Objective To analyze the influence of sleep deprivation on expression of serotonin receptor 1A(5-HT1A) and dopanine-2 receptor (D2R) gene and to explore the differences between different neurotransmitter pathways involved in sleep regulation through measuring the gene expression of 5-HT1A and D2R in regions of hippocampus,hypothalamus and striatum with different sleep deprivation models.Methods Sleep deprivation was performed to male SD rats of 10-week-old for 24 hours,48 hours and 72 hours respectively as the experimental group and a control group was taken for comparison.The expressions of 5-HT1A and D2R gene in regions of hippocampus,hypothalamus and striatum were detected through RT-PCR technique to analyze the influence of sleep deprivation on gene expression in different regions.Results Sleep deprivation had a significant effect on the gene expression of 5-HT1A in regions of hippocampus and striatum(F=56.203,P＜0.01 ; F=77.288,P＜0.01).The three experimental groups were all superior to the control group and the difference was of statistic significance(P＜0.05).In the hippocampus region,the expression quantity of the 72 hours group(0.618±0.054) was superior to that of the 24 hours group and of the 48 hours group(24 hours:0.404±0.023,P＜0.01 ;48 hours:0.455±0.042.P＜0.05).In the striatum region,the differences between the 24 hours group(0.413±0.033),the 48 hours group(0.464±0.034)and the 72 hours group(0.610±0.040) were all of statistic significance(all P＜0.05).Sleep deprivation had a significant effect on the expression of D2R gene in regions of hippocampus and striatum(F=74.708,P＜0.01 ; F=80.687,P＜0.01).The expression quantity of the three experimental groups in regions of hippocampus (24 hours:0.386±0.027,48 hours:0.318±0.014,72 hours:0.250±0.010) and striatum(24 hours:0.396±0.013,48 hours:0.349±0.017,72 hours:0.260±0.013) were all inferior to the control group.The differences were of statistic significance (all P＜0.05).There was a negative correlation between the gene expressions of 5-HT1A and D2R of rats of the three experience groups(all P＜0.05).Conclusion For the sleep deprivation rats,the gene expression of 5-HT1A rises while that of D2R falls in regions of hippocampus,hypothalamus,and there is a negative correlation between the expressions of the two genes.

AIM: To establish an effective and convenient method for applying HPLC fingerprints to quality control in the production of Xiasangju Granules(Spica prunellae,Folium mori,Flos chrysanthemi). METHODS: Komasil Sunfrie C_(18)(150 mm?4.6 mm,5 ?m) analytical column was used and eluted with a gradient program consisted of phase A(1% acetic acid) and phase B(methanol) and detected at 290 nm.The fingerprints of aqueous extract,alcohol-precipitated extract,concentrate and finished product were compared with. RESULTS: The fingerprint method for Xiasangju Granules was established.The similarity among 10 batches of Xiasangju Granules was no less than 0.970.The difference between extracts and finished product of Xiasangju Granules was obvious. CONCLUSION: This validated method is available for quality evaluation and quality control in Xiasangju Granule's production.

Objective:To explore the association of bone resorption marker β carboxyterminal peptide of collagen Ⅰ (β-CTX) with hypercalcemia in patients with Graves′ disease (GD).Methods:287 patients with GD who were hospitalized in the endocrinology department of Fuyang People′s Hospital from January 2021 to December 2021 were divided into control group ( n=251) and hypercalcemia group ( n=36) according to the corrected blood calcium level. The clinical data and serum β-CTX level of the two groups were compared. Logistic regression model was used to analyze the risk factors of hypercalcemia in GD patients. Pearson correlation was used to analyze the correlation between serum β-CTX level and other indexes. Results:Of the 287 GD patients, 36 were diagnosed as hypercalcemia, and the incidence of hypercalcemia was 12.54%. The levels of free triiodothyronine (FT3), free thyroxine (FT4), blood phosphorus (P) and β-CTX in hypercalcemia group were higher than those in control group, and the total parathyroid hormone (iPTH) in hypercalcemia group were lower than those in control group (all P<0.05). Multivariate Logistic regression analysis showed that FT3 ( OR=1.283, 95% CI: 1.049-1.570, P<0.05), iPTH ( OR=0.924, 95% CI: 0.863-0.989, P<0.05), β-CTX ( OR=2.488, 95% CI: 1.193-5.189, P<0.05) were the influencing factors for hypercalcemia in GD patients. Pearson correlation analysis showed that β-CTX was positively correlated with FT3, FT4, blood calcium, P, alkaline phosphatase (ALP), total procollagen type I amino end terminal peptide (PINP), N-bone-gamma-carboxyglutamic-acid-containing proteins (N-MID) and 25(OH)D, and negatively correlated with iPTH (all P<0.05). Conclusions:β-CTX is highly expressed in the serum of GD patients with hypercalcemia, which is a risk factor for the occurrence of hypercalcemia in GD patients.

OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.

RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).

CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.

Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics

OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.

METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.

RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.

CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

OBJECTIVETo explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).

METHODSSerum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls.

RESULTSMutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c.1244-2A>C and c.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>A(p.G390E), respectively. One has carried homozygous c.1244-2A>C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence.

CONCLUSIONc.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.

Objective To investigate the distribution of Oncomelania hupensis snails in different water systems in Anqing City from 2016 to 2022, so as to provide insights into snail control in the city. Methods Snail survey data and distribution of water systems in snail-infested environments were collected from schistosomiasis-endemic areas of Anqing City from 2016 to 2022. The vector maps of towns and water systems in Anqing City were downloaded from National Geomatics Center of China. The GPS toolbox APP version 2.7.9 was downloaded from a smartphone to record the longitude and latitude of each snail-infested environment in Anqing City, which were loaded into the software LocaSpace Viewer version 4.4.6 to map the distribution of snail-infested environments. The area of snail habitats, area of emerging snail habitats, area of re-emerging snail habitats, type of snail habitats and density of living snails were descriptively analyzed. The spatial database of snail-infested environments in Anqing City was built with the software ArcGIS version 10.8, and the density of living snails was subjected to spatial autocorrelation analysis in snail-infested environments. The hotspot clusters of density of living snails were identified in snail-infested environments and the density of living snails was subjected to standard deviation ellipse analysis in snail-infested environments. Results A total of 515 snail-infested environments were identified in water systems in Anqing City in 2022. The area of snail habitats reduced from 6 909.32 hm² in 2016 to 6 087.48 hm² in 2022, with a reduction of 11.89%, and the areas of snail habitats reduced by 2.39%, 21.71% and 1.67% in the main stream of the Yangtze River, the Wanhe River system and the Caizihu River system in Anhui City, respectively, while the area of snail habitats increased by 3.94% in the Huayang River system. Emerging or re-emerging snail habitats were identified in Anqing City each year during the period from 2016 to 2018 and from 2020 to 2020. The density of living snails appeared a tendency towards a decline in the Wanhe River system (b = -0.030, t = -3.019, P < 0.05) and Huayang River system (b = -0.029, t = -4.296, P < 0.05) in Anqing City from 2016 to 2022, and fluctuated in the main stream of the Yangtze River (b = 0.028, t = 1.019, P > 0.05) and the Caizihu River system (b = 0.020, t = 1.877, P > 0.05). A positive global spatial autocorrelation was identified in the density of living snails in Anqing City each year from 2016 to 2022 (all Moran's I values > 0, all P values < 0.05), and the hotspot clusters of density of living snails in snail-infested environments were mainly distributed in the Wanhe River system (Shankou Township, Hongpu Township, Yueshan Township and Wanghe Townshpi), the main stream system of the Yangtze River (Dalongshan Township, Wanhe Farm, Haikou Township and Huayang Township), the Huayang River system (Dashi Township and Xuqiao Township) and the Caizihu River system (Xiushan Township and Fangang Township). The ratio of the long to short axes of the standard deviation ellipse was 1.72 to 2.06 for the density of living snails in snail-infested environments in Anqing City from 2016 to 2022, and snails were mainly distributed in the southwest to northeast, and appeared the east-west and north-south spread. Conclusions The areas of snail habitats and the density of living snails appeared a tendency towards a decline in different water systems in Anqing City from 2016 to 2022; however, there is still a risk of snail spread. Reinforced surveillance and precision control of snails are required in Anqing City.

OBJECTIVETo assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).

METHODSThe 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).

RESULTSSix SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.

CONCLUSIONrs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.

Alleles ; Autoantigens ; genetics ; Base Sequence ; Child, Preschool ; Congenital Hypothyroidism ; blood ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Iodide Peroxidase ; genetics ; Iron-Binding Proteins ; genetics ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Risk Factors ; Thyrotropin ; blood ; Thyroxine ; blood

Objective To understand the relationship between perinatal factors and congenital hypothyroidism(CH)and provide scientific evidence for the prevention of CH. Methods A case-control study was conducted among 125 neonates with CH (case group) and 375 neonates without CH(control group)in Fujian Neonatal Screening Center from January in 2012 to December in 2013. Univariate and multivariate logistic regression analysis were performed to identify the risk factors to CH during perinatal period. Results Univariate logistic regression analysis indicated that compared with control group,gestational hypertension,gestational diabetes mellitus,gestational thyroid disease and older age of mother were the risk factors to CH,the difference was statistically significant (P<0.05) and the risk of CH was higher in female babies,preterm babies,post-term babies low birth weight babies,macrosomia,twins,babies with birth defects and infection in cases group than those in control group,the difference was statistically significant (P<0.05). Multivariate logistic analysis showed that older age of mother(OR=2.518,95%CI:1.186-5.347), gestational diabetes mellitus(OR=1.904,95%CI:1.190-3.045),gestational hypothyroidism or hyperthyroidism(OR=12.883 and 30.797,95%CI:2.055-80.751 and 3.309-286.594),preterm birth (OR=4.238,95%CI:1.269-14.155),and post-term birth(OR=12.799,95%CI:1.257-130.327),low birth weight(OR=3.505,95%CI:1.059-11.601),macrosomia(OR=3.733,95%CI:1.415-9.851), twin or multiparous delivery(OR=5.493,95%CI:1.701-17.735),birth defects(OR=3.665,95%CI:1.604-8.371)and fetal distress(OR=3.130,95%CI:1.317-7.440)were the high risk factors to CH (P<0.05). Conclusion CH was correlated with mother’s age,gestational diabetes,gestational thyroid disease as well as neonate’s birth weight and gestational age,foetus number,fetal distress and other complicated birth defects at certain degree. More attention should be paid to perinatal care to reduce risk factors and the incidence of CH.

Objective To assess the association of single nucleotide polymorphisms (SNPs)of biliverdin reductase A (BLVRA) with neonatal hyperbilirubinemia from Fujian area.Methods A total of 286 patients with neonatal hyperbilirubinemia and 250 healthy controls were enrolled.Genotypes of 5 SNPs within BLVRA gene including rs699512,rs1802846,rs7738,rs1637530 and rs2302032 were determined with matrix-assisted laser desorption ionization/time of flight mass spectrometer.The frequencies of genotype,allele,haplotype and their differentiations were analyzed.Results All 5 SNPs had conformed to Hardy-Weinberg equilibrium (all P ＞ 0.05).rs699512 and rs1637530 showed a significant difference between the 2 groups in both allelic and genotypic frequencies (all P ＜ 0.05),but no significant differences were found in the other SNPs(all P ＞ O.05).In recessive model,the frequency of rs699512 GG genotype of patients was significantly lower than that of the healthy control group(OR =0.494,95％ CI:0.276-0.886,P =0.018),while in dominant model,the frequencies of rs699512 GG + AG and rs1637530 TT + CT genotype of patients were significantly lower than that of the healthy control group(OR =0.678,0.627;95％ CI:0.482-0.954,0.444-0.885;P =0.026,0.008).Based on linkage disequilibrium analysis and haplotype construction,rs1637530,rs2302032,rs699512 and rs1802846 locus in the same area.Based on haplotype CGAT,TGGT,CTAT and CGGT had significant differences between the 2 groups (all P ＜ 0.05),and could reduce the risk of high blood bilirubin (OR =0.588,0.687,0.501;95％ CI:0.434-0.797,0.496-0.952,0.250-1.004).Conclusions rs699512 and rs1637530 may be associated with neonatal hyperbilirubinemia,A allele in rs699512 and C allele in rs1637530 may be associated with significantly increased risk of neonatal hyperbilirubinemia.