[A study on the dual use of e-cigarettes and cigarettes among adolescents in Shandong Province].

Objective: To understand the current status and its associated factors of dual use of e-cigarettes and cigarettes among adolescents in Shandong Province and explore the reasons for dual use behavior. Methods: A self-administered survey was conducted among 7 999 middle school students who were selected by stratified multi-stage cluster sample method. Data were weighted and analyzed by the SPSS 25.0 complex program. Results: In Shandong Province, the prevalence rates of attempting and current dual use of e-cigarettes and cigarettes among adolescents appeared as 7.7% and 1.3%, respectively. Male, friends smoking, and secondhand smoke exposure in the past 7 days were risk factors for dual use. Compared with cigarette smokers, dual users have no differences in cognition and behavior in quitting smoking (P>0.05). The main reason for dual users to smoke e-cigarettes was curiosity. Conclusions: Dual use of e-cigarettes and cigarettes is common among adolescents in Shandong Province, and its influencing factors are similar to traditional cigarettes. Dual use is not a transitional stage for smoking cessation. Dual users are more likely to continue smoking in the future, which should be paid attention and concern.

[Investigation and analysis of acute poisoning of organic fluorine mixed gas in a fluorine polymerization plant].

In January 2021, an acute chemical poisoning incident occurred at a fluorine polymerization plant. Through the analysis of the occupational health situation of the enterprise, combined with the clinical manifestations of the poisoned patients and the laboratory examination results, it was determined that the incident was an acute poisoning incident caused by the inhalation of organic fluorine mixed gas in the fluorine polymerization plant. Subsequently, it was clarified that the accident was caused by the illegal operation of the employees of the fluorine polymerization plant, which caused the discharge of the organic fluorine mixed gas containing high concentration of octafluoroisobutene, resulting in the poisoning of the on-site construction personnel. In order to avoid the occurrence of similar incidents, enterprises should implement the main responsibility of safety production, regularly organize supervision and inspection, eliminate illegal operations, conduct safety education and training for the staff of the unit and outsourced staff, and improve the emergency rescue ability of sudden poisoning incidents.

[The imaging presentations of the fallopian canal cerebrospinal fluid leaking].

Objective: To summarize the imaging presentations of the fallopian canal cerebrospinal fluid leaking (FCCFL). Methods: The high resolution CT (HRCT)and MRI materials of 4 patients (4 ears) with FCCFL confirmed by surgery between August 2016 to November 2023 were retrospectively analyzed. Among these, there were 2 males and 2 females, their ages ranged from 6 to 69 years. Results: All of the FCCFL were unilateral, including 2 on the left and 2 on the right.Clinically, the patients with FCCFL suffered from clear nasal fluid flow, ear tightness, and hearing loss. On CT, all of the affected ears were depicted markedly dilatation of the proximal portion of fallopian canal(FC), the labyrinthine segment and geniculate fossa were involved in 4 cases, and involvement of tympanic segment in 1 case at the same time. The geniculate fossa in the affected side were significantly enlarged, protruding upwards into the tympanic cavity, with one case simultaneously involving the cochlea. On MRI, the hyposignal on T1WI and hypersignal on T2WI or water sequence like cerebrospinal fluid (CSF) were shown in the enlargement FC, without diffusion restriction, and non-enhancing with administration Gadolinium contrast.CSF-like signal effusion was shown in all of the affected tympanum, of which, the CSF-like signal effusion was demonstrated in the area along the superficial petrosal nerve, the right pterygopalatine fossa and the parapharyngeal space. The adjacent intracranial meninges were presented thickening in 3 cases. Conclusion: The imaging appearances of FCCFL present some characteristics:on HRCT, the proximal portions of the affected FC depicts markedly enlargement,especially the geniculate fossa.While they present CSF-like signal, no diffusion restriction, and no enhancement administration, Gadolinium contrast on MRI, accompanying the CSF-like signal effusion in the affected tympanum.

[Research progress on the preventive and therapeutic effects of exercise on gestational diabetes mellitus].

Gestational diabetes mellitus (GDM) is one of the most common complications of pregnancy, which poses a serious health risk to mothers and infants. In recent years, many studies have revealed the important role of exercise in preventing GDM, regulating blood glucose and ameliorating insulin resistance, as well as its potential value as an emerging therapeutic approach in improving maternal and infant outcomes and long-term health. This review discusses the latest research progress on the effect of exercise on the prevention and treatment of GDM, aims to deepen the knowledge of exercise therapy for GDM and provides guidance and assistance for the clinical treatment of GDM.

Active screening and patient-placement and cohort-placement strategies to decrease carbapenem-resistant gram-negative bacilli colonization and infection in pediatric patients: A 5-year retrospective observational study in China.

Carbapenem-resistant gram-negative bacilli (CR-GNB) colonization screening was initiated across high-risk departments (PICU, NICU, neonatal wards, and hematology departments) in January 2017, and several CR-GNB cohort and patient-placement strategies were introduced throughout the hospital in January 2018. The colonization and infection rates decreased to varying degrees from 2017 to 2021.

High species richness in the lichen genus Peltigera (Ascomycota, Lecanoromycetes): 34 species in the dolichorhizoid and scabrosoid clades of section Polydactylon, including 24 new to science.

Applying molecular methods to fungi establishing lichenized associations with green algae or cyanobacteria has repeatedly revealed the existence of numerous phylogenetic taxa overlooked by classical taxonomic approaches. Here, we report taxonomical conclusions based on multiple species delimitation and validation analyses performed on an eight-locus dataset that includes world-wide representatives of the dolichorhizoid and scabrosoid clades in section Polydactylon of the genus Peltigera. Following the recommendations resulting from a consensus species delimitation approach and additional species validation analysis (BPP) performed in this study, we present a total of 25 species in the dolichorhizoid clade and nine in the scabrosoid clade, including respectively 18 and six species that are new to science and formally described. Additionally, one combination and three varieties (including two new to science) are proposed in the dolichorhizoid clade. The following 24 new species are described: P. appalachiensis, P. asiatica, P. borealis, P. borinquensis, P. chabanenkoae, P. clathrata, P. elixii, P. esslingeri, P. flabellae, P. gallowayi, P. hawaiiensis, P. holtanhartwigii, P. itatiaiae, P. hokkaidoensis, P. kukwae, P. massonii, P. mikado, P. nigriventris, P. orientalis, P. rangiferina, P. sipmanii, P. stanleyensis, P. vitikainenii and P. willdenowii; the following new varieties are introduced: P. kukwae var. phyllidiata and P. truculenta var. austroscabrosa; and the following new combination is introduced: P. hymenina var. dissecta. Each species from the dolichorhizoid and scabrosoid clades is morphologically and chemically described, illustrated, and characterised with ITS sequences. Identification keys are provided for the main biogeographic regions where species from the two clades occur. Morphological and chemical characters that are commonly used for species identification in the genus Peltigera cannot be applied to unambiguously recognise most molecularly circumscribed species, due to high variation of thalli formed by individuals within a fungal species, including the presence of distinct morphs in some cases, or low interspecific variation in others. The four commonly recognised morphospecies: P. dolichorhiza, P. neopolydactyla, P. pulverulenta and P. scabrosa in the dolichorhizoid and scabrosoid clades represent species complexes spread across multiple and often phylogenetically distantly related lineages. Geographic origin of specimens is often helpful for species recognition; however, ITS sequences are frequently required for a reliable identification. Citation: Magain N, Miadlikowska J, Goffinet B, et al. 2023. High species richness in the lichen genus Peltigera (Ascomycota, Lecanoromycetes): 34 species in the dolichorhizoid and scabrosoid clades of section Polydactylon, including 24 new to science. Persoonia 51: 1-88. doi: 10.3767/persoonia.2023.51.01.

[Association between obesity and the prevalence of type 2 diabetes mellitus among Chinese adults aged 18-65 years in 15 provinces in 2018].

Objective: To analyze the association between different types of obesity, BMI, and waist circumference (WC) and the risk of type 2 diabetes mellitus (T2DM) in Chinese adults. Methods: Based on the China Health and Nutrition Survey data in 2018, different types of obesity were defined across different BMI and WC combinations based on Criteria of weight for adults (WS/T 428-2013), including non-obesity, simple general obesity, simple central obesity, and complex obesity. The associations of different types of obesity, BMI, and WC with T2DM risk were explored using two-level mixed-effects logistic regression and restricted cubic spline models. Results: A total of 7 030 subjects aged 18-65 were included in this study. The prevalence of general obesity and central obesity were 16.29% (502/3 082), 42.28% (1 303/3 082) in males, and 14.41% (569/3 948), 37.87% (1 495/3 948) in females. The prevalence of complex obesity was 14.70% and 12.97% in males and females, respectively. The prevalence of T2DM was 11.28% in participants, and the prevalence in complex obesity (18.98%, 22.07%) was higher than in simple central obesity (16.24%, 15.26%) and non-obesity (9.65%, 5.18%) in males and females, respectively. Multilevel regressions showed that males with simple central obesity and complex obesity had 1.61 (95%CI: 1.24-2.08) and 2.11 (95%CI: 1.56-2.86) times the odds of T2DM, respectively, as compared with the non-obesity; and the odds of T2DM in females were 2.70 (95%CI: 1.16-6.28) times for simple general obesity, 2.62 (95%CI: 2.01-3.40) times for simple central obesity, and 4.47 (95%CI: 3.35-5.98) times for complex obesity. A nearly linear positive association was observed between BMI and T2DM risk. WC was also positively associated with T2DM risk and a non-linearly increased risk in females (P for non-linear=0.024). The risk of T2DM increased when BMI ≥22.5 kg/m2 and 23.0 kg/m2, WC ≥85.0 cm and 80.0 cm in males and females, respectively. Conclusions: Complex obesity adults are more likely to suffer from T2DM. The risk of T2DM increases significantly when BMI is at the normal high values and waist circumference at the stage of pre-central obesity.

[Clinical follow-up analysis of multidisciplinary treatment of children with spinal muscular atrophy].

Objective: To analyze the follow-up and clinical effect of multidisciplinary treatment on the children with spinal muscular atrophy (SMA). Methods: The clinical data including nutritional status, respiratory function, bone health and motor function of 45 children with SMA who received multidisciplinary management 1-year follow-up in the Children's Hospital, Zhejiang University School of Medicine from July 2019 to October 2021 were retrospectively collected. Comparisons before and after management were performed using paired-samples t-test or Wilcoxon rank-sum test, etc. Results: The age of 45 patients (25 boys and 20 girls) was 50.4 (33.6, 84.0) months at the enrollment, with 6 cases of type 1, 22 cases of type 2, and 17 cases of type 3 respectively. After the multidisciplinary management, the cases of SMA patients with malnutrition decreased from 22 to 12 (P=0.030), the level of vitamin D were significantly increased ((45±17) vs. (48±14) nmol/L, t=-4.13, P<0.001). There was no significant difference in the forced vital capacity %pred, the forced expiratory volume at 1 second %pred, and the peak expiratory flow %pred ((76±19)% and (76±21)%, (81±18)% and (79±18)%, (81±21)% and (78±17)%; t=-0.24, 1.36, 1.21; all P>0.05). The Cobbs angle of scoliosis also improved significantly (8.0°(0°, 13.0°) vs. 10.0°(0°, 18.5°), Z=-3.01, P=0.003). The Hammersmith functional motor scale expanded scores of children with SMA type 2 and type 3 both showed significant elevation (11.0 (8.0, 18.0) vs. 11.0 (5.0, 18.5) scores, 44.0 (36.5, 53.0) vs. 44.0 (34.0, 51.5) scores, Z=2.44, 3.11, P=0.015, 0.002). Conclusion: Multidisciplinary management is beneficial for delaying the progression of the multi-system impairments of SMA patients, such as malnutrition, restrictive ventilation dysfunction and scoliosis.

[Epidemiological characteristics and trends of cardiometabolic risk factors in residents aged 18-64 years in 15 provinces of China].

Objective: To investigate the epidemiological characteristics and trends of cardiometabolic risk factors in residents aged 18-64 years in 15 provinces (autonomous regions,municipalities) of China, and to analyze the impact of demographic characteristics on cardiometabolic risk factors. Methods: 19 827 adults aged 18-64 from the "China Health and Nutrition Survey" in 2009, 2015 and 2018 were selected as subjects. Using the data of demographic and economic factors, blood biochemical measurements and physical measurements, the trend of detection rates of metabolic risk factors in different years was analyzed by Joinpoint regression model. The association between risk factors and demographic characteristics was analyzed by multinomial logit model. Results: Among all the risk factors, overweight and central obesity had the highest detection rates (36.41% and 39.93%, respectively). In addition, among the three years, the clustering of risk factors was highest in 2015 and decreased slightly in 2018. Joinpoint regression model analysis showed that the detection rates of most metabolic risk factors expressing an overall upward trend from 2009 to 2018 but there was no significantly statistical difference in annual percentage change (APC). Among the risk factors under APC>0, the APC of obesity and diabetes was the largest (APC=5.37%, t=3.26, P=0.190; APC=5.52%, t=7.70, P=0.082), while among the risk factors with APC<0, high hs-CRP appeared as the largest (APC=-6.95%, t=-4.17, P=0.150). Multinomial logit model showed that male had higher risk of developing all metabolic risk factors than female except LDL-C, TC and hs-CRP. The risk of other risk factors except HDL-C in adults aged 45-64 years was higher than that in the younger age group aged 18-44 years, and was more significant in hypertension and elevated HbA1c, which were 4.67 (95%CI:4.07-5.37) times and 3.73 (95%CI:2.91-4.77) times of the younger age group, respectively. Residents living in the eastern areas had the highest risk of obesity, borderline high LDL-C, hypertension, elevated blood glucose and diabetes, and the lowest risk of elevated TG and high hs-CRP. People from the western region had the lowest risk of central obesity, elevated blood pressure and hypertension. Conclusions: In the three years, the detection rate and clustering of most risk factors were the highest in 2015, and there was little change in 2018. Gender, age and geographical distribution were the main influencing factors of cadiometabolic risk factors. It is suggested to adopt targeted prevention strategies and intervention measures to reduce the risk of cardiovascular disease.

[Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy].

Objective: To explore the clinical efficacy of disease-modifying drug nusinersen on children with spinal muscular atrophy. Methods: The baseline and longitudinal clinical data of 15 children who were treated with nusinersen in the Children's Hospital, Zhejiang University School of Medicine from October 2019 to October 2021 were retrospectively collected. The general data (gender, age, genotype, and clinical classification, etc.), motor function, nutritional status, scoliosis and respiratory function were analyzed. Wilcoxon rank-sum test was used for comparing multi-system conditions before and after treatment. Results: The age of 15 cases (7 males, 8 females) was 6.8 (2.8, 8.3) years, with 2 cases of type 1, 6 cases of type 2, and 7 cases of type 3 respectively, and the course of disease was 55.0 (21.0, 69.0) months. After 9.0 (9.0, 24.0) months of treatment, the motor function scale evaluations of the Hammersmith neurological examination section 2 (13.0 (7.0, 23.0) vs. 18.0 (10.0, 25.0) scores, Z=-2.67, P=0.018) of 15 children, the Hammersmith functional motor scale expanded (38.0 (18.5, 45.5) vs. 42.0 (23.0, 51.0) scores, Z=-2.38, P=0.018), and the revised upper limb module (27.0 (19.5, 32.0) vs. 33.0 (22.5, 35.5) scores, Z=-2.52, P=0.012) of children with type 2 and 3 had significantly improved. Thirteen patients achieved clinically significant motor function improvement, and 2 of them had kept stable scale scores. Subjective reports also indicated that the muscle strength and daily exercise ability of these children improved after treatment, and no serious adverse reactions were reported. Supplemented by the multi-disciplinary team management, the levels of some indicators such as Cobbs angle of scoliosis and forced vital capacity all had significantly improved (all P<0.05). Conclusions: Nusinersen can improve the motor function of patients with 5q spinal muscular atrophy, which is also proved safe to be used in children. The drug treatment supplemented by the multi-disciplinary team management is helpful to improve the multi-system function of the children with spinal muscular atrophy.

[An analysis on senior pupil's tobacco use and exposure in Shandong province in 2012 and 2019].

Objective: To analyze the changes in tobacco use and exposure in primary school students in Shandong province in 2012 and 2019. Methods: A multi-stage stratified cluster random sampling method was used in the survey. In 2012 and 2019, 5 861 and 4 021 students from 3 different cities of Shandong province were selected as the study population. The questionnaire was filled anonymously by the subjects. χ2 test was conducted to compare the difference of groups. Results: In 2012 and 2019, the rate of attempting smoking among pupils under this study in Shandong province were 6.0％and 6.3%, respectively, while the current smoking rate were 1.2％and 2.3%, respectively. The sex ratio of male and female students attempting to smoke was 2.56∶1 in 2012 and 1.31∶1 in 2019. The sex ratio of current smoking rate was 2.43∶1 and 2.00∶1, respectively in 2012 and in 2019. The rate of tobacco exposure in the public places was 50.5％and 41.4%, respectively. The rate of tobacco exposure in family was 49.7% and 46.4%, respectively. Two rates of tobacco exposure decreased, but the reduction in family (3.3%) was far less than that in public places (9.1%). In 2019, the rate of tobacco exposure in family was higher than that in public places. Conclusions: The tobacco exposure rate declined in senior pupils in Shandong province. However, the situation is still grim for the current smoking rate, growth trend of girls tobacco use, and tobacco exposure in family.

[Characteristic analysis of patients with type 2 diabetes mellitus combined with advanced stage chronic liver disease: a community population-based cross-sectional study in Heping District, Shenyang City (CHESS-LN 2101)].

Objective: To investigate the prevalence and independent risk factors of non-alcoholic fatty liver disease (NAFLD) and advanced chronic liver disease among the type 2 diabetes mellitus (T2DM) population in the Shenyang community, so as to provide evidence for the prevention and control of T2DM combined with NAFLD. Methods: This cross-sectional study was conducted in July 2021. 644 T2DM cases from 13 communities in Heping District, Shenyang City were selected. All the surveyed subjects underwent physical examination (measurements of height, body mass index, neck circumference, waist circumference, abdominal circumference, hip circumference, and blood pressure), infection screening (excluding hepatitis B and C, AIDS, and syphilis), random fingertip blood glucose, controlled attenuation parameter (CAP), and liver stiffness measurement (LSM). The study subjects were divided into the non-advanced chronic liver disease group and the advanced chronic liver disease group according to whether the LSM value was greater than 10 kPa. Cirrhotic portal hypertension development was indicated in patients with LSM ≥ 15 kPa. The comparison of multiple mean values among the sample groups was performed by analysis of variance when the normal distribution was met. Results: In the T2DM community population, there were 401 cases (62.27%) combined with NAFLD, 63 cases (9.78%) combined with advanced chronic liver disease, and 14 cases (2.17%) combined with portal hypertension. There were 581 cases in the non-advanced chronic liver disease group and 63 cases (9.78%) in the advanced chronic liver disease group (LSM ≥10 kPa), including 49 cases (7.61%) with 10 kPa≤LSM<15 kPa, 11 cases (1.71%) with 15 kPa ≤LSM<25 kPa, and 3 cases (0.47%) with LSM ≥ 25 kPa. Age, body mass, body mass index, neck circumference, waist circumference, hip circumference, waist-to-height ratio, systolic blood pressure, and CAP were all statistically different between the non-advanced chronic liver disease group and the advanced chronic liver disease group (F=-1.983,-2.598,-4.091,-2.062,-3.909, -4.581,-4.295,-2.474, and -5.191, respectively; P<0.05). There was a statistically significant difference in terms of whether or not there was combined cerebrovascular disease (2=4.632, P=0.031); however, there were no statistically significant differences in terms of lifestyle, diabetes complications, and other complications (P>0.05). Conclusion: Patients with T2DM have a higher prevalence of NAFLD (62.27%) than those with advanced chronic liver disease (9.78%). 2.17% of T2DM cases in the community may not have had early diagnosis and early intervention, and they might have been combined with cirrhotic portal hypertension. So, the management of these patients should be strengthened.

From cradle to grave? A global hotspot and new species of the genus Lobaria discovered in the Himalayas and the Hengduan Mountains.

In this study, the East Asian diversity of green-algal Lobaria was evaluated by applying both morphological and phylogenetic approaches. A multi-locus phylogenetic analysis of 72 green-algal Lobaria specimens was performed using a three-locus and time-calibrated species-tree approach. The analyses demonstrate that pairs of sexually and vegetatively reproducing lineages split into highly supported monophyletic clades. Taxonomically, 11 green-algal Lobaria species were identified as new to science, while 10 were previously described species. The species differentiated during the Pliocene and Pleistocene. The coincidence of paleoclimatic events with estimated dates of divergence support a bioclimatic hypothesis for species evolution in the green-algal Lobaria. Molecular phylogenies, a summary of diversity, detailed new species descriptions and geographical analyses are provided. Special recognition of species with a long evolutionary history, which merit high conservation priority, will be critical for preserving geographically restricted endemics in the Himalayas and the Hengduan Mountains, where habitat loss is driving rapid declines.

[Multi-level scanning of environmental factors of body mass index of children and adolescents aged 7-17 years in China].

Objective: To investigate the influence of environmental factors on body mass index of children and adolescents in China. Methods: Using data from the China Health and Nutrition Survey, the research object to 7 - 17 years old children and adolescents who participated in 2000, 2006, 2011, and 2015 round of survey with complete data, a total of 6 626 children and adolescents (male 3 473, female 3 153) were investigated under univariate analysis for each environmental factor variable before using Partial Least Square Regression fitting a linear model for further screening. Finally, we fitted a three-level linear mixed-effects model distinct by urban and rural area for analysis. Results: The three-level null model, log likelihood=-17 034.68, χ2=483.06, P<0.001. Intern-class correlation coefficient (ICC) showed that community-level was 9.97%, and both community and individual were 39.38%. The three-level model also showed that urban model's urbanization index (ß=-0.05, 95%CI: -0.09--0.01, P<0.05), the park location (ß=-0.88, 95%CI: -1.72 - -0.04, P<0.05), 15 - 17 age group (ß=-1.04, 95%CI:-1.78 - -0.30, P<0.05) were negatively correlated with BMI. The distance to the gym (ß=0.12, 95%CI: 0.02 - 0.22, P<0.05), the number of home TV sets (ß=0.50, 95%CI: 0.08 - 0.92, P<0.05) and the frequency of parents' alarm of fiction TV program contents (ß=1.85, 95%CI: 0.70 - 3.00, P<0.05) were correlated with BMI. Rural urbanization index (ß=-0.04, 95%CI:-0.07 - -0.01, P<0.05). Rural per capita income (ß=-7.29e-4, 95%CI:-1.00e-3 - -6.77e-5, P<0.05), parents' restricted frequency of watching TV (ß=-1.29, 95%CI:-2.36 - -0.21, P<0.05), adipo-energy ratio (ß=-0.03, 95%CI:-0.06 - -1.00e-3, P<0.05) were negatively correlated with the BMI. Factors as the frequency of parents' alarm of fiction TV program contents (ß=3.01, 95%CI: 0.03 - 6.00, P<0.05), the survey time was 2015 (ß=4.83, 95%CI: 1.96 - 7.69, P<0.05) were correlated with BMI. Conclusions: Environmental factors could indirectly influence the change of BMI of children and adolescents to different degrees and various aspects. Urbanization index and rural per capita income had a slight protective effect on increasing BMI of children and adolescents. At the community level, attention should be paid to the setting of activity places around the living environment of children and adolescents. Family members should also guide their children and adolescents to develop nice behavior in watching TV.

[Genetic etiology of newborn deaths].

Objective: To explore the genetic etiologies of newborn deaths. Methods: A total of 98 newborns who were recruited to the Neonatal Genome Project of the Children's Hospital of Fudan University and died in the hospital from January 2018 to August 2020 were enrolled in this study. The genetic information and the interventions based on the genetic findings were retrospectively analyzed. T-test, Mann-Whitney U test, Chi square test and Fisher's exact probability test were used to compare the demographic features and clinical characteristics between the patients with or without a genetic finding. Results: Among 98 newborns (55 males and 43 females), there were 63 preterm and 35 term infants, with a gestational age of (33±5) weeks, a birth weight of (2 107±975) g and the age at death of 12 (2,34) days. Sixteen (16%)patients were identified with genetic variants, including 11 with single nucleotide variants, 4 with copy number variants and 1 with both single nucleotide variant and copy number variant. The detected single nucleotide variants were spanning 12 genes, among which 3 were multiple disorders-related, 2 metabolic disorder-related, 2 hematological disorder-related, 2 respiratory disorder-related, 2 cardiovascular disorder-related and 1 skeletal disorder-related. The patients with a positive genetic finding had significant differences in the birth weight ((2 605±940) vs. (2 009±957) g, t=2.283, P=0.025), the gestational age ((36±5) vs. (33±5) weeks, t=2.131, P=0.036), the age at death ((37 (5, 69) vs. 11 (2, 29) days, Ζ=-2.245, P=0.025) and the history of asphyxia at birth (1/16 vs. 46% (38/82), P=0.002)when compared to those without a genetic finding. In addition, the genetic etiology rates of patients who were born term or with a birth weight ≥ 2 000 g were significantly higher than those who were born preterm (29% (10/35) vs. 10% (6/63), P=0.022) or with a birth weight<2 000 g (25% (13/51) vs. 7% (3/46), χ2=5.016,P=0.025), respectively. Six cases were medically actionable based on the genetic findings and the treatments included special diet, applying specific medicine, hematopoietic stem cell transplantation and lung transplantation. Conclusions: Genetic etiologies are not rare in newborn deaths and mainly associated with metabolic disorder, multi-system disorders, hematological disorder, respiratory disorder, cardiovascular disorder and skeletal disorder. Some findings are medically actionable, based on which the specific treatments could be scheduled timely. A genetic etiology should be investigated in newborn deaths especially in those who are term birth or with a birth weight ≥2 000 g or without a history of asphyxia at birth.

[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].

Objective: To explore the underlying genetic causes of neonatal encephalopathy complicated with perinatal asphyxia. Methods: From the neonates recruited to the Neonatal Genome Project of Children's Hospital of Fudan University between January 2016 and January 2019, 113 neonates with neonatal encephalopathy and acute peripartum or intrapartum event or Apgar score ≤7 were enrolled in this study. The clinical data, laboratory results, the findings of electroencephalograph and magnetic resonance imaging or head ultrasound, and the genetic information were retrospectively analyzed. Results: Of the 133 neonates with neonatal encephalopathy and acute peripartum or intrapartum event or Apgar score ≤7 scores, 77 (57.9%) were males, 56 (42.1%) were female, 56 (42.1%) were delivered via cesarean section, and 77(57.9%) were born by vaginal delivery. Among these cases, 68 (51.1%) were diagnosed of hypoxic ischemic encephalopathy, 25 (18.8%) had intracranial hemorrhage, 20 (15%) were related to genetic diseases, and 5 (3.8%) had sepsis without central nervous infection. A total of 20 cases with positive results by next-generation sequencing test were identified, including 19 cases with pathogenic variations and 1 case with variation of uncertain significance. These 20 cases included 4 cases with congenital myopathy (2 cases of MTM1 gene pathogenic variants, 1 case of ACTA1 and 1 case of RYR1 gene pathogenic variants), 4 cases with genetic syndrome (2 cases of CHD7 gene pathogenic variants, 1 case of PTN11 gene pathogenic variant, and 1 case of NSDHL gene pathogenic variant), 3 cases with metabolic disorders (1 case of OTC gene pathogenic variant, 1 case of MTHFR gene pathogenic variant, and 1 case of ALDH7A1 gene pathogenic variant), 2 cases with epileptic encephalopathy (1 case of KCNT1 and 1 case of PACS2 gene pathogenic variants), 1 case with congenital central hypoventilation syndrome (PHOX2B gene pathogenic variant) and 6 cases with copy-number pathogenic variations. Among these 20 cases, 8(40.0%) neonates were presented with persistent hypotonia, 7(35.0%) neonates with seizures, and 5(25.0%) neonates with congenital malformation. Genetic counseling and further follow-up were performed or suggested for these 20 cases; 4 neonates were deceased, 10 neonates underwent palliative care, and 6 neonates were improved after supportive care and their further follow-up plan were performed in clinics. Conclusions: Genetic diseases are not rare in neonates with neonatal encephalopathy complicated with perinatal hypoxia event. The common causes in these neonates include congenital myopathy, metabolic disorders, genetic syndrome, and epilepsy encephalopathy.

Heat Transport in Herbertsmithite: Can a Quantum Spin Liquid Survive Disorder?

One favorable situation for spins to enter the long-sought quantum spin liquid (QSL) state is when they sit on a kagome lattice. No consensus has been reached in theory regarding the true ground state of this promising platform. The experimental efforts, relying mostly on one archetypal material ZnCu_{3}(OH)_{6}Cl_{2}, have also led to diverse possibilities. Apart from subtle interactions in the Hamiltonian, there is the additional degree of complexity associated with disorder in the real material ZnCu_{3}(OH)_{6}Cl_{2} that haunts most experimental probes. Here we resort to heat transport measurement, a cleaner probe in which instead of contributing directly, the disorder only impacts the signal from the kagome spins. For ZnCu_{3}(OH)_{6}Cl_{2}, we observed no contribution by any spin excitation nor obvious field-induced change to the thermal conductivity. These results impose strong constraints on various scenarios about the ground state of this kagome compound: while certain quantum paramagnetic states other than a QSL may serve as natural candidates, a QSL state, gapless or gapped, must be dramatically modified by the disorder so that the kagome spin excitations are localized.

Effects of lncRNA-HEIH on proliferation, apoptosis and invasion of gastric cancer cells.

OBJECTIVE: The aim of this study was to explore the expression of long non-coding ribonucleic acid HEIH (lncRNA-HEIH) in gastric cancer (GC) tissues, and to investigate its effects on the proliferation, apoptosis and invasion of HGC-27 cells. PATIENTS AND METHODS: A total of 80 tissue samples were collected from patients diagnosed with GC in Shenzhen People's Hospital. Meanwhile, para-carcinoma tissues were enrolled as normal controls (Control group). Total RNA was extracted from tissues, and the expression of lncRNA-HEIH was detected via quantitative reverse transcription-polymerase chain reaction (qRT-PCR). HGC-27 cells were cultured and transfected with small-interfering RNA-HEIH (si-HEIH group). At 48 h after transfection, cell proliferation, apoptosis and invasion were detected via methyl thiazolyl tetrazolium (MTT) assay, terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay and transwell assay, respectively. RESULTS: (1) Compared with Control group, the expression of lncRNA-HEIH rose significantly in GC tissues (p<0.01). (2) The expression of lncRNA-HEIH in HGC-27 cells was significantly down-regulated in si-HEIH group compared with si-NC group (p<0.01). (3) Compared with those in si-NC group, the proliferation of HGC-27 cells was suppressed (p<0.05), while the apoptosis of HGC-27 cells was promoted (p<0.01) in si-HEIH group. (4) The invasion of HGC-27 cells was remarkably inhibited in Si-HEIH group than si-NC group (p<0.05). CONCLUSIONS: LncRNA-HEIH is highly expressed in GC patients, which affects the proliferation, apoptosis and invasion of GC HGC-27 cells.

The STING-IRF3 pathway is involved in lipotoxic injury of pancreatic ß cells in type 2 diabetes.

Lipotoxic injury of pancreatic ß cells is an important pathological feature in type 2 diabetes mellitus (T2DM). Stimulator of interferon genes (STING) can recognize its own DNA leaked into the cytoplasm from damaged mitochondria or nuclei of the host cell, thus activating its downstream factor interferon regulatory factor 3 (IRF3), causing inflammation and apoptosis. The STING-IRF3 signaling pathway is closely related to glycolipid metabolism, but its relationship with the lipotoxicity of pancreatic ß cells has rarely been reported. Here, we investigated the role of the STING-IRF3 signaling pathway in lipotoxicity-induced inflammation, apoptosis, and dysfunction of pancreatic ß cells. We examined the activation of STING and IRF3 in islets of db/db mice and identified the role of the STING-IRF3 signaling pathway in palmitic acid (PA)-induced lipotoxic injury of INS-1, a rat insulinoma cell line. STING and phosphorylated IRF3 including downstream interferon-ß were upregulated in islets of db/db mice and PA-induced INS-1 cells. Gene silencing of STING or IRF3 ameliorated PA-induced INS-1 cell inflammation and apoptosis, and reversed impaired insulin synthesis. Additionally, PA induced downregulation of the phosphoinositide 3-kinase-AKT signaling pathway, and impaired high glucose-stimulated insulin secretion was reversed after knockdown of STING or IRF3. Our results suggest that activation of the STING-IRF3 pathway triggers inflammation and apoptosis of pancreatic ß cells, leading to ß-cell damage and dysfunction. Hence, inhibition of this signaling pathway may represent a novel approach for ß-cell protection in T2DM.