Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Objective:To explore the medication law of national TCM master Lu Fang in the treatment of primary trigeminal neuralgia (PTN) based on data mining.Methods:With the prescription of the outpatient patients of Harbin Traditional Chinese Medicine Hospital of Professor Lu Fang from September 2014 to September 2022 as the data source, the frequency, property and taste, and meridian tropism of the prescribed drugs were analyzed using Excel 2022 software. R 4.2.1 was used for mining analysis on Chinese materia medica, including correlation, relevance, and clustering,and the medication law in the treatment of PTN was discussed.Results:A total of 300 prescriptions were analyzed, involving 177 kinds of Chinese materia medica, with a frequency of 3 120 times, and 34 kinds of of high-frequency Chinese materia medica. The high frequently Chinese materia medica included Chuanxiong Rhizoma, Angelicae Dahuricae Radix, Puerariae Lobatae Radix, Ligustici Rhizoma et Radix, and Viticis Fructus. The main properties were warm, slightly cold, and neutral, while the main tastes were pungent, bitter, and sweet. The meridian tropism analysis ranked the liver, lung, spleen, and stomach meridians in descending order. Analysis yielded 21 strong association rules, and the association analysis formed a core prescription group based on Chuanxiong Rhizoma, Angelicae Dahuricae Radix, and Ligustici Rhizoma et Radix. The analysis obtained 5 types of clustering combinations.Conclusion:Professor Lu Fang's the medication law to treat primary trigeminal neuralgia is mainly dispelling wind and alleviating pain, which is often combined with the methods, such as searching and dredging collaterals, clearing and dispelling the stagnated heat, calming the liver and subduing yang, soothing the liver and invigorating the spleen.

Objective To explore the traditional Chinese medicine(TCM)syndrome character-istics and medication patterns of cerebral small vessel disease(CSVD)using data mining techniques.Methods Clinical research literature on TCM treatment of CSVD,published from the establishment of the database to September 1,2024,was retrieved from the China National Knowledge Infrastructure(CNKI),Wanfang,and VIP databases.Analyses were conducted on syndromes,drug frequencies,properties,flavors,and meridian tropisms.Data mining was performed using R4.4.1 software to ex-plore associations,correlations,and clustering of TCM herbs,aiming to elucidate medication patterns in CSVD treatment.Results A total of 60 prescription formulas for treating CSVD were screened,involving 142 TCM herbs with a total usage frequency of 1,312 times.The top five most frequently used herbs were Chuanxiong,Danggui,Dilong,Huangqi,and Chishao.Herb properties were pre-dominantly warm and cold;flavors were mainly pungent,bitter,and sweet;and meridian tropisms were primarily to the liver,spleen,and heart meridians.Twenty-nine strong association rules were identified,and association analysis revealed core herbal combinations centered around Chuanxiong,Chishao,and Danggui.Clustering analysis yielded five herbal combinations.Conclusion CSVD is characterized by a deficiency in essence and excess in superficiality.Treatment should focus on tonify-ing deficiencies and eliminating excesses,combining both tonification and purgation methods.Medication patterns predominantly involve herbs for promoting blood circulation and removing blood stasis,often combined with herbs for nourishing the kidney and marrow,calming the liver and suppressing wind,and awakening the mind and opening the orifices.

Objective:To investigate the effects of massive blood transfusion on serum electrolyte balance and serum levels of C-reactive protein (CRP), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in patients with severe trauma.Methods:A total of 83 patients with severe trauma who received treatment in Eastern District of LiHuili Hospital, Ningbo Medical Center between July 2019 and December 2020 were included in this study. All of them underwent blood transfusion. They were divided into massive blood transfusion group ( n = 29) and general blood transfusion group ( n = 54) according to the volume of blood transfused. Changes in coagulation function, electrolyte, liver-kidney function and inflammatory factor levels pre- and post-blood transfusion were compared between massive blood transfusion and general blood transfusion groups. Results:At 1 day after blood transfusion, activated partial thromboplastin time (APTT) and prothrombin time (PT) in the massive blood transfusion group were (45.64 ± 2.78) seconds and (17.71 ± 2.08) seconds, respectively, which were significantly longer than those in the general blood transfusion group [(41.02 ± 2.80) seconds, (15.35 ± 1.72) seconds, t = 5.53, 7.18, P < 0.05). At 1 day after blood transfusion, levels of tumor necrosis factor-α, interleukin-6 and C-reaction protein in the massive blood transfusion group were (1.84 ± 0.32) μg/L, (113.72 ± 13.34) ng/L, (28.94 ± 4.22) mg/L, respectively, which were significantly increased compared with those measured before blood transfusion [(1.28 ± 0.29) μg/L, (95.18 ± 10.64) ng/L, (16.48 ± 3.37) mg/L, t = 6.98, 5.85, 12.42, all P < 0.05]. Levels of tumor necrosis factor-α, interleukin-6 and C-reaction protein in the general blood transfusion group were (1.34 ± 0.27) μg/L, (98.54 ± 9.62) ng/L, (20.05 ± 3.30) mg/L, respectively at 1 day after blood transfusion, which were significantly increased compared with those measured before blood transfusion [(1.23 ± 0.26) μg/L, (94.22 ± 8.82) ng/L, (16.16 ± 3.39) mg/L, t = 2.15, 2.43, 6.04, all P < 0.05]. At 1 day after blood transfusion, serum levels of tumor necrosis factor-α and C-reaction protein in the massive blood transfusion group were significantly higher than those in the general blood transfusion group ( t = 7.53, 10.59, both P < 0.05). At 1 day after blood transfusion, serum levels of K + and Ca 2+ in the massive blood transfusion group were (3.56 ± 0.54) mmol/L and (1.87 ± 0.28) mmol/L, respectively, which were significantly lower than those in the general blood transfusion group [(4.27 ± 0.34) mmol/L, (2.26 ± 0.24) mmol/L, t = 7.34, 6.65, both P < 0.05]. Serum levels of alanine aminotransferase and aspartate aminotransferase in the massive blood transfusion group were (52.46 ± 20.27) U/L, (82.37 ± 31.15) U/L, respectively, which were significantly higher than those in the general blood transfusion group [(37.57 ± 10.31) U/L, (49.35 ± 10.14) U/L, t = 4.44, 7.14, both P < 0.05)]. The incidence of abnormal liver function in the massive blood transfusion group was significantly higher than that in the general blood transfusion group [62.07% (18/29) vs. 29.63% (16/54), χ2 = 10.13, P < 0.05)]. Conclusion:The internal environment of patients with severe trauma will change after massive blood transfusion. Their coagulation function, inflammatory factors, liver function and electrolyte balance should be monitored in time.

Primary myelofibrosis (PMF) is a chronic myeloproliferative disorder in human bonemarrow. Over 50% of patients with myelofibrosis have mutations in JAK2, MPL, or CALR. However,these mutations are rarely detected in children, suggesting a difference in the pathogenesis ofchildhood PMF. In this study, we investigated the response to drug treatment of a monozygotic twinpair with typical childhood PMF. The twin exhibited different clinical outcomes despite following the same treatment regimen. The transcriptomic profiles of patient samples after drug treatment (E2and Y2) were significantly different between the twin pair, which is consistent with the observationthat the drug treatment was effective only in the younger brother, despite the twin being geneticallyidentical. Bioinformatics analysis of the drug-responsive genes showed that the JAK-STAT pathwaywas activated in the cured younger brother, which is opposite to the pathway inhibitionobserved in adult PMF cases following treatment. Moreover, apoptosis and cell cycle processes wereboth significantly influenced by drug treatment in the sample of younger brother (Y2), implyingtheir potential association with the pathogenesis of childhood PMF. Gene mutations in JAK2,MPL, or CALR were not observed; however, mutations in genes including SRSF2 and SF3B1occurred in this twin pair with childhood PMF. Gene fusion events were extensively screened inthe twin pair samples and the occurrence of IGLV2-14-IGLL5 gene fusion was confirmed. The currentstudy reported at transcriptomic level the different responses of monozygotic twin brothers withchildhood PMF to the same androgen/prednisone treatment regimen providing new insights into thepotential pathogenesis of childhood PMF for further research and clinical applications.

OBJECTIVE By analyzing the high risk factors for pulmonary fungus infection in intensive care units of neurosurgery,this paper may be regarded as a good reference for early diagnosis and treatment. METHODS According to the domestic diagnostic standard on pulmonary fungus infection,we analyzed the clinical data of 58 patients with pulmonary fungus infection in department of neursurgery. RESULTS Totally 117 strains of fungi were isolated from the 58 cases.Candidiasis was the most frequent type,accounting for 92.3%.Some factors,such as the severity of underlying diseases,long-time coma,long-term use of broad-spectrum antibiotic,abuse of glucocorticoid,the open airway and some traumatic intubations might be regarded as the high risk factors for pulmonary fungus infection.Fluconazole showed good clinical effects on the treatment of fungus infection. CONCLUSIONS It is important to eliminate the high risk factors for pulmonary fungus infection,to provide early diagnosis and to use prophylactic antifungal agent,which can reduce the incidence rate of pulmonary fungus infection.