ObjectiveTo understand the uncorrected visual acuity, spherical equivalent and hyperopia reserve of 6‒8-year-old primary school students in Jing’an District of Shanghai, and to provide a scientific basis for further myopia prevention and control. MethodsA total of 619 children aged between 6‒8 years old from three primary schools in Jing’an District were selected by cluster sampling method for uncorrected eye visual acuity examination and diopter examination after cycloplegia (mydriasis). ResultsThe mean uncorrected visual acuity of the619 students aged 6‒8 years old was (4.9±0.2), and the mean spherical equivalent was (0.84±1.11) D. The difference in uncorrected visual acuity was not statistically significant as the age increased (F=0.057, P=0.812), but the spherical equivalent decreased with the increase of age, showing a statistically significant difference (F=26.533, P<0.001). There was no statistically significant difference in uncorrected visual acuity(t=-1.614, P=0.107) and spherical equivalent (t=-1.675, P=0.094) between students of different genders. Finally, among the 619 students, 59.80% of them had abnormal uncorrected visual acuity, 34.90% had insufficient hyperopia reserve, and only 5.30% had sufficient hyperopia reserve. Besides, the proportion of abnormal uncorrected visual acuity in 7-year-old students was 67.50%, higher than that of students with other ages, and the difference was statistically significant (χ²_trend=29.729, P<0.001). While the difference in abnormal uncorrected visual acuity between students of different genders was not statistically significant (χ²=0.068, P=0.967). ConclusionThe deficiency of hyperopia reserve in 6‒8-year-old students in Jing’an District of Shanghai is serious. Attention should be paid to the visual acuity of school-aged children in lower grades, and intervention measures should be actively carried out to slow down the progression of myopia.

Objective:To evaluate the short-term efficacy and safety of 3D printing patient-matched artificial vertebral body in clinical research and application.Methods:A total of 12 patients with spinal tumors were enrolled 7 males (58.33%) and 5 females (41.67%), aged from 18 to 65 years old in The First Affiliated Hospital of Air Force military Medical University (hereinafter referred to as Xijing Hospital) and Peking University people's Hospital from September 2021 to July 2022. The spinal vertebra defect were restored by using 3D printing patient-matched artificial vertebral body after tumor resection. All patients who accepted TES and 3D printing patient-matched artificial vertebral body implantation were included according to the inclusion and exclusion criteria. The bone interface fusion was evaluated by the imaging fusion criteria of Brantigan and Steffee at 3 and 6 months after operation, the curative effect was evaluated by comparing Japanese Orthopaedic Association (JOA) score at 3 and 6 months after operation, visual analogue scale (VAS) 3 months after operation and intervertebral height at 3 and 6 months after operation with those before operation, and the safety was evaluated by adverse event recording.Results:All 12 patients completed the operation successfully, and the operation sites were thoracic vertebrae in 6 cases (50%), thoracolumbar in 3 cases (25%) and lumbar vertebrae in 3 cases (25%). All patients were followed up. The mean follow-up time was 23.92±3.23 months (range, 19-29 months). No tumor recurrence or metastasis was observed during this period. All patients were followed up at 15 days, 3 months and 6 months after operation. During the 6-month follow-up, X ray results showed that interface of bone and the vertebral body were fused in all of the 12 patients, and the effective rate of fusion was 100%. The 95% confidence interval is calculated to be (75.6%-100%). Six months after operation, the improvement rate of JOA score was excellent in 10 cases, good in 1 case, poor in 1 case, and the excellent and good rate was 91.66%. The preoperative VAS score was 4.08 ±2.47, and during the 3-month follow-up, the VAS score was improved to 1.83 ±1.59. Compared with the preoperative VAS score, the difference was statistically significant ( t=2.635, P=0.023). The intervertebral height before operation, 15 days after operation, 3 months after operation and 6 months after operation were 32.75 (25.94, 68.20), 41.09 (30.55, 70.20), 40.70 (30.23, 67.83) and 40.74 (30.23, 67.08), respectively, and there was no statistically significant difference (χ 2=0.768, P=0.857). No implant-related adverse events occurred after operation. Conclusion:The 3D printing patient-matched artificial vertebral body used in this study has satisfactory short-term efficacy and safety in the reconstruction of spinal stability after spinal tumor resection.

ObjectiveThis study aimed to evaluate the clinical efficacy of Ruyi Zhenbaowan（RYZBW）in the treatment of initial and early knee osteoarthritis （KOA） through a prospective multicenter，randomized，double-blind，and placebo-parallel controlled trial. MethodFrom October 13^th， 2021 to December 25^th， 2021， 240 KOA subjects meeting the acceptance criteria were enrolled in 15 sub-centers including Wangjing Hospital， Chinese Academy of Chinese Medical Sciences， and they were randomly divided into observation group and control group， with 120 cases in each group. The intervention measures for the observation group were RYZBW + health education， and the intervention measures for the control group were RYZBW placebo + health education. The intervention period in both groups was four weeks， and they were followed up for four weeks after the intervention. The primary outcome measure was the total score of Western Ontario and McMaster University Osteoarthritis Index score （WOMAC score）， and the secondary outcome measures were the response rate of visual scale （VAS） pain score， WOMAC sub item scores （joint pain， joint stiffness， and joint function）， quality of life （SF-12） score， and traditional Chinese medicine （TCM） syndrome score. Result（1） Efficacy evaluation. The marginal model results showed that the observation group was better than the control group in improving the WOMAC total score and WOMAC pain score in the treatment of KOA with RYZBW， and the difference was statistically significant （P<0.05）. There was no significant difference between the two groups in improving VAS score response rate， WOMAC function score， WOMAC stiffness score， SF12-PCS （quality of life-physical health） score， SF12-MCS （quality of life-mental health） score， and TCM syndrome score. （2） Subgroup analysis. ① In terms of VAS score response rate， the response rate of the observation group was higher than that of the control group for subjects with baseline VAS score of （4， 5］， and the difference was statistically significant （P<0.05）. ② In terms of TCM syndrome score， for subjects aged ［56， 60］ and ［61， 65］， the decrease in total TCM syndrome score in the observation group was better than that in the control group， and the difference was statistically significant （P<0.05）. ConclusionTibetan medicine RYZBW has good clinical efficacy in improving WOMAC total score， VAS score response rate， WOMAC pain score， WOMAC function score， and TCM syndrome score for patients with initial and early KOA， which can fill the lack of Tibetan medicine RYZBW in the treatment of KOA and make a demonstration study for the inheritance and development of ethnic medicine.

Objective:To explore the genetic etiology of a Chinese pedigree affected with Branchio-oculo-facial syndrome (BOFS) and summarize the prenatal phenotype of BOFS patients.Methods:A pedigree with BOFS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in December 2021 was selected as the study subject. Clinical data of the pedigree was collected. The fetus was subjected to routine prenatal ultrasound scan. Trio-whole exome sequencing (trio-WES) was carried out for the fetus and its parents, and candidate variant was verified by Sanger sequencing. Relevant literature was searched from the database to summarize the prenatal phenotype of BOFS patients. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Ultrasound exam suggested the fetus had cleft lip and palate. Its father had presented with high palatal arch, prematurely grayed hair, occult cleft lip, congenital preauricular fistula, red-green color blindness and unilateral renal agenesis. Its grandfather also had high palatal arch, prematurely gray hair, protruding ears, congenital preauricular fistula and hearing disorders. Trio-WES revealed that the fetus and its father had both harbored a heterozygous c. 890-1G>A variant of the TFAP2A gene. The same variant was not found in its mother. Sanger sequencing confirmed that its grandfather had also harbored the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PVS1+ PM2_Supporting). Combined with 36 similar cases retrieved from the literature, the prenatal phenotypes of BOFS patients had included growth restriction (25/37), renal abnormalities (10/37), cleft lip and palate (5/37) and oligohydramnios (5/37). Conclusion:The c. 890-1G>A variant of the TFAP2A gene probably underlay the pathogenesis of BOFS in this pedigree. Discovery of the novel variant has enriched the mutational spectrum of the TFAP2A gene. The common prenatal phenotypes of BOFS have included growth restriction, renal abnormalities, cleft lip and palate and oligohydramnios. Delineation of the intrauterine phenotype of BOFS may facilitate its prenatal diagnosis, clinical diagnosis, treatment and genetic counseling.

Objective:To investigate the long-term therapeutic effects and safety of renal denervation (RDN) on hypertensive patients with different cardiovascular risks, as well as its impact on adverse events, cardiovascular death and all-cause mortality.Methods:This was a single-center, single-arm, real-world retrospective study. Patients with refractory hypertension who underwent RDN at Tianjin First Central Hospital from July 6, 2011 to December 23, 2015 were enrolled and divided into either a high or intermediate-low risk group based on baseline cardiovascular risk. The treatment responsiveness of hypertensive patients with different cardiovascular stratification to RDN was assessed by comparing the results of office blood pressure, home blood pressure, and 24-h ambulatory blood pressure monitoring at 1, 5, and 11 years after RDN. Long-term safety of RDN was assessed by creatinine, and estimated glomerular filtration rate (eGFR) at 1 and 11 years after RDN. In addition, the total defined daily dose (DDD) of antihypertensive medications and the incidence of long-term adverse events, cardiovascular deaths, and all-cause deaths after RDN were followed up 11 years after RDN in person or by telephone.Results:A total of 62 patients with refractory hypertension, aged (50.2±15.0) years, of whom 35 (56.5%) were male, were included. There were 35 cases in high-risk group and 27 cases in low and medium risk group. The decrease in clinic systolic blood pressure (high risk vs. low-medium risk: (-38.0±15.1) mmHg vs. (-25.0±16.6) mmHg(1 mmHg=0.133kPa), P=0.002), home self-measured systolic blood pressure ((-28.4±12.7) mmHg vs. (-19.7±13.1) mmHg, P=0.011) and clinic systolic blood pressure 11 years after RDN ((-43.0±18.4) mmHg vs. (-27.8±17.9) mmHg, P=0.003) in the high-risk group was significantly higher than that in the low-medium risk group. The differences in heart rate and the decrease in total DDD number of antihypertensive drugs between the two groups were not statistically significant (all P>0.05). Creatinine and eGFR levels in the two groups at 1 and 11 years after RDN were not statistically significant when compared with the baseline values (all P>0.05). The cumulative cardiovascular mortality rate was 1.6% (1/62) and 8.1% (5/62), and the cumulative all-cause mortality rate was 3.2% (2/62) and 11.3% (7/62) at 5 and 11 years after RDN, respectively. The differences in the incidence rate of adverse events, cardiovascular mortality, and all-cause mortality rate between the two groups were not statistically significant (all P>0.05). Conclusions:RDN has long-term antihypertensive effect and good safety. Hypertensive patients who belong to the high-risk stratification of cardiovascular risk may respond better to RDN treatment.

Objective:To investigate the coverage of qualified iodized salt in catering service units where residents ate out in Shanxi Province, so as to provide a basis for taking targeted preventive measures timely and adjusting of intervention strategies scientifically, and to consolidate the achievements of eliminating iodine deficiency disorders (IDD) continuously.Methods:One prefecture level city from each of the five directions of east, west, south, north and middle in Shanxi Province in 2021 was selected. One mountainous county and one plain county were selected in each city. Each of the counties was divided into five sampled regions along five different geographic directions: east, west, south, north and middle. From each region, one town/street was selected randomly and then two canteens of enterprises and institutions (canteens), five medium-sized restaurants and five small restaurants were selected from each town/street. We investigated the basic information of catering service units, collected salt samples and then detected the iodine content of these salt samples. In addition, salt iodine testing data of county residents corresponding to catering service units in the 2021 iodine deficiency disorders monitoring were collected from the Shanxi Institute of Endemic Disease Prevention and Treatment, and compared with the survey results of catering service units.Results:A total of 660 salt samples were detected, the median value of salt iodine was 27.65 mg/kg, the coverage rate of iodized salt was 99.39%(656/660), and the coverage rate of qualified iodized salt was 90.76% (599/660). The median value of salt iodine was 26.70, 28.00 and 27.60 mg/kg in canteens, medium-sized restaurants and small restaurants, respectively, and the coverage rate of qualified iodized salt was 95.54% (107/112), 90.42% (236/261), and 89.20% (256/287), respectively. There was no significant difference in the coverage rate of qualified iodized salt among different types of catering service units (χ 2 = 3.92, P = 0.141). The median value of salt iodine was 28.00 and 27.20 mg/kg in mountainous counties and plain counties, respectively, and the coverage rate of qualified iodized salt was 88.67% (266/300) and 92.50% (333/360), respectively. There was no significant difference in the coverage rate of qualified iodized salt among the counties of different geographical types (χ 2 = 2.87, P = 0.090). The median value of salt iodine in catering service units and households was 27.65 and 23.50 mg/kg, respectively, and the coverage rate of qualified iodized salt was 90.76% and 95.91%, respectively. There was a statistically significant difference in the coverage rate of qualified iodized salt between catering service units and households (χ 2 = 31.19, P < 0.001). Conclusions:The coverage rate of qualified iodized salt in catering service units in Shanxi Province generally meets the national elimination standard (> 90%), but there are still some counties that do not meet the standard. The coverage rate of qualified iodized salt in small and medium-sized restaurants is also not optimistic. It is recommended to strengthen monitoring and supervision of edible salt in catering service units in the future.

Objective:To investigate the current situation of water-borne high iodine hazards in Shanxi Province and the implementation of prevention and control measures, providing a scientific basis for prevention and control of the high iodine hazards in the future.Methods:In 2020, a survey was conducted on iodine content of drinking water and water improvement situation in all high iodine administrative villages in 12 water-borne high iodine counties of 4 cities in Shanxi Province. In each monitoring county, five administrative villages were selected as monitoring villages using a systematic sampling method, sorted by the iodine content of the water in the administrative villages. Forty non-boarding students aged 8 - 10 from one primary school and 20 pregnant women were selected from each monitoring village. Household edible salt samples and one random urine sample were collected for salt iodine and urinary iodine content test. B-ultrasound method was used for thyroid examination in children.Results:A total of 297 high iodine administrative villages were surveyed on the drinking water situation of residents, including 268 villages with improved water and 29 villages without improved water, with a water improvement rate of 90.24%. The range of water iodine was 0.33 - 803.75 μg/L, and there were 159 villages with water iodine content > 100 μg/L. A total of 1 926 samples of household edible salt were tested, and the rate of non iodized salt was 62.20% (1 198/1 926); 1 704 urine samples from children and 222 urine samples from pregnant women were tested, with median urinary iodine contents of 426.2 and 318.9 μg/L, respectively. The 1 690 cases of thyroid gland in children were examined, with a goiter rate of 3.91% (66/1 690) and a nodule detection rate of 13.67% (231/1 690).Conclusions:Children's iodine nutrition in water-borne high iodine areas of Shanxi Province is at an iodine excess level, while pregnant women's iodine nutrition is at an iodine excess level. Efforts should be made to increase the popularization of non iodized salt and improve water quality to reduce iodine in areas with high iodine levels, in order to control the harm of high iodine in water sources as soon as possible.

Objective:To summarize initial experience of applying nanopore third-generation sequencing detection method (nanopore sequencing) for genetic diagnosis of non-classical 21 hydroxylase deficiency (NC 21-OHD), and to explore its performance and application prospects.Methods:Clinical data of the two NC 21-OHD patients, who were hospitalized at the First Affiliated Hospital of Zhengzhou University in May 2019, were collected. Peripheral venous blood was collected and genome DNA extracted. Genetic variants was detected by nanopore sequencing and underwent bioinformatic analysis. Pathogenetic mutations in CYP21A2 gene were validated with PCR-sanger sequencing in the two patients and their parents.Results:The average reads length and sequence depth in the patient one was 12, 792 bp and 27.19×. The average reads length and sequence depth in the patient two was 13, 123 bp and 21.34×. Compound variants of c.293-13C>G/c.844G>T (p.Val282Leu) and c.332_339delGAGACTAC (p.Gly111Valfs)/c.844G>T (p.Val282Leu) were detected in these two patients, which were consistent with clinical phenotype of NC 21-OHD. Further analysis showed that c.293-13C>G mutation was inherited from her father and c.844G>T (p.Val282Leu) mutation was inherited from her mother for the patient one. The c.844G>T (p.Val282Leu) mutation was inherited from her father and c.332_339delGAGACTAC (p.Gly111Valfs) mutation from her mother.Conclusions:The heterozygous mutations in CYP21A2 gene are the cause of NC 21-OHD in these two patients. Nanopore sequencing technique is a reliable new detection method for patients with NC 21-OHD.

Aquaporins (AQPs) are water channel proteins that facilitate the transport of water molecules across cell membranes. To date, seven AQPs have been found to be expressed in mammal kidneys. The cellular localization and regulation of the transport properties of AQPs in the kidney have been widely investigated. Autophagy is known as a highly conserved lysosomal pathway, which degrades cytoplasmic components. Through basal autophagy, kidney cells maintain their functions and structure. As a part of the adaptive responses of the kidney, autophagy may be altered in response to stress conditions. Recent studies revealed that autophagic degradation of AQP2 in the kidney collecting ducts leads to impaired urine concentration in animal models with polyuria. Therefore, the modulation of autophagy could be a therapeutic approach to treat water balance disorders. However, as autophagy is either protective or deleterious, it is crucial to establish an optimal condition and therapeutic window where autophagy induction or inhibition could yield beneficial effects. Further studies are needed to understand both the regulation of autophagy and the interaction between AQPs and autophagy in the kidneys in renal diseases, including nephrogenic diabetes insipidus.

Allergic rhinitis(AR)is a typeⅠallergy of the nasal mucosa mediated by IgE.Allergen specific immunotherapy(AIT)can not only control nasal symptoms effectively and long term,but also change the natural course of disease.Due to the poor re-sponse of some patients to allergen specific immunotherapy and the long course of treatment,it is critical to identify biological indica-tors that can predict and evaluate the efficacy.This review reviews the progress in the study of biomarkers for the prediction and evalua-tion of the efficacy of sublingual immunotherapy(SLIT)for AR.The changes of various immune cells,immunoglobulin and cytokines are related to the efficacy of SLIT and are considered as candidate biomarkers,but their effectiveness and relevance remain to be fur-ther verified.