Objective:To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China.Methods:As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.), karyotypes, auxiliary examinations, and treatments were collected and analyzed.Results:Among the 1 089 TS cases, 809 were recorded karyotypes. The karyotype distribution was as follows: 45, X in 317 cases (39.2%), X chromosome structural variants (including partial deletions of p or q arm, ring chromosome, and marker chromosome) in 89 cases (11.0%), 45, X/46, XX mosaicism in 158 cases (19.5%), mosaicism with X chromosome structural variants in 209 cases (25.8%), and presence of Y chromosome material in 36 cases (4.4%). Among the 824 TS cases, the age of diagnosis was 9.7(6.4, 12.2) years, with a height standard deviation score (HtSDS) of -3.1±1.2. Five hundred and fifty three cases underwent growth hormone (GH) stimulation test, and 352 cases (63.7%) had GH peak values <10 μg/L and 75.9% (577/760) had low IGF1 levels, with IGF1 SDS ≤-2 accounting for 38.2% (290 cases). Among 471 cases aged ≥8 years, 132 cases (28.0%) showed spontaneous sexual development (mean bone age (11.0±1.7) years), 10 cases had spontaneous menarche (mean bone age (12.0±2.2) years), and 2 cases had regular menstrual cycles. Common physical features included cubitus valgus (311 cases (28.5%)), neck webbing (188 cases (17.2%)), low posterior hairline (185 cases (17.0%)), shield chest (153 cases (14.0%)), high arched palate (127 cases (11.6%)), short fourth metacarpal (43 cases (3.9%)), and spinal abnormalities (38 cases (3.5%)). Congenital cardiovascular and urogenital anomalies occurred in 91 cases (19.4%) and 66 cases (12.0%)respectively. Abdominal ultrasound in 33 cases (7.2%) indicated fatty liver, hepatomegaly, intrahepatic bile duct stones, and splenomegaly. Among 23 cases undergoing oral glucose tolerance test (OGTT) test, 2 were diagnosed with diabetes mellitus and 4 with impaired glucose tolerance. Following diagnosis, 669 cases (80.7%) received rhGH treatment at a chronological age of (9±4) years and bone age of (8.3±3.2) years. Additionally, 112 cases (19.4%) received sex hormone replacement therapy starting at the age of (14±4) years and bone age of (12.6±1.2) years.Conclusions:The karyotypes of 45, X and mosaicism were most common in Chinese children with TS. The clinical manifestations were mainly short stature and gonadal dysplasia. However, a few TS children could be in the normal range of height, and some cases among those aged of ≥8 years old had spontaneous sexual development. Some exhibited physical features, congenital cardiovascular and urogenital anomalies, and dysfunction of the hypothalamic-pituitary-IGF1 axis. Moreover, a few of them developed impaired glucose tolerance and diabetes mellitus. Following diagnosis, most of the patients received rhGH treatment, and a few of them received sex hormone replacement therapy.

Objective:To explore the clinicopathological characteristics of primary bladder mucosal-associated lymphoid tissue extranodal marginal zone lymphoma (MALToma).Methods:A retrospective case series study was conducted. The clinicopathological data of 9 primary bladder MALToma patients diagnosed and underwent transurethral resection of bladder tumors at the Fujian Provincial Hospital, Zhangzhou Municipal Hospital, Mindong Hospital of Ningde City, Zhangzhou Second Hospital and Fuzhou Taijiang Hospital from December 2008 to December 2021 were collected. Paraffin-embedded surgical specimens were collected for HE staining, immunohistochemical staining and genetic testing, the clinicopathological characteristics of patients were summarized, and the literature was reviewed.Results:Of the 9 cases, 8 were female and 1 was male, the age was (59± 11) years old (range: 39-74 years old). Two cases had 3 lesions, 3 cases had 2 lesions, and 4 cases had single lesion. The maximum diameter of the mass was (3.2±1.9) cm (range: 0.3-7.0 cm). The follow-up time was 6-127 months, 4 cases lost to follow-up, 4 cases were disease-free survival, and 1 case was survival with tumor. Pathomorphologically, the bladder tissue consisted of diffusely infiltrating small-to-medium sized lymphocytes, with moderate amounts of pale-staining cytoplasm, without obvious nucleoli, some of them were translucent, and the mitosis was rare. Large cell proliferation in some areas was observed in 1 case, with prominent nucleoli and mitotic figures. Tumor cells in all 9 patients expressed CD20; bcl-2, CD43 and CD38 were positive in some cells in 4 cases, and CD138 was positive in a few cells in 2 cases; κ was positive in 4 cases, and scattered positive in 5 cases; λ was positive in 4 cases, and scattered positive in 5 cases. B-cell receptor gene clonal rearrangement was positive in all 8 cases who underwent the assay. No break-apart signal was observed in all 6 cases who underwent the fluorescence in situ hybridization assay with MALT1 gene segregation probe.Conclusions:Primary bladder MALToma is a rare low-grade B-cell lymphoma that is more commonly found in elderly women. There is no abnormal change in MALT1 gene.

Eleven alkaloids were isolated from the twigs and leaves of Ervatamia pandacaqui using chromatographic methods of silica gel, Sephadex LH-20, ODS, and HPLC.Their structures were elucidated by physical,chemical and spectroscopic methods and determined as voacristine 7-hydroxyindolenine (1),iboxygaine (2), 19S-hydroxyibogamine (3), 3-oxotabersonine (4), perivine (5), pericyclivine (6), rhazinalinol (7), geissoschizol (8), 3, 14-dihydroolivacine (9), vallesamine (10), and conolobine A (11), respectively.All compounds were isolated from this plant for the first time.

Objective:To investigate the clinical manifestations, auxiliary examination results, prognosis and treatment of children with typical hemolytic uremic syndrome (D + HUS). Methods:The clinical data of 36 patients diagnosed as D + HUS in the Department of Pediatrics of Nanjing Jinling Hospital from January 2001 to January 2019 were collected, and the laboratory results including blood routine, liver and kidney function, coagulation function, humoral immunity and urine were compared before and after treatment. Results:The white blood cell count[ (9.28±6.77)×10 9/L vs.(11.20±5.93) ×10 9/ L ], C-reactive protein [7.15(3.34, 29.33) mg/L vs.31.83(25.03, 39.75) mg/L], reticulocyte count [(112.49±76.25)×10 9/L vs. (206.49±147.99)×10 9/L], erythrocyte sedimentation[15.02(11.79, 22.83) mm/1 h vs.28.06(24.13, 40.52) mm/1 h] , aspartate aminotransferase[50.04(41.92, 60.11) U/L vs.62.61(54.58, 83.52) U/L], alanine aminotransferase [16.72(11.80, 24.74) U/L vs.24.54(20.30, 34.36) U/L], uric acid [(532.84±309.06) μmol/L vs.(606.64±327.23) μmol/L], serum creatinine[160.07(124.87, 221.18) μmol/L vs.200.56(160.62, 283.01)μmol/L ], blood urea nitrogen [20.74(15.77, 28.40) mmol/L vs.33.67(25.91, 45.84) mmol/L], lactate dehydrogenase [488.21(337.59, 692.82) U/L vs.1 520.68(734.24, 2 272.10) U/L ], prothrombin time [(12.14±5.89) s vs. (17.91±6.12) s ], activated partial thrombin time [(25.05±6.26) s vs.(32.38±5.49) s], fibrinogen [ (3.79±2.17) g/L vs.(5.17±3.88) g/L], D-dimer [0.92(0.30, 1.13) mg/L vs. 1.27(1.01, 1.90) mg/L ], 24-hour urinary proteinuria [ (84.05±44.19) mg/(kg·24 h) vs.(112.18±78.26) mg/(kg·24 h) ], urinary sediment [175.73(79.72, 258.66)×10 7/L vs. 160.38(118.68, 361.83)×10 7/L], N-acetyl-β-D-glucosaminidase [25.10(18.84, 33.02) U/(g·cr) vs. 41.57(29.49, 58.61) U/(g·cr)], urinary retinol binding protein [0.35(0.18, 1.33) mg/L vs 1.05(0.66, 1.68) mg/L.] in patients after treatment were significantly lower than those before treatment, and the differences were all statistically significant(all P<0.05); patients had higher levels of red blood cell count [ (4.51±1.73)×10 9/L vs.(2.43±1.40) ×10 9/L], platelet[(126.82±78.35)×10 9/L vs. (85.21±69.38)×10 9/L], hemoglobin[(118.46±18.27) g/L vs. (62.36±16.11) g/L], and complement C 3levels [(0.74±0.39) g/L vs.(0.58±0.27) g/L ] after treatment, and the differences were all all statistically significant(all P<0.05). Children with D + HUS showed multiple system injuries.Among 36 cases, 17 cases (47.22%) had fever, 31 cases (86.11%) had abdominal pain and diarrhea, 29 cases (80.56%) had nausea and vomiting, 8 cases (22.22%) had headache and dizziness, 36 cases (100.00%) had proteinuria and hematuria, 34 cases (94.44%) had renal insufficiency, and 21 cases (58.33%) had yellow staining of skin and sclera.The auxiliary examination for abnormal results mainly included renal pathology (100.00%) (mesangial proliferation endothelial cell proliferation and swelling, and shedding of renal tubular brush borders), bone marrow pathology (100.00%) (active bone marrow hyperplasia), and renal B-ultrasound (86.67 %) (kidney injury-like sound image). Conclusions:D + HUS in children shows multiple system damage.Digestive system abnormalities are the main causative factor of D + HUS in children, and the disease is dangerous.Therefore, early diagnosis and active treatment can improve the prognosis.

Objective:To compare the long-term oncological outcomes between laparoscopic and abdominal surgery in stage Ⅰa1 （lymph-vascular space invasion-positive, LVSI +）- Ⅰb1 cervical cancer patients with different tumor sizes. Methods:Based on the Big Database of Clinical Diagnosis and Treatment of Cervical Cancer in China (1538 project database), patients with stage Ⅰa1 （LVSI +）-Ⅰb1 cervical cancer who treated by laparoscopic or abdominal surgery were included. The 5-year overall survival (OS) and 5-year disease-free survival (DFS) between the two surgical approaches were compared under 1∶1 propensity score matching (PSM) in different tumor diameter stratification. Results:(1) A total of 4 891 patients with stage Ⅰa1 （LVSI +）-Ⅰb1 cervical cancer who underwent laparoscopy or laparotomy from January 1, 2009 to December 31, 2016 were included in the 1538 project database. Among them, 1 926 cases in the laparoscopic group and 2 965 cases in the abdominal group. There were no difference in 5-year OS and 5-year DFS between the two groups before matching. Cox multivariate analysis suggested that laparoscopic surgery was associated with lower 5-year DFS ( HR=1.367, 95% CI: 1.105-1.690, P=0.004). After 1∶1 PSM matching, 1 864 patients were included in each group, and there was no difference in 5-year OS between the two groups （94.1% vs 95.4%, P=0.151）. While, the inferior 5-year DFS was observed in the laparoscopic group (89.0% vs 92.3%, P=0.004). And the laparoscopic surgery was associated with lower 5-year DFS ( HR=1.420, 95% CI: 1.109-1.818, P=0.006). (2) In stratification analysis of different tumor sizes, and there were no difference in 5-year OS and 5-year DFS between the laparoscopic group and abdominal group in tumor size ≤1 cm, >1-2 cm and >2-3 cm stratification (all P>0.05). Cox multivariate analysis showed that laparoscopic surgery were not related to 5-year OS and 5-year DFS ( P>0.05). In the stratification of tumor size >3-4 cm, there was no difference in 5-year OS between the two groups ( P>0.05). The 5-year DFS in the laparoscopic group was worse than that in the abdominal group (75.7% vs 85.8%, P=0.025). Cox multivariate analysis suggested that laparoscopic surgery was associated with lower 5-year DFS ( HR=1.705, 95% CI: 1.088-2.674, P=0.020). Conclusions:For patients with stage Ⅰa1 （LVSI +）-Ⅰb1 cervical cancer, laparoscopic surgery is associated with lower 5-year DFS, and the adverse effect of laparoscopic surgery on oncology prognosis is mainly reflected in patients with tumor size >3-4 cm. For patients with tumor sizes ≤1 cm, >1-2 cm and >2-3 cm, there are no difference in oncological prognosis between the two surgical approaches.

Objective:To investigate the clinicopathological features, diagnosis, differential diagnosis and immunohistochemical (IHC) characteristics of paraganglioma of urinary bladder (PUB).Methods:The clinical and pathological data of 23 cases of PUB were collected at the Second Affiliated Hospital of Fujian Medical University (7 cases); Fujian Provincial Hospital (8 cases); Fujian Medical University Union Hospital (6 cases); and First Affiliated Hospital of Fujian Medical University (2 cases) from May 2010 to November 2018. IHC staining for CK, GATA3, CD56, Syn, CgA, S-100 protein, HMB45, SDHB, OCT3/4 and Ki-67 was done using EliVision method; and the relevant literature was reviewed.Results:There were 14 women and 9 men, aged ranged from 21 to 73 years (median 51 years). Clinically, patients presented with headache, vertigo, palpitation, hypertensive crisis during micturition, hypertension, blurred vision, gross hematuria and paroxysmal pallor. The tumor sizes ranged from 0.9 to 6 cm (mean2.5 cm). Macroscopically, most tumors were exophytic and well delineated within the lamina propria or muscularis propria. The tumors were firm and nodular and showed grayish-tan cut surface. Histologically,the tumor growth pattern was expansive or showed interpenetrating infiltrative growth within the lamina propria or muscularis propria; the tumor cells were typically arranged in distinctive nests (Zellballen) with organoid arrangement; pseudo-rosette were seen in some cases. The cells were rounded or polygonal and had rich, acidophilic or amphophilic cytoplasm and may contain pigmented granules and vacuoles; the nuclei were central or eccentric, with small nucleoli, although occasionally some nuclei were pleomorphic and hyperchromatic. Spindled sustentacular cells could be seen around the nests of tumor cells in some cases. There were abundant vessels that were fissure-like, hemangioma-like or dilated. By IHC, the tumor cells were positive for GATA3 (2/23), OCT3/4 (2/23), CD56 (22/23), Syn (23/23), CgA (22/23), S-100 (sustentacular cell, 23/23) and SDHB (23/23); and negative for CK and HMB45; Ki-67 index was 1%-5%. At follow-up, there was no recurrence or metastasis in 18 cases.Conclusions:The diagnosis of PUB relies on the morphologic and IHC features; but there may be histomorphologic heterogeneity. The most important differential diagnosis is invasive urothelial carcinoma. The tumor cells may show aberrant cytoplasmic expression of OCT3/4; there is no clear correlation between SDHB and OCT3/4 expression in the group.

Exosome, a membranous vesicle with biological activity, not only transmits active substances between cells but also transfers information between cells to participate in cell communication. Epithelial-mesenchymal transition (EMT) is a process by which epithelial cells acquire migratory and invasive properties to become mesenchymal stem cells. EMT is essential for the development of a spectrum of diseases. Studies have shown that exosomes have dual effects on EMT to, on the one hand, promote EMT and tumor cell invasion and metastasis and accelerate angiogenesis and tumor growth; on the other hand, exosomes can suppress tumor cell invasion, inhibit fibrosis of the heart, liver and kidney, and improve myocardial infarction by inhibiting EMT. Exosomes modulate EMT-related signaling pathways by carrying EMT-related proteins or miRNA to exert their bi-directional regulatory effects.
Epithelial-Mesenchymal Transition ; Exosomes ; Humans ; MicroRNAs ; Neoplasms ; Signal Transduction

Objective To analyze the spectrum of children's kidney pathology by renal biopsy.Methods The clinical and pathological data of the cases in Jinling Hospital involving the patients younger than 18 years old who received renal biopsy from April 1st,2004 to December 31th,2017 were retrospectively collected,and compared with the renal pathological data of 1611 children aged 0-18 years from June 1982 to March 2004.Results This study included 9925 cases of kidney diseases proven by renal biopsy.The ratio of male to female was 1.79∶ 1.Primary glomerulonephritis (PGN) accounted for 66.14％,and secondary glomerulonephritis (SGN) accounted for 28.00％.Top five of the PGN were IgA nephropathy (IgAN,19.11％),mesangial proliferative glomerulonephritis (MsPGN,16.07％),minimal change disease (MCD,14.20％),focal segmental glomerulosclerosis (FSGS,6.19％)and membranous nephropathy (MN,4.70％) in whole children,IgAN (13.12％),MsPGN (11.20％),MCD (10.63％),FSGS (4.55％) and MN (2.54％) in males,and IgAN (5.99％),MsPGN (4.87％),MCD (3.57％),MN (2.16％) and FSGS (1.63％) in females.Top three of the SGN were Henoch-Schonlein purpura nephritis (HSPN,17.74％),lupus nephritis (LN,8.23％) and vasculitis nephropathy (1.82％).The male was in a dominant position in all kinds of pathologic types than female except LN.HSPN was the most frequent type in adolescents between 6-13 years old.LN was the commonest one in 14-18-year-old girls,while IgAN was the the most common in 14-18-year-old boys.Post infective nephritis was the most popular in 12-14-year-old teenagers.It was also found that MN ascended in female.When compared with the data before 2004,HSPN and LN accounted for a greater proportion in SGN,post infective nephritis displayed a smaller proportion.Conclusions PGN is the mainly kind of glomerular disease as before,and immune disorder related to glomerular diseases increase and post infective nephritis decreases in proportion.This study provides the reference and epidemic data for diagnosis,treatment and prevention of children's renal diseases.

Objective To investigate the renoprotective effect of aspirin-triggered lipoxins(ATL)on kidney of mice with acute kidney injury(AKI).Methods Eighty-eight male specific pathogen-free(SPF)C57BL/6J mice were randomly divided into lipopolysaccharide(LPS)groups(including 2 h group,4 h group,8 h group,12 h group, 24 h group),ATL+LPS(including 2 h group,4 h group,8 h group,12 h group,24 h group)and normal control group according to random numble table,and each group had 8 mice.The mice in LPS groups were given LPS intraperitoneal injection to establish AKI animal models,while the mice in ATL+LPS groups were given ATL intraperitoneal injection 30 minutes before LPS intraperitoneal injection.The enzyme linked immunosorbent assay was used to test the serum creatinine(Scr),serum urea nitrogen(BUN),tumor necrosis factor-α(TNF-α),interleukin-1β(IL-1β)and urine neutrophil gelatinase-associated lipocalin(NGAL),kidney injury molecule-1(KIM-1),cysteine-rich protein-61 (Cyr61)and netrin-1 levels of mice.Results The kidney tissue injury scores of mice of ATL+LPS group[4 h:(22.32 ± 1.04)scores,8 h:(31.11 ± 1.86)scores,12 h:(18.22 ± 0.92)scores,24 h:(20.87 ± 3.18)scores] were lower than those of LPS group at the corresponding time points[4 h:(35.47 ± 2.27)scores,8 h:(52.28 ± 2.82) scores,12 h:(54.99 ± 4.56)scores,24 h:(53.41 ± 4.76)scores],and the differences were statistically significant(all P<0.01).The values of Scr,BUN,TNF-α and IL-1β in ATL+LPS group[Scr 8 h:(143.07 ± 5.02)μmol/L, BUN 12 h:(33.07 ± 3.52)mmol/L,TNF-α 4 h:(196.33 ± 14.181)ng/L and 8 h:(221.77 ± 10.11)ng/L,IL-1β 4 h:(50.25 ± 2.67 ng/L)]were lower than those in LPS group at the corresponding time points[Scr 8 h:(227.43 ± 11.17)μmol/L,BUN 12 h:(59.68 ± 3.84)mmol/L,TNF-α 4 h:(267.87 ± 26.48)ng/L and 8 h:(334.78 ± 21.08)ng/L,IL-1β 4 h:(89.45 ± 5.87)ng/L],and the differences were statistically significant(all P<0.01). The urine NGAL[4 h:(56.76 ± 4.01)μg/L,8 h:(65.44 ± 7.81)μg/L],KIM-1[8 h:(78.19 ± 9.48)μg/L] and netrin-1[8 h:(40.12 ± 2.01)ng/L,12 h:(36.87 ± 2.87)ng/L]of mice in ATL+LPS group were lower than those in LPS group at the corresponding time points[NGAL 4 h:(168.77 ± 10.77)μg/L,8 h:(155.33 ± 8.26) μg/L;KIM-1 8 h:(124.73 ± 13.47)μg/L;netrin-1 8 h:(89.17 ± 2.74)ng/L,12 h:(81.11 ± 3.88)ng/L],and the differences were statistically significant(all P<0.01).Conclusions ATL can treat LPS-induced AKI and play a renoprotective role in the kidney.

Objective To fabricate an immunofluorescence probe system of carbon dots conjugated antibody based on antigen-antibody reaction principles.Methods A green one-step microwave assisted pyrolysis method was applied to preparing fluorescent carbon dots (CDs) using aminoglucose as carbon source and the obtained CDs were conjugated with antibody via EDC/NHS reactions to build CDs based fluorescent probe.Furthermore,the properties of CDs and CDs based probe system were evaluated by Fourier transform infrared (FTIR) spectra,transmission electron microscopy (TEM),UV-vis absorption and so on.Results The as-prepared CDs showed excellent fluorescence and hydrophilicity and CDs based immunofluorescence probe exhibited the capability of quick detection of E.coli O157:H7.Cinclusion Fluorescent CDs as one new emerging environment-friendly nanomaterial has great potential in biosensors.