keyword
https://read.qxmd.com/read/36359897/secreted-factors-and-extracellular-vesicles-account-for-the-immunomodulatory-and-tissue-regenerative-properties-of-bone-marrow-derived-mesenchymal-stromal-cells-for-osteoarthritis
#21
JOURNAL ARTICLE
Enrico Ragni, Carlotta Perucca Orfei, Laura de Girolamo
Bone-marrow-derived mesenchymal stromal cells (BMSCs) showed therapeutic potential in the treatment of musculoskeletal diseases, including osteoarthritis (OA). Their soluble mediators and extracellular vesicles (EVs), which make up the secretome, suppress immune response, attenuate inflammation and promote cartilage repair. EVs, as well as the whole secretome, have been investigated as cell free approaches for OA although, to date, a disease-tailored molecular fingerprint is missing. In this study, soluble mediators and miRNAs were sifted in the BMSCs' secretome and EVs, respectively, and analyzed in the frame of cell types and factors involved in OA...
November 4, 2022: Cells
https://read.qxmd.com/read/36358333/molecular-characterization-of-secreted-factors-and-extracellular-vesicles-embedded-mirnas-from-bone-marrow-derived-mesenchymal-stromal-cells-in-presence-of-synovial-fluid-from-osteoarthritis-patients
#22
JOURNAL ARTICLE
Enrico Ragni, Carlotta Perucca Orfei, Federico Valli, Luigi Zagra, Laura de Girolamo
Bone marrow-derived mesenchymal stromal cells (BMSCs)-based therapies show a great potential to manage inflammation and tissue degeneration in osteoarthritis (OA) patients. Clinical trials showed the ability to manage pain and activation of immune cells and allowed restoration of damaged cartilage. To date, a molecular fingerprint of BMSC-secreted molecules in OA joint conditions able to support clinical outcomes is missing; the lack of that molecular bridge between BMSC activity and clinical results hampers clinical awareness and translation into practice...
November 8, 2022: Biology
https://read.qxmd.com/read/36330383/artificial-intelligence-scale-invariant-feature-transform-algorithm-based-system-to-improve-the-calculation-accuracy-of-ki-67-index-in-invasive-breast-cancer-a-multicenter-retrospective-study
#23
JOURNAL ARTICLE
Ning Xie, Haoyu Zhou, Li Yu, Shaobing Huang, Can Tian, Keyu Li, Yi Jiang, Zhe-Yu Hu, Quchang Ouyang
BACKGROUND: Ki-67 is a key indicator of the proliferation activity of tumors. However, no standardized criterion has been established for Ki-67 index calculation. Scale-invariant feature transform (SIFT) algorithm can identify the robust invariant features to rotation, translation, scaling and linear intensity changes for matching and registration in computer vision. Thus, this study aimed to develop a SIFT-based computer-aided system for Ki-67 calculation in breast cancer. METHODS: Hematoxylin and eosin (HE)-stained and Ki-67-stained slides were scanned and whole slide images (WSIs) were obtained...
October 2022: Annals of Translational Medicine
https://read.qxmd.com/read/36316785/a-large-pericardial-cystic-lymphangioma-presenting-as-acute-onset-respiratory-distress-in-a-child-a-case-report
#24
JOURNAL ARTICLE
Hashan Pathiraja, Dhammike Rasnayake, Thilini Muthukumarana, Channa de Silva, Wasantha Sathkorala, Sandini Gunaratne, Shaman Rajindrajith, Sachith Mettananda
BACKGROUND: Lymphangiomas are rare benign malformations of the lymphatics that occur due to blockage of the lymphatic system during fetal development. They commonly occur in the neck and axilla, while involvement of the pericardium is rare. We report herein the case of a 16-month-old Sri Lankan child with a large pericardial cystic lymphangioma presenting with sudden-onset shortness of breath. CASE PRESENTATION: A 16-month-old Sri Lankan boy presented with sudden-onset dyspnea for 1-day duration following a febrile illness that lasted 2 days...
October 31, 2022: Journal of Medical Case Reports
https://read.qxmd.com/read/36303204/whole-exome-sequencing-in-brugada-and-long-qt-syndromes-revealed-novel-rare-and-potential-pathogenic-mutations-related-to-the-dysfunction-of-the-cardiac-sodium-channel
#25
JOURNAL ARTICLE
Jia Chen, Hong Li, Sicheng Guo, Zhe Yang, Shaoping Sun, JunJie Zeng, Hongjuan Gou, Yechang Chen, Feng Wang, Yanping Lin, Kun Huang, Hong Yue, Yuting Ma, Yubi Lin
BACKGROUND: Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed "inherited primary arrhythmia syndromes" and "channelopathies", which lead to sudden cardiac death. METHODS: Detailed clinical information of Brs and LQTs patients was collected. Genomic DNA samples of peripheral blood were conducted for whole-exome sequencing on the Illumina HiSeq 2000 platform. Then, we performed bioinformatics analysis for 200 genes susceptible to arrhythmias and cardiomyopathies...
October 27, 2022: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/36275616/molecular-dynamics-study-of-tropical-calcific-pancreatitis-tcp-associated-calcium-sensing-receptor-single-nucleotide-variation
#26
JOURNAL ARTICLE
Ashish Shrivastava, Kartavya Mathur, Rohit Kumar Verma, Sri Krishna Jayadev Magani, Deepak Krishna Vyas, Ashutosh Singh
Tropical Calcific Pancreatitis (TCP) is a chronic non-alcoholic pancreatitis characterised by extensive calcification. The disease usually appears at a younger age and is more common in tropical regions. This disease's progression can lead to pancreatic diabetes, which can subsequently lead to pancreatic cancer. The CASR gene encodes a calcium-sensing receptor (CaSR), which is a GPCR protein of class C. It is expressed in the islets of Langerhans, the parathyroid gland, and other tissues. It primarily detects small gradients in circulating calcium concentrations and couples this information to intracellular signalling, which helps to regulate PTH (parathyroid hormone) secretion and mineral ion homeostasis...
2022: Frontiers in Molecular Biosciences
https://read.qxmd.com/read/36237311/fusing-hand-crafted-and-deep-learning-features-in-a-convolutional-neural-network-model-to-identify-prostate-cancer-in-pathology-images
#27
JOURNAL ARTICLE
Xinrui Huang, Zhaotong Li, Minghui Zhang, Song Gao
Prostate cancer can be diagnosed by prostate biopsy using transectal ultrasound guidance. The high number of pathology images from biopsy tissues is a burden on pathologists, and analysis is subjective and susceptible to inter-rater variability. The use of machine learning techniques could make prostate histopathology diagnostics more precise, consistent, and efficient overall. This paper presents a new classification fusion network model that was created by fusing eight advanced image features: seven hand-crafted features and one deep-learning feature...
2022: Frontiers in Oncology
https://read.qxmd.com/read/36163886/cll-299-novel-missense-single-nucleotide-polymorphisms-of-human-cd38-gene-allied-to-chronic-lymphocytic-leukemia-a-bioinformatics-approach
#28
REVIEW
Hiba Awadelkareem Osman Fadl, Abdelrahman Hamza Abdelmoneim, Sahar Gamal Elbager
CONTEXT: B-cell chronic lymphocytic leukemia (CLL) is a hematological malignancy that develops from abnormal lymphoid stem cells in the bone marrow and secondary lymphoid tissue (B-lymphocytes). One of the significant contributors to the pathogenesis of CLL is a mutation of CD38 protein. CD38 is a multifunctional ectoenzyme expressed in B-lymphocytes, with a poorly understood in the pathogenesis of CLL. OBJECTIVE AND DESIGN: Here we aimed to bioinformatically appraise CD38 missense single nucleotide polymorphisms allied to CLL and to predict their effect on the structure and function of CD38 protein...
October 2022: Clinical Lymphoma, Myeloma & Leukemia
https://read.qxmd.com/read/36105079/genotypic-and-phenotypic-characteristics-of-12-chinese-children-with-glycogen-storage-diseases
#29
JOURNAL ARTICLE
Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu
Background: Glycogen storage diseases (GSDs) are known as a group of disorders characterized by genetic errors leading to accumulation of glycogen in various tissues. Since different types of GSD can sometimes be clinically indistinguishable, next generation sequencing is becoming a powerful tool for clinical diagnosis. Methods: 12 patients with suspected GSDs and their parents were enrolled in this study. The clinical and laboratory data of the patients were reviewed. Causative gene variants were identified in the patients using whole exome sequencing (WES) and verified by Sanger sequencing...
2022: Frontiers in Genetics
https://read.qxmd.com/read/35978633/a-simulation-analysis-and-screening-of-deleterious-nonsynonymous-single-nucleotide-polymorphisms-nssnps-in-sheep-lep-gene
#30
JOURNAL ARTICLE
Shishay Girmay, Hafiz Ishfaq Ahmad, Quratul Ain Zahra
Leptin is a polypeptide hormone produced in the adipose tissue and governs many processes in the body. Recently, polymorphisms in the LEP gene revealed a significant change in body weight regulation, energy balance, food intake, and reproductive hormone secretion. This study considers its crucial role in the regulation of the economically important traits of sheep. Several computational tools, including SIFT, Predict SNP2, SNAP2, and PROVEAN, have been used to screen out the deleterious nsSNPs. Following the screening of 11 nsSNPs in the sheep genome, 5 nsSNPs, T86M (C → T), D98N (G → A), N136T (A → C), R142Q (G → A), and P157Q (C → A), were predicted to have a significant deleterious effect on the LEP protein function, leading to phenotypic difference...
2022: BioMed Research International
https://read.qxmd.com/read/35930312/identification-of-novel-genes-by-targeted-exome-sequencing-in-retinoblastoma
#31
JOURNAL ARTICLE
Shilpa Bisht, Bhavna Chawla, Amit Kumar, Viswanathan Vijayan, Manoj Kumar, Pradeep Sharma, Rima Dada
BACKGROUND: Retinoblastoma (RB) is initiated by mutation in both alleles of RB1 gene. However, few cases may occur even in the absence of RB1 mutation suggesting the role of genes other than RB1 . METHODOLOGY: The current study was planned to utilize targeted exome sequencing in Indian RB patients affected with unilateral non-familial RB. 75 unilateral RB patients below 5 years of age were enrolled. Genomic DNA was extracted from blood and tumor tissue. From peripheral blood DNA, all coding and exon/intron regions were amplified using PCR and direct sequencing...
August 5, 2022: Ophthalmic Genetics
https://read.qxmd.com/read/35889800/protective-effect-of-eurotium-cristatum-fermented-loose-dark-tea-and-eurotium-cristatum-particle-on-mapk-and-pxr-ahr-signaling-pathways-induced-by-electronic-cigarette-exposure-in-mice
#32
JOURNAL ARTICLE
Shuai Xu, Yufei Zhou, Lijun Yu, Xiangxiang Huang, Jianan Huang, Kunbo Wang, Zhonghua Liu
Electronic-cigarette smoke (eCS) has been shown to cause a degree of oxidative stress and inflammatory damage in lung tissue. The aim of this study was to evaluate the repair mechanism of Eurotium cristatum fermented loose dark tea (ECT) and Eurotium cristatum particle metabolites (ECP) sifted from ECT after eCS-induced injury in mice. Sixty C57BL/6 mice were randomly divided into a blank control group, an eCS model group, an eCS + 600 mg/kg ECP treatment group, an eCS + 600 mg/kg ECT treatment group, an eCS + 600 mg/kg ECP prevention group, and an eCS + 600 mg/kg ECT prevention group...
July 11, 2022: Nutrients
https://read.qxmd.com/read/35710746/image-improvement-of-temporal-focusing-multiphoton-microscopy-via-superior-spatial-modulation-excitation-and-hilbert-huang-transform-decomposition
#33
JOURNAL ARTICLE
Yvonne Yuling Hu, Chun-Yu Lin, Chia-Yuan Chang, Yuan-Long Lo, Shean-Jen Chen
Temporal focusing-based multiphoton excitation microscopy (TFMPEM) just provides the advantage of widefield optical sectioning ability with axial resolution of several micrometers. However, under the plane excitation, the photons emitted from the molecules in turbid tissues undergo scattering, resulting in complicated background noise and an impaired widefield image quality. Accordingly, this study constructs a general and comprehensive numerical model of TFMPEM utilizing Fourier optics and performs simulations to determine the superior spatial frequency and orientation of the structured pattern which maximize the axial excitation confinement...
June 16, 2022: Scientific Reports
https://read.qxmd.com/read/35665929/new-evidences-of-genetic-heterogeneity-of-causing-hereditary-gingival-fibromatosis-and-alk-and-cd36-as-new-candidate-genes
#34
JOURNAL ARTICLE
Renato Assis Machado, Rodrigo Soares de Andrade, Sabina Pena Borges Pêgo, Ana Cristina Victorino Krepischi, Ricardo D Coletta, Hercílio Martelli-Júnior
BACKGROUND: Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition characterized by slow but progressive fibrous, non-hemorrhagic, and painless growth of the gingival tissues due to the increased deposition of collagen and other macromolecules of the extracellular matrix. HGF occurs in approximately 1:750,000 individuals and can exhibit dominant or recessive inheritance. To date, five loci (2p21-p22, 2p22.3-p23.3, 4q12, 5q13-q22, and 11p15) and three genes [REST (RE1-silencing transcription factor), SOS1 (Son-of-Sevenless-1), and ZNF862 (zinc finger protein 862 gene)] have been associated with HGF...
June 4, 2022: Journal of Periodontology
https://read.qxmd.com/read/35605485/scene-graph-driven-semantic-feature-matching-for-monocular-digestive-endoscopy
#35
JOURNAL ARTICLE
Zhuoyue Yang, Junjun Pan, Ranyang Li, Hong Qin
BACKGROUND AND OBJECTIVE: Registration of the preoperative 3D model with the video of the digestive tract is the key task in endoscopy surgical navigation. Accurate 3D reconstruction of soft tissue surfaces is essential to complete registration. However, existing feature matching methods still fall short of desirable performance, due to the soft tissue deformation and smooth but less-textured surface. METHODS: In this paper, we present a new semantic description based on the scene graph to integrate contour features and SIFT features...
July 2022: Computers in Biology and Medicine
https://read.qxmd.com/read/35557526/clinical-and-genetic-analysis-of-a-family-with-sitosterolemia-caused-by-a-novel-atp-binding-cassette-subfamily-g-member-5-compound-heterozygous-mutation
#36
Ming-Fang Shen, Ya-Nan Hu, Wei-Xiang Chen, Li-Sheng Liao, Min Wu, Qiu-Yan Wu, Jian-Hui Zhang, Yan-Ping Zhang, Jie-Wei Luo, Xin-Fu Lin
Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 ( ABCG5 ) or member 8 ( ABCG8 ) genes. This leads to abnormal functions of the transporter sterolin-1 protein encoded by ABC G5 and sterolin-2 protein encoded by ABC G8, respectively, which can hinder the formation of stable ABCG5 / G8 heterodimers, decreasing its ability to transport sterols. As a result, phytosterols in tissue or plasma are significantly increased, leading to early onset atherosclerosis-related diseases and xanthelasma of tendons and skin...
2022: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/35441696/ephb2-as-a-recurrence-related-gene-and-a-prognostic-indicator-in-nasopharyngeal-carcinoma-a-bioinformatics-screening-and-immunohistochemistry-verification
#37
JOURNAL ARTICLE
Junjun Ling, Aoshuang Chang, Houyu Zhao, Huiping Ye, Xianlu Zhuo
Recurrence and metastasis of nasopharyngeal carcinoma (NPC) after radical treatment is a major bottleneck in clinical treatment. Therefore, we aimed to find the genes related to metastasis after radical treatment in NPC patients. Public datasets in the Gene Expression Omnibus database were consulted and the differential expression genes (DEGs) were screened out. The possible roles of the DEGs were annotated by Gene Ontology, and pathway analysis. The hub genes/proteins were then filtered out through protein-protein interaction network construction...
April 20, 2022: Histology and Histopathology
https://read.qxmd.com/read/35359208/melatonin-ameliorates-chronic-copper-induced-lung-injury
#38
JOURNAL ARTICLE
Sachin Gaun, Syed Afroz Ali, Pooja Singh, Jayant Patwa, Swaran Jeet Singh Flora, Ashok Kumar Datusalia
Copper (Cu) is an important trace element required for several biological processes. The use of copper is increasing gradually in several applications. Previous studies suggest that excess levels of copper are attributed to induce oxidative stress and inflammation, mediating tissue damage. Inline, melatonin the hormone of darkness has been reported to exhibit various therapeutic effects including strong free radical scavenging properties and anti-inflammatory effects. However, its effects against pulmonary injury promoted by copper are not explored and remain unclear so far...
March 31, 2022: Environmental Science and Pollution Research International
https://read.qxmd.com/read/35145582/deleterious-mutations-in-esophageal-carcinoma-cuniculatum-detected-by-next-generation-sequencing
#39
JOURNAL ARTICLE
Feng Yin, Kai Wang, Ming Hu, Petr Starostik, Kimberly J Newsom, Xiuli Liu
Esophageal carcinoma cuniculatum (ECC) is a rare form of extremely well-differentiated squamous cell carcinoma of esophagus that is often misdiagnosed preoperatively. The molecular changes underlying ECC remain unknown. This study aimed to explore the molecular signature of ECC using next-generation sequencing (NGS). Five cases of ECC were collected from our pathology database from 2014 to 2019. One patient received chemoradiation and the remaining four patients were treatment-naïve. Areas of normal squamous mucosa, non-invasive component, and invasive component of ECC were circled and macrodissected...
2022: International Journal of Clinical and Experimental Pathology
https://read.qxmd.com/read/35057767/synchronous-lung-and-multiple-soft-tissue-metastases-developed-from-osteosarcoma-of-tibia-a-rare-case-report-and-genetic-profile-analysis
#40
JOURNAL ARTICLE
Chuanxi Zheng, Yitian Wang, Yi Luo, Zongguo Pang, Yong Zhou, Li Min, Chongqi Tu
BACKGROUND: Osteosarcoma is the most common primary malignant bone tumor with a highly metastatic propensity in children and young adolescents. The majority of metastases develope in the lung, while metastases to the extrapulmonary locations have rarely been discussed, especially in skeletal muscle. CASE PRESENTATION: We reported a young patient with pathologically diagnosed osteosarcoma of the right tibia who was initially treated with standard chemotherapy and complete surgical resection...
January 20, 2022: BMC Musculoskeletal Disorders
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