Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

The combination of ginkgo ketoester tablet - donepezil (GD) is a popular combination commonly used in clinic for the treatment of Alzheimer's disease. To evaluate the learning and memory improving ability of different proportions of the two drugs. We optimized the ratio of GD for treatment of dementia using a mouse model. Dementia was induced by multiple neuronal damages in mice. The experimental protocols were approved by the Animal Experimental Ethical Committee of Nanjing University of Chinese Medicine and all the procedures were strictly conducted in accordance with ethical principle of animal use and care. Morris water maze, brain hematosylin-eosin staining and the changes of the neurotransmitters and related enzymes in the plasma or brain tissues were tested to determine the effect of GD on dementia mice. The results showed that the dementia mice were significantly different from the normal group in terms of behavior, pathological sections and related indicators. Compared to the dementia mice, partial administration groups could improve learning and memory ability as well as indexes in the blood and brain tissues. Both the principal component analysis and multi-attribute comprehensive index methods were used to comprehensively evaluate the total effect of GD on anti-dementia. The results showed that the combination of two drugs at the dose of 0.5 to 1 times was in a dose-effect relationship, and the dose of 1 (the clinical equivalent) had the best treatment effect. Then based on the optimal dose, GD 1∶1 had best effect, which was consistent with the clinical use of two drugs. This provides scientific basis for more effective application of the compatibility between ketoester tablet and donepezil for modern clinic medicine.

In this study， an endophytic bacteria strain BZJN1 was isolated from Atractylodes macrocephala， and identified as Bacillus subtilis by physiological and biochemical tests and molecular identification. Strain BZJN1 could inhibit the growth of mycelia of Ceratobasidium sp. significantly， and the inhibition rate was more than 70%. The mycelium growth deformity with bulge as spherical and partially exhaustible in apex or central with microscopic observation. The inhibitory rates under 3% and 6% concentrations of the cell free fermentation were 22.7% and 38.7% expectively. The field test proved that the control efficacy of treatment of 1×10⁸ cfu·mL⁻¹ is 75.27% and 72.37% after 10 and 20 days. All the treatments of strain BZJN1 was able to promote the growth of A. macrocephala， the treatment of 1×10⁸ cfu·mL⁻¹ could able to increase the yield to 14.1%.
Atractylodes ; microbiology ; Bacillus subtilis ; physiology ; Basidiomycota ; pathogenicity ; Biological Control Agents ; Endophytes ; classification ; isolation & purification ; Plant Diseases ; microbiology ; prevention & control

OBJECTIVETo evaluate the association of known polymorphisms in the lipid metabolic pathway with body mass index (BMI), and estimate their interactions with soybean food intake.

METHODSA community-based cross-sectional survey was conducted in a Chinese Han population. BMI, soybean food intake, and single nucleotide polymorphisms of rs599839, rs3846662, rs3846663, rs12916, rs174547, rs174570, rs4938303, and rs1558861 were measured in 944 subjects. A multivariate logistic regression was used to analyze the association of the studied polymorphisms with BMIs. The expectation-maximization algorithm was employed to evaluate the extent of linkage disequilibrium between pairwise polymorphisms. The gene-environment interaction was assessed in the general multifactor dimensionality reduction model.

RESULTSThe polymorphisms of rs3846662 and rs3846663 were associated with 10% highest BMIs when comparing to the 10% lowest values both in individuals and haplotype-based association tests. Although no statistically significant gene-environment interactions were found, people with the haplotype composed of C allele in rs3846662 and T allele in rs3846663 and low frequency of soybean intake had significantly higher risk to overweight and obesity as compared with those with the haplotype consisting of T allele in rs3846662 and C allele in rs3846663 and highly frequent soybean food intake, with an odds ratio of 1.64 (95% confidence interval: 1.15-2.34, P<0.01) after adjusting for the common confounders.

CONCLUSIONOur study has suggested that rs3846662 and rs3846663 may be the potential candidate polymorphisms for obesity, and their effect on the pathogenesis could be mediated by the frequency of soybean food intake.

Adult ; Apolipoprotein B-48 ; genetics ; Asian Continental Ancestry Group ; genetics ; Body Mass Index ; Cross-Sectional Studies ; Diet ; Dyslipidemias ; genetics ; Eating ; Female ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Hydroxymethylglutaryl CoA Reductases ; genetics ; Lipid Metabolism ; genetics ; Logistic Models ; Male ; Middle Aged ; Overweight ; genetics ; Polymorphism, Single Nucleotide ; Repressor Proteins ; genetics ; Soybeans

OBJECTIVETo study relationships between serum ferritin and bone metabolism in patients with hip fragility fractures.

METHODSThis cross-sectional study included 76 postmenopausal women with hip fracture from Feburary 2011 to June 2012. The mean age of the women was (73 ± 10) years (range, 55-93 years) and the mean duration of menstruation was (22 ± 10)years (range, 5-50 years). Serum concentrations of ferritin, transferrin, alkaline phosphatase (ALP), amino-terminal extension peptide of type I collagen (P1NP), C-terminal telopeptides of type I collagen (β-CTX)and femoral and lumbar bone mineral density by dual-energy X-ray absorptiometry were measured. Bone metabolism was compared between normal and elevated ferritin groups with t-test, Pearson linear, partial correlation and multiple regression analysis examined associations between iron- and bone-related markers.

RESULTSSerum ferritin concentration raised to (230 ± 146)µg/L, transferrin concentration reduced to (1.89 ± 0.33)g/L. P1NP concentration raised to (61 ± 32) ng/L when the concentration of serum ALP and β-CTX were in the normal range. T-scores for bone mineral density in the femoral neck (-2.0 ± 1.1) and lumbar (-2.1 ± 1.2) were below the normal ranges(-1.0-1.0). The subjects were divided into two groups according to serum ferritin concentration, normal group(serum ferritin concentration ≤ 150 µg/L, n = 25) and elevated group(serum ferritin concentration > 150 µg/L, n = 51). Patients of elevated group had lower bone mineral density in femoral neck and lumbar than normal group(t = 3.13,2.89, P < 0.01), and higher P1NP, β-CTX concentration (t = -2.38, -3.59, P < 0.05) . In partial correlation analysis adjusted for confounders, serum ferritin concentration was correlated negatively with bone mineral density in both femoral neck and lumbar (r = -0.335,-0.295, P < 0.05), and positively with P1NP and β-CTX (r = 0.467,0.414, P < 0.05), but not correlated with ALP (r = 0.188, P > 0.05). Transferrin concentration tended to be correlated positively with bone mineral density in both femoral neck and lumbar (r = 0.444, 0.262, P < 0.05) and negatively with ALP, P1NP and β-CTX(r = -0.326,-0.285,-0.278, P < 0.05).

CONCLUSIONSIron overload has a high prevalence in postmenopausal women with fragility fracture. Increased iron stores, which might lead to bone loss and lower bone mineral density by enhancing the activity of bone turnover, could be an independent factor to take effects on bone metabolism on postmenopausal women.

Aged ; Aged, 80 and over ; Bone Density ; Bone Remodeling ; Collagen Type I ; blood ; Cross-Sectional Studies ; Female ; Hip Fractures ; metabolism ; Humans ; Iron Overload ; Iron-Binding Proteins ; metabolism ; Middle Aged ; Osteoporosis, Postmenopausal ; metabolism ; Postmenopause ; Retrospective Studies

Objective To explore the effect of 0.9％ sodium chloride solution airway instillation before endotracheal suctioning on machinery ventilates patients.Methods Totals of 80 patients who received mechanical ventilation longer than 72 hours were enrolled in this study and were randomly divided into experimental group and the control group with 40 cases each group.And 5ml 0.9％ sodium chloride solution was instilled into the airway of each case in experimental group before the endotracheal suctioning,while the same procedure was not performed in control group.The incidence of VAP,the positive rate of sputum culturing,themechanical ventilation time and the staying time in ICU were observed and respectively compared between the two groups.Results The incidence of VAP was 25.0％ in experimental group and 15.0％ in control group,and the difference was no statistically significance(P ＞0.05).The positive rate of sputum culturing was 47.5％ in experimental group,while that was 22.5％ in control group,and the difference was statistically significant( x2 =5.495,P ＜ 0.05 ).The mechanical ventilation time and the staying time in ICU of experimental group respectively were higher than that of control group [ ( 7.35 ± 3.89 ) vs( 5.73 ± 2.45 ),( 10.88 ± 4.37 ) vs(9.00 ± 3.59 ) ],and the difference was statistically significant ( U =602.0,589.5,respectively ; P ＜ 0.05 ).Conclusions Airway instillation of 0.9％ sodium chloride solution before endotracheal suctioning can increase the positive rate of sputum culturing,mechanical ventilation time,and the staying time in ICU for patients,so it should not be performed as a routine nursing procedure.

Objective To analyze the outcome of surveillance results on plague and to provide the evidences for the policy making in Longlin county Guangxi. Methods The epidemic data and the surveillance results of plague were analyzed and assessed with epidemiology methods in Longlin county Guangxi from 2000 to 2009, and the density of rodents, the rodents infected with flea, flea index and other indicators were calculated. Regional composition of the rats and fleas were analyzed. Results A totally of 4829 rats were captured and 4737 fleas were collected in the past 10 years, Rattus Flavipestus(81.92%,3956/4829) and Xenopsylla Cheopis (79.04%,3744/4737) were dominant species. The annual average density of rodents, the rodents infected with flea, index of flea were 3.30%(4829/146 206), 27.99%(1351/4827) and 0.98(4737/4827), respectively. A totally of 4792 rats were examined and 10 strains Yersinia Pestis were isolated. Indirect hemorrhagic assessed(IHA) was used to test the F1 antibody against plague in the blood serum of the rats and indicator animals, and 3 positive rats and 24 positive animals were found, respectively. Twenty seven natural villages in 3 towns had been involved in the plague. Conclusions The plague foci exists in Longlin county of Guangxi province. The plague foci in the areas have the same feature with the plague foci of Rattus Flavipectus. There is a potential risk for plague in this region, we should improve the quality of surveillance, increase indicator animals of the plague, and try to apply new surveillance method.

OBJECTIVETo analyze the intermediate-term results associated with the use of Zweymtiller hip system.

METHODSReview the 116 cases (142 hips) who were treated with total hip replacement from 1996 to 2002 by a single surgeon using cementless Zweymüller hip systems.

RESULTSSixty-one cases (77 hips) were followed up, 50 cases (64 hips) were evaluated both clinically and radiographically while 5 cases (6 hips) and 6 cases (7 hips) were only evaluated clinically and radiographically respectively. The average follow-up period was 7.3 years (range 5 to 11 years). The mean preoperative Harris Hip Score was 46 while the mean postoperative Harris Hip Score was 93. Distal cortical hypertrophy and medullary sclerosis were observed in 30 hips (42.3%) and 33 hips (46.5%) respectively. Heterotopic ossification arose in 45 hips (63.4%). Radiolucent lines occurred in 27 stems (38.0%) but in no cups. Radiolucent lines were mostly observed in Gruen zones 1. Osteolysis occurred in 7 cups (9.9%) and 18 stems (25.4%). Osteolysis was mostly observed in Delee Zone 3 and Gruen zone 7. In the distal Gruen zones 3, 4 and 5, no radiolucent line or osteolysis was observed. No hips had been revised, 3 cups needed revision surgery because of aseptic loosening.

CONCLUSIONThe 5-11 years follow-up results are satisfactory, but osteolysis is common.

Adolescent ; Adult ; Aged ; Arthroplasty, Replacement, Hip ; Female ; Follow-Up Studies ; Hip Prosthesis ; Humans ; Male ; Middle Aged ; Treatment Outcome ; Young Adult

OBJECTIVETo investigate antagonistic effect of microwave on hematopoietic damage of mice induced by gamma-ray irradiation.

METHODSMale healthy Kunning mice were treated with low dose microwave radiation before exposure to (60)Co gamma-ray irradiation of 8.0 Gy. The 30-day survival rate and average survival time of the mice after the treatment were examined. Peripheral blood parameters and the organ indexes of thymus and spleen were also observed in the irradiated mice. After exposure to 5.0 Gy gamma irradiation, indexes of hematopoietic foci formation of bone marrow cells (CFU-GM) and the proliferation activity of BMNCs were examined. The serum concentration of hemopoietic factors (GM-CSF and IL-3) were detected by ELISA kits.

RESULTSPre-exposure with 120 microW/cm(2) 900 MHz microwave increased the 30-day survival rate (P < 0.05) and the number of white blood cells of gamma-ray treated mice. The increases of the organ indexes of thymus and spleen, proliferation activity of BMNCs and CFU-GM hematopoietic foci numbers, as well as the higher serum concentration of GM-CSF and IL-3 were observed in the microwave pre-exposure group.

CONCLUSIONLow dose microwave radiation may exert potential antagonistic effects on hematopoietic injuries induced by ionizing radiation. The underlying mechanisms might be related with stimulation of hematopoietic growth factors expression, promotion of HSCs/HPCs proliferation, suppression on the reduction of HSCs/HPCs caused by (60)Co gamma-ray, and enhanced construction of the hematopoietic system.

Animals ; Bone Marrow ; pathology ; radiation effects ; Bone Marrow Cells ; pathology ; radiation effects ; Cell Differentiation ; radiation effects ; Cell Proliferation ; radiation effects ; Gamma Rays ; adverse effects ; Granulocyte-Macrophage Colony-Stimulating Factor ; blood ; Interleukin-3 ; blood ; Male ; Mice ; Microwaves ; Radiation Injuries, Experimental ; blood ; pathology ; prevention & control

OBJECTIVETo investigate radiation protection and possible mechanisms of low intensity microwave on gamma-ray exposed mice.

METHODS96 healthy Kunming mice were randomly divided into the following four groups: normal control, microwave (120 microW/cm(2), 900 MHz), gamma-ray irradiation (5 Gy), combined exposure of microwave and gamma-ray (120 microW/cm(2) + 5 Gy). The microwave group and combined group were exposed to 120 microW/cm(2) microwave firstly, 1 h/d, for 14 days. Then the ionization and combined group were exposed to 5 Gy (60)Co gamma-ray irradiation on the 15th day. Animals were sacrificed on the third, 6th, 9th and 12th day after irradiation. The sternum and spleen paraffin section were produced, and the histological changes were observed. Apoptosis rate of mice splenic cells in each group was examined by flow cytometry, and serum concentration of antioxidant and lipid peroxide was detected at the same time.

RESULTSBone marrow was obviously injured either by radiation or microwave exposure, characterized by undergoing four-phase lesions, namely apoptosis-necrosis, void, regeneration and recovery phase. Compared with the gamma-ray group, the pathological changes in combined group were slighter and the recovery was quicker. The pathological injuries of spleen were similar to that of bone marrow. Injuries in the combined group were slighter than gamma-ray group. It showed that apoptosis rate of splenic cells in combined group was significantly lower on the 6th and 9th day after gamma-ray radiation (23.02% +/- 15.18%, 25.37% +/- 11.62% respectively) from FCM results. Assays of oxidative damages suggested that serum superoxide dismutase (SOD) level in combined group increased while lipid peroxide level decreased significantly (P < 0.05).

CONCLUSIONLow intensity microwave may exert protection effects on injuries induced by ionizing radiation. The underlying mechanisms might be related with suppression on the hematopoietic cells apoptosis induced by gamma-ray radiation, inhibition of oxidative damages, and thus enhanced reconstruction of the hematopoietic system.

Animals ; Apoptosis ; radiation effects ; Dose-Response Relationship, Radiation ; Gamma Rays ; adverse effects ; Male ; Mice ; Microwaves ; Radiation Protection