1.A systematic evaluation of the public health governance capacity of 40 cities in Jiangsu, Zhejiang, and Anhui Provinces
Huayi ZHANG ; Qingyu ZHOU ; Huihui HUANGFU ; Peiwu SHI ; Qunhong SHEN ; Chaoyang ZHANG ; Zheng CHEN ; Chuan PU ; Lingzhong XU ; Anning MA ; Zhaohui GONG ; Tianqiang XU ; Panshi WANG ; Hua WANG ; Chao HAO ; Zhi HU ; Chengyue LI ; Mo HAO
Shanghai Journal of Preventive Medicine 2025;37(5):451-457
		                        		
		                        			
		                        			ObjectiveTo systematically evaluate the public health governance capacity of 40 cities in Jiangsu, Zhejiang, and Anhui Provinces, providing a scientific evaluation basis for building a "Healthy Yangtze River Delta". MethodsA comprehensive collection of policy documents, public information reports, and research literature related to public health governance capacity in Jiangsu, Zhejiang, and Anhui Provinces was conducted, totaling 6 920 policy documents, 1 720 information reports, and 1 200 literature pieces. Based on the evaluation standards for an appropriate public health system established by the research team, the basic status of public health governance capacity was assessed to identify the strengths and weaknesses of the 40 cities. ResultsIn 2022, the public health governance capacity score for the 40 cities in Jiangsu, Zhejiang, and Anhui Provinces was (562.5±38.0) points. In terms of specific areas, the emergency response field received the highest score of (791.4±49.7) points, while the chronic disease prevention and control field received the lowest score of (368.2±29.6) points. The Jiangsu-Zhejiang-Anhui region has largely achieved the strategic priority of health, gradually improved public health legal regulations, and established a basic organizational framework with a solid foundation for information and data infrastructure. However, challenges still need to be addressed, such as unstable government funding for public health, unclear departmental responsibilities, and barriers to information interoperability. ConclusionThe public health governance capacity of the 40 cities in Jiangsu, Zhejiang, and Anhui Province has been at a moderate level, but disparities have still existed across regions and fields. In the future, while continuing to deepen existing advantages, it is essential to accurately identify the causes of problems, establish a long-term and stable investment mechanism, enhance information connectivity mechanisms, further clarify departmental responsibilities, and promote the achievement of the "Healthy Yangtze River Delta" goal. 
		                        		
		                        		
		                        		
		                        	
2.Observation of acute clinical manifestations of cosmetology-related ocular damage
Jian JIAO ; Wen HUA ; Chongyang SHE ; Weiwei ZHU ; Xuedong LI
International Eye Science 2024;24(7):1152-1156
		                        		
		                        			
		                        			 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. 
		                        		
		                        		
		                        		
		                        	
3.Excision of the deep layer of dartos fascia in the treatment of congenital severe concealed penis in children
Xing LI ; Enmeng YUAN ; Chaoyang HUA ; Liangbin LI ; Yanfang YANG
Chinese Journal of Plastic Surgery 2024;40(7):765-770
		                        		
		                        			
		                        			Objective:To present the experience of the anatomical of dartos fascia and describe a new technique for the correction of congenital severe concealed penis.Methods:This retrospective study was conducted on patients with congenital severe concealed penis who underwent surgery at Department of Urology, Children’s Hospital Affiliated with Zhengzhou University from January 2021 to December 2022. Reflex erection tests were routinely performed before surgery. The technique involved creating a median longitudinal incision combined with a curved incision of the ventral penile skin, dividing and excising the deep layer of dartos fascia, fixing the subcutaneous dermis at the pubic symphysis with sutures to the tunica albuginea of the penile root, and transferring the skin of the ventral root of the penis and scrotum to match the internal plate to cover the shaft of the penis. Follow-up of complications occurred after surgery, and the surgical effect was evaluated 6 months after surgery.Results:A total of 54 patients were enrolled, aged 2.8-10.0 years, with a median age of 6.7 years. In the presence of reflex erection, the penile skin was severely deficient in children with congenital severe concealed penis. The surgery was successfully completed, and the postoperative appearance was circumcised. In 43 cases with partial penile scrotal transposition, the transposition was corrected simultaneously. The incision healed well after surgery, with no infection or incisional dehiscence. Follow-up for 6 to 20 months, with an average of 12 months, showed mild edema of the prepuce in all children, which disappeared within 2 to 4 weeks after surgery. In 51 cases, the penis body showed good exposure, with no swelling of the penis skin and no retraction of the penis. The family members were satisfied with the appearance of the penis. The penis was partially retracted in 3 cases, that affected the appearance of the penis during the sitting position.Conclusion:In congenital severe concealed penis with severe skin deficiency, a deep dartos fascia was excised using a ventral median penile combined with a curved scrotal incision approach, and the penile root and scrotal skin covered the penile body with a circumcised appearance after surgery. The scrotal transposition of the penis was corrected at the same time to give the external genitalia an optimal appearance and provide good functional and cosmetic result.
		                        		
		                        		
		                        		
		                        	
4.Effect of laparoscopic medial umbilical ligament dissection in two-stage Fowler-Stephens orchiopexy
Zhan GUO ; Yanfang YANG ; Jianpeng BI ; Liangbin LI ; Xiaopeng CHEN ; Hongjie FAN ; Xing LI ; Enmeng YUAN ; Chaoyang HUA
Chinese Journal of Applied Clinical Pediatrics 2024;39(10):770-773
		                        		
		                        			
		                        			Objective:To summarize the clinical effect of laparoscopic medial umbilical ligament dissection in two-stage Fowler-Stephens orchiopexy (FSO).Methods:A case-series study was conducted.Clinical data of children who underwent two-stage FSO from March 2020 to July 2022 in the Department of Urology, Children′s Hospital Affiliated to Zhengzhou University were retrospectively analyzed.Indexes such as operation time, amount of blood loss, degree of postoperative pain in the operative area, testicular position, size, texture and parental satisfaction at the operative side 1 month, 6 months and 1 year after surgery were collected.Measurement data of normal distribution were expressed as Mean± SD and compared using the independent sample and paired sample t-tests. Results:A total of 18 children with complete clinical data were included in this study.Their age ranged from 7 months to 10 years, with an average of 2 years.There were 10 cases of FSO on the left side and 8 cases on the right side.Twelve cases (group A) had the testis directly descending to the scrotum without amputation of the umbilical medial ligament during the operation, including 7 cases on the left side and 5 cases on the right side; 6 cases (group B) with testis not descending to the scrotum received amputation of the umbilical medial ligament, and the testicle was pulled into the scrotum without tension, including 3 cases on the left side and 3 cases on the right side.The age of patients in group A [(0.88±0.26) years] was lower than that in group B [(4.32±2.96) years] ( t=-4.11, P<0.05).The operation time of patients in group B was (47.50±1.87) min, slightly longer than that in group A [(46.17±1.47) min] ( t=-1.66, P>0.05).The intraoperative bleeding volume in group B was (5.18±0.42) mL, slightly higher than that in group A [(4.96±0.20) mL] ( t=-1.56, P>0.05).Patients in both groups had mild pain in the operative area, which could be tolerated by the children.There were no significant differences in testicular position, size, texture and satisfaction between the two groups 1 month after surgery.Reexamination at 6 months after operation showed that 1 case in group A had mild testicular retraction, located above the scrotum; no significant testicular retraction was observed in group B; the size and texture of testis in both groups had no significant change compared with those before operation, and the blood supply was normal according to the color ultrasound findings; parental satisfaction was high.Reexamination at 1 year after operation showed that 1 case of testis in group A was located above the scrotum, 2 cases had no obvious development, and the rest cases had increased testis size [(0.51±0.03) mL] compared with before operation [(0.31±0.02) mL] ( t=-22.97, P<0.05); all cases of testis in group B returned to normal position, 1 case had no obvious development, and the rest cases had increased testis size [(0.45±0.02) mL] compared with before operation [(0.24±0.01) mL] ( t=-32.87, P<0.05).There was no significant difference in testicular size increase between group A [(0.20±0.03) mL] and group B [(0.20±0.01) mL] ( t=-1.19, P>0.05). Conclusions:In the case that the medial umbilical ligament obviously affects the testicular descent, it can be dissected, which significantly shortens the distance of testis descending to the scrotum.The testicular position after surgery is normal, and the two-stage FSO does not affect the testicular development.
		                        		
		                        		
		                        		
		                        	
5.Excision of the deep layer of dartos fascia in the treatment of congenital severe concealed penis in children
Xing LI ; Enmeng YUAN ; Chaoyang HUA ; Liangbin LI ; Yanfang YANG
Chinese Journal of Plastic Surgery 2024;40(7):765-770
		                        		
		                        			
		                        			Objective:To present the experience of the anatomical of dartos fascia and describe a new technique for the correction of congenital severe concealed penis.Methods:This retrospective study was conducted on patients with congenital severe concealed penis who underwent surgery at Department of Urology, Children’s Hospital Affiliated with Zhengzhou University from January 2021 to December 2022. Reflex erection tests were routinely performed before surgery. The technique involved creating a median longitudinal incision combined with a curved incision of the ventral penile skin, dividing and excising the deep layer of dartos fascia, fixing the subcutaneous dermis at the pubic symphysis with sutures to the tunica albuginea of the penile root, and transferring the skin of the ventral root of the penis and scrotum to match the internal plate to cover the shaft of the penis. Follow-up of complications occurred after surgery, and the surgical effect was evaluated 6 months after surgery.Results:A total of 54 patients were enrolled, aged 2.8-10.0 years, with a median age of 6.7 years. In the presence of reflex erection, the penile skin was severely deficient in children with congenital severe concealed penis. The surgery was successfully completed, and the postoperative appearance was circumcised. In 43 cases with partial penile scrotal transposition, the transposition was corrected simultaneously. The incision healed well after surgery, with no infection or incisional dehiscence. Follow-up for 6 to 20 months, with an average of 12 months, showed mild edema of the prepuce in all children, which disappeared within 2 to 4 weeks after surgery. In 51 cases, the penis body showed good exposure, with no swelling of the penis skin and no retraction of the penis. The family members were satisfied with the appearance of the penis. The penis was partially retracted in 3 cases, that affected the appearance of the penis during the sitting position.Conclusion:In congenital severe concealed penis with severe skin deficiency, a deep dartos fascia was excised using a ventral median penile combined with a curved scrotal incision approach, and the penile root and scrotal skin covered the penile body with a circumcised appearance after surgery. The scrotal transposition of the penis was corrected at the same time to give the external genitalia an optimal appearance and provide good functional and cosmetic result.
		                        		
		                        		
		                        		
		                        	
6.Population structure of food-borne Staphylococcus aureus in China.
Ya Hui GUO ; Zi Long HE ; Qing Long JI ; Hai Jian ZHOU ; Fan Liang MENG ; Xiao Feng HU ; Xiao Yue WEI ; Jun Cai MA ; Yu Hua YANG ; Wei ZHAO ; Li Jin LONG ; Xin WANG ; Jia Ming FAN ; Xiao Jie YU ; Jian Zhong ZHANG ; De HUA ; Xiao Mei YAN ; Hai Bin WANG
Chinese Journal of Epidemiology 2023;44(6):982-989
		                        		
		                        			
		                        			Objective: To understand the population structure of food-borne Staphylococcus (S.) aureus in China. Methods: Whole genome sequencing was used to analyze 763 food-borne S. aureus strains from 16 provinces in China from 2006 to 2020. Multilocus sequence typing (MLST), staphylococcal protein A gene (spa) typing, and staphylococcal chromosome cassettemec (SCCmec) typing were conducted, and minimum spanning tree based on ST types (STs) was constructed by BioNumerics 7.5 software. Thirty-one S. aureus strains isolated from imported food products were also included in constructing the genome phylogenetic tree. Results: A total of 90 STs (20 novel types) and 160 spa types were detected in the 763 S. aureus isolates. The 72 STs (72/90, 80.0%) were related to 22 clone complexes. The predominant clone complexes were CC7, CC1, CC5, CC398, CC188, CC59, CC6, CC88, CC15, and CC25, accounting for 82.44% (629/763) of the total. The STs and spa types in the predominant clone complexes changed over the years. The methicillin-resistant S. aureus (MRSA) detection rate was 7.60%, and 7 SCCmec types were identified. The ST59-t437-Ⅳa (17.24%, 10/58), ST239-t030-Ⅲ (12.07%, 7/58), ST59-t437-Ⅴb (8.62%, 5/58), ST338-t437-Ⅴb (6.90%, 4/58) and ST338-t441-Ⅴb (6.90%, 4/58) were the main types in MRSA strains. The genome phylogenetic tree had two clades, and the strains with the same CC, ST, and spa types clustered together. All CC7 methicillin sensitive S. aureus strains were included in Clade1, while 21 clone complexes and all MRSA strains were in Clade2. The MRSA strains clustered according to the SCCmec and STs. The strains from imported food products in CC398, CC7, CC30, CC12, and CC188 had far distances from Chinese strains in the tree. Conclusions: In this study, the predominant clone complexes of food-borne strains were CC7, CC1, CC5, CC398, CC188, CC59, CC6, CC88, CC15, and CC25, which overlapped with the previously reported clone complexes of hospital and community-associated strains in China, suggesting that close attention needs to be paid to food, a vehicle of pathogen transmission in community and food poisoning.
		                        		
		                        		
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Staphylococcus aureus/genetics*
		                        			;
		                        		
		                        			Methicillin-Resistant Staphylococcus aureus/genetics*
		                        			;
		                        		
		                        			Multilocus Sequence Typing
		                        			;
		                        		
		                        			Phylogeny
		                        			;
		                        		
		                        			Staphylococcal Infections/epidemiology*
		                        			;
		                        		
		                        			China/epidemiology*
		                        			
		                        		
		                        	
7.Evaluation of the efficacy and safety of Nocardia rubra cell wall skeleton immunotherapy for cervical high-risk HPV persistent infection.
Fei CHEN ; Wen DI ; Yuan Jing HU ; Chang Zhong LI ; Fei WANG ; Hua DUAN ; Jun LIU ; Shu Zhong YAO ; You Zhong ZHANG ; Rui Xia GUO ; Jian Dong WANG ; Jian Liu WANG ; Yu Quan ZHANG ; Min WANG ; Zhong Qiu LIN ; Jing He LANG
Chinese Journal of Obstetrics and Gynecology 2023;58(7):536-545
		                        		
		                        			
		                        			Objective: To evaluate the efficacy and safety of Nocardia rubra cell wall skeleton (Nr-CWS) in the treatment of persistent cervical high-risk human papillomavirus (HR-HPV) infection. Methods: A randomized, double blind, multi-center trial was conducted. A total of 688 patients with clinically and pathologically confirmed HR-HPV infection of the cervix diagnosed in 13 hispital nationwide were recruited and divided into: (1) patients with simple HR-HPV infection lasting for 12 months or more; (2) patients with cervical intraepithelial neoplasia (CIN) Ⅰ and HR-HPV infection lasting for 12 months or more; (3) patients with the same HR-HPV subtype with no CINⅡ and more lesions after treatment with CINⅡ or CIN Ⅲ (CINⅡ/CIN Ⅲ). All participants were randomly divided into the test group and the control group at a ratio of 2∶1. The test group was locally treated with Nr-CWS freeze-dried powder and the control group was treated with freeze-dried powder without Nr-CWS. The efficacy and negative conversion rate of various subtypes of HR-HPV were evaluated at 1, 4, 8, and 12 months after treatment. The safety indicators of initial diagnosis and treatment were observed. Results: (1) This study included 555 patients with HR-HPV infection in the cervix (included 368 in the test group and 187 in the control group), with an age of (44.1±10.0) years. The baseline characteristics of the two groups of subjects, including age, proportion of Han people, weight, composition of HR-HPV subtypes, and proportion of each subgroup, were compared with no statistically significant differences (all P>0.05). (2) After 12 months of treatment, the effective rates of the test group and the control group were 91.0% (335/368) and 44.9% (84/187), respectively. The difference between the two groups was statistically significant (χ2=142.520, P<0.001). After 12 months of treatment, the negative conversion rates of HPV 16, 18, 52, and 58 infection in the test group were 79.2% (84/106), 73.3% (22/30), 83.1% (54/65), and 77.4% (48/62), respectively. The control group were 21.6% (11/51), 1/9, 35.1% (13/37), and 20.0% (8/40), respectively. The differences between the two groups were statistically significant (all P<0.001). (3) There were no statistically significant differences in vital signs (body weight, body temperature, respiration, pulse rate, systolic blood pressure, diastolic blood pressure, etc.) and laboratory routine indicators (blood cell analysis, urine routine examination) between the test group and the control group before treatment and at 1, 4, 8, and 12 months after treatment (all P>0.05); there was no statistically significant difference in the incidence of adverse reactions related to the investigational drug between the two groups of subjects [8.7% (32/368) vs 8.0% (15/187), respectively; χ2=0.073, P=0.787]. Conclusion: External use of Nr-CWS has good efficacy and safety in the treatment of high-risk HPV persistent infection in the cervix.
		                        		
		                        		
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Adult
		                        			;
		                        		
		                        			Middle Aged
		                        			;
		                        		
		                        			Cervix Uteri/pathology*
		                        			;
		                        		
		                        			Uterine Cervical Neoplasms/pathology*
		                        			;
		                        		
		                        			Papillomavirus Infections/diagnosis*
		                        			;
		                        		
		                        			Cell Wall Skeleton
		                        			;
		                        		
		                        			Persistent Infection
		                        			;
		                        		
		                        			Powders
		                        			;
		                        		
		                        			Uterine Cervical Dysplasia/pathology*
		                        			;
		                        		
		                        			Immunotherapy
		                        			;
		                        		
		                        			Papillomaviridae
		                        			
		                        		
		                        	
8.Clinicopathological features of Helicobacter pylori-negative early gastric cancer.
Wei Hua HOU ; Shu Jie SONG ; Zhong Yue SHI ; Mu Lan JIN
Journal of Peking University(Health Sciences) 2023;55(2):292-298
		                        		
		                        			OBJECTIVE:
		                        			To investigate the clinicopathological features of Helicobacter pylori (Hp)-negative early gastric cancer.
		                        		
		                        			METHODS:
		                        			The clinicopathological data of 30 cases of Hp-negative early gastric cancer were collected retrospectively at Pingdingshan Medical District, 989 Hospital of PLA Joint Logistics Support Force, and Beijing Chaoyang Hospital, Capital Medical University, from 2009 to 2021, and the histomorphological characteristics and immunophenotype were observed, and combined with the literature to explore.
		                        		
		                        			RESULTS:
		                        			The median age of 30 patients was 58.5 years (range: 21-80 years), including 13 males and 17 females. The upper part of the stomach was 13 cases, the middle part of the sto-mach was 9 cases, and the lower part of the stomach was 8 cases. The median diameter of the tumor was 11 mm (range: 1-30 mm). According to the Paris classification, 9 cases were 0-Ⅱa, 7 cases were 0-Ⅱb, and 14 cases were 0-Ⅱc. Endoscopic examination showed that 18 cases of lesions were red, 12 cases of lesions were faded or white, and microvascular structures and microsurface structures were abnormal. In all the cases, collecting venules were regularly arranged in the gastric body and corner mucosa. There were 18 cases of well differentiated adenocarcinoma in the mucosa. The tumor presented glandular tubular-like and papillary structure, with dense glands and disordered arrangement; the cells were cuboidal or columnar, with increased nuclear chromatin and loss of nuclear polarity, and most of them expressed gastric mucin. Signet-ring cell carcinoma was found in 7 cases, all the cancer tissues were composed of signet-ring cells, and the cancer cells were mainly distributed in the middle layer to the surface layer of mucosa. Gastric oxyntic gland adenoma (gastric adenocarcinoma of the fundic gland type confined to mucosa) in 2 cases, gastric adenocarcinoma of the fundic gland type in 2 cases, and gastric adenocarcinoma of fundic gland mucosa type in 1 case. The tumor tissue was composed of branching tubular glands, except 1 case of mucosal surface epithelium was partially neoplastic, the other 4 cases of mucosal surface epi-thelium were all non-neoplastic; the cells were arranged in a single layer, and the nucleus was close to the basal side, and the nucleus was only slightly atypical. Pepsinogen I and H+/K+ ATPase were positive in 5 cases of gastric fundus gland type tumors, and 1 case of foveolar-type tumor cells at the surface and depth of mucosa showed MUC5AC positive. The gastric mucosa adjacent to cancer was generally normal in all cases, without atrophy, intestinal metaplasia and Hp.
		                        		
		                        			CONCLUSION
		                        			Hp-negative early gastric cancer is a heterogeneous disease group with various histological types, and tubular adenocarcinoma and signet-ring cell carcinoma are common. Tubular adenocarcinoma mostly occurs in the elderly and the upper to middle part of the stomach, while signet-ring cell carcinoma mostly occurs in young and middle-aged people and the lower part of the stomach. Gastric neoplasm of the fundic gland type is relatively rare.
		                        		
		                        		
		                        		
		                        			Male
		                        			;
		                        		
		                        			Aged
		                        			;
		                        		
		                        			Middle Aged
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Young Adult
		                        			;
		                        		
		                        			Adult
		                        			;
		                        		
		                        			Aged, 80 and over
		                        			;
		                        		
		                        			Stomach Neoplasms/pathology*
		                        			;
		                        		
		                        			Helicobacter pylori
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Helicobacter Infections/diagnosis*
		                        			;
		                        		
		                        			Adenocarcinoma/pathology*
		                        			;
		                        		
		                        			Carcinoma, Signet Ring Cell/pathology*
		                        			
		                        		
		                        	
9.Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant.
Li Hui HUANG ; Xue Lei ZHAO ; Xiao Hua CHENG ; Yi Ding YU ; Cheng WEN ; Yue LI ; Xian Lei WANG ; Xue Yuao WANG ; Yu RUAN ; Hui EN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(2):117-125
		                        		
		                        			
		                        			Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.
		                        		
		                        		
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Male
		                        			;
		                        		
		                        			Alleles
		                        			;
		                        		
		                        			Deafness/genetics*
		                        			;
		                        		
		                        			DNA Copy Number Variations
		                        			;
		                        		
		                        			Forkhead Transcription Factors/genetics*
		                        			;
		                        		
		                        			Genotype
		                        			;
		                        		
		                        			Hearing Loss/genetics*
		                        			;
		                        		
		                        			Hearing Loss, Sensorineural/genetics*
		                        			;
		                        		
		                        			Mutation
		                        			;
		                        		
		                        			Phenotype
		                        			;
		                        		
		                        			Sulfate Transporters/genetics*
		                        			;
		                        		
		                        			Vestibular Aqueduct
		                        			;
		                        		
		                        			Infant, Newborn
		                        			;
		                        		
		                        			Potassium Channels, Inwardly Rectifying/genetics*
		                        			
		                        		
		                        	
10.Development of auxiliary early predicting model for human brucellosis using machine learning algorithm.
Wei WANG ; Rui ZHOU ; Chao CHEN ; Xiang FENG ; Wei ZHANG ; Hu Jin LI ; Rong Hua JIN
Chinese Journal of Preventive Medicine 2023;57(10):1601-1607
		                        		
		                        			
		                        			Using machine learning algorithms to construct an early prediction model of brucellosis to improve the diagnosis efficiency of Brucellosis. This study was a case-control study. 2 381 brucellosis patients from Beijing Ditan Hospital affiliated to Capital Medical University were retrospectively collected as case group, and healthy people from Beijing Chaoyang Hospital affiliated to Capital Medical University were collected as control group from May 9, 2011 to November 29, 2021. The relevant clinical information and full blood count results of 13 257 data were collected and five algorithms of machine learning were used to construct an early predication model of brucellosis by using machine learning: random forest, Naive Bayes, decision tree, logistic regression and support vector machine;14 074 data (2 143 cases incase group and 11 931 cases in control group) were used to establish the early predication model of brucellosis, and 1 564 (238 cases in case group and 1 326 cases in control group) data were used to test the predication efficiency of the brucellosis model. The results showed that the support vector machine algorithm has the best predication performance by comparing the five machine learning models. The area under receiver curve (AUC) of receiver operating characteristic (ROC) was 0.991, and the accuracy, precision, specificity and Recall were 95.6%, 95.5%, 95.4% and 95.9%, respectively. Based on the SHAP plot, platelet distribution width (PDW) and basophil relative value (BASO%) results were low, and men with high coefficient of variation (R-CV), erythrocyte hemoglobin concentration (MCHC), and platelet volume (MPV) were predicted to be at high risk of brucellosis. Platelet distribution width (PDW) contributed the most to the prediction model, followed by red blood cell distribution width coefficient of variation (R-CV). In conclusion, the establishment of a high-precision early predication method of brucellosis based on machine learning may be of great significance for the early detection and treatment of brucellosis patients.
		                        		
		                        		
		                        		
		                        			Male
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Retrospective Studies
		                        			;
		                        		
		                        			Case-Control Studies
		                        			;
		                        		
		                        			Bayes Theorem
		                        			;
		                        		
		                        			Algorithms
		                        			;
		                        		
		                        			Machine Learning
		                        			
		                        		
		                        	
            
Result Analysis
Print
Save
E-mail