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1.
J Cell Mol Med ; 28(8): e18247, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38520212

RESUMO

Malignant melanoma (MM) is a highly aggressive and deadly form of skin cancer, primarily caused by recurrence and metastasis. Therefore, it is crucial to investigate the regulatory mechanisms underlying melanoma recurrence and metastasis. Our study has identified a potential targeted regulatory relationship between LINC02202, miR-526b-3p and XBP1 in malignant melanoma. Through the regulation of the miR-526b-3p/XBP1 signalling pathway, LINC02202 may play a role in tumour progression and immune infiltration and inhibiting the expression of LINC02202 can increase the efficacy of immunotherapy for melanoma. Our findings shed light on the impact of LINC02202/XBP1 on the phenotype and function of malignant melanoma cells. Furthermore, this study provides a theoretical foundation for the development of novel immunotherapy strategies for malignant melanoma.


Assuntos
Melanoma , MicroRNAs , Neoplasias Cutâneas , Humanos , Melanoma/tratamento farmacológico , Melanoma/genética , Melanoma/patologia , MicroRNAs/metabolismo , Receptor de Morte Celular Programada 1/metabolismo , Anticorpos Monoclonais/farmacologia , Anticorpos Monoclonais/uso terapêutico , Linhagem Celular Tumoral , Neoplasias Cutâneas/genética , Sistemas de Liberação de Medicamentos , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Proteína 1 de Ligação a X-Box/genética , Proteína 1 de Ligação a X-Box/metabolismo
2.
Liver Int ; 44(2): 330-343, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38014574

RESUMO

Metabolic dysfunction-associated fatty liver disease (MAFLD) has reached epidemic proportions worldwide and is the most frequent cause of chronic liver disease in developed countries. Within the spectrum of liver disease in MAFLD, steatohepatitis is a progressive form of liver disease and hepatocyte ballooning (HB) is a cardinal pathological feature of steatohepatitis. The accurate and reproducible diagnosis of HB is therefore critical for the early detection and treatment of steatohepatitis. Currently, a diagnosis of HB relies on pathological examination by expert pathologists, which may be a time-consuming and subjective process. Hence, there has been interest in developing automated methods for diagnosing HB. This narrative review briefly discusses the development of artificial intelligence (AI) technology for diagnosing fatty liver disease pathology over the last 30 years and provides an overview of the current research status of AI algorithms for the identification of HB, including published articles on traditional machine learning algorithms and deep learning algorithms. This narrative review also provides a summary of object detection algorithms, including the principles, historical developments, and applications in the medical image analysis. The potential benefits of object detection algorithms for HB diagnosis (specifically those combined with a transformer architecture) are discussed, along with the future directions of object detection algorithms in HB diagnosis and the potential applications of generative AI on transformer architecture in this field. In conclusion, object detection algorithms have huge potential for the identification of HB and could make the diagnosis of MAFLD more accurate and efficient in the near future.


Assuntos
Inteligência Artificial , Hepatopatia Gordurosa não Alcoólica , Humanos , Algoritmos , Tecnologia , Hepatócitos
3.
J Dent Sci ; 18(4): 1651-1662, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37799896

RESUMO

Background/purpose: Salivary gland cancer (SGC) is the common malignant tumor of the head and neck region with poor prognosis. Mucin 1 (MUC1) has been reported to be associated with the development of cancer. However, whether MUC1 contributed to the progression of SGC remains to be explored. Materials and methods: Immunohistochemical analysis was used to explore the expression levels of MUC1 in SGC tissues. Cell proliferation, colony formation, wound healing, transwell, and xenograft assays were performed to examine the effects of MUC1 on SGC in vitro and in vivo. Results: We found that the expression level of MUC1 was significantly upregulated in SGC tissues, and the expression level of MUC1 was significantly correlated with lymph node metastasis and TNM stage of SGC. Further exploration demonstrated that MUC1 knockdown drastically inhibited, while its overexpression promoted, cell growth, colony formation, migration, and invasion abilities of SGC cells in vitro. MUC1 knockdown significantly inhibited tumor growth in vivo, and vice versa. More importantly, we found that MUC1 promotes malignant phenotypes of SGC cells by regulating the epidermal growth factor receptor (EGFR) signaling pathway. Conclusion: Our results revealed that MUC1 promotes the development of SGC by mediating the EGFR signaling pathway, which highlights the potential therapeutic target of MUC1/ EGFR in SGC.

4.
Liver Int ; 43(6): 1170-1182, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37017559

RESUMO

Hepatocytic ballooning is a key histological feature in the diagnosis of non-alcoholic steatohepatitis (NASH) and is an essential component of the two most widely used histological scoring systems for diagnosing and staging non-alcoholic fatty liver disease (NAFLD) [namely, the NAFLD activity score (NAS), and the steatosis, activity and fibrosis (SAF) scoring system]. As a result of the increasing incidence of NASH globally, the diagnostic challenges of hepatocytic ballooning are unprecedented. Despite the clear pathological concept of hepatocytic ballooning, there are still challenges in assessing hepatocytic ballooning in 'real life' situations. Hepatocytic ballooning can be confused with cellular oedema and microvesicular steatosis. Significant inter-observer variability does exist in assessing the presence and severity of hepatocytic ballooning. In this review article, we describe the underlying mechanisms associated with hepatocytic ballooning. Specifically, we discuss the increased endoplasmic reticulum stress and the unfolded protein response, as well as the rearrangement of the intermediate filament cytoskeleton, the appearance of Mallory-Denk bodies and activation of the sonic Hedgehog pathway. We also discuss the use of artificial intelligence in the detection and interpretation of hepatocytic ballooning, which may provide new possibilities for future diagnosis and treatment.


Assuntos
Hepatopatia Gordurosa não Alcoólica , Humanos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Fígado/patologia , Inteligência Artificial , Proteínas Hedgehog , Índice de Gravidade de Doença , Biópsia
5.
Food Sci Nutr ; 11(1): 504-515, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36655078

RESUMO

Obesity has become a significant global public health problem. Functional drinks have been an essential direction for obesity prevention research. The present study investigated the preventive effect and safety of winter melon and lotus leaf Tibetan tea (WLTT, a compound tea drink based on Ya'an Tibetan Tea and medicine food homology herbs) on obesity. The rats' hypercaloric high-fat diet (HFD) obesity model was established to evaluate obesity prevention and explored the mechanism through intestinal flora regulation. The results showed that in obese rats with the intervention of WLTT (400, 800, and 1600 mg/kg BW), the body weight, fat accumulation, adipocyte cell size, serum lipid levels, and antioxidant enzyme activity (SOD, GSH-Px, and MDA) were progressively improved. 16S rRNA high-throughput sequencing showed that WLTT could improve intestinal flora disorders due to HFD, which significantly reversed the relative abundance of Firmicutes and the F/B ratio associated with an HFD, and significantly upregulated the relative abundance of Verrucomicrobia. At the genus level, the downregulation of the relative abundance of Akkermansia and unclassified_Lachnospiraceae groups, and the upregulation of the relative abundance of Romboutsia, Ruminococcus, Corynebacteriume, and Saccharibacteria_genera_incertae_sedis groups brought about by the HFD were significantly reversed. The results of the above experiments were compared favorably with those of a parallel experiment with Bi -Sheng -Yuan slimming tea (BSY, a functional drink based on green tea and medicine food homology herbs). Overall, the findings have provided that WLTT can prevent obesity owing to an HFD by regulating intestinal flora and has a good safety profile, and combinations of Tibetan tea and medicine food homology herbs could be a new option for obesity prevention.

6.
BMC Plant Biol ; 22(1): 512, 2022 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-36324083

RESUMO

BACKGROUND: Calcineurin B-like proteins (CBLs) are ubiquitous Ca2+ sensors that mediate plant responses to various stress and developmental processes by interacting with CBL-interacting protein kinases (CIPKs). CBLs and CIPKs play essential roles in acclimatization of crop plants. However, evolution of these two gene families in the genus Medicago is poorly understood. RESULTS: A total of 68 CBL and 135 CIPK genes have been identified in five genomes from Medicago. Among these genomes, the gene number of CBLs and CIPKs shows no significant difference at the haploid genome level. Phylogenetic and comprehensive characteristic analyses reveal that CBLs and CIPKs are classified into four clades respectively, which is validated by distribution of conserved motifs. The synteny analysis indicates that the whole genome duplication events (WGDs) have contributed to the expansion of both families. Expression analysis demonstrates that two MsCBLs and three MsCIPKs are specifically expressed in roots, mature leaves, developing flowers and nitrogen fixing nodules of Medicago sativa spp. sativa, the widely grown tetraploid species. In particular, the expression of these five genes was highly up-regulated in roots when exposed to salt and drought stress, indicating crucial roles in stress responses. CONCLUSIONS: Our study leads to a comprehensive understanding of evolution of CBL and CIPK gene families in Medicago, but also provides a rich resource to further address the functions of CBL-CIPK complexes in cultivated species and their closely related wild relatives.


Assuntos
Secas , Proteínas de Plantas , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Medicago/metabolismo , Filogenia , Proteínas Serina-Treonina Quinases/genética , Cloreto de Sódio/metabolismo , Estresse Fisiológico/genética , Regulação da Expressão Gênica de Plantas , Proteínas de Ligação ao Cálcio/genética
7.
World J Clin Cases ; 10(14): 4661-4668, 2022 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-35663055

RESUMO

BACKGROUND: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy. Papillary thyroid microcarcinoma (PTMC) accounts for the majority of PTC cases. However, concurrent pulmonary and hepatic metastases of PTMC are rarely seen. Here, we present a patient with coexisting liver and lung metastases from PTMC. CASE SUMMARY: We describe a 26-year-old woman with PTMC with multiple concurrent metastases. After 3 d of unexplained fever, she was admitted to our hospital. Her thyroid functional tests were abnormal. Her positron emission tomography (PET)/magnetic resonance imaging (MRI) examination showed increased fluorodeoxyglucose (FDG) metabolism and space-occupying lesions in the left lobe of the thyroid. Additionally, PET/MRI images revealed multiple nodules in the lung and liver with increased FDG metabolism. Chest computer tomography (CT) showed multiple pulmonary metastases. Abdominal ultrasound and liver MRI showed multiple space-occupying lesions in the liver. The patient underwent total thyroidectomy and central lymph node dissection. Postoperative pathological analysis showed a papillary microcarcinoma multiplex in the left lobe of the thyroid. A diagnosis of hepatopulmonary metastases from papillary thyroid microcarcinoma was made. The patient was given iodine-131 treatment one year after the surgery. She recovered well after the operation, and the incision healed well. After discharge, she was treated with oral levothyroxine sodium tablets, and symptomatic and supportive treatments were also given to promote radioactive excretion and prevent bone marrow suppression by iodine-131 treatment. CONCLUSION: Since patients with thyroid cancer concurrent with hepatopulmonary metastases have rarely been reported, our case will highlight the clinical and pathological profiles of these patients.

8.
Sci Total Environ ; 822: 153304, 2022 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-35090923

RESUMO

Basalt-derived soils are widespread worldwide. Such soils contain high levels of heavy metals like chromium (Cr), which is a serious environmental concern. However, little is known regarding the enrichment and speciation of Cr during the basalt weathering process. Therefore, two basalt-derived soil profiles (Nitisol and Ferralsol) in the Leizhou Peninsula, south tropical China, were investigated to explore the redistribution and transformation of Cr during basalt weathering. All profiles could be divided into three layers: rocks, saprolites, and soils. The Nitisol and Ferralsol profiles exhibited strong (kaolinization) and extreme (laterization) degrees of weathering, respectively. Results showed that Cr concentrations in the saprolites (234 to 315 mg·kg-1) were higher than those in basalt rocks (139 to 159 mg·kg-1), indicating that Cr was enriched with the continuous loss of Si and other mobile macro-elements. While high levels of Cr were also enriched in the soils (178 to 430 mg·kg-1) accompanied with Fe. However, in the upper soils of the Ferralsol profile, the acidity and organic matter could promote the leaching of Cr. Geochemical fractions and EPMA mapping showed that chromite and olivine were the main Cr-bearing minerals in basalt, but Fe-oxides (e.g., goethite and hematite) contained the highest portion of Cr in weathered saprolites and soils. The availability of Cr in the soil was extremely low due to the high stability of Cr bound to Fe-oxides. However, the decreasing contents of Cr bound to Fe-oxides in the upper soils of the Ferralsol profile indicated that Cr could also be released during Fe leaching. In conclusion, the weathering of basalt can lead to the enrichment of Cr in Fe-(hydro)oxides, which are the main controlling minerals for Cr mobility in basalt-derived soils. Further research is needed to evaluate the effect of Fe-(hydro)oxide formation and dissolution on the release of soil Cr.


Assuntos
Cromo , Poluentes do Solo , China , Cromo/análise , Monitoramento Ambiental , Silicatos , Solo/química , Poluentes do Solo/análise
9.
Horm Metab Res ; 54(1): 50-51, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34327681

RESUMO

Luo et al. 1 reported two cases of autosomal dominant pseudohypoparathyroidism type 1B (AD-PHP1B) and reviewed literature about the genetic and epigenetic characteristics of AD-PHP1B. Pseudohypoparathyroidism (PHP) is a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). PHP1B almost results from methylation abnormalities of the maternal differentially methylated regions (DMRs) and can be divided into sporadic PHP1B and AD-PHP1B 1. As mentioned in this article 1, AD-PHP1B is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss of methylation at the A/B DMR alone or at all maternally methylated GNAS exons. While sporadic PHP1B remains unclear at the molecular level, except for approximately 10% of the patients caused by paternal uniparental isodisomy or heterodisomy involving chromosome 20q (patUPD20q) 2. Here, we would like to present a rare case of sporadic PHP1B occurring in association with hypokalemia.


Assuntos
Hipopotassemia/complicações , Pseudo-Hipoparatireoidismo/complicações , Adolescente , Feminino , Humanos , Pseudo-Hipoparatireoidismo
10.
Chemosphere ; 276: 130212, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33740654

RESUMO

Rice as a paddy field crops, iron-containing materials application could induce its iron plaque formation, thereby affecting cadmium (Cd) transportation in the rhizosphere and its uptake in root. In this study, a hydroponic experiment was conducted to investigate the effects of three exogenous iron materials, namely nano-Fe3O4-modified biochar (BC-Fe), chelated iron (EDTA-Fe), and ferrous sulfate (FeSO4), on the iron plaque formation on the surface of rice root, and to investigate the effects of formed iron plaque on the absorption, migration, and transportation of Cd and Fe in rice plant. The results showed that yellow-brown and brown iron plaque was formed on surface cells of the Fe-treated rice root, and some black particles were embedded in the iron plaque formed by BC-Fe. The proportion of crystallized iron plaque (31.8%-35.9%) formed by BC-Fe was much higher than that formed by EDTA-Fe and FeSO4. The Cd concentrations in the crystallized iron plaque formed by BC-Fe were 7.64-13.0 mg·kg-1, and increased with the increasing of Fe concentrations in the plaque. The Cd translocation factor from root to stem (TFr-s) and the Cd translocation factor from stem to leaf (TFs-l) with BC-Fe treatment decreased by 84.7% and 80.0%, respectively. The results demonstrated that application BC-Fe promoted the formation of iron plaque and enhanced the sequestration of Cd and Fe in roots, thus reduced the transportation and accumulation of Cd in aerial rice tissues.


Assuntos
Oryza , Poluentes do Solo , Cádmio/análise , Carvão Vegetal , Ferro/análise , Raízes de Plantas/química , Solo , Poluentes do Solo/análise
12.
Artigo em Inglês | MEDLINE | ID: mdl-32981877

RESUMO

OBJECTIVES: The aim of this study was to retrospectively analyze the clinical characteristics, surgical treatment, and prognosis of patients with diffuse-type tenosynovial giant cell tumor (D-TGCT) involving the temporomandibular joint (TMJ) and the skull base. STUDY DESIGN: A retrospective study was performed in patients with D-TGCT involving the TMJ and the skull base at our institute from April 2009 to August 2018. Data on clinical characteristics, surgical treatment, and prognosis were collected and analyzed. A literature search on D-TGCT involving the TMJ was conducted and the data analyzed. RESULTS: The study included 22 patients (14 males and 8 females), with an average age of 44 years. The main symptoms were headache and hearing limitation, accompanied by a swelling in the TMJ area. Magnetic resonance imaging (MRI) showed low signals on T1- and T2-weighted images. All lesions were completely removed. Temporal bone flap, titanium mesh, and temporal muscle flap were used for reconstruction. The recurrence rate was 4.5%. In the literature, 115 cases were reported. Surgery alone was performed in 88 cases; postoperative radiotherapy was performed in 19 cases; the tumor recurrence rates were 9.1% and 15.8% for the 2 procedures, respectively. All patients were alive at the end of the follow-up period. CONCLUSIONS: D-TGCT involving the TMJ and the skull base is a locally aggressive but benign lesion necessitating complete resection and has a good prognosis.


Assuntos
Tumor de Células Gigantes de Bainha Tendinosa , Recidiva Local de Neoplasia , Adulto , Feminino , Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico por imagem , Tumor de Células Gigantes de Bainha Tendinosa/cirurgia , Humanos , Masculino , Estudos Retrospectivos , Base do Crânio/diagnóstico por imagem , Base do Crânio/cirurgia , Articulação Temporomandibular/diagnóstico por imagem , Articulação Temporomandibular/cirurgia
13.
Aging (Albany NY) ; 13(1): 1186-1211, 2020 12 03.
Artigo em Inglês | MEDLINE | ID: mdl-33293476

RESUMO

Dysfunction of endothelial cells (ECs) and their progenitor cells is an important feature of diabetic vascular disease. MicroRNA (miR)-139-5p is involved in inhibiting the metastasis and progression of diverse malignancies. However, the role of miR-139-5p in ECs still remains unclarified. Here we demonstrated that miR-139-5p expression was elevated in endothelial colony-forming cells (ECFCs) isolated from patients with diabetes, ECs derived from the aorta of diabetic rodents, and human umbilical vein endothelial cells (HUVECs) cultured in high glucose media. MiR-139-5p mimics inhibited tube formation, migration, proliferation, and down-regulated expression of c-jun, vascular endothelial growth factor (VEGF), and platelet-derived growth factor (PDGF)-B, in ECFCs and HUVECs, respectively; moreover, miR-139-5p inhibitors reversed the tendency. Further, gain- and-loss function experiments and ChIP assay indicated that miR-139-5p regulate functions of ECFCs by targeting c-jun-VEGF/PDGF-B pathway. In vivo experiments (Matrigel plug assay and hindlimb ischemia model) showed that miR-139-5p downregulation further promoted ECFC-mediated angiogenesis and blood perfusion. In conclusion, diabetes-mediated high miR-139-5p expression inhibits the c-jun-VEGF/PDGF-B pathway, thus decreasing ECFCs migration, tube formation and proliferation, which subsequently reduces ECs survival. Therefore, miR-139-5p might be an important therapeutic target in the treatment of diabetic vasculopathy in the future.


Assuntos
Diabetes Mellitus Tipo 2/metabolismo , Angiopatias Diabéticas/metabolismo , Células Endoteliais/metabolismo , MicroRNAs/metabolismo , Neovascularização Fisiológica/fisiologia , Adulto , Animais , Aorta/citologia , Estudos de Casos e Controles , Feminino , Células Endoteliais da Veia Umbilical Humana , Humanos , Masculino , Camundongos , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas c-jun/metabolismo , Proteínas Proto-Oncogênicas c-sis/metabolismo , Ratos , Fator A de Crescimento do Endotélio Vascular/metabolismo
14.
Huan Jing Ke Xue ; 41(10): 4726-4732, 2020 Oct 08.
Artigo em Chinês | MEDLINE | ID: mdl-33124406

RESUMO

The absorption and accumulation of As at different stages of rice growth are significantly different. To study the key growth stages of As accumulation in brown rice and to determine the contribution of As accumulation at different growth stages to As contribution in brown rice, a rice hydroponics experiment was carried out by adding external As during the different rice growth stages: tillering stage (30 d), jointing stage (16 d), booting stage (13 d), filling stage (17 d), dough stage (15 d), maturity stage (13 d), and full growth period (104 d). The results showed that: ① As stress at different growth stages had a significant effect on the biomass of rice plants. In comparison with the control CK, the treatments of As stress with five single-stages decreased the rice biomass, except during the tillering stage. Among these treatments, although the As stress at booting stage had the lowest rice biomass, the biomass of all the rice plants were higher than that for As stress in the full growth period. ② The content of As in brown rice for all the treatments of As stress at six single-stages, ranging from 0.08-0.24 mg ·kg-1, was higher than that of CK. Among these six treatments, the As stress at booting stage had the highest As content in brown rice, accounting for 64.9% of the As content in the full growth period. ③ The accumulation of As in brown rice for all the treatments of As stress at six single-stages was higher than that of CK, and ranged from 1.4-1.5 µg ·plant-1. Among these six treatments, the As stress at booting stage had the highest As accumulation, followed by filling stage. The accumulation of As in brown rice treated with As stress was highest in the full growth period with a value of 5.7 µg ·plant-1. ④ The relative contribution of As stress at the booting stage was the highest for the As accumulation in brown rice and reached to 40.3%, followed by filling stage with 26.0%. Therefore, the rice growth stages of the booting stage and filling stage were the key stages of As accumulation in brown rice.


Assuntos
Oryza , Biomassa , Solo
15.
Ann Palliat Med ; 9(4): 1937-1943, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32762222

RESUMO

BACKGROUND: Posterior edge separation of the vertebral body is an uncommon but non-rare orthopedic disease, the traditional treatment is posterior open surgery. Recently, a lot of attempts in minimally invasive treatment of lumbar posterior edge fracture have been made. We set to discover the value of minimally invasive surgery in the treatment of posterior edge separation, we designed this retrospective study. METHODS: Eighteen patients (10 males and 8 females) with posterior edge separation were included between September 2015 and May 2019. The mean age of the patients were 49.9 years. Patients that we included were divided into two groups: people in team A were treated with percutaneous endoscopic lumbar discectomy (PELD), while the other group (team B) were carried the minimally invasive spinal surgery-transforaminal lumbar interbody fusion (MISS-TLIF). The intraoperative/postoperative complications and index were recorded respectively. Visual analogue scale (VAS) and Oswestry disability index (ODI) were applied as evaluation parameters to evaluate the effect of the procedure. RESULTS: The mean operation time and notch length in PELD group were 71 min and 6.8 mm, while these date in the other group were 105 min and 31.2 mm. In PELD group, the blood loss during the operation were 5 mL and the time lying in bed after the surgery 24 h, the data in corresponding group were 101 mL and 96 h. People included in our trial (excluding 1 defaulters) had a mean follow-up of 9 months (range, 3-12 months). The VAS and ODI score before and after the surgery had insignificant difference between the two groups (P>0.05). Compared with the data before the operation, the VAS and ODI score had significantly improved after the surgery in two groups (P<0.05). CONCLUSIONS: The MISS-TLIF and PELD were all effective methods in the treatment of posterior edge separation.


Assuntos
Procedimentos Cirúrgicos Minimamente Invasivos , Discotomia Percutânea , Feminino , Humanos , Deslocamento do Disco Intervertebral , Vértebras Lombares/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fusão Vertebral , Resultado do Tratamento
16.
Horm Metab Res ; 52(11): 788-795, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32299109

RESUMO

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited endocrine tumor syndrome caused by inactivating variants of the MEN1 gene. The aim of this study is to explore the clinical and genetic characteristics of four MEN1 patients. We isolated genomic deoxyribonucleic acid from lymphocytes, parathyroid, and thymic tumoral tissue specimens from the MEN1 patients. All exons of the MEN1 and CDNK1B genes and adjacent exon-intron sequences were amplified by polymerase chain reaction and subsequently sequenced. Further, the splice alterations were studied by sequencing the amplified RT-PCR products for MEN1 cDNA. We identified four heterozygous MEN1 germline variants: c.564delC, c.1268G>A, IVS5+5delG, and c.1546_1547insC. Both c.564delC and IVS5+5delG were novel variants. The impact of the MEN1 splice variant, IVS5+5delG, was evaluated using bioinformatics and in vitro analyses. The analyses indicated that this variant resulted in skipping of the neighboring exon and was disease-causing. Two novel somatic variants, c.249_252delGTCT and c.313_314insC, were found. Additionally, loss of heterozygosity (LOH) for the MEN1 locus (IVS5+5delG and c.564delC) was found in tumor tissue samples from the MEN1 patients, consistent with Knudson's two-hit mechanism. We identified four MEN1 germline variants and two novel somatic variants. Early recognition of the phenotype coupled with variant screening of the MEN1 gene is the key to diagnosing and treating MEN1 effectively at an early stage.


Assuntos
Neoplasia Endócrina Múltipla Tipo 1/patologia , Mutação , Fenótipo , Proteínas Proto-Oncogênicas/genética , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/genética
17.
Environ Pollut ; 260: 113970, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32014742

RESUMO

Nano-Fe3O4-modified biochar (BC-Fe) was prepared by the coprecipitation of nano-Fe3O4 on a rice husk biochar surface. The effects of BC-Fe on cadmium (Cd) bioavailability in soil and on Cd accumulation and translocation in rice (Oryza sativa L. cv. 'H You 518') were investigated in a pot experiment with 7 application rates (0.05-1.6%, w/w). BC-Fe increased the biomass of the rice plants except for the roots and affected the concentration and accumulation of Cd and Fe in the plants. The Cd concentrations of brown rice were significantly decreased by 48.9%, 35.6%, and 46.5% by the 0.05%, 0.2%, and 0.4% BC-Fe treatments, respectively. Soil cation exchange capacity (CEC) increased by 9.4%-164.1% in response to the application of BC-Fe (0.05-1.6%), while the soil Cd availability decreased by 6.81%-25.0%. However, 0.8-1.6% BC-Fe treatments promoted Cd transport to leaves, which could increase the risk of Cd accumulation in brown rice. Furthermore, BC-Fe application promoted the formation of iron plaque and enhanced the root interception of Cd. The formation of iron plaque reduced the toxicity of Cd to rice roots, but this barrier effect was limited and had an interval threshold (DCB-Fe: 22.5-27.3 g·kg-1) under BC-Fe treatments.


Assuntos
Cádmio/metabolismo , Oryza/metabolismo , Poluentes do Solo/metabolismo , Carvão Vegetal , Ferro , Raízes de Plantas , Solo
18.
Environ Sci Pollut Res Int ; 27(14): 16134-16144, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32103429

RESUMO

The use of Napier grass to remediate heavy metal-contaminated soil is a new phytoremediation technique. The objective of this study was to evaluate the ability of Napier grass (Pennisetum purpureum Schumach.) to remediate Cd- and Zn-contaminated cultivated soil under nonmowing and mowing and the possibility of safe utilization of the stem and leaf after detoxification by liquid extraction. Three Napier grass varieties, P. purpureum cv. Mott (PM), P. purpureum cv. Red (PR), and P. purpureum cv. Guiminyin (PG), were planted in a field with 3.74 mg kg-1 Cd and 321.26 mg kg-1 Zn for 180 days. The maximum amounts of Cd and Zn removed by PG were 197.5 and 5023.9 g ha-1, respectively, almost equaling those of hyperaccumulators. Compared with nonmowing, mowing did not decrease the Cd and Zn contents in various tissues but increased the biomasses of PM, PR, and PG by 86.6%, 18.9%, and 26.1%, respectively. Compared with nonmowing, the amounts of Cd removed by PM, PR, and PG under mowing increased by 110.5%, 40.0%, and 107.9%, respectively, and that of Zn increased by 63.0%, 53.1%, and 71.6%. The dominant Cd and Zn chemical fractions in Napier grass were the pectate- and protein-integrated fractions. After liquid extraction, although the nutrient element (Ca, K, Mg, and Mn) contents in the stem and leaf were reduced significantly, the Cd and Zn contents decreased below the limit of the Chinese Hygienic Standard for Feeds, and the crude protein content was largely retained. Such detoxified stems and leaves can be safely used as feeds or as raw materials for energy production.


Assuntos
Pennisetum , Poluentes do Solo/análise , Biodegradação Ambiental , Cádmio/análise , Raízes de Plantas/química , Solo , Zinco/análise
19.
Biomed Res Int ; 2019: 6272174, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31467903

RESUMO

OBJECTIVE: The spectrum of UDP-glucuronyl transferase A1 (UGT1A1) variants in hereditary unconjugated hyperbilirubinemia varies markedly between different ethnic populations. This study evaluated the UGT1A1 genotypes in hyperbilirubinemia patients from southeastern China. METHODS: We enrolled 60 patients from southeastern China (44 men and 16 women; age range: 3-76 years) with unconjugated hyperbilirubinemia and performed genetic analysis of the UGT1A1 gene by direct sequencing. RESULTS: For patients with Gilbert syndrome, 85% (47/55) harbored pathogenic variants of UGT1A1⁎60. Both UGT1A1⁎28 and UGT1A1⁎81 were detected in the promoter region of UGT1A1. Additionally, 83% (20/24) of patients with Gilbert syndrome heterozygous for UGT1A1⁎60 had an association with heterozygous variation of UGT1A1⁎28 or UGT1A1⁎81, while 91% (21/23) of Gilbert syndrome patients homozygous for UGT1A1⁎60 had biallelic variations of UGT1A1⁎28 and UGT1A1⁎81. We detected 213 UGT1A1 allelic variants, including six novel variations, with the most frequent allele being the UGT1A1⁎60, followed by UGT1A1⁎28 and UGT1A1⁎6. All of the patients showed multiple sites of variants in UGT1A1; however, variation number was not associated with bilirubin levels (P>0.05). CONCLUSIONS: The spectrum of UGT1A1 variants in southeastern Chinese patients was distinct from other ethnic populations. Our findings broaden the knowledge concerning traits associated with UGT1A1 variants and help profile genotype-phenotype correlations in hyperbilirubinemia patients.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Glucuronosiltransferase/genética , Hiperbilirrubinemia/genética , Adolescente , Adulto , Idoso , Alelos , Bilirrubina/genética , Bilirrubina/metabolismo , Criança , Pré-Escolar , China , Feminino , Frequência do Gene , Genética Populacional , Genótipo , Humanos , Hiperbilirrubinemia/patologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único , Adulto Jovem
20.
Huan Jing Ke Xue ; 40(5): 2160-2169, 2019 May 08.
Artigo em Chinês | MEDLINE | ID: mdl-31087852

RESUMO

To investigate the vertical distribution characteristics of phosphorus in the main stream sediments of the Three Gorges Reservoir (TGR), column sediment samples were collected from 5 sites in October 2010, and sediment particle size, organic matter contents, and mineral compositions were analyzed. Investigation of the contribution rate of phosphorus released from column sediments in the TGR was also conducted. The results show that the sediment pH is between 7.3-7.8. The mainstream column sediment is mainly constituted by silt and clay, which account for 49.4%-78.6% and 20.6%-50.6% of total sediments, while sand represents less than 4.4%. Median grain size of each sampling site presented a phased increase or decrease trend. The organic matter content was between 12.94 g·kg-1 and 53.43 g·kg-1, and it tended to slightly increase from upstream to downstream. The C/N ratio in the sediment was between 4.00 and 11.64, and organic matter content was mainly affected by terrigenous input. Total phosphorus (TP) content was between 861.86 mg·kg-1 and 1024.54 mg·kg-1, and it exhibited negligible change in vertical distribution. There is no obvious enrichment phenomenon of phosphorus for column sediment. The major component of sediment TP is calcium bound phosphorus (Ca-P, 47.83%-73.90%), and there are various trends for phosphorus distribution in different sampling sites. Exchangeable phosphorus (Ex-P), aluminum-bound phosphorus (Al-P), and iron-bound phosphorus (Fe-P) in the 0-4 cm surface sediment of each sampling sites was relatively high. For most sampling sites, no obvious change of phosphorus fractions in 16-20 cm of sediment was detected. Bioavailable phosphorus (the sum of Ex-P, Al-P, and Fe-P) accounted for 2.78%-7.05% of TP, indicating that bioavailability of phosphorus in the column sediments is low. The contents of bioavailable phosphorus and organic matter were significantly and positively correlated (P<0.05, N=50). The distribution and transformation of organic matter will affect the migration and transformation of sediment phosphorus in the TGR.

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