AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

This paper summarizes Professor WANG Xiuxia's clinical experience in treating hyperprolactinemia using the liver soothing therapy. Professor WANG identifies liver qi stagnation and rebellious chong qi （冲气） as the core pathomechanisms of hyperprolactinemia. Furthermore， liver qi stagnation may transform into fire or lead to pathological changes such as spleen deficiency with phlegm obstruction or kidney deficiency with essence depletion. The treatment strategy centers on soothing the liver， with a modified version of Qinggan Jieyu Decoction （清肝解郁汤） as the base formula. Depending on different syndrome patterns such as liver stagnation transforming into fire， liver stagnation with spleen deficiency， or liver stagnation with kidney deficiency， heat clearing， spleen strengthening， or kidney tonifying herbs are added accordingly. In addition， three paired herb combinations are commonly used for symptom specific treatment， Danggui （Angelica sinensis） with Chuanxiong （Ligusticum chuanxiong）， Zelan （Lycopus lucidus） with Yimucao （Leonurus japonicus） ， and Jiegeng （Platycodon grandiflorus） with Zisu （Perilla frutescens）.

Thermal analysis technology has emerged as a pivotal tool for the identification and quality control of traditional Chinese medicine （TCM） owing to its advantages of high sensitivity and capability for simultaneous multi-parameter detection. The application progress on thermogravimetric analysis （TGA）, differential thermal analysis （DTA）, and differential scanning calorimetry （DSC） in four key areas: authenticity identification of herbal medicines, optimization of processing techniques, evaluation of extract thermal stability, and construction of quality evaluation systems were summarized. Thermal analysis technology enables rapid authentication of medicinal materials by establishing a thermal fingerprint. When integrated with hyphenated techniques （e.g., FTIR and GC-MS）, it facilitates in-depth analysis of compositional differences in complex matrices. In Future, the development of thermal analysis databases and multi-technology integration will be expected to further promote the standardization of TCM quality control.

Objective:To evaluate the effects of electroacupuncture (EA) on the learning and memory function of offspring rats exposed to sevoflurane in late-pregnancy.Methods:Thirty-two SPF healthy Sprague-Dawley pregnant rats at gestational day 18, weighing 260-280 g, were assigned to 4 groups ( n=8 each) using a random number table method: control group (C group), sevoflurane group (Sev group), EA group and sham EA group (SEA group). Sev, SEA and EA groups inhaled 2.5% sevoflurane in 50% oxygen for 6 h. In EA group, Shenting, Baihui, bilateral Quchi, and bilateral Zusanli points were stimulated with an electric stimulator (disperse-dense waves, frequency 2/6 Hz, intensity 1 mA, 20 min per day for 7 consecutive days) starting on postnatal day 21, EA was performed again for 7 days after an interval of 1 day, and the EA treatment lasted for a total of 14 days. Moriss water maze test was performed at 36 days of age to detect the spatial learning and memory function. The offspring rats were sacrificed on postnatal day 42, and the hippocampal tissues were removed for calculation of the dendritic spine density of neurons (after Golgi staining) and for determination of the apoptosis rate (using flow cytometry) and the expression of the two primary forms of brain-derived neurotrophic factor (BDNF), mature (mBDNF) and pro (proBDNF), mBDNF/proBDNF ratio, tropomyosin receptor kinase B (TrkB) and p75 neurotrophin receptor (p75NTR) (by Western blot). The mBDNF/proBDNF ratio was calculated. Results:Compared with C group, the escape latency was significantly prolonged, the time of staying at the target platform quadrant was shortened, the frequency of crossing the original platform was reduced, the dendritic spine density of hippocampal neurons and mBDNF/proBDNF ratio were decreased, the expression of TrkB was down-regulated, and the expression of p75NTR was up-regulated in Sev groups ( P<0.05). Compared with the offspring rats of Sev and SEA groups, the escape latency was significantly shortened, the time of staying at the target platform quadrant was prolonged, the frequency of crossing the original platform was increased, the dendritic spine density of hippocampal neurons and mBDNF/proBDNF ratio were increased, the expression of TrkB was up-regulated, and the expression of p75NTR was down-regulated in the offspring rats of EA group ( P<0.05), and no significant change was found in the aforementioned parameters in the offspring rats of SEA group ( P>0.05). There was no significant difference in the apoptosis rate of hippocampal neurons among the offspring rats of the four groups ( P>0.05). Conclusions:EA can improve the learning and memory function of offspring rats exposed to sevoflurane in late-pregnancy, and the mechanism may be related to promoting the conversion of proBDNF to mBDNF and improving neuronal development.

Cirrhotic portal hypertension (CPH) is a manifestation of decompensated liver cirrhosis, with ascites, portal collateral circulation formation, hypersplenism and splenomegaly as the typical clinical symptoms. In recent years, the incidence of CPH has been increasing year by year, and the treatment of CPH has gradually become a hot issue in medical research. In order to further explore the diagnosis and treatment scheme of CPH. We briefly describe the pathophysiological mechanism and diagnosis of CPH, and the current situation of CPH treatment and the new progress of internal and external treatment were reviewed.

With the reform of the national medical and health system entering a new stage of high-quality development of public hospitals,the large-scale implementation of day surgery in hospitals is imminent in the face of increasing patient demand.In this paper,the medical administration management and medical insurance policies related to day surgery in China and their im-pacts were sorted out,and the example of large-scale implementation of day surgery by a specialized ophthalmic medical institu-tion through pre-hospitalization mode was used to illustrate how to use management tools to break through the bottleneck in the promotion process of day surgery,and the positive effect of large-scale development of day surgery on both doctors and patients was expounded.

Objective:To investigate the endorectal ultrasound findings in rectal neuroendocrine neoplasms (R-NEN) and to compare the diagnostic performance of ERUS and MRI for T staging of R-NENs.Methods:The imaging features of 77 confirmed R-NEN cases with different pathological grades in the Sixth Affiliated Hospital, Sun Yat-sen University from August 2015 to August 2021 were retrospectively analyzed and the abilities of ERUS and MRI for T staging of R-NENs were compared.Results:A total of 77 R-NEN patients underwent preoperative ERUS examinations and detected lesions in 62 patients with a detection rate of 80.52%. Among them, 30 cases underwent simultaneous MRI examinations, and detected lesions in 25 cases with a detection rate of 83.33%, without statistical difference between MRI and ERUS ( P>0.05). R-NEN exhibited hypoechoic nodules with rich blood flow in the submucosa on ERUS. Grade G1 and G2 tumors generally had sizes less than 10 mm, clear boundaries, and regular shapes, while G3 was typically large, irregular, poorly defined, and more likely to invade the musculi propria and serous layer. G3 demonstrated a more profound infiltration level, a less defined border, and a larger diameter than G1 and G2, with statistically significant differences (all P<0.05). For T staging, the accuracy of ERUS was 86.67%, and that of MRI was 94.67%, with no statistical difference ( P>0.05). Conclusions:ERUS is effective for detecting R-NEN lesions and useful for tumor grading with comparable performance to MRI, and should be recommended for preoperative evaluation of neuroendocrine tumors.

Objective: To investigate the efficacy and safety of Liqingtong (LQT) granules in patients with dampness-heat hyperuricemia. Methods: A randomized, double-blind, placebo-controlled pilot trial was conducted at the 983rd Hospital of the Joint Logistic Support Force of the People's Liberation Army from March 15, 2023, to August 10, 2023. In total, 119 participants were enrolled in this trial, and participants were given either LQT granules or placebo for 60 days based on a health education. The primary outcome was serum uric acid (SUA) level, and the secondary outcome was the traditional Chinese medicine (TCM) symptom score, measured on days 0, 30, and 60. Safety indicators, including liver function, kidney function, blood routine, glucose, blood lipid, blood pressure, and heart rate were tested on days 0 and 60 of the trial. The data were analyzed using Prism 9 software, and the significance level was set at P < .05. Results: Among 119 participants, six in the LQT granule group and seven in the placebo group dropped out, and 106 participants completed clinical observation. Baseline information, including SUA levels, TCM symptom scores, and other clinical characteristics, did not differ between the groups. At the end of the trial, compared with baseline values, the SUA levels in the LQT granule group decreased (P < .001), and no significant change was observed in the placebo group (P = .422); compared with the placebo group, the SUA levels decreased in the LQT granule group (P = .001). Compared with baseline values, the total TCM symptom scores in the LQT granule group decreased (P < .001), with no change in the placebo group (P = .136). Safety indicators did not differ significantly between the two groups. Conclusion The pilot trial demonstrated the potential of LQT granules to lower SUA levels and improve symptoms of dampness and heat.

Objective To discuss the correlation of serum visceraladiposetissue-derived serineproteinase inhibitor(vaspin)and atrial fibrosis biochemical markers in atrial fibrillation(AF)patients.Methods The subjects were selected from inpatients in Shanghai Putuo District People's Hospital during January 2021 to October 2022.Enzyme linked immunosorbent assay(ELISA)was used to determine the levels of serum vaspin,C-terminal propeptide of prollagen type Ⅰ(PⅠCP),matrix metalloproteinase-1(MMP-1),N-terminal type Ⅲ collagen peptide(PⅢNP),tissue matrix metalloproteinase inhibitory factor-1(TIMP-1)of paroxysmal atrial fibrillation(PAF)group,persistent atrial fibrillation(PeAF)group,and control group.The correlation between serum vaspin and the above serum biochemical markers was analyzed.Results ①Levels of serum vaspin(9.51±1.47)ng/ml,PⅠCP(704.83±120.45)ng/ml,MMP-1(5.92±0.73)ng/ml,PⅢNP(63.34±12.24)ng/ml,and TIMP-1(7.56±0.90)ng/ml in PeAF group were significantly higher than those of PAF group and control group(P<0.05);②vaspin was significantly and positively correlated with PⅠCP,MMP-1,PⅢNP,TIMP-1 in PAF group and PeAF group.Conclusion Serum vaspin level of AF patients were significantly high and positively correlated with atrial fibrosis biochemical markers,which indicated that serum vaspin level might be closly related to atrial fibrosis in AF patients.It may be a potential marker to identify the degree of fibrosis in atrial fibrillation.