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*

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.

The syndrome of dampness stagnancy due to spleen deficiency (DSSD) is relatively common globally. Although the pathogenesis of DSSD remains unclear, evidence has suggested that the gut microbiota might play a significant role. Radix Astragali, used as both medicine and food, exerts the effects of tonifying spleen and qi. Astragalus polysaccharide (APS) comprises a macromolecule substance extracted from the dried root of Radix Astragali, which has many pharmacological functions. However, whether APS mitigates the immune disorders underlying the DSSD syndrome via regulating gut microbiota and the relevant mechanism remains unknown. Here, we used DSSD rats induced by high-fat and low-protein (HFLP) diet plus exhaustive swimming, and found that APS of moderate molecular weight increased the body weight gain and immune organ indexes, decreased the levels of interleukin-1β (IL-1β), IL-6, and endotoxin, and suppressed the Toll-like receptor 4/nuclear factor-‍κB (TLR4/NF-‍κB) pathway. Moreover, a total of 27 critical genera were significantly enriched according to the linear discriminant analysis effect size (LEfSe). APS increased the diversity of the gut microbiota and changed its composition, such as reducing the relative abundance of Pseudoflavonifractor and Paraprevotella, and increasing that of Parasutterella, Parabacteroides, Clostridium XIVb, Oscillibacter, Butyricicoccus, and Dorea. APS also elevated the contents of short-chain fatty acids (SCFAs). Furthermore, the correlation analysis indicated that 12 critical bacteria were related to the body weight gain and immune organ indexes. In general, our study demonstrated that APS ameliorated the immune disorders in DSSD rats via modulating their gut microbiota, especially for some bacteria involving immune and inflammatory response and SCFA production, as well as the TLR4/NF-κB pathway. This study provides an insight into the function of APS as a unique potential prebiotic through exerting systemic activities in treating DSSD.
Rats ; Animals ; NF-kappa B/metabolism* ; Spleen ; Gastrointestinal Microbiome ; Toll-Like Receptor 4 ; Polysaccharides/pharmacology* ; Astragalus Plant/metabolism* ; Immune System Diseases/drug therapy* ; Body Weight

Objective:To analyze the clinicopathological features of intraabdominal bronchogenic cyst.Methods:The clinical data of 8 patients with intraabdominal bronchogenic cyst admitted in 3 Grade-A tertiary hospitals in Yunnan province between 2014 and 2023 were retrospectively analyzed. The clinical and pathological features, diagnosis, treatment and prognosis of intraabdominal bronchogenic cyst were reviewed.Results:There were 1 male and 7 females with an mean age of 45±12 years (21-65 years). Two patients presented with abdominal pain and 5 asymptomatic patients were found during physical examination. The cysts were located in retroperitoneum in 4 cases, located between the pancreas tail, spleen and the posterior wall of the stomach in 2 cases, located in the posterior wall of the stomach in 1 case, and located close to left adrenal gland in 1 case. Two patients had elevated tumor markers, while tumor markers in the remaining 6 cases were normal. Seven cases underwent laparoscopic complete cyst resection and 1 case had open surgical resection. The wall of most cysts were lined with respiratory epithelium and composed of goblet cells or pseudostratified ciliated columnar epithelium. The wall of cysts was composed of fibrous connective tissue or smooth muscle bundles, and the cavity contained serous mucous glands. Two cases showed cartilage tissue and one showed the infiltration of large number of inflammatory cells. The mean follow-up time was 31±32 months (range 5-107 months), and no recurrence or metastasis was found during the follow-up.Conclusions:Abdominal bronchogenic cyst is often found in adulthood, and most cases are symptomatic and found during physical examination. The diagnosis mainly depends on pathological examination, and tumor markers are not specific for its diagnosis. Surgery is the best way for treatment.

Objective To explore the value of serum IgA,serum C3 and IgA/C3 ratio in the diagnosis and clinical monitoring of IgA nephropathy,which provide new insight for the alternatives of renal biopsy. Methods In the first affiliated hospital of Dalian Medical University,60 patients with IgAN,60 patients with non-IgAN and 40 healthy people were detected by blood biochemical indexes and immune indexes,such as the Urea,serum IgA and serum C3,IgA/C3 ratio. According to the healthy condition and Lee grading,we divided all the 160 patients into different groups. By comparing the blood biochemical indexes and immune indexes among these different groups,we investigated the relationship between the serum IgA/C3 ratio and the IgAN.Results Firstly,the level of serum IgA and IgA/C3 were obviously different among the patients with IgAN,patients with non-IgAN and healthy people(P<0.01).Secondly,the serum IgA and IgA/C3 have high specificity and sensitivity when distin-guishing between IgAN and non IgAN. Thirdly,the level of serum IgA and IgA/C3 have significant deference be-tween the patients with Lee Ⅰ-Ⅱ grading and the patients with Lee Ⅲ-Ⅴ grading,while the level of C3 is very similar between different groups in all the three situations mentioned above. Conclusion Our research provides stronge evidence demonstrates that the level of serum IgA/C3 ratio have close relationship with IgAN and they can serve as the reference index when diagnosising and grading IgAN.

Objective To investigate the CT characteristics of retroperitoneal extra-adrenal paraganglioma(PGL).Methods CT findings of 11 patients with pathologically confirmed retroperitoneal extra-adrenal PGL were analyzed retrospectively,and the relevant literature was reviewed.All patients received plain CT as well as contrast-enhancement CT scan.Results All of the 11 tumors were located in the retroperitoneal space around large blood vessels,including 2 functional and 9 unfunctional extra-adrenal paragangliomas.Eight of 11 cases were benign tumors which presented as round or oval masses with sharp margins,separated from surrounding structures clearly;while the rest 3 cases,which with indistinct edge,even more with the invasion of surrounding structures (renal artery,renal venous and pancreas),were confirmed to be malignant.Most of the tumors were heterogeneous on plain CT.It was common to see intratumoral necrosis or cystic degeneration in the tumors (9 cases),while hemorrhage or calcification was uncommon,which was found in 3 and 2 cases,respectively.Homogeneous intensity was only observed in 2 masses with diameter less than 4 cm.On contrast-enhanced CT image, the solid part of the tumors presented continuously significant enhancement.Dilated feeding artery was found in or around the masses (8 cases) in artery phase.Conclusion There are certain characteristics of retroperitoneal extra-adrenal paraganglioma on CT scanning, which are helpful for preoperative diagnosis and treatment of this disease.

Objective To detect radiation-induced changes of temporal lobe normal-appearing white matter on conventional MRI following radiation therapy (RT) for nasopharyngeal carcinoma (NPC).Methods The clinical and imaging features of 75 patients with nasopharyngeal carcinoma were retrospectively analyzed,all patients were confirmed by biopsy.All patients performed conventional MRI and Diffusion-tensor imaging (DTI) examinations,and there was no abnormal finding on conventional MRI.Eighteen patients without radiotherapy were selected as the control group and fifty-seven patients with radiotherapy were as the experimental group.We divided the experimental group into five subgroups based on completion time of RT:group 1 (less than 3 months,n =16),group 2 (3 to 6 months,n =12),group 3 (6 to 9 months; n =10),group 4 (9 to12 months,n =8),and group 5 ( more than 12 months,n =11 ).The mean diffusivity ( MD),apparent diffusion coefficient ( ADC ),fractional anisotropy ( FA),radial diffusivity ( λ⊥ ) and axial diffusivity ( k ‖ ) were calculated in bilateral temporal lobe.One-way analysis of variance (one-way ANOVA) test was used for comparison among groups.Results The mean λ⊥ values of the control group and experimental groups ( group1-5 ) after radiotherapy were ( 6.075 ± 0.341 ) × 10 -4 (6.700±0.379) × 10-4,(6.976 ±0.527) ×10-4,(6.621 ±0.388) ×10-4,(6.751 ±0.460) ×10-4,(6.222 ±0.256) × 10-4 mm2/s,respectively.The mean λ ‖ values of the control group and experimental groups were (12.524±0.713) ×10-4,(11.764 ±0.574) ×l0-4,(11.842±0.471) ×10-4,(11.569 ± 0.552) × 10-4,( 12.050 ±0.614) × 10-4,( 12.100 ±0.529) × 10-4 mm2/s,respectively.The mean FA values of the control group and experimental groups were 0.452 ± 0.030,0.379 ± 0.028,0.382 ± 0.028,0.389 ± 0.032,0.388 ± 0.022,0.423 ± 0.232,respectively.The three indicators were significantly different among groups ( F =10.485,4.625,16.539,respectively,P ＜ 0.05 ). Multiple comparisons showed that λ⊥ increased significantly in group 1-4 compared with that in the control group.In group 5,λ ⊥ was not significantly different from that in the control group,λ ‖ decreased in group 1-3 compared with that in the control group,but was not significantly different in the control group and group 4-5. In all experimental groups,FA decreased significantly. MD and ADC values in experimental groups were not significantly different from those in the control group. Conclusion Diffusion tensor imaging is a noninvasive and quantitative method to detect the structural changes in WM after RT and can provide scientific evidence for the early diagnosis and intervention treatment of radiation-induced changes.

Continuous medical imaging education is important for radiologists to improve their image diagnosis ability.In order to adapt to the development of medical education,the department of radiology in Tangdu hospital had built a set of teaching-picture archiving and communication system (TPACS) with its own intellectual property rights based on its own advantages.This system was actively put into use for scholar radiologists and the efficiency and quality of education as well as the development of continuous education for scholar radiologists were improved and promoted conspicuously.