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1.
Nucleic Acids Res ; 50(D1): D340-D346, 2022 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-34718740

RESUMO

Liquid-liquid phase separation (LLPS) partitions cellular contents, underlies the formation of membraneless organelles and plays essential biological roles. To date, most of the research on LLPS has focused on proteins, especially RNA-binding proteins. However, accumulating evidence has demonstrated that RNAs can also function as 'scaffolds' and play essential roles in seeding or nucleating the formation of granules. To better utilize the knowledge dispersed in published literature, we here introduce RNAPhaSep (http://www.rnaphasep.cn), a manually curated database of RNAs undergoing LLPS. It contains 1113 entries with experimentally validated RNA self-assembly or RNA and protein co-involved phase separation events. RNAPhaSep contains various types of information, including RNA information, protein information, phase separation experiment information and integrated annotation from multiple databases. RNAPhaSep provides a valuable resource for exploring the relationship between RNA properties and phase behaviour, and may further enhance our comprehensive understanding of LLPS in cellular functions and human diseases.


Assuntos
Bases de Dados de Ácidos Nucleicos , Organelas/química , Transição de Fase , Proteínas de Ligação a RNA/química , RNA/química , Software , Animais , Células Eucarióticas/citologia , Células Eucarióticas/metabolismo , Humanos , Internet , Anotação de Sequência Molecular , Organelas/metabolismo , Plantas/química , Plantas/genética , Plantas/metabolismo , RNA/classificação , RNA/genética , RNA/metabolismo , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/metabolismo , Saccharomyces cerevisiae/química , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo
2.
Medicine (Baltimore) ; 103(23): e38424, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38847721

RESUMO

RATIONAL: Congenital hepatic fibrosis (CHF) is a rare autosomal recessive genetic disease, which is often diagnosed in children and young adults. The clinical manifestations of CHF were lack of specificity, mainly including portal hypertension related symptoms and signs, and normal or mildly abnormal liver function. When no obvious varices are indicated under endoscope, it can easily lead to misdiagnosis or missed diagnosis. We report this case in the hope of raising awareness of this disease. PATIENT CONCERNS: A 31 years old male patient with major clinical manifestations of unexplained thrombocytopenia for 5 years. DIAGNOSES: Results of ultrasound, magnetic resonance imaging (MRI) and computed tomography portal venography (CTV) showed that patient had liver cirrhosis with portal hypertension and liver biopsy revealed CHF. INTERVENTION: Patient received ursodeoxycholic acid tablets, fuzheng huayu capsule, ganshuang granule, etc for liver protection treatment. OUTCOMES: The condition of patient stabilized after symptomatic treatment. Spleen resection will be considered during follow-up. LESSONS: This case reminds us that in case of patients with negative endoscopic evaluation, ultrasonic, computed tomography (CT) and MRI examination should be performed at the same time to determine whether patients have portal hypertension. When patients with normal or mildly abnormal liver function had unexplained liver cirrhosis complicated with portal hypertension, the possibility of CHF should be considered.


Assuntos
Varizes Esofágicas e Gástricas , Cirrose Hepática , Humanos , Masculino , Varizes Esofágicas e Gástricas/etiologia , Varizes Esofágicas e Gástricas/diagnóstico , Adulto , Cirrose Hepática/complicações , Hipertensão Portal/complicações , Hipertensão Portal/diagnóstico , Doenças Genéticas Inatas/complicações , Doenças Genéticas Inatas/diagnóstico , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos
3.
Front Med (Lausanne) ; 10: 1243599, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38148912

RESUMO

Objectives: This study aimed at exploring the ultrasound characteristics of superficial lymph nodes (LNs) in HIV patients with Talaromyces marneffei infection to provide assistance and understanding for diagnosis and therapy. Methods: A retrospective analysis was conducted on 26 patients with confirmed HIV and T.marneffei coinfection. These patients underwent ultrasound examination and ultrasound-guided puncture biopsies at our hospital from March 2015 to March 2023. Results: In all 26 patients, lymphadenectasis was observed. Among the 21 cases (80.76%), LNs showed a diffusely hyperechoic appearance with a tulle-like change, and 6 cases (23.07%) showed liquefaction. When the hila were present or thinned, the blood flow signals were primarily hilar, whether rich or poor, and when the hila were absent, the blood flow signals were peripheral or poor. The axillary LN long-to-short diameter (L/S) ratios exhibited a significant positive correlation with CD4+T cell counts (r = 0.8214, p = 0.0341). Patients with retroperitoneal lymphadenectasis showed decreased NK cell counts (p = 0.03). Conclusion: In summary, the T.marneffei infection of LNs in HIV patients often manifests with superficial LN enlargement, mostly affecting the cervical LNs. The T.marneffei-infected LNs exhibit several characteristics such as echogenicity, hilum, and blood flow signal. Furthermore, there might be associations between lymphocyte subsets and enlarged superficial LNs. Ultrasound examinations should be paid attention to if patients have superficial LN enlargement, and the diagnosis of the T.marneffei infection is considered.

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