BACKGROUNDSH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families.

METHODSA total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, EGR2, NEFL, and RAB7. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated.

RESULTSWe identified three novel heterozygous variants such as p.L95V (c.283C>G), p.L1048P (c.3143T>C), and p.V1105M (c.3313G>A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.L1048P, and p.V1105M were considered to be of uncertain significance.

CONCLUSIONSSH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed.

To study the effect of ginseng saponin Rh₂ in inducing apoptosis of human leukemia K562 cells, and explore its mechanism from the aspect of autophagy pathway. CCK-8 assay was used to examine the growth inhibition of human leukemia cell lines K562 treated with ginsenoside Rh₂; flow cytometry (FCM) was used to detect cell apoptosis; Hoechst staining was used to observe the changes of cell morphological apoptosis; Acridine and MDC staining were used to detect the effects of the Rh₂ on autophagy; Western blot and RT-PCR were used to detect the expression levels of the proteins closely associated with autophagy and apoptosis. In order to study the effect of autophagy in proliferation and apoptosis, we used the autophagy inhibitor (3-MA).CCK-8 indicated that Rh₂ at low concentration could effectively inhibit the proliferation of leukemia cellsin dose- and time-dependent manners in K562 cells; FCM indicated that Rh₂ induced apoptosis; Hoechest staining showed that K562 cells had typical apoptotic morphological changes by treated Rh₂; Acridine and MDC staining showed that Rh₂ enhanced the green fluorescence and a large number of acidic autophagy vesicles were present; Western blot and RT-PCR results showed that Rh₂ increased the expression levels of Beclin-1, LC3A, LC3B, activated Caspase-3 and p-p38 in K562 cells; application of autophagy inhibitors(3-MA) could weaken the inhibition effect of Rh₂ on proliferation and induction effect on apoptosis in K562 cells. Ginsenoside Rh₂ inhibited the proliferation and induced apoptosis probably through activating p-p38, and inducing cell autophagy signaling pathway in K562 cells.

OBJECTIVETo determine the risk factors of the pregnant women with early spontaneous abortion in Beijing.

METHODSA total of 34,417 cases of pregnant women were participated in the survey from January 2000 to December 2013. A questionnaire was informed to each woman. The content of questionnaire includes four parts: general condition, obstetrical history, past history and family history, and living environment and habits. The mental condition was evaluated with Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS).

RESULTSA total of 32,296 questionnaires were collected. The spontaneous abortion rate in the total sample was 3.0%. There was no significant difference between the normal pregnancy group and spontaneous abortion group in terms of general condition, obstetrical and past history (P>0.05). Significant differences between the two groups were found in terms of decoration during pregnancy, keeping pets, near mobile communication base station within 100 m around the residence, drinking during pregnancy, having a cold during pregnancy and SAS (P<0.05). Having a cold during pregnancy, decoration during pregnancy, near mobile communication base station within 100 m around the residence, keeping pets and high SAS were determined the independent risk factors of spontaneous abortion by Logistic regression analysis.

CONCLUSIONSHaving a cold during pregnancy, decoration, keeping pets, near mobile communication base station within 100 m around the residence and high SAS are the independent risk factors of spontaneous abortion in Beijing.

BACKGROUNDThe pregnancy outcome of the unicornuate uterus is associated with an increased risk of miscarriage, cervical incompetence, and a number of obstetric complications. However, at present, there is no accepted treatment method for women with unicornuate uterus, other than expectant measures. The aim of this study was to evaluate the reproductive outcome of transcervical uterine incision (TCUI) in patients with unicornuate uterus.

METHODSThirty-three patients with unicornuate uterus presented to our tertiary center for infertility or miscarriage. All 33 patients underwent TCUI and were followed up for 10-52 months. The pregnancy outcomes ( first-trimester miscarriage, second-trimester miscarriage, preterm, term, intrauterine death, ongoing pregnancy, and live birth) before and after TCUI were compared by t- test.

RESULTSAmong 31 patients who attempted to conceive after TCUI, twenty conceived including one termination of pregnancy, one second-trimester miscarriage, one ectopic pregnancy, five preterm deliveries, 11 term delivery, and one ongoing pregnancy. There were 16 live births in total. There was significant reduction in the first-trimester miscarriage rate (t = 4.890; P< 0.001), increase in term delivery (t = -3.288; P = 0.002), and live birth rates (t = -4.073; P< 0.001) after TCUI.

CONCLUSIONTCUI appeared to improve the pregnancy outcome in women with unicornuate uterus presenting with infertility or miscarriage.

Adult ; Female ; Humans ; Hysteroscopy ; Pregnancy ; Pregnancy Complications ; surgery ; Pregnancy Outcome ; Urogenital Abnormalities ; surgery ; Uterus ; abnormalities ; surgery

For a long period, studies about the modulating effect of high-density lipoprotein (HDL) on inflammatory cells mainly focus on cardiovascular diseases. In recent years, researchers have found the significant role of HDL in many other fields, such as diabetes, metabolic syndrome, chronic kidney disease, systemic inflammatory disease, autoimmune diseases and infectious diseases. Researches have shown that HDL can inhibit the function of activated neutrophil via disturbing the cytokine production, deformation, adhesion, transmigration and pathogen elimination. Clinical trials have discovered that serum HDL level is negatively correlated with neutrophil-to-lymphocyte ratio in healthy males with low HDL level. In addition, serum HDL level is closely associated with disease severity of severe acute pancreatitis. Consequently, understanding the effect and mechanism of the regulation of HDL on neutrophil function plays an important role in remedying the diseases resulted from excessively activated neutrophil.

BACKGROUNDGlobally, the proportion of child deaths that occur in the neonatal period remains a high level of 37-41%. Differences of cause in neonate death exist in different regions as well as in different economic development countries. The specific aim of this study was to investigate the causes, characteristics, and differences of death in neonates during hospitalization in the tertiary Neonatal Intensive Care Unit (NICU) of China.

METHODSAll the dead neonates admitted to 26 NICUs were included between January l, 2011, and December 31, 2011. All the data were collected retrospectively from clinical records by a designed questionnaire. Data collected from each NICU were delivered to the leading institution where the results were analyzed.

RESULTSA total of 744 newborns died during the 1-year survey, accounting for 1.2% of all the neonates admitted to 26 NICUs and 37.6% of all the deaths in children under 5 years of age in these hospitals. Preterm neonate death accounted for 59.3% of all the death. The leading causes of death in preterm and term infants were pulmonary disease and infection, respectively. In early neonate period, pulmonary diseases (56.5%) occupied the largest proportion of preterm deaths while infection (27%) and neurologic diseases (22%) were the two main causes of term deaths. In late neonate period, infection was the leading cause of both preterm and term neonate deaths. About two-thirds of neonate death occurred after medical care withdrawal. Of the cases who might survive if receiving continuing treatment, parents' concern about the long-term outcomes was the main reason of medical care withdrawal.

CONCLUSIONSNeonate death still accounts for a high proportion of all the deaths in children under 5 years of age. Our study showed the majority of neonate death occurred in preterm infants. Cause of death varied with the age of death and gestational age. Accurate and prompt evaluation of the long-term outcomes should be carried out to guide the critical decision.

Cause of Death ; China ; Female ; Hospital Mortality ; Humans ; Infant ; Infant Mortality ; Infant, Newborn ; Infant, Newborn, Diseases ; mortality ; Intensive Care Units, Neonatal ; statistics & numerical data ; Male ; Perinatal Death ; Retrospective Studies

OBJECTIVETo investigate the effect of intermittent fasting on metabolize and gut microbiota in obese presenium rats fed with high-fat-sugar-diet.

METHODSWe fed the Wistar rats with high-fat and high-sugar diet to induce adiposity, and the rats for intermittent fasting were selected base on their body weight. The rats were subjected to fasting for 72 h every 2 weeks for 18 weeks. OGTT test was performed and fasting blood samples and fecal samples were collected for measurement of TC, TG, HDL-C and LDL-C and sequence analysis of fecal 16S rRNA V4 tags using Illumina. Gut microbial community structure was analyzed with QIIME and LEfSe.

RESULTSAfter the intervention, the body weight of the fasting rats was significantly lower than that in high-fat diet group (P<0.01). OGTT results suggested impairment of sugar tolerance in the fasting group, which showed a significantly larger AUC than compared with the high-fat diet group (P<0.05). Intermittent fasting significantly reduced blood HDL-C and LDL-C levels (P<0.05) and partially restored liver steatosis, and improved the gut microbiota by increasing the abundance of YS2, RF32 and Helicobacteraceae and reducing Lactobacillus, Roseburia, Erysipelotrichaceae and Ralstonia. Bradyrhizobiaceae was found to be positively correlated with CHOL and HDL-C, and RF39 was inversely correlated with the weight of the rats.

CONCLUSIONIntermittent fasting can decrease the body weight and blood lipid levels and restore normal gut microbiota but can cause impairment of glucose metabolism in obese presenium rats.

Animals ; Body Weight ; Diet, High-Fat ; Fasting ; Fatty Liver ; microbiology ; physiopathology ; Gastrointestinal Microbiome ; Lipids ; blood ; Obesity ; microbiology ; physiopathology ; RNA, Ribosomal, 16S ; Rats ; Rats, Wistar

OBJECTIVETo explore possible mechanism of electroacupuncture (EA) for regulating immune function in anxiety disorder (AD) rats by observing the effect of acupuncture on the histology of thymus and expressions of atrial natriuretic peptide (ANP) and natriuretic peptide receptor type A (NPR- A) in thymus.

METHODSTotally 34 SD healthy rats were randomly divided into the blank control group (n = 10), the model group (n = 12), the EA group (n = 12). Anxiety model was established in rats of the model group and the EA group by using chronic unpredictable stress (CUS) stimulation. EA (15/25 Hz) at Neiguan (PC6) and Shenmen (HT7) was performed in the EA group, with 15-min needle retaining, once every other day, 15 days in total. Needle was fixed at same acupoints for 15 min without electric stimulus in the other two groups. Anxiety-like behavior was measured by elevated plus-maze (EPM) test. Pathological changes of thymus tissue were observed by optical microscope. Expressions of ANP and NPR-A in thymus were measured by immunohistochemical assay.

RESULTSThe thymus tissue in the model group was severely atrophied, with unclear structure of thymic lobules, unclear margin of thymic medulla, loosely arranged lymphocytes ,and obviously enlarged volume of thymic corpuscle. The thymus tissue in the EA group was mildly atrophied, with existent structure of thymic lobules, clear margin of thymic medulla, densely arranged lymphocytes in cortical region, and widened medullary area. Com- pared with the blank control group, the percentage of open-arms entries (OE%) in the total QE times ob- viously decreased in the model group (P < 0.05), ANP expression obviously increased (P < 0.05), and NPR-A expression obviously decreased (P < 0.01). Compared with the model group, OE% was obviously elevated (P < 0.05), ANP expression obviously decreased (P < 0.05), and NPR-A expression obviously increased (P < 0.01) in the EA group.

CONCLUSIONEA not only could reduce anxiety of rats, but also could improve chronic stress induced thymus injury through intervening synthesis and secretion of ANP, as well as the expression of NPR-A (a specific receptor of ANP).

Acupuncture Points ; Animals ; Anxiety Disorders ; therapy ; Atrial Natriuretic Factor ; metabolism ; Electroacupuncture ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Receptors, Atrial Natriuretic Factor ; metabolism ; Thymus Gland ; pathology

OBJECTIVETo analyze the distribution of trimethylamine N-oxide (TMAO) in healthy adults with different risk factors and explore its association with gut microbiota.

METHODSWe collected fasting blood samples and fresh fecal samples from 181 subjects without atherogenesis in the carotid arteries. Plasma TMAO levels of the subjects were determined using stable isotope dilution liquid chromatography-tandem mass spectrometry (LC-MS). The fecal DNA was extracted, and the 16S rRNA V4 tags were amplified and sequenced by Illumina HiSeq 2000. The association between TMAO and classical cardiovascular risk factors were analyzed. Gut microbial community structure was analyzed with QIIME, and LEfSe was used to identify the biomarkers.

RESULTSThe median (IQR) TMAO level was 2.66 (1.96-4.91) µmol/L in the subjects. TMAO level was significantly correlated with body mass index and operational taxonomic units (OTU). Individuals with high TMAO levels were found to have abundant Clostridiales, Phascolarctobacterium, Oscillibacter, and Alistipes but less abundant Anaerosprobacter.

CONCLUSIONChinese subjects have in general low levels of TMAO. TMAO levels are not significantly correlated with the classical cardiovascular risk factors or the gut microbial structures.

Adult ; Atherosclerosis ; Bacteria ; isolation & purification ; Biomarkers ; blood ; Cardiovascular Diseases ; blood ; Chromatography, Liquid ; Gastrointestinal Microbiome ; Humans ; Methylamines ; blood ; RNA, Ribosomal, 16S ; isolation & purification ; Risk Factors ; Tandem Mass Spectrometry

OBJECTIVETo investigate the expression of Yin Yang 1 (YY1) protein in human insulinoma and explore its clinical significance.

METHODSNineteen pancreatic neuroendocrine tumor tissue were collected from patients treated in Nanfang Hospital between 2000 and 2014. The protein expression of YY1 in benign and malignant insulinoma tissues were detected by immunohistochemistry.

RESULTSPositive expression for YY1 protein was detected in both benign and malignant tumor tissues, but the malignant tissues had a significantly greater intensity of YY1 expression than the benign tissues (P=0.042). The intensity of YY1 expression was positively correlated with the nature of the tumor, and the insulinomas with high expressions of YY1 had significantly greater malignant potentials (P=0.037).

CONCLUSIONThe high expression of YY1 protein is associated with the development of insulinima. YY1 may serve as a new tumor marker for detecting the malignant transformation of insulinoma.

Biomarkers, Tumor ; metabolism ; Cell Transformation, Neoplastic ; Humans ; Immunohistochemistry ; Insulinoma ; genetics ; metabolism ; Pancreatic Neoplasms ; genetics ; metabolism ; YY1 Transcription Factor ; genetics ; metabolism