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2.
Front Genet ; 14: 1115027, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37007969

RESUMO

Here, we report a case of rubella virus-induced granulomatous dermatitis in a young girl with immunodeficiency caused by DCLRE1C gene mutations. The patient was a 6-year-old girl who presented with multiple erythematous plaques on the face and limbs. Biopsies of the lesions revealed tuberculoid necrotizing granulomas. No pathogens could be identified on extensive special stains, tissue cultures, or PCR-based microbiology assays. Metagenomic next-generation sequencing analysis revealed the rubella virus. Underlying atypical severe combined immunodeficiency was recognized based on the patient's history of repetitive infections since birth, low T-cell, B-cell, and NK cell counts, and abnormal immunoglobulins and complements. Whole-exome sequencing revealed the genetic abnormality of the atypical severe combined immunodeficiency (SCID), and compound heterozygous mutations of the DCLRE1C gene were detected. This report highlights the diagnostic values of metagenomic next-generation sequencing in identifying rare pathogens causing cutaneous granulomas in patients with atypical SCID.

3.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 47(7): 973-980, 2022 Jul 28.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-36039596

RESUMO

We reported a case of tuberous sclerosis complex with facial angiofibroma as the initial presentation and conducted a multidisciplinary discussion. The patient, a young female, was admitted to the Department of Dermatology for cosmetic purpose. After the examination, she was found to have multiple system involvement, including a large renal angiomyolipoma pressing on the liver. She never had any subjective symptom. After consultation by the multidisciplinary team of tuberous sclerosis complex, the patient was treated with everolimus orally and followed up regularly. It is suggested that dermatologists should pay attention to the systemic involvement of patients with tuberous sclerosis complex. Early intervention can prolong the life of patients and improve their life quality. Multidisciplinary collaboration for lifelong disease management is the key to enhance the diagnosis and treatment for tuberous sclerosis complex and enhance the prognosis of patients.


Assuntos
Angiomiolipoma , Neoplasias Renais , Dermatopatias , Esclerose Tuberosa , Angiomiolipoma/complicações , Angiomiolipoma/diagnóstico , Angiomiolipoma/patologia , Everolimo , Feminino , Humanos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/patologia
4.
Foods ; 11(15)2022 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-35954052

RESUMO

The mellow and thick taste is a unique characteristic of pu-erh ripe tea infusion, and it is closely related to the chemical composition of pu-erh ripe tea, which is less studied. This paper clarifies and compares the chemical composition of pu-erh ripe tea to that of the raw materials of sun-dried green tea, and uses membrane separation technology to separate pu-erh ripe tea into the rejection liquid and the filtration liquid. The results show that microorganisms transformed most physicochemical components, except caffeine, during the pile fermentation. It was found that total tea polyphenols, soluble proteins, total soluble sugars, theabrownin, and galloylated catechins became enriched in the rejection liquid, and the rejection liquid showed a more obvious mellow and thick characteristic. Taste interactions between crude protein, crude polysaccharide, and theabrownin were determined. They illustrated that the mellow and thick taste of pu-erh ripe tea with the addition of theabrownin increased from 4.45 to 5.13. It is of great significance to explore the chemical basis of the mellow and thick taste in pu-erh tea for guiding the pu-erh tea production process and for improving the quality of pu-erh tea.

5.
J Biol Chem ; 297(5): 101182, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34534547

RESUMO

Circular RNAs (circRNAs) are a novel class of widespread noncoding RNAs that regulate gene expression in mammals. Recent studies demonstrate that functional peptides can be encoded by short open reading frames in noncoding RNAs, including circRNAs. However, the role of circRNAs in various physiological and pathological states, such as cancer, is not well understood. In this study, through deep RNA sequencing on human endometrial cancer (EC) samples and their paired adjacent normal tissues, we uncovered that the circRNA hsa-circ-0000437 is significantly reduced in EC compared with matched paracancerous tissue. The hsa-circ-0000437 contains a short open reading frame encoding a functional peptide termed CORO1C-47aa. Overexpression of CORO1C-47aa is capable of inhibiting angiogenesis at the initiation stage by suppressing endothelial cell proliferation, migration, and differentiation through competition with transcription factor TACC3 to bind to ARNT and suppress VEGF. CORO1C-47aa directly bound to ARNT through the PAS-B domain, and blocking the association between ARNT and TACC3, which led to reduced expression of VEGF, ultimately lead to reduced angiogenesis. The antitumor effects of CORO1C-47aa on EC progression suggest that CORO1C-47aa has potential value in anticarcinoma therapies and warrants further investigation.


Assuntos
Neoplasias do Endométrio , Regulação Neoplásica da Expressão Gênica , Proteínas dos Microfilamentos , Proteínas de Neoplasias , Neovascularização Patológica , Peptídeos , RNA Circular , RNA Neoplásico , Animais , Neoplasias do Endométrio/irrigação sanguínea , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/metabolismo , Neoplasias do Endométrio/patologia , Feminino , Humanos , Camundongos Endogâmicos BALB C , Camundongos Nus , Proteínas dos Microfilamentos/biossíntese , Proteínas dos Microfilamentos/genética , Proteínas de Neoplasias/biossíntese , Proteínas de Neoplasias/genética , Neovascularização Patológica/genética , Neovascularização Patológica/metabolismo , Neovascularização Patológica/patologia , Peptídeos/genética , Peptídeos/metabolismo , RNA Circular/biossíntese , RNA Circular/genética , RNA Neoplásico/biossíntese , RNA Neoplásico/genética
6.
Environ Sci Pollut Res Int ; 28(7): 7828-7839, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33040291

RESUMO

Iron (Fe) fertilizer can reduce cadmium (Cd) uptake and toxicity in rice, but the underlying mechanisms of Cd mitigation by different fertilizers are poorly understood. Here, pot experiments in rice were conducted to characterize the effects of four types of foliar-applied Fe fertilizer (chelated ferrous Fe, ferric Fe, ionic ferrous Fe, and ferric Fe) at three doses (20, 50, and 100 mg L-1) on photosynthetic capacity, antioxidant ability, yield, and Cd accumulation in Cd-contaminated soil. The results showed that foliar Fe application increased the net photosynthesis rate by 19.3%, peroxidase (POD) by 18.2%, superoxide dismutase (SOD) by 26.9%, and catalase (CAT) by 19.6%, and led to a 7.2% increase in grain yield compared with the control. Moreover, foliar Fe application significantly reduced Cd accumulation by 15.9% in brown rice and decreased the translocation of Cd from roots to other plant tissues. Overall, application of moderate doses (50 mg L-1) of chelated ferrous Fe was the most effective method for reducing Cd uptake (decreasing the Cd concentration in brown rice by 29.0%) and toxicity in rice (decreasing malondialdehyde by 23.2% and increasing POD, SOD, and CAT by 54.4%, 51.6%, and 45.7%, respectively), which may stem from the fact that chelated ferrous Fe was a more stable and bioavailable source of Fe for rice. The Cd concentration in rice had negative relationship with Fe concentration, and the translocation of Cd from root to the other tissues was reduced by the higher Fe nutrition status in leaf, suggesting that a high Fe supply may decrease Cd content by inhibiting the expression of the Fe transport system. These results indicate that foliar application of chelated ferrous Fe provides a promising alternative approach for enhancing growth and controlling Cd accumulation in rice plants. Furthermore, these results advance our understanding of the associations between plant Fe nutrition status and Cd accumulation.


Assuntos
Oryza , Poluentes do Solo , Antioxidantes , Cádmio/análise , Fertilizantes , Ferro/análise , Solo , Poluentes do Solo/análise
7.
Environ Pollut ; 249: 414-422, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30913440

RESUMO

To better understand the Sb phytoavailability in rice, we studied Sb accumulation in rice (Zhongjiazao-17, widely cultivated in Hunan province) at different growth stages based on adding SbIII and SbV to waterlogged soils in 10, 50 and 100 mg kg-1 treatment levels. Proportional exogenous SbIII and SbV remained in the soil solution after equilibration. In SbIII treatments, the iron plaque (IP) amounts and Sb in rice roots sharply increased from tillering to jointing stages and then reduced at the following stages. However, in SbV treatments, they increased continuously from tillering to maturing stages. The accumulation trends of Sb in straws, ears and grains were consistent in SbIII and SbV treatments, rising from tillering to jointing stages followed with reducing from jointing to flowering stages slightly, and rising again significantly from flowering to maturing stages. The Tfsoil-grain values in all the Sb treatments were low (0.77 × 10-3-5.1 × 10-3), However, when Sb in waterlogged soils were higher than 50 mg kg-1, it could pose human health risk for residents.


Assuntos
Antimônio/análise , Ferro/análise , Oryza/química , Oryza/crescimento & desenvolvimento , Poluentes do Solo/análise , China , Humanos , Raízes de Plantas/química , Solo/química
8.
Zhonghua Wei Chang Wai Ke Za Zhi ; 15(9): 906-9, 2012 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-22990920

RESUMO

OBJECTIVE: To explore the safety and short-term efficacy of laparoscopic transhiatal proximal gastrectomy in patients with adenocarcinoma of the esophagogastric junction. METHODS: From Aug 2008 to May 2011, 98 patients with adenocarcinoma of the esophagogastric junction underwent laparoscopic transhiatal proximal gastrectomy. Clinical data were analyzed retrospectively including operative time, estimated bleeding, length of resection, lymph node dissection, and short-term postoperative complications. RESULTS: Ninety-six patients underwent laparoscopic transhiatal proximal gastrectomy successfully and 2 were converted to open operation (one for combined splenectomy and the other combined splenectomy and resection of the tail of the pancreas). The mean operative time was (224.1±33.7) min and the mean blood loss was (69.4±26.1) ml. The mean length of esophageal resection was (4.0±0.6) cm and the resection margin was negative. The number of lymph node removed was 16.4±5.7. Pleural laceration occurred in 14 cases and spleen injury occurred in 3 case during operation. There was one anastomotic leakage. There were no postoperative mortalities, bleeding, anastomotic stenosis and wound infection. After follow-up ranging from 3 to 30 months, the value of reflux diagnostic questionnaire (RDQ) was 9.9±4.4 at 1 month and 9.3±4.3 at 3 months postoperatively. No incision metastasis was found and 5 patients died. CONCLUSION: Laparoscopic transhiatal proximal gastrectomy is safe for patients with adenocarcinoma of the esophagogastric junction and the short-term clinical outcomes are favorable.


Assuntos
Adenocarcinoma/cirurgia , Junção Esofagogástrica , Gastrectomia/métodos , Laparoscopia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Junção Esofagogástrica/patologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
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