Objective:To investigate the clinicopathological and molecular genetic characteristics of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and their prognostic values.Methods:A retrospective analysis was performed on 14 cases of diffuse gliomas with PLNTY features diagnosed at the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2020 to August 2024. Their clinicopathological characteristics were examined, and their molecular genetic and epigenetic features were assessed using next-generation sequencing (NGS) and methylation analysis. Factors influencing prognosis were also analyzed.Results:Among the 14 patients, there were 8 males and 6 females, aged 3-62 years, median 29 (9, 50) years. All cases were initially diagnosed as low-grade diffuse gliomas histologically but exhibited the histological and immunohistochemical features of PLNTY. At the molecular level, all cases showed molecular abnormalities involving the mitogen-activated protein kinase pathway, including 5 cases with FGFR3-TACC3 (F3T3) fusion, 3 cases with FGFR2 fusion, 5 cases with BRAF V600E mutation, and 1 case with FGFR1 mutation. Among them, TERT promoter mutations were frequently observed in tumors with F3T3 fusion (5/5), while NCOR2 in-frame insertion mutations were prominent in tumors with non-F3T3 fusions. Clinical follow-up showed recurrence in 3 cases, all of which had F3T3 fusion and concurrent TERT promoter mutations. Prognostic analysis confirmed that F3T3 fusion with concurrent TERT promoter mutation was associated with poor prognosis.Conclusions:Diffuse gliomas with PLNTY features exhibit heterogeneity in clinicopathology and molecular genetics, with FGFR3/FGFR2 fusions and BRAF/FGFR1 mutations as the most common molecular alteration. They often have concurrent F3T3 fusion and TERT promoter mutations, which are related to poor prognosis. The possibility of molecular glioblastoma should be considered for these tumors. It is thus recommended to perform genetic testing on diffuse gliomas with PLNTY features in order to facilitate integrated diagnosis and provide molecular evidence for accurate evaluation of prognoses.

Objective:To investigate the clinicopathological and molecular genetic characteristics of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and their prognostic values.Methods:A retrospective analysis was performed on 14 cases of diffuse gliomas with PLNTY features diagnosed at the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2020 to August 2024. Their clinicopathological characteristics were examined, and their molecular genetic and epigenetic features were assessed using next-generation sequencing (NGS) and methylation analysis. Factors influencing prognosis were also analyzed.Results:Among the 14 patients, there were 8 males and 6 females, aged 3-62 years, median 29 (9, 50) years. All cases were initially diagnosed as low-grade diffuse gliomas histologically but exhibited the histological and immunohistochemical features of PLNTY. At the molecular level, all cases showed molecular abnormalities involving the mitogen-activated protein kinase pathway, including 5 cases with FGFR3-TACC3 (F3T3) fusion, 3 cases with FGFR2 fusion, 5 cases with BRAF V600E mutation, and 1 case with FGFR1 mutation. Among them, TERT promoter mutations were frequently observed in tumors with F3T3 fusion (5/5), while NCOR2 in-frame insertion mutations were prominent in tumors with non-F3T3 fusions. Clinical follow-up showed recurrence in 3 cases, all of which had F3T3 fusion and concurrent TERT promoter mutations. Prognostic analysis confirmed that F3T3 fusion with concurrent TERT promoter mutation was associated with poor prognosis.Conclusions:Diffuse gliomas with PLNTY features exhibit heterogeneity in clinicopathology and molecular genetics, with FGFR3/FGFR2 fusions and BRAF/FGFR1 mutations as the most common molecular alteration. They often have concurrent F3T3 fusion and TERT promoter mutations, which are related to poor prognosis. The possibility of molecular glioblastoma should be considered for these tumors. It is thus recommended to perform genetic testing on diffuse gliomas with PLNTY features in order to facilitate integrated diagnosis and provide molecular evidence for accurate evaluation of prognoses.

Objective:To investigate the clinicopathological features of central nervous system (CNS) mesenchymal chondrosarcoma (MCS).Methods:Nine cases of CNS MCS were collected at the First Affiliated Hospital of Fujian Medical University from September 2010 to September 2020. The clinical,imaging,histopathological and immunohistochemical features were reviewed. NCOA2 gene rearrangement was evaluated by fluorescence in situ hybridization (FISH).Results:There were three male and six female patients, with age range of 1 to 59 years (median 31 years). Six cases were intracranial and three cases were intraspinal, and the tumors showed dural attachment. They were often diagnosed as meningioma basing on preoperative imaging. Microscopically, the tumors showed a characteristic biphasic histologic pattern composed of undifferentiated mesenchymal small cells and well-differentiated hyaline cartilage islands. The small cells area were positive for SOX9 (9/9), CD99 (8/9), and without BRG1 and INI1 deletion. The cartilaginous component expressed SOX9 (9/9) and S-100 protein (8/9). NCOA2 gene break apart signal was identified in five cases (5/5). Eight patients were followed up for 4-124 months. Three patients (3/8) had recurrences within one year and two patients died of the tumor.Conclusions:CNS MCS is an extremely rare malignant neoplasm with a propensity to dural involvement. Preoperative imaging has low diagnostic accuracy. CNS MCS should be differentiated from other CNS small round cell tumors and chondrosarcoma. FISH detection of NCOA2 gene rearrangement will assist the diagnosis of MCS.

Objective: To establish the method for determination of iron and its inorganic oxide in the air of workplace. Methods: The iron and its inorganic oxide was collected by MCE filter membrane and then digested by electric heating digestion apparatus. Atomic absorption spectrophotometer (AAS) or inductively coupled plasma optical emission spectrometry (ICP-OES) was used for the detection of iron and its inorganic oxide. Results: The sampling efficiency was higher than 97%; under the 372.0 nm wavelength, the linearity of AAS was good at the range of 1.0~150.0 μg/ml, the minimum quantitation concentration was 0.28 mg/m³, the maximum quantitation concentration was 6.24 mg/m³, the recovery was ranged from 99%~102%, the RSD of intra-and inter-batch precision were 0.5%~1.2% and 1.0%~2.2%, respectively; the linearity of ICP-OES was good at the range of 0.1~500 μg/ml, the minimum quantitation concentration was 0.28 mg/m³, the maximum quantitation concentration was 20.8 mg/m³, the recovery was ranged from 101%~103%, the RSD of intra-and inter-batch precision were 0.5%~1.0% and 1.5%~1.6%, respectively. Conclusion The sampling method and determination method meet the requirements of analysis and apply to the collection and determination of iron and its inorganic oxide in the air of workplace.

Objective: To establish the method for determination of titanium dioxide in the air of workplace by inductivehy coupled plasma optical emission spectrometry (ICP-OES) . Methods: The titanium dioxide was collected by filter membrane and then digested by microwave digestion apparatus in the mixed solvents (HNO₃∶HF∶H₂O=4∶1∶1) , dilutedto 25 ml and detected by ICP-OES. Results: The sampling efficiency was higher than 95%; the linearity of ICP-OES was good at the range of 10-500 μg/ml, the minimum quantitation concentration was 0.72 mg/m³ (as collecting 150 L air sample) , the maximum quantitation concentration was 21.7 mg/m³ (as collecting 960 L air sample) , the recovery was ranged from 99.0%-102.0%, the RSD of intra- and inter-batch precision were 0.5%-3.2% and 1.7%-3.5%, respectively. Conclusion The sampling method and determination method meet the requirements of guide for establishing occupational health standards-part 4: determinatin methods of air chemicals in workplace (GBZ/T 210.4-2008) , and areapplys to the collection and determination of TiO₂ in the air of workplace.

Objective To explore the effect of exogenous recombinant human erythropoietin (rhEPO) on neuronal apoptosis in neonatal rats after hyperoxia brain injury.Methods Thirty neonatal Wistar rats were randomly divided into 3 groups by random number table method:rhEPO treatment + 800 mL/L hyperoxia group (group A),9 g/L saline +800 mL/L hyperoxia group (group B),9 g/L saline + air group (group C).Group A was given subcutaneous injection of rhEPO 1 000 IU/kg for 5 days.Group B and group C received the same dose of 9 g/L saline.Group A and group B were continuously exposed to atmospheric pressure hyperoxia model cabin to maintain the oxygen concentration in the container (800 ± 30) mL/L for 5 days.During the course of the experiment,the general situation and weight changes in rats were observed.After 5 d,all rats were sacrificed and brain tissues were taken.Neuronal apoptosis in hippocampal structural region of the newborn rats was observed by terminal deoxynucleotidyl transferase dUTP nick and labeling(TUNEL) staining.Immunohistochemical method was used to detect the expression of 5-lipoxygenase in hippocampal structural region of newborn rats.Results The weight gain and brain weight of group B were lower than those of group C,the weight gain and brain weight of group A were higher than those of group B,and the differences were statistically significant(F =11.179,8.140,all P ＜ 0.05).In group A and group B were found that the neuronal nucleus of the hippocampal neurons was partially contracted,deeply dyed,and the neuronal arrangement was loose,even with local neuron deletions and focal necrosis,but in group A neuron density was higher with less necrosis than that in group B.The neuronal cells in hippocampal structural region were neat and intact in group C.The number of TUNEL positive cells in hippocampal structural region of group B[(6.20 ± 1.93) number/high power field] was significantly higher than that in group C [(1.80 ± 0.79) number/high power field],the number of TUNEL positive cells in hippocampal structural region of group A [(4.20 ± 1.32) number/high power field] was significantly lower than that in group B,and the difference was statistically significant (F =23.912,P ＜ 0.05).The number of 5-lipoxygenase positive cells in group B [(6.90 ± 1.29) number/high power field] was significantly higher than that in group C [(1.00 ± 0.67) number/high power field],the number of 5-lipoxygenase positive cells in group A [(5.60 ± 0.97)number/high power field] was significantly lower than that in group B,and the difference was statistically significant (F =95.044,P ＜ 0.05).Conclusion rhEPO has a protective effect on neonatal rats with hyperoxia brain injury,and alleviates brain cell apoptosis caused by hyperoxia brain injury,which may interfere with the 5-lipoxygenase pathway.

To investigate the mutation site of pathogenic gene in patients with hypertrophic cardiomyopathy (HCM) and to analyze the relationship between the genotype and clinical phenotype. Methods: Targeted exon capture sequencing was conducted in a HCM proband for 30 coding exons related HCM gene by all exon amplification and high-throughput sequencing. Furthermore, Sanger sequencing was performed in other family member and in 200 healthy volunteers for verification. The familial investigation included in clinical presentation, physical examination, electrocardiogram and echocardiography. Results: There were 3/6 blood relatives carrying cardiac myosin-binding protein gene MyBPC3 G772A heterozygous mutation, the mutation site was at 258 amino acid of MyBPC3 as glutamic acid (Glu) was substitute to lysine (Lys), such mutation was not found in rest of family member and not in healthy volunteers. The onset of proband and her daughter was rather late, they had palpitation and chest tightness; echocardiography showed interventricular septum basal segment thickening (16-18) mm. Proband was complicating paroxysmal ventricular tachycardia, malignant arrhythmia and heart failure, the maximum pressure gradient of left ventricular outflow was 56 mmHg, which with the high risk for sudden death. Conclusion: Comprehensive gene test has been helpful for clinical stratification, early diagnosis and treatment. MYBPC3 site mutation c.G772A might be the pathogenic mutation in that specific HCM family.

Objective: To explore the approaches and ideas of clinical pharmacists participating in drug therapy of patients with brucellosis. Methods: Clinical pharmacists participated in the clinical consultation for one patient with brucellosis. Clinical pharmacists analyzed comprehensively by asking medical history, occupation and contact history in details, adjusting the treatment scheme and performing medical education etc. Results: The consultation comments and suggestions proposed by clinical pharmacists were recognized by clinics, which played an important role in assisting doctors in the rational drug use and significantly improved the medical treatment. Conclusion: Clinical pharmacists should participate in the individualized medication and help clinicians optimize drug therapy, which can improve the safety and efficacy of medication.

Objective Thymoma is associated with autoimmune diseases. We retrospectively analyzed the clinical characteristics of thymoma complicated systemic lupus erythematosus (SLE). Methods Patients were from Qilu Hospital Shandong University between June 2004 and June 2014, and satisfied classification criteria of American College of Rheumatology (ACR) classification criteria 1997 for SLE. Thymoma was diagnosed by chest CT scan. Results Nine cases were of thymoma complicated with SLE, with the male:female ratio of 1∶8. The age of SLE onset was (48±19) years, age of thymoma discovery was (47±19) years. The follow-up period was 3 to 10 years. Three cases (33%) were benign thymoma and underwent thymectomy and verified by histopa-thology test. One case presented thymoma 9 years after SLE, 5 cases (56%) presented SLE and thymoma simultaneously, 3 cases (33%) presented SLE after thymectomy. Clinical manifestations of SLE included 4(44%) skin lesions, 8(89%) polyarthritis, 5(56%) nephritis, 3(33%) leukocytopenia, 3(33%) throm-bocytopenia, 2 (22%) of interstitial pneumonia, 4 (44%) pleural effusion, no neuropsychiatric systemic lupus erythematosus. Nine cases (100%) were ANA positive, 7 (78%) were anti-dsDNA positive. Conclusion SLE complicated thymoma usually occurs in relatively older age, tend to present with multi-systemic presentations, and high percentage of anti-dsDNA positivity.

Objective To investigate the olfactory function in patients with systemic lupus erythematosus (SLE) and to explore factors that may influence it.Methods The Connecticut Chemosensory Clinical Research Center (CCCRC) test was carried out in SLE patients and healthy controls for olfactory function testing.ELISA method was used to detect anti-ribosomal P protein antibody in the serum.The statistical methods used in this study including t test,ANOVA,LSD-t test,Pearson correlation analysis,multiple linear regression analysis,andx2 test.Results ① The CCCRC scores of the active,inactive group and healthy controls were compared,the difference was statistical significant (F=26.52,P=0.01).CCCRC score in active SLE group (62±16) was lower than that of the inactive group (80±13) the and the normal control group (83±12) (P＜0.01),while there was no statistical significant difference between the inactive group and the normal controls (P=0.226).② CCCRC score was lower in 16 ARPA positive SLE patients (61±17) than 49 negative patients (74±16) (t=2.681,P=0.009).③ In addition,CCCRC score showed a negative correlation with ARPA serum concentration (r=-0.327,P=0.008).There was no significant correlation between CCCRC score and disease course (r=0.141,P＞0.05).④ Multiple linear regression analysis indicated that CCCRC score was associated with age and ARPA.Conclusion SLE patients have olfactory dysfunction and the dys-function is associated with age and ARPA.