Objective To explore the mutation of Y-STR loci in meiotic allelic transmission in a large pedigree. Methods The oral swabs of 163 male individuals were collected froma L in pedigree. Twenty-two Y-STR genetic markers were typed with AGCUY 24 fluorescent detection kit (AGCUY 24 sys-tem), which also contained 16 Y-STR markers included in Y filerTmmultiple amplification kit (Y filer system). The genotyping results of Y-STR loci were compared between each two males in the pedigree. Results There were 20 and 30 kinds of haplotypes obtained with Y filer and AGCUY 24 systems in 163 male individuals fromthe L in pedigree, respectively. The rates referred to haplotype differences (RRHD) of these two typing systems between male pairs were 0.910 5 and 0.922 7, respectively. The average number of marker differences were 6.582 1 and 9.824 8, respectively. The RRHDincreased along with the incidents of meiosis. Conclusion Y-STR mutation leads to different Y-STR haplotypes among the male members in a paternal pedigree and the rate of difference increases along with the incidents of meiosis.

The incidence rate of thyroid cancer and thyroid nodule in China are rising and surgical operation is the main treatment for thyroid nodule and thyroid carcinoma.It has been controversial whether thyroid surgery is suitable for day surgery.Perfect preoperative examination and anesthesia assessment,selection of an appropriate of patients and minimally invasive surgery,good postoperative analgesia and the prevention and treatment of postoperative nausea and vomiting,recognition and treatment of postoperative complications timely,postoperative follow-up,can ensure safety of patient with thyroid ambulatory surgery,and made the same medical quality as the surgery in hospital.Under certain criteria,thyroid ambulatory surgery is safety,high efficient,economy and time-efficient.It is a reasonable surgical management mode which can reduce days of hospitalization and hospitalization cost.But it still need further study on the inclusion and exclusion criteria of patients,anesthesia techniques and perioperative management.

Objective:To investigate the clinical features of patients with Langerhans cell histiocytosis (LCH), and analyze the association between BRAF V600E mutation status and clinical features. Methods:A retrospective analysis was carried out for the clinical data of 60 patients with LCH at the Department of Pediatric Oncology, Sun Yat-sen Memorial Hospital between April 2013 and December 2019.Among them, 39 patients undertook BRAF V600E mutation testing, which in paraffin-embedded tissue samples were detected by quantitative real-time PCR (qRT-PCR), and in peripheral blood and/or bone marrow were tested by high-throughput sequencing, for analyzing the correlation between BRAF V600E mutation and clinical characteristics of LCH. Results:(1)Clinical characteristics: the age of 60 LCH patients was (4.08±0.45) years, with 43 male cases and 17 female cases.Patients at young age (≤2 years) and with risk organ (RO+ ) and central nervous system (CNS) risk lesions involvement were concentrated in the multisystem involvement (MS) group ( P<0.05). (2)Therapeutic response after induction therapy: the response to induction therapy was achieved in 28 of 60 treated patients (41.7%) and 32 (53.3%) did not.After excluding stratification factors of treatment regimen, MS ( OR=6.855, 95% CI: 2.077-22.622, P=0.002) and the age≤2 years ( OR=4.944; 95% CI: 1.601-15.275; P=0.005) were risk factors in poor chemotherapy response.RO+ ( OR=8.250, 95% CI: 1.617-42.090, P=0.005) was a significant risk factor for a poor chemotherapy response in JLSG-02 treatment group.Differently, RO+ had no dramatic effect on chemotherapy response in CCHG-LCH-2019 treatment group.(3) BRAF V600E mutation: 39 patients were determined BRAF V600E status, with the positive rate of BRAF V600E mutation in paraffin-embedded tissue samples reaching 70.3%(26 cases). BRAF V600E mutation was not associated with early treatment response, age, sex, MS and RO+ ( P>0.05). However, the positive rate of BRAF V600E in children with MS and CNS risk lesions was higher than the controls, with 76.0% (19 cases) vs.57.1% (8 cases) and 74.1% (20 cases) vs.58.3% (7 cases), respectively.Totally, 3 of 8 cases were positive in bone marrow, with 2 cases of MS, and 1 case of multiple bone invasions, and 1 of 5 cases was positive in peripheral blood, with liver and spleen being involved. Conclusions:LCH patients with age≤2 years, MS and RO+ exhibited a poor response to initial treatment, required for more aggressive treatment strategy.Lesion with activating BRAF V600E mutations suggests that LCH is a clonal disorder.There may be great variability between BRAF V600E mutations and MS as well as CNS risk lesions.In the mutation dataset, part of patients had positive BRAF V600E mutations in bone marrow/peripheral blood.This might suggest a different pathogenesis in such patients, has a certain clinical sense in some aspect.

To explore whether Wnt3a exerts a role in neuropathic pain through Jumonji C domain 6 (JMJD6)-associated epigenetic modification. 
 Methods: SD rats were divided into 4 groups: A sham group, a chronic constriction injury (CCI) group, a CCI+negative lentiviral expression vector (LV-NC) group and a CCI+lentiviral overexpression vector (LV-JMJD6) group. The sciatic nerve CCI model of SD rat and JMJD6 lentiviral expression vector were constructed. On the third day after CCI, the intrathecal catheter was prepared, and 20 μL of normal saline and lentivirus-containing reagent (virus titer 1×108 TU/mL) were administered. The rats' paw withdrawal mechanical threshold (PWMT) and paw withdrawal thermal latency (PWTL) were monitored, and Western blotting was used to detect the expression of Wnt3a and NR2B protein in the spinal cord. Co-immunoprecipitation was applied to detect the interaction between JMJD6 and Wnt3a.
 Results: Compared with the sham group, the PWMT of the rats in each group after CCI was significantly decreased and the PWTL was significantly shortened (P<0.05). Compared with the CCI group and the CCI+LV-NC group, PWMT in the CCI+LV-JMJD6 group was increased significantly on the 10th day and the 14th day after CCI, and the PWTL was significantly prolonged on the 14th day after CCI (P<0.05). On the 14th day after CCI, the expression levels of Wnt3a and NR2B in the CCI group and the CCI+LV-NC group were significantly higher than those in the sham group. After intrathecal injection of lentiviral vector, Wnt3a and NR2B protein expression levels in the CCI+LV-JMJD6 group were lower compared with the CCI+LV-NC group (P<0.05). The results of co-immunoprecipitation showed no direct interaction between Wnt3a and JMJD6.
 Conclusion: Wnt3a is involved in mediating neuropathic pain, and its effect may be related to the epigenetic modification of JMJD6, which is likely regulated through indirect interaction.
Animals ; Injections, Spinal ; Neuralgia ; Rats ; Rats, Sprague-Dawley ; Signal Transduction ; Spinal Cord ; Wnt3A Protein

Objective:To investigate the rates of low disease activity and clinical remission in patients with systemic lupus erythematosus(SLE)in a real-world setting,and to analyze the related factors of low disease activity and clinical remission.Methods:One thousand patients with SLE were enrolled from 11 teaching hospitals.Demographic,clinical and laboratory data,as well as treatment regimes were collec-ted by self-completed questionnaire.The rates of low disease activity and remission were calculated based on the lupus low disease activity state(LLDAS)and definitions of remission in SLE(DORIS).Charac-teristics of patients with LLDAS and DORIS were analyzed.Multivariate Logistic regression analysis was used to evaluate the related factors of LLDAS and DORIS remission.Results:20.7％of patients met the criteria of LLDAS,while 10.4％of patients achieved remission defined by DORIS.Patients who met LLDAS or DORIS remission had significantly higher proportion of patients with high income and longer disease duration,compared with non-remission group.Moreover,the rates of anemia,creatinine eleva-tion,increased erythrocyte sedimentation rate(ESR)and hypoalbuminemia was significantly lower in the LLDAS or DORIS group than in the non-remission group.Patients who received hydroxychloroquine for more than 12 months or immunosuppressant therapy for no less than 6 months earned higher rates of LLDAS and DORIS remission.The results of Logistic regression analysis showed that increased ESR,positive anti-dsDNA antibodies,low level of complement(C3 and C4),proteinuria,low household in-come were negatively related with LLDAS and DORIS remission.However,hydroxychloroquine usage for longer than 12 months were positively related with LLDAS and DORIS remission.Conclusion:LLDAS and DORIS remission of SLE patients remain to be improved.Treatment-to-target strategy and standar-dized application of hydroxychloroquine and immunosuppressants in SLE are recommended.