Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 63
Filtrar
1.
Sci Rep ; 14(1): 8061, 2024 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-38580693

RESUMO

The purpose of this study is to compare the relative efficacy and safety of long-acting growth hormone (LAGH) as a growth hormone replacement therapy in prepubertal children with growth hormone deficiency (GHD). We searched the PubMed, Embase, CNKI, and Wanfang databases from inception to July 2023 and identified eleven relevant studies. PEG-LAGH showed better effect on height velocity (mean difference [MD]: - 0.031, 95% credibility interval [CrI]: - 0.278, 0.215) than somatrogon (MD: 0.105, 95% CrI: - 0.419, 0.636), somapacitan (MD: 0.802, 95% CrI: - 0.451, 2.068) and lonapegsomatropin (MD: 1.335, 95% CrI: - 0.3, 2.989) when compared with daily growth hormone (DGH). Furthermore, in terms of height standard deviation score, PEG-LAGH demonstrated better improvement (MD: - 0.15, 95% CrI: - 1.1, 0.66) than somatrogon (MD: - 0.055, 95% CrI: - 1.3, 0.51) and somapacitan (MD: 0.22, 95% CrI: - 0.91, 1.3). PEG-LAGH (risk ratio [RR]: 1.00, 95% CrI: 0.82, 1.2) reduced the risk of adverse events compared with other LAGH (somatrogon, RR: 1.1, 95% CrI: 0.98, 1.2; somapacitan, RR: 1.1, 95% CrI: 0.96, 1.4; lonapegsomatropin, RR, 1.1, 95% CrI: 0.91, 1.3) and was comparable with DGH. This is the first study to indirectly compare the LAGH thorough a network meta-analysis and provide evidence of the optimal efficacy of various LAGH specifically PEG-LAGH and acceptable safety profile in prepubertal children with GHD.


Assuntos
Nanismo Hipofisário , Hormônio do Crescimento Humano , Criança , Humanos , Hormônio do Crescimento/uso terapêutico , Metanálise em Rede , Hormônio do Crescimento Humano/uso terapêutico , Nanismo Hipofisário/tratamento farmacológico , Transtornos do Crescimento/tratamento farmacológico , Terapia de Reposição Hormonal
2.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(2): 118-123, 2024 Feb 15.
Artigo em Chinês | MEDLINE | ID: mdl-38436307

RESUMO

Short stature in puberty significantly affects the physical and mental health of adolescents. The continuous acceleration of skeletal maturation, caused by sex hormones during puberty, limits the time available for growth and poses a considerable challenge for the treatment of short stature. To date, there is still no standardized treatment protocol for this disorder. However, puberty is the last period to improve the final adult height. Currently, commonly used pharmacological treatments in clinical settings include recombinant human growth hormone, gonadotropin-releasing hormone analogs, and third-generation aromatase inhibitors. In recent years, personalized treatment aiming to improve the final adult height has become a key focus in clinical practice. This article provides a comprehensive summary of research on pharmacological therapies for height improvement in pubertal children with short stature, offering valuable insights for healthcare professionals.


Assuntos
Nanismo , Hormônio do Crescimento Humano , Adolescente , Adulto , Criança , Humanos , Hormônio do Crescimento Humano/uso terapêutico , Pessoal de Saúde
3.
J Fungi (Basel) ; 9(10)2023 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-37888275

RESUMO

Hericium rajendrae is an emerging species in the genus Hericium with few members. Despite being highly regarded due to its rarity, knowledge about H. rajendrae remains limited. In this study, we sequenced, de novo assembled, and annotated the complete genome of H. rajendrae NPCB A08, isolated from the Qinling Mountains in Shaanxi, China, using the Illumina NovaSeq and Nanopore PromethION technologies. Comparative genomic analysis revealed similarities and differences among the genomes of H. rajendrae, H. erinaceus, and H. coralloides. Phylogenomic analysis revealed the divergence time of the Hericium genus, while transposon analysis revealed evolutionary characteristics of the genus. Gene family variation reflected the expansion and contraction of orthologous genes among Hericium species. Based on genomic bioinformation, we identified the candidate genes associated with the mating system, carbohydrate-active enzymes, and secondary metabolite biosynthesis. Furthermore, metabolite profiling and comparative gene clusters analysis provided strong evidence for the biosynthetic pathway of erinacines in H. rajendrae. This work provides the genome of H. rajendrae for the first time, and enriches the genomic content of the genus Hericium. These findings also facilitate the application of H. rajendrae in complementary drug research and functional food manufacturing, advancing the field of pharmaceutical and functional food production involving H. rajendrae.

4.
Ginekol Pol ; 94(7): 511-517, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37602370

RESUMO

OBJECTIVES: To evaluate the clinical efficacy of thermocoagulation in women with biopsy-confirmed cervical low-grade squamous intraepithelial lesions (LSIL) or less after colposcopy referral. MATERIAL AND METHODS: A longitudinal study was performed. Women who were diagnosed with cervical LSIL or chronic cervicitis underwent scheduled follow-up examinations with cytology and human papilloma virus (HPV) genotyping for two years after the initial management with thermocoagulation or observation without treatment. All women underwent scheduled follow-up with combined cytology and HPV test at 6th months, 12th months, and 24th months after the initial management. Both HPV clearance and cytological regression were included in the analysis, with clinical cure defined as normal cytology and negative HPV results. RESULTS: A total of 221 women were included. The histopathological results identified 136 (61.54%) patients with LSIL and 85 (38.46%) with chronic cervicitis. Of these, 113 (51.13%) received thermocoagulation therapy, and 108 (48.87%) chose observation. The 2-year follow-up rate was 91.40%. Women who received thermocoagulation presented a significantly higher probability of cure for two years than those who chose observation (62.86% vs 39.18%, p < 0.001). This preponderance was not observed in the subgroup analysis regarding women with cervical cervicitis (54.17% vs 41.38%, p = 0.277) but was observed in women with LSILs (70.18% vs 38.24%, p < 0.001). CONCLUSIONS: Thermocoagulation may be indicated for patients with cervical LSILs as an effective outpatient procedure in clinical practice.


Assuntos
Eletrocoagulação , Infecções por Papillomavirus , Lesões Intraepiteliais Escamosas , Cervicite Uterina , Feminino , Humanos , Gravidez , Biópsia , Colposcopia , Eletrocoagulação/efeitos adversos , Papillomavirus Humano/genética , Estudos Longitudinais , Encaminhamento e Consulta , Lesões Intraepiteliais Escamosas/patologia , Lesões Intraepiteliais Escamosas/cirurgia , Resultado do Tratamento , Cervicite Uterina/patologia , Adulto
5.
BMC Complement Med Ther ; 23(1): 227, 2023 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-37422636

RESUMO

BACKGROUND: Mild cognitive impairment (MCI) is the predementia phase of Alzheimer's disease (AD). The intestinal microbiome is altered in MCI and AD, and apolipoprotein E (ApoE) ε4 gene polymorphism is a risk factor for the progression of MCI to AD. This study aims to investigate the improvement in cognitive function of MCI patients with and without ApoE ε4 due to acupuncture and the changes in gut microbiota community composition and abundance in MCI. METHODS: This randomized assessor-blind controlled study will enrol MCI patients with and without the ApoE ε4 gene (n = 60/60). Sixty subjects with the ApoE ε4 gene and 60 subjects without the ApoE ε4 gene will be randomly allocated into treatment and control groups in a 1:1 ratio. Intestinal microbiome profiles will be evaluated by 16 S rRNA sequencing of faecal samples and compared between the groups. RESULTS/CONCLUSIONS: Acupuncture is an effective method to improve cognitive function in MCI. This study will provide data on the relationship between the gut microbiota and the effectiveness of acupuncture in patients with MCI from a new angle. This study will also provide data on the relationship between the gut microbiota and an AD susceptibility gene by integrating microbiologic and molecular approaches. TRIAL REGISTRATION: www.chictr.org.cn , ID: ChiCTR2100043017, recorded on 4 February 2021.


Assuntos
Terapia por Acupuntura , Doença de Alzheimer , Eixo Encéfalo-Intestino , Disfunção Cognitiva , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/terapia , Apolipoproteína E4/genética , Disfunção Cognitiva/genética , Disfunção Cognitiva/terapia , Genótipo , Ensaios Clínicos Controlados Aleatórios como Assunto
6.
Front Pediatr ; 11: 1057574, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37063666

RESUMO

Gaucher disease (GD) is an inherited lysosomal storage disease caused by mutations in the glucocerebrosidase gene. The decrease of glucocerebrosidase activity in lysosomes results in the accumulation of its substrate glucocerebroside in the lysosomes of macrophages in organs such as the liver, spleen, bones, lungs, brain and eyes, and the formation of typical storage cells, namely "Gaucher cells", leading to lesions in the affected tissues and organs. Hepatosplenomegaly, bone pain, cytopenia, neurological symptoms, and other systemic manifestations are common in clinical practice. Most pediatric patients have severe symptoms. Early diagnosis and treatment are crucial to improve the curative effect and prognosis. However, due to the low incidence of this disease, multi-system involvement in patients, and diverse clinical manifestations, multidisciplinary teamwork is needed for comprehensive evaluation, diagnosis and treatment. In this study, we reported 2 cases of different types of GD who were diagnosed, treated and followed up by multidisciplinary collaboration in infancy.

7.
Biochem Biophys Res Commun ; 649: 55-61, 2023 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-36745970

RESUMO

Brugada syndrome is an inherited cardiac arrythmia causes sudden death usually associated with loss-of-function mutations of SCN5A, a gene encodes α subunit of cardiac sodium channel Nav1.5 which plays key role in cardiac function. SCN5A mutation screen is often applied to diagnosis of Brugada syndrome, while its genetic etiology remains not fully understood. In present study, we performed sequence analysis of SCN5A gene in a Chinese Han family with Brugada syndrome, and found a novel heterozygous mutation (c.4969 C > T, p.Leu1657Phe). Functional electrophysiological study showed that the mutation reduced ∼60% sodium current density and largely reduced Nav1.5 activation (positively shifted activation curve by 13.93 mV), which are the key features for the pathogenesis of Brugada syndrome. However, the mutation enhanced Nav1.5 function as it slightly decreased inactivation (positively shifted inactivation curve by 7.4 mV) and accelerated recovery (decreased fast recovery by 1.39 ms). In addition, the mutation acts in a dominant negatively manner as it reduced ∼49% sodium current densities in heterozygous state. In conclusion, the study describes a novel SCN5A mutation of p.Leu1657Phe associated with Brugada syndrome, the mutation reduced current density in a dominant negative manner and altered gating kinetics, which will benefit early clinical diagnosis of Brugada syndrome.


Assuntos
Síndrome de Brugada , Canal de Sódio Disparado por Voltagem NAV1.5 , Humanos , Síndrome de Brugada/genética , População do Leste Asiático , Mutação , Mutação de Sentido Incorreto , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Sódio/metabolismo
8.
Complement Ther Clin Pract ; 50: 101677, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36402061

RESUMO

BACKGROUND: Combination treatment with acupoint therapy and conventional medication (CM) has been proposed as a strategy that could improve motor dysfunction in Parkinson's disease (PD). We performed this systematic review and meta-analysis to assess the effects of this combination treatment on motor function in patients with PD. METHODS: We searched randomized controlled trials (RCTs) from eight databases, comparing combined acupoint therapy and CM and CM (alone or with sham interventions). The quality of the trials was evaluated according to the Cochrane risk of bias. Subgroup and sensitivity analyses were performed on different types of acupoint interventions. RESULTS: Forty-seven trials of 2929 participants were included, with 45 studies used for the meta-analyses. Combination treatment yielded an improved reduction in United Parkinson's disease rating scale (UPDRS) III of -3.85 [95% CI, -4.83 to -2.86] and Webster scale score of -3.17 [95% CI, -4.07 to -2.27]. Further analyses demonstrated that real (compared with sham) intervention was linked to a decreased UPDRS III of -2.02 ([95% CI, -3.60 to -0.44], I2 = 40%), and beneficial effects were observed when combination intervention was used for patients with Hoehn-Yahr (H-Y) stages >3 with mild to moderate stimulation for 4-12-week treatment. CONCLUSIONS: Acupoint therapy and CM treatment may improve motor function of patients with PD. Patients with H-Y stage >3 could tolerate real acupoint intervention with mild to moderate stimulation for 4-12-week treatment and showed improvement. However, this was demonstrated with low to moderate levels of evidence in statistical description.


Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/tratamento farmacológico , Pontos de Acupuntura
9.
Journal of Preventive Medicine ; (12): 350-354, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-971803

RESUMO

Objective@#To evaluate the effect of Triangle hierarchical management among community patients with hypertension, so as to provide insights into the improvements of standardized hypertension management.@*Methods@#Patients with newly diagnosed hypertension from 2 community health service centers in Qiantang District of Hangzhou City by the end of 2020 were randomly assigned to the conventional group and the Triangle group. Patients in the conventional group were given health management services according to the requirements of basic public health service standard for one year, while patients in the Triangle group were given Triangle hierarchical management. The blood pressure, self-management behaviors, treatment compliance, smoking, alcohol consumption and exercise were collected using the self-management behavior scale, treatment compliance scale and self-designed questionnaires, and were compared before and after intervention with analysis of covariance and generalized estimation equations.@*Results@#Totally 200 patients with hypertension were recruited, including 100 patients in the conventional group and 100 patients in the Triangle group. There were no significant differences between the two groups before implementation of interventions in terms of gender, age, educational level or occupation (P>0.05). The reduction in blood pressure, increase in the score of treatment, diet, exercise and living habitat management and the total score of self-management behaviors, increase in the score of adherence to medication regimens, daily living management behaviors, smoking and alcohol consumption preference and the total score of treatment compliance, and increase in the number of patients with normal standard of quitting smoking, quitting alcohol consumption, exercise and blood pressure were significantly higher in the Triangle group than in the conventional group after intervention (P<0.05). @*Conclusions @#Triangle hierarchical management may increase the treatment compliance, improve the self-management behavior and facilitate hypertension control among hypertensive patients, which may be popularized for health management among community patients with hypertension.

10.
Front Hum Neurosci ; 16: 891411, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36204718

RESUMO

Background: Mild cognitive impairment (MCI) is an intermediary state between normal aging and dementia. Early intervention for MCI may be a key opportunity in managing dementia. Recent studies have demonstrated the alterations in the gut microbial communities associated with MCI. This study aims to evaluate if acupuncture can improve cognitive function in subjects with MCI and explore the possible mechanism of acupuncture by better defining the interactions of gut microbiota. Methods: A randomized assessor-blind controlled study is proposed. A total of 62 subjects will be recruited and randomly allocated into two groups in a 1:1 ratio: the treatment and control groups. Participants in the treatment group will receive active acupuncture and exercise/cognitive training (conventional treatment). The control group will receive sham acupuncture and exercise/cognitive training. Each participant will receive active or sham acupuncture for 12 weeks. The primary outcome will be the Montreal Cognitive Assessment (MoCA) score and intestinal flora. Secondary outcomes will include mini-mental state examination (MMSE) and activity of daily living (ADL) scores. Various scales will be collected at baseline, during the treatment (weeks 4 and 8), week 12, and months 4 and 6 after the intervention. Feces will be collected before and after the treatment based on 16S rRNA gene sequencing technology for each participant to characterize the intestinal flora. Adverse events will be recorded by monthly follow-up. Results: The trial is expected to show that cognitive function can be improved by acupuncture and produce reliable clinical outcomes in MCI patients. It will also provide preliminary data on the possible mechanism based on the changes in the intestinal flora. Collected data will be used to support future large-scale fundamental studies. Conclusion: Acupuncture is an effective method to improve cognitive function for MCI. This study will provide data on the relationship between gut microbiota and the effectiveness of acupuncture in patients with MCI from a new angle. Clinical trial registration: [www.ClinicalTrials.gov], identifier [MR-33-22-002376].

11.
Turk J Pediatr ; 64(4): 729-735, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36082646

RESUMO

BACKGROUND: Premature ovarian insufficiency (POI) in the pediatric age group is most commonly related to X chromosome abnormalities such as Turner syndrome. Autosomal chromosome microdeletions in ovarian failure are relatively rare. The present study identified new autosomal deletions in three girls with POI. CASE: We present three adolescent girls aged 14-15 years who had not attained menarche. Upon physical examination, there was a lack of breast tissue and no prominent secondary sexual characteristics. Clinical evaluation, hormonal tests, abdominal ultrasonography, and chromosome karyotyping were performed. Chromosome microarray analysis (CMA) was also performed to detect DNA copy number changes. Luteinizing hormone level was significantly increased, while follicular stimulating hormone level was > 25 IU/L with low estradiol levels. Autosomal deletions were detected in all three cases by CMA. The first patient had 0.454 Mb deletion on 15q25.2, the second patient had 1.337 Mb deletion on 19p13.3, and the third patient had 0.163 Mb deletion on 16p11.2. CONCLUSIONS: POI is rare in children and is most commonly associated with X chromosome abnormalities. However, normal karyotype does not exclude the presence of chromosomal abnormality. CMA should be considered in cases with POI to detect microdeletions in autosomal chromosomes.


Assuntos
Insuficiência Ovariana Primária , Síndrome de Turner , Adolescente , Criança , Aberrações Cromossômicas , Cromossomos , Feminino , Humanos , Cariotipagem , Insuficiência Ovariana Primária/diagnóstico , Insuficiência Ovariana Primária/genética , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética
12.
Front Mol Biosci ; 9: 959738, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36046602

RESUMO

Targeted therapy for acute myeloid leukemia (AML) is an effective strategy, but currently, there are very limited therapeutic targets for AML treatment. Ferroptosis is strongly related to drug resistance and carcinogenesis. However, there are few reports about ferroptosis in AML. This article explores the relationship between ferroptosis-related gene (FRG) expression and prognosis in AML patients from the FerrDb and the Cancer Genome Atlas (TCGA) databases. The ferroptosis-related gene ARNTL was observed to have high expression and poor prognosis in AML. Receiver operating characteristic curve (ROC) analysis revealed the predictive accuracy of the signature. The area under the time-dependent ROC curve (AUC) was 0.533 at one year, 0.619 at two years, and 0.622 at three years within the training cohort. Moreover, we found that the ARNTL expression is closely associated with tumor-infiltrating immune cells like the macrophages and NK cells. Inhibiting the ARNTL expression suppressed colony formation and induced ferroptosis in AML cells. Overall, the survival prediction model constructed based on ARNTL accurately predicted the survival in AML patients, which could be a potential candidate for diagnosing and treating AML.

13.
Plants (Basel) ; 11(13)2022 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-35807649

RESUMO

Delayed planting date of rapeseed is an important factor affecting seed yield. However, regulation of the leaf carbohydrate metabolism in rapeseed by a late planting date at the reproductive stage is scarcely investigated. A two-year field experiment was conducted to assess the effect of planting dates, including early (15 September), optimal (1 October), late (15 October), and very late (30 October), on leaf growth and carbohydrate biosynthetic and catabolic metabolism at the reproductive stage. The results showed that leaf dry matter decreased linearly on average from 7.48 to 0.62 g plant-1 with an early planting date, whereas it increased at first and peaked at 14 days after anthesis (DAA) with other planting dates. Leaf dry matter was the lowest at the very late planting date during the reproductive stage. For leaf chlorophyll content, rapeseed planted at an optimal date maximized at 14 DAA with an average content of 1.51 mg g-1 fresh weight, whereas it kept high and stable at a very late planting date after 28 DAA. For the carbohydrate catabolic system, acid and neutral invertase (AI and NI, respectively) showed higher activity before 14 DAA, whereas both sucrose synthase (SS) and starch phosphorylase (SP) showed higher activity after 14 DAA. For the carbohydrate biosynthetic system, the activity of sucrose phosphate synthase (SPS) was the highest at the late planting date after 14 DAA, whereas it was at the lowest at the very late planting date. However, the activity of ADP-glucose pyrophosphorylase (AGPase) at the late and very late planting dates was significantly higher than that of the early and optimal plant dates after 21 DAA, which is in accordance with the leaf total soluble sugar content, suggesting that leaf carbohydrate metabolism is governed by a biosynthetic system. The current study provides new insights on leaf carbohydrate metabolism regulation by late planting in rapeseed at the reproductive stage.

14.
Zhongguo Zhen Jiu ; 42(6): 608-12, 2022 Jun 12.
Artigo em Chinês | MEDLINE | ID: mdl-35712942

RESUMO

OBJECTIVE: To observe the clinical effect of acupuncture for perimenopausal early-wake insomnia. METHODS: A total of 60 patients with perimenopausal early-wake insomnia were randomly divided into an observation group (30 cases, 3 cases dropped off) and a control group (30 cases, 2 cases dropped off, 2 cases were removed). In the observation group, acupuncture was applied at Baihui (GV 20), Yintang (GV 24+), Anmian (Extra), Hegu (LI 4), Shenmen (HT 7), Taichong (LR 3), Taixi (KI 3), etc., once every other day, 3 times a week. In the control group, oryzanol tablets were taken orally, 20 mg each time, 3 times a day. Both groups were treated for 4 weeks. Before and after treatment, the sleep actigraphy (ACT) was used to measure the effective sleep time, sleep quality, wake-up time, wake-up frequency, each wake-up time, and the Pittsburgh sleep quality index (PSQI) score and early-wake score were compared in the two groups, and the clinical effect was assessed. RESULTS: After treatment, compared before treatment, the effective sleep time was prolonged and the sleep quality was improved (P<0.05), the wake-up time, each wake-up time were shortened and wake-up frequency was decreased (P<0.05), the PSQI score and early-wake score were decreased (P<0.05) in the observation group. After treatment, the wake-up frequency, PSQI score and early-wake score were decreased in the control group (P<0.05). The effective sleep time, sleep quality, wake-up time, wake-up frequency, each wake-up time, PSQI score and early-wake score after treatment in the observation group were superior to the control group (P<0.05). The total effective rate was 88.9% (24/27) in the observation group, which was higher than 38.5% (10/26) in the control group (P<0.05). CONCLUSION: Acupuncture can increase the effective sleep time and improve sleep quality in patients with perimenopausal early-wake insomnia.


Assuntos
Terapia por Acupuntura , Distúrbios do Início e da Manutenção do Sono , Pontos de Acupuntura , Humanos , Perimenopausa , Distúrbios do Início e da Manutenção do Sono/terapia , Resultado do Tratamento
15.
Genes (Basel) ; 13(5)2022 04 22.
Artigo em Inglês | MEDLINE | ID: mdl-35627125

RESUMO

Background: Cornelia de Lange syndrome (CdLS) is a genetic syndrome characterized by intellectual disability, special facial features, growth retardation, feeding difficulties, and multiple organ system abnormalities. NIPBL variants occur in approximately 80% of CdLS cases. Aims: We report a novel de novo heterozygous pathogenic variant in the NIPBL and its association with CdLS. We also examined the key regulatory sequences of the 5' untranslated region in NIPBL mRNA. Few studies have reported mutation sites in the 5' untranslated region (UTR) of the NIPBL that result in CdLS. Methods: The patient's medical history, clinical manifestations, physical examination, laboratory examination, Griffiths development assessment scale­Chinese version, and cardiac B-ultrasound were examined. Mutation screening was conducted using trio whole exome sequencing (trio-WES) and Sanger sequencing. Quantitative PCR was performed to measure the NIPBL expression in peripheral blood mononuclear cells. A Dual-Luciferase reporter assay was conducted to evaluate the transcription of truncated mutants. Results: The proband showed characteristics of CdLS including thick eyebrows, a concave nasal ridge, long and smooth philtrum, downturned corners of the mouth, intellectual disability, postnatal growth retardation, and a short fifth toe. A novel de novo heterozygous pathogenic variant in the NIPBL (c.-467C > T) was identified. A Dual-Luciferase reporter gene assay showed that SPO1 (-490 bp to -360 bp) and SPO3 (-490 bp to -401 bp) induced the highest activity. Conclusions: We found a novel de novo heterozygous pathogenic variant (c.-467C > T) in the NIPBL resulting in CdLS. Our findings expand the spectrum of pathogenic mutations for CdLS. Our in vitro experiments elucidated important regulatory sequences in the 5' UTR of the NIPBL.


Assuntos
Síndrome de Cornélia de Lange , Deficiência Intelectual , Regiões 5' não Traduzidas , Proteínas de Ciclo Celular/genética , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , Síndrome de Cornélia de Lange/patologia , Transtornos do Crescimento/genética , Humanos , Deficiência Intelectual/genética , Leucócitos Mononucleares/patologia , Luciferases/genética
17.
Pharmaceutics ; 14(2)2022 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-35214196

RESUMO

Photodynamic therapy (PDT) has emerged as a promising locoregional therapy of hepatocellular carcinoma (HCC). The utilization of luminogens with aggregation-induced emission (AIE) characteristics provides a new opportunity to design functional photosensitizers (PS). PSs targeting the critical organelles that are susceptible to reactive oxygen species damage is a promising strategy to enhance the effectiveness of PDT. In this paper, a new PS, 1-[2-hydroxyethyl]-4-[4-(1,2,2-triphenylvinyl)styryl]pyridinium bromide (TPE-Py-OH) of tetraphenylethylene derivative with AIE feature was designed and synthesized for PDT. The TPE-Py-OH can not only simultaneously target lipid droplets and mitochondria, but also stay in cells for a long period (more than 7 days). Taking advantage of the long retention ability of TPE-Py-OH in tumor, the PDT effect of TPE-Py-OH can be activated through multiple irradiations after one injection, which provides a specific multiple light-activated PDT effect. We believe that this AIE-active PS will be promising for the tracking and photodynamic ablation of HCC with sustained effectiveness.

19.
J Pediatr Endocrinol Metab ; 35(2): 185-190, 2022 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-34565054

RESUMO

OBJECTIVES: NPR2 variants are associated with various short stature and bone dysplasia, such as acromesomelic dysplasia Maroteaux tyoe, individuals with a phenotype similar to Léri-Weill syndrome (LWD), and idiopathic short stature (ISS). However, few studies have reported on the relationship between familial short stature (FSS) and NPR2 variants. This study aimed to explore the relationship between FSS and NPR2 variants through the detection and identification of NPR2 variants in children with FSS, phenotypic description, clear treatment plan, and follow-up of treatment effect. METHODS: Children who met the FSS diagnostic criteria and had informed consent were included in the study. The trio whole-exome sequencing method (trio-WES) was used to detect and evaluate the NPR2 variants. RESULTS: A total of 16 children with short stature were included in this study (pretreatment height ≤ -2 standard deviation (SD) in both the patient and the shorter parent, unknown genetic etiology). NPR2 variants were identified in 12.5%(2/16) of the participants. Patient A was a 6-year-old male and 103.7 cm tall (-3.11SD), while Patient B was a 9-year-old female and 123.2 cm tall (-1.88SD). However, their heights increased after recombinant human growth hormone (rhGH) treatment. The height of patient A increased by 0.36SD six months after treatment while that of patient B increased by 1.22SD after one and a half years of treatment. CONCLUSIONS: NPR2 variant causes FSS. The growth rate of children significantly improved after rhGH treatment. However, further follow-up study is needed to determine the final height after long-term treatment.


Assuntos
Estatura/genética , Transtornos do Crescimento/genética , Mutação , Receptores do Fator Natriurético Atrial/genética , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Masculino , Sequenciamento do Exoma
20.
Front Physiol ; 12: 708588, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34899365

RESUMO

Background: This study explored the influences of electroacupuncture combined with dietary intervention on the intestinal flora in perimenopausal patients with abdominal obesity by using the 16s rRNA sequencing technology. Methods: Perimenopausal patients with abdominal obesity were divided into the Electroacupuncture group and the Control group. Patients in the Control group received healthy lifestyle education, while those in the Electroacupuncture group received electroacupuncture combined with dietary intervention. Before and after treatment, the weight, height, waist circumference, hip circumference, waist-height ratio (WHtR), waist to hip ratio (WHR), and body mass index (BMI) of the patients were recorded; the levels of serum triglyceride (TG), total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein cholesterol (HDL-C), fasting insulin (FINS), and fasting blood glucose (FGB) were evaluated; and the abundance, diversity, and species differences of intestinal flora were analyzed using 16s rRNA sequencing technology. Results: The body weight, waist circumference, hip circumference, BMI, WHR, and WHtR of patients in the Electroacupuncture group after treatment were lower than those before treatment. Compared with the Control group, patients in the Electroacupuncture group after treatment displayed lower waist circumference, WHtR, WHR, TG, and LDL levels as well as species abundance, higher species diversity, and lager species difference in the intestinal flora. Besides, the proportions of Klebsiella and Kosakonia in the intestinal flora of patients in the Electroacupuncture group after treatment were larger than those before treatment. Conclusion: Electroacupuncture combined with diet treatment generated a therapeutic effect on abdominal obesity in perimenopausal patients by improving the community structure of intestinal flora.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...