Objective:To observe the clinical features of high myopia domed-shaped macula (DSM) complicated with choroidal neovascularization (CNV) and the efficacy of intravitreal injection of anti-vascular endothelial growth factor (VEGF).Methods:A retrospective clinical study. A total of 23 eyes of 23 patients with high myopia DSM combined with CNV diagnosed by ophthalmology examination in Department of Ophthalmology of The Second People's Hospital of Foshan from January 2019 to December 2023 were included in the study.Best corrected visual acuity (BCVA), intraocular pressure, optical coherence tomography (OCT) were performed in all eyes. BCVA tests are performed using the international standard visual acuity chart, which was statistically converted to logarithm of the minimum angle of resolution (logMAR) visual acuity. DSM height, central macular thickness (CMT) and choroidal thickness (ChT) were measured by OCT. According to OCT image features, DSM was divided into horizontal and vertical elliptic bulges and circular bulges. According to the literature standard, CNV was divided into subfoveal CNV and parafoveal CNV. All patients were treated with 0.05 ml intravitreal injection of ranibizumab or conbercept (IVR or IVC). The treatment regimen was 1+ on-demand treatment. The first IVR and IVC treatment were performed on 17 eyes and 6 eyes, respectively, and were divided into IVR group and IVC group. Follow-up time ≥1 month after treatment. The clinical features of the patients and the changes of BCVA, intraocular pressure, CMT and ChT after treatment were observed. Independent sample t test was used for comparison between groups. Results:There were 23 eyes in 23 cases, 7 males had 7 eyes and 16 females had 16 eyes. There were 11 and 12 eyes in the right and left eyes respectively. Age were (49±16) years old; logMAR BCVA was 0.94±0.39. Shapes of DSM were in 13 (56.52%, 13/23), 6 (26.09%, 6/23), and 4 (17.39%, 4/23) eyes, respectively. The dome height was (97.83±46.14) μm. CMT and ChT were (276.39±98.35) and (49.48±31.66) μm, respectively. There were 17 eyes in the IVR group, including 4 males and 13 females. There were 6 cases in the IVC group, 3 cases were male and 3 cases were female. At the last follow-up, logMAR BCVA and CMT were 0.60±0.39 and (209.96±71.38) μm, respectively. BCVA was significantly increased and CMT was significantly decreased compared with before treatment, with statistical significance ( t=2.98, 2.62; P=0.005, 0.010). One month after treatment and at the last follow-up, there were no significant differences in the degree of BCVA improvement ( t=1.47, 1.35), intraocular pressure change ( t=-0.20, -0.56) and ChT reduction thickness ( t=0.80, -0.62) between IVR group and IVC group ( P>0.05). At 1 month after treatment and last follow-up, the CMT of patients in IVR group and IVC group was decreased by (57.94±67.61), (83.17±78.37) μm and (13.33±9.73), (18.17±17.88) μm compared with that before treatment, respectively, and the differences were statistically significant ( t=2.64, 3.21; P<0.05). Conclusions:IVR or IVC in the treatment of high myopia DSM combined with CNV can effectively improve BCVA. The reduction of CMT with ranibizumab is better than conbercept.

Objective:To investigate the epidemiology of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with maintenance hemodialysis (MHD) in Jiangsu province during SARS-CoV-2 pandemic in China from December 7, 2022 to January 27, 2023, and to analyze the influencing factors of all-cause death.Methods:It was a multi-center cross-sectional investigation. Structured questionnaire was used to collect patient information by medical staff of each hemodialysis center (room) as investigators. Part of the demography data and laboratory examination data came from the Jiangsu Province Hemodialysis Data Information System. MHD patients from hemodialysis centers (rooms) at all levels of medical institutions and independent hemodialysis institutions in Jiangsu province during the outbreak of SARS-CoV-2 infection were included, and the clinical characteristics and all-cause mortality of confirmed and suspected cases of SARS-CoV-2 infection were analyzed.Results:Questionnaire surveys and data analysis on 57 278 patients in 407 hemodialysis centers (rooms) were completed, accounting for 90.41% of the total number of MHD patients (63 357 cases) in Jiangsu province during the same period. There were 24 038 cases (41.97%) of SARS-CoV-2 infection and 14 805 cases (25.85%) of suspected infection, which were widely distributed in all dialysis centers in Jiangsu province. After clinical classification of 38 843 confirmed and suspected SARS-CoV-2 infection cases, 3 662 cases were severe and critical cases, accounting for 9.43% of the infected and suspected cases. Among the patients who had completed the questionnaires, there were 1 812 all-cause deaths, with an all-cause mortality rate of 3.16%. Multivariate logistic regression analysis showed that elderly (taking ≤50 years as a reference, 51-59 years: OR=1.583, 95% CI 1.279-1.933, P=0.001; 60-69 years: OR=3.972, 95% CI 3.271-4.858, P<0.001; 70-79 years: OR=7.236, 95% CI 5.917-8.698, P<0.001; ≥80 years: OR=11.738, 95% CI 9.459-14.663, P<0.001), male ( OR=1.371, 95% CI 1.229-1.529, P<0.001), and co-infection with hepatitis B virus (HBV) (positive serum HBV surface antigen, OR=0.629, 95% CI 0.484-0.817, P<0.001) were independent influencing factors for all cause mortality. Receiver-operating characteristic curve analysis showed that the area under the curve for male, age and current HBV infection prediction of all-cause death was 0.529 ( P<0.001), 0.724 ( P<0.001) and 0.514 ( P=0.042), respectively, and the cut-off value for age prediction of all-cause death was 65.5 years old. Compared with patients without HBV infection, MHD patients with HBV infection significantly reduced the proportion of severe and critically ill patients, all-cause hospitalizations and all cause deaths when infected with SARS-CoV-2 (4.99% vs. 6.41%, χ2=6.136, P=0.013; 8.90% vs. 11.44%, χ2=11.662, P<0.001; 2.01% vs. 3.37%, χ2=10.713, P=0.001, respectively). Conclusion:The MHD patients in Jiangsu province are susceptible to SARS-CoV-2. Elderly age and male gender are independent risk factors for death in MHD patients during the epidemic, while the HBV infection may be a protective factor for death of MHD patients infected with SARS-CoV-2.

[Abstract] Objective: To construct and verify the anti-tumor activity of chimeric antigen receptor (CAR) modified NK-92 cells (CAR-NK-92 cells) targeting prostate stem cell antigen (PSCA) in cervical cancer. Methods: Lentiviral vector expressing CAR targeting PSCA was constructed, and PSCA CAR-NK-92 cells were obtained by lentivirus transfection. The expression of PSCA in human cervical cancer cells was determined by Flow cytometry and Western blotting. The killing effect of PSCA CAR-NK-92 cells against cervical cancer cells was verified by co-incubation of effector and target cells in vitro, and the tumor inhibitory ability of PSCA CAR-NK-92 cells was verified with the nude mice xenograft model in vivo. Results: PSCA CAR-NK-92 cells were successfully constructed. PSCA was highly expressed in human cervical cancer Hela and MS751 cells (all P<0.01). In vitro co-incubation results showed that PSCA CAR-NK-92 cells could lyse PSCA+ cervical cancer transplanted tumor in a dose-dependent manner. In vivo anti-tumor data showed that PSCA CAR-NK-92 cells significantly inhibited the growth of cervical cancer cells compared with NK-92 cells transfected with vehicle vectors (P<0.01). In addition, PSCA CAR-NK-92 cells could effectively infiltrate tumor tissues and promote the secretion of anti-tumor cytokines TNF-α and IFN-γ (all P<0.01). Conclusion: The CAR-NK-92 targeting PSCA shows good anti-tumor effect on PSCA+ tumor cells both in vitro and in vivo, and has potential to be a therapeutic strategy for cervical cancer.

Objective To observe multimodal imaging characteristics in eyes with focal choroidal excavation (FCE) and preliminarily analyze the risk factors in FCE with complications correlated with RPE.Methods A retrospective case series.Thirty-one patients (31 eyes) with monocular FCE,first identified by spectral-domain (SD)-OCT in the Eye Center of The Second People's Hospital of Foshan from December 2014 to December 2018,were involved in this study.There were 14 males and 17 females,with the mean age of 45.84± 13.57 years.All patients underwent BCVA,optometry,and SD-OCT examinations.FFA and ICGA were simultaneously performed in 3 FCE patients with RPE complications.The subfoveal choroidal thickness (SFCT) and excavation width were measured with enhanced depth imaging OCT (EDI-OCT).The eyes with FCE were divided into two groups (FCE alone group 17 eyes vs.FCE complication group 14 eyes),based on whether complicated by RPE dysfunction.Among 14 eyes of FCE complication group,7 (22.6％) with choroidal neovascularization,4 (12.9％) with central serous chorioretinopathy,1 (3.2％) with polypoidal choroidal vasculopathy,and 2 (6.5％) with RPE detachment.No significant difference was found in the mean age (t=0.87),gender composition (x2=0.06),ocular laterality (x2=2.58),and spherical equivalent (t=-0.81) between two groups,respectively (P＞0.05),except that the BCVA was significantly different (t=-2.11,P＜0.05).The SFCT and excavation width of eyes in both groups and the ICGA imaging characteristics of eyes in FCE complication group were analyzed.Risk factors of FCE with RPE complications were analyzed by logistic regression analysis.Results Thirty-three excavations were identified in 31 eyes with FCE.The mean SFCT was 167.00± 85.18 μm in FCE alone group vs.228.36± 67.95 μm in FCE complication group,while the excavation width was 645.00 ± 231.93 μm vs.901.00± 420.55 μm and they were both significantly different (P＜0.05).Logistic regression analysis showed the SFCT (OR=1.016,P=0.026) and excavation width (OR=1.004,P=0.034) were risk factors for RPE complications of FCE.EDI-OCT showed the RPE at the excavation was impaired or vulnerable in all eyes of the FCE alone group,especially at the boundary area of excavation.The RPE damages were located at the boundary area of excavation in 10 eyes (71.4％) of FCE complication group.Constant choroidal hypofluorescence and filling defect were observed under the excavation in 3 eyes with ICGA imaging.Conclusions SFCT and excavation width may be risk factors for RPE complications of FCE.Impairment of RPE at boundary area of excavation and focal choroidal ischemia or aberrant circulation under the excavation may correlate with the development of FCE complications.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

Objective To observe the clinical manifestation and gene mutation of a pedigree with Sorsby fundus dystrophy (SFD).Methods Ten members in 3 generations of a pedigree with SFD were included in this study.Four patients were observed in the pedigree,including 2 females and 2 males.All 10 members underwent comprehensive ophthalmic examinations,including best-corrected visual acuity,intraocular pressure,slit-lamp biomicroscopy,indirect ophthalmoscopy,fundus color photography and spectral domain optical coherence tomography.Genomic DNA was extracted from peripheral venous blood which was collected from all the members.Relevant exons of ocular diseases were detected by the next generation sequencing method from the proband.The other members underwent Sanger verification.Results Among the four patients,fading eyesight was appeared at their 44,46,47 and 40 year-old respectively.The two male patients had bilateral morbidity,and the two female patients had monocular symptoms.DNA sequencing results showed that the proband,other 3 patients and 2 members from the Ⅲ generation had heterozygous mutation of TIMP3 gene in exon 5.The amino acid encoded by TIMP3 gene No.204 codon changed from serine to cysteine (TIMP3:NM_000362:Exon5:c.A610T/p.S204C).Coclusions The invasion time of all the patients in this pedigree is after their 40 year-old.Heterozygous mutation at c.610A＞T (p.S204C) in TIMP3 gene is the causative gene of SFD in this pedigree.

Objective To study the success experience of native arteriovenous fistula (AVF) operation,and provide a new reference range of blood vessel diameter for evaluating the success rate of AVF operation before surgery.Methods To proceed AVF operation to patients with 5 phase of chronic kidney disease,before surgery,patients should receive the vascular ultrasound and cardiac ultrasound to record the diameter of radio artery and cephalic vein along with the radio artery blood flow.Patients were divided into two groups:observation group(cephalic vein diameter< 2 mm)and control group(cephalic vein diameter > 2.0 mm). All those indexes examined before were re-examined 1 month after surgery. Except vessel diameter, the AVF blood flow velocity was also recorded. The range of the mature period was measured, along with the blood flow of each AVF 1 month after its initial use. The blood vessel diameter before surgery,the mature period of AVF and the blood flow on the machine of dialysis 1 month after the initial use were measured to evaluate the operation results of each group. Results In the observation group, 23 of the 25 patients showed the optimistic results. Unfortunately, 1 of the 2 pessimistic results showed the absence of vascular murmur,and the other one died of natural death before its initial use.The mature period of AVF for hemodialysis was(47.29 ± 2.45)d,significantly longer than that of control group (36.00 ± 1.29) d, and there was statistical difference (P<0.01). The blood flow of observation group showed no significant difference compared to that of control group (P > 0.05). Conclusions The patients with cephalic vein diameter<2.0 mm before operation needs a long mature period,but the blood flow after dialysis is not affected,and a good success rate is obtained.

Objective To investigate the relationship between prothrombin fragment 1+2 (F1+2) and peripherally inserted central catheter (PICC) associated thrombosis in cervical cancer patients, and provide certain clinical basis of early prevention in peripherally inserted central catheter associated thrombosis in cervical cancer patients. Methods One hundred and forty cervical patients with PICC were enrolled in this study, and they were divided into thrombosis group (35 patients) and non-thrombosis group (105 patients). The level of F1+2 was examined using enzyme-linked immunoassay, and was analyzed according to the clinic features. Results The level of F1+2 was correlated with clinical stage (r = 0.640, P = 0.004);but was not correlated with age, type of tumor and concurrent radiochemotherapy (P>0.05). The level of F1+2 in thrombosis group was (520.343 ± 121.759) pmol/L, in non- thrombosis group was (388.361 ± 104.873) pmol/L, and there was significant difference (P =0.001). The multi-factors Logistic analysis showed that the level of F1+2 (OR=1.011, P=0.001) and age (OR = 21.025, P = 0.031) were independent risk factors for the PICC associated with thrombosis in cervical cancer. Conclusions The level of F1+2 is closely related with clinical stage and PICC associated thrombosis, and it is an independent risk factor for the PICC associated with thrombosis in cervical cancer.

OBJECTIVETo analyze the karyotypes and SRD5A2 gene mutations in 25 patients with sporadic or familial hypospadias.

METHODSThe patients included 10 adults and 15 children, whose chromosomes were analyzed by G-banded karyotyping, and the SRD5A2 genes were sequenced.

RESULTSTwo patients were found to have an abnormal karyotype, while eight have carried compound heterozygous mutations of the SRD5A2 gene, which included 5 genotypes formed by 6 types of mutations, i.e., p.G203S/p.R227Q, p.R227Q/p.R246Q, p.Q6X/p.Q71X, p.L20P/p.G203S, and p.Q71X/p.R227Q. Mutations of the SRD5A2 gene were present in 32% (8/25) of all patients, 35% (8/23) in those with a normal karyotype, and 44.4% (8/18) in those with proximal type hypospadia. Bioinformatic analysis, literature review and pedigree analysis confirmed that all such mutations are pathogenic.

CONCLUSIONChromosomal anomalies and mutations of the SRD5A2 gene are the main cause of hypospadias. Sequencing of the SRD5A2 gene may explain the etiology of nearly half of the patients with proximal type of hypospadas but a normal karyotype, which can facilitate genetic consulting.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase ; genetics ; metabolism ; Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; Female ; Humans ; Hypospadias ; enzymology ; genetics ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Membrane Proteins ; genetics ; metabolism ; Mutation ; Young Adult

Objective To investigate the application value of extracorporeal extended field radiotherapy in locally advanced cervical cancer. Methods A total of one hundred and twenty patients with stage IIB?IVA cervical cancer in the First Affiliated Hospital of Hebei North University from June 2012 to June 2014 were randomly divided into two groups:the control group and the observation group,each with 60 cases. The routine concurrent chemoradiotherapy was adopted in the control group. The observation group was treated with extracorporeal extended field radiotherapy combined with concurrent chemotherapy. The patients have been followed up for three years. The total efficacy rate,toxicity reaction,local progression free survival time ( PFS) and survival rate of the two groups were compared. Results The total efficacy rate in the observation group was significantly higher than that of the control group ( 88. 3%( 53/60 ) vs. 73. 3%( 44/60 ) , χ2 = 4. 357, P=0. 037),while the incidences of toxicity reaction in the two groups were 18. 3%(11/60) and 16. 7%(10/60), the difference was not statistically significant (χ2=0. 058,P=0. 810) ,the percentages of I and II degree in the two groups were 3. 4%( 2/60 ) and 3. 4%( 2/60 ) , the difference between the two groups was not statistically significant (Z=0. 000,P=1. 000). The PFS value in the observation group was significantly longer than that of the control group ( 25. 6 months vs. 13. 8 months,χ2 = 25. 624, P= 0. 000 ) , and the survival rate in the observation group improved significantly ( 53. 3%( 32/60 ) vs. 33. 3%( 20/60 ) , the difference was statistically significant (χ2 = 4. 887, P= 0. 027 ) . Conclusion Extracorporeal extended field radiotherapy is safe and effective in the treatment of locally advanced cervical cancer.