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1.
J Chromatogr Sci ; 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38553778

RESUMO

Shexiang Tongxin Dropping Pill (STP) is a composite formula of traditional Chinese medicine that is widely used for the treatment of cardiovascular diseases. It consists of seven medicinal extracts thereof or materials, including Bufonis venenum, synthetic Moschus, Panax ginseng, Bovis calculus artifactus, Bear bile powder, Salvia miltiorrhiza Bge and synthetic borneol. However, it is considerably difficult to evaluate the quality of STP due to its complex chemical compositions. This paper was designed to explore a comprehensive and systematic method combining fingerprints and chemical identification for quality assessment of STP samples. Twenty batches of STP samples were analyzed by high-performance liquid chromatography (HPLC) and high-performance liquid chromatography-quadrupole time-of-flight tandem mass spectrometry. Ten common peaks were detected by HPLC fingerprint similarity evaluation system. Meanwhile, 100 compounds belonging to 4 structural characteristics, including 23 bufadienolides, 36 organic acids, 34 saponins and 7 other types, were systematically identified as the basic components in STP. This study could be used for clarifying the multiple bioactive substances and developing a comprehensive quality evaluation method of STP.

2.
Saf Health Work ; 15(1): 110-113, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38496289

RESUMO

Numerous studies have indicated that organic fertilizers (OFer) might contain heavy metals (HMs) that present health risks to organic farmers (OFar). This study compared the concentrations of six HMs (Zn, Ni, Cd, Cu, Pb, Cr) in the blood of two distinct groups of farmers: 30 OFar from a designated organic area in eastern Taiwan, and 74 conventional farmers (CFar) from neighboring non-organic designated regions. The findings revealed that the OFar exhibited higher levels of Zn (1202.70 ± 188.74 µg/L), Cr (0.20 ± 0.09 µg/L), and Ni (2.14 ± 1.48 µg/L) in their blood compared to the CFar (988.40 ± 163.16 µg/L, 0.18 ± 0.15 µg/L, and 0.77 ± 1.23 µg/L), respectively. The disparities in Zn, Cr, and Ni levels were measured at 214.3 µg/L, 0.02 µg/L, and 1.37 µg/L, respectively. Furthermore, among the OFar, those who utilized green manures (GM) displayed significantly elevated blood levels of Zn (1279.93 ± 156.30 µg/L), Cr (0.24 ± 0.11 µg/L), and Ni (1.94 ± 1.38 µg/L) compared to individuals who exclusively employed chemical fertilizers (CFer) (975.42 ± 165.35 µg/L, 0.19 ± 0.16 µg/L, and 0.74 ± 1.20 µg/L), respectively. The differences in Zn, Cr, and Ni levels were measured at 304.51 µg/L, 0.05 µg/L, and 1.20 µg/L, respectively. As a result, OFar should be careful in choosing OFer and avoid those that may have heavy metal contamination.

3.
Lett Appl Microbiol ; 77(3)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37563083

RESUMO

This study reports the antioxidant potential and L-asparaginase production of culturable fungal endophytes from Dendrobium orchids in Malaysia. Twenty-nine isolates were screened using the 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay to determine their free radical scavenging activities and antioxidant capacity (IC50 and AEAC). L-asparaginase production of fungal endophytes was detected by the qualitative plate assay, and the enzyme activities estimated via the Nesslerization method. All 29 endophytic isolates exhibited various degrees of radical scavenging activities (35.37%-77.23%), with Fusarium fujikuroi (D1) identified as having the highest antioxidant capacity (IC50 6.097 mg/mL) and the highest AEAC value (11.55  mg/g). For L-asparaginase production, the majority of the isolates (89.66%) showed positive results, especially among the culturable species of Fusarium, Trichoderma, and Daldinia. Most Fusarium spp. were able to produce L-asparaginase (80.77%), but the highest L-asparaginase activity was detected in Daldinia eschscholtzii (D14) with 2.128 units/mL. Results from this study highlighted the potential of endophytic fungi from medicinal orchids (Dendrobium sp.) as natural sources of bioactive compounds to be developed into novel antioxidants and anticancer drugs.


Assuntos
Antineoplásicos , Dendrobium , Fungos , Asparaginase , Antioxidantes/farmacologia , Endófitos
4.
Int Microbiol ; 2023 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-37975992

RESUMO

This study characterized and identified the antimicrobial compounds from an endophytic fungus (Fusarium incarnatum (C4)) isolated from the orchid, Cymbidium sp. Chromatographic techniques were employed to separate the bioactive compounds from the crude extracts of F. incarnatum (C4). Following bio-guided fractionation, two fractionated extracts (fractions 1 and 2) of F. incarnatum (C4) exhibited antibacterial and antifungal activities against Bacillus cereus (MIC: 0.156 mg/mL) and Ganoderma boninense (MIC: 0.3125 mg/mL), respectively. The active fractions were discovered to comprise of a variety of bioactive compounds with pharmacological importance (alkaloids, flavonoids, phenolic compounds, terpenoids, peptides and fatty acids). Liquid chromatography mass-spectrometry (LCMS) analysis detected the presence of antibacterial (kanzonol N, rifaximin, linoleic acid (d4), cannabisativine, docosanedioic acid, and stearamide) and antifungal components (3-methyl-quinolin-2-ol, prothiocarb, kanzonol N, peganine, 5Z-tridecene, and tetronasin) in fractions 1 and 2, respectively, which may have contributed to the antimicrobial effects. Findings from this study highlighted the important potential of fungal endophytes from medicinal hosts as producers of antimicrobials and antibiotics.

5.
Artigo em Inglês | MEDLINE | ID: mdl-37995083

RESUMO

This study profiled the various endophytic fungi isolated from the orchid Cymbidium sp. and their L-asparaginase production and antioxidant potential. The L-asparaginase production was first screened through qualitative plate screening then quantified by the Nesslerization method. The antioxidant potential was quantified via the 2,2-diphenyl-1-picrylhydrazyl assay. A total of 30 endophytic fungi were isolated and all fungal isolates exhibited various degrees of radical scavenging activities (45.28% to 76.4%). Isolate Lasiodiplodia theobromae (C11) had the highest antioxidant capacity, represented by the lowest IC50 value (5.75 mg/mL) and highest ascorbic acid equivalent antioxidant capacity value (12.17 mg/g). Additionally, 16 isolates produced L-asparaginase (53.33%), which includes primarily species of Fusarium proliferatum, Fusarium fujikuroi, Fusarium incarnatum, and Fusarium oxysporum. A new isolate has also been discovered from Cymbidium orchid, Buergenerula spartinae (C28), which showed the highest L-asparaginase activity (1.736 unit/mL). These findings supported the postulation that medicinal species of Orchidaceae such as Cymbidium sp. harbor endophytes that are producers of L-asparaginase and antioxidants with various potential applications.

6.
J Food Sci Technol ; 60(12): 2978-2989, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37786603

RESUMO

Fresh food products are highly prone to oxidation and microbial attack, rendering them unsuitable for consumption. Thus, active food packaging was developed to protect and prolong food shelf-life. Zein/gellan gum (GG) based active film is developed by incorporating rosemary oleoresin extract (ROE) (0-20%). The films were characterized by their barrier and antioxidant properties. The release behavior of ROE in fatty and hydrophilic food stimulants was investigated via mathematical modeling. The active films incorporated with 20% ROE have significantly higher oxygen barrier and oxygen transfer is reduced by 20% compared to the control. A tortuous path is created with ROE, which impedes oxygen movement across the film. ROE addition improved water resistance performance by reducing the active film swelling ratio by 31%. This improvement is attributed to the hydrophobic nature of ROE. FTIR shows that the interaction between ROE and the active film is primarily hydrogen bonding and electrostatic interactions. Active film exhibits excellent antioxidant activity, with high TPC, DPPH scavenging activity, and FRAP. Mathematical modeling revealed a higher diffusivity (D) of ROE in fatty food stimulants at 24 °C, attributed to high polarity and solubility in fatty food stimulants. Overall, this active film has an excellent antioxidant effect and could potentially be used as food packaging for high-fat food products to prevent oxidation.

7.
Brain Behav ; 13(11): e3258, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37849450

RESUMO

BACKGROUND AND AIM: Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive decline contributes to the loss of daily activity in manifest HD. We aimed to examine the cognition status in a Chinese HD cohort and explore factors influencing the diverse cognitive domains. METHODS: A total of 205 participants were recruited in the study with the assessment by neuropsychological batteries, including the mini-mental state examination (MMSE), Stroop test, symbol digit modalities test (SDMT), trail making test (TMT), verbal fluency test (VFT), and Hopkins verbal learning test-revised, as well as motor and psychiatric assessment. Pearson correlation and multiple linear regression models were applied to investigate the correlation. RESULTS: Only 41.46% of patients had normal global function first come to our center. There was a significantly difference in MMSE, Stroop test, SDMT, TMT, and VFT across each stage of HD patients (p < .05). Apathy of PBA-s was correlated to MMSE, animal VFT and Stroop-interference tests performance. Severity of motor symptoms, functional capacity, age, and age of motor symptom onset were correlated to all neuropsychological scores, whereas education attainment and diagnostic delay were correlated to most neuropsychological scores except TMT. Severity of motor symptoms, functional capacity, and education attainment showed independent predicting effect (p < .05) in diverse cognitive domains. CONCLUSION: Cognitive impairment was very common in Chinese HD patients at the first visit and worse in the patients in advanced phase. The severity of motor symptoms and functional capacity were correlated to the diverse cognitive domains.


Assuntos
Transtornos Cognitivos , Doença de Huntington , Humanos , Cognição , Transtornos Cognitivos/diagnóstico , Estudos Transversais , Diagnóstico Tardio , Doença de Huntington/complicações , Testes Neuropsicológicos
8.
Antonie Van Leeuwenhoek ; 116(10): 1057-1072, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37597137

RESUMO

A rare fungal endophyte, identified as Buergenerula spartinae (C28), was isolated from the roots of Cymbidium orchids and was characterised and evaluated for its antimicrobial activities. Bio-guided fractionation revealed 4 fractions from B. spartinae (C28) having antibacterial activities against at least one bacterial pathogen tested (Bacillus cereus and Staphylococcus aureus). However, inhibitory activities were absent against pathogenic fungi (Ganoderma boninense, Pythium ultimum and Fusarium solani). Fraction 2 and fraction 4 of B. spartinae (C28) exhibited potent antibacterial activities against S. aureus (MIC: 0.078 mg/mL) and B. cereus (MIC: 0.313 mg/mL), respectively. LCMS analysis revealed the presence of antibacterial agents and antibiotics in fraction 2 (benoxinate, pyropheophorbide A, (-)-ormosanine and N-undecylbenzenesulfonic acid) and fraction 4 (kaempferol 3-p-coumarate, 6-methoxy naphthalene acetic acid, levofuraltadone, hinokitiol glucoside, 3-α(S)-strictosidine, pyropheophorbide A, 5'-hydroxystreptomycin, kanzonol N and 3-butylidene-7-hydroxyphthalide), which may be responsible for the antibacterial activities observed. Most of the bioactive compounds profiled from the antibacterial fractions were discovered for the first time from endophytic isolates (i.e. from B. spartinae (C28)). Buergenerula spartinae (C28) from Cymbidium sp. is therefore, an untapped resource of bioactive compounds for potential applications in healthcare and commercial industries.


Assuntos
Anti-Infecciosos , Ascomicetos , Staphylococcus aureus , Anti-Infecciosos/farmacologia , Antibacterianos/farmacologia
9.
Int J Urol ; 30(8): 666-671, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37150512

RESUMO

OBJECTIVES: To report a novel corporoplasty technique with a urethral plate flap in hypospadias repair and evaluate its safety and efficacy for ventral lengthening. METHODS: Data were retrospectively collected from consecutive patients with hypospadias who underwent urethral plate flap corporoplasty between July 2021 and March 2022. All patients underwent hypospadias repair using the Duckett technique. The corporoplasty procedure involved the following key steps: the half-spongiosum of the urethral plate was harvested as a flap (with a pedicle attached to the corpus cavernosum); a transverse incision of the tunica albuginea was made adjacent to the pedicle; and the flap was patched onto the corporal defect. RESULTS: The study included 10 patients, with a median age of 20 months. The initial meatal location was penile in two patients, penoscrotal in four patients, and scrotal in four patients. The median ventral curvature was 45° after degloving and urethral plate transection. The median ventral lengthening distance proportional to penis length was 0.21. During the median follow-up of 13.8 months, complications occurred in three cases, including two cases of fistula and one case of urethral stricture with secondary diverticulum. No cases of recurrent ventral curvature, meatal stenosis, or urethral dehiscence were noted. Postoperative ultrasonography showed a good continuation of the tunica albuginea and integrity of the stratum spongiosum at the corporoplasty site. CONCLUSIONS: Urethral plate flap corporoplasty is a simple and effective ventral lengthening procedure. The novel corporoplasty technique allows for anatomical and architectural repair of corporal disproportion.


Assuntos
Hipospadia , Procedimentos de Cirurgia Plástica , Estreitamento Uretral , Masculino , Humanos , Lactente , Hipospadia/cirurgia , Estudos Retrospectivos , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Uretra/cirurgia , Procedimentos de Cirurgia Plástica/efeitos adversos , Pênis/cirurgia , Estreitamento Uretral/cirurgia , Resultado do Tratamento
10.
Psychiatry Investig ; 20(1): 1-8, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36721880

RESUMO

OBJECTIVE: Patients with schizophrenia are living at the border of society and their sexuality is often neglected. The aim of the study is to explore the association among The Brief Psychiatric Rating Scale (BPRS), quality of life (QoL), Taiwanese Depression Questionnaire, and Sexual Desire Inventory in people with schizophrenia (PwS). METHODS: This study used a cross-sectional design with 277 psychiatric inpatients. A descriptive analysis, difference analysis, and logistic regression model were presented to identify relevant variables that may affect the probability of good QoL. RESULTS: The study showed that male PwS had higher scores of standard deviation (SD) than females in PwS. The study also showed that smoking, early illness onset age, and shorter illness duration demonstrated a significantly higher SD. The logistic regression analysis showed that BPRS, depression, and SD significantly affected the probability of QoL. By structural equation model, SD would be positively correlated with mental status and SD would indirectly influence QoL. CONCLUSION: Our results showed psychological and sociological factors interactions may contribute to the QoL and SD for PwS. This study also demonstrated a close relationship between SD, depression, and BPRS. These factors may predict the probability of good life quality for the PwS.

11.
Huan Jing Ke Xue ; 44(1): 138-157, 2023 Jan 08.
Artigo em Chinês | MEDLINE | ID: mdl-36635803

RESUMO

This study reviewed the spatial and temporal distributions of polycyclic aromatic hydrocarbons (PAHs) during 2000-2010 in inland sediments of China and quantified the underlying socioeconomic determinants based on the structural equation model and gravity model. We found that PAHs concentrations in the sediments of eight different regions followed the order of Northern coast>Northeast>Eastern coast>Southern coast>Middle Yellow River>Middle Yangtze River>Southwest>Northwest. The Southern coast, Middle Yangtze River, and Southern coast regions showed large contributions to the high-molecular weight PAHs, whereas the Northeast, Northwest, and Middle Yellow River regions showed high contributions to the low-molecular weight PAHs. PAHs concentrations continuously increased from the year 2000 followed by a gradual decline after 2006, with significant differences in the year when PAHs levels reached their peak. PAHs concentrations of sediment in developed regions declined in recent years following a continuous increase in the 2000s; however, they still increased rapidly in developing regions owing to fast economic development. In addition, the increment rate of PAHs concentrations in sediment at the remote or less-developed regions was slower than that at the developed regions. Urbanization and industrialization had an important effect on PAHs in the sediments, and the largest influencing factor was the economic development.


Assuntos
Hidrocarbonetos Policíclicos Aromáticos , Poluentes Químicos da Água , Hidrocarbonetos Policíclicos Aromáticos/análise , Poluentes Químicos da Água/análise , Sedimentos Geológicos/química , Monitoramento Ambiental , China , Rios/química
12.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-968556

RESUMO

Objective@#Patients with schizophrenia are living at the border of society and their sexuality is often neglected. The aim of the study is to explore the association among The Brief Psychiatric Rating Scale (BPRS), quality of life (QoL), Taiwanese Depression Questionnaire, and Sexual Desire Inventory in people with schizophrenia (PwS). @*Methods@#This study used a cross-sectional design with 277 psychiatric inpatients. A descriptive analysis, difference analysis, and logistic regression model were presented to identify relevant variables that may affect the probability of good QoL. @*Results@#The study showed that male PwS had higher scores of standard deviation (SD) than females in PwS. The study also showed that smoking, early illness onset age, and shorter illness duration demonstrated a significantly higher SD. The logistic regression analysis showed that BPRS, depression, and SD significantly affected the probability of QoL. By structural equation model, SD would be positively correlated with mental status and SD would indirectly influence QoL. @*Conclusion@#Our results showed psychological and sociological factors interactions may contribute to the QoL and SD for PwS. This study also demonstrated a close relationship between SD, depression, and BPRS. These factors may predict the probability of good life quality for the PwS.

13.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-982296

RESUMO

OBJECTIVE@#To investigate the effects of Tongxinluo (TXL) on thromboangiitis obliterans (TAO) and the underlying mechanisms.@*METHODS@#Ninety male C57/BL6J mice were randomly divided into 6 groups according to a random number table: the sham group, TAO model group, Compound Danshen Tablet (CDT) group, and the high-, medium-, and low-dose TXL groups. All mice except the sham group were injected with sodium laurate (0.1 mL, 5 mg/mL) in the femoral artery to establish TAO mouse model. After modeling, mice in the sham and TAO model groups were intragastrically administered 0.5% (w/v) sodium carboxymethylcellulose, mice in the CDT group were intragastrically administered 0.52 g/kg CDT, and mice in the TXL-H, TXL-M, and TXL-L groups were intragastrically administered 1.5, 0.75, and 0.38 g/kg TXL, respectively. After 4 weeks of gavage, the recovery of blood flow in the lower limbs of mice was detected by Laser Doppler Imaging. The pathological changes and thrombosis of the femoral artery were observed by morphological examination. The expressions of tumor necrosis factor α (TNF-α) and inducible nitric oxide synthase (iNOS) in the femoral artery wall were detected by HE staining. Levels of thromboxane B2 (TXB2), 6-keto-prostaglandin F1α (6-keto-PGF1α), endothelin-1 (ET-1), interleukin (IL)-1β and IL-6 were measured using enzyme-linked immunosorbent assay (ELISA). Levels of activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT) and fibrinogen (FIB) were detected by a fully automated biochemical analyzer.@*RESULTS@#TXL promoted the restoration of blood flow in the lower limbs, reduced the area of thrombosis in the femoral artery, and alleviated the pathological changes in the femoral artery wall. Moreover, the levels of TXB2, ET-1, IL-6, IL-1β, TNF-α and iNOS were significantly lower in the TXL groups compared with the model group (P<0.05 or P<0.01), while the level of 6-keto-PGF1α was significantly higher (P<0.01). In addition, APTT, PT, and TT were significantly prolonged in TXL groups compared with the model group (P<0.05 or P<0.01), and FIB levels were significantly decreased compared with the model group (P<0.01).@*CONCLUSIONS@#TXL had a protective effect on TAO mice, and the mechanism may involve inhibition of thrombosis and inflammatory responses. TXL may be a potential drug for the treatment of TAO.


Assuntos
Camundongos , Masculino , Animais , Tromboangiite Obliterante/induzido quimicamente , Interleucina-6/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Trombose
14.
Acta Physiologica Sinica ; (6): 515-520, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1007766

RESUMO

Pulmonary fibrosis is a severe lung interstitial disease characterized by the destruction of lung tissue structure, excessive activation and proliferation of fibroblasts, secretion and accumulation of a large amount of extracellular matrix (ECM), and impaired lung function. Due to the complexity of the disease, a suitable animal model to mimic human pulmonary fibrosis has not yet been established. Precision-cut lung slice (PCLS) has been a widely used in vitro method to study lung physiology and pathogenesis in recent years. This method is an in vitro culture technology at the level between organs and cells, because it can preserve the lung tissue structure and various types of airway cells in the lung tissue, simulate the in vivo lung environment, and conduct the observation of various interactions between cells and ECM. Therefore, PCLS can compensate for the limitations of other models such as cell culture. In order to explore the role of discoidin domain receptor 2 (DDR2) in pulmonary fibrosis, Ddr2flox/flox mice were successfully constructed. The Cre-LoxP system and PCLS technology were used to verify the deletion or knockdown of DDR2 in mouse PCLS. Transforming growth factor β1 (TGF-β1) can induce fibrosis of mouse PCLS in vitro, which can simulate the in vivo environment of pulmonary fibrosis. In the DDR2 knock down-PCLS in vitro model, the expression of various fibrosis-related factors induced by TGF-β1 was significantly reduced, suggesting that knocking down DDR2 can inhibit the formation of pulmonary fibrosis. The results provide a new perspective for the clinical study of DDR2 as a therapeutic target in pulmonary fibrosis.


Assuntos
Animais , Humanos , Camundongos , Receptor com Domínio Discoidina 2/metabolismo , Fibroblastos/patologia , Fibrose , Pulmão/patologia , Fibrose Pulmonar/metabolismo , Fator de Crescimento Transformador beta1/metabolismo
15.
J Biotechnol ; 360: 142-151, 2022 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-36343755

RESUMO

The thermal stability of enzymes dramatically limits their application in the industrial field. Based on the crystal structure, we conducted a semi-rational design according to the B-factor and free energy values to improve the stability of dextranase from Streptococcus mutans (SmdexTM). The B-factor values of Asn102, Asn503, Asp501 and Asp500 were the highest predicted by B-FITTER. Then Rosetta was used to simulate the saturation mutations of Asn102, Asn503, Asp501 and Asp500. The mutated amino acid was designed according to the change of acG. The results showed that the thermal stability of N102P, N102C, D500G, and D500T was improved, and the half-lives of N102P/D500G and N102P/D500T at 45 °C were increased to 3.14 times and 2.44 times, respectively. Analyzing the interaction of amino acids by using Discovery Studio 4.5, it was observed that the thermal stability of dextranase was improved due to the increase in hydrophobicity and the number of hydrogen bonds of the mutant enzyme. The catalytic efficiency of N102P/D500T was increased. Compared with the hydrolyzed products of SmdexTM, the mutant enzymes do not change the specificity of hydrolysates.


Assuntos
Dextranase , Streptococcus mutans , Streptococcus mutans/genética , Dextranase/biossíntese , Estabilidade Enzimática
16.
Front Public Health ; 10: 756382, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35968443

RESUMO

Disorders of sexual development (DSD) refer to the congenital abnormalities of chromosomes, gonads, or gender anatomy. Children with DSD usually experience more stress. The present study aims to evaluate the mental health status of children with DSD, and to explore the potential relevant factors. We included 30 children with DSD and 30 age- and gender-matched children without DSD as the control group. All the children and their parents completed the scales of the Hamilton Anxiety Scale (HAMA). Children over 8 years old (n = 22) completed the Screen Scale for Child Anxiety Related Emotional Disorders (SCARED), the Depression Self-rating Scale for Children (DSRSC), and the Egna Minnen av Barndoms Uppfostran-own memories of parental rearing practices in childhood. DSD children had significantly higher somatic anxiety, mental anxiety, and total anxiety scores than the control group (p < 0.001). The scores of the SCARED, anxiety, and depression subscales of DSD children were higher than those of control children (p < 0.05 and p < 0.001, respectively). The correlation analysis showed that the score of generalized anxiety was positively related to age and entertainment. The regression analysis showed that age was a major factor that affected generalized anxiety in DSD children, and neuroticism was a major factor of anxiety disorder and separation anxiety in DSD children. Children with DSD have obvious anxiety problems, which are associated with family environmental factors (entertainment, success, and conflicts) and age. It is important to focus emphasis on emotional stability in children with DSD for detecting anxiety-related emotional disorders early.


Assuntos
Transtornos de Ansiedade , Transtornos do Desenvolvimento Sexual , Ansiedade/epidemiologia , Transtornos de Ansiedade/epidemiologia , Criança , Transtornos do Desenvolvimento Sexual/epidemiologia , Nível de Saúde , Humanos , Escalas de Graduação Psiquiátrica
17.
BMC Med Genomics ; 15(1): 178, 2022 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-35971145

RESUMO

BACKGROUND: Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Mutations in various genes can impede gonadal development, hormone synthesis, or hormone function and cause DSD. METHODS: Exome sequencing was performed for two siblings with 46,XY DSD. All mutations identified by exome sequencing were confirmed by Sanger sequencing. RESULTS: The 13-month-old younger sibling had a female appearance of the external genital with a clitoris that was assessed as Prader III and scored 2 in the external masculinization score evaluative test. The 16-year-old elder sibling had severe hypospadias. Exome sequencing revealed compound heterozygous mutations in exon 3 of DHH in the siblings with 46,XY DSD. The frameshift mutation (NM_021044.3: c.602delC) was derived from the father and was predicted to be deleterious. The (c.937G > T) substitution mutation was derived from the mother. CONCLUSIONS: Novel compound heterozygous mutations of DHH led to 46,XY DSD in two siblings. This study expands the phenotypic mutation spectra of DHH in patients with 46,XY DSD.


Assuntos
Transtorno 46,XY do Desenvolvimento Sexual , Transtornos do Desenvolvimento Sexual , Proteínas Hedgehog , Adolescente , Transtorno 46,XY do Desenvolvimento Sexual/genética , Feminino , Proteínas Hedgehog/genética , Hormônios , Humanos , Lactente , Masculino , Mutação , Irmãos
18.
Eur J Neurol ; 29(11): 3218-3228, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35861376

RESUMO

BACKGROUND AND PURPOSE: Recent genetic progress has shown many causative/risk genes linked to Parkinson's disease (PD), mainly in patients of European ancestry. The study aimed to investigate the PD-related genes and determine the mutational spectrum of early-onset PD in ethnic Chinese. METHODS: In this study, whole-exome sequencing and/or gene dosage analysis were performed in 704 early-onset PD (EOPD) patients (onset age ≤45 years) and 1866 controls. Twenty-six PD-related genes and 20 other genes linked to neurodegenerative and lysosome diseases were analysed. RESULTS: Eighty-two (11.6%, 82/704) EOPD patients carrying rare pathogenic/likely pathogenic variants in PD-related genes were identified. The mutation frequency in autosomal recessive inheritance EOPD (42.9%, 27/63) was much higher than that in autosomal dominant inheritance EOPD (0.9%, 12/110) or sporadic EOPD (8.1%, 43/531). Bi-allelic mutations in PRKN were the most frequent, accounting for 5.1% of EOPD cases. Three common pathogenic variants, p.A53V in SNCA, p.G284R in PRKN and p.P53Afs*38 in CHCHD2, occur exclusively in Asians. The putative damaging variants from GBA, PRKN, DJ1, PLA2G6 and GCH1 contributed to the collective risk for EOPD. Notably, the protein-truncating variants in CHCHD2 were enriched in EOPD, especially for p.P53Afs*38, which was also found in three patients from an independent cohort of patients with late-onset PD (n = 1300). Functional experiments confirmed that truncated CHCHD2 variants cause loss of function and are linked to mitochondrial dysfunction. CONCLUSIONS: Our study reveals that the genetic spectrum of EOPD in Chinese, which may help develop genetic scanning strategies, provided more evidence supporting CHCHD2 in PD.


Assuntos
Doença de Parkinson , Idade de Início , Povo Asiático/genética , China , Proteínas de Ligação a DNA/genética , Humanos , Pessoa de Meia-Idade , Mutação , Doença de Parkinson/genética , Fatores de Transcrição/genética
19.
Plant Cell ; 34(10): 3702-3717, 2022 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-35758611

RESUMO

High temperatures interfere with meiotic recombination and the subsequent progression of meiosis in plants, but few genes involved in meiotic thermotolerance have been characterized. Here, we characterize a maize (Zea mays) classic dominant male-sterile mutant Ms42, which has defects in pairing and synapsis of homologous chromosomes and DNA double-strand break (DSB) repair. Ms42 encodes a member of the heat shock protein family, HSP101, which accumulates in pollen mother cells. Analysis of the dominant Ms42 mutant and hsp101 null mutants reveals that HSP101 functions in RADIATION SENSITIVE 51 loading, DSB repair, and subsequent meiosis. Consistent with these functions, overexpression of Hsp101 in anthers results in robust microspores with enhanced heat tolerance. These results demonstrate that HSP101 mediates thermotolerance during microsporogenesis, shedding light on the genetic basis underlying the adaptation of male meiocytes to high temperatures.


Assuntos
Termotolerância , Zea mays , Pareamento Cromossômico , DNA/metabolismo , Proteínas de Choque Térmico/genética , Proteínas de Choque Térmico/metabolismo , Meiose/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Termotolerância/genética , Zea mays/genética , Zea mays/metabolismo
20.
PLoS One ; 17(3): e0265572, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35303034

RESUMO

To solve the problems in the existing fully homomorphic encryption (FHE)-based secure multi-party computation (SMC) protocols such as low efficiency, the FHE scheme that supports multi-bit encryption was modified during the generation of the public key so that the users could generate their public keys independently without the common random string (CRS) matrix. Further, a multi-bit Gentry-Sahai-Waters scheme (MGSW) scheme without CRS was constructed. The modified LinkAlgo algorithm was adopted to expand the single-key ciphertext into the multi-key ciphertext and simplify the way of generating the expanded ciphertext. In this way, a multi-key FHE (MFHE) scheme was achieved based on the MGSW scheme. Finally, a three-round SMC protocol without CRS was constructed using the MFHE scheme and the decisional learning with errors (DLWE) assumption, which was secure in the semi-malicious model. Compared to the existing protocols, the protocol proposed herein can support multi-bit encryption and is found with smaller ciphertext size and lower storage overhead and generate the expanded ciphertext in a simpler way. Overall performance is better than existing protocols.


Assuntos
Algoritmos , Segurança Computacional , Registros
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