Objective To analyze the phenotype and genatics in a Chinese family with early-onset familial Alzheimer's disease(EOFAD). Methods Peripheral blood were collected in available members in the family and genomic DNA was extracted. PCR-sequencing of exon 16 and exon 17 of the amyloid precursor protein(APP) gene, presenilin 1 (PSEN1), and presenilin 2 (PSEN2) was performed. Results At age 40, two EOFAD patients (siblings) in the family developed an insidious onset of difficulties in memory. One ( Ⅱ3 in the pedigree) showed blinking. The other ( Ⅱ 5 ) showed irritability and bradykinesia.Progressive diffuse coritcal atrophy in bilateral temporal cortex was observed. Moderate diffuse cerebral dysfunction was observed in Ⅱ3 by the electroencephalogram study and neuropsychological assessments.Sequencing revealed that both patients were heterozygous for a mutation c. 2343 G ＞ A in exon 17 of APP,causing the amino acid substitution Val715Met. Four members ( Ⅱ1, Ⅱ 3, Ⅱ 5 and Ⅲ1 ) were homozygous for ApoE ε4 allele. Ⅱ9 was ε2/ε4. Conclusions This study identified a mutation, Val715Met in the APP gene in Chinese patients with EOFAD. We suggest screening for APP gene mutations in Chinese patients with EOFAD.

Objective To determine the clinical value of comcombined detection of serum FT 3 ,FT4 ,TSH ,TRAb ,TPOAb on outcome of women who have hyperthyroidism during pregnancy .Methods 100 patients with hyperthyroidism during pregnancy and 102 healthy pregnant women was selected in this research .Results The difference between the disease group and control group was statistically significant(P<0 .05) .Conclusion The combined detection of serum FT3 ,FT4 ,TSH ,TRAb ,TPOAb may have special impact on outcome of pregnant women .

Objective To screen 18 endophytes from Pseudolarix kaempferi Gord for molluscicidal effect and identify them by morphology. Methods Molluscicidal tests were performed according to the immersion test suggested by WHO and the strain screened was identified by the slide culture. Results The mortality rates of snails immersed by JJ18 broth salified (pH=7) were 26.7%, 76.7% and 100.0% for 24,48 h and 72 h, respectively, and 53.3% and 86.7% in 5% and 10% concentrations of JJ18 broth, respectively. The active components were extracellular moiety of the broth which had no acute toxicity to fish, and JJ18 strain belonged to Aspergillus. Conclusion Extracellular moiety of endophyte JJ18 from Pseudolarix kaempferi Gord is a new resource of molluscicide.

Objective To analyze the risk of re-emergence of Oncomelania snail(O.snail) from 2015 to 2019, in order to improve the effectiveness of snail control. Methods Collection of report forms and schistosomiasis surveillance data was carried out from 2015 to 2019, and analyzed retrospectively. Results The area of snail-emergence was 6 241.98 hm² during 2015-2019, 44.29、4 610.18、813.92、446.09 and 327.50 hm² respectively, for each corresponding year.Among the re-emergence areas, flat-ground subtype was 1 185.49 hm²(18.99%), hilly subtype was 2 536.58 hm²(40.64%), and mountain subtype was 2 519.91 hm²(40.37%).The top 5 cities with O.snail re-emergence areas were Liangshanzhou(2016), Ya′an(2016), Deyang(2016), Meishan(2016), and Meishan(2017).The top 5 disticts with O.snail re-emergence areas were Renshou, Puge, Lushan, Tianquan and Dechang. Conclusion The re-emergence of O.snail attributes to several factors, such as low quality of annual snail survey, unitary method of elimination and complexity of snail habit environment.Surveillance and supervision on the sources of infection and snail spreading should continue with exploration of new method in eliminating snails especially in hilly regions.

The aim of this study is to prepare hyaluronic acid (HA) modified core-shell liponanoparticles (pHA-LCS-NPs) as gene delivery system and investigate its gene transfection efficiency in human retinal pigment epithelium (ARPE-19) cells in vitro. The pHA-LCS-NPs was prepared by firstly hydrating dry lipid film with CS-NPs suspension to get LCS-NPs, then modifying the lipid bilayer with HA by amidation reaction between HA and dioleoyl phosphatidylethanolamine (DOPE). Its morphology, particle size and zeta potential were investigated. XTT assay was used to evaluate the cell safety of different vectors in vitro. The gene transfection efficiency of pHA-LCS-NPs modified with different contents of HA was investigated in ARPE-19 cells with green fluorescent protein (pEGFP) as the reporter gene. The results showed that the obtained pHA-LCS-NPs exhibited a clear core-shell structure with the average particles size of (214.9 +/- 7.2) nm and zeta potential of (-35 +/- 3.7) mV. The 24 h cumulative release of gene from pHA-LCS-NPs was less than 30%. After 48 h incubation, gene transfection efficiency of pHA-LCS-NPs/pEGFP was 1.81 times and 3.75 times higher than that of CS-NPs/pEGFP and naked pEGFP, respectively. Also no obvious cytotoxicity was observed on pHA-LCS-NPs. It suggested that the pHA-LCS-NPs might be promising non-viral gene delivery systems with high efficiency and low cytotoxicity.
Cell Survival ; Gene Transfer Techniques ; Genes, Reporter ; Genetic Vectors ; Green Fluorescent Proteins ; metabolism ; Humans ; Hyaluronic Acid ; chemistry ; pharmacology ; Lipids ; Nanoparticles ; Particle Size ; Phosphatidylethanolamines ; chemistry ; pharmacology ; Retinal Pigment Epithelium ; drug effects ; Transfection

Objective To explore the morphological features of temporal lobe of healthy Chinese Han adults on the high-resolution MRI and provide morphological data of temporal lobe for the construction of database for Chinese Standard Brain.Methods This is a clinical multi-center study.Three hundred healthy Chinese volunteers (male 150, and female 150) recruited from 15 hospitals were divided equally into five groups according to their age, i.e., 18-30 ( Group A ), 31-40 ( Group B ), 41-50 ( Group C ), 51-60(Group D), 61-70( Group E).All subjects were scanned using T1WI 3D MPRAGE sequence and volumes of standardized temporal lobe were collected.The bilateral volumes of standardized temporal lobe were compared by variance analysis between male and female subjects and among five age groups.Results The mean volumes of left and right temporal lobe were (97 126±15 703) mm3 and (97 015±15 545) mm3 respectively for men, and (95 123±14 564) mm3 and (96 423±13 407) mm3 for women.The difference temporal lobe volume between male and female wasn't significant on the same side (F = 1.336, 0.127 ,P =0.249, 0.722).The left temporal lobe volumes of Group A-E were (93 873±13 351 ), (95 566±11 964), (10 1890±14 511 ), (93 972±14 050) and (95 636±19 864)mm3 respectively, and those on the right side were (93 409±10 984), (98 158±16 392), (102 079±15 112), (95 448±11 123 ) and (94 658±16 928) mm3.There were significant differences among 5 groups between left and right temporal lobe volume( F = 2.940, 3.514, P = 0.021, 0.008 ).Further pairwise comparison revealed that left and right temporal lobe volume in Group C is higher than those of Group A and D(P<0.05), while there were no significant differences between the other groups ( P > 0.05 ).Conclusion High-resolution MRI could offer detailed images and precise morphological data of temporal lobe, which provides morphological data of temporal lobe for the construction of database for Chinese Standard Brain.

AIM To study the chemical constituents from Vigna umbellata Ohwi et Ohashi.METHODS The ethyl acetate fraction of 80％ ethanol extract from V.umbellata was isolated and purified by silica,Sephadex LH-20 and ODS column,then the structures of obtained compounds were identified by spectral data and physicochemical properties.RESULTS Twelve compounds were isolated and elucidated as (+) catechin (1),(-) epicatechin (2),3-furanmethanol-β-D-glucopyranoside (3),myricetin-3-O-β-D-glucopyranoside (4),quercetin7-O-β-D-glucopyranoside (5),(+) catechin-3-O-β-D-glucopyranoside (6),(+) catechin-5-O-β-D-glucopyranoside (7),quercetin-3 '-O-α-L-rhamnoside (8),(±) dihydroquercetin (9),quercetin (10),ethyl gallate (11),propanediol (12).CONCLUSION All the compounds are isolated from V.umbellata for the first time,and compounds 4,8,9,11,12 are first obtained from genus Vigna.

DNA Fingerprinting ; DNA, Mitochondrial ; Homicide ; Humans ; Mitochondria

italic>Artemisia argyi (A. argyi) is a Chinese herbal medicine in China. The main active components are volatile oils, flavonoids, and other compounds, which have various pharmacological activities. Methoxylated flavonoids are the main active ingredients in A. argyi. Flavonoid O-methyltransferase (FOMT) is a key enzyme in the O-methylation of flavonoids. In order to further understand the function and characteristics of FOMT proteins, this paper carried out the whole genome mining and identification of FOMT genes in A. argyi and performed phylogenetic, chromosomal localization, gene sequence characterization, subcellular localization prediction, protein structure, gene structure analysis, and expression pattern analysis. The results showed that a total of 83 FOMT genes were identified in the genome of A. argyi. The phylogenetic tree shows that FOMT genes are divided into two subgroups, CCoAOMT (caffeoyl CoA O-methyltransferase) subfamily (32 genes) and COMT (caffeic acid O-methyltransferase) subfamily (51 genes). Gene sequence analysis showed that the number of amino acids encoded by FOMT was 70-734 aa, the molecular weight was 25 296.55-34 241.3 Da, and the isoelectric point was 4.51-9.99. Compared with 32 members of the CCoAOMT subfamily, nearly 1/3 of the 51 members of the COMT subfamily were hydrophobic proteins and 2/3 were hydrophilic proteins. Subcellular localization prediction showed that more than 80% of CCoAOMT subfamily members were located in the cytoplasm, and 96% of COMT subfamily members were located in the chloroplast. COMT subfamily members have more motifs than CCoAOMT subfamily members. The N-terminal motifs of COMT subfamily proteins are relatively variable, while the C-terminal motifs are relatively conserved. Expression pattern analysis showed that CCoAOMT subfamily members were mainly expressed in roots, while COMT members were mainly expressed in leaves. Some FOMTs showed the tissue expression specificity by real-time quantitative PCR analysis, especially in leaves. In this study, we identified and analyzed the FOMT gene family in A. argyi, and provided a theoretical basis for further research on the function of FOMTs and the biosynthesis of methylated flavonoids in A. argyi.

Abstract: Objective　To analyze the epidemiological characteristics of 151 cases of melioidosis and the drug resistance of Burkholderia pseudomallei (BP), in order to provide the basis for diagnosis, treatment and reasonable prevention of melioidosis. Methods　A total of 151 inpatients and outpatients from the Second Affiliated Hospital of Hainan Medical University from January 1, 2013 to August 31, 2022 were collected, and clinical specimens were submitted for examination to isolate and identify BP strains. The clinical data of 151cases of melioidosis and the drug resistance characteristics of pathogenic bacteria were retrospectively analyzed, and using SPSS26.0 software for statistical analysis. Results　Among 151 cases with BP infection, there were 138 males (91.4%) and 13 females (8.6%); the most patients were aged from 45-<60 years old, accounting for 74 cases (49.0%); melioidosis incidence was concentrated in October (19.2%), November (19.2%), August (9.9%) and July (8.6%), and; the number of confirmed cases showed an increasing trend and the time for confirmation was <10 d; Internal medicine system (31.1%), surgery system (26.5%) and intensive care department (20.5%) were the common departments for treating melioidosis; blood (49.0%), sputum (9.9%) and wound secretion (8.6%) were the main clinical specimens for detecting BP; pulmonary infection (68.2%), sepsis (35.1%) and local suppurative infection (23.8%) were the top clinical manifestations in patients with BP infection; the effective rate of treating melioidosis was 74.8%; abnormal liver function was a risk factor for the curative effect of melioidosis (χ2=5.010, P<0.05); the sensitivity rates of BP strains to sulfamethoxazole-trimethoprim (SXT), doxycycline (DOX), imipenem(IPM), ceftazidime (CAZ), amoxicillin/clavulanate (AMC) and tetracycline (TCY) were generally more than 90%, with sensitivities of 98.7%, 97.2%, 96.7%, 94.0%, 93.2% and 90.7%, respectively. Conclusions　It can be concluded that misdiagnosis or missed diagnosis of melioidosis is easy to occur, and the understanding of the epidemiological characteristics and risk factors in this area should be strengthened. The sensitivity of BP to commonly used antibiotics has shown a certain downward trend, clinical use should be standardized, and drug resistance monitoring should be strengthened to improve the efficacy of melioidosis treatment.