A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in SLCO2A1, c.1658T > A and c.96+4A > C.Through multidisciplinary consultation, we confirmed the diagnosis of pachydermoperiostosis.

Based on the strategy of metabolomics combined with bioinformatics, this study analyzed the potential allergens and mechanism of pseudo-allergic reactions (PARs) induced by the combined use of Reduning injection and penicillin G injection. All animal experiments and welfare are in accordance with the requirements of the First Affiliated Experimental Animal Ethics and Animal Welfare Committee of Henan University of Chinese Medicine (approval number: YFYDW2020002). Based on UPLC-Q-TOF/MS technology combined with UNIFI software, a total of 21 compounds were identified in Reduning and penicillin G mixed injection. Based on molecular docking technology, 10 potential allergens with strong binding activity to MrgprX2 agonist sites were further screened. Metabolomics analysis using UPLC-Q-TOF/MS technology revealed that 34 differential metabolites such as arachidonic acid, phosphatidylcholine, phosphatidylserine, prostaglandins, and leukotrienes were endogenous differential metabolites of PARs caused by combined use of Reduning injection and penicillin G injection. Through the analysis of the "potential allergen-target-endogenous differential metabolite" interaction network, the chlorogenic acids (such as chlorogenic acid, neochlorogenic acid, cryptochlorogenic acid, and isochlorogenic acid A) and β-lactam allergens in the combination of the two may be mainly regulated by PLD1, PLA2G12A and CYP1A1. The three upstream signal target proteins mainly activate the arachidonic acid metabolic pathway, promote the degranulation of mast cells, release downstream endogenous inflammatory mediators, and induce PARs.

OBJECTIVE To explore the renal protective mechanism of Shenbining granules on IgA nephropathy （IgAN） rats based on mitochondrial quality control system. METHODS IgAN rat model was established by the method of “bovine serum albumin+carbon tetrachloride+lipopolysaccharide”. The model rats were randomly divided into model group， prednisone acetate group （6.25 mg/kg）， Shenbining equal-dose group （4.1 g/kg） and Shenbining high-dose group （20.5 g/kg）. The normal rats were taken as the normal control group， with 12 rats in each group. Rats were given corresponding drugs or distilled water intragastrically in each group， once a day， for 4 consecutive weeks. After the last medication， the 24 h total urinary protein （24 h- UTP） and erythrocyte count in urine were determined， and the levels of serum creatinine （Scr）， blood urea nitrogen （BUN）， albumin （ALB） and alanine transaminase （ALT） were also detected. The histopathological changes in the kidneys and changes in IgA deposition in the mesangial area of the kidney were observed. mRNA and protein expression levels of PTEN-induced putative kinase 1 （PINK1）， E3 ubiquitin ligase（Parkin）， microtubule-associated protein 1 light chain-3 （LC3）， dynamin-related protein 1 （Drp1） and mitofusin 2 （Mfn2） were detected in the kidney tissues of rats. RESULTS Compared with model group， 24 h-UTP， urinary erythrocyte count， ALT， BUN and Scr levels， LC3-Ⅱ/LC3-Ⅰ mRNA ratio， mRNA and protein expressions of Drp1 were reduced significantly in prednisone acetate group， Shenbining equal-dose group and Shenbining high-dose group （P＜0.05）； ALB level， LC3-Ⅱ/LC3-Ⅰ protein ratio， mRNA and protein expressions of PINK1， Parkin and Mfn2 were increased significantly （P＜0.05）； the pathological morphology of kidney tissue in rats was significantly improved， and IgA deposition was significantly reduced. CONCLUSIONS Shenbining granule may reduce renal pathological injury in IgAN rats and protect renal function by activating the PINK1/Parkin pathway， enhancing mitochondrial autophagy， and correcting mitochondrial kinetic disorders.

Objective To discuss the safety and efficacy of arterial embolization combined with local ablation in the treatment of recurrent and refractory chest wall tumors.Methods The clinical data of 11 patients with chest wall tumor that recurred after surgery and progressed after treatment were retrospectively analyzed.On the basis of the original treatment regimen,DSA-guided arterial embolization and CT-guided local ablation were employed.VAS score of pain relief and postoperative complications were recorded,and the therapeutic efficacy was evaluated Results All the patients were follow up for a median time of 18.5 months.Successful DSA-guided arterial embolization was accomplished in all patients.Seven patients(9 lesions in total)initially received CT-guided radiofrequency ablation(RFA),and tumor reoccurred in 2 patients,who had to receive RFA once more.Four patients(5 lesions in total)initially received CT-guided microwave ablation(MWA),and tumor reoccurred in one patient,who had to receive MWA again.According to mRECIST criteria,the 6-month,12-month and 18-month objective response rates(ORR)were 72.7%(8/11),45.5%(5/11)and 18.2%(2/11)respectively,the 6-month,12-month and 18-month overall survival rates were 81.8%(9/11),63.6%(7/11)and 27.3%(3/11)respectively,with a median survival time of 13.2 months.The postoperative one-month and 3-month VAS scores were(2.42±1.25)points and(1.91±1.24)points respectively,which were strikingly lower than preoperative(6.78±1.13)points,the differences were statistically significant(P＜0.05).After surgery,3 patients developed pleural effusion,which disappeared after puncture and drainage treatment,and 2 patients developed fever,which was improved after symptomatic treatment.One patient died of respiratory failure six months after treatment.Conclusion Arterial embolization combined with local ablation can improve the symptoms of pain and prolong the survival time of patients with chest wall tumors.This combination therapy is less traumatic and clinically safe,and it can be used as an effective treatment for patients with recurrent and refractory chest wall tumors.

Objective This study aimed to understand the epidemic status and phylogenetic relationships of rotavirus group A(RVA)in the Pearl River Delta region of Guangdong Province,China. Methods This study included individuals aged 28 days-85 years.A total of 706 stool samples from patients with acute gastroenteritis collected between January 2019 and January 2020 were analyzed for 17 causative pathogens,including RVA,using a Gastrointestinal Pathogen Panel,followed by genotyping,virus isolation,and complete sequencing to assess the genetic diversity of RVA. Results The overall RVA infection rate was 14.59%(103/706),with an irregular epidemiological pattern.The proportion of co-infection with RVA and other pathogens was 39.81%(41/103).Acute gastroenteritis is highly prevalent in young children aged 0-1 year,and RVA is the key pathogen circulating in patients 6-10 months of age with diarrhea.G9P[8](58.25%,60/103)was found to be the predominant genotype in the RVA strains,and the 41 RVA-positive strains that were successfully sequenced belonged to three different RVA genotypes in the phylogenetic analysis.Recombination analysis showed that gene reassortment events,selection pressure,codon usage bias,gene polymorphism,and post-translational modifications(PTMs)occurred in the G9P[8]and G3P[8]strains. Conclusion This study provides molecular evidence of RVA prevalence in the Pearl River Delta region of China,further enriching the existing information on its genetics and evolutionary characteristics and suggesting the emergence of genetic diversity.Strengthening the surveillance of genotypic changes and gene reassortment in RVA strains is essential for further research and a better understanding of strain variations for further vaccine development.

Objective:To analyze the epidemiological and clinical characteristics of respiratory syncytial virus (RSV) infection in children in Jiangsu Province from 2014 to 2023.Methods:The acute respiratory infection cases in children aged 0-14 years were selected from outpatient/emergency or inpatient departments in 2 surveillance sentinel hospitals, respectively, in Nanjing, Suzhou and Taizhou of Jiangsu from 1 July 2014 to 31 December 2023, and RSV nucleic acid test was conducted and the intensity of the RSV infection was accessed by WHO influenza epidemiological threshold method, and case information and clinical data were collected. χ2 test was used to compare the differences between groups, and the Bonferroni method was used for pairwise comparisons between groups. Results:In 4 946 cases of acute respiratory infections, the RSV positive rate was 8.21% (406/4 946), and the age M( Q1, Q3) of the cases was 1 (0, 3) years. The RSV positive rate was 10.92% (258/2 362) during 2014-2019 and 6.06% (118/1 948) during 2019-2023, the difference was significant ( χ2=31.74, P<0.001). RSV infection mainly occurred from October to March during 2014-2019, with the incidence peak in December and moderate or higher intensity. The seasonality of RSV infection was not obvious during 2019-2023, with low intensity. The RSV positive rate was highest in children in age group 0- years (17.85%, 151/846), and the positive rate declined gradually with age ( χ2=184.51, P<0.001). The RSV positive rate was higher in inpatient cases (9.84%, 244/2 480) than in outpatient/emergency cases (6.57%, 162/2 466) ( χ2=17.54, P<0.001). In the 155 RSV infection cases with complete clinical data, the clinical symptoms mainly included cough (99.35%, 154/155), fever (55.48%, 86/155), and shortness of breath (45.16%, 70/155). In the cases aged <6 months, the proportion of those with fever was low, but the proportion of those with shortness of breath, transferred to intensive care units, and receiving oxygen therapy were higher (all P<0.05). Children aged <6 months and those with underlying diseases were more likely to have severe RSV infection (all P<0.05). Conclusions:RSV infection in children in Jiangsu Province showed seasonal prevalence in winter from 2014 to 2019. Since 2020, the seasonal characteristics of the epidemic have changed, the epidemic period has been dispersed and the epidemic intensity has decreased. Infants <1 year old were at high risk for RSV infection, and those <6 months old and with underlying diseases might have severe infection.

Objective To investigate the correlation between the methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism and disease in the course of Alzheimer's disease(AD),as well as whether whether it is af-fected by APOE gene.Methods A total of 74 AD patients,85 aMCI patients and 81 healthy controls(HC)were included.The levels of serum homocysteine(Hcy),folate,and vitamin B12,as well as the genotypes of MTHFR C677T and APOE,were determined.Logistic regression analysis was conducted to explore the relationship between MTHFR C677T polymorphism and the risk of AD and aMCI,as well as in different APOE ε4 subgroups.Results Compared with HC group,the serum Hcy levels in AD group and aMCI group were significantly higher(P＜0.001,P＜0.001),while serum folate levels in aMCI group was significantly lower(P=0.017).The serum fo-late level was significantly lower(P=0.038)in individuals with the MTHFR TT genotype compared to those with CC and CT genotypes,while the serum Hcy level was significantly higher(P=0.002).Regression analysis showed that the MTHFR TT genotype might increase the risk of aMCI in the subgroup of APOE e4 non-carriers(OR=3.670,95％CI=1.077-12.509,P=0.038),but not in APOE e4 carriers.Conclusion MTHFR C677T polymorphism plays an important role in Hcy metabolism,which leads to increased serum Hcy levels and decreased folate levels.In APOE ε4 non-carriers,the MTHFR TT genotype may increase the risk of aMCI.

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

Objective:To investigate the diagnosis and strategy of individualized functional rhinoplasty based on the overall evaluation of the nasal cavity as a integration.Methods:A prospective study was carried out in the patients who underwent endoscopic functional rhinoplasty at the Department of Otorhinolaryngology, the First Affiliated Hospital of Chongqing Medical University from February 2018 to August 2021. The overall evaluation of the internal and external structure and function of the nasal cavity was performed before surgery, and the individualized surgical strategies were developed. According to the surgical strategy, nasal septum correction, inferior turbinate ablation, inferior turbinate fracture displacement, inferior turbinate submucous resection, dorsal extended cartilage graft, crooked nose correction, prosthesis or autologous cartilage implantation, hump reduction and osteotomy were performed to adjust the nasal function and aesthetics. Internal nasal valve (INV) angle, INV collapse grade, INV cross-sectional area, and external nasal valve effectiveness (ENVE) index were used to evaluate the structure of nasal valve area. Nasal obstruction symptom assessment (NOSE) scale and nasal resistance [including total nasal resistance (RT), nasal resistance differential ratio (R 1r)] was used to evaluate nasal ventilation function. Facial clinimetric evaluation questionnaire rhinoplasty module (FACE-Q RM), rhinoplasty outcome evaluation (ROE) scale, external nasal subunit measurement was used to evaluate nasal appearance, and self-rating depression scale (SDS) and self-rating anxiety scale (SAS) was used to evaluate psychological status. Finally, the correlation between patient satisfaction and subjective and objective parameters were analyzed. The data before and after operation were compared by paired t-test. Correlation was tested by Pearson analysis. Results:A total of 50 patients were included, including 18 males and 32 females, ranging in age from 23 to 52 years, mean age 35.7 years. All patients had symptoms of nasal congestion, of which 28 cases with crooked nose deformity, 12 cases with nasal valve stenosis, 6 cases with saddle nose deformity, and 4 cases with hump nose. Compared with preoperative, postoperative INV angle was significantly increased, INV collapse grade was decreased, INV cross-sectional area was increased, ENVE index was increased ( P<0.05). After operation, the NOSE score decreased, and nasal resistance showed that RT and R 1r decreased, indicating that nasal congestion symptoms were relieved significantly ( P<0.05). The postoperative FACE-Q RM and ROE scores increased, indicating that patients’ nasal appearance satisfaction increased ( P<0.05), external nasal subunit measurement showed that the upper nasal alar width and lower nasal alar angle were reduced ( P<0.05), the measured value of residual structure has no significant change. Postoperative SDS and SAS scores were significantly lower than preoperative ones, and the difference was statistically significant ( P<0.05).Overall satisfaction was improved( P<0.05). Pearson correlation analysis showed that patient satisfaction was positively correlated with INV angle, INV cross-sectional area, ENVE index, and subjective nasal shape score (FACE-Q RM, ROE), and negatively correlated with INV collapse grade, NOSE score, and nasal resistance measurement, but had no correlation with external nasal subunit measurement. Conclusion:Combined with the overall evaluation of nasal structure, nasal ventilation function and external nasal aesthetics, it is beneficial to develop the diagnosis and treatment strategy of individualized functional rhinoplasty, so as to improve patient satisfaction.

Objective:To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.Methods:A patient who had presented at the Henan Provincial People′s Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected. The patient was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:WES revealed that the patient has harbored compound heterozygous variants of the PMFBP1 gene, namely c. 853del (p.Ala285Leufs*24) and c. 1276A>T (p.Lys426X), which were both unreported previously. Sanger sequencing suggested that the c. 853del (p.Ala285Leufs*24) variant has derived from his deceased mother, whilst the c. 1276A>T (p.Lys426X) variant has derived from his father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The compound heterozygous variants of the PMFBP1 gene probably underlay the Acephalic spermatozoa syndrome in this patient. The discovery of the novel variants has also enriched the mutational spectrum of Acephalic spermatozoa syndrome.