OBJECTIVES: This study aims to explore the association between single nucleotide polymorphisms (SNPs) loci near the haplotype region hg19 chr9:100560865-100660865 of the forkhead box E1 (FOXE1) gene and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P) in western Han Chinese population. METHODS: In the first stage, our study recruited 159 NSCL/P patients and performed targeted region sequencing to screen SNPs loci near the haplotype region of the FOXE1 gene associated with NSCL/P. In the second stage, we selected 21 common SNPs and re-enrolled 1 000 non-syndromic cleft lip only (NSCLO) patients, 1 000 non-syndromic cleft palate only (NSCPO) patients, and 1 000 normal controls to verify the association. PLINK software was used to perform Hardy-Weinberg equilibrium (HWE) test. Association analysis for common variants, gene burden analysis for rare mutations, and function prediction of SNPs with non-synonymous mutations were performed using Mutation Taster and other software programs. RESULTS: In the first stage, 126 variants, including 76 single nucleotide variants and 50 insertion-deletions were identified. All the included SNPs confirmed to HWE, and the results of gene burden analysis and prediction of functional harmfulness for rare variants were not statistically significant. Association analysis showed that rs13292899 of the FOXE1 gene was significantly associated with NSCL/P (P=1.85E-27) and was also correlated with NSCLO (P=6.41E-23) and non-syndromic cleft lip with cleft palate (NSCLP) (P=2.36E-15) subtypes. In the validation phase, rs79268293 (P=0.013, P=0.022), rs10983951 (P=0.009 2, P=0.007 6), rs117227387 (P=0.009 2, P=0.007 6), rs3758250 (P=0.009 2, P=0.007 6), and rs116899397 (P=0.009 2, P=0.007 6) were significantly associated with NSCLO and NSCPO; rs13292899 (P=0.008 5), rs74606599 (P=0.008 3), rs143226042 (P=0.008 3), and rs117236550 (P=0.01) were associated with the occurrence of NSCLO; and rs12343182 (P=0.008 7), rs10119760 (P=0.012), rs10113907 (P=0.012), and rs13299924 (P=0.012) were associated with the occurrence of NSCPO. CONCLUSIONS This study found a new susceptible SNP rs13292899 of the FOXE1 gene that is closely associated with NSCL/P and NSCLO subtype and 13 other SNPs associated with NSCLO or NSCPO.
Female ; Humans ; Male ; China ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Forkhead Transcription Factors/genetics* ; Haplotypes ; Polymorphism, Single Nucleotide ; East Asian People/genetics*

OBJECTIVES: A ventricular assist device (VAD) is an electromechanical device used to assist cardiac blood circulation, which can be employed for the treatment of end-stage heart failure and is most commonly placed in the left ventricle. Despite enhancing perfusion performance, the implantation of left ventricular assist device (LVAD) transforms the local intraventricular flow and thus may increase the risk of thrombogenesis. This study aims to investigate fluid-particle interactions and thromboembolic risk under different LVAD configurations using three-dimensional (3D) reconstruction models, focusing on the effects of outflow tract orientation and blood flow rates. METHODS: A patient-specific end-diastolic 3D reconstruction model was initially constructed in stereo lithography (STL) format using Mimics software based on CT images. Transient numerical simulations were performed to analyze fluid-particle interactions and thromboembolic risks for LVAD with varying outflow tract orientations under 2 flow rates (4 L/min and 5 L/min), using particles of uniform size (2 mm), and a blood flow rate optimization protocol was implemented for this patient. RESULTS: When the LVAD flow rate was 5 L/min, helicity and flow stagnation of the blood flow increased the particle residence time (RT) and the risk of thrombogenesis of the aortic root. The percentage of particles traveling toward the brachiocephalic trunk was up to 20.33%. When the LVAD flow rate was 4 L/min, blood turbulence in the aorta was reduced, the RT of blood particles was shortened, and then the percentage of particles traveling toward the brachiocephalic trunk decreased to 10.54%. When the LVAD blood flow rate was 5 L/min and the direction of the outflow pipe was optimal, the RT of blood particles was shortened, and then the percentage of particles traveling toward the brachiocephalic trunk decreased to 11.22%. A 18-month follow-up observation of the patient revealed that the LVAD was in good working order and the patient had no complications related to the implantation of LVAD. CONCLUSIONS Implantation of LVAD results in a higher risk of cerebral infarction; When implanting LVAD with the same outflow tract direction, optimizing flow velocity and outflow tract can reduce the risk of cerebral infarction occurrence.
Heart-Assist Devices/adverse effects* ; Humans ; Heart Failure/physiopathology* ; Blood Flow Velocity ; Thromboembolism/prevention & control* ; Models, Cardiovascular ; Heart Ventricles/physiopathology* ; Imaging, Three-Dimensional

Visual system is a critical sensory system in humans and a vital component of the central nervous system, which is responsible for over 80% of external information acquisition.Visual function is a key indicator of overall health.With socioeconomic development, the public has higher expectations for eye health, shifting the focus of eye health initiatives from disease treatment to comprehensive public eye health.Key scientific challenges include how to effectively prevent, diagnose, and treat blindness and visual impairment at an early stage; how to enhance the overall visual quality of patients to ensure not just sight but clear and comfortable vision; and how to meet the public's diverse and multi-tiered eye health needs.Visual science is an interdisciplinary field exploring the development of the visual system, the mechanisms of vision, and brain-related perceptual, cognitive and behavioral processes involving sight.Prioritizing and advancing visual science research is of great significance for promoting comprehensive eye health and implementing the Healthy China Strategy.This article first outlines the concept and research significance of visual science.It then highlights the key scientific questions in visual science pertaining to several major eye diseases, such as myopia, amblyopia, cataract, fundus diseases, glaucoma, and corneal diseases, reviews the historical foundation of visual science research in China, selectively summarizes key achievements and ongoing progress in this field, analyzes the landscape and challenges faced by domestic research, and proposes, to this end, strategies to advance visual science in China.These recommendations are designed to promote visual science research in China and ultimately advance comprehensive eye health.

Visual system is a critical sensory system in humans and a vital component of the central nervous system, which is responsible for over 80% of external information acquisition.Visual function is a key indicator of overall health.With socioeconomic development, the public has higher expectations for eye health, shifting the focus of eye health initiatives from disease treatment to comprehensive public eye health.Key scientific challenges include how to effectively prevent, diagnose, and treat blindness and visual impairment at an early stage; how to enhance the overall visual quality of patients to ensure not just sight but clear and comfortable vision; and how to meet the public's diverse and multi-tiered eye health needs.Visual science is an interdisciplinary field exploring the development of the visual system, the mechanisms of vision, and brain-related perceptual, cognitive and behavioral processes involving sight.Prioritizing and advancing visual science research is of great significance for promoting comprehensive eye health and implementing the Healthy China Strategy.This article first outlines the concept and research significance of visual science.It then highlights the key scientific questions in visual science pertaining to several major eye diseases, such as myopia, amblyopia, cataract, fundus diseases, glaucoma, and corneal diseases, reviews the historical foundation of visual science research in China, selectively summarizes key achievements and ongoing progress in this field, analyzes the landscape and challenges faced by domestic research, and proposes, to this end, strategies to advance visual science in China.These recommendations are designed to promote visual science research in China and ultimately advance comprehensive eye health.

Objective To observe the clinical outcomes of double flap tympanic membrane repair with tragus and peri-chondrium under otoscope in the treatment of large tympanic membrane perforation.Methods Eighty patients with large tympanic membrane perforation admitted to Suzhou Kowloon Hospital,Shanghai Jiao Tong University School of Medicine from January 2018 to August 2022 were enrolled and divided into 2 groups by random number table method.Double flap tympanic membrane repair with tragus and peri-chondrium under microscope and otoscope were performed in microscope group and endoscopic group,respectively.The therapeutic effect was compared between the 2 groups.Results The operation time and hospital stay of the endoscopic group were shorter than those of the microscope group([49.02±7.77]min vs.[78.96±9.85]min,[4.89±1.02]d vs.[6.22±1.41]d),and intraoperative blood loss of the endoscopic group was less than that of the microscope group([7.21±2.25]ml vs.[14.55±5.23]ml).There was no significant difference in the incidence of complications between the 2 groups(P>0.05).Compared with preoperative ones,the auditory threshold of air conduction,auditory threshold of bone conduction,air bone gap and tinnitus grade were reduced in both groups 3 months after operation(P<0.05),while the scores of material life,social relationship,physical function and psychological function were increased,and the scores of the endoscopic group were significantly higher than those of the microscope group(P<0.05).There was no significant difference in the healing rate of eardrum 1 month or 3 months after operation between the 2 groups(P>0.05).Conclusion Otoscopic tympanic membrane repair has short operation time,less bleeding and quick postoperative recovery.It can improve hearing,alleviate tinnitus symptoms and improve patients'quality of life.

Objective To examine the characteristics of the prevalence of congenital cleft lip with/without cleft palate in the ethnic Tibetan population and to provide support for the precise prevention and treatment of cleft lip with/without cleft palate in the Tibetan population.Methods The clinical data of Tibetan patients with cleft lip with/without cleft palate were collected and the clinical characteristics of the patients were analyzed.The patients'age ranged from 2 months to 51 years old.All the subjects were admitted to West China Stomatology Hospital,Sichuan University for the treatment of cleft lip with/without cleft palate between January 2016 and August 2023.Most of the subjects came from Sichuan Province and the Tibet Autonomous Region.Results A total of 1 051 patients were enrolled and children aged under 12 months(460 cases)accounted for the largest proportion.Among the subjects,383 had cleft lip only(36.44%),140 had cleft palate only(13.32%),and 528 had cleft lip with cleft palate(50.24%).The male-to-female ratios of patients with cleft lip only(0.99∶1),cleft palate only(0.54∶1),and cleft lip with cleft palate(1.67∶1)exhibited significant differences(P＜0.001).However,there was no significant difference in the male-to-female ratio in patients with cleft lip only or those with cleft lip with cleft palate when the subjects were divided into two groups according to whether they had unilateral or bilateral cleft lip with/without cleft palate.Most of the patients with bilateral cleft lip were female,while most of the patients with unilateral cleft lip and unilateral or bilateral cleft lip with cleft palate were male.The unilateral cleft lip with/without cleft palate was located predominantly on the left side.Syndromic cleft lip with/without cleft palate accounted for 3.43%of all the cases and the most common concomitant deformity was congenital heart disease.3.81%(40 cases)of the patients had a family history.In the patients with cleft lip only and those with cleft palate only,the proportion of patients having parents with corresponding phenotypes was higher than those of other phenotypes of cleft lip with/without cleft palate.Regarding the birth time distribution of the children with cleft lip with/without cleft palate,Spring saw the highest number of births of these children(311 cases,29.59%),while Winter saw the lowest number of births(231 cases,21.98%).Conclusion The cases of cleft lip with/without cleft palate in the ethnic Tibetan population are predominantly cleft lip and palate.Unilateral cleft lip only or cleft lip with palate is predominantly located on the left side.Lip disease phenotypes may be more heritable.

Objective Congenital cleft lip and palate is a common birth defect that seriously affects the lives of the afflicted children and their families.Previously,no research has been done to investigate the pathogenic characteristics of cleft lip and palate among ethnic minorities,for example,Tibetans,a minority ethnic group with a large population in China.This study aims to investigate the relationship between the occurrence of cleft lip and palate in Tibetans and Han Chinese in western China and the distribution of ABO blood groups and Rh blood groups to provide a theoretical basis for the precise prevention and treatment of cleft lip and palate.Methods In this study,statistics on Tibetan patients with cleft lip and palate,some Han patients with cleft lip and palate,and normal controls from western China were retrospectively collected.All participants were patients from West China Stomatology Hospital,Sichuan University.All patients with cleft lip and palate received treatment at the hospital between January 2016 and September 2023.The normal controls were outpatients or inpatients who did not have cleft lip and palate,and who received treatment at the hospital between January 2020 and October 2023.Information on the A,B,O,and AB blood groups and Rh positive and negative blood groups of the patients was collected and compared with that of the normal controls.The incidence of different phenotypes,including cleft lip alone,cleft palate alone,and cleft lip with cleft palate,in patients of blood groups A,B,O and AB were statistically analyzed by Chi-square test.Results A total of 1227 Tibetan patients with cleft lip and palate,4064 Han patients with cleft lip and palate,and 5360 normal controls were included in the study.Among all the patients with cleft lip and palate,1863 had cleft lip alone,1425 had cleft palate alone,and 2003 had cleft lip with cleft palate.The ABO blood group distribution of Tibetan patients with cleft lip and palate was characterized as O＞B＞A＞AB,with Rh positive blood group accounting for 100%,blood type O accounting for 41.15%,and blood type B accounting for 30.64%.The blood group distribution of the Han patients with cleft lip and palate was characterized as O＞A＞B＞AB,with Rh positive blood group accounting for 99.58%,blood type O accounting for 35.78%,and type A accounting for 30.54%.There was a significant difference in ABO blood groups between Tibetan and Han patients with cleft lip and palate(P＜0.005),but no significant difference in Rh blood groups.The ABO blood group distribution of the Tibetan patients with cleft lip and palate showed an obvious difference from that of the control group,while those of the Han patients with cleft lip and cleft palate and the control group did not show obvious differences.In the analysis of the subtypes,it was found that the blood group distribution in the subtypes of cleft lip alone,cleft palate alone,and cleft lip with cleft palate in the Tibetan population was O＞B＞A＞AB,while that in the Han Chinese population was O＞A＞B＞AB.There were differences in blood group distribution between Tibetans and Hans of the subtypes of cleft lip alone and cleft lip with cleft palate(P＜0.001),but there was no difference in blood group distribution in the population of cleft palate-only subtype.The proportion of blood type O in Tibetan patients with cleft lip and palate was significantly higher than that in the Han patients with cleft lip and palate.The blood group distribution of Tibetan patients with cleft lip and palate in Sichuan Province,Xizang Autonomous Region,and Qinghai Province was always O＞B＞A＞AB.Tibetan patients from Shiqu County and Baiyu County,Ganzi Tibetan Autonomous Prefecture and Chaya County,Qamdo City were predominantly of blood type B,and those from other regions were mainly of blood type O.Conclusion There were significant differences in the phenotype composition and ABO blood group distribution between the Tibetan and Han populations with cleft lip and palate in western China.The distribution of blood group O in the population with cleft lip and palate was higher than that in the normal population,and the same trend was observed for different phenotypes.However,differences between Tibetan and Han populations in ABO blood group distribution were only found in the phenotypes of cleft lip only and cleft lip with palate.Tibetans with blood type O are more prone to cleft lip deformity than Han people,and the effect in the phenotype of cleft lip with palate is less pronounced than that in the phenotype of cleft lip only.

Uncommon epidermal growth factor receptor (EGFR) mutations account for 10%-20% of all EGFR mutations in non-small-cell lung cancer (NSCLC). The uncommon EGFR-mutated NSCLC is associated with poor clinical outcomes and generally achieved unsatisfactory effects to the current therapies using standard EGFR-tyrosine kinase inhibitors (TKIs), including afatinib and osimertinib. Therefore, it is necessary to develop more novel EGFR-TKIs to treat uncommon EGFR-mutated NSCLC. Aumolertinib is a third-generation EGFR-TKI approved in China for treating advanced NSCLC with common EGFR mutations. However, it remains unclear whether aumolertinib is effective in uncommon EGFR-mutated NSCLC. In this work, the in vitro anticancer activity of aumolertinib was investigated in engineered Ba/F3 cells and patient-derived cells bearing diverse uncommon EGFR mutations. Aumolertinib was shown to be more potent in inhibiting the viability of various uncommon EGFR-mutated cell lines than those with wild-type EGFR. And in vivo, aumolertinib could also significantly inhibit tumor growth in two mouse allograft models (V769-D770insASV and L861Q mutations) and a patient-derived xenografts model (H773-V774insNPH mutation). Importantly, aumolertinib exerts responses against tumors in advanced NSCLC patients with uncommon EGFR mutations. These results suggest that aumolertinib has the potential as a promising therapeutic candidate for the treatment of uncommon EGFR-mutated NSCLC.

Hip fracture is considered as the most severe osteoporotic fracture characterized by high disability and mortality in the elderly. Improved surgical techniques and multidisciplinary team play an active role in alleviating prognosis, which places higher demands on perioperative nursing. Dysfunction, complications, and secondary impact of anaesthesia and surgery add more difficulties to clinical nursing. Besides, there still lack clinical practices in perioperative nursing for elderly patients with hip fracture in China. In this context, led by the Orthopedic Nursing Committee of Chinese Nursing Association, the Expert consensus on clinical practice in perioperative nursing for elderly patients with hip fracture ( version 2023) is developed based on the evidence-based medicine. This consensus provides 11 recommendations on elderly patients with hip fracture from aspects of perioperative health education, condition monitoring and inspection, complication risk assessment and prevention, and rehabilitation, in order to provide guiding advices for clinical practice, improve the quality of nursing and ameliorate the prognosis of elderly patients with hip fracture.

Objective:To analyze the results of the joint screening of newborn hearing and deafness genes in Dalian to provide a reference for the prevention and control of hereditary deafness.Methods:Eight hundred and forty-two neonates born in Dalian Women and Children′s Medical Group from January 1, 2022 to May 30, 2022 were screened retrospectively, using AABR (automatic brainstem evoked potential). And 20 mutation sites of common genetic deafness 4 genes , including GJB2, GJB3, SLC26A4 (PDS) and mitochondrial genes associated with drug-induced deafness (MT-RNRI)(12SrRNA), were detected by high-throughput sequencing.Results:Among the 842 newborns, 840 passed hearing screening (99.8%); 36 cases (4.3%) passed the hearing screening but not the hearing loss gene screening; 804 cases passed through the both screening (95.5%); 2 cases (0.24%) failed in the both screening. 38 cases of deafness gene mutations were detected, with a total carrying rate of 4.51% (38/842). Among them, the carrying rates of heterozygous mutations in GJB2, GJB3, SLC26A4 (PDS), MT-RNRI (12SrRNA) were 1.90%, 0.24%, 1.30%, and 0.95%, respectively. The carrying rates of GJB2/GJB3 composite heterozygous mutations were 0.12%.Conclusions:The combined screening of neonatal hearing and deafness genes can reduce the missed rate of hearing screening. The carrier rate of neonatal deafness gene in Dalian is 4.51%, with the highest GJB 2 carrier rate, followed by SLC26A4 (PDS) carrier rate.