OBJECTIVES: To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders. METHODS: Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH). RESULTS: Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge. CONCLUSIONS ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.
Humans ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Child ; Male ; Child, Preschool ; Female ; Infant ; Adolescent ; Dwarfism/genetics* ; Achondroplasia/genetics* ; Lordosis/genetics* ; Infant, Newborn ; Retrospective Studies ; Genetic Association Studies ; Bone and Bones/abnormalities* ; Phenotype ; Limb Deformities, Congenital

OBJECTIVE: To investigate the influencing factors of pathological positive surgical margins (PSM) after radical resection of prostate cancer. METHODS: The clinical data of 407 patients who underwent radical resection of prostate cancer in our hospital from 2011 to 2020 were retrospectively analyzed. And the patients were divided into two groups according to postoperative pathological results. Single factor analysis was used to evaluate the differences in postoperative Gleason score, preoperative total prostate-specific antigen (tPSA), preoperative serum free prostate-specific antigen to preoperative tPSA ratio (fPSA/ tPSA), clinical stage, postoperative pathological stage, operation method, age, body mass index (BMI), diameter and volume of prostate tumor. Multivariate logistic regression was used to determine the independent risk factor of PSM. RESULTS: Among 407 patients with prostate cancer, 179 cases (43.98%) were positive. Univariate analysis showed that there were significant differences in postoperative Gleason score, preoperative tPSA, clinical stage and postoperative pathological stage between the two groups (P<0.05). And Gleason score, preoperative tPSA and pathologic stage were independent risk factors for PSM. CONCLUSION There are relationships between PSM and postoperative Gleason score, tPSA, clinical T stage, postoperative pathologic pT stage. Among them, postoperative Gleason score (Gleason=7 points, Gleason≥8 points), preoperative total prostate-specific antigen (tPSA > 20 μg/L), and postoperative pathologic pT stage (pT3a, pT3b) were independent risk factors for positive pathological margins of prostate cancer.
Margins of Excision ; Prostatic Neoplasms/surgery* ; Prostatectomy/statistics & numerical data* ; Prostate/surgery* ; Retrospective Studies ; Neoplasm Grading/statistics & numerical data* ; Prostate-Specific Antigen/blood* ; Neoplasm Staging/statistics & numerical data* ; Postoperative Period ; Risk Factors ; Humans ; Male

OBJECTIVE To analyze the chemical constituents and components absorbed into plasma of the extract of Ardisia crenata and to elucidate its possible pharmacodynamic material basis. METHODS Overall， 12 rats were randomly assigned to the blank group （n＝6） and A. crenata group （n＝6） by the paired comparison method. The drug was administered once daily in the morning and afternoon for three days. Serum samples were prepared from serum after redosing on 4th day. The UPLC-QE-HF-MS/ MS was used to analyze and identify the chemical constituents in A. crenata extract and serum samples. Compound Discoverer 3.0 was employed for retention time correction， peak identification， and peak extraction. According to the secondary mass spectrometry information， the Thermo mzCloud online and Thermo mzVault local databases， referring to the relevant literature and control quality spectrum information were used to preliminarily identify the chemical constituents and components absorbed into plasma of A. crenata. RESULTS A total of 34 compounds were identified from the extract of A. crenata， mainly coumarins， flavonoids， organic acids， amino acids， including bergenin， quercetin， gallic acid， L-pyroglutamic acid， etc. Besides， 5 components absorbed into plasma were identified from serum samples: L-pyroglutamic acid， syringic acid， bergenin， cinnabar root saponin A， and mycophenolic acid. CONCLUSIONS L-pyroglutamic acid， syringic acid， bergenin， cinnabar root saponin A， and mycophenolic acid may act as the pharmacodynamic material basis of A. crenata.

Objective To investigate the safety and efficacy of totally no tube three-port thoracoscopic surgery (TNTT) for thymic tumor via lateral thoracic approach. Methods The clinical data of patients with thymoma admitted to the Department of Thoracic Surgery of the General Hospital of Northern Theater Command from November 2021 to May 2022 were retrospectively analyzed. The patients were divided into a TNTT group and a single utility port video-assisted thoracic surgery (SVATS) group according to different surgical methods. The clinical data were compared between the two groups. Results A total of 111 patients were collected. There were 44 patients in the TNTT group, including 20 males and 24 females, with an average age of 60.11±8.64 years, and 67 patients in the SVATS group, including 30 males and 37 females, with an average age of 62.40±7.92 years. There was no significant difference between the two groups in the baseline data (P>0.05). The postoperative hospital stay and intraoperative blood loss were shorter or less in the TNTT group (P<0.05), and the visual analogue scale score 48 hours after the operation was smaller in the SVATS group (P<0.05). Conclusion TNTT has a good surgical safety, and can shorten postoperative hospital stay, reduce intraoperative blood loss, and has significant advantages in enhanced recovery after surgery, but SVATS can reduce postoperative pain in patients.

Objective To analyze the learning curve of Da Vinci robotic segmentectomy. Methods Cumulative sum analysis (CUSUM) was used to analyze the learning curve of Da Vinci robotic segmentectomy performed by the General Hospital of Northern Theater Command from February 2018 to December 2020. The learning curve was obtained by fitting, and R2 was used to judge the goodness of fitting. The clinical data of patients in different stages of learning curve were compared and analyzed. Results The first 50 patients who received Da Vinci robotic segmentectomy were included, including 24 males and 26 females, with an average age of 61.9±10.6 years. The operation time decreased gradually with the accumulation of operation patients. The goodness of fitting coefficient reached the maximum value when R2=0.907 (P<0.001), CUSUM (n) =0.009×n3−0.953×n2+24.968×n−7.033 (n was the number of patients). The fitting curve achieved vertex crossing when the number of patients reached 17. Based on this, 50 patients were divided into two stages: a learning and improving stage and a mastering stage. There were statistical differences in the operation time, intraoperative blood loss, postoperative drainage volume, number of lymph node dissection, postoperative catheter time, postoperative hospital stay, and postoperative complications between the two stages (P<0.05). Conclusion It shows that the technical competency for assuring feasible perioperative outcomes can be achieved when the cumulative number of surgical patients reaches 17.

Objective To investigate the imaging features of intestinal schwannoma(IS)in order to improve the diagnostic ability of the disease.Methods The clinical and imaging data of 14 patients with surgically and pathologically confirmed IS were retrospectively analyzed,including the location,size,morphology,nature,growth pattern,CT density,MRI signal,PET/CT metabolism and other characteristics of the tumors.Results Of the 14 IS cases,the lesions of 3 cases were located in the duodenum,2 cases in the cecum,8 cases in the colon and 1 case in the rectum.The lesions were all round or oval,with an average maximum diameter of(2.4±1.1)cm.The lesions were solid in 13 cases,extraluminal growth in 10 cases,cystic degeneration in 1 case and myxoid degeneration in 1 case.Chronic inflammatory lymph nodes were seen around the diseased intestines in 9 cases,and the short diameter of lymph nodes was greater than 5 mm in 6 cases.All 14 cases of IS showed low attenuation on plain CT scan,and progressive enhancement after contrast injection,including 1 case of mild enhancement,2 cases of moderate enhancement,and 11 cases of obvious enhancement.Two cases of IS showed low signal intensity on T1WI,slightly high signal intensity on T2WI,significantly high signal intensity on DWI,and obvious progressive enhancement after contrast injection on MRI.Two cases of IS showed high metabolism on 18F-FDG-PET/CT,and the SUVmax was 9.4 and 8.8,respectively.Conclusion The imaging findings of IS were characteristic to a certain extent.They mainly manifested as solid nodules or masses derived from the intestinal submucosa,with uniform attenuation or signal intensity,obvious progressive enhancement after contrast injection,obvious hypermetabolism on 18F-FDG-PET/CT,and slightly larger homogeneous lymph nodes were common around the lesions.

AIM To determine the contents of aspartic acid,glutamic acid,serine,glycine,threonine,citrulline,arginine,alanine,γ-amino-butyric acid,tyrosine,valine,phenlalanine,isoleucine,ornithine,leucine,lysine and proline in Gualoupi Injection and its intermediates,and to analyze their change laws.METHODS The OPA-FMOC online derivatization analysis was performed on a 45℃ thermostatic Waters XBridge C18 column(4.6 mm×100 mm,3.5 μm),with the mobile phase comprising of phosphate buffer solution-[methanol-acetonitrile-water(45 : 45 : 10)]flowing at 1 mL/min in a gradient elution manner,and the detection wavelengths were set at 262,338 nm.Principal component analysis and heatmap analysis were adopted in chemical pattern recognition for the corresponding intermediates in ten processes of six batches of samples.RESULTS Seventeen amino acids showed good linear relationships within their own ranges(R2>0.998 0),whose average recoveries were 83.4％-119.5％with the RSDs of 0.91％-7.94％.Different batches of samples in the same process were clustered,and the corresponding intermediates in different processed were clustered into three groups.Alcohol precipitation and cation exchange column demonstrated the biggest influences on amino acid composition.CONCLUSION This experiment can provide important references for the critical factors on quality control of Gualoupi Injection,thus ensure the stability and uniformity of final product.

To study the clinical correlation between fasting plasma glucose, lipid metabolism, prostate-specific antigen and prostate volume in patients with benign prostatic hyperplasia, and to explore the combined effect as diagnostic indicators. A total of 108 patients with benign prostatic hyperplasia treated in Beijing University of Chinese Medicine Third Affiliated Hospital from June 2021 to March 2023 were retrospectively analyzed as the hyperplasia group, and 98 healthy physical examination personnel were selected as the control group during the same period. Compare the differences in levels of fasting plasma glucose (FPG), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), small and dense low-density lipoprotein cholesterol (sdLDL-C), homocysteine, lipoprotein a (LPa), prostate specific antigen (PSA), and free prostate specific antigen (fPSA) between two groups of patients. Using Pearson analysis method to analyze the correlation between the above indicators and the size of prostate volume in patients with benign prostatic hyperplasia; using multiple linear regression to analyze the influencing factors of prostate volume enlargement; draw receiver operating characteristic (ROC) curves and analyze the application value of individual and combined detection of HDL, FPG, PSA, and fPSA. The results showed that there were significant differences in HDL, FPG, PSA, and fPSA levels between the control group and the proliferative group( P<0.05). The size of prostate volume is negatively correlated with HDL( r=-0.183, P<0.05) and positively correlated with FPG ( r=0.202, P<0.05), PSA( r=0.412, P<0.05), and fPSA( r=0.425, P<0.05). The results of multiple linear regression analysis showed that HDL( P=0.000), FPG( P=0.048), PSA( P=0.044), and fPSA ( P=0.012) were risk factors for increased volume of benign prostatic hyperplasia; ROC curve analysis shows that the AUC of HDL, FPG, PSA, and fPSA combined detection is 0.823, which is better than individual detection. In conclusion,HDL, FPG, PSA, fPSA has close correlation with hyperplasia of prostate, the joint detection may has better prediction for benign prostatic hyperplasia.