OBJECTIVE: To establish and validate a novel diabetic retinopathy (DR) risk-prediction model using a whole-exome sequencing (WES)-based machine learning (ML) method. METHODS: WES was performed to identify potential single nucleotide polymorphism (SNP) or mutation sites in a DR pedigree comprising 10 members. A prediction model was established and validated in a cohort of 420 type 2 diabetic patients based on both genetic and demographic features. The contribution of each feature was assessed using Shapley Additive explanation analysis. The efficacies of the models with and without SNP were compared. RESULTS: WES revealed that seven SNPs/mutations ( rs116911833 in TRIM7, 1997T>C in LRBA, 1643T>C in PRMT10, rs117858678 in C9orf152, rs201922794 in CLDN25, rs146694895 in SH3GLB2, and rs201407189 in FANCC) were associated with DR. Notably, the model including rs146694895 and rs201407189 achieved better performance in predicting DR (accuracy: 80.2%; sensitivity: 83.3%; specificity: 76.7%; area under the receiver operating characteristic curve [AUC]: 80.0%) than the model without these SNPs (accuracy: 79.4%; sensitivity: 80.3%; specificity: 78.3%; AUC: 79.3%). CONCLUSION Novel SNP sites associated with DR were identified in the DR pedigree. Inclusion of rs146694895 and rs201407189 significantly enhanced the performance of the ML-based DR prediction model.
Diabetic Retinopathy/diagnosis* ; Humans ; Machine Learning ; Male ; Female ; Polymorphism, Single Nucleotide ; Middle Aged ; Exome Sequencing ; Aged ; Adult ; Pedigree ; Diabetes Mellitus, Type 2/complications* ; Genetic Predisposition to Disease ; Mutation

Objective To evaluate the efficacy of elastic appliances in the early correction of Class Ⅱmalocclusions in the replacement dentition.Methods A total of 15 children aged 7-9 years who were admit-ted to the Affiliated Stomatology Hospital of Southwest Medical University from June 2018 to August 2023 were selected as the observation group,and 15 children who were consulted but not treated in the hospital dur-ing the same period were selected as the control group.The changes of bone tissue,dental and alveolar tissue,soft tissue and occlusal relationship before and after treatment were evaluated in the two groups.In addition,X-ray images of the observation group were collected every 8 to 10 months for the whole process dynamic mo-nitoring.Results Before treatment,there was no significant difference in all indexes between the two groups(P＞0.05).After treatment,there were statistical significances in the upper and lower alveolar base Angle(ANB),mandibular branch length(GO-CO),mandibular height(ANS-Me),mandibular position(S-GO),up-per central incisor inclination(U1-NA Angle),upper central incisor inclination convexity(U1-NA),lower central incisor process distance(L1-APo),the Z Angle and FH-N'Pg'Angle of soft tissue between the two groups(P＜0.05).After treatment,the covering OB and covering OJ in the observation group were lower than those in the control group,and the proportion of ClassⅠ patients in molar relationship was higher than that in the control group,with statistical significance(P＜0.05).After 3-4 years of treatment,ANB gradual-ly decreased,and the anterior-basilar plane-mandibular plane Angle(SN-MP)remained basically stable,and had a slight decreasing trend in the later period.The U1-NA Angle and the lower central incisor inclination(L1-NB Angle)were close to the normal mean during the whole treatment.Conclusion Using elastic appli-ances to treat patients with early replacement Class Ⅱ malocclusion,after 3-4 years monitoring and guid-ance,it can effectively improve the molar relationship,promote forward jaw growth,and create a harmonious and aesthetically pleasing facial soft tissue.

Background and aims:Studies indicate that the gut microbiota and its metabolites are involved in the progression of cardiovascular diseases,and enterohepatic circulation plays an important role in this progression.This study aims to identify potential probiotics for the treatment of unstable angina(UA)and elucidate their mechanisms of action.Methods:Initially,the gut microbiota from patients with UA and control was analyzed.To directly assess the effects of Bifidobacterium supplementation,10 patients with UA were enrolled and administered Bifidobacterium(630 mg per intake twice a day for 1 month).The fecal metagenome,serum trimethyl-amine N-oxide(TMAO)levels,and other laboratory parameters were evaluated before and after Bifido-bacterium supplementation.Results:After supplementing with Bifidobacterium for 1 month,there were statistically significant dif-ferences(P＜0.05)in TMAO,aspartate aminotransferase,total cholesterol,and low-density lipoprotein compared to before.Additionally,the abundance of Bifidobacterium longum increased significantly,although the overall abundance of Bifidobacterium did not reach statistical significance.The gut micro-biota,metabolites,and gut-liver axis are involved in the progression of UA,and potential mechanisms should be further studied.Conclusions:Metagenomic analysis demonstrated a reduced abundance of Bifidobacterium in patients with UA.Supplementation with Bifidobacterium restored gut dysbiosis and decreased circulating TMAO levels in patients with UA.This study provides evidence that Bifidobacterium may exert cardiovascular-protective effects through the gut-liver-heart axis.

Objective To investigate the value of detection of pelvic floor ultrasound parameters combined with serum relaxin(RLX)and estradiol(E2)levels in diagnosis of female stress urinary incontinence(SUI).Methods A total of 127 puerperae with SUI were selected as SUI group,and another 127 puerperae without SUI during the same period were selected as control group.The pelvic floor ultrasound parameters[bladder neck descent(BND),postvoid residual angle of the bladder-u-rethra(PUVA),and urethral rotation angle(URA)]and serum RLX and E2 levels were compared between the two groups.Binary Logistic regression analysis was used to screen independent influen-cing factors of female SUI,and the diagnostic efficacy of each index alone and their combination for female SUI was analyzed through the receiver operating characteristic(ROC)curve.Results The BND,PUVA,and URA values in the SUI group were greater than those in the control group,the ser-um RLX level was higher,and the serum E2 level was lower,with statistically significant differences(P＜0.05).Binary Logistic regression analysis showed that BND,PUVA,and E2 were independent influencing factors of female SUI(P＜0.05).ROC curve analysis revealed that the areas under the curve(AUCs)for the diagnosis of female SUI by BND,PUVA,URA,RLX,and E2 alone and their combination were 0.775,0.814,0.777,0.749,0.746,and 0.932,respectively.Their sensitivities were 90.6％,86.6％,57.5％,48.8％,100.0％,and 92.1％,and the specificities were 53.5％,68.5％,91.3％,92.1％,49.6％,and 77.2％,respectively.Conclusion The com-bined detection of pelvic floor ultrasound parameters including BND,PUVA,URA,and serum RLX and E2 levels has a high diagnostic value for female SUI.

AIM: To investigate the acute clinical manifestations of cosmetology-related ocular damage(COD).METHODS:Retrospective study. A total of 53 cases(89 eyes)with ocular damage caused by cosmetology from April 2016 to October 2021 were collected. The clinical features were analyzed, including age, gender, affected eye(s), clinical manifestations, injury cause, treatment procedures, and prognosis.RESULTS: All 53 patients were female, aged 22-45 years, with an average age of 28.4±6.7 years. Monocular injuries were observed in 17 patients, and binocular injuries in 36 patients. The same eye could exhibit two or more ocular damage simultaneously. The primary cosmetology procedures causing COD were eyeliner tattooing(38 eyes; 43%), eyelash extensions(18 eyes; 20%), removal of false eyelashes(11 eyes; 12%), mascara application(8 eyes; 9%), double eyelid surgery(6 eyes; 7%), and others(8 eyes; 9%). Major ocular damages included corneal damage(56 eyes; 63%), eyelid contact dermatitis(26 eyes; 29%), conjunctivitis(19 eyes; 21%), reactive eyelid edema(13 eyes; 15%), ocular surface foreign bodies(12 eyes; 14%), bacterial infection of the palpebral margin(10 eyes; 11%), and others(5 eyes; 6%). These 5 eyes included 1 eye(1%)with central retinal artery occlusion caused by periocular injection of hyaluronic acid. The majority of patients(74 eyes)recovered within 1-2 wk with appropriate treatment, while filamentosa keratitis appeared in 3 eyes and the eye with central retinal artery occlusion had poor prognosis.CONCLUSIONS: COD predominantly occurs in young and middle-aged females with cosmetology experience. The most common cosmetology procedure leading to COD is eyeliner tattooing, and corneal damage is the most significant type of COD. COD can be effectively prevented and treated, resulting in a generally favorable prognosis.

Glyceryl phenylbutyrate(GPB)serves as a long-term management medication for Ornithine transcarbamylase deficiency(OTCD),effectively controlling hyperammonemia,but there is a lack of experience in using this medicine in China.This article retrospectively analyzes the case of a child diagnosed with OTCD at Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,including a review of related literature.After diagnosis,the patient was treated with GPB,followed by efficacy follow-up and pharmacological monitoring.The 6-year and 6-month-old male patient exhibited poor speech development,disobedience,temper tantrums,and aggressive behavior.Blood ammonia levels peaked at 327 μmol/L;urine organic acid analysis indicated elevated uracil levels;cranial MRI showed extensive abnormal signals in both cerebral hemispheres.Genetic testing revealed de novo mutation in the OTC gene(c.241T＞C,p.S81P).Blood ammonia levels were approximately 43,80,and 56 μmol/L at 1,2,and 3 months after starting GPB treatment,respectively.During treatment,blood ammonia was well-controlled without drug-related adverse effects.The patient showed improvement in developmental delays,obedience,temperament,and absence of aggressive behavior.

Objective To explore the clinical efficacy and safety of one-stage posterior lesion removal and internal spinal fixation in patients with lumbar Brucellosis spondylitis.Methods The clinical data of 24 patients admitted from October 2017 to October 2022 were retrospectively analyzed,2 patients were lost to follow-up at 10 months after surgery,at the final 22 cases were included in the study,including 13 males and 9 females with an average age of(52.00±6.89)years old,were treated with one-stage posterior lesion removal and internal spinal fixation.The operation time,intraoperative bleeding,follow-up time,ery-throcyte sedimentation rate(ESR)and C-reactive protein(CRP)before and after operation were recorded.The pain visual ana-logue scale(VAS),Oswestry disability index(ODI),the Japanese Orthopaedic Association(JOA)score for neurofunction,American Spinal Injury Association(ASIA)spinal cord injury grade and modified MacNab criteria were ussed to evaluate the efficacy.Results All patients were followed up from 12 to 30 months with an average of(17.41±4.45)months.The operation time was 70 to 155 min with an average of(1 16.59±24.32)min;the intraoperative bleeding volume was 120 to 520 ml with an average of(275.00±97.53)ml.CRP and ESR levels decreased more significantly at 1 week and at the final follow-up than pre-operative levels(P＜0.05).VAS,JOA score and ODI at 1 week and at the latest follow-up were more significantly improved than preoperative results(P＜0.05).There was no significant difference between ASIA preoperative and 1 week after operation(P＞0.05),and a significant difference between preoperative and last follow-up(P＜0.05).In the final follow-up,21 patients had ex-cellent efficacy,1 patient had fair,and there was no recurrence during the follow-up.Conclusion One-stage transpedicular le-sion removal and internal spinal fixation,with few incisions and short operation time,helps the recovery of neurological func-tion,and the prognosis meets the clinical requirements,which can effectively control Brucella spondylitis.

Objective To investigate the feasibility of translocation of pedicled buccal fat pad in the treatment of the temporomandibular joint ankylosis(TMJA)by measuring the diameter of buccal fat pad and related anatomical structures of the transverse blood vessels,nerves and temporomandibular joint.Methods A total of 40 adult head and neck specimens were randomly divided into group A and group B,with 20 cases in each group.The morphology of the buccal fat pad in group A was observed,and its size and compression diameter through blood vessels and nerves were measured.The anatomical structures of the temporomandibular joint in group B were observed and measured.Results The volume of buccal fat pad in group A was(10.10±1.10)mL on the left side and(9.70±1.50)mL on the right side.The longitudinal axis length of buccal fat pad was(28.18±1.35)mm on the left side and(29.47±1.12)mm on the right side;Transverse axis length of buccal fat pad was(18.56±1.67)mm on the left side and(18.97±1.73)mm on the right side;There are facial artery,facial vein,maxillary artery branch,facial nerve buccal branch and so on through the buccal fat pad.In group B,the sagittal section of the temporomandibular joint disc presented S-type in 15 cases(75.0%),L-type in 3 cases(15.0%),and transitional type in 2 cases(10.0%).Anterior and posterior diameter of the articular disc was(14.42±1.94)mm on the left side and(15.34±1.37)mm on the right side;inside and outside diameter of the articular disc was(20.18±1.77)mm on the left side and(19.57±1.32)mm on the right side.Branches of maxillary artery and superficial temporal artery were respectively distributed within and outside the joint.Conclusion The pedicled buccal fat pad has a constant anatomical position,abundant blood supply,strong tissue repair,anti-infection ability and"buffer pad"function,which can reduce the formation of scar after surgery for TMJA,reduce the postoperative recurrence rate,and contribute to the recovery of joint function after surgery.

Objective To observe the course and diameter of facial artery branches and its adjacent structures in nasolabial groove area and the positional relationship,so as to provide reference for clinicians to carry out facial cosmetic repair surgery.Methods A total of 40 adult head and neck specimens were dissected on the spot,and the course and position of the facial artery branches,facial vein and facial nerve in the nasolabial groove area were observed,their diameters were measured,and relevant data were recorded.Results There were 4 types of facial artery branches in the nasolabial groove area:type Ⅰ(upper lip type)accounted for 12.5%,type Ⅱ(nasal type)accounted for 62.5%,type Ⅲ(classical type)accounted for 20.0%,and type Ⅳ(double severe type)accounted for 5.0% .There were 4 kinds of positional relationship between the facial artery and the facial vein in the nasolabial groove area:42.5% of the orofacial artery was located on the medial side of the facial vein,32.5% of the orofacial artery was located on the lateral side of the facial vein,17.5% of the two were close to and wrapped in a fascial sheath,7.5% of the orofacial artery and the main trunk of the facial vein were crossed,and the vein was located in the deep surface of the artery.There were 3 kinds of positional relationship between the facial artery and the marginal mandibular branch of the facial nerve:87.5% of the facial artery was deep on the marginal mandibular branch of the facial nerve,7.5% of the facial artery was superficial on the marginal mandibular branch of the facial nerve,and 5.0% of the facial artery was held or surrounded by two branches of the marginal mandibular branch of the facial nerve on the superficial or deep surface.Conclusion The positional relationship among facial artery,facial vein and facial nerve in the nasolabial groove area is complicated.Familiarity with its positional relationship can avoid damaging blood vessels and nerves during the nasorabial groove surgery,reduce surgical complications and improve surgical safety.

Sucrose synthase plays a crucial role in the plant sugar metabolism pathway by catalyzing the production of uridine diphosphate (UDP)-glucose, which serves as a bioactive glycosyl donor for various metabolic processes. In this study, a sucrose synthase gene named CtSus was cloned from Cistanche tubulosa, a traditional Chinese medicine known for its rich content of diverse glycosides, based on transcriptome analysis results. The open reading frame of CtSus was 2 418 bp long encoding 805 amino acids. Sequence analysis revealed conserved domains associated with the plant sucrose synthase family at both the N-terminal and C-terminal regions of CtSus protein. Phylogenetic analysis demonstrated that CtSus shares a close evolutionary relationship with sucrose synthases from other plants within the same order. Functional identification of CtSus was performed through whole-cell catalysis coupling with UGT71BD1, a characterized glycosyltransferase enzyme. The results showed that the introduction of CtSus significantly enhanced the conversion rate of glycosylation catalyzed by UGT71BD1. The soluble expression of CtSus in Escherichia coli was further achieved using the pCold^TM TF expression vector. In vitro enzymatic assay indicated the activity of CtSus to catalyze the formation of UDP-glucose in the presence of sucrose and UDP. Real-time quantitative-polymerase chain reaction results showed that the expression patterns of CtSus gene in different parts of C. tubulosa and the suspension cell cultures of C. tubulosa under drought stress correlated with the accumulation patterns observed for phenylethanol glycosides, respectively. Furthermore, key amino acids and their interactions between enzyme and substrate were explored based on protein structure prediction and molecular docking results. Overall, our findings identify a sucrose synthase CtSus responsible for the supply of the active glycosyl donor UDP-glucose during the biosynthesis of glycoside products in C. tubulosa and have also provided a gene element that can be utilized in engineering strain construction for glycoside products production.