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1.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(1): 5-10, 2023 Jan 15.
Artigo em Chinês | MEDLINE | ID: mdl-36655657

RESUMO

OBJECTIVES: To study the clinical features of children with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant infection. METHODS: A retrospective analysis was performed on the medical data of 201 children with coronavirus disease 2019 (COVID-19) who were hospitalized and diagnosed with SARS-CoV-2 Omicron variant infection in Quanzhou First Hospital from March 14 to April 7, 2022. Among the 201 children, there were 34 children with asymptomatic infection and 167 with symptomatic infection. The two groups were compared in terms of clinical features, results of experimental examinations, and outcome. RESULTS: Of all the 201 children, 161 (80.1%) had a history of exposure to COVID-19 patients and 132 (65.7%) had a history of COVID-19 vaccination. Among the 167 children with symptomatic infections, 151 had mild COVID-19 and 16 had common COVID-19, with no severe infection or death. Among the 101 children who underwent chest CT examination, 16 had ground glass changes and 20 had nodular or linear opacities. The mean time to nucleic acid clearance was (14±4) days for the 201 children with Omicron variant infection, and the symptomatic infection group had a significantly longer time than the asymptomatic infection group [(15±4) days vs (11±4) days, P<0.05]. The group vaccinated with one or two doses of COVID-19 vaccine had a significantly higher positive rate of IgG than the group without vaccination (P<0.05). The proportions of children with increased blood lymphocyte count in the symptomatic infection group was significantly lower than that in the asymptomatic infection group (P<0.05). Compared with the asymptomatic infection group, the symptomatic infection group had significantly higher proportions of children with increased interleukin-6, increased fibrinogen, and increased D-dimer (P<0.05). CONCLUSIONS: Most of the children with Omicron variant infection have clinical symptoms, which are generally mild. The children with symptomatic infection are often accompanied by decreased or normal blood lymphocyte count and increased levels of interleukin-6, fibrinogen, and D-dimer, with a relatively long time to nucleic acid clearance. Some of them had ground glass changes on chest CT.


Assuntos
COVID-19 , Ácidos Nucleicos , Criança , Humanos , Infecções Assintomáticas , COVID-19/diagnóstico , COVID-19/imunologia , COVID-19/virologia , Vacinas contra COVID-19 , Fibrinogênio , Interleucina-6 , Estudos Retrospectivos , SARS-CoV-2
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(2): 222-226, 2022 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-35076925

RESUMO

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome. METHODS: The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out. RESULTS: The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved. CONCLUSION: The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.


Assuntos
Perda Auditiva Neurossensorial , Hipoparatireoidismo , Rim/anormalidades , Anormalidades Urogenitais , Variações do Número de Cópias de DNA , Perda Auditiva Neurossensorial/genética , Humanos , Hipoparatireoidismo/genética , Recém-Nascido , Masculino , Síndrome , Anormalidades Urogenitais/genética
3.
J Clin Lab Anal ; 34(4): e23127, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31774213

RESUMO

BACKGROUND: The information regarding viral epidemiology and clinical characteristics in hospitalized children with acute respiratory tract infection (ARTI) in central Fujian is limited. In this study, we aimed at analyzing the viral epidemiology and clinical characteristics of ARTI in hospitalized children admitted to The First Affiliated Hospital of Fujian Medical University. METHODS: Cohort of 386 hospitalized children (31 days to 15 years) diagnosed with ARTI admitted to the Department of Pediatrics from January 1, 2018, to December 31, 2018, was enrolled in this study. Nasopharyngeal swab or sputum samples on the day of hospitalization were tested for 11 viruses via a GeXP-based multiplex-PCR assay. The viral profiles and clinical characteristics were analyzed. RESULTS: The overall positive rate of the samples was 43.26% (167/386). Among the 167 positive samples, 134 (80.24%, 134/167) had a single virus and 33 (19.76%, 33/167) had multiple viruses. There was a significant difference in the frequency of single vs mixed infections among positive samples (80.24% vs 19.76%; χ2  = 122.168, P = .000) as well as among the total examined samples (34.72% vs 8.55%; χ2  = 77.945, P = .000). Human rhinovirus was the most prevalent virus (17.36%, 67/386), followed by influenza A (5.96%, 23/386) and human adenovirus (5.70%, 22/386). There was no significant difference in the etiological distribution of viral pathogens between males and females (χ2  = 0.480, P = .489). Viral infections were more likely to occur in the winter-spring months than in the summer-autumn months (52.51% vs 33.53%, χ2  = 13.830, P = .000). CONCLUSIONS: The GeXP-based multiplex PCR is an accurate and high-throughput assay allows us to quickly detect multiple respiratory viruses simultaneously in pediatric patients. Our study provides information on the viral profiles and clinical characteristics in hospitalized children with ARTI, which would help better effective prevention strategies.


Assuntos
Reação em Cadeia da Polimerase Multiplex/métodos , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/virologia , Infecções por Adenovirus Humanos/epidemiologia , Infecções por Adenovirus Humanos/virologia , Adolescente , Distribuição por Idade , Criança , Criança Hospitalizada/estatística & dados numéricos , Pré-Escolar , China/epidemiologia , Feminino , Humanos , Lactente , Influenza Humana/epidemiologia , Influenza Humana/virologia , Masculino , Infecções por Picornaviridae/epidemiologia , Infecções por Picornaviridae/virologia , Infecções Respiratórias/genética , Estações do Ano , Distribuição por Sexo , Escarro/virologia
4.
Beilstein J Org Chem ; 16: 645-656, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32318121

RESUMO

The reductive carbonylation of aryl iodides to aryl aldehydes possesses broad application prospects. We present an efficient and facile Rh-based catalytic system composed of the commercially available Rh salt RhCl3·3H2O, PPh3 as phosphine ligand, and Et3N as the base, for the synthesis of arylaldehydes via the reductive carbonylation of aryl iodides with CO and H2 under relatively mild conditions with a broad substrate range affording the products in good to excellent yields. Systematic investigations were carried out to study the experimental parameters. We explored the optimal ratio of Rh salt and PPh3 ligand, substrate scope, carbonyl source and hydrogen source, and the reaction mechanism. Particularly, a scaled-up experiment indicated that the catalytic method could find valuable applications in industrial productions. The low gas pressure, cheap ligand and low metal dosage could significantly improve the practicability in both chemical researches and industrial applications.

5.
Environ Toxicol ; 32(3): 877-889, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27203204

RESUMO

Maternal exposure to airborne particulate matter with aerodynamic diameter <2.5 µm (PM2.5 ) during pregnancy and lactation periods is associated with filial congenital cardiovascular diseases. This study aimed to investigate the toxic effects of maternal exposure to ambient levels of PM2.5 on filial cardiovascular maldevelopment induced by homocysteine. Using a 2 × 2 factorial design, rats were randomized into four groups and were exposed to ambient PM2.5 or filtered air (FA) throughout the pregnancy and lactation periods coupled with the administration of either homocysteine (HCY) or normal saline (NS) daily from gestation days 8-10. Morphological changes in the heart, myocardial apoptosis, expressions of cardiac progenitor transcriptional factors, and levels of cytokines were investigated in the offspring. The apoptosis-like changes in the myocardium were seen in the FA plus HCY-treated group and more obviously in the PM2.5 plus HCY-treated group, which was in accordance with an increased myocardial apoptosis rate in the two groups. PM2.5 exposure resulted in significantly decreased Nkx2-5 protein level and GATA4 and Nkx2-5 mRNA expressions, and significantly increased TNF-α and IL-1ß levels. There were significant interactions between PM2.5 exposure and HCY-treatment that PM2.5 exposure reduced Nkx2-5 protein levels and GATA4 and Nkx2-5 mRNA expressions in the HCY-treated groups. These results suggest that maternal exposure to PM2.5 , even at the ambient levels in urban regions in China, exaggerates filial cardiovascular maldevelopment induced by HCY in a murine model, exacerbating structural abnormalities in the filial cardiac tissue, which is possibly associated with oxidative stress and reduced GATA4 and Nkx2-5 transcription factor expressions. © 2016 Wiley Periodicals, Inc. Environ Toxicol 32: 877-889, 2017.


Assuntos
Coração/efeitos dos fármacos , Homocisteína/farmacologia , Miocárdio/metabolismo , Material Particulado/toxicidade , Animais , Regulação para Baixo/efeitos dos fármacos , Ensaio de Imunoadsorção Enzimática , Feminino , Fator de Transcrição GATA4/genética , Fator de Transcrição GATA4/metabolismo , Proteína Homeobox Nkx-2.5/genética , Proteína Homeobox Nkx-2.5/metabolismo , Interleucina-1beta/sangue , Masculino , Exposição Materna , Miocárdio/patologia , Estresse Oxidativo/efeitos dos fármacos , Gravidez , Ratos , Ratos Sprague-Dawley , Reação em Cadeia da Polimerase em Tempo Real , Fator de Necrose Tumoral alfa/sangue
6.
Clin Transl Oncol ; 2024 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-39110396

RESUMO

OBJECTIVE: The aim of this study is to assess the efficacy of the doctor-nurse-patient workshop transitional care model on post-operative care for patients with laryngeal cancer and its influence on quality of life. METHODS: A total of 68 patients with laryngeal cancer who underwent surgical treatment at the hospital between 2021 and 2022 were included in the study. The patients were divided into two groups, a control group and a research group, each consisting of 34 patients, based on the chronological sequence of their surgeries. Patients in the control group received standard nursing care, while those in the research group received the doctor-nurse-patient workshop transitional care model in addition to standard nursing care. After 2 months of care, levels of albumin (ALB), total protein (TP), hemoglobin (Hb), and quality of life scores (measured using the Quality of Life Instrument for Head and Neck Cancer, QLICP-HN) were compared between the two groups. Additionally, the incidence of adverse events during the recovery period was assessed and compared between the two groups. RESULTS: Following 2 months of care, patients in the research group exhibited elevated ALB, TP, and Hb levels compared to those in the control group. Additionally, the average QLICP-HN scores were higher in the research group, while the incidence of adverse events was lower compared to the control group. CONCLUSION: Implementing the doctor-nurse-patient workshop transitional care model in home care for patients with laryngeal cancer can enhance their nutritional status post-surgery and improve their quality of life during home rehabilitation. This, in turn, leads to a reduction in the incidence of adverse events and complications during the recovery period.

7.
Int J Pediatr Otorhinolaryngol ; 181: 111991, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38815347

RESUMO

OBJECTIVE: To investigate whether the child-centered treatment significantly increased satisfaction as revealed by CBCL scores and decreased duration of nasal endoscopy. METHODS: A total of 206 pediatric patients were selected as study participants. Using a random number table, the participants were divided into the control group and the treatment group, with 103 cases in each group. The control group received routine nursing care, whereas the treatment group received child-centered health education nursing intervention. The differences between the two groups were observed in four aspects: examination compliance, child behavior checklist (CBCL) scores, the satisfaction level of the patient's family with the nurses in the endoscopy room, and the average duration of the nasal endoscopy. RESULTS: Subsequent to the implementation of the intervention, it was observed that within the treatment group, the level of compliance among pediatric patients undergoing nasal endoscopy exhibited a statistically significant increase when compared to the control group; the CBCL scores of both groups were lower than those before nursing care, and those of the treatment group were statistically significantly lower than those of the control group; the satisfaction rate of the patient's family in two groups was 74 % and 90 %, respectively. The average duration of nasal endoscopy was statistically significantly lower in the treatment group than that in the control group. CONCLUSIONS: The implementation of a child-centered health education nursing intervention for pediatric patients undergoing nasal endoscopy has been shown to effectively mitigate instances of crying and screaming, enhance patient compliance, reduce examination duration, and elevate the overall satisfaction levels among their respective families.


Assuntos
Endoscopia , Assistência Centrada no Paciente , Humanos , Masculino , Criança , Feminino , Endoscopia/métodos , Pré-Escolar , Satisfação do Paciente/estatística & dados numéricos , Cooperação do Paciente/estatística & dados numéricos , Enfermagem Pediátrica
8.
Se Pu ; 42(3): 275-281, 2024 Mar 08.
Artigo em Chinês | MEDLINE | ID: mdl-38503704

RESUMO

A non-invasive condensation collection-ion chromatography method was established for the determination of organic acids and anions including lactic acid, formic acid, acetic acid, pyruvic acid, chloride, nitrate, nitrite, and sulfate in the exhaled breath of humans. The breath exhaled was condensed and collected using a home-made exhaled breath condensation equipment. This equipment included a disposable mouthpiece as a blow-off port, one-way valve and flow meter, cold trap, disposable condensate collection tube placed in the cold trap, and gas outlet. A standard sampling procedure was used. Before collection, the collection temperature and sampling volume were set on the instrument control panel, and sampling was started when the cold-trap temperature dropped to the set value, while maintaining the balance. Subjects were required to gargle with pure water before sampling. During the sampling process, the subjects were required to inhale deeply until the lungs were full of gas and then exhale evenly through the air outlet. When the set volume was collected, the instrument made a prompt sound; then, the collection was immediately ended, the expiration time was recorded, and the average collection flow was calculated according to the expiration time and sampling volume. After collection, the disposable condensation collection tube was immediately taken out, sealed, and stored in the refrigerator at -20 ℃ away from light, and immediately used for further testing. The organic acids and anions in exhaled breath condensation (EBC) were filtered through a 0.22 µm membrane filter before injection and detected by ion chromatography with conductivity detection. Factors such as collection temperature and collection flow rate during condensation collection were optimized. The optimal cooling temperature was set at -15 ℃, and the optimal exhaled breath flow rate was set at 15 L/min. The mobile phase consisted of a mixture of sodium carbonate (1.5 mmol/L) and sodium bicarbonate (3 mmol/L). The flow rate was 0.8 mL/min, and the injection volume was 100 µL. An IC-SA3 column (250 mm×4.0 mm) was used, and the temperature was set at 45 ℃. An ICDS-40A electrodialysis suppressor was used, and the current was set at 150 mA. The linear ranges of the eight organic acids and anions were 0.1-10.0 mg/L; their correlation coefficients (r) were ≥0.9993. The limits of detection (LODs) for the eight organic acids and anions were 0.0017-0.0150 mg/L based on a signal-to-noise ratio of 3, and the limits of quantification (LOQs) were 0.0057-0.0500 mg/L based on a signal-to-noise ratio of 10. The intra-day precisions were 5.06%-6.33% (n=5), and the inter-day precisions were 5.37%-7.50% (n=5). This method was used to detect organic acids and anions in the exhaled breath of five healthy subjects. The contents of organic acids and anions in the exhaled breath were calculated. The content of lactic acid was relatively high, at 1.13-42.3 ng/L, and the contents of other seven organic acids and anions were 0.18-11.0 ng/L. During a 10 km-long run, the majority of organic acids and anions in the exhaled breath of five subjects first increased and then decreased. However, due to abnormal metabolism, the content changes of lactic acid, acetic acid, pyruvic acid and chloride in one subject were obviously different from others during exercise, showing a continuous rise. This method has the advantages of involving a simple sampling process and exhibiting good precision, few side effects, and no obvious discomfort or risk to the subjects. This study provides experimental ideas and a theoretical basis for future research on human metabolites.


Assuntos
Cloretos , Ácido Pirúvico , Humanos , Ânions , Ácido Láctico/análise , Cromatografia , Acetatos/análise
9.
Hepatology ; 56(5): 1661-70, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22610944

RESUMO

UNLABELLED: Chronic hepatitis B (CHB) is a major global health issue. The role of rare genetic variants in CHB has not been elucidated. We aimed to identify rare allelic variants predisposing to CHB. We performed exome sequencing in 50 CHB patients who had no identifiable risk factors for CHB and 40 controls who were healthy and hepatitis B surface antibody-positive, but had never received hepatitis B vaccination. We selected six rare variant alleles and followed up their association with disease status by Sanger sequencing in a case-control study comprising 1,728 CHB patients and 1,636 healthy controls. The latter had either not been immunized with hepatitis B vaccine or had uncertain vaccination status. Our results showed that transmembrane protein 2 p.Ser1254Asn, interferon alpha 2 p.Ala120Thr, its regulator NLR family member X1 p.Arg707Cys, and complement component 2 p.Glu318Asp were associated with CHB, with P values of <1.0 × 10(-7) , 2.76 × 10(-5) , 5.08 × 10(-5) , 2.78 × 10(-4) and odds ratios (ORs) of 2.45, 4.08, 2.34, and 1.97, respectively. The combined P value was <2.0 × 10(-16) . As there has been no indication of immunological functions for the associated gene, transmembrane protein 2, we further studied its expression by immunohistochemistry, real-time polymerase chain reaction, and western blotting. Our results showed that it was strongly expressed by healthy hepatocytes, but its expression was reduced in liver tissues with CHB, hepatitis B viral (HBV) genome-containing HepG2.2.15 cells, as compared with healthy liver tissues and non-HBV genome-containing HepG2 cells (P = 0.022 and 0.0036, respectively). CONCLUSION: We identified four missense mutations associated with CHB, our results providing evidence for rare inborn genetic defects that contribute to increased host susceptibility to CHB.


Assuntos
Predisposição Genética para Doença/genética , Vírus da Hepatite B/imunologia , Hepatite B Crônica/genética , Proteínas de Membrana/metabolismo , Alelos , Estudos de Casos e Controles , Complemento C2/química , Complemento C2/genética , Exoma , Expressão Gênica , Genótipo , Células Hep G2 , Antígenos de Superfície da Hepatite B/imunologia , Hepatite B Crônica/sangue , Hepatite B Crônica/metabolismo , Hepatócitos/metabolismo , Humanos , Interferon-alfa/química , Interferon-alfa/genética , Fígado/metabolismo , Proteínas de Membrana/química , Proteínas de Membrana/genética , Proteínas Mitocondriais/química , Proteínas Mitocondriais/genética , Modelos Estruturais , Mutação de Sentido Incorreto , Razão de Chances , Análise de Sequência de DNA
10.
Nutr Clin Pract ; 38(5): 1073-1081, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37039702

RESUMO

BACKGROUND: This study aimed to determine the factors affecting the time to negative conversion of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children and adolescents, with particular reference to nutrition risk assessment on admission. METHODS: This retrospective observational study was conducted in a sentinel hospital for novel coronavirus in Quanzhou, China. The study population comprised children and adolescents with COVID-19 admitted to the isolation wards between March 25 and April 12, 2022. Based on the Screening Tool for the Assessment of Malnutrition in Paediatrics (STAMP), nutrition risk screening was performed within 24 h of admission. Univariate and multivariate analyses were used to identify independent factors for the time to negative viral RNA conversion. RESULTS: A total of 185 patients with confirmed COVID-19 were included in this study. The median time to viral RNA conversion (from the first day of a positive nucleic acid test to the first day of consecutive negative results) was 15 days (IQR 12-18 days), ranging from 4 to 25 days. High nutrition risk (hazard ratio [HR]: 0.543, 95% CI: 0.334-0.881) and fever (HR: 0.663; 95% CI: 0.483-0.910) were independent factors influencing the negative conversion of SARS-CoV-2 RNA. CONCLUSION: High nutrition risk and fever were independently associated with delayed viral clearance in children and adolescents with SARS-CoV-2 infection, so these factors should be considered during the treatment plans for infected children and adolescents.


Assuntos
COVID-19 , Humanos , Criança , Adolescente , COVID-19/epidemiologia , SARS-CoV-2/genética , RNA Viral/genética , Fatores de Risco , Estudos Retrospectivos
11.
PLoS One ; 17(11): e0277484, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36441740

RESUMO

BACKGROUND: It is necessary to evaluate the effects of competency-based training (CBT) model in the clinical training of new nurses, to provide insights to the management of nurses. METHODS: We searched PubMed, EMBASE, Cochrane Library, Web of Science, China National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database, Wanfang and Weipu Databases for the randomized controlled trials (RCTs) on the application effect of CBT in new nurse training up to December 15, 2021. Two investigators independently screened the literature, extracted the data and evaluated the quality of the literatures. RevMan 5.3 software was used for meta-analysis. RESULTS: A total of 7 RCTs involving 639 new nurses were included. Meta-analyses indicated that CBT improved the ability of clinical nursing care [SMD = 1.52, 95%CI (0.13~2.90), P = 0.03], critical thinking and innovation[SMD = 0.69, 95%CI (0.43~0.95), P<0.001], interpersonal communication[SMD = 0.74, 95%CI (0.51~0.97), P<0.001], professional construction and development[SMD = 1.92, 95%CI (1.41~2.42), P<0.001], level of comprehensive knowledge[SMD = 1.20, 95%CI (0.63~1.76), P<0.001] and level of good personal traits[SMD = 1.89, 95%CI (1.27~2.50), P<0.001].The results of Egger regression tests indicated that there were no statistical biases amongst the synthesized outcomes (all P>0.05). CONCLUSIONS: CBT is beneficial for improving the competency of newly recruited nurses. More RCTs from different population and regions are needed to further elucidate the role of CBT in nurse management.


Assuntos
Conhecimento , Pensamento , Humanos , China , Comunicação , Bases de Dados Factuais
12.
Addict Behav ; 113: 106686, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33069109

RESUMO

BACKGROUND: One of the key symptoms of Internet gaming disorder is the impulsive pursuit of Internet games, which causes individuals with this disorder to have a tendency to approach gaming cues. Dual processing theory states that this approach bias is caused by the suppression of reflective processing and the hyperactivity of impulsive processing. Therefore, reverse modification training for approach bias can suppress impulsive processing, thereby reducing or treating the disorder. METHOD: In this study, 48 individuals with Internet gaming disorder were selected and randomly assigned to the following two groups: the experimental group and the control group. The 24 participants in the experimental group received a 4-day stimulus-response compatibility (SRC) approach bias modification treatment, whereas the 24 participants in the control group received a corresponding SRC pseudomodification training. RESULTS: The approach response time of both groups to the gaming cues was significantly shorter than that to the neutral cues at baseline. After the modification, the response time of the experimental group to the gaming cues significantly increased, whereas the scores for Internet gaming disorder severity, anxiety level and craving significantly decreased. However, the control group subjects did not show these effects. CONCLUSION: The current results imply that individuals with Internet gaming disorder show approach bias toward Internet gaming cues, and SRC reverse modification training can significantly correct this bias and therefore have therapeutic effects to some extent.


Assuntos
Comportamento Aditivo , Transtorno de Adição à Internet , Jogos de Vídeo , Comportamento Aditivo/terapia , Fissura , Sinais (Psicologia) , Humanos , Internet , Adulto Jovem
13.
Front Genet ; 12: 679678, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34234812

RESUMO

TYK2 variants can impact disease onset or progression. In our previous study, we identified abnormal splicing that happened near rs781536408 in the TYK2 gene. The purpose of this research was to examine the effect of the mutation on alternative splicing in vivo and in vitro. Whole exome sequencing was performed to identify the mutations followed by bidirectional Sanger sequencing. Then the minigene analysis was carried out based on HeLa and HEK293T cell lines. The results showed that rs781536408 (c.2395G>A, p.G799R) was homozygous in the patient, but heterozygous in parents. PCR amplification confirmed the abnormal splicing in the somatic cells of the patients, but not in the parents. Sanger sequencing results showed that there was a skipping of exon18 near the mutation. For minigene analysis, there was no difference between the wild-type and the mutant type in the two minigene construction strategies, indicating that mutation c.2395G>A had no effect on splicing in vitro. Combining the results of in vivo, we speculated that the effect of the mutation on splicing was not absolute, but rather in degree.

14.
Mol Cytogenet ; 14(1): 29, 2021 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-34049562

RESUMO

BACKGROUND: Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. CASE PRESENTATION: Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). CONCLUSION: On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype-phenotype spectrum of terminal deletion of chromosome 10p.

15.
Behav Pharmacol ; 21(4): 369-73, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20555252

RESUMO

Three experiments were performed to study the effects of immune challenge on the rewarding properties of opiates. Intraperitoneal injection of polyinosinic-polycytidylic acid (Poly I:C, 1 mg/kg) was used to trigger an immune challenge. Conditioned place preference (CPP) in rats trained with alternating subcutaneous injections of morphine (5 mg/kg) and saline was used to assess the rewarding effect of morphine. Poly I:C administered before CPP training had no effects on CPP acquisition. Poly I:C administered during CPP training enhanced CPP acquisition. Poly I:C administered after morphine-induced CPP acquisition retarded CPP extinction. These results show that the immune challenge by Poly I:C augmented morphine CPP in rats depending on the onset time of the challenge. The findings suggest that immune challenge may enhance the rewarding properties of opiates.


Assuntos
Antivirais/farmacologia , Condicionamento Operante/efeitos dos fármacos , Morfina/farmacologia , Entorpecentes/farmacologia , Poli I-C/farmacologia , Animais , Relação Dose-Resposta a Droga , Sinergismo Farmacológico , Extinção Psicológica/efeitos dos fármacos , Imunidade/efeitos dos fármacos , Masculino , Ratos , Ratos Sprague-Dawley , Recompensa
16.
Front Pediatr ; 8: 253, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32537443

RESUMO

Tyrosine kinase 2 (TYK2) deficiency was formerly defined in patients suffering from autosomal recessive hyperimmunoglobulin E syndrome (AR-HIES). In recent years, it was proposed that human TYK2 deficiency is probably not a common cause of the AR-HIES but a distinctive illness object. In the current work, a recessive TYK2 deficiency is reported in a patient suffering from BCG disease and recurrent respiratory infection. It was implied that this patient carried novel missense homozygous mutation (c.2395G>A, p. G799R) in the TYK2. Both the in vivo and in vitro experiments indicated the inhibition effects of the c.2395G>A homozygous mutation on the TYK2 gene and protein expression. By literature review, we summarized the clinical manifestations, gene mutations, and related cytokine responses of formerly reported patients possessing TYK2 deficiency. The core manifestation of these patients is infected by intracellular pathogens, such as mycobacteria and/or viruses. Therefore, the possibility of TYK2 deficiency should be considered when a patient has repeated intracellular bacteria (including tuberculosis bacillus infection), repeated viral infection or eczema.

17.
RSC Adv ; 10(25): 14500-14509, 2020 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-35497128

RESUMO

Simple, small organic molecules containing nitrogen and oxygen atoms in their structures have been disclosed to catalyze transition-metal-free C-H arylation of unactivated arenes with aryl iodides in the presence of t BuOK. In this article, an optimized catalytically active molecule, (2-(methylamino)phenyl)methanol, was designed. A broad range of aryl iodides could be converted into the corresponding arylated products at 100 °C over 24 h with good to excellent yields. Mechanistic experiments verified that radicals participated in this catalytic transformation and that the cleavage of the aromatic C-H bond was not the rate determining step. A K+ capture experiment by 18-crown-6 emphasized the significance of the cation species of the strong base. Fourier transform infrared spectroscopy proved that the catalytic system was activated by the hydrogen bonds between small organic molecules and t BuOK. Also, a clear mechanism was proposed. This transition-metal-free method affords a promising system for efficient and inexpensive synthesis of biaryls via a user-friendly approach, as confirmed by scale-up experiments.

18.
RSC Adv ; 10(13): 7698-7707, 2020 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-35492186

RESUMO

A Cu-based homogeneous catalytic system was proposed for the preparation of imides from alkene-tethered amides. Here, O2 acted as a terminal oxidant and a cheap and easily available oxygen source. The cleavage of C[double bond, length as m-dash]C bonds and the formation of C-N bonds were catalyzed by Cu(ii) salts with proper nitrogen-containing ligands under 100 °C. The synthesis approach has potential applications in pharmaceutical syntheses. Moreover, scaled-up experiments confirmed the practical applicability.

19.
J Assoc Nurses AIDS Care ; 31(5): 535-543, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31335460

RESUMO

We investigated changes in CD T cell counts related to sleep quality, depression, anxiety, and sociodemographic variables in heterogeneous groups of people living with HIV in a 6-month prospective study. Our longitudinal study involved 247 ambulatory patients living with HIV and using antiretroviral therapy. Sleep quality, anxiety, depression, and CD T cell counts were assessed three times at 3-month intervals. Growth curve mixture modeling was conducted to explore changes over time. A two-class mixture model with logarithmic change pattern fit the data best. For the majority of the sample (89.1%), anxiety, depression, and sleep quality did not change when CD T cells increased. For a small proportion of the sample (11.9%), sleep quality, anxiety, and depression deteriorated when CD T cells decreased. Marital status and alcohol use affected the classification significantly. Health care professionals should provide relevant services to people living with HIV with decreasing CD T cell counts.


Assuntos
Ansiedade/etiologia , Depressão/etiologia , Infecções por HIV/complicações , Infecções por HIV/psicologia , Sono/fisiologia , Adolescente , Adulto , Terapia Antirretroviral de Alta Atividade , Ansiedade/psicologia , Contagem de Linfócito CD4 , China/epidemiologia , Depressão/psicologia , Feminino , Infecções por HIV/tratamento farmacológico , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/psicologia , Fatores Socioeconômicos , Carga Viral
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