Objective To explore the prognostic significance in monitoring minimal residual disease (MRD) in childhood acute lymphoblastic leukemia (ALL) by a simple method,and to detect cloned immunoglobulin H (IgH) and T cell receptor γ (TCRγ) gene rearrangements by using multiplex polymerase chain reaction (PCR) and automated fragment analysis.Methods Bone marrow samples were collected from 86 newly diagnosed cases of childhood ALL at the Department of Pediatrics,the First Affiliated Hospital of Sun Yat-Sen University,from May of 2009 to August of 2013.IgH and TCRγ gene rearrangements were amplified by qualitative multiplex PCR.The clonality of PCR production was analyzed by GENEMAPPERID software.Only those carried monoclonal IgH/TCRγ on diagnosis were arranged to monitor MRD.Detectable monoclonal IgH/TCRγby the end of induction was defined as MRD positive.All patients were treated with GD2008 ALL protocol.Clinical data of all newly-diagnosed ALL patients in the corresponding period were reviewed.The final follow-up on May 31,2014.Survival rates and event free survival (EFS) curves were estimated by the Kaplan-Meier,and compared by using the log-rank test.Results The percent age of 94.2 (81/86 cases) patients was at least 1 marker positive.Subsequent MRD was monitored in 79 cases.The median follow-up time was 20 months (9-61 months).By the end of induction,20 cases were MRD positive and 59 cases were M RD negative,and the 3-year EFS were 56.4％ ± 14.7％ and 94.0％ ± 3.4％ (x2 =8.563,P =0.003),respectively.According to the traditional prognostic stratification criteria,MRD was detected 65 cases in the non-high risk group:23 cases in standard risk group and 42 cases in intermediate risk group,and the difference of 3-year EFS had no statistical significance (95.3％ ±4.7％ vs 76.6％ ±9.0％,x2 =0.934,P =0.334).While using MRD by the end of induction as a risk stratification criterion,there was a statistical significant difference compared with the 3-year EFS for MRD-negative (n =52) group and MRD-positive (n =13) group (93.1％ ± 3.8％ and 59.5％ ± 16.2％,x2 =7.128,P =0.008).Conclusions It is a simple but feasible method to monitor MRD in childhood ALL by using this qualitative multiplex PCR with automated fragment analysis for monoclonal IgH/TCRγ gene rearrangements.MRD by the end of induction can be used as a more accurate risk stratification criterion than the traditional one.It is worth of further research.

Alzheimer's disease (AD) is characterized byβ-amyloid (Aβ) deposition and tauprotein hyperphosphorylation, whereas its pathogenesis has not been fully known so far. The metabolism of Aβand tau protein is critically affected by autophagy. In the early phase of AD, Aβand tau protein can induce themselves to be eliminated via mTOR-dependent and independent autophagy pathways. In addition, transcription factors EB and apolipoprotein E4 also regulate autophagy and thus participate in the metabolism of Aβand tau protein, affecting AD progression. This review summarized the roles of autophagy in the metabolism of Aβand tau protein and the autophagy regulators closely related to AD in the recent studies.

OBJECTIVE: To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity. METHODS: Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results. RESULTS: NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation. CONCLUSION A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
Brachydactyly ; complications ; DNA Mutational Analysis ; Humans ; Mutation ; Obesity ; complications ; Pedigree

Objective:Analysis of clustering characteristics of coronavirus disease 2019 (COVID-19) in Guangdong Province.Methods:The COVID-19 cases in Guangdong Province onset from January 1 to February 29, 2020 were collected from Chinese information system for disease control and prevention and Emergency Public Reporting System. Obtain the epidemiological survey data of the cluster epidemic situation, and clarify the scale of cluster epidemic situation, the characteristics of the index cases, family and non-family subsequent cases. Calculate serial interval according to the onset time of the index cases and subsequent cases, secondary attack rate based on the close contacts tracking results, the characteristics of different cases in the clustered epidemic were compared.Results:A total of 283 cluster were collected, including 633 index cases, 239 subsequent cases. Families are mainly clustered, the total number involved in each cluster is in the range of 2-27, M( P25, P75) are 2.0 (2.0, 4.0). During January 15 to February 29, the secondary attack rate is 2.86% (239/8 363) in Guangdong Province, the family secondary attack rate was 4.84% (276/3 697), and the non-family secondary attack rate was 1.32% (61/4 632). According to the reporting trend of the number of cases in Guangdong Province, it can be divided into four stages, the rising stage, the high platform stage, the descending stage and the low level fluctuation period. The secondary attack rate of the four stages were 3.5% (140/3 987), 2.3% (55/2 399), 2.6% (37/1 435), 1.3% (7/542), respectively. The difference was statistically significant ( P=0.003). Conclusion:COVID-19 cluster mainly occurs in families in Guangdong Province. The scale of the clustered epidemic was small; the serial interval was short; and the overall secondary attack rate was low.

Objective:Analysis of clustering characteristics of coronavirus disease 2019 (COVID-19) in Guangdong Province.Methods:The COVID-19 cases in Guangdong Province onset from January 1 to February 29, 2020 were collected from Chinese information system for disease control and prevention and Emergency Public Reporting System. Obtain the epidemiological survey data of the cluster epidemic situation, and clarify the scale of cluster epidemic situation, the characteristics of the index cases, family and non-family subsequent cases. Calculate serial interval according to the onset time of the index cases and subsequent cases, secondary attack rate based on the close contacts tracking results, the characteristics of different cases in the clustered epidemic were compared.Results:A total of 283 cluster were collected, including 633 index cases, 239 subsequent cases. Families are mainly clustered, the total number involved in each cluster is in the range of 2-27, M( P25, P75) are 2.0 (2.0, 4.0). During January 15 to February 29, the secondary attack rate is 2.86% (239/8 363) in Guangdong Province, the family secondary attack rate was 4.84% (276/3 697), and the non-family secondary attack rate was 1.32% (61/4 632). According to the reporting trend of the number of cases in Guangdong Province, it can be divided into four stages, the rising stage, the high platform stage, the descending stage and the low level fluctuation period. The secondary attack rate of the four stages were 3.5% (140/3 987), 2.3% (55/2 399), 2.6% (37/1 435), 1.3% (7/542), respectively. The difference was statistically significant ( P=0.003). Conclusion:COVID-19 cluster mainly occurs in families in Guangdong Province. The scale of the clustered epidemic was small; the serial interval was short; and the overall secondary attack rate was low.