Retinitis pigmentosa (RP),one of the common forms of hereditary retinal dystrophies (HRD),is typified by significant genetic heterogeneities.Executed by the spliceosome,precursor mRNA (pre-mRNA) splicing is a highly regulated process by which introns are removed and exons are ligated together.To date,more than 80 genes have been involved in RP etiology.Specially,8 of these genes (PRPF3,PRPF8,PRPF31,PRPF6,PRPF4,SNRNP200,RP9 and DHX38) encode proteins essential for pre-mRNA splicing and are expressed ubiquitously.However,mutations of these RP causative pre-mRNA splicing genes exclusively result in only retinal phenotypes,and the mechanism remains unknown.In this review,we recapitulate splicing process,summarize the mutations identified in pre-mRNA splicing genes related to RP and discuss conceivable hypothesis explaining for the consequent retinaspecific phenotypes.

Objective To study the value of iron metabolism indicatorsin thalassemia .Methods 218 cases of thalassemia ,57 ca‐ses of iron deficiency anemia (IDA) children and 70 healthy children(control group) were enrolled in the study ,and serum iron (SI) ,total iron binding capacity(TIBC) ,transferrin(Tf) ,serum ferritin (SF) were detected for them .Results β‐thalassemia double heterozygous(β0 ) or homozygous group :SI levels were significantly higher than the other groups(P<0 .05) ,while TIBC ,Tf levels were significantly lower than the other groups(P<0 .05);α‐thalassemia group (static α‐thalassemia ,standard α‐thalassemia):SI , TIBC levels compared with control group showed no significant difference(P>0 .05) ,but Tf level was higher than control group(P<0 .05);hemoglobin H disease group:when TIBC ,Tf levels compared with the control group ,the difference was statistically signif‐icant(P<0 .05) ,when SI compared with the control group ,the difference was not statistically significant(P>0 .05) .Conclusion Compared with Tf ,SI and TIBC are better indicators for monitoring iron loading in children with thalassemia .The increased SI level and decreased TIBC level are two indicators for the diagnosis of β0 thalassemia in children with cellule anaemia .

Objective To investigate the relationship between leptin receptor(LEPR) gene Gln223Arg in polymorphism and serum leptin level of patients with asthma.Methods A case-control study was conducted.One hundred and ninety-two asthma patients were recruited from asthma gene library,among them 100 patients only with asthma(asthma group) and 92 patients with both asthma and metabolic syndrome(asthma complicated with metabolic syndrome group).And 108 normal people were selected as control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of LEPR gene Gln223Arg locus.Serum leptin levels were measured by enzyme-linked immuno sorbent assay,its relationship with asthma was analyze.Results The frequencies of genotype GG,GA,AA in asthma group,asthma complicated with metabolic syndrome group and normal control group were (83.00％ (83/100) vs.83.70％ (77/92) vs.70.37％ (76/108),15.00％ (15/100) vs.15.22％ (14/92) vs.27.78％ (30/108),and2.00％ (2/100) vs.1.08％ (1/92) vs.1.85％ (2/108) respectively).G and A alleles in asthma group,asthma complicated with metabolic syndrome group and normal control group were 90.50％ vs.91.30％vs.84.26％,9.50％ vs.8.70％ vs.15.74％ respectively.Compared with the control group,GG genotype and GA + AA genotype were different between in asthma group and asthma complicated with metabolic syndrome group.The patients with GG genotype showed 2.056 (x2 =4.599,P =0.032,OR =2.056,95％ CI =1.057-3.999) and 2.161 folds (x2 =4.907,P =0.027,OR =2.161,95 ％ CI =1.084-4.311) risk in asthma group and asthma complicated with metabolic syndrome group than that with GA + AA genotype.In terms of leptin levels,in asthma group,female were significant higher than that of control group (P =0.037,P =2.93),while in asthma complicated with metabolic syndrome group,male and female were significantly higher than control group (P =0.001,0.000 ; P =4.530,4.690).Conclusion The polymorphisms of LEPR gene locus Gln223 Arg are related with asthma.Genotype GG carrier is susceptible for the disease.In female,serum leptin is positive relationship with asthma group,especially in asthma complicated with metabolic syndrome.

Objective To investigate the infection of 23 kinds of human papillomavirus ( HPV) subtypes in female cervical epithelium samples and to analyze their relationships with age and results of cyto-logic test in Haikou area. Methods A total of 4 037 local healthy women were enrolled in this study from July 2013 to August 2016, 1 967 of whom received cervical cytology test. Cervical cell samples collected from those women were detected for HPV typing by using PCR-reverse dot blot hybridization. Results (1) The total positive rate of HPV in 4 037 samples was 22. 15% (894 cases), and the detection rates of carci-nogenic, possibly carcinogenic and non-carcinogenic HPV were 16. 13%, 3. 99% and 5. 55% (651, 161 and 224 cases), respectively. The positive rates of 6 genotypes were high, which were HPV52, 53, 81, 51, 16 and 58 in turn. (2) The detection rates of carcinogenic, possibly carcinogenic HPV and some of the gen-otypes (HPV18, 52, 53, 66) increased with age (all P<0. 05). (3) Multiple infection in HPV-positive women accounted for 24. 38% (218/894), in which the infection rates of carcinogenic types declined with age and the numbers of HPV genotypes in carcinogenic infections were negatively correlated with age ( both P<0. 05). (4) Only 2. 49% (49/1 967) of the samples were positive for cervical cytologic test, classified into the ≥ASC-US ( atypical squamous cells of undetermined significance ) group. The detection rates of eight kinds of carcinogenic and two kinds of possibly carcinogenic HPV in≥ASC-US group were significantly higher than those in the negative (no intraepithelial lesion or malignant lesion, NILM) group (all P<0. 05). Conclusion This study indicates that Haikou women have higher rates of HPV infection, especially the eld-erly group. HPV subtype infections present some regional characteristics and are mainly single type infec-tion. Cervical cancer screening should be combined with tests for HPV and cytology analysis to improve its effectiveness.

Objective To explore the association between inflammatory cytokines and islet β-cell function in chronic persistent asthma patients. Methods 112 adults with persistent asthma and 60 healthy volunteers were enrolled in this study. According to the severity of disease, all subjects were divided into persistent-mild group and persistent-moderate group. Plasma tumor necrosis factor-α(TNF-α), interleukin6(IL-6) and C-reactive protein (CRP) were determined. Oral glucose tolerance and insulin releasing test were performed. The ratio of the area under the curve of insulin to area under the curve of glucose ( AUC1/AUCG ), homeostasis model assessment for insulin resistance ( HOMA-IR), insulin sensitivity index( ISI),homeostasis model assessment for β-cell function (HBCI) and early insulin secretion index(△I30/△G30)were calculated. The values of forced expiratory volume in l second ( FEV1 ), forced vital capacity(FVC)and FEV1/FVC were recorded. Results In patient groups, the values for plasma TNF-α, IL-6, CRP,AUC1, AUC1/AUCG, HOMA-IR, HBCI significantly increased compared with those in control group, while ISI declined ( t =2. 02～13.62, P ＜0. 05). Multiple step regression analysis showed that HOMA-IR was positively correlated with CRP, LDL-C, BMI, AUC1, TNF-α( P ＜0. 01 orP ＜0. 05), but negatively correlated with FEV1 ( P ＜ 0. 05 ). Conclusion The results indicated that inflammatory cytokines ( TNF-α,IL-6,CRP) might result in insulin resistance in asthma patients who had hyperinsulinism at the same time.

Objective To investigate the change in body weight over time in rectal cancer patients receiving radiotherapy and the correlation between setup errors and weight loss,and to establish the image-guided radiotherapy regimens in different periods of treatment.Methods A total of 24 postoperative patients with rectal cancer admitted to our hospital in 2016 were selected.Before each fraction of radiotherapy,the body weight was recorded,and the patients underwent cone-beam computed tomography (CBCT) with different frequencies in every week.The planning CT was matched with CBCT to obtain setup errors.The paired t test was used for difference analysis;the Pearson method was used to analyze the correlation between setup errors and weight loss.Results Body weight was measured 456 times in the 24 patients,and these patients underwent CBCT scans and image registration 456 times.Two patients were excluded because of treatment discontinuance.In the first and second weeks,there was no significant change in body weight.In the third week,the mean weight loss was 1.53 kg.In the fourth week,the mean weight loss was 2.48 kg.In the fifth week,the mean weight loss was 3.24 kg.The setup errors obtained by CBCT image registration in the superior-inferior (SI),anterior-posterior (AP),and left-right (LR) directions were 0.19 cm,0.20 cm,and 0.18 cm,respectively,in the first week,0.18 cm,0.17 cm,and 0.15 cm,respectively,in the second week,0.20 cm,0.22 cm,and 0.21 cm,respectively,in the third week,0.19 cm,0.25 cm,0.24 cm,respectively,in the fourth week,and 0.34 cm,0.33 cm,and 0.31 cm,respectively,in the fifth week.The Pearson correlation analysis showed that weight loss increased the setup errors,with P values of 0.140,0.046,and 0.044 in the SI,AP,and LR directions,respectively.Conclusions For rectal cancer patients receiving radiotherapy,the body weight decreases significantly in the late period (especially in the fifth week),which influences the setup errors.Therefore,in the fourth and fifth weeks of radiotherapy for rectal cancer,the weight loss should be closely monitored,and the number of CBCT scans can be increased before the treatment fraction to ensure the accuracy and optimization of treatment.

Purpose/Significance To understand the fragmented reading behavior of the core user group of hospital libraries,and to propose countermeasures to improve the reading service.Method/Process The fragmented reading behavior data of 3 user groups(doc-tors,nurses,and medical technicians)in Children's Hospital of Soochow University are collected through the questionnaire method,and the characteristics of fragmented reading behavior of each group of users are analyzed.Result/Conclusion Fragmented reading has be-come an important informal learning approach for core users of hospital libraries.Users with different positions,titles and educational backgrounds have different fragmented reading behaviors.Hospital libraries can improve the level of fragmented reading service by provi-ding diversified reading services,promoting the learning type fragmented reading platforms,integrating collection resources and optimizing the overall spatial layout.

The distal radioulnar joint (DRUJ) is one of the most important joints connecting hand and forearm,playing an important role in maintaining normal rotation of the hand and forearm and stability of the wrist.Serious DRUJ dislocation can lead to functional limitation of the forearm and wrist.DRUJ displacement is not uncommon clinically,but often missed.It is usually associated with a distal radioulnar fracture,with an incidence ranging from 10％ to 19％.Without correct and effective diagnosis and treatment,it will lead to chronic pain,dysfunction and other complications.There are various treatments for DRUJ displacement,like initiative splint fixation,percutaneous fixation with kirschner wire,soft tissue reconstruction,joint fusion and joint replacement at the end-stage,and arthroscopic techniques as well which are increasingly popular in recent years.All these treatments ease the patients' pain to a certain extent,but also bring about complications of different severities.Currently,reconstruction of the DRUJ stability using elastic suspension system may be a new treatment alternative in the future because it has gradually attracted the attention from experts.

Objective: To identify Xanthii Fructus and secure its quality and safety in medication. Methods: Total ge-nomic DNA was extracted from Xanthii Fructus and its adulterants. ITS2 sequences were amplified, and purified PCR products were sequenced. Sequence assembly and consensus sequence generation were performed using the CodonCode Aligner V 4.2. The Kimura 2-Parameter (K2P) distances were calculated using MEGA 5.0. The neigh-bor-joining (NJ) phylogenetic trees were constructed. Results: The intraspecific genetic distances of Xanthii Fructus were 0. The interspecific genetic distances between Xanthii Fructus and its adulterants were ranged from 0.009 to 0.542. The NJ tree showed that Xanthii Fructus could differ from its adulterants obviously. Conclusion: ITS2 can be used to identify Xanthii Fructus from its adulterants effectively, and our study further confirmed the effectiveness of ITS2 to identify traditional Chinese medicinal materials.

Objective To analyze the epidemiological characteristics of occupational hand-arm vibration disease (OHAVD) in Guangdong Province from 2006 to 2022. Methods The data of newly reported OHAVD cases and suspected occupational disease cases in Guangdong Province from 2006 to 2022 was collected from the Report Card of Occupational Diseases and Report Card of Suspected Occupational Diseases using Occupational Diseases and Health Hazard Factors Monitoring Information System under China Disease Prevention and Control Information System. Epidemiological characteristics of the newly reported OHAVD cases and related suspected occupational disease reports were analyzed. Results A total of 660 newly reported OHAVD cases were reported in Guangdong Province from 2006 to 2022. The number of cases showed a periodic fluctuating trend over the years. Males accounted for 98.64% of the newly reported OHAVD cases with a median age of 38 years and a median hand-transmitted vibration exposure period of 8.7 years. These cases were predominantly distributed in the Pearl River Delta region, including Zhongshan City, Dongguan City, Guangzhou City, Shenzhen City and Foshan City, accounting for 99.25%. The manufacturing enterprises had 98.79% of the cases, investment enterprises of Hong Kong, Macao and Taiwan merchants of China had 83.18% of the cases, and large- and medium-sized enterprises had 92.73% of the cases. The 660 cases were distributed in 440 enterprises, but there were some characteristics of group outbreaks. There were 20 enterprises (4.55% of the total number of enterprises) had more than three cases involving 219 cases (33.18%). There were five enterprises which had more than 10 cases and the cases number ranged from 12 to 56. Among 382 newly reported OHAVD cases from 2014 to 2022, 44.24% were identified as suspected occupational diseases before diagnosis, of which 59.76% (101/169) were determined by occupational health inspection institutions. Conclusion Newly reported OHAVD cases in Guangdong Province were aggregated in terms of regional distribution, industry, enterprise ownership, and enterprise scale, with a risk of group outbreaks. It is suggested to enhance the OHAVD prevention and control in male workers exposed to hand-transmitted vibrations in the Pearl River Delta's manufacturing enterprises.