modeling, the average body weight of the rats in the model and EA groups was significantly different from that in blank group, and after 7 and 14 days the average body weight of the former groups was significantly different from that of the blank group, with significant differences between the two groups as well. After the EA intervention significant differences were observed in gastric reside and small intestine propulsion rate between the EA group and the model group, as well as between the model and the blank group. After the intervention, there were significant differences between the blank group and the other two groups in the average expression of IL-1β and IL-6 in serum, IL-1β and IL-6 mRNA in the duodenum, as well as the GSDMD and caspase-1 p20 proteins in the duodenum. There were significant differences between the model and EA groups in all of the above measurements.Conclusions:EA at the Zusanli point can significantly reduce the level of scorch death in the duodenum of FD rats, as well as relieve low-grade duodenal inflammation and the clinical symptoms of FD. Its mechanism may be related to the down-regulation of the expression of caspase-1 P20 and GSDMD-N protein, and of inflammatory factors such as IL-1β and IL-6, relieving low-grade duodenal inflammation.
6.Promotion effect of miR-155 on transforming growth factor β2-induced epithelial-mesenchymal transition in human retinal pigment epithelial cells
Yanting WANG ; Xuemin JIN ; Xiaohua LI ; Zhaoxia ZHAO
Chinese Journal of Experimental Ophthalmology 2021;39(1):13-19
Objective:To investigate the effect of microRNA-155(miR-155) on transforming growth factor β2 (TGF-β2)-induced epithelial-mesenchymal transition of human retinal pigment epithelial cells and its mechanism.Methods:The retinal pigment epithelial cell ARPE-19 cell line was used as the research object.The cells cultured with DMEM medium were served as the control group and the cells cultured with DMEM medium containing 10 ng/ml TGF-β2 were served as the TGF-β2 group.The ARPE-19 cells transfected with miR-155 inhibitor were set as the miR-155 inhibitor group and the ARPE-19 cells transfected with miR-155 negative control were set as the miR-155 negative control group, and the cells in the two groups were cultured in DMEM medium containing 10 ng/ml TGF-β2.After 48 hours cell culture, reverse transcription-PCR was used to detect the expression of miR-155 in each group, and scratch migration test and Transwell chamber test were used to detect cell migration and invasion ability, and Western blot was used to detect the expressions of phosphate and tension homology deleted on chromosome ten gene (PTEN), phosphatidylinositol 3-kinase (PI3K), protein kinase B (Akt), p-Akt and epithelial mesenchymal markers E-cadherin (E-cad), zonula occludens protein 1 (ZO-1), F-actin, α-smooth muscle actin (α-SMA), fibronectin 1 (FN-l) vimentin, proteins.The target gene prediction library predicted miR-155 target gene and fluorescein enzyme reporter vectors were used to identify target genes.Results:After 48 hours of culture, the cells in the control group were in good condition with tight adherence and regular shape.The cells in the TGF-β2 group showed more obvious spindle shape with loose arrangement, and most of the cells were fibrous.The relative expression level of miR-155 in the cells of TGF-β2 group was 0.92±0.14, which was significantly higher than 0.35±0.06 of the control group ( t=7.242, P=0.003). The relative expression level of miR-155 in the cells of miR-155 inhibitor group was 0.21±0.03, which was significantly lower than 0.98±0.09 of the miR-155 negative control group ( t=12.421, P<0.01). The migration rate was higher and the number of cells passing through basement membrane was more in the TGF-β2 group than those of the control group, and the migration rate was higher and the number of cells passing through basement membrane of miR-155 was more in the miR-155 negative control group than those of the miR-155 inhibitor group, and the differences were statistically significant (all at P<0.01). Compared with the control group, the relative expression levels of PTEN, E-cad, ZO-1, F-actin protein were decreased, while the relative expression levels of PI3K and the p-Akt/Akt ratio were increased, and the relative expression levels of α-SMA, FN-1, vimentin proteins were increased in the TGF-β2 group, and the differences were statistically significant (all at P<0.01). Compared with the miR-155 negative control group, the relative expression levels of E-cad, ZO-1, F-actin and PTEN proteins were increased, while the relative expression levels of α-SMA, FN-l, vimentin, PI3K and the p-Akt/Akt ratio were decreased in the miR-155 inhibitor group, and the differences were statistically significant (all at P<0.01). Target gene prediction library prediction and luciferase reporter vector identification confirmed that PTEN was a downstream target gene of miR-155. Conclusions:miR-155 can promote the TGF-β2-induced epithelial-mesenchymal transition progress in human retinal pigment epithelial cells, and its mechanism may be related to inhibiting the expression of the target gene PTEN and stimulating the activation of the PI3K/Akt signaling pathway.
7.Advances in metabolic engineering for vitamins production.
Yanyan WANG ; Linxia LIU ; Zhaoxia JIN ; Dawei ZHANG
Chinese Journal of Biotechnology 2021;37(5):1748-1770
Vitamins are organic substances that are essential for the maintenance of life activities. Generally, vitamins need to be obtained from the diet or from some synthetic source as the body cannot synthesize vitamins, or the amounts of the synthesized vitamins are insufficient. At present, vitamins are widely used in medicine, food additives, feed additives, cosmetics and other fields, and the global demand for vitamins is constantly growing. Vitamins can be produced from chemical or microbial synthesis. Chemical synthesis usually requires harsh reaction conditions, produces serious wastes, and creates great potential safety hazard. In contrast, microbial synthesis of vitamins is greener, safer, and requires much less energy input. This review summarizes the advances in metabolic engineering for vitamins production in the past 30 years, with a focus on production of water-soluble vitamins (vitamins B1, B2, B3, B5, B6, B7, B9, B12 and vitamin C precursors) and lipid-soluble vitamins (vitamin A, precursors of vitamin D, vitamin E and vitamin K). Moreover, the bottlenecks for fermentative production of vitamins are discussed, and future perspectives for developing next generation vitamins producing strains using synthetic biotechnology are prospected.
Biotechnology
;
Metabolic Engineering
;
Vitamin A
;
Vitamin K
;
Vitamins/analysis*
8. Reproductive health status and its influencing factors of female employees in an automobile manufacturing industry
Zhaoxia YU ; Dan YUAN ; Xiangjun ZHOU ; Wenlan YU ; Di YANG ; Nan JIN ; Yu CHEN
China Occupational Medicine 2020;47(06):671-675
OBJECTIVE: To analyze the reproductive health status of female employees in an automobile manufacturing industry and its influencing factors. METHODS: By a method of convenient sampling, 989 female employees of an automobile manufacturer were selected as the study subjects. The Female Employees′ Reproductive Health Status Questionnaire was used to investigate and analyze the influencing factors. RESULTS: The prevalence of abnormal menstruation was 23.7%(234/989). The abnormal menstruation was mainly the menstrual cycle disorder, with the prevalence of 15.4%(152/989). The prevalence of reproductive tract infection was 39.1%(387/989), and the top 2 types of infection were cervicitis(12.7%) and vaginitis(12.1%). The results of multivariate logistic regression analysis showed that the risk of abnormal menstruation in night shift workers was higher than that in day shift workers(P<0.05). The risk of abnormal menstruation increased in female workers with the increase of work intensity(P<0.05). Female workers with a history of abortion had higher risk of abnormal menstruation and reproductive tract infection than those without a history of abortion(all P<0.05). Female workers with abnormal menstruation had a higher risk of reproductive tract infection than those with normal menstruation(P<0.01). Married employees had a higher risk of reproductive tract infection than unmarried ones(P<0.01). CONCLUSION: The reproductive health of female workers in the automobile manufacturing industry is related to their marital status, work shift, work intensity and history of abortion.
9.Clinical characteristics of coronavirus disease 2019 patients complicated with pneumothorax: analysis of 7 cases
Liping JIA ; Changfeng WANG ; Yujiao ZHANG ; Yuanyuan YE ; Zhaoxia JIN
Chinese Critical Care Medicine 2020;32(10):1174-1177
Objective:To analyze the clinical characteristics and prognosis of coronavirus disease 2019 (COVID-19) patients complicated with pneumothorax.Methods:The clinical data of 7 COVID-19 patients complicated with pneumothorax admitted to Huanggang Central Hospital from January 3 to March 10, 2020 were retrospectively analyzed. The clinical features, diagnosis and treatment were summarized, and experience in the treatment of COVID-19 was shared.Results:① General information: among the 7 patients, 5 were males and 2 were females. Four of them had no underlying disease, and 1 had a history of diabetes and hypertension. One patient had only a history of hypertension. There were 6 cases of right pneumothorax and 1 case of bilateral pneumothorax. The 7 patients had a long hospital stay, all over 4 weeks, mostly complicated with multiple organ dysfunction. ② Imaging examination: 1 case evolved from the early stage to the advanced stage within 1 week and to the severe stage within 2 weeks. Pneumothorax occurred 4 weeks later, and was absorbed within 2 weeks. The remaining 6 patients presented progressive stage on admission, all of them advanced to severe stage within 1 to 2 weeks, and most of them presented diffused consolidation shadows, striation shadows and fibrosis of both lungs, obvious pleural adhesion, and extremely slow lesion absorption. ③ Treatment: 1 severe patient with pneumothorax 4 weeks after onset was given non-invasive mechanical ventilation. The remaining 6 critically ill patients were treated with endotracheal intubation and mechanical ventilation. Five patients were treated with mechanical ventilation within 3 days after the occurrence of pneumothorax, and 1 patient was treated with mechanical ventilation after 11 days. ④ Outcome: 1 patient without endotracheal intubation was continuously given nasal high-flow oxygen therapy, and the condition was stable. Four of the 6 patients complicated with pneumothorax after endotracheal intubation died, and the other 2 patients successfully removed the drainage tube within 2 weeks of closed thoracic drainage, and their condition gradually stabilized.Conclusion:COVID-19 complicated with pneumothorax is a dangerous disease with poor prognosis, and should be paid adequate attention.
10.The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia
Lulu KANG ; Yupeng LIU ; Ming SHEN ; Zhehui CHEN ; Jinqing SONG ; Ruxuan HE ; Yi LIU ; Yao ZHANG ; Hui DONG ; Mengqiu LI ; Ying JIN ; Hong ZHENG ; Qiao WANG ; Yuan DING ; Xiyuan LI ; Dongxiao LI ; Haixia LI ; Xueqin LIU ; Huijie XIAO ; Yuwu JIANG ; Hui XIONG ; Chunyan ZHANG ; Zhaoxia WANG ; Yun YUAN ; Desheng LIANG ; Yaping TIAN ; Yanling YANG
Chinese Journal of Pediatrics 2020;58(6):468-475
Objectives:To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention.Methods:Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR. According to the age of onset, the patients were divided to early-onset group (≤12 months of age) and the late-onset group (>12 months of age). They were treated by cobalamin, L-carnitine and (or) special diet and symptomatic treatment. Statistical analysis was done using Chi-square test.Results:Fifty-eight of 314 (18.5%) patients were detected by Newborn screening using liquid chromatography tandem mass spectrometry. Five cases (1.6%) had a postmortem diagnosis. Two hundred and fifty-one patients (79.9%) were clinically diagnosed with an age of onset ranged from 3 hours after birth to 18 years. One hundred and fifty-nine patients (71.0%) belonged to early-onset groups, 65 patients (29.0%) belonged to the late-onset group. The most common symptoms were metabolic crises, psychomotor retardation, epilepsy, anemia and multiple organ damage. Metabolic acidosis and anemia were more common in early-onset patients than that in late-onset patients (20.8%(33/159) vs. 9.2% (6/65), 34.6% (55/159) vs. 16.9% (11/165), χ 2=4.261, 6.930, P=0.039, 0.008). Genetic tests were performed for 236 patients (75.2%), 96.2%(227/236) had molecular confirmation. One hundred and twenty-seven variants were identified in seven genes (MMUT, MMAA, MMAB, MMADHC, SUCLG1, SUCLA2, and MCEE), of which 49 were novel. The mut type, caused by the deficiency of methylmalonyl-CoA mutase, was the most common ( n=211, 93%) cause of this condition. c.729_730insTT, c.1106G>A and c.914T>C were the three most frequent mutations in MMUT gene. The frequency of c.914T>C in early-onset patients was significantly higher than that in late-onset patients (8.3% (18/216) vs. 1.6% (1/64), χ 2=3.859, P=0.037). Metabolic crisis was more frequent in mut type than the other types (72.6% (114/157) vs. 3/13, χ 2=13.729, P=0.001),developmental delay and hypotonia were less frequent in mut type (38.2% (60/157) vs. 9/13, 25.5% (40/157) vs. 8/13, χ 2=4.789, 7.705, P=0.030, 0.006). Of the 58 patients identified by newborn screening, 44 patients (75.9%) who were treated from asymptomatic phase developed normally whereas 14 patients (24.1%) who received treatment after developing symptoms exhibited varying degrees of psychomotor retardation. Conclusions:The characteristics of phenotypes and genotypes among Chinese patients with isolated methylmalonic acidemia were analyzed. Expanded the mutation spectrum of the associated genes. Because of the complex clinical manifestations and severe early onset of isolated methylmalonic acidemia, Newborn screening is crucial for early diagnosis and improvement of prognosis. MMUT gene is recommended for carrier screening as an effort to move the test earlier as a part of the primary prevention of birth defects.


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