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1.
J Cosmet Dermatol ; 2024 Apr 16.
Article in English | MEDLINE | ID: mdl-38628085

ABSTRACT

BACKGROUND: There is a dearth of effective treatments to counter retinol-induced skin irritation. OBJECTIVE: This study aimed to investigate the efficacy of three potential mitigants: (i) phytosteryl/octyldodecyl lauroyl glutamate (PLG), (ii) a physiologic lipid mixture (PLM) comprised of ceramide three and cholesterol, and (iii) niacinamide, in ameliorating irritation instigated by retinol. METHODS: An occlusive human patch test, spanning 5 days, was undertaken on 18 Chinese participants aged between 23 and 40. It was designed as a randomized, double-blind, and vehicle-controlled study. Clinician erythema assessment (CEA) and instrumental evaluations were employed pre and post-test. Subsequently, a 4-week consumer in-use test, randomized and double-blind in nature, was executed to substantiate the soothing effects of PLG. RESULTS: Data from CEA and bioengineering assessments revealed that, in comparison to the vehicle control, both 2% PLG and 5% PLM notably curbed retinol-induced skin erythema and inflammation. Notably, PLG outperformed PLM. Conversely, 3% niacinamide did not offer relief against retinol-induced discomfort. The subsequent consumer in-use test affirmed that treatments with 2% PLG were better tolerated than those with the vehicle alone. CONCLUSION: To the best of our knowledge, this study represents the first confirmation that physiologic lipids effectively mitigate retinol-induced irritation. Given their capacity to counter retinol-induced irritation, physiologic lipids, particularly PLG, are recommended for incorporation in retinol regimens. Additionally, the Visia-CR a* value can serve as a robust objective measure for interpreting patch test outcomes.

2.
Analyst ; 149(10): 2806-2811, 2024 May 13.
Article in English | MEDLINE | ID: mdl-38683246

ABSTRACT

We design a p-aminothiophenol (pATP) modified Au/ITO chip to determine nitrite ions in lake water by a ratiometric surface-enhanced Raman scattering (SERS) method based on nitrite ions triggering the transformation of pATP to p,p'-dimercaptoazobenzene (DMAB). Intriguingly, by using the SERS peak (at 1008 cm-1) from benzoic ring deforming as an internal standard instead of the traditional peak at 1080 cm-1, the detection sensitivity of the method was improved 10 times.

3.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(11): 1124-1130, 2023 Nov 15.
Article in Chinese | MEDLINE | ID: mdl-37990456

ABSTRACT

OBJECTIVES: To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD). METHODS: A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022. RESULTS: Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants. CONCLUSIONS: Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.


Subject(s)
Adrenal Hyperplasia, Congenital , Cryptorchidism , Disorders of Sex Development , Hypospadias , Male , Humans , Child , Disorders of Sex Development/genetics , Disorders of Sex Development/diagnosis , Disorders of Sex Development/pathology , Hypospadias/genetics , Hypospadias/complications , Cryptorchidism/complications , Retrospective Studies , Steroid 21-Hydroxylase
4.
BMC Ophthalmol ; 23(1): 345, 2023 Aug 07.
Article in English | MEDLINE | ID: mdl-37544996

ABSTRACT

BACKGROUND: Cat-scratch disease typically presents with various ocular manifestations such as uveitis, vitritis, retinitis, retinochoroiditis, and optic neuritis. However, fundus nodular lesions was rarely reported. In our study, we reported a case of Cat-Scratch disease with binocular fundus nodular lesions. CASE PRESENTATION: An 11-year old male presented with uveitis in the right eye and bilateral fundus nodular lesions after indirect contact with unvaccinated cats. Comprehensive ancillary examinations including wide-angle fundus photography, ultrasonography, fluorescein fundus angiography, optical coherence tomography, and orbital magnetic resonance imaging were performed to elucidate the multidimensional features of the binocular lesions. Metagenomics next-generation sequencing was utilized to confirm the diagnosis of Cat-scratch disease. The patient's condition showed improvement after a 6-month combination treatment regimen involving systemic administration of doxycycline hyclate and methylprednisolone tablets, as well as local application of mydriatic and corticosteroid eye drops. CONCLUSIONS: We firstly reported a case of Cat-scratch disease presenting simultaneously with uveitis and fundus nodular lesions caused by Bartonella henselae infection in a child. Timely diagnosis and treatment with antibiotics and corticosteroids showed promising outcomes for the prognosis of these ocular disorders.


Subject(s)
Bartonella henselae , Cat-Scratch Disease , Chorioretinitis , Retinitis , Male , Humans , Cat-Scratch Disease/diagnosis , Cat-Scratch Disease/drug therapy , Fundus Oculi , Retinitis/diagnosis
5.
ACS Sens ; 8(5): 1929-1938, 2023 05 26.
Article in English | MEDLINE | ID: mdl-37043270

ABSTRACT

The tobacco epidemic is a public health threat that has taken a heavy toll of lives around the globe each year. As one of the poison species from smoking, formaldehyde (FA) affects both the smokers and nearby persons who are exposed to second-hand smoke. Therefore, on-site tracking of FA exposure could evaluate the public environmental safety and mitigate the potential hazards. Herein, we first prepare SiO2-shelled AuAg alloy nanoparticles (AuAg@SiO2) and then embed AuAg@SiO2 within agarose hydrogel to construct the three-dimensional (3D) surface-enhanced Raman scattering (SERS) substrate. A reagent of 3-methyl-2-benzothiazolinone hydrazine (MBTH) with reaction activity toward FA is loaded in the 3D substrate to obtain the selective SERS patch (designated as M-hydrogel patch). Based on a marker Raman peak at 1273 cm-1 from the reaction product of MBTH-FA, the M-hydrogel patch is used to realize SERS detection of FA in smoke. A good linear relationship from 5 × 10-4 to 5 mg/m3 and a limit of detection (LOD) of 2.92 × 10-5 mg/m3 could be reached. While for detection of FA in aqueous, a linear range of 1 × 10-7-1 × 10-3 mg/mL with an LOD of 1.46 × 10-8 mg/mL could be achieved. As the real application, the proposed M-hydrogel patch could be placed anywhere indoor to SERS evaluate the spatial distribution of FA in tobacco smoke, which is in connection with the second-hand smoke effect on children and adults. Such M-hydrogel patch-based SERS assay is exerted for on-field detection of FA in water and furniture panels by using a portable Raman system, showing satisfactory selectivity and reproducibility.


Subject(s)
Metal Nanoparticles , Tobacco Smoke Pollution , Child , Humans , Hydrogels , Silicon Dioxide , Reproducibility of Results , Formaldehyde/analysis
6.
Food Chem ; 409: 135194, 2023 May 30.
Article in English | MEDLINE | ID: mdl-36586267

ABSTRACT

In this study, a cholesteric chiral artificial receptor L5 was synthesized and a rapid method for the detection of iodide ions was established. The addition of L5 to Ethanol/Tris (V/V = 1/1, pH 7.0) solution changed the iodide ion solution from colorless to light yellow to achieve the naked-eye identification. The identification pattern was confirmed with the help of spectral titration, job test and anti-interference test, and it was found that L5 bound to iodide ion in a 1:1 coordination ratio. It was also confirmed that the hydrogen atoms of the amide group of MeO-PhCONH in L5 and the hydrogen atoms of -COOCH3 in L5 interacted with I- through hydrogen bonding force by 1H NMR titration, infrared spectroscopy, scanning electron microscopy and computer molecular simulation. The detection limit of L5 was 0.025 µmol/L, which could efficiently and conveniently detect iodide ions in food samples.


Subject(s)
Iodides , Receptors, Artificial , Spectrophotometry, Infrared , Magnetic Resonance Spectroscopy , Hydrogen
7.
Spectrochim Acta A Mol Biomol Spectrosc ; 287(Pt 2): 122048, 2023 Feb 15.
Article in English | MEDLINE | ID: mdl-36368268

ABSTRACT

High plasma homocysteine (Hcy) levels may indicate cardiovascular disease. However, sensitive and selective determination of Hcy remains a major challenge. Herein, we present a sensing strategy for Hcy by surface enhanced Raman scattering (SERS) method along with a specific reaction of o-phthalaldehyde (OPA) and Hcy. The obtained adduct 2-(1-carboxyl-3-thiopropyl)-1-isoindolinone (Hcy-OPA) can be directly detected by SERS using gold nanoparticles (Au NPs) as the substrate. The developed SERS method displays superior sensitivity (low detection limit of 2.50 × 10-12 mol L-1) with a broad linear range (5.00 × 10-10 -5.00 × 10-6 mol L-1). As a proof of real application, it can be used to detect Hcy in bovine serum samples with a concentration as low as 5.00 × 10-9 mol L-1, which is free from the interference of the other amino acids and glutathione.


Subject(s)
Metal Nanoparticles , Spectrum Analysis, Raman , Spectrum Analysis, Raman/methods , Gold/chemistry , Metal Nanoparticles/chemistry , o-Phthalaldehyde , Homocysteine , Limit of Detection
8.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-984761

ABSTRACT

Objective: To estimate the latent period and incubation period of Omicron variant infections and analyze associated factors. Methods: From January 1 to June 30, 2022, 467 infections and 335 symptomatic infections in five local Omicron variant outbreaks in China were selected as the study subjects. The latent period and incubation period were estimated by using log-normal distribution and gamma distribution models, and the associated factors were analyzed by using the accelerated failure time model (AFT). Results: The median (Q1, Q3) age of 467 Omicron infections including 253 males (54.18%) was 26 (20, 39) years old. There were 132 asymptomatic infections (28.27%) and 335 (71.73%) symptomatic infections. The mean latent period of 467 Omicron infections was 2.65 (95%CI: 2.53-2.78) days, and 98% of infections were positive for nucleic acid test within 6.37 (95%CI: 5.86-6.82) days after infection. The mean incubation period of 335 symptomatic infections was 3.40 (95%CI: 3.25-3.57) days, and 97% of them developed clinical symptoms within 6.80 (95%CI: 6.34-7.22) days after infection. The results of the AFT model analysis showed that compared with the group aged 18-49 years old, the latent period [exp(β)=1.36 (95%CI: 1.16-1.60), P<0.001] and incubation period [exp(β)=1.24 (95%CI: 1.07-1.45), P=0.006] of infections aged 0-17 years old were prolonged. The latent period [exp(β)=1.38 (95%CI: 1.17-1.63), P<0.001] and the incubation period [exp(β)=1.26 (95%CI: 1.06-1.48), P=0.007] of infections aged 50 years old and above were also prolonged. Conclusion: The latent period and incubation period of most Omicron infections are within 7 days, and age may be a influencing factor of the latent period and incubation period.


Subject(s)
Male , Humans , Adult , Adolescent , Young Adult , Middle Aged , Infant, Newborn , Infant , Child, Preschool , Child , COVID-19 , SARS-CoV-2 , Infectious Disease Incubation Period , Asymptomatic Infections
9.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1009858

ABSTRACT

OBJECTIVES@#To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD).@*METHODS@#A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022.@*RESULTS@#Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants.@*CONCLUSIONS@#Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.


Subject(s)
Male , Humans , Child , Disorders of Sex Development/pathology , Hypospadias/complications , Cryptorchidism/complications , Retrospective Studies , Adrenal Hyperplasia, Congenital , Steroid 21-Hydroxylase
10.
Acta Pharmaceutica Sinica ; (12): 899-908, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-978773

ABSTRACT

Nucleotide-binding oligomerization domain containing protein 2 (NOD2) is a member of intracellular pattern recognition receptor. After being activated, it will induce the release of inflammatory factors through a series of signal cascade transduction, thus playing an important role in the innate immune response. The abnormal NOD2 signaling pathway is involved in the occurrence and development of many diseases, especially the single nucleotide polymorphisms (SNPs) of the NOD2 gene have been identified to be closely associated with autoinflammatory diseases (AIDs). Therefore, inhibitors targeting NOD2 pathway have great potential in the treatment of inflammatory immune diseases. This review presents the recent progress of NOD2 receptor-mediated signal transduction pathways and its regulation mechanisms, the relationship between NOD2 and AIDs, and the inhibitors of NOD2 pathway.

11.
International Eye Science ; (12): 1854-1858, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-996898

ABSTRACT

With people's attention and in-depth research on visual quality, many distinctive survey scales have been developed. The use of visual quality questionnaires is a subjective way to evaluate patients' visual quality, an expression of patients' self feelings, and an important part of reflecting visual quality. With objective detection methods, the results are more convincing. Many scales have been introduced into China and have been revised through translation, back translation, and cultural adaptation, playing an indispensable role in the visual quality evaluation system. It is particularly important to assess visual quality through psychological and sociological content, and whether the content can be appropriately combined with the subjective feelings of patients. The core of the visual quality of life survey questionnaire lies in its high repeatability. This article summarizes commonly used visual quality questionnaires, which have been verified in terms of validity, reliability, and responsiveness. The validity of the measurement scale, the consistency of the measurement results, the ability to reflect the smallest meaningful clinical changes after effective medical intervention, and the design characteristics, main application directions, and trends of the scale are listed to provide reference for clinical workers to choose appropriate survey scales.

12.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-995286

ABSTRACT

Objective:To analyze the whole genome of Omicron variants causing the first local Omicron outbreak in Henan Province and to investigate the mutations in the SARS-CoV-2 genome for source tracing.Methods:Respiratory tract samples from COVID-19 cases in the Omicron outbreak in Henan Province from January 7 to 29, 2022 were subjected to whole-genome sequencing and sequence alignment analysis. Whole-genome identity, variations and evolution of the Omicron variants were analyzed.Results:Through high-throughput sequencing, the whole-genome sequences of SARS-CoV-2 were obtained from 120 cases, which accounted for 25.64% (120/468) of all COVID-19 cases in Anyang during the same period. Compared with the genome of Wuhan reference strain (NC_045512.2), there were 57-59 nucleotide mutation sites in the 120 whole genome sequences, and one or two nucleotide mutation sites were added to the shared 57 nucleotide sites. All of the 120 strains were VOC/Omicron (BA.1.1) variants and shared high homology. The whole-genome sequence obtained from the first case A contained 57 nucleotide mutation sites, while apart from the 57 identical nucleotide mutation sites, one specific mutation site (C1594T) was found in the whole-genome sequence obtained from the first case B, suggesting that the two cases were in the same transmission chain. After comparing with the database of domestic and imported cases by the Chinese Center for Disease Control and Prevention and the Henan Provincial Center for Disease Control and Prevention, it was found that the current outbreak was linked with the same transmission chain as the existing local epidemics in other provinces. Moreover, epidemiological investigation showed that on January 2, case A had come into contact with her cousin and his family who returned from an affected area outside the province.Conclusions:Based on the gene sequencing results and epidemiological investigation, the COVID-19 outbreak in Anyang city, Henan Province was a local epidemic and the source of it was a college student who returned to Anyang city from other province on December 28, 2021. These infections were linked to the same transmission chain as the existing local infection in other provinces.

13.
Chinese Journal of Endemiology ; (12): 540-547, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-991668

ABSTRACT

Objective:To analyze the epidemiological characteristics and spatiotemporal characteristics of human brucellosis in Henan Province.Methods:Data of human brucellosis in Henan Province from 2005 to 2021 were collected through the China Disease Prevention and Control Information System, and a descriptive epidemiological method was used to analyze the epidemic profile of brucellosis in Henan Province and the three distribution characteristics. Global and local spatial autocorrelation were used to analyze the spatial distribution and the hot spots of brucellosis in Henan Province, respectively, and spatiotemporal scanning was used to analyze the spatiotemporal clustering regions of brucellosis in Henan Province.Results:A total of 39 862 brucellosis cases were reported in Henan Province from 2005 to 2021, with an average annual incidence of 2.44/100 000, and the number of cases showed an overall increasing trend each year (χ 2trend = 11 127.85, P = 0.001). The onset months were mainly concentrated from March to July, accounting for 59.00% (23 517/39 862), with May as the peak (5 478 cases). Cases of brucellosis were reported in 157 counties (cities, districts) of the province. The ratio of male to female was 2.52∶1.00 (28 542/11 320). Farmers were the main occupation, with 32 985 cases (82.75%). The age of onset was mainly 45 to 65 years old, with 20 226 cases (50.74%). The global spatial autocorrelation analysis showed that the global Moran's I was > 0, Z > 1.96, and P < 0.05 in all years except 2006 - 2008, showing spatial clustering. Further local spatial autocorrelation analysis was performed, and high-high and low-low clustering areas existed in 2012 - 2021 ( P < 0.01). Spatiotemporal scanning analysis showed that there was one spatiotemporal cluster in the high incidence area and two spatiotemporal clusters in the low incidence area. The high incidence cluster was centered in Neixiang County, covering 48 counties (cities, districts) including Song County and Ruzhou City, and the aggregation time was from 2014 to 2021. The two low incidence clusters were centered in Yongcheng City and Boai County, covering 58 and 18 counties (cities, districts), respectively, and the aggregation time was 2016 - 2021 and 2005 - 2012, respectively. Conclusion:The overall incidence of brucellosis in Henan Province is on the rise from 2005 to 2021, with middle-aged and elderly male farmers as the main affected population, and there are spatiotemporal clusters of brucellosis in Henan Province.

14.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1013876

ABSTRACT

Aim To investigate the mechanism through which liraglutide (LRG) inhibited high glucose (HG)-induced cardiomyocyte hypertrophy. Methods Cultured H9c2 were divided into control (CON) group, HG group, low-, middle- and high-dose LRG (LRG-L, LRG-M and LRG-H) groups, LRG-H + autophagy inhibitor trimethyladenine (3-MA) group. The relative cell surface change was assessed phalloidin staining. Membrane bound Na, K

15.
Chinese Pharmacological Bulletin ; (12): 594-598, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1013821

ABSTRACT

Aim To construct and identify a new time-specific NLRP3 point mutation transgenic mouse model by Cre-LoxP system. Methods Cre-LoxP system was used to generate NL-RP3

16.
Chinese Pharmacological Bulletin ; (12): 1195-1199, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1013796

ABSTRACT

Aim To establish stable and reliable animal models of Blau syndrome (BS) in vivo. Methods C57BL/6J mice were intraperitoneally injected with muramyl dipeptide (MDP) or L18-MDP to induce systemic inflammatory model of BS. Meanwhile, positive drug etanercept (ETN) was set to investigate the response of the model to evaluate effectiveness. SD rats were intravitrealiy injected with MDP to establish BS-associated uveitis model. Serum levels of TNF-a, IL-6 and IL-8 were detected by enzyme linked immunosorbent assay (ELISA). Histopathologic al changes of rat eyeballs were detected by HE staining and the expressions of p65, p-ERK, p-p38, p-JNK, TNF-a, IL-6 and IL-8 in vitreous were determined by immunohistochem-istry (IHC) staining. Results The serum level of TNF-a in mice increased after intraperitoneal injection of MDP (P < 0.05), and increased significantly after L18-MDP injection (P < 0.01). Meanwhile, the levels of IL-6 and IL-8 were also markedly induced by L18-MDP (P < 0. 01, P < 0. 01). ETN treatment evidently inhibited the increased levels of these above cytokines induced by L18-MDP (P < 0. 05, P < 0. 01). After the intravitreous injection of MDP in SD rats, there were numerous inflammatory cells infiltrated in retina and vitreous, and the retina was seriously damaged. The staining levels of p65, p-ERK, p-p38, p-JNK, TNF-a, IL-6 and IL-8 in eyeball tissues were significantly enhanced. Conclusions The systemic animal model of BS can be successfully established by intraperitoneal injection of L18-MDP in C57BL/6J mice, and the good BS-relat-ed uveitis can be induced by intravitreous injection of MDP in SD rats, which provides the simple, convenient, repeatable and i-deal animal models for exploring the pathogenesis of BS and e-valuating the efficacy of drugs.

17.
Chinese Journal of Hematology ; (12): 930-935, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1012259

ABSTRACT

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BβAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BβSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BβAla98Asp and p.BβSer473* were pathogenic. Protein models demonstrated that the p.BβAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BβSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BβAla98Asp heterozygous missense mutation and the p.BβSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.


Subject(s)
Humans , Afibrinogenemia/genetics , Codon, Nonsense , Pedigree , Phenotype , Fibrinogen/genetics , Genotype
18.
Article in English | WPRIM (Western Pacific) | ID: wpr-1007866

ABSTRACT

OBJECTIVE@#This study explored whether thyroglobulin and thyroid disease prevalence rates were higher in pregnant Chinese women with a median urinary iodine concentration of 100-149 µg/L, compared with those with a median urinary iodine concentration of 150-249 μg/L maintained through sustainable universal salt iodization.@*METHODS@#This was a cross-sectional study in which 812 healthy pregnant women were enrolled to collect samples of their household edible salt, urine, and blood during their routine antenatal care in the 18 counties in Fujian Province, China. The levels of salt iodine concentration, urinary iodine concentration (UIC), free triiodothyronine (FT3), free thyroid hormone (FT4), thyroid-stimulating hormone (TSH), thyroglobulin (Tg), thyroid peroxidase antibody and thyroglobulin antibody were assessed during the routine antenatal care visits.@*RESULTS@#The median UIC (mUIC) in pregnant women was 130.8 μg/L (interquartile range = 91.5-198.1 μg/L) in the counties with an mUIC of 100-149 μg/L (Group I), and 172.0 μg/L (interquartile range = 123.5-244.4 μg/L) in the counties with an mUIC of 150-249 μg/L (Group II). Goiter prevalence and thyroid nodule detection rates showed no difference between Group I and Group II ( P > 0.05). Except for FT4 values, the TSH, FT4, FT3, Tg and Tg values > 40 (μg/L) and the thyroid diseases prevalence rate (TDR) showed no significant differences between Group I and Group II ( P > 0.05), whether or not iodine supplementation measures were taken.@*CONCLUSION@#Compared with an mUIC of 150-249 μg/L, not only there was no difference in thyroid morphology, but also the Tg value, rate of Tg values > 40 µg/L, and TDR were not higher in pregnant women in the counties with an mUIC of 100-149 μg/L achieved through sustainable universal salt iodization in Fujian Province, China.


Subject(s)
Female , Humans , Pregnancy , Cross-Sectional Studies , Iodine/urine , Pregnant Women , Sodium Chloride, Dietary , Thyroglobulin , Thyroid Gland , Thyrotropin , East Asian People
19.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-969910

ABSTRACT

Objective: To estimate the latent period and incubation period of Omicron variant infections and analyze associated factors. Methods: From January 1 to June 30, 2022, 467 infected persons and 335 confirmed cases in five local Omicron variant outbreaks in China were selected as the study subjects. The latent period and incubation period were estimated by using log-normal distribution and gamma distribution models, and the associated factors were analyzed by using the accelerated failure time model (AFT). Results: The median (Q1, Q3) age of 467 Omicron infections including 253 males (54.18%) was 26 (20, 39) years old. There were 132 asymptomatic infections (28.27%) and 335 (71.73%) symptomatic infections. The mean latent period of 467 Omicron infections was 2.65 (95%CI: 2.53-2.78) days, and 98% of infections were positive for nucleic acid detection within 6.37 (95%CI: 5.86-6.82) days after infection. The mean incubation period of 335 symptomatic infections was 3.40 (95%CI: 3.25-3.57) days, and 97% of them developed clinical symptoms within 6.80 (95%CI: 6.34-7.22) days after infection. The results of the AFT model analysis showed that compared with the group aged 18~49 years old, the latent period [exp(β)=1.36 (95%CI: 1.16-1.60), P<0.001] and incubation period [exp(β)=1.24 (95%CI: 1.07-1.45), P=0.006] of infections aged 0~17 year old were also prolonged. The latent period [exp(β)=1.38 (95%CI: 1.17-1.63), P<0.001] and the incubation period [exp(β)=1.26 (95%CI: 1.06-1.48), P=0.007] of infections aged 50 years old and above were also prolonged. Conclusion: The latent period and incubation period of most Omicron infections are within 7 days, and age may be the influencing factor of the latent period and incubation period.

20.
Chinese Journal of School Health ; (12): 242-245, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-964425

ABSTRACT

Objective@#To understand the real experience and feelings of self injurious cutting in adolescents with depression, to provide guidance for clinical targeted interventions.@*Methods@#During November 2021 to May 2022, 19 adolescent patients with depression who had cut themselves as the type of non suicidal self injury were recruited from a tertiary first class psychiatric hospital in Chengdu, Sichuan Province. All the participants were interviewed in a semi structured manner, which used the interpretative phenomenological analysis to analyze the transcription data.@*Results@#The experience and feelings of non suicidal self injury in adolescent with depression could be summarized into five themes: self injury thoughts that arise under external interference; self injurious behavior in a thousand thoughts; painful but a happy experience of self injury; cutting as the most frequently selected form of non suicidal self injury; decreases in self injurious behavior reduced when they feel love and responsibility.@*Conclusion@#Non suicidal self injury of adolescent patients with depression are affected by various factors. Clinicians should provide targeted clinical care according to the characteristics of patients, as well as the no suicide contract, alternative skills of non suicidal self injury behaviors, and a multi dimensional social support platform with the families of patients.

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