Objective To study the literatures distribution and research status of the elderly tuberculosis published in the Chinese Medical Association Journals (CMAJ) from 2004-2013 in order to provide literature methodological data for the tuberculosis research.Methods The literatures on the elderly tuberculosis published in 82 kinds of CMAJs from 2004-2013 were classified and analyzed.The publication year,distribution,content,author,institution and region of these literatures were analyzed.Results There were 66 articles about the elderly tuberculosis published in 20 kinds of the Chinese Medical Association Journals.These literatures were published mostly in 2011 (16 articles,24.2％),secondly in 2012 (13 articles,19.6％) and 2010 (7 articles,10.6％),which were published mostly in Chinese Journal of Geriatrics (15 articles,22.7％).The main contents included clinical diagnosis and treatment,epidemiological investigation and drug research.The most published form was treatise (55 articles,83.3 ％).Most of the articles involved in pulmonary tuberculosis (34 articles,51.6 ％).The provinces or cities in which the most articles were published were Beijing (28 articles,42.4％) and Shandong (6 articles,9.1％).There was significantly difference in the article number between 2004-2008 and 2009-2013 (P＜ 0.05).The epidemiology,drug resistance mechanism,influencing factors,clinical characteristics,diagnosis and treatment strategy of the elderly tuberculosis,especially diagnosis and treatment development were well discussed in these literatures.Conclusions The literatures of the elderly tuberculosis published in Chinese Medical Association Journals are insufficient in quantity,with number increases of articles significantly over the past 5 years.Projects supported by the foundation is less and discipline construction should be strengthened.The distributions of authors and the primary population of tuberculosis are different,and early diagnosis and treatment of pulmonary tuberculosis in the elderly are concerned especially.

OBJECTIVETo analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism.

METHODSG-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR).

RESULTSNo abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants (http://projects.tcag.ca/variation/). Therefore, they are likely to be benign. In addition, a -8.44 Mb 9p11.1-p13.1 duplication (38,561,587-47,002,387 bp, hg18) and a -80.9 kb 4q13.2 deletion (70,183,990-70,264,889 bp, hg18) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH.

CONCLUSIONTwo CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism.

Amenorrhea ; diagnosis ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Comparative Genomic Hybridization ; methods ; DNA Copy Number Variations ; genetics ; Female ; Humans ; Hyperandrogenism ; diagnosis ; genetics ; Karyotyping ; Reverse Transcriptase Polymerase Chain Reaction ; Siblings ; Young Adult

Objective:To identify gene variants and investigate clinical features of nonmuscle myosin heavy chain 9-related disease (MYH9-RD).Methods:In this retrospective study, the data of patients with MYH9-RD admitted to Shenzhen Children′s Hospital from July 2017 to September 2020 were extracted. The gene variants, clinical features and laboratory tests results were summarized.Results:Among the 6 children, 4 were males and 2 were females, aged 4.0 (0.5-7.6) years. Main clinical manifestations included thrombocytopenia (6 cases), epistaxis (3 cases), petechias (2 cases), traumatic hematoma (1 case), and abnormal liver enzymes (1 case). One patient had no family history, and the other 5 cases were pedigrees. Two pedigrees (2 cases) had long-term microscopic hematuria, one pedigree (2 cases) had history of early cataract, and three pedigrees (5 cases) had chronic mild elevation of liver enzymes. Four MYH9 gene variants were found in 12 patients, including c.2104C>T(p.R702C) in exon 17, c.4270G>A(p.D1424N) in exon 31, c.5521G>A (p.E1841K) in exon 39, and c.5797C>T (p.R1933X) in exon 41. According to the family pedigrees analysis, except for the case of variant in exon 17 which was spontaneous mutation with no family history, the other variants were from their father or mother. The complete blood count results showed a decreased platelet number in these patients, and the counting results of the automated hematology analyzer were significantly lower than that of manual counting method ((33.4±17.2) × 10? vs. (60.4±21.0) × 10 9/L, t=-5.83, P<0.05). The examination of the peripheral blood smear revealed the presence of thrombocytopenia with giant platelets and granulocyte inclusion bodies. The MYH9 gene variant (R702C) located at the N-terminus head domain of non-muscle myosin heavy chain ⅡA (NMMHC-ⅡA), which has ATPase activity, led to severe reduction of platelet number (<20×10 9/L) and obscure granulocyte inclusion bodies. However, higher platelet numbers (40×10 9-80×10 9/L) and obvious granulocyte inclusion bodies were observed in patients with tail-position mutations at C-terminus. Conclusions:The clinical phenotypes of MYH9-RD were variable. The mutations in certain regions of MYH9 gene were related to platelet count and granulocyte inclusion bodies. MYH9-RD should be considered in individuals with unknown etiology and persistent thrombocytopenia which is non-responsive to conventional treatment, regardless of family history. Complete blood count and blood smear morphology examinations are the first steps to screen and diagnose the disease. The laboratory should pay attention to the morphological review rules and standardized reports.

Coronary heart disease (CHD) has become a major public health issue in China. Gut microbiota has gradually become a CHD research hotspot in terms of auxiliary diagnosis, treatment and prevention targets. Results from multiple studies have shown that gut microbiota dysbiosis may mediate the process of CHD directly or indirectly through their metabolites, and some intestinal probiotics could inhibit the progression of atherosclerosis. The research advances on the related mechanism and their diagnostic efficacy as biomarkers of gut microbiota and metabolites in CHD are reviewed here to provide a reference for current and future clinical application.

Tumor is a major public health problem that seriously threatens human health.Liquid biopsy plays a crucial role in early diagnosis of tumor,guidance of clinical targeted therapy,drug resistance monito-ring and prognosis assessment due to its features of high sensitivity,high specificity and high safety.Circulat-ing tumor RNA(ctRNA),as a member of liquid biopsy,not only carries the genetic information of tumors,but also reflects the transcriptional expression of tumor-related proteins and the regulatory mechanism of re-lated phenotypes.With the deeper understanding of ctRNA,the mechanism of its role in tumors is becoming clearer and clearer,showing good clinical application value,and it will become a trustworthy tool in clinical di-agnosis and treatment of tumors.

Objective:To investigate the mechanism by which Fusobacterium nucleatum ( Fn) infection promotes TNF-α-induced inflammatory changes in colorectal cancer HCT116 cells. Methods:Fn-infected cells and TNF-α inflammation induction models were established and divided into 4 groups, namely uninfected control group, Fn-infected group, TNF-α induction group, and Fn+ TNF-α group. First, Fn was used to infect normal colonic epithelial cells hcoEPIC, colorectal cancer HCT116 and LoVo cells, the cell adhesion was detected 4 h later. Subsequently, HCT116 cells were induced with TNF-α for 3 h and then infected with Fn. After 24 h, the cell survival rate and cell damage were detected by CCK8 experiment and lactate dehydrogenase (LDH) viability assay. The ELISA method was further used to detect the expression of nuclear transcription factor NF-κB and cytokines IL-6, IL-8, and IL-1β in the cell and cell culture supernatant. Results:Fn has strong adhesion to colorectal cancer cells HCT116 and LoVo ( P<0.05), but basically does not show invasion. On the contrary, it has a higher invasion rate to normal colonic epithelial cells hcoEPIC after 24 h. Compared with the uninfected Fn group, the cell survival rate of the Fn-infected group was significantly reduced and the cell damage increased ( P<0.001). Three hours after TNF-α induction, Fn infection further promoted cell death and damage ( P<0.001). The expression of NF-κB in the Fn infection and TNF-α alone treatment group was significantly higher than that of the uninfected group ( P<0.001, P<0.05), and the NF-κB expression in the Fn+ TNF-α group was significantly higher than that of the control group and the single treatment group ( P<0.001). In the Fn infection and TNF-α treatment groups, the expressions of IL-6 and IL-8 were significantly higher than those in the uninfected group ( P<0.001), and IL-1β did not change significantly ( P>0.05). The expressions of IL-6, IL-8 and IL-1β in the Fn+ TNF-α group were significantly higher than those in the normal control group and the single treatment group ( P<0.05). Conclusions:Fusobacterium nucleatum can preferentially adhere to colorectal cancer cell HCT116, further promote TNF-α-induced cell damage and death, the expression and release of NF-κB and its downstream pro-inflammatory cytokines IL-6, IL-8, IL-1β.