Objective To investigate the spectrum and features of parkin gene mutations in Chinese patients with sporadic early-onset Parkinsonism (EOP) in southern China.Methods All 156 Han Chinese patients with sporadic EOP were screened for mutations in parkin gene using SYBR Green Ⅰ Real-time PGR combined with sequencing of the entire coding region of the gene.Results Nineteen cases carried parkin mutations, including 2 homozygous, 2 compound heterozygous and 15 heterozygous mutations.Seventeen parkin gene rearrangement mutations ( 12 exon deletions and 5 exon duplications) and three small sequence mutations (ⅣS9 + 18C ＞ T,c.202-203delAG and c.813delT) were identified.The c.813delT is a novel mutation.The segment between exon 1 and 7 are mutational hot spot.Cases with parkin mutations showed no difference in initial symptoms, cardinal symptoms and disease severity, compared with cases without parkin mutations.But patients with parkin mutations showed significant earlier onset age ( ( 40.9 ± 6.8 ) years vs (35.5 ± 10.0) years, Z = -2.271, P ＜0.05) and longer disease duration ( (4.4 ±3.6) years vs (7.6 ±4.0) years,Z = - 3.680, P ＜ 0.05 ) than those without parkin mutation.Conclusions The frequency of parkin gene mutation was 12.18% in Han Chinese patients with sporadic EOP.Rearrangement mutation may be the predominant type of mutations.The exon deletion is a main mutation style.The sequence fragment between exon 1 and 7 of the parkin gene are mutational hot spots.There were no significant differences in clinical features between cases with parkin mutation and those without.However, our patient with parkin mutations showed a significantly earlier onset age, longer disease duration and slower progression than those without parkin mutation.

Objective:To analyze the factors affecting the disappearance time of airway necrosis and repair time of airway scar stenosis in patients with ulceration necrosis tracheobronchial tuberculosis (TBTB Ⅱ) after standardized chemotherapy and bronchoscopic intervention.Methods:The clinical data of 222 TBTB Ⅱ patients admitted to Hunan Chest Hospital from January 2015 to December 2018 were collected, bronchoscopic interventional treatment was performed on time. The texture, blockage of lumen, granulation proliferation, airway stenosis of TBTB patients before treatment, the disappearance time of airway dead objects, scar repair time and stenosis degree after treatment were followed up. The disappearance time of airway necrosis and repair time of airway scar stenosis and its influencing factors were recorded and analyzed.Results:In 222 patients, 508 ulceration necrosis airway lesions were found under bronchoscopy, with a median of 2(1-6); 170(76.6%) cases of airway lesions had different degrees of stenosis before treatment. 79(35.6%) patients had tough necrosis, and 86(38.7%) patients had necrosis blocking the lumen; 132(59.5%) patients had granulomatosis. The disappearance time of airway necrosis after treatment was 1 to 32 weeks, and M( Q1, Q3) was 6(3, 9) weeks; the repair time of airway scar stenosis was 2 to 73 weeks, and M( Q1, Q3) was 14(10, 19) weeks; after treatment, there were 90.5%(201/222) patients with different degrees of scarring in the airways. Cox multiple analysis showed that the risk factor for the disappearance time of airway necrosis was tough tough necrosis ( HR=1.52, 95% CI: 1.10-2.10); the risk factor for the repair time of airway scar stenosis was the disappearance time of airway necrosis 6-9 weeks ( HR=2.73, 95% CI: 1.84-4.05). Conclusions:90.5% of patients with type Ⅱ TBTB developed airway scar stenosis after treatment. The median time for the disappearance of airway necrosis was 6 weeks, and the median time for the repair time of airway scar stenosis was 14 weeks. In the interventional process, attention should be paid to the removal of tough necrosis and the efficiency of necrosis removal to reduce the risk of airway scar stenosis.

Objective:To learn about the genotyping of human Brucella isolated from Sichuan Province. Methods:BCSP31-PCR and AMOS-PCR were used to identify the genus and biotype of the 66 strains isolated from confirmed human brucellosis cases in Sichuan Province from 2014 to 2020, respectively. The isolated strains were genotyped by multi-locus sequence typing (MLST)-9. The sequence type (ST) was compared trough the online MLST database. A minimum spanning tree (MST) was constructed to cluster the newly discovered and known ST using the BioNumerics software version 7.6.Results:The 66 strains isolated from human cases of brucellosis in Sichuan Province from 2014 to 2020 were Brucella, and 65 of them were Brucella melitensis while one strain was Brucella abortus. The MLST method identified three known STs (ST-8, ST-39 and ST-2) and one newly type (ST-101). Among them, ST-8 was the main ST in Sichuan Province (90.91%, 60/66), another 4 strains of Brucella melitensis were ST-39, and 1 strain of Brucella abortus was ST-2. The newly type ST-101 was isolated from Leshan City in 2019, belonging to the Brucella melitensis and closely related to the evolution of ST-8. Conclusion:Brucella melitensis is the main epidemic Brucella strain in Sichuan Province, ST-8 is predominant genotype, with a small amount of ST-39, ST-101 and ST-2.

Objective To explore the clinical characteristics of systemic disseminated infection caused by Mycobacterium fortuitum (M.fortuitum), and improve the diagnostic rate and understanding of the disease.Methods One case of systemic disseminated M.fortuituminfection was reported, and analyzed in combination with relevant literatures.Results Patient was with multiple systemic involvement (including lung, lymph node, skin, joint), lymph node tissue culture was positive for M.fortuitum, patient was given clarithromycin+levofloxacin+linezolid for treatment, disease was remitted.Conclusion Systemic disseminated M.fortuituminfection is rare, and patient with GATA2 deletion and IFN-γautoantibody may be a potential mechanism, diagnosis is mainly based on pathological morphology and microbiological detection, but positive rate is low, diagnosis is difficult.