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 observe the characteristics of back scraping skin symptoms in sub-health people through diagnostic scraping, and explore the characteristics of back scraping skin symptoms in sub-health people with different constitutions.Methods:By adopting a cross-sectional study method, the Third Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine recruited volunteers through a combination of offline and online methods from March 2021 to September 2022. Totally 2 239 sub-health people were treated for TCM constitution identification and were diagnostic scraped with Wentong scraping cup. The differences of back scraping skin symptoms in the color, speed, amount, shape, nature of pain and feeling characteristics under scraping board were compared between sub-health people with different TCM constitutions and gentle constitution.Results:There were differences in the characteristics of Sha Xiang among sub-health individuals with different constitutions. Among them, 49.02% (351/716) of individuals with a gentle constitution had a bright red color, 90.64% (649/716) had a fast rate of appearance, 5.73% (41/716) had a large amount of sha, 3.35% (24/716) had a patchy shape, 3.35% (24/716) felt a stabbing pain, and 0 felt nodules under the scraping plate. Among individuals with a damp-heat constitution, 86.72% (457/527) had a bright red color, 95.64% (504/527) had a fast rate of appearance, 100.00% (527/527) had a large amount of sha, 88.80% (468/527) had a patchy shape, 95.64% (504/527) felt a stabbing pain and 97.72% (515/527) felt nodules under the scraping plate. There was a statistically significant difference between the two groups ( χ2 values were 11.27 to 1 243.00, all P<0.05). Conclusions:The characteristics of back scraping skin symptoms of sub-health people with different constitutions are different. It is expected that the type of TCM constitution of sub-health people can be judged according to the characteristics of scraping skin symptoms in the future, in order to guide patients in health management and improve their satisfaction with traditional Chinese medicine scraping treatment.

OBJECTIVE: To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation. METHODS: For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase RESULTS: For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele. CONCLUSION FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pregnancy ; Prenatal Diagnosis

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.

Objective: To analyze genetic variant in a pedigree affected with congenital high myopia. Methods: Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis. Results: WES has identified a novel splice site heterozygous variant (c.2556+ 1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+ 1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+ PM2). Conclusion A novel splice variant (c.2556+ 1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.

OBJECTIVE: To analyze genetic variant in a pedigree affected with congenital high myopia. METHODS: Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis. RESULTS: WES has identified a novel splice site heterozygous variant (c.2556+1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+PM2). CONCLUSION A novel splice variant (c.2556+1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
Collagen Type XI ; genetics ; Genetic Testing ; Heterozygote ; Humans ; Myopia ; genetics ; Pedigree ; Whole Exome Sequencing

Objective To evaluate the effect of fast-track surgery on perioperative nursing care for patients with abdominal surgery. Methods Using FTS and perioperative nursing as keywords, relevant literature was retrieved from the CNKI, Wanfang Med, Cochrane Library and PubMed databases. Articles including patients who underwent abdominal surgery as the research subjects were screened and analyzed with RevMan 5.3. Results Seven articles were included, covering 288 experimental cases and 290 control cases. Patients with FTS nursing had a higher satisfaction with nursing(P<0.05), shorter postoperative hospital stay(Z=6.71,P<0.05), shorter postoperative anal exhaust time(Z=9.08,P<0.05), and lower incidence of postoperative incision infection(Z=2.65,P=0.05),Hospitalization costs were also reduced(Z=11.75,P<0.05). The incidence of complications, including postoperative abdominal infection, anastomotic fistula, intestinal obstruction, and lower extremity deep vein thrombosis, did not increase. Conclusions FTS nursing can improve the satisfaction of patients with abdominal surgery and reduce their hospitalization expenses and recovery time these results indicate that FTS is a safe and feasible nursing measure.

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.

To study the characteristics and stability of new S(-) pantoprazole sodium hydrates.The X-ray single crystal diffractometer (SXRD), X-ray powder diffractometer (PXRD), thermogravimetric analysis (TG) and infrared spectrometry (IR) were used to characterize S(-) pantoprazole sodium hydrates. The stability of the hydrates was evaluated by high temperature test,affecting factors test and accelerated test.The crystalline water in S(-) pantoprazole sodium hydrates were very easy to lose and obtain, but crystal structure was not changed significantly. The transition from S(-) pantoprazole sodium trihydrate to S(-) pantoprazole sodium hemipentahydrate occurred at approximately 40 ℃ and reversible transitions from hemipentahydrate to trihydrate occurred at high humidity. Two hydrates had no significant difference in accelerated test.The crystal structure of the two hydrates are almost the same, hemipentahydrate is more stable than trihydrates at high temperature or at exposure to light(at 4500 ± 500 lx).

In order to improve the drug's solubility, dissolution and bioavailability, RG-β-CD, RG-γ-CD and RG-Hp-β-CD were prepared by co-crystallization between Regorafenib (RG) and β-cyclodextrin (β-CD), γ-cyclodextrin (γ-CD) and Hydroxypropyl-β-cyclodextrin (Hp-β-CD).Three inclusion complexes were prepared by recrystallization and solvent evaporation methods and characterized by fourier transform infrared spectroscopy (FT-IR), thermal analysis (TG), differential scanning calorimetry (DSC), powder X-ray diffraction (PXRD),H nuclear magnetic resonance (H-NMR), nuclear overhauser effect spectroscopy (NOESY).experiments, tumor suppression assay were made with SW620 colon cancer cell.The ability of solubility and dissolution were improved after inclusion with three kinds of cyclodextrins. The regorafenib-β-cyclodextrin inclusionis proved to have the best stability. The less enhanced was regorafenib-γ-cycl-odextrin inclusion. The best dissolution of regorafenib-β-cyclodextrin inclusion complex was to bring as the tumor suppression assay, the result shows that regorafenib inclusion with β-cyclodextrin is better than regorafenib itself.The bioavailability of regorafenib by inclusion with cyclodextrin can enhance due to the solubility enhancement of RG, which can provide an effective method for improving solubility and dissolution of insoluble drug in clinical medication.