Objective : To learn the regulatory effect of Lactobacillus plantarum JX025073.1 on intestinal flora and blood lipid in mice, so as to provide the basis for the nutritional intervention of probiotics in hyperlipidemia population. Methods : Thirty male ICR mice were randomly divided into a control group, a model group and a intervention group. The mice in the control group were fed with basic diet, and in the other two groups were fed with high fat diet. The mice in the intervention group was given 0.4 mL of Lactobacillus plantarum JX025073.1 fermentation liquid by gavage every day, and in the other two groups were given 0.4 mL of normal saline. The body weight of mice, the mass of heart, liver, spleen and kidney organs were weighed, and the organ index was calculated. The contents of total cholesterol (TC), triacylglycerol/triglyceride ( TG ), low density lipoprotein cholesterol ( LDL-C ) in serum, TC, TG in liver and in feces were determined by biochemical analyzer. Bifidobacterium, Lactobacillus and Escherichia coli in feces were cultured and counted. Results : After 42 days, compared with the control group, The mice in the model group had higher body weights, higher levels of TC, TG and LDL-C in serum, higher levels of TC, TG in liver and in feces, more Escherichia coli, less Bifidobacterium and less Lactobacillus ( P<0.05 ). Compared with the model group, the mice in the intervention group had lower body weight, lower levels of TC, TG and LDL-C in serum, lower levels of TC in liver, less Escherichia coli, higher levels of TC in feces, more Bifidobacterium and more Lactobacillus ( P<0.05 ). Conclusion Lactobacillus plantarum JX025073.1 can effectively regulate the blood lipid and intestinal flora of mice fed with high fat diet.

Gastric cancer, a common malignant tumor in digestive system with high morbidity as well as mortality rate, is insidious at the onset and lack of effective treatments so far. A growing number of studies have shown that exosome-derived miRNAs play an important role in the occurrence and development of gastric cancer. Autocrine exosome miRNAs from gastric cancer cells regulated tumor growth, recurrence, metastasis and drug resistance, etc. Moreover, exosomal miRNAs in the tumor microenvironment can be delivered into cancer cells to facilitate intercellular communication, thus affecting the progress of gastric cancer. Due to exosomes, which were released into circulation from tumor cells, contain abundant, specific and stable miRNAs, exosome-derived miRNAs have a great potential to be used as novel diagnosis biomarkers and treatment targets of gastric cancer.(Chin J Lab Med, 2018, 41: 499-502)

OBJECTIVE: To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT). METHODS: Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls. RESULTS: The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing. CONCLUSION CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.
Aneuploidy ; Chromosome Aberrations ; Chromosomes ; DNA Copy Number Variations ; Edema ; Female ; Fetus ; Humans ; Lymphangioma, Cystic ; Microarray Analysis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

Objective: To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT). Methods: Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT(168 cases), increased NT with cystic hygroma(20 cases), increased NT with edema(12 cases) or increased NT with other abnormalities(47 cases). All couples were followed up by telephone calls. Results: The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants(CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43)of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing. Conclusion CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.

  Objective  This study aimed at describing the frequency of rare variants of monogenic cerebral small vessel diseases (CSVD) in a cohort of patients with CSVD, and to explore its clinical relevance.  Methods  This study included CSVD patients visiting the Neurology Department of Peking Union Medical College Hospital(PUMCH) from March 2017 to January 2022, collecting their demographic and clinical information and DNA samples for whole-exome sequencing. Descriptive analysis and statistical analysis were conducted exploring the differences between monogenic CSVD-related gene mutation carriers and noncarriers.  Results  A total of 292 patients were included, 51.03% of whom carried one or more rare variants of monogenic CSVD-related genes. The most common rare low-frequency variants were located in the NOTCH3 gene (70 patients, 23.97%), followed by HTRA1 and COL4A1/COL4A2 (22 patients, 7.53%) respectively. Among the subgroup of patients without a family history of stroke (n=176), the frequency of rare variants was as high as 47.16%. Compared with non-carriers, the carriers were diagnosed at a younger age (58.76±13.71 vs. 63.46±13.21, P=0.003). No difference was found in phenotypes among single-SNP carriers, multiple-SNPs carriers, and noncarriers.  Conclusions  The frequency of rare mutation of monogenic CSVD-related genes were relatively high in Chinese CSVD cohort. The most common rare variant was within the NOTCH3, followed by HTRA1 and COL4A1/COL4A2 genes. For CSVD patients of unknown causes, genetic screening should not be neglected even if there is not a family history of the disease.