The Assessment of TLR1 Gene Polymorphism Association with the Risk of Allergic Rhinitis in the Chinese Han Population from Northern China.

Background: Environmental factors and genetic predisposition can influence the occurrence and development of AR. Toll-like receptor 1 (TLR1) belongs to the TLR receptor family, which plays a fundamental role in the activation of innate immunity. This study aimed to explore the association between TLR1 genetic loci and AR susceptibility in the Han Chinese from northern China. Methods: Genotyping of three SNPs in the TLR1 has proceeded using the Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were used to assess the correlation between candidate SNPs and AR susceptibility. Using FPRP (false-positive report probability analysis) to detect whether the positive results are noteworthy findings. The SNP-SNP interactions were detected by multifactor dimensionality reduction (MDR). Results: TLR1-rs72493538 (Allele "G": OR=0.77, p = 0.034) and -rs76600635 (Allele "G": OR=0.75, p = 0.024) were associated with reducing the risk of AR among Han Chinese in northern China. In addition, we found evidence that TLR1-rs72493538 (males, participants with aging > 43 years, or coming from the wind-blown sand region) and -rs76600635 (males, participants with BMI ≤ 24 kg/m2, or coming from the wind-blown sand region) were associated with AR risk in stratified analyses. FPRP showed that all positive results are noteworthy findings. MDR analysis showed that a two-loci genetic model composed of rs72493538 and rs76600635 can be chosen as the best genetic model to predict the risk of AR. Conclusion: TLR1-rs72493538 and -rs76600635 have a close association with reducing the risk of AR.

Association between polymorphisms of the GSDMB gene and allergic rhinitis risk in the Chinese population: a case-control study.

BACKGROUND: Allergic rhinitis (AR) is a great risk factor for developing asthma, and its pathogenesis is affected by various factors, such as gene and environment. GSDMB is related to allergic diseases. Our purpose is to explore the correlation of single nucleotide polymorphisms (SNPs) in GSDMB and AR risk in the Chinese population. METHODS: We performed a case-control study including 1005 cases and 1004 controls. Rs2305479, rs4795400, and rs12450091 in GSDMB were geneotyped using Agena MassARRAY. The relationships between GSDMB SNPs and AR risk were assessed by logistic regression analysis in PLINK1.9. RESULTS: Our study showed that rs4795400 was a protective factor for AR in overall (TT vs. CC: OR = 0.66, p = 0.009; TT vs. CC/TC: OR = 0.67, p = 0.008; additive: OR = 0.87, p = 0.042 males, people with BMI ≤ 24, and living in wind-blown sand area. Rs2305479 was associated with a reduced AR risk in males (TT vs. CC: OR = 0.47, p = 0.014; TT vs. CC/TC: OR = 0.43, p = 0.004). However, rs12450091 was a risk factor for AR in people living in the loess hilly region (CC: OR = 4.75, p = 0.047). The levels of EO and EO_per in the case group were significantly higher than those in the control group (p < 0.05). CONCLUSION: This study indicated that GSDMB polymorphisms (rs4795400, rs2305479, and rs12450091) were associated with AR susceptibility. Further studies are required to confirm our findings and to clarify the functional relationship.

CRHR1 mediates the transcriptional expression of pituitary hormones and their receptors under hypoxia.

Hypothalamus-pituitary-adrenal (HPA) axis plays critical roles in stress responses under challenging conditions such as hypoxia, via regulating gene expression and integrating activities of hypothalamus-pituitary-targets cells. However, the transcriptional regulatory mechanisms and signaling pathways of hypoxic stress in the pituitary remain to be defined. Here, we report that hypoxia induced dynamic changes in the transcription factors, hormones, and their receptors in the adult rat pituitary. Hypoxia-inducible factors (HIFs), oxidative phosphorylation, and cAMP signaling pathways were all differentially enriched in genes induced by hypoxic stress. In the pituitary gene network, hypoxia activated c-Fos and HIFs with specific pituitary transcription factors (Prop1), targeting the promoters of hormones and their receptors. HIF and its related signaling pathways can be a promising biomarker during acute or constant hypoxia. Hypoxia stimulated the transcription of marker genes for microglia, chemokines, and cytokine receptors of the inflammatory response. Corticotropin-releasing hormone receptor 1 (CRHR1) mediated the transcription of Pomc, Sstr2, and Hif2a, and regulated the function of HPA axis. Together with HIF, c-Fos initiated and modulated dynamic changes in the transcription of hormones and their receptors. The receptors were also implicated in the regulation of functions of target cells in the pituitary network under hypoxic stress. CRHR1 played an integrative role in the hypothalamus-pituitary-target axes. This study provides new evidence for CRHR1 involved changes of hormones, receptors, signaling molecules and pathways in the pituitary induced by hypoxia.

CLEC16A variants conferred a decreased risk to allergic rhinitis in the Chinese population.

Background: Allergic rhinitis (AR) is a chronic respiratory disease. Hereditary factors played a key role in the pathogenesis of the AR. This study investigated the association between CLEC16A variants and AR risk in the Chinese population. Methods: We applied Agena MassARRAY technology platform to genotype five single nucleotide polymorphisms (SNPs) located in CLEC16A in 1004 controls and 995 cases. The association between CLEC16A SNPs (rs2286973, rs887864, rs12935657, rs11645657 and rs36045143) and AR risk were calculated by logistic regression analysis, with odds ratio (OR) and 95% confidence interval (CI). False-positive report probability (FPRP) was also used to assess the significant results to reduce false positives. Multifactor dimensionality reduction (MDR) was completed to assess the interaction between CLEC16A variants to predict AR risk. Results: Totally, CLEC16A (rs887864, rs12935657, rs2286973, rs11645657 and rs36045143) were significantly associated with AR risk. Therein, rs2286973, rs11645657 and rs36045143 were related to a decreased risk of AR in the people ≤ 43 years old, females and the people with BMI≤24, respectively. And rs887864 and rs12935657 were also associated with a decreased susceptibility of AR in the people >43 years old. Meanwhile, in the results of region stratification, rs887864 conferred a reduced risk to AR in the people from loess hilly area. Conclusion: CLEC16A variants conferred a decreased risk to AR in the Chinese population.

Versatile Functions of Somatostatin and Somatostatin Receptors in the Gastrointestinal System.

Somatostatin (SST) and somatostatin receptors (SSTRs) play an important role in the brain and gastrointestinal (GI) system. SST is produced in various organs and cells, and the inhibitory function of somatostatin-containing cells is involved in a range of physiological functions and pathological modifications. The GI system is the largest endocrine organ for digestion and absorption, SST-endocrine cells and neurons in the GI system are a critical effecter to maintain homeostasis via SSTRs 1-5 and co-receptors, while SST-SSTRs are involved in chemo-sensory, mucus, and hormone secretion, motility, inflammation response, itch, and pain via the autocrine, paracrine, endocrine, and exoendocrine pathways. It is also a power inhibitor for tumor cell proliferation, severe inflammation, and post-operation complications, and is a first-line anti-cancer drug in clinical practice. This mini review focuses on the current function of producing SST endocrine cells and local neurons SST-SSTRs in the GI system, discusses new development prognostic markers, phosphate-specific antibodies, and molecular imaging emerging in diagnostics and therapy, and summarizes the mechanism of the SST family in basic research and clinical practice. Understanding of endocrines and neuroendocrines in SST-SSTRs in GI will provide an insight into advanced medicine in basic and clinical research.

A study on the neurodevelopment outcomes of late preterm infants.

BACKGROUND: The study is intended to fill the knowledge gap about the neuropsychology and neuromotor developmental outcomes, and identify the perinatal risk factors for late preterm infants (LPIs 34~36 weeks GA) born with uncomplicated vaginal birth at the age of 24 to 30 months. METHODS: The parents/guardians of 102 late preterm infants and 153 term infants, from 14 community health centers participated in this study. The Modified Checklist for Autism in Toddlers (M-CHAT) questionnaire, the Chinese version of Gesell Development Diagnosis Scale (GDDS), and the Sensory Integration Schedule (SIS), a neurological examination for motor disorders (MD) were carried out. Infants screening positive to the M-CHAT were referred to specialist autism clinics. RESULTS: Forty-six LPIs (45.1%) scored low in GDDS. Nine LPIs (8.8%) scored positive on M-Chat. 8.8% of LPIs (9 out of 102) were diagnosed MD (p <  0.05). Compared with their full-term peers, LPIs had statistically lower scores in GDDS and the Child Sensory Integration Checklist. LPIs who had positive results on M-CHAT showed unbalanced abilities in every part of GDDS. Risk factors of twin pregnancies, pregnancy induced hypertension and premature rupture of membranes had negative correlation with GDDS (all p <  0.05). Birth weight and gestational age were positively correlated with GDDS. CONCLUSIONS: LPIs shall be given special attention as compared to normal deliveries, as they are at increased risk of neurodevelopment impairment, despite being born with no major problems. Some perinatal factors such as twin pregnancies, and pregnancy induced hypertension etc. have negative effects on their neurodevelopment. Regular neurodevelopmental follow- up and early intervention can benefit their long term outcomes.

Analysis of distribution and antibiotic resistance of pathogens isolated from the paediatric population in Shenmu Hospital from 2011-2015.

Objective This study aimed to investigate the epidemiology and changes in antibacterial susceptibility of children in Shenmu City, northern Shaanxi, and provide a basis for rational drug use. Methods The distribution and drug resistance pattern of pathogenic bacteria isolated from children were retrospectively analysed. Results A total of 573 strains of pathogens were cultivated. A total of 201 (35.07%) strains of Gram-positive cocci and 183 (31.93%) strains of Gram-negative cocci were detected. A total of 189 (32.98%) strains of fungi were detected. The resistance rate of Staphylococcus to penicillin was 100% and that to erythromycin was 90.69%. There were varying degrees of resistance to other drugs, but no single strain had vancomycin resistance. Gram-negative bacilli were generally resistant to ampicillin, but had low resistance to the combined preparation of enzyme inhibitors, quinolones, and aminoglycosides, and were highly sensitive to imipenem and meropenem. Conclusion Gram-negative bacilli are the main pathogens of bacterial infection in the paediatric ward. Strengthening clinical monitoring of bacterial distribution in paediatric clinical isolates and understanding changes in drug resistance are important for guiding the rational use of antibiotics. These measures could also prevent emergence and spreading of resistant strains.

Study of the relationship between male erectile dysfunction and type 2 diabetes mellitus/metabolic syndrome and its components.

AIM: To study the relationship between erectile dysfunction and type 2 diabetes mellitus (T2DM)/metabolic syndrome (MetS). METHODS: This prospective study invited male patients with T2DM attending for a routine outpatient check-up to complete two questionnaires. A general questionnaire was used to collect demographic and clinical characteristics, while sexual function was assessed using the International Index of Erectile Function scoring system. The prevalence of MetS in this patient population was determined using information from the general questionnaire. Risk factors for erectile dysfunction were identified using univariate and multivariate logistic regression analyses. RESULTS: A total of 175 patients provided valid questionnaires; of these, 148 (84.6%) had MetS. The prevalence of erectile dysfunction was 90.9% (159/175) in the entire survey population compared with 89.2% (132/148) in patients with MetS. Multivariate logistic regression analysis identified the following risk factors for erectile dysfunction in patients with T2DM and/or MetS: age, blood pressure and duration of diabetes. CONCLUSION: These current findings suggest that the MetS and its components have a negative impact on male erectile function.

Risk factors for erectile dysfunction in patients with cardiovascular disease.

OBJECTIVE: To examine the relationship between risk factors for cardiac disease and erectile dysfunction (ED) in men from Xi'an, China. METHODS: Participants were patients with cardiovascular disease who visited the Cardiovascular Medicine Department of Xi'an Jiaotong University First Affiliated Hospital between September 2011 and March 2012. Two hundred and fifty patients were issued with questionnaires and underwent a physical examination and blood test.Risk factors for ED were identified using univariate and multivariate analyses. RESULTS: In total, 222 participants returned valid questionnaires (89% response rate), underwent a physical examination and blood test, and were included in the study. The most common cardiovascular diseases were hypertension (n = 142; 64%), coronary heart disease (n = 90; 41%) and angina pectoris (n = 78; 35%). Most patients (n = 144; 65%) had two or more cardiovascular diseases. Age, smoking, body mass index, total cholesterol level, hypertension and the ratio of total cholesterol to high-density lipoprotein cholesterol were significantly associated with ED. Domestic location, level of education, participation in physical activity, diabetes and drinking alcohol were not associated with ED. CONCLUSIONS: Common risk factors for cardiovascular disease are associated with ED in patients with cardiovascular disease. This study furthers understanding of the risk factors for ED in Chinese patients with cardiovascular disease and paves the way for further research into the prevention of ED.

Impact of meteorological factors on lower respiratory tract infections in children.

OBJECTIVE: To evaluate retrospectively the relationship between meteorological factors in Shenmu County, Yulin City, Shaanxi Province, China and the incidence of lower respiratory tract infections in children. METHODS: Meteorological data (air temperature, atmospheric pressure, rainfall, hours of sunlight, wind speed and relative humidity) for Shenmu County and medical data from hospitalized patients aged ≤16 years were collected between January 2009 and December 2012. The association between meteorological factors and rate of hospitalization due to lower respiratory tract infections was investigated; the total hospitalization rate was compared with the rate of lower respiratory tract disease-related hospitalizations. RESULTS: The leading bacterial causes of lower respiratory tract infections were Streptococcus pneumoniae and Haemophilus influenzae type B; the main viral cause was respiratory syncytial virus. Lower respiratory tract infection hospitalization rate was significantly correlated with air temperature (R = -0.651), atmospheric pressure (R = 0.560), rainfall (R = -0.614) and relative humidity (R = -0.470), but not with hours of sunlight (R = -0.210) or wind speed (R = 0.258). Using multiple linear regression, lower respiratory tract infection hospitalization rate decreased with a gradual increase in air temperature (F = 38.30) and relative humidity (F = 15.58). CONCLUSION: Air temperature and relative humidity were major influencing meteorological factors for hospital admissions in children due to lower respiratory tract infections.

Effects of pioglitazone mediated activation of PPAR-γ on CIDEC and obesity related changes in mice.

OBJECTIVE: Obesity is a metabolic disorder that can lead to high blood pressure, increased blood cholesterol and triglycerides, insulin resistance, and diabetes mellitus. The aim was to study the effects of pioglitazone mediated sensitization of peroxisome proliferator-activated receptor gamma (PPAR-γ) on the relationship of Cell death-inducing DFFA-like effector C (CIDEC) with obesity related changes in mice. METHODS: Sixty C57B/L6 mice weighing 10-12g at 3 weeks of age were randomly divided into 3 groups. Mice in Group 1 were fed on normal diet (ND) while Group 2 mice were given high fat diet (HFD), and Group 3 mice were given high fat diet and treated with Pioglitazone (HFD+P). Body weight, length and level of blood sugar were measured weekly. Quantitative real-time PCR, fluorescence microscopy, and ELISA were performed to analyze the expression of CIDEC and PPAR-γ in visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT). RESULTS: Body weight and length of mice increased gradually with time in all groups. Blood sugar in HFD mice started to increase significantly from the mid of late phase of obesity while pioglitazone attenuated blood sugar level in HFD+P mice. The mRNA expressions and protein levels of PPAR-γ and CIDEC genes started to increase in HFD mice as compared to ND mice and decreased gradually during the late phase of obesity in VAT. Pioglitazone enhanced the expression of PPAR-γ and CIDEC genes in HFD+P mice even during the late phase of obesity. CONCLUSION: It is insinuated that VAT is associated with late phase obesity CIDEC decrease and insulin resistance, while pioglitazone enhances CIDEC through activation of PPAR-γ, increases its expression, and decreases lipolysis, hence preventing an increase of blood sugar in mice exposed to HFD.

[PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family].

OBJECTIVE: To study the mutation of PMP22 gene of an early-onset family with Charcot-Marie-Tooth disease (CMT) and the genetic features of the disease. METHODS: Two patients with CMT, fifteen unaffected members in the family and 20 healthy controls were enrolled. STR-PCR and gene scanning were used to detect PMP22 duplication mutation. RESULTS: The mutations of PMP22 were found in the two patients and other five unaffected members in the family. The mutations were located in the STR locus D17S921 in 5 cases and in the STR locus D17S4A in 2 cases. The other members in the family and 20 healthy controls did not show the mutations of PMP22. CONCLUSIONS: The gene causing CMT in the family is found in the 17p11.2-p12 region containing PMP22 gene duplication mutation, resulting in the subtype CMT1A.