Diabetic retinopathy（DR）， as one of the most common and serious microvascular complications of diabetes mellitus， seriously threatens human health， and belongs to "Xiaoke eye diseases" in traditional Chinese medicine（TCM）， which has been richly experienced by medical practitioners through the ages， but is mostly recorded in a piecemeal manner and has not been systematically researched. This disease is featured by long course and repeated attack， and is refractory， which belongs to the research category of "persistent illness entering collaterals". Systematic establishment of TCM collateral disease theory for guiding prevention and treatment of DR has important clinical value. On the basis of close correlation between tertiary collaterals at the terminal of collaterals and capillaries and microcirculation， the concept of "tertiary collaterals-microvascular" is proposed. It is pointed out that DR falls within the scope of "tertiary collaterals-microvascular" diseases， and presents four types of micro-pathological characteristics， including stasis， insufficiency， growth and bleeding of tertiary collaterals. It is concluded that "deficiency of both Qi and Yin" is the basic pathogenesis of DR， and "blood stasis and collateral obstruction" is the important pathogenesis and key factor. Thus， the treatment method of "dispersing blood stasis， dredging collateral， tonifying Qi and Yin， stopping hemorrhage and improving eyesight" is determined， and the formula of Tongluo Mingmu capsules is developed. The article tightly focuses on the pathological changes such as stasis， growth， insufficiency and bleeding of collaterals， addresses both symptoms and root causes， and plays a synergistic role of both dispersing stasis and stopping bleeding. In this way， it can realize the purpose of tonifying Qi and Yin to replenish the essence， dispersing stasis and dredging collaterals to meet the requirement， as well as stopping hemorrhage and improving eyesight to deal with changes. Fundamental researches demonstrate that Tongluo Mingmu capsules has synergy effects of protecting both retinal capillaries and retinal cells. Phase-Ⅲ clinical trial of new drug has proven definite clinical efficacy and good safety， which provides a new drug choice for enhancing clinical effect of DR， and further supports the scientific value of Luobing theory in preventing and treating DR and other clinically significant diseases.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

Objective : To investigate the epidemiological characteristics of severe fever with thrombocytopenia syndrome (SFTS) in Dongyang City, Zhejiang Province from 2017 to 2022, so as to provide insights into SFTS prevention and control. Methods: Data pertaining to patients with SFTS in Dongyang City from 2017 to 2022 were collected from Notifiable Infectious Disease Reporting System of Chinese Disease Prevention and Control Information System. The epidemiological and clinical characteristics of patients with SFTS were descriptively analyzed, and the trends in incidence of SFTS was evaluated using annual percent change (APC). Results: A total of 32 SFTS cases were reported in Dongyang City from 2017 to 2022, with mean annual incidence of 0.63/105, and 8 cases died, with a fatality rate of 25.00%. The incidence of SFTS appeared a tendency towards a rise from 2017 to 2022 (APC=40.697%, P<0.05). The male to female ratio of SFTS cases was 0.78∶1, and farmer was the predominant occupation (31 cases, 96.88%). SFTS predominantly occurred among individuals at ages of 51 to 69 years (20 cases, 62.50%), and the incidence peaked during the period between March and May and between July and August (28 cases, 87.50%). SFTS cases were reported in 11 out of the 18 townships (streets) in Dongyang City, with the highest number found in Zuocun Township (8 cases, 28.13%), and had the lowest platelet count of (41.46±5.19)×109 platelets/L, with the lowest count of (3.00 to 67.00) ×109 platelets/L. All the SFTS cases had a history of mountain forest and farmland activities 2 weeks prior to onset of the disease, and 5 cases (15.63%) had a history of tick bites. Conclusions The incidence of SFTS appeared a tendency towards a rise in Dongyang City from 2017 to 2022, and SFTS was highly prevalent in spring and summer, with high incidence among farmers. Intensified health education of SFTS is recommended among residents in high-incidence areas.

Objective To observe the daily bladder and bowel preparation of patients with prostate cancer by cone-beam computed tomography (CBCT), and analyze its impact on the precise implementation of radiotherapy for prostate cancer and side effects. Methods We retrospectively analyzed 38 patients with prostate cancer who underwent volumetric modulated arc therapy. The number of radiation fractions for each patient ranged from 25 to 35. A CBCT scan was performed before each daily radiation therapy, and the number of scans for each patient ranged from 25 to 40. Setup errors were adjusted to ensure that the tumor was targeted and the rectum wall was not in the high-dose target area of the prostate. There were 93 instances where treatment could not be successfully implemented and re-preparation and re-scanning were required. We calculated the success rate of treatment and setup errors, compared radiotherapist-adjusted error values under different bladder and bowel preparation conditions, and recorded radiotherapy-related side effects. Results The success rate of treatment in the 38 patients was (92.14 ± 5.25)%. Among the 93 instances of seriously inadequate preparation, 48.4% were due to insufficient bladder filling, and 30.1% were due to intestinal bloating. Radiotherapy side effects were negatively correlated with the success rate of treatment (r = −0.393, P = 0.015). When bladder filling was sufficient, there were no significant differences in radiotherapist-adjusted error values in the left-right (LR), superior-inferior (SI), and anterior-posterior (AP) directions between adequate and inadequate bowel preparation (P > 0.05). When the bladder was moderately or insufficiently filled, there were significant differences in radiotherapist-adjusted error values in the LR, SI, and AP directions between adequate and inadequate bowel preparation (P < 0.05). Conclusion Insufficient bladder filling and intestinal bloating are the main factors influencing the successful implementation of radiotherapy for prostate cancer. When the bladder is sufficiently filled, bowel preparation does not affect prostate position change.

Objective To investigate the efficacy of low-dose inhaled nitric oxide (iNO) in the treatment of severe hypoxemia after Sun’s operation. Methods The clinical data of patients undergoing Sun’s operation for acute Type A aortic dissection in our hospital from January 2020 to June 2022 were retrospectively analyzed. Patients who received conventional treatment before November 2021 were enrolled as a control group. After November 2021, iNO was used in our hospital, and the patients who received iNO as an iNO group. The preoperative clinical baseline data, perioperative clinical data and oxygenation index were compared between the two groups. Results A total of 54 patients were included in the control group, including 45 males and 9 females, with an average age of 53.0±10.9 years. A total of 27 patients were included in the iNO group, including 21 males and 6 females, with an average age of 52.0±10.6 years. The preoperative body mass index of the two groups was greater than 25 kg/m2, white blood cell count, C-reactive protein were significantly higher than normal level, but there was no statistical difference between the groups (P＞0.05). There were no statistical differences in intraoperative data between the two groups (P＞0.05). The iNO group had significantly shorter duration of mechanical ventilation, postoperative ICU stay, and postoperative hospital stay than the control group (P<0.001). After 12 h of iNO treatment, hypoxic condition improved obviously, oxygenation indices in 12 h, 24 h, 36 h,48 h, 60 h and 72 h in the iNO group were significantly higher than those in the control group (P<0.05). Conclusion The treatment of severe hypoxemia after Sun’s surgery with low-dose of iNO is safe and effective, can significantly improve oxygenation function, and has significant advantages in shortening ventilator use time, postoperative ICU stay and postoperative hospital stay, but it is not significant in changing postoperative mortality.

PD is a neurodegenerative disease characterized by degenerative death of dopaminergic neurons in the substantia nigra,exhibiting a range of motor and non-motor symptoms with serious effects on quality of life.circRNA is a covalently closed-loop non-coding RNA that plays a major role in PD progression.This article reviews the involvement of circRNA in oxidative stress,regulation of transcription,neuroinflammation,autophagy,and α-synuclein.

Pediatric calyceal diverticulum (CD) is a relatively rare entity. Fewer cases were reported in China treated by retroperitoneal laparoscoopic surgery in children. In this paper, 2 cases of children with CD admitted to our hospital were reported. CT urography showed cystic low-density mass without obvious enhancement, and delayed contrast agent was found to enter the lesion. Both cases underwent cystoscopy + retroperitoneoscopy + diverticular neck suture. They were followed up for 15 months and 9 months after the surgery, respectively, with favorable outcomes and no recurrence of CD.

Aim To investigate whether SIRT6 overexpression inhibits angiotensin Ⅱ(Ang Ⅱ)-induced cardio-myocyte apoptosis by activating adenosine 5'-monophosphate-activated protein kinase/nuclear factor erythroid 2-related factor 2/heme oxygenase-1(AMPK/Nrf2/HO-1)signaling pathway.Methods The experiment was divided into 4 groups:control group,AngⅡ group,Ang Ⅱ+SIRT6 group,Ang Ⅱ+empty vector(EV)group.The mRNA level of SIRT6 was detected by RT-PCR.The cell activity was measured by MTT assay.The cell apoptosis was analyzed by flow cy-tometry.SIRT6,cardiomyocyte apoptosis related proteins(Bax,cleaved Caspase-3,Bcl-2),DNA damage related pro-teins(γ-H2AX,p-ATM),AMPK/Nrf2/HO-1 signaling pathway related proteins(p-AMPK,Nrf2,HO-1)were measured by Western blot.The reactive oxygen species(ROS)content was determined by DCFH-DA staining.The changes of the above indexes among the groups were observed.Results Compared with control group,the mRNA and protein ex-pression levels of SIRT6 and cell activity were significantly decreased in Ang Ⅱ group.Apoptosis rate,the expressions of Bax,cleaved Caspase-3 were increased,and the expression of Bcl-2 was decreased.The expressions of γ-H2AX and p-ATM were increased,and the expressions of p-AMPK,Nrf2,HO-1 were decreased.The activity of ROS was increased(P＜0.01).Compared with Ang Ⅱ+EV group,the expression of SIRT6 and cell activity were significantly increased in Ang Ⅱ+SIRT6 group.Apoptosis rate,the expressions of Bax and cleaved Caspase-3 were decreased,and the expression of Bcl-2 was increased.The expressions of γ-H2AX and p-ATM were decreased,the expressions of p-AMPK,Nrf2,HO-1 were increased.The activity of ROS was decreased(P＜0.01).Conclusion SIRT6 overexpression inhibits Ang Ⅱ-induced cardiomyocyte apoptosis through activation of AMPK/Nrf2/HO-1 signaling pathway.

Objective:To compare the efficacy and safety of biologics versus methotrexate in the treatment of severe pediatric plaque psoriasis.Methods:A retrospective matched case-control study was carried out. Twenty children with severe plaque psoriasis from Beijing Children′s Hospital, Capital Medical University from June 2016 to November 2021 were included in this study, and the patients treated with biologics (adalimumab or secukinumab) were matched with those treated with methotrexate at a ratio of 1∶1 according to the psoriasis area and severity index (PASI) score and age. PASI, physician′s global assessment (PGA) , and body surface area (BSA) scores were assessed at weeks 4, 8 and 12 after the start of treatment, and adverse drug reactions were recorded. Statistical analysis was mainly carried out by using Mann-Whitney U test, Fisher′s exact test and generalized estimating equations. Results:At weeks 4 and 8, the proportions of patients achieving PASI75 and PASI90 were significantly higher in the biologics group (PASI75: 7/10, 10/10, PASI90: 5/10, 9/10, respectively) than in the methotrexate group (PASI75: 1/10, 5/10, PASI90: 0, 1/10, respectively; all P < 0.05) , while there was no significant difference between the biologics group and methotrexate group at week 12 (PASI75: 10/10 vs. 8/10, PASI90: 9/10 vs. 4/10, both P > 0.05) . There were no significant differences in the PASI, BSA or PGA scores between the two groups at baseline (all P > 0.05) , while the biologics group showed significantly decreased PASI and BSA scores at weeks 4, 8 and 12, and significantly decreased PGA score at week 8 compared with the methotrexate group (PASI: Z = 2.50, 3.56, 2.63, respectively; BSA: Z = 2.87, 3.57, 2.40, respectively; PGA: Z = 2.81; all P<0.05) . Analysis of changes over time showed that the PASI, PGA and BSA scores in the biologics group significantly decreased at weeks 4, 8 and 12 compared with those at baseline (all P<0.01) ; the PASI and PGA scores significantly decreased at weeks 8 and 12 compared with the corresponding scores at week 4 (all P<0.05) ; however, there were no significant differences in the PASI, PGA or BSA scores between week 12 and 8 (all P>0.05) . In the methotrexate group, the PASI, PGA and BSA scores at weeks 4, 8 and 12 were all significantly lower than the corresponding scores at the previous adjacent time points (all P<0.05) . There was no significant difference in the incidence of adverse reactions between the two groups ( P = 0.650) , and no serious adverse reactions occurred in either group. The main adverse reaction was infection in the biologics group, while infection and elevation of transaminase levels were common in the methotrexate group. Conclusion:Biologics and methotrexate were both effective and safe for the treatment of severe pediatricplaque psoriasis, and biologics facilitated rapider achievement of PASI75 and PASI90 compared with methotrexate.

Objective:To explore the application value of different methods of segmented latissimus dorsi myocutaneous flap in repairing chest wall defects after local advanced breast cancer surgery.Methods:The clinical data of 64 patients with unilateral locally advanced breast cancer admitted to Shanxi Cancer Hospital from Feb. 2019 to Jan. 2020 were selected. All patients underwent modified radical mastectomy for breast cancer. The patients were divided into two groups according to the random number table method. Antegrade (group A, n=32 cases) and retrograde (group B, n=32 cases) were used to design and cut the segmented latissimus dorsi myocutaneous flap to repair the defects. The range of skin island cut was 14 cm×6 cm-19 cm×7 cm; The donor area of the flap was closed directly. The application effects of the two groups of methods were compared. Results:In group A, one antegrade flap was partially necrotic, while in group B, six retrograde flaps were partially necrotic ( P>0.05). The delayed healing rate of donor site incision in group A was 6.25%, significantly lower than that in group B (25.00%) ( χ2=4.267, P=0.039). All the patients in both groups were followed up for 12 to 24 months, and the appearance and texture of the flaps were satisfactory; Only linear scar was left in the donor area, and the shoulder joint activity was not affected. The mean survival time was 20.8 months. Conclusion:The antegrade latissimus dorsi myocutaneous flap can repair the large area defect of chest wall after LABC, which can ensure the blood supply of the flap to the greatest extent, reduce the closing tension of the donor area, the incidence of postoperative complications, and promote the healing of the incision.