Objective To explore the changes of microvasculature in the macular area before and after the surgery of acute primary angle-closure glaucoma(APACG)complicated by cataract by using optical coherence tomography angiogra-phy(OCTA).Methods In this retrospective study,23 patients(46 eyes)with APACG(one eye in acute attack and the other eye in preclinical stage)complicated by age-related cataract in both eyes admitted to our hospital from May to No-vember 2023 were selected as the research subjects.The 23 eyes in the acute attack were taken as the observation group,and the 23 contralateral eyes in the preclinical stage were taken as the control group.After the intraocular pressure was sta-bilized,eyes in the observation group underwent phacoemulsification with intraocular lens implantation and goniosynechial-ysis;two weeks later,eyes in the control group underwent phacoemulsification with intraocular lens implantation.The pa-rameters of the foveal avascular zone(FAZ),parafoveal and perifoveal retinal vessel density,and foveal choroidal capillary perfusion area were examined by OCTA before and after surgery.The results were analyzed statistically.Results Before the surgery,the uncorrected visual acuity in the observation group was lower than that in the control group,and the in-traocular pressure was higher than that in the control group(both P＜0.01).At1 week,1 month and 3 months after sur-gery,the uncorrected visual acuity was higher and the intraocular pressure was lower than that before surgery in the two groups(all P＜0.05).The FAZ area and perimeter in the observation group were bigger,but the FAZ circularity index was smaller than that in the control group before the surgery(all P＜0.05).At 1 week after the surgery,the FAZ perimeter in the observation group was bigger,and the FAZ circularity index in the observation group was smaller than that in the con-trol group(both P＜0.05).After the surgery,the FAZ area and perimeter of affected eyes in both groups showed a down-ward trend,while the FAZ circularity index showed an upward trend.Compared with the values before surgery,the FAZ area and perimeter decreased,but the FAZ circularity index increased in the two groups 3 months after the surgery(all P＜0.01).The parafoveal and perifoveal retinal vessel densities in the observation group were lower than those in the control group before and at different time points after the surgery(all P＜0.05).The foveal choroidal capillary perfusion area in the observation group was lower than that in the control group before and at different time points after the surgery(all P＜0.01).The foveal choroidal capillary perfusion area in both groups after surgery increased than that before surgery;3 months after the surgery,the foveal choroidal capillary perfusion area was higher than that before the surgery in the obser-vation group(P＜0.01),but there was no significant difference in that before and after surgery in the control group(P＞0.05).Conclusion The FAZ area and perimeter are bigger,the FAZ circularity index is smaller,and retinal vessel den-sity of the macular area and foveal choroidal capillary perfusion area are lower in the acute attack eyes than those of the preclinical eyes with APACG complicated by age-related cataract.Phacoemulsification with intraocular lens implantation and goniosynechialysis is safe and effective in the treatment of acute attack APACG eyes with cataracts.After the surgery,the FAZ area and perimeter will decrease,while the FAZ circularity index and the foveal choroidal capillary perfusion area will increase.OCTA provides a reference for a more objective evaluation of the changes in microvasculature in the macular area of APACG patients before and after surgery.

Objective:To identify two pathogenic gene mutations in two families with Alstr?m syndrome (ALMS).Methods:A retrospective clinical study. Two patients and five family members from two Han families of ALMS diagnosed at Henan Eye Hospital from August 2020 to December 2021 were enrolled in this study. All participants underwent comprehensive ophthalmic examinations including best corrected visual acuity (BCVA), color test, slit-lamp, fundus biomicroscopy with slit lamp, fundus color photography, optical coherence tomography (OCT) and full-field electroretinography (ff-ERG) after the detailed history of the patient was taken. Five millilitres peripheral venous blood of each subject was collected, and the whole genome DNA was extracted. The pathogenic genes and mutation sites were identified using whole exome sequencing and the identified mutations were verified by Sanger sequencing. Mutation sites were analyzed via bioinformatics softwares.Results:Family one included one victim and two members and family two included one victim and three members. Proband in the first family was a four-year old boy whose chief complaint was poor vision along with photophobia since born, while proband in the second family was a 12-year old girl whose chief complaint was the same. The boy proband could not distinguish color, and both the anterior segment and fundus were normal. Ellipsoid zone of the boy was unclear in both eyes in OCT, and though rod system function decreased mildly-moderately in both eyes, the cone system function decreased severely in ff-ERG. The girl could not distinguish color as well, and the anterior segment was normal, though obvious pigmentary change could be seen in both retinas. The integrity of outer retinal bands was unclear in both eyes in OCT, and both cone and rod systems function decreased severely in both eyes in ff-ERG. Gene tests and bioinformatics analyze showed c.468dupT and c.10819C>T of ALMS1 gene in family one were novel mutations and c.10819C>T in family one and c.10831_10832del in family two were pathogenic mutations. Conclusions:M1, M2 and M3, M4 may be pathogenic gene variants in family 1 and family 2, respectively. The compound heterozygous mutation, c.468dupT and c.10819C>T of ALMS1 gene was a novel mutation.

  Objective  Different from other etiologies of early-onset scoliosis (EOS), congenital early-onset scoliosis (CEOS) is mainly linked to vertebral anomalies, such as formation failures and segmentation failures at the apex segments. So far, there is little research on CEOS patients who have completed traditional growing rods (TGR) treatment, and the initial outcomes of TGR with or without apical control technique (ACT) are different. Therefore, we compared the "final" results of CEOS patients who completed TGR treatment with or without ACT.  Methods  We conducted a retrospective study of CEOS patients who completed TGR treatment from 2007—2020. They either had final fusion or were followed up after reaching skeletal maturity. We split the patients into two groups based on whether they had ACT with TGR or not. The ACT-TGR group had apical vertebrectomy/hemivertebrectomy with short fusion and TGR. The TGR-only group had only TGR. We looked at their demographic features, radiographic measurements, and complications.  Results  This study enrolled 46 CEOS patients, of which 13 patients were in the ACT-TGR group and 33 patients in the TGR group. The ACT-TGR group had a longer distraction interval (1.17 years vs. 0.75 years). The ACT-TGR group had a larger preoperative main curve [87.00(63.50, 98.00)], but the residual curve degrees were comparable between the two groups at the last follow-up (P=0.354). At the last follow-up, the T1-12 and T1-S1 heights were similar between the two groups. The ACT-TGR group had a lower number of implant-related complications per patient (0.77 vs. 1.48). Three patients in the ACT-TGR group underwent final fusion, while 17 patients in the TGR group underwent final fusion (P=0.060).  Conclusions  Both ACT-TGR and traditional TGR coud effectively correct deformity and preserve spinal growth in CEOS patients. ACT-TGR had a better corrective effect on patients with severe deformity and did not have a significant impact on spinal height. For patients with acceptable correction, spontaneous fusion and without implant failure, retaining the implant and continuing observation could be a strategy for graduating from growing rod treatment.

Objective:To investigate the spatial distribution characteristics of Keshan disease in Shandong Province, and to provide evidence for prevention and control of Keshan disease.Methods:The incidence data of Keshan disease in Shandong Province from 1960 to 2018 were collected from Shandong Provincial Institute for Endemic Disease Control and Prevention, and a spatial database was built. Global and local spatial autocorrelation (Moran's I) were analyzed by ArcGIS 10.2 and GeoDa 1.14 softwares, respectively. Local indicators on spatial association (LISA) aggregation graph was drawn. This allowed us to investigate the spatial autocorrelation and cluster range of the distribution of Keshan disease in Shandong Province. Results:A total of 4 172 cases of Keshan disease were reported in Shandong Province with an annual incidence rate of 0 to 51.4/10 000 of the population at the township-level from 1960 to 2018. Global spatial autocorrelation analysis on the incidence of Keshan disease at the township-level showed that global Moran's I values ranged from 0.020 to 0.429 in 1962 - 1964, 1969 - 1985, 1989, 1995, 1998 - 2001 and 2004 - 2016 ( P < 0.05), thus indicating significant spatial autocorrelation overall. LISA analysis further revealed that high-high clusters of Keshan disease existed in 1960, 1962 - 1964, 1969 - 1985, 1989, 1998 - 2000 and 2002 - 2016. These clusters were predominantly distributed in three areas: Zoucheng City, Pingyi County and Sishui County in the southwest of Shandong Province; Wulian County and Ju County in the southeast of Shandong Province; and Qingzhou City, Linqu County and Yishui County in the central and middle-south of Shandong Province. Conclusions:Keshan disease exhibits significant spatial autocorrelation in Shandong Province. High-high clusters are mainly located in certain townships in the southwest, southeast, central and middle-south of Shandong Province.

Objective:To explore the predictors of recovery of normal left ventricular ejection fraction (LVEF) in patients with chronic Keshan disease (CKD) after standard anti-heart failure treatment.Methods:From June 2013 to October 2017, CKD patients were selected as the research subjects in 8 Keshan disease counties (cities) in Shandong Province. Demographic data and clinical indicators related to the recovery of normal LVEF were collected at the initial diagnosis, and the patients were given standard anti-heart failure treatment. Follow-up was carried out until October 2019 or until all-cause death. Patients were divided into recovery group and non-recovery group according to whether LVEF returned to normal (LVEF≥50% was normal) by group design, and multi-factor logistic regression was used to analyze the predictors of recovery of normal LVEF.Results:A total of 98 CKD patients were included in this study, their average age was (47.51 ± 12.84) years old; body mass index (BMI) was (23.18 ± 4.92) kg/m 2; LVEF was (39.54 ± 8.26)%; male accounted for 65.31% (64/98); the New York Heart Association (NYHA) heart function grade Ⅱ and grade Ⅲ accounted for 46.94% (46/98) and 53.06% (52/98), respectively. The median follow-up time was 26 months, the LVEF of 28 patients (28.57%) returned to normal, and the LVEF increased from (43.27 ± 7.85)% of the baseline to (58.74 ± 6.07)%, the difference was statistically significant ( t=8.25, P < 0.01); LVEF did not return to normal in 70 patients (71.43%), and the LVEF increased from (37.84 ± 6.93)% of the baseline to (42.94 ± 7.31)%, the difference was statistically significant ( t=4.24, P < 0.01). The median recovery time of 28 patients with normal LVEF recovery was 14 months, of which 4 patients (14.29%), 6 patients (21.43%) and 15 patients (53.57%) recovered at follow-up of 6, 12 and 18 months, respectively, and 27 patients (96.43%) recovered within 3 years. The results of multivariate logistic regression analysis showed that disease course [odds ratio ( OR)=0.81, 95% confidence interval ( CI): 0.70-0.95, P < 0.05], electrocardiogram QRS wave duration ( OR=0.88, 95% CI: 0.79-0.98, P < 0.05), LVEF ( OR=1.26, 95% CI: 1.13-1.42, P < 0.01), and left ventricular end-diastolic diameter (LVEDD, OR=0.79, 95% CI: 0.66-0.90, P < 0.01) were independent predictors of recovery of normal LVEF. Conclusions:LVEF can return to normal after anti-heart failure treatment in some CKD patients. Patients with shorter disease course, shorter electrocardiogram QRS wave duration, higher baseline LVEF and lower LVEDD are more likely to recover from LVEF.

Objective:To determine the pathogenic gene mutation in a family with incomplete congenital quiescent night blindness (CSNB) of Schubert-Bornschein type.Methods:A retrospective clinical study. In February 2021, one patient and his parents and elder brother from a Han Chinese incomplete CSNB of Schubert-Bornschein type family diagnosed by clinical and genetic examination at Henan Provincial People's Hospital were included in the study. The patient’s medical history, family history were inquired; best corrected visual acuity (BCVA), color vision, fundus color photography, full-field electroretinogram (ERG), and frequency domain optical coherence tomography (OCT) were examined in detail. Five ml of the subject’s peripheral venous blood was collected and the whole genome DNA was extracted. The genomic DNA of the subject was library constructed, and all-exon probes were polymerized for capture. The suspected pathogenic mutation site was verified by Sanger, and the pathogenicity of the gene mutation site was determined by parallel bioinformatics analysis.Results:The BCVA of both eyes of the proband (Ⅱ2) was 0.4; the color vision test could not recognize the red color. Fundus examination showed no obvious abnormalities. The retina thickness in the macular area of both eyes was slightly thinned. ERG examination of the whole field showed that the amplitude of ERG b wave was significantly reduced under the stimulation of binocular dark adaptation 3.0 and showed a negative waveform. The mother of the proband (Ⅰ2) had normal BCVA, color vision, fundus color photography, and frequency domain OCT examination. The full-field ERG examination showed that the amplitude of each eye reaction was slightly reduced, and the amplitude of the dark adaptation shock potential was significantly reduced. Genetic testing showed that the proband (Ⅱ2) had a c.1761dupC hemizygous mutation in exon 14 of the voltage-dependent calcium channel α1F subunit gene ( CACNA1F gene). The results of protein sequence homology analysis showed that the site was highly conserved in multiple species; the results of bioinformatics analysis showed that the CACNA1F gene c.1761dupC (pY588fs) subsequently had a frameshift mutation and became a stop at position 10. Codons appear translational termination in the conserved regions of the protein. According to the standards and guidelines of the American College of Medical Genetics and Genomics, the mutation was judged to be a possible pathogenic variant. The mother of the proband (Ⅰ2) was a carrier of this site mutation. The clinical and genetic test results of the father and elder brother of the proband were not abnormal. Conclusion:CACNA1F gene c.1761dupC is the pathogenic mutation site of the Schubert-Bornschein type incomplete CSNB family.

Objective:To establish a colloidal gold technique assay for the rapid detection of immunoglobulin(Ig)M and IgG antibodies against 2019 novel coronavirus (2019-nCoV) and to evaluate its clinical performance.Methods:A total of 278 patients who were respectively treated at Wuhan Hankou Hospital and the People′s Hospital of Honghu from February 12, 2020 to February 20, 2020 were collected. According to the diagnostic criteria, 89 patients were confirmed with positive 2019-nCoV nucleic acid, and 189 were 2019-nCoV nucleic acid-negative suspected patients. A total of 273 medical examiners from Nanfang Hospital, Southern Medical University from 2015 to 2018 were selected as controls. The serum samples of patients were collected. 2019-nCoV nucleic proteins were obtained from prokaryotic expression vectors. Indirect IgM and IgG colloidal gold techniques were established by using recombinant nuclear protein. 2019-nCoV nucleic acid detection by reverse transcription-polymerase chain reaction (RT-PCR) was used as control. Serum specimens were tested for 2019-nCoV IgM and IgG. The specificity and sensitivity of colloidal gold assay were analyzed.Results:The positive rates of IgM and IgG with the colloidal gold detection in confirmed patients with positive 2019-nCoV nucleic acid were 78.7%(70/89) and 73.0%(65/89), respectively. The positive rates of IgM and IgG in medical examiners were 1.8%(5/273) and 0.7%(2/273), respectively. The sensitivity and specificity of IgM detection reagents were 78.7% and 98.2%, respectively, those of IgG detection reagents were 73.0% and 99.3%, respectively, and those of IgM combined with IgG detection were 87.6% and 98.2%, respectively. For suspected patients with negative 2019-nCoV nucleic acid, the positive rates of IgM and IgG were 59.8%(113/189) and 52.9%(100/189), respectively, and the positive rate of IgM combined with IgG detection was 66.1%(125/189).Conclusion:This reagent of 2019-nCoV antibodies detection (colloidal gold technique) fulfills the requirement for clinical application with high specificity and sensitivity, which can be served as a supplementary detection method for 2019-nCoV nucleic acid detection by RT-PCR.

Objective: To establish a colloidal gold technique assay for the rapid detection of immunoglobulin(Ig) M and IgG antibodies against 2019 novel coronavirus (2019-nCoV) and to evaluate its clinical performance. Methods: A total of 278 patients who were treated at Wuhan Hankou Hospital and the People's Hospital of Honghu from February 12, 2020 to February 20, 2020 were collected. According to the diagnostic criteria, 89 patients were confirmed with 2019-nCoV nucleic acid positive diagnosis, and 189 were 2019-nCoV nucleic acid-negative suspected patients. A total of 273 medical examiners from Nanfang Hospital, Southern Medical University from 2015 to 2018 were selected as controls. The serum samples of patients were collected. 2019-nCoV nucleic proteins were obtained from prokaryotic expression vectors. Indirect IgM and IgG colloidal gold techniques were established by using recombinant N protein. 2019-nCoV nucleic acid detection by reverse transcription-polymerase chain reaction (RT-PCR) was used as control. Serum specimens were tested for 2019-nCoV IgM and IgG. The specificity and sensitivity of colloidal gold assay were analyzed. Results: The sensitivity and specificity of IgM detection reagents were 78.7% and 98.2%, respectively, those of IgG detection reagents were 73.0% and 99.3%, respectively, and those of IgM combined with IgG detection were 87.6% and 98.2%, respectively. For suspected patients with negative 2019-nCoV nucleic acid, the positive rates of IgM and IgG were 59.8% (113/189) and 52.9% (100/189), respectively, and the positive rate of IgM combined with IgG detection was 66.1% (125/189). Conclusion This reagent of 2019-nCoV antibodies detection (colloidal gold technique) fulfills the requirement for clinical application with high specificity and sensitivity, which can be served as a supplementary detection method for 2019-nCoV nucleic acid detection by RT-PCR.

OBJECTIVE: To investigate the effect of bone marrow stromal cell glycosyltransferase B4GALT1 expression on hematopoietic cell proliferation and its upstream regulation mechanism. METHODS: B4GALT1 was overexpressed in human bone marrow stromal cell line HS5, which was then co-cultured with acute myeloid leukemia cell line KG1a. And its effect on hematopoietic cell proliferation was detected by flow cytometry. Dual luciferase reporter assay, real-time PCR and Western blot were used to predict and validate upstream transcription factors that regulate stromal cell B4GALT1 expression. RESULTS: Overexpression of B4GALT1 in HS5 significantly promoted the proliferation of KG1a in the co-culture system. B4GALT1 expression in stromal cells positively correlated with upstream c-Jun expression, which was verified by JNK/c-Jun inhibitors. CONCLUSION The differential expression of glycosyltransferases and their corresponding glycosylation in the hematopoietic microenvironment play an important role.

Objective The echocardiography of patients with chronic Keshan disease (CKD) in the plateau and plain areas was compared,to analyze the specific manifestations of echocardiography in patients with high altitude CKD,to provide a reference for imaging diagnosis.Methods From October 2014 to December 2016,34 patients with CKD were selected in the Tibet Autonomous Region [18 males,16 females,aged (44.5 ± 5.6) years old] as plateau group;45 patients with CKD were selected in Shandong Province [21 males,24 females,age (47.3 ± 6.9) years old] as a plain group.Echocardiography was performed on the observed subjects,and cardiac morphology,hemodynamics and cardiac function were analyzed.Results The left atrial diameter (LAD),left ventricular end diastolic diameter (LVEDD),and left ventricular mass (LVM) of the plateau group were (39.2 ± 4.8),(56.5 ± 6.3) mm and (232.4 ± 40.2) g,respectively,which were lower than those of the plain group [(48.3 ± 5.7),(65.2 ± 7.8) mm,(283.7 ± 38.3) g,t =-7.52,-5.30,-5.74,P ＜ 0.01].The right atrial transverse diameter (RATD),right ventricular transverse diameter (RVTD) and right ventricular lateral wall thickness (RVWT) of the plateau group were (47.6 ± 8.5),(50.4 ± 7.3) and (4.8 ± 1.1) mm,respectively,which were higher than those of the plain group [(42.3 ± 7.2),(42.7 ± 6.8),(3.3 ± 0.7) mm,t =2.99,4.81,7.36,P ＜ 0.01].The early diastolic filling velocity (E),the early diastolic peak velocity of the mitral annular (Em) of the plateau group were lower than those of the plain group,E/Em of the plateau group was higher than that of the plain group (t =-2.64,-2.35,2.07,P ＜ 0.05).The fractional area change (FAC) of right ventricular,tricuspid annular plane systolic excursion (TAPSE) and tricuspid annular systolic velocity (S') of the plateau group [(24.9 ± 2.8)％,(13.2 ± 1.2) mm,(6.8 ± 1.0) cm/s] were lower than those of the plain group [(26.3 ± 3.2)％,(14.5 ± 1.3) rmm,(7.5 ± 1.2) cm/s,t =-2.02,-4.53,-2.74,P ＜ 0.05 or ＜ 0.01].The tricuspid annular diastolic velocity (e') of the plateau group was lower than that of the plain group,and tricuspid annular blood flow early diastolic filling velocity maximum (e)/e'was higher than that of the plain group (t =-2.07,2.09,P ＜ 0.05).The systolic pulmonary artery pressure (SPAP) of the plateau group [(48.5 ± 12.3) mmHg,1 mmHg =0.133 kPa] was higher than that of the plain group [(41.6 ± 13.3) mmHg,t =2.34,P ＜ 0.05].Conclusion Compared with CKD patients in plain area,CKD patients in plateau area have showed more obvious right heart enlargement and right ventricular failure,and combined with higher SPAP.