Analysis of the influencing factors of vault after the implantation of posterior chamber-phakic refractive lens for patients with super high myopia / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To investigate the influencing factors of vault after the posterior chamber phakic refractive lens(PC-PRL)implantation for patients with super high myopia.METHODS: Retrospective case study. A total of 40 patients with super high myopia(77 eyes)who underwent PC-PRL implantation in the Haixiang Eye Hospital from January 2019 to January 2021 were selected. They were followed up for at least 2a, postoperative anterior segment parameters, such as the uncorrected visual acuity(UCVA), best corrected visual acuity(BCVA), central anterior chamber depth(ACD), anterior chamber volume(ACV), anterior chamber angle(ACA), lens thickness and vault were evaluated, and then the influencing factors of postoperative vault were analyzed.RESULTS: The UCVA and BCVA of the patients significantly improved after PC-PRL implantation(P<0.001). Average safety index(postoperative BCVA/preoperative BCVA)was 1.36±0.32, and average effective index(postoperative UCVA/preoperative BCVA)was 1.23±0.31 in 2a after surgery. The vault in 2a after surgery was correlated with preoperative ACD, ACV, ACA and lens thickness, and the preoperative ACV and lens thickness had significant impact on vault in 2a after surgery.CONCLUSIONS: The PC-PRL implantation is safe and effective in super high myopia, and it can significantly improve visual acuity. Furthermore, preoperative ACV and lens thickness are important influencing factors of postoperative vault.

Genomic epidemiology of Vibrio parahaemolyticus from acute diarrheal patients in Shenzhen City from 2013 to 2021 / 中华预防医学杂志

Objective: To characterize the prevalence and genomic epidemiology of Vibrio parahaemolyticus from acute diarrheal patients in Shenzhen City from 2013 to 2021. Methods: Based on the Shenzhen Infectious Diarrhea Surveillance System, acute diarrheal patients were actively monitored in sentinel hospitals from 2013 to 2021. Whole-genome sequencing (WGS) of Vibrio parahaemolyticus isolates was performed, and the genomic population structure, serotypes, virulence genes and multilocus sequence typing were analyzed. Outbreak clusters from 2019 to 2021 were explored based on single-nucleotide polymorphism analysis. Results: A total of 48 623 acute diarrhea cases were monitored in 15 sentinel hospitals from 2013 to 2021, and 1 135 Vibrio parahaemolyticus strains were isolated, with a positive isolation rate of 2.3%. Qualified whole-genome sequencing data of 852 isolates were obtained. Eighty-nine serotypes, 21 known ST types and 5 new ST types were identified by sequence analysis, and 93.2% of strains were detected with toxin profile of tdh+trh-. 8 clonal groups (CGs) were captured, with CG3 as the absolute predominance, followed by CG189. The CG3 group was dominated by O3:K6 serotype and ST3 sequence type, while CG189 group was mainly O4:KUT, O4:K8 serotypes and ST189a and ST189 type. A total of 13 clusters were identified, containing 154 cases. About 30 outbreak clusters with 29 outbreak clusters caused by CG3 strains from 2019 to 2021. Conclusion: Vibrio parahaemolyticus is a major pathogen of acute infectious diarrhea in Shenzhen City, with diverse population structures. CG3 and CG189 have been prevalent and predominant in Shenzhen City for a long time. Scattered outbreaks and persistent sources of contamination ignored by traditional methods could be captured by WGS analysis. Tracing the source of epidemic clone groups and taking precise prevention and control measures are expected to significantly reduce the burden of diarrhea diseases caused by Vibrio parahaemolyticus infection in Shenzhen City.

Clinical effect of peroneal fracture line in the treatment of posterior Pilon fracture / 中华骨科杂志

Objective:To investigate the clinical effect of peroneal fracture line in the treatment of posterior Pilon fracture.Methods:The data of 26 patients treated with fibular fracture line from January 2017 to July 2019 were analyzed retrospectively, including 11 males and 15 females; the age ranged from 28 to 69 years, with an average of 42.2 years. There were 10 cases of falling injury, 9 cases of falling injury and 7 cases of traffic injury; all of them were fresh closed fibular fractures;According to Yu Guangrong's classification, there were 11 cases of type I, 8 cases of type II and 7 cases of type III; AGH was divided into 10 cases of type I, 5 cases of type IIa, 2 cases of type IIb, 5 cases of type IIIa and 4 cases of type IIIb. All cases were treated by opening the fibular fracture line through the posterolateral approach, the quality of fracture reduction was evaluated by Burwell Charnley radiological evaluation standard after operation; At the last follow-up, ankle function was evaluated by American Association of Foot and Ankle surgery (AOFAS) ankle and hindfoot scores.Results:All 26 patients were followed up for 12-23 months, with an average of 14.9 months; Bone healing was achieved in all fractures. The healing time was 3-6 months, with an average of 4.0 months. The quality of fracture reduction was evaluated according to the Burwell Charnley radiology evaluation standard after operation, including anatomical reduction in 23 cases and acceptable reduction in 3 cases. The anatomical reduction rate was 88% (23/26). At the last follow-up, AOFAS ankle and hindfoot scores ranged from 80 to 100, with an average of 89.9 points, of which 17 cases were excellent and 9 cases were good, and the excellent and good rate was 100%. At the last follow-up, no patient had complications such as reduction loss, skin necrosis, infection, internal fixation loosening or ankle stiffness.Conclusion:After the treatment of Pilon fractures via peroneal fracture line, the distal tibial articular surface and posterior ankle fracture gap can be fully exposed, which can be repositioned and fixed under direct vision, with high anatomical repositioning rate and good and safe clinical results.

Periprostatic fat thickness measured on MRI correlates with lower urinary tract symptoms, erectile function, and benign prostatic hyperplasia progression / 亚洲男科学杂志(英文版)

This study investigated the correlation between periprostatic fat thickness (PPFT) measured on magnetic resonance imaging and lower urinary tract symptoms, erectile function, and benign prostatic hyperplasia (BPH) progression. A total of 286 treatment-naive men diagnosed with BPH in our department between March 2017 and February 2019 were included. Patients were divided into two groups according to the median value of PPFT: high (PPFT >4.35 mm) PPFT group and low (PPFT <4.35 mm) PPFT group. After the initial evaluation, all patients received a combination drug treatment of tamsulosin and finasteride for 12 months. Of the 286 enrolled patients, 244 completed the drug treatment course. Patients with high PPFT had larger prostate volume (PV; P = 0.013), higher International Prostate Symptom Score (IPSS; P = 0.008), and lower five-item version of the International Index of Erectile Function (IIEF-5) score (P = 0.002) than those with low PPFT. Both high and low PPFT groups showed significant improvements in PV, maximum flow rate, IPSS, and quality of life score and a decrease of IIEF-5 score after the combination drug treatment. The decrease of IIEF-5 score was more obvious in the high PPFT group than that in the low PPFT group. In addition, more patients in the high PPFT group underwent prostate surgery than those in the low PPFT group. Moreover, Pearson's correlation coefficient analysis indicated that PPFT was positively correlated with age, PV, and IPSS and negatively correlated with IIEF-5 score; however, body mass index was only negatively correlated with IIEF-5 score.

Preliminary research of / 中国针灸

OBJECTIVE@#To explore the impacts on weight reduction effect treated with acupoint thread embedding therapy at different tissue levels under ultrasonic guidance.@*METHODS@#A total of 70 patients with overweight or obesity were randomized into a shallow-tissue thread embedding group (35 cases, 5 cases dropped off) and a deep-tissue thread embedding group (35 cases, 4 cases dropped off). Under ultrasonic guidance, the thread was embedded in the shallow tissue level and the deep tissue level respectively. The acupoints were Zhongwan (CV 12), Xiawan (CV 10), Shuifen (CV 9), Zhongji (CV 3), etc. The thread embedding therapy was exerted once every 2 weeks, totally for 3 times. Before and 2 weeks after treatment, body mass, body mass index (BMI), waist circumference and hip circumference were recorded in the patients of the two groups separately. After each treatment, the number and the property of blood vessels under each acupoint were detected by ultrasound. Besides, the needling sensation and the intensity were scored and the adverse events were observed after thread embedding therapy.@*RESULTS@#After treatment, the reduction range of body mass, BMI and waist circumference in the deep-tissue thread embedding group were larger than those in the shallow-tissue thread embedding group successively (@*CONCLUSION@#The deep-tissue thread embedding therapy achieves the stronger

Newborn screening for Citrin deficiency and molecular characteristics of SLC25A13 variants in Guangzhou population / 中华实用儿科临床杂志

Objective:To investigate the sensitivity of newborn screening for neonatal intrahepatic cholestasis caused by Citrin deficiency (NICCD) based on tandem mass spectrometry and the carrying rate of known pathogenic variants of SLC25A13 in Guangzhou population. Methods:A total of 124 250 neonates born in Guangzhou from January 1, 2015 to December 31, 2018 were performed newborn screening for NICCD by tandem mass spectrometry technology. SLC25 A13 gene mutation analysis was performed to diagnose patients with suspected NICCD.The carrying rate of known pathogenic variants of the SLC25 A13 gene in the whole exon sequencing results of 2 395 healthy children in Guangzhou was retrospective analyzed. Results:Among the 124 250 screened neonates, 31 cases were screened positive for NICCD and one of them was confirmed.Three false negative patients with NICCD were found in this cohort.NICCD screening sensitivity was 25%(1/4 cases). All of the four patients were homozygous for c. 851_854del of SLC25A13.Among 2 395 controls, 60 cases were detected heterozygous variant of SLC25A13, including 8 kinds of reported pathogenic variants.The carrying rate of pathogenic alleles was 1/40 (60/2 395 cases). The estimated prevalence of citrin deficiency was about 1/6 400.The most common variant was c. 851_854del (56.7%, 34/60 cases), and the second was c. 790G>A (23.3%, 14/60 cases). The controversial variant c. 2T>C was detected in 113 children with heterozygous and 2 cases with homozygous and the carrying rate of c. 2T>C was 1/20(117/2 395 cases). Conclusions:The carrying rate of pathogenic variants of SLC25A13 and the estimated prevalence of Citrin deficiency in Guangzhou population are high.The sensitivity of newborn screening for NICCD by tandem mass spectrometry is limited.Even if the negative results for screening of multiple genetic and metabolic diseases by tandem mass spectrometry, it is recommended to recheck blood for newborns or infants with delayed jaundice to avoid missed diagnosis.

Loss of GRB2 associated binding protein 1 in arteriosclerosis obliterans promotes host autophagy / 中华医学杂志(英文版)

BACKGROUND@#Arteriosclerosis obliterans (ASO) is a major cause of adult limb loss worldwide. Autophagy of vascular endothelial cell (VEC) contributes to the ASO progression. However, the molecular mechanism that controls VEC autophagy remains unclear. In this study, we aimed to explore the role of the GRB2 associated binding protein 1 (GAB1) in regulating VEC autophagy.@*METHODS@#In vivo and in vitro studies were applied to determine the loss of adapt protein GAB1 in association with ASO progression. Histological GAB1 expression was measured in sclerotic vascular intima and normal vascular intima. Gain- and loss-of-function of GAB1 were applied in VEC to determine the effect and potential downstream signaling of GAB1.@*RESULTS@#The autophagy repressor p62 was significantly downregulated in ASO intima as compared to that in healthy donor (0.80 vs. 0.20, t = 6.43, P < 0.05). The expression level of GAB1 mRNA (1.00 vs. 0.24, t = 7.41, P < 0.05) and protein (0.72 vs. 0.21, t = 5.97, P < 0.05) was significantly decreased in ASO group as compared with the control group. Loss of GAB1 led to a remarkable decrease in LC3II (1.19 vs. 0.68, t = 5.99, P < 0.05), whereas overexpression of GAB1 significantly led to a decrease in LC3II level (0.41 vs. 0.93, t = 7.12, P < 0.05). Phosphorylation levels of JNK and p38 were significantly associated with gain- and loss-of-function of GAB1 protein.@*CONCLUSION@#Loss of GAB1 promotes VEC autophagy which is associated with ASO. GAB1 and its downstream signaling might be potential therapeutic targets for ASO treatment.

Changes of EPO in rats with chronic renal failure and low immunity and reversal effects of Yougui Yin and exogenous EPO / 中国中药杂志

The aim of this paper was to observe the changes of EPO in rats with chronic renal failure and low immunity induced by adenine and to investigate the reversal effect of Yougui Yin(YGY)and exogenous EPO.SD rats were randomly divided into normal control group(n=20)and adenine-model group(n=90).The adenine-model group rats were given with adenine 150 mg·kg~(-1)for 14days by gavage administration,and then randomly divided into 8 groups as follows:model group(n=20),YGY groups(10,20,40 g·kg~(-1),10 in each group),rh EPO group(500,1 000,1 500 IU·kg~(-1),10 in each group),and Guilu Erxian Gao 10 g·kg~(-1)group(positive control group,n=10).From the 15th day,every group except normal control group received 150 mg·kg~(-1)adenine by gavage administration once every two days to maintain the model.Meanwhile,the rats in each YGY group and Guilu Erxian Gao group received corresponding drugs by gavage administration once a day for 30 days.The rats in rh EPO groups were subcutaneously injected with rh E-PO once every 3 days for 30 days.On day 46,rats were anesthetized to take blood and then sacrificed.The serum levels of creatinine,urea,glandular hormone,immunoglobulin,complement and interleukin,the proportion of T cells in the spleen,the killing rate of NKcells and the proliferative capacity of spleen cells were measured.Western blot was used to detect the key proteins in JAK2-STAT5 and NF-κB pathways mediated by EPO in kidney and spleen.As compared with the normal control group,the serum levels of CREA and UREA were increased significantly and the serum levels of ACTH,T and T3 were decreased significantly in the model group rats,indicating that the functions of kidney,adrenal gland,gonad and thyroid in rats were decreased.At the same time,the serum levels of Ig A,Ig G,Ig M,C3,C4,IL-2 and IL-6 were significantly decreased,the proportion of CD4~+,CD4~+/CD8~+T cell subsets,the killing rate of NK cell and the proliferation ability of spleen lymphocyte in spleen of the model group rats were significantly declined,indicating that the immune function of model group rats was decreased,and the model of kidney deficiency immunodeficiency was successfully constructed.As compared with the model group,both YGY and rh EPO significantly reduced serum levels of CREA and UREA,significantly increased serum levels of ACTH,T,T3,T4,Ig A,Ig G,Ig M,C3,C4,IL-2,and IL-6,increased the proportion of CD4~+,CD4~+/CD8~+T cell subsets,the killing rate of NK cell and the proliferation ability of spleen lymphocyte in spleen.YGY could significantly increase the content of EPO in serum.Both YGY and rh EPO could regulate the expression of EPOR,p-JAK2/JAK2,STAT5,NF-κB p50,NF-κB p65 and NF-κB IκB of EPO-mediated JAK2-STAT5 and NF-κB pathways in kidney and spleen.EPO is an important factor in the chronic renal failure and low immunity induced by adenine in rats.Exogenous EPO and YGY have significant reversal effects for the model rats.The mechanism of YGY may be related to the up-regulation of EPO in serum and regulating the expression of key proteins in EPO-mediated JAK2-STAT5 and NF-κB pathways in kidney and spleen.The mechanism of exogenous EPO may be related to regulating the expression of the key proteins in EPO-mediated JAK2-STAT5 and NF-κB pathways in kidney and spleen.

DUOX2 hotspots variants and outcomes of patients with congenital hypothyroidism suspected thyroid dyshormonogenesis / 中华实用儿科临床杂志

Objective@#To investigate prospectively molecular and clinical characteristics of infants with congenital hypothyroidism (CH) caused by DUOX2 mutations in Guangzhou.@*Methods@#A population-based cohort of 83 patients with CH were recruited based on newborn screening results among 108 899 newborns who were born in Guangzhou between April 1 and September 30 in 2015.Genetic analysis of DUOX2 hotspots(including 11 exons)by PCR-direct sequencing was performed in 52 patients with suspected thyroid dyshormonogenesis (SDH) according to thyroid ultrasound at diagnosis.All the patients were followed up for 3 years.The data of this cohort study(prevalence of CH, detection rate of DUOX2, clinical features) were compared with those of 96 patients with SDH in 2011-2012.@*Results@#(1) The incidence of CH in 2015 was 1∶1 312, and 73.5%(61/83 cases) of CH patients were classified as SDH.Compared with those founded in 2011-2012, the incidence of CH was increased (1∶1 312 vs.1∶2 779), and the difference was significant (P<0.001), while the frequency of SDH was not different significantly (73.5%vs.76.6%, P=0.593). (2)There were 27 cases(51.9%) with SDH detected DUOX2 hotspots variants, including 6 cases with biallelic variants, 21 cases with monoallelic variants, and 1 possible new pathogenic variant p. S1091F.The p. K530X was the most common mutation accounting for 51.5%(17/33 cases) detected allelic and involving in 16 cases (30.8%) with SDH.Novel p. S1091F variant was probably damaging variant.Both detected rate and spectrum of DUOX2 variant were not significantly different compared with those in 2011-2012 (all P>0.05). (3) There were no significant differences in the levels of thyrotropin (bsTSH), serum TSH (sTSH), free thyroxine (FT4) and thyroglobulin in neonates with dry blood spot at diagnosis between children with DUOX2 and without DUOX2 variants cases(all P>0.05). Among 27 cases, 24(88.9%) patients with DUOX2 mutation were transient CH, and 3 cases were permanent CH.@*Conclusions@#The incidence of CH was increased in last few years in Guangzhou.Most of them were SDH, and 51.9% of SDH cases had DUOX2 hotspots variants.Temporary CH is the main clinical outcome.The p. K530X was the most common mutation in this cohort population.

DUOX2 hotspots variants and outcomes of patients with congenital hypothyroidism suspected thyroid dyshormonogenesis / 中华实用儿科临床杂志

Objective To investigate prospectively molecular and clinical characteristics of infants with congenital hypothyroidism (CH) caused by DUOX2 mutations in Guangzhou.Methods A population-based cohort of 83patients with CH were recruited based on newborn screening results among 108 899 newborns who were born in Guangzhou between April 1 and September 30 in 2015.Genetic analysis of DUOX2 hotspots(including 11 exons) by PCR-direct sequencing was performed in 52 patients with suspected thyroid dyshormonogenesis (SDH) according to thyroid ultrasound at diagnosis.All the patients were followed up for 3 years.The data of this cohort study(prevalence of CH,detection rate of DUOX2,clinical features) were compared with those of 96 patients with SDH in 2011-2012.Results (1) The incidence of CH in 2015 was 1 ∶ 1 312,and 73.5％ (61/83 cases) of CH patients were classified as SDH.Compared with those founded in 2011-2012,the incidence of CH was increased (1 ∶ 1 312 vs.1 ∶ 2 779),and the difference was significant (P ＜ 0.001),while the frequency of SDH was not different significantly (73.5 ％ vs.76.6％,P =0.593).(2) There were 27 cases (51.9％) with SDH detected DUOX2 hotspots variants,including 6 cases with biallelic variants,21 cases with monoallelic variants,and 1 possible new pathogenic variant p.S1091F.The p.K530X was the most common mutation accounting for 51.5％ (17/33 cases) detected allelic and involving in 16 cases (30.8％) with SDH.Novel p.S1091F variant was probably damaging variant.Both detected rate and spectrum of DUOX2 variant were not significantly different compared with those in 2011-2012 (all P ＞ 0.05).(3) There were no significant differences in the levels of thyrotropin (bsTSH),serum TSH (sTSH),free thyroxine (FT4) and thyroglobulin in neonates with dry blood spot at diagnosis between children with DUOX2 and without DUOX2 variants cases (all P ＞ 0.05).Among 27 cases,24 (88.9％) patients with DUOX2 mutation were transient CH,and 3 cases were permanent CH.Conclusions The incidence of CH was increased in last few years in Guangzhou.Most of them were SDH,and 51.9％ of SDH cases had DUOX2 hotspots variants.Temporary CH is the main clinical outcome.The p.K530X was the most common mutation in this cohort population.

Pilot study on the adjustment of the cut-off value for congenital hypothyroidism screening according to the age at sampling / 中国新生儿科杂志

Objective To study the influence of postnatal age and season of sample collection on congenital hypothyroidism (CH) screening and to determine the appropriate cut-off value. Method From January 2015 to December 2017, neonatal thyroid stimulating hormone (TSH) screening data in Guangzhou were retrospectively analysed. The infants were assigned into four groups according to sampling postnatal age:24～＜48 h, 48～＜72 h, 3～＜7＜d and≥7 d, and assigned into another four groups according to their birth seasons. Based on the data of 2015 and 2016, the cut-off value of TSH for hypothyroidism were adjusted. The data of 2017 were used to verify the accuracy of the adjusted cut-off value. The cut-off value was determined based on the receiver operating characteristic (ROC) curve and percentile method. Specificity, sensitivity, positive predictive value (PPV) and negative predictive value (NPV) of the cut-off value were also calculated. Result A total of 459854 newborns were screened from 2015 to 2016. 7329 were positive in preliminary screening, 371 were still positive after recall for re-examination, and 318 were confirmed with CH eventually. The optimal TSH cut-off value calculated using ROC curve was 9 mIU/L, with a percentage of 98.7. The cut-off value with sampling time≥48 h was set to 9 mIU/L in spring, summer and autumn, and 10 mIU/L in winter. The cut-off of sampling time 24～＜48 h was set to 10 mIU/L in all seasons. The data of 264993 newborns screened in 2017 were verified using the adjusted cut-off value. The overall positive rate was reduced from 1.27％to 1.02％, and the PPV was increased from 6.07％to 7.58％without adding false negative cases. Conclusion Adjusting cut-off values of TSH for CH screening according to postnatal age and season can effectively reduce false positive rates.

Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou / 中华儿科杂志

Objective@#To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou.@*Methods@#G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PD<1 700 U/L or G6PD/6PGD<1 in red blood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA.@*Results@#(1) Using the cutoff value of G6PD< 2.6 U/g Hb , a total of 687(4.2%) newborns showed positive screening results, including 560 (6.4%) males and 127(1.7%) females. (2) Among the newborns with positive screening results, 214 males and 122 females were randomly chosen for G6PD gene analysis. The results showed that 197 (92.1%) males were hemizygote and 108(88.6%) females were mutation carriers with one to four alleles. Among the newborns with negative screening results, 41 males with G6PD 2.6-2.8 U/g Hb and 436 females with G6PD 2.6-4.5 U/g Hb were chosen for genetic analysis.Mutations were detected in 5(12.2%)boys, and 226(51.8%) girls were carriers.G6PD gene Sanger sequency of seven highly suspicious patients showed that c.406C>T, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PD<2.6 U/g Hb yielded a positive predict value(PPV) of 93.5%, a false-positive rate of 0.5%, and a sensitivity of 99.0% for males. A PPV of 88.5%, a false-positive rate of 0.2% . The prevalence of severe type G6PD deficiency in females was about 1.5%. Compared with to genetic analysis, the sensitivity and PPV of G6PD activity assay in red blood cells were 95.5%, 97.2%, respectively.@*Conclusions@#The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will improve the accuracy of diagnosis of G6PD deficiency and detect more heterozygous females.

Analysis of the impact of county medical alliance on patient flows under the NRCMS: A case study of Dingyuan county of Anhui Province / 中国卫生政策研究

Objective:This study is conducted to analyze the impact of county medical alliance on patient flows under the NRCMS in Dingyuan county of Anhui province. Methods: data on patient-flow were collected through the NRCMS information platform and related policy documents for 2015-2016, and interviews were conducted to study the main reform practices in the county medical alliance. Results: The patient flow under the NRCMS varied in the way of 1) the total number of inpatients seeking treatment outside of the county decreased by 3.31%;2) the treat-ment volume of county-level hospitals and township health centers were increasing,and the latter one is growing faster than the former,meanwhile,the treatment volume of the village clinics declined,and 3) the hospitalization expenses per inpatient for patients who seek treatment outside the county are much higher than the expenses incurred within the county. Conclusions:the development of county-level medical alliance has influence on patients with common disea-ses who used to seek treatment by helping to reduce the number of inpatients outside the county and reduce the pres-sure of the new rural cooperative fund. However, significant problems still exist such as shortage of talented practi-tioners,and lagging development of information technology system.

Comparison of the clinical value of MRI classification system of deep gray matter injury in children with cerebral palsy / 西安交通大学学报(医学版)

Objective To investigate the reliability of MRI classification and clinical significance of deep gray matter injury(DGMI)in children with cerebral palsy(CP).Methods We made a retrospective assessment of 14 children with gross motor function classification system(GMFCS),manual ability classification system(MACS)and MRI classification system of deep gray matter injury.Based on T2WI,two radiologists worked independently and graded MRI pictures according to three-grading system and four-grading system.To evaluate the reliability of different grading systems,intra-observer and inter-observer agreements were tested by Kappa test.Spearman correlation analysis was performed to analyze the MRI classification system with GMFCS and MACS.Results The Kappa value of the intro-observer and inter-observe agreement of three-grading system was 0.873 and 0.873,respectively (P＜0.001).The Kappa value of the intro-observer and inter-observe agreement of four-grading system was 0.901 and 0.611(P＜0.001).Three-grading system had no significant correlation with GMFCS(r=0.053,P＞0.05)or MACS(r=0.128,P＞0.05).Four-grading system had a significant positive correlation with GMFCS(r=0.605, P＜0.05)and MACS(r=0.779,P＜0.05).Conclusion In the two grading systems,four-grading system is a more repeatable approach for detecting deep gray matter,gross motor function and manual function injuries in children with cerebral palsy.

Pyruvate dehydrogenase activity and pyruvate dehydrogenase kinase 4 expression in skeletal muscle of end-stage renal disease patients / 上海交通大学学报（医学版）

Objective·To explore the changes of pyruvate dehydrogenase (PDH) activity and pyruvate dehydrogenase kinase 4 (PDK4) expression in the end-stage renal disease (ESRD) patients' skeletal muscles. Methods·Skeletal muscle samples were collected from non-chronic kidney disease (non-CKD) patients and ESRD patients. PDH activity was detected by ELISA assay. Real-time qPCR was performed to examine gene transcription levels of PDK1-PDK4 and PDH subunits.Western blotting analysis was used to detect protein expression levels of PDK1 and PDK4. Results·There were no demographic differences between two groups of patients. Plasma creatinine and urea nitrogen were significantly elevated in ESRD group (both P<0.05), while estimated glomerular filtration rate, hemoglobin and plasma albumin in ESRD group were significantly lower than those in non-CKD group (all P<0.05).Skeletal muscle PDH activity in ESRD group was markedly lower than that in non-CKD group(P=0.014).There were no differences in PDK1-PDK4 and PDH subunits mRNA transcription levels between ESRD and non-CKD group.PDK4 protein expression was significantly higher than that in non-CKD group (P=0.000). Conclusion·The decreased PDH activity in ESRD patients' skeletal muscle may be related to up-regulation of PDK4.

Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the characteristics of DUOXA2 gene mutation and the genotype-phenotype relationship in children with congenital hypothyroidism (CH) in Guangzhou, China.</p><p><b>METHODS</b>A total of 20 CH patients with suspected thyroid dyshormonogenesis who had no DUOX2 gene mutation were enrolled. These patients who were born between 2011 and 2012 were screened and diagnosed with CH in the Guangzhou Newborn Screening Center. PCR and direct sequencing were used to analyze DUOXA2 gene mutation.</p><p><b>RESULTS</b>Among the 20 patients, 2 had p.Y246X/p.Y246X homozygous mutation; 4 had monoallelic heterozygous mutation, among whom 2 carried the known pathogenic mutation c.413-414insA, 1 carried p.Y246X, and 1 carried a novel mutation, p.G79R. Reevaluation was performed at the age of 2-3 years, and the results showed that the two patients with p.Y246X/p.Y246X homozygous mutation were manifested as transient and mild permanent CH, respectively. Among the four patients with monoallelic heterozygous mutation, the one who carried p.Y246X mutation was manifested as typical permanent CH, and the other three were manifested as transient CH.</p><p><b>CONCLUSIONS</b>DUOXA2 gene mutation is a common molecular pathogenic basis for CH children with suspected thyroid dyshormonogenesis in Guangzhou, and most of them are manifested as transient CH. There is no association between DUOXA2 genotypes and phenotypes. The novel mutation p.G79R is probably a pathogenic mutation.</p>

A sketch of the overlap in the neural circuitry underlying psychological- and physical-pain / 生理学报

From the phenomenological point of view, pain can be classified into psychological-pain and physical-pain. Emerging evidence has shown that the psychological- and physical-pain recruit overlapping neural activity in regions associated with the affective component of pain, and share some common pain circuits, e.g., the dorsal anterior cingulate cortex (dACC) and the anterior insula (AI) play important roles in both psychological- and physical-pain. Therefore, understanding the way in which psychological- and physical-pain demonstrate either similarity or discrepancy may provide new insights into the relationship between the two types of experiences and potential targets for treating psychological suffering. This review summarizes research progress that has been obtained through experiments conducted in human and nonhuman animals to discuss the similarity, discrepancy and interaction between psychological- and physical-pain. The important next steps, e.g., uncovering the mechanisms underlying the overlap of psychological- and physical-pain; and whether chronic psychological-pain shapes brain plasticity as physical-pain does, are also discussed.

Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis / 中华儿科杂志

Objective@#To explore the TPO, DUOX2 and DUOXA2 genotypes and phenotypes of children with permanent congenital hypothyroidism(PCH) suspected dyshormonogenesis in Guangzhou, identified and treated at Guangzhou Newborn Screening Center. Six of them were born between 2011 and 2012.@*Method@#Retrospectively analyzed the clinical data of 9 children with PCH suspected dyshormonogenesis. Genetic analysis of TPO, DUOX2 and DUOXA2 genes were performed with Sanger sequencing.@*Result@#Of the 9 patients, four were identified variants in TPO gene including three cases with biallelic variants and one case with monoallelic variant. Novel c. 1784G>C( p. R595T) variant in TPO was predicted to be damaging by SIFT and PolyPhen-2. Four patients harbored monoallelic known variants in DUOX2 gene and the other one harbored heterozygous known mutation c. 738C>G(p.Y246X) in DUOXA2 gene.Two adolescent patients with biallelic variants in TPO gene showed classical PCH phenotypes with thyroid goiter or nodules. The six patients with monoallelic variant in TPO, DUOX2 or DUOXA2 presented variable phenotypes. Among the 433 578 newborns in the 2011-2012 cohort, there were 156 cases of CH. Six of these cases were PCH suspected dyshormonogenesis, among which 1 case was confirmed TPO biallelic variants and 5 cases were monoallelic variants of TPO, DUOX2, or DUOXA2 genes.@*Conclusion@#TPO and DUOX2 variants are the common molecular pathogenesis in children with PCH suspected dyshormonogenesis. Monoallelic variants in TPO, DUOX2 or DUOXA2 are associated with PCH and showed wide variability in their phenotypes. The novel variant p. R595T in TPO is probably a pathologic variant. The prevalence of PCH caused by TPO gene defects is rare in Guangzhou.

Safety and effect of femtosecond laser-assisted cataract surgery combined with Cionni capsular tension ring implantation in the management of traumatic lens subluxation / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To investigate the safety and effect of femtosecond laser-assisted cataract surgery with Cionni modified capsular tension ring (MCTR) implantation in the management of traumatic lens subluxation.METHODS: Totally 11 patients (11 eyes) with traumatic lens subluxation were divided into three groups according to the severity of lens dislocation, ranging from 90° to 120° (4 eyes), 120° to 180° (5 eyes) and 180° to 270° (2 eyes).The contact LenSx femtosecond laser cataract surgery platform was applied to create the capsulotomy, prepare nuclear fragmentation and make corneal wound creation.Anterior vitrectomy was performed in some patients during the surgery.After capsular retractors insertion and phacoemulsification, the MCTR was inserted to the capsular bag and fixed to the sclera.Finally, the IOL was implanted into the capsular bag.Postoperative visual acuity, intra-and post-operative complications, anterior capsular opening, IOL and MCTR position and intraocular pressure (IOP) were assessed.RESULTS:The duration of follow-up was 2mo.All the operations were completed successfully.Five eyes underwent cataract surgery combined with anterior vitrectomy.Four eyes had been inserted with 2-eyelet MCTR and seven eyes with 1-eyelet MCTR.The best corrected visual acuity (BCVA) after operation was better than 0.5 in 4 eyes, between 0.3 and 0.5 in 3 eyes, between 0.1 and 0.3 in 3 eyes, and less than 0.1 in 1 eye.Compared with preoperative BCVA, the difference was statistically significant (P<0.05).All the IOLs were stably centered and the eyelet of MCTR was fixated steadily between the iris and the anterior capsule.The common intra-and post-operative complications were subconjunctival hemorrhage, incomplete capsulotomy, residual cortex, secondary glaucoma and posterior capsular opacification.CONCLUSION:Femtosecond laser-assisted cataract surgery can improve the success rate of capsulorhexis, and reduce the difficulty of nuclear fragmentation.Femtosecond laser-assisted cataract surgery combined with MCTR implantation is an ideal surgical method for traumatic lens subluxation.

Effect of Neu-P11 on retinal GFAP protein expression and IOP of acute high IOP rats / 眼科新进展

Objective To explore the effects of the new melatonin nonselective agonists Neu-P11 on intraocular pressure (IOP) and glial fibrillary acid protein (GFAP) expression in the retina of acute high IOP rat.Methods Twenty-four male Sprague-Dawley rats were randomly divided into 4 groups (6 cases in each group):Normal IOP with local treatment (NIL) group,high IOP with local treatment (HIL) group,HILwith melatonin treatment (HIL-M) group,HIL with Neu-P11 treatment (HIL-N) group.10 μL normal saline was instilled in NIL group and HIL group,while 10 μL 100 μmol · L-1 Mel/Neu-P11 treated in HIL-M group and HIL-N group.After 2 hours of rest,rats were placed in the Trendelenburg position duration 45 minutes.And then,IOP was measured every hour for 6 hours,and repeated it for a week.The excessive sodium pentobarbital was injected to SD rats at the end of the experiment.The rat eyeballs were took out to perform HE and immunohistochemical staining to detect retina GFAP protein expression.Results After a week,IOP in HIL group was (41.26 ± 1.73) mmHg (1 kPa =7.5 mmHg),NIL group was (13.61 ± 0.55) mmHg,which mean the Trendelenburg could induce high IOP in SD rats.Compared with the NIL group,the retinal becoming thick,the level of organization was not clear and the expression of GFAP protein was quite high in HIL group.At the same time,the GFAP protein expression and IOP were significantly weakened in HIL-M group and HIL-N group compared with HIL group.Conclusion Neu-P1 1 can reduce IOP,inhibit the activation of gliocyte,and decrease the expression of GFAP to protect the retina.