Objective To analyze the changes in patients with neovascular age-related macular degeneration(nAMD)before and after treatment with faricimab or ranibizumab.Methods A prospective study was conducted on 20 nAMD patients(20 eyes)who received treatment at the Ophthalmology Department of Wuhu Hospital affiliated with East China Normal University.nAMD was diagnosed with fluorescein fundus angiography,indocyanine green angiography,and optical coherence tomography(OCT).The central macular thickness(CMT),choroidal neovascularization(CNV)cross-sectional area(CSA),and CNV blood flow area(CFA)of the patients at baseline and after 4,12,and 24 weeks of anti-vascular endothelial growth factor(VEGF)treatment.The changes in index at different time periods and the differences in results between the two groups were studied.Results There were no statistically significant differences in age,gender,CNV type,OCT,and optical coherence tomography angiography(OCTA)morphology between the two groups of patients at baseline(all P＞0.05).CMT,CSA,and CFA decreased in both groups after treatment(all P＜0.05).CMT showed a gradual decrease in both groups after 4 and 12 weeks of treatment(all P＜0.05).There was no statistically significant difference in CMT between 12 and 24 weeks after treatment in the faricimab group(P=0.096).In the ranibizumab group,CMT increased 24 weeks after treatment,compared with that 12 weeks after treatment(P=0.004).CSA and CFA de-creased in both groups after 12 weeks of treatment(both P＜0.05).There was no statistically significant difference in CSA and CFA between 12 and 24 weeks after treatment in the faricimab group(P=0.085,0.095).In the ranibizumab group,CSA and CFA increased 24 weeks after treatment,compared with those 12 week after treatment(P=0.001,0.000).Inter-group comparisons showed that the CMT of patients in the faricimab group was lower than that in the ranibizumab group af-ter 24 weeks of treatment(P=0.022).There was no statistically significant difference in CSA and CFA at each time period for both groups(all P＞0.05).Conclusion Faricimab and ranibizumab have similar efficacy in the treatment of nAMD patients,but faricimab is superior to ranibizumab in sustained effects.

Objective To analyze the changes in patients with neovascular age-related macular degeneration(nAMD)before and after treatment with faricimab or ranibizumab.Methods A prospective study was conducted on 20 nAMD patients(20 eyes)who received treatment at the Ophthalmology Department of Wuhu Hospital affiliated with East China Normal University.nAMD was diagnosed with fluorescein fundus angiography,indocyanine green angiography,and optical coherence tomography(OCT).The central macular thickness(CMT),choroidal neovascularization(CNV)cross-sectional area(CSA),and CNV blood flow area(CFA)of the patients at baseline and after 4,12,and 24 weeks of anti-vascular endothelial growth factor(VEGF)treatment.The changes in index at different time periods and the differences in results between the two groups were studied.Results There were no statistically significant differences in age,gender,CNV type,OCT,and optical coherence tomography angiography(OCTA)morphology between the two groups of patients at baseline(all P＞0.05).CMT,CSA,and CFA decreased in both groups after treatment(all P＜0.05).CMT showed a gradual decrease in both groups after 4 and 12 weeks of treatment(all P＜0.05).There was no statistically significant difference in CMT between 12 and 24 weeks after treatment in the faricimab group(P=0.096).In the ranibizumab group,CMT increased 24 weeks after treatment,compared with that 12 weeks after treatment(P=0.004).CSA and CFA de-creased in both groups after 12 weeks of treatment(both P＜0.05).There was no statistically significant difference in CSA and CFA between 12 and 24 weeks after treatment in the faricimab group(P=0.085,0.095).In the ranibizumab group,CSA and CFA increased 24 weeks after treatment,compared with those 12 week after treatment(P=0.001,0.000).Inter-group comparisons showed that the CMT of patients in the faricimab group was lower than that in the ranibizumab group af-ter 24 weeks of treatment(P=0.022).There was no statistically significant difference in CSA and CFA at each time period for both groups(all P＞0.05).Conclusion Faricimab and ranibizumab have similar efficacy in the treatment of nAMD patients,but faricimab is superior to ranibizumab in sustained effects.

The surveillance data of new cases of acute myocardial infarction (AMI) from January 1, 2013, to December 31, 2021, in Tengzhou City, Shandong Province, were used to analyze the incidence rate of AMI and its change trend among residents. The age and gender standardized incidence rate was calculated based on the 7th National Population Census 2020. The Cochran-Armitage trend test was used to analyze the trend of onset time and age. From 2013 to 2021, the crude and standardized incidence rate of total AMI in Tengzhou City declined from 130.07/100 000 and 161.12/100 000 to 76.15/100 000 and 72.77/100 000 ( Z=-13.785 and -20.822, both P<0.001). The crude and standardized incidence rates of males were higher than those of females. In 2016, males aged 45-54 years old and females aged 35-64 years old increased by 33.33%, 103.65%, 106.30%, and 95.75% compared to 2015, and the differences were statistically significant ( χ2=6.512, 4.965, 25.115, and 46.004, all P<0.05). The incidence rate of AMI in men aged<35 and 35-44 years old had an upward trend. From 2013 to 2021, the incidence rate of AMI decreased by 55.15% in urban areas and 36.59% in rural areas ( Z=-8.529 and -11.235, both P<0.001).

The surveillance data of new cases of acute myocardial infarction (AMI) from January 1, 2013, to December 31, 2021, in Tengzhou City, Shandong Province, were used to analyze the incidence rate of AMI and its change trend among residents. The age and gender standardized incidence rate was calculated based on the 7th National Population Census 2020. The Cochran-Armitage trend test was used to analyze the trend of onset time and age. From 2013 to 2021, the crude and standardized incidence rate of total AMI in Tengzhou City declined from 130.07/100 000 and 161.12/100 000 to 76.15/100 000 and 72.77/100 000 ( Z=-13.785 and -20.822, both P<0.001). The crude and standardized incidence rates of males were higher than those of females. In 2016, males aged 45-54 years old and females aged 35-64 years old increased by 33.33%, 103.65%, 106.30%, and 95.75% compared to 2015, and the differences were statistically significant ( χ2=6.512, 4.965, 25.115, and 46.004, all P<0.05). The incidence rate of AMI in men aged<35 and 35-44 years old had an upward trend. From 2013 to 2021, the incidence rate of AMI decreased by 55.15% in urban areas and 36.59% in rural areas ( Z=-8.529 and -11.235, both P<0.001).

Objective:To analyze the clinical characteristics of a child with Congenital disorder of glycosylation due to compound heterozygous variants of COG6 gene ( COG6-CDG). Methods:A child who was admitted to Xi′an Children′s Hospital on January 10, 2023 was selected as the study subject. Clinical data were collected. Pathogenic variants were analyzed by whole exome sequencing, and candidate variants were verified by Sanger sequencing, in vitro experiments and bioinformatic analysis. This study was approved by the Medical Ethics Committee of Xi′an Children′s Hospital (No. 20230101). Results:The child, a 1-month-8-day-old male, was admitted for diarrhea and weight loss for one month. He had presented with cholestasis, diarrhea, facial dysmorphism, poor response, bilateral Simian crease, and brain atrophy. After discharge, he had continued to have high fever, feeding difficulty, and deceased finally. Whole exome sequencing results showed that he had harbored compound heterozygous variants of the COG6 gene, namely c. 807delT (p.F269Lfs*37) and c. 1746+ 1G>C (p.Gly565_Met582del). Sanger sequencing verified that the variants were inherited from his father and mother, respectively. In vitro experiments verified that the c. 1746+ 1G>C variant could affect the mRNA splicing and produce a truncated protein, whilst the c. 807delT variant could significantly reduce gene expression at both mRNA and protein levels. Based on the guidelines from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP), the variants were classified as pathogenic (PVS1+ PM3+ PM2_Supporting) and likely pathogenic (PVS1+ PM2_Supporting), respectively. Conclusion:The c. 807delT (p.F269Lfs*37) and c. 1746+ 1G>C (p.Gly565_Met582del) compound heterozygous variants of the COG6 gene probably underlay the pathogenesis of this child. Above finding has enriched the mutational spectrum of COG6-CDG and provided a basis for the genetic counseling for this family.

Objective:To analyze the changing trend of intracerebral hemorrhage (ICH) incidence among residents with different characteristics during 9 years of comprehensive hypertension prevention and control (hypertension prevention and control) in Tengzhou from 2013 to 2021.Methods:From January 1, 2013 to December 31, 2021, the new ICH cases collected by the Center for Disease Control and Prevention in Tengzhou City were analyzed to calculate the incidence of ICH, and the trend of its distribution was analyzed among residents with different ages, sexes, and between urban and rural areas. The registered population information came from Tengzhou Public Security Bureau. Age and sex standardized incidence was calculated based on the 7th National Population Census in 2020. The Cochran-Armitage test was used to analyze the time and age trends of the incidence.Results:The overall ICH crude and standardized incidence in Tengzhou City decreased from 97.30/100 000 to 52.13/100 000 ( Z=-9.93, P<0.001) and 119.30/100 000 to 50.69/100 000 ( Z=-15.40, P<0.001) from 2013 to 2021, and both elevated to form a single peak in 2020, with 22.58% ( χ 2=24.02, P<0.001) and 18.09% ( χ 2=17.08, P<0.001) higher than in 2019, respectively. The trends in male and female incidence over the same period were similar to the overall trends, and the incidence was higher in males than in females in all years. The incidence of ICH increased with age in all years. The difference of increase in male incidence rate in 2020 was statistically significant in three age groups ≥45 years compared with 2019 (36.29%, 23.57% and 16.18%, respectively, χ 2=6.73, 4.65, 4.00, P<0.001). The incidence of ICH decreased by 70.07% and 36.23% ( Z=18.44, 5.22, P<0.001) in urban and rural areas respectively from 2013 to 2021, whereas increased by 34.15% ( χ 2=10.88, P<0.01) and 22.08% ( χ 2=18.63, P<0.001) in 2020 compared with 2019 separately. Conclusions:The incidence of ICH in Tengzhou from 2013 to 2021 showed a significant downward trend, with the decrease in the incidence of ICH in women exceeding that in men. The decrease in the incidence of ICH in urban areas exceeded that in rural areas, and male morbidity seemingly had a younger trend.

OBJECTIVE: To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia. METHODS: Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene. RESULTS: The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported. CONCLUSION The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.
Amino Acid Metabolism, Inborn Errors/genetics* ; Child ; Female ; Heterozygote ; Humans ; Isovaleryl-CoA Dehydrogenase/genetics* ; Male ; Mutation

The fovea avascular area (FAZ) is an area of the retina surrounded by a continuous capillary plexus that does not have any capillary structure of its own. FAZ is an important region for the formation of fine vision function. The changes of its morphology and surrounding capillary density reflect the degree of macular ischemia, and are closely related to retinal vascular diseases such as diabetic retinopathy, retinal vein occlusion, Coats disease, idiopathic macular telangiectasia, and retinopathy of prematurity. Early observation of FAZ region changes in patients with retinal vascular disease by optical coherence tomography angiography (OCTA) can evaluate the severity and prognosis of the disease. However, the measurement error of FAZ-related data is still a problem that cannot be ignored. At present, OCTA devices of various manufacturers have different methods and algorithms for measuring and analyzing FAZ, which makes it impossible to compare the measured data between different devices. It is believed that with the continuous progress of OCTA related technology, more accurate data of FAZ regional changes can be obtained, which will bring more help to clinical work.

Objective:To compare the postoperative functional prognosis of transanal mesorectal excision (taTME) and conventional total mesorectal excision (TME) in rectal cancer.Methods:Totally 49 patients underwent taTME and 478 patients underwent conventional TME at Department of Gastroenterological Surgery, Peking University People′s Hospital from January 2015 to December 2019 were retrospectively collected. Propensity score matching method was used to perform 1 versus 1 matching between the taTME and conventional TME groups, and 36 pairs of patients were successfully matched. After matching, the median age of patients in taTME group and conventional TME group was 60.5 (16.0) years and 60.5 (13.0) years ( M( Q R)), respectively, and the proportion of male patients was 66.7% (24/36) and 55.6% (20/36) , respectively. EORTC QLQ-C30 scale was used to assess quality of life, low anterior resection syndrome (LARS) scale and Wexner constipation score were used to evaluate anal function, international prostate symptom score (IPSS) was used to evaluate urinary function,international index of erectile function (IIEF) -5 and female sexual function index (FSFI) score were used to evaluate male and female sexual function, respectively, and generalized anxiety disorder (GAD-7) and patient health questionnaire (PHQ-9) scale were used to evaluate psych function. The t test, Mann-Whitney U test, χ 2 test, and Fisher exact test were used for comparison between groups, and Wilcoxon rank sum test or McNemar test was used for comparison between paired data. Results:There were no significant differences in surgery time, postoperative hospital stays, conversion rate, morbidity rate, surgery cost, and numbers of lymph node yield between the two groups (all P>0.05). Compared with the conventional TME group, the intraoperative blood loss in the taTME group was significantly higher (100 (100) ml vs. 80 (50) ml, U=424.5, P=0.010), the prophylactic stoma rate was significantly higher (96.9%(31/36) vs. 63.6%(21/36), χ 2=11.218, P<0.01), the total hospitalization cost was significantly lower (74 297.7 (16 746.4) CNY vs. 91 781.3 (26 228.4) CNY, U=413.0, P=0.008). There were no significant differences in anal and urinary function between the two groups (LARS scalescore: Z=-0.513, P=0.608, Wexner constipation score: Z=-0.992, P=0.321, IPSS: Z=-1.807, P=0.071). In terms of psych function, significant difference in GAD-7 scale was seen between the two groups ( Z=-2.311, P=0.021), patients with generalized anxiety disorder accounting for 26.7% (8/30) and 46.9% (15/32), respectively. Conclusions:Compared with conventional TME surgery, taTME has a significantly increased blood loss and prophylactic stoma rate. There are no significant difference in the incidence of postoperative anal, urinary, and sexual dysfunction between taTME and conventinal TME. taTME can alleviate the financial burden and general anxiety disorder to a certain extent.

Objective:To compare the postoperative functional prognosis of transanal mesorectal excision (taTME) and conventional total mesorectal excision (TME) in rectal cancer.Methods:Totally 49 patients underwent taTME and 478 patients underwent conventional TME at Department of Gastroenterological Surgery, Peking University People′s Hospital from January 2015 to December 2019 were retrospectively collected. Propensity score matching method was used to perform 1 versus 1 matching between the taTME and conventional TME groups, and 36 pairs of patients were successfully matched. After matching, the median age of patients in taTME group and conventional TME group was 60.5 (16.0) years and 60.5 (13.0) years ( M( Q R)), respectively, and the proportion of male patients was 66.7% (24/36) and 55.6% (20/36) , respectively. EORTC QLQ-C30 scale was used to assess quality of life, low anterior resection syndrome (LARS) scale and Wexner constipation score were used to evaluate anal function, international prostate symptom score (IPSS) was used to evaluate urinary function,international index of erectile function (IIEF) -5 and female sexual function index (FSFI) score were used to evaluate male and female sexual function, respectively, and generalized anxiety disorder (GAD-7) and patient health questionnaire (PHQ-9) scale were used to evaluate psych function. The t test, Mann-Whitney U test, χ 2 test, and Fisher exact test were used for comparison between groups, and Wilcoxon rank sum test or McNemar test was used for comparison between paired data. Results:There were no significant differences in surgery time, postoperative hospital stays, conversion rate, morbidity rate, surgery cost, and numbers of lymph node yield between the two groups (all P>0.05). Compared with the conventional TME group, the intraoperative blood loss in the taTME group was significantly higher (100 (100) ml vs. 80 (50) ml, U=424.5, P=0.010), the prophylactic stoma rate was significantly higher (96.9%(31/36) vs. 63.6%(21/36), χ 2=11.218, P<0.01), the total hospitalization cost was significantly lower (74 297.7 (16 746.4) CNY vs. 91 781.3 (26 228.4) CNY, U=413.0, P=0.008). There were no significant differences in anal and urinary function between the two groups (LARS scalescore: Z=-0.513, P=0.608, Wexner constipation score: Z=-0.992, P=0.321, IPSS: Z=-1.807, P=0.071). In terms of psych function, significant difference in GAD-7 scale was seen between the two groups ( Z=-2.311, P=0.021), patients with generalized anxiety disorder accounting for 26.7% (8/30) and 46.9% (15/32), respectively. Conclusions:Compared with conventional TME surgery, taTME has a significantly increased blood loss and prophylactic stoma rate. There are no significant difference in the incidence of postoperative anal, urinary, and sexual dysfunction between taTME and conventinal TME. taTME can alleviate the financial burden and general anxiety disorder to a certain extent.