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）.

Increasing evidence shows that the early lesions of Parkinson's disease (PD) originate from gut, and correction of microbiota dysbiosis is a promising therapy for PD. FLZ is a neuroprotective agent on PD, which has been validated capable of alleviating microbiota dysbiosis in PD mice. However, the detailed mechanisms still need elucidated. Through metabolomics and 16S rRNA analysis, we identified glycoursodeoxycholic acid (GUDCA) was the most affected differential microbial metabolite by FLZ treatment, which was specially and negatively regulated by Clostridium innocuum, a differential microbiota with the strongest correlation to GUDCA production, through inhibiting bile salt hydrolase (BSH) enzyme. The protection of GUDCA on colon and brain were also clarified in PD models, showing that it could activate Nrf2 pathway, further validating that FLZ protected dopaminergic neurons through promoting GUDCA production. Our study uncovered that FLZ improved PD through microbiota-gut-brain axis, and also gave insights into modulation of microbial metabolites may serve as an important strategy for treating PD.

Although enteric glial cell (EGC) abnormal activation is reported to be involved in the pathogenesis of Parkinson's disease (PD), and inhibition of EGC gliosis alleviated gut and dopaminergic neuronal dysfunction was verified in our previous study, the potential role of gut microbiota on EGC function in PD still need to be addressed. In the present study, fecal microbiota transplantation revealed that EGC function was regulated by gut microbiota. By employing 16S rRNA and metabolomic analysis, we identified that 3-indolepropionic acid (IPA) was the most affected differential microbial metabolite that regulated EGC gliosis. The protective effects of IPA on PD were validated in rotenone-stimulated EGCs and rotenone (30 mg/kg i.g. for 4 weeks)-induced PD mice, as indicated by decreased inflammation, improved intestinal and brain barrier as well as dopaminergic neuronal function. Mechanistic study showed that IPA targeted pregnane X receptor (PXR) in EGCs, and inhibition of IL-13Rα1 involved cytokine-cytokine receptor interaction pathway, leading to inactivation of downstream JAK1-STAT6 pathway. Our data not only provided evidence that EGC gliosis was critical in spreading intestinal damage to brain, but also highlighted the potential role of microbial metabolite IPA in alleviating PD pathological damages through gut-brain axis.

[This corrects the article DOI: 10.1016/j.apsb.2025.02.029.].

Objective: To investigate the potential efficacy and safety of Lutai Danshen Baishao granules (LDBG) for treating female melasma associated with kidney deficiency and blood stasis patterns. Methods: A randomized, double-blind, placebo-controlled trial was conducted at the Third Central Hospital of Tianjin, China from March to December 2023. A total of 110 female patients with melasma linked to kidney deficiency and blood stasis were enrolled and treated with either LDBG or a placebo twice daily for 60 days. Efficacy was assessed through measures such as the total melasma area, reduced melasma area, reduction rate of melasma area, melasma color score, Melasma Area and Severity Index (MASI) score, and traditional Chinese medicine (TCM) symptom score scale. Safety assessments included routine blood and biochemical tests. Results: Participants in both groups were aged 52–63 years, with no significant differences. After the 2-month intervention, the total melasma area decreased in both groups; however, a greater reduction was observed in the test group [462.50 mm2 (12.81%) vs. 100.00 mm2 (3.11%), P < .001]. Moreover, LDBG treatment significantly reduced the MASI and melasma color scores in the test group (P < .05). The total TCM symptom evaluation score significantly decreased (test group: 6.00 vs. placebo group: 7.00, P = .001), with significant relief in symptoms such as improvement in dark lips, nails, and waist soreness in the test group, compared with that in the placebo group (P < .05). Within-group comparisons revealed that TCM syndrome was significantly alleviated in the test group (P < .05). Conclusion LDBG intervention shows promising effectiveness in reducing female melasma and alleviating TCM syndromes.

Objective To investigate the effect of Angelica polysaccharide(APS)on the differentiation and function of M2 macrophages and underlying molecular mechanism.Methods Mouse bone marrow derived macrophages(BMDM)and M2 macrophages were induced and treated with APS(0,80,160,320 μg/mL);Mouse peritoneal macrophages were isolated and treated with APS(0,160 μg/mL).Flow cytometry(FCM)was used to detect mannose receptor(MR),CD11b,F4/80,CD163,and ARG-1 expression levels,apoptosis,and phagocytic ability of M2 macrophages and peritoneal macrophages.Mice were randomly divided into APS gavage group and control group,APS was intragastrically administered to mice,and macrophage MR expression level in blood and spleen were detected by FCM.Fluorescence microscopy was used to observe the morphology of BMDM-differentiated M2 macrophages.RT-qPCR was employed to detect the mRNA expression levels of MR and ARG-1 in M2 macrophages.Immunofluorescence assay was performed to detect the expression of the proteins related to molecular mechanism of differentiation and function of M2 macrophages.Results Compared with the 0 μg/mL APS group,the MR expression level in the M2 macrophages was decreased with the increase of APS concentration within a certain concentration range(80～320 μg/mL),and the MR expression level in peritoneal macrophages was also decreased in the 160 μg/mL APS treatment group(P＜0.01).The expression level of macrophage MR was also significantly decreased in peripheral blood and spleen in the APS gavage mice than the control group(P＜0.05).Compared with the 0 μg/mL APS group,the expression levels of CD11b,F4/80,and CD163 in the macrophages were increased in the 80～320 μg/mL APS treatment groups(P＜0.01).The morphology of macrophage had changed,from mostly spindle-shaped and pseudopodia to mostly round or irregular,and even a few cells with pseudopodia.APS induced apoptosis in M2 macrophages(P＜0.05).Compared with the 0 μg/mL APS group,M2 macrophages treated with 160 μg/mL APS had an increased ability to phagocytose fluorescent microspheres(P＜0.01),but the expression level of ARG-1 was decreased(P＜0.01).The mRNA expression of MR and ARG-1 in M2 macrophages was decreased(P＜0.05).The mean fluorescence intensity of phosphate acidified-signal transducers and activators of transcription 6(p-STAT6)-positive signals in M2 macrophages was significantly reduced in the 160 μg/mL APS-treated group(P＜0.05).Conclusion APS has bidirectional regulation on the differentiation and function of M2 macrophages,which may be associated with its downregulation of signal transducers and activators of transcription 6(STAT6)signaling pathway.

The sternum is the pivotal component of the thoracic cavity. It is connected with the clavicle and ribs on the upper part and both sides respectively, and plays an important role in protecting the stability of the chest wall. Sternal resection usually results in a large segmental chest wall defect that causes the chest wall to float and requires sternal reconstruction. This paper reports a 62 years male patient with thymic squamous cell carcinoma with sternal metastasis, who underwent thymotomy, sternal tumor resection and autologous lilum graft combined with sternal reconstruction by titanium plate after relevant examination was completed and surgical contraindications were eliminated. The patient was followed up for 6 months, the respiratory and motor functions were normal and the thoracic appearance was good.

Objective To explore the expression and clinical significance of tissue inhibitor of matrix metal-loproteinases(TIMP)-1 and pentraxin-3(PTX3)in the serum of patients with obstructive sleep apnea-hypop-nea syndrome(OSAHS).Methods A total of 120 patients with OSAHS admitted to the hospital from 2021 to 2022 were selected as the study group,and another 114 healthy people who underwent the physical exami-nation in the same period were selected as the control group.The severity of OSAHS was determined accord-ing to the apnea-hypopnea index(AHI)and the minimum oxygen saturation(LSpO2),and the patients were divided into mild group(66 cases)and the moderate-severe group(54 cases).Serum TIMP-1 and PTX3 levels were measured by enzyme-linked immunosorbent assay.Pearson method was used to analyze the correlation between serum TIMP-1,PTX3 and AHI,LSpO2.Receiver operating characteristic(ROC)curve was used to analyze the predictive value of serum TIMP-1 and PTX3 on the severity of disease in patients with OSAHS.Logistic regression was used to analyze the factors influencing the severity of the disease in OSAHS patients.Results Serum TIMP-1,PTX3 and AHI levels in the study group were higher than those in the control group,and LSpO2 level was lower than that in the control group(P<0.05).The body mass index(BMI),the proportion of hypertension history,the proportion of coronary heart disease history,the levels of total choles-terol,triglycerides,low-density lipoprotein cholesterol,TIMP-1,PTX3 and AHI in the moderate-severe group were significantly higher than those in the mild group,and the high density lipoprotein cholesterol,LSpO2 lev-el was significantly lower than that in the mild group(P<0.05).Pearson method results showed that serum TIMP-1,PTX3 levels were positively correlated with AHI(r=0.428,0.392,P<0.05),and serum TIMP-1,PTX3 levels were negatively correlated with LSpO2(r=-0.645,-5.836,P<0.05).The results of the ROC curve showed that the area under the curve(AUC)of serum TIMP-1 and PTX3 alone predicted the severity of the patients'disease was 0.813 and 0.777,with cut-off values were 2.47 μg/L and 7.23 ng/L,with the sensi-tivity of 70.37%and 77.78%and the specificity of 77.27%and 72.23%,respectively.The AUC for predic-ting the severity of patients'disease by combining the two was 0.866,which was significantly higher than those of serum TIMP-1(Z=2.067,P=0.039)and PTX3 alone(Z=2.331,P=0.020).Logistic regression a-nalysis showed that TIMP-1,PTX3,history of hypertension,and history of coronary artery disease,AHI and LSpO2 were influential factors for severity of disease in patients with OSAHS(P<0.05).Conclusion TIMP-1 and PTX3 are both up-regulated in the serum of OSAHS patients and closely related to the severity of the disease,and they are the influential factors in the severity of OSAHS patients.