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Samuel Addisu Abera, Amanuel Kassa Tadesse, Kirubel Addisu Abera, Kassa Berie Zegeye, Mohammed Alemu Ibrahim, Ashenafi Amsalu Feleke, Cheru Lilay Gebrehiwet, Segenet Bizuneh Mengistu, Hirut Tesfahun Alemu, Yohannis Derbew Molla
KEY CLINICAL MESSAGE: Duodenal GISTs are rare and challenging tumors. Acute life-threatening upper GI bleeding is a possible presentation of duodenal GISTs. Surgery is the standard treatment for localized duodenal GISTs. Imatinib is an effective adjuvant therapy for duodenal GISTs. ABSTRACT: GIST is the most common mesenchymal neoplasm of the gastrointestinal tract, accounting for 1%-2% of gastrointestinal tumors. They originate from the interstitial cells of Cajal and are rare in patients younger than 30 years...
April 2024: Clinical Case Reports
#2
JOURNAL ARTICLE
Wodneh G/Meskel, Kassu Desta, Regasa Diriba, Mahlet Belachew, Martin Evans, Vlademir Cantarelli, Maritza Urrego, Abay Sisay, Atsbeha Gebreegziabxier, Adugna Abera
OBJECTIVES: This study aimed to determine the SARS-CoV-2 variants in the first four COVID-19 waves using polymerase chain reaction (PCR)-based variant detection in Addis Ababa, Ethiopia. METHODS: A cross-sectional study was conducted using repository nasopharyngeal samples stored at the Ethiopian Public Health Institute COVID-19 testing laboratory. Stored positive samples were randomly selected from the first four waves based on their sample collection date. A total of 641 nasopharyngeal samples were selected and re-tested for SARS-CoV-2...
June 2024: IJID Reg
#3
JOURNAL ARTICLE
Seju Kang, Petra Choi, Ayella Maile-Moskowitz, Connor L Brown, Raul A Gonzalez, Amy Pruden, Peter J Vikesland
Wastewater-based surveillance (WBS) has gained attention as a strategy to monitor and provide an early warning for disease outbreaks. Here, we applied an isothermal gene amplification technique, reverse-transcription loop-mediated isothermal amplification (RT-LAMP), coupled with nanopore sequencing (LAMPore) as a means to detect SARS-CoV-2. Specifically, we combined barcoding using both an RT-LAMP primer and the nanopore rapid barcoding kit to achieve highly multiplexed detection of SARS-CoV-2 in wastewater...
April 12, 2024: ACS ES&T water
#4
JOURNAL ARTICLE
Shaoting Zhang, Liangying Zhang, Dan Zhang, Yue Guo, Yisha Gao, Zongying Jiang, Shujing Li, Anbu Liu, Xu Cao, Jinhai Tian, Sien Zhao, Yuanyuan Yu, Wei Yang, Ru Bai, Ling Huang, Hongli Yan, Hui Zhao, Jianmin Sun
Gastrointestinal stromal tumors (GISTs) are predominately induced by KIT mutants. In this study, we found that four and a half LIM domains 2 (FHL2) was highly expressed in GISTs and KIT signaling dramatically increased FHL2 transcription while FHL2 inhibited KIT transcription. In addition, our results showed that FHL2 associated with KIT and increased the ubiquitination of both wild-type KIT and primary KIT mutants in GISTs, leading to decreased expression and activation of KIT although primary KIT mutants were less inhibited by FHL2 than wild-type KIT...
April 17, 2024: Molecular Carcinogenesis
#5
JOURNAL ARTICLE
Burcin Tatliesme, Arzu Irvem
BACKGROUND: Upon the emergence of the Eris variant in our country, we aimed to develop an RT-qPCR kit to detect the SARS-CoV-2 Eris variant. METHODS: By studying the genome sequences uploaded to GISAID, target regions were designed by focusing on the mutation regions of EG.5 and EG.5.1, which are the main lineage of the Eris variant. When developing the kit, the hydrolysis probe-based detection (e.g., TaqMan®) method was chosen. Target sequences specific to the SARS-CoV-2 EG...
April 1, 2024: Clinical Laboratory
#6
JOURNAL ARTICLE
Chong Zhang, Meina Xu, Min Yang, Alian Liao, Peiru Lv, Xiaohong Liu, Yaosheng Chen, Hongbo Liu, Zuyong He
Coat colour largely determines the market demand for several cat breeds. The KIT proto-oncogene (KIT) gene is a key gene controlling melanoblast differentiation and melanogenesis. KIT mutations usually cause varied changes in coat colour in mammalian species. In this study, we used a pair of single-guide RNAs (sgRNAs) to delete exon 17 of KIT in somatic cells isolated from two different Chinese Li Hua feline foetuses. Edited cells were used as donor nuclei for somatic cell nuclear transfer (SCNT) to generate cloned embryos presenting an average cleavage rate exceeding 85%, and an average blastocyst formation rate exceeding 9...
April 14, 2024: Theriogenology
#7
JOURNAL ARTICLE
Itahisa Hernández-Chico, Enrique Rodríguez-Guerrero, Manuela Expósito-Ruiz, José María Navarro-Marí, José Gutiérrez-Fernández
BACKGROUND: Infections by glucose-nonfermenting gram-negative bacilli (NFGNB) pose a major public health problem due to multiresistance to beta-lactam antibiotics, especially plasmid-borne carbapenemases. Their detection by microbiology laboratories is challenging, and there is a need for easy-to-use and reliable diagnostic techniques. Our objective was to evaluate an in-house screening method to presumptively detect carbapenemases in NFGNB in a simple and clinically useful manner. METHODS: The study included 175 NFGNB isolates from urinary, respiratory, and rectal samples...
April 15, 2024: Journal of Clinical Laboratory Analysis
#8
JOURNAL ARTICLE
Somayeh Alinaghi, Marzieh Mohseni, Zohreh Fattahi, Maryam Beheshtian, Fatemeh Ghodratpour, Farzane Zare Ashrafi, Sanaz Arzhangi, Khadijeh Jalalvand, Reza Najafipour, Hamid Reza Khorram Khorshid, Kimia Kahrizi, Hossein Najmabadi
BACKGROUND: The study of Y-chromosomal variations provides valuable insights into male susceptibility in certain diseases like cardiovascular disease (CVD). In this study, we analyzed paternal lineage in different Iranian ethnic groups, not only to identify developing medical etiology, but also to pave the way for gender-specific targeted strategies and personalized medicine in medical genetic research studies. METHODS: The diversity of eleven Iranian ethnic groups was studied using 27 Y-chromosomal short tandem repeat (Y-STR) haplotypes from Y-filer® Plus kit...
February 1, 2024: Archives of Iranian Medicine
#9
JOURNAL ARTICLE
Lufei Ren, Yuyang Li, Yifan Feng, Zhe Zhang, Huijun Yang, Min Li
BACKGROUND: Chloride channel-3 ( CLCN3 ), a crucial component of the voltage-gated chloride channel family, is implicated in numerous physiological and pathophysiological processes. This study aimed to investigate the characteristics of CLCN3 in pancancer and its influence on the immune response through the use of a range of databases. Concurrently, we assessed the impact of CLCN3 on the proliferation of ovarian cancer (OC) cells and explored its potential mechanisms. METHODS: We employed the Tumor Immune Estimation Resource (TIMER) 2...
March 31, 2024: Translational Cancer Research
#10
JOURNAL ARTICLE
Norihisa Ichimura, Yusuke Urata, Takeru Kobayashi, Hideharu Hibi
OBJECTIVES: Oral mucosal melanoma (OMM) is a rare but aggressive melanoma subtype. Due to its rarity, the genomic landscape of OMM remains unknown despite a relatively thorough understanding of the genetic profile of cutaneous melanoma (CM). In this study, we analyzed the genomic mutational profiles of Japanese patients with OMM and compared them with those of patients with nose/sinuses mucosal melanoma (NMM) and CM to identify potential therapeutic targets. MATERIALS AND METHODS: We extracted clinical and genomic information of patients with OMM (n = 15), NMM (n = 63), and CM (n = 413) who underwent comprehensive genomic profiling tests under the National Health Insurance between June 2019 and November 2023 from the Center for Cancer Genomics and Therapeutics database...
April 12, 2024: Oral Oncology
#11
JOURNAL ARTICLE
Yicheng Liang, Mei Liang, Tao Yan, Xiangzhi Meng, Boxuan Zhou, Yushun Gao
Drug resistance is the major difficulty in treatment of lung squamous cell carcinoma (LUSC). This study aims to explore drug response-related miRNAs (DRmiRNAs) based on multi-omics research. We identified DRmiRNAs of LUSC with a multi-omics integrated system that combines expression data of microRNA, lncRNA, mRNA, methylation levels, somatic mutations. After identifying DRmiRNAs, we screened and validated of the target mRNAs of DRmiRNAs through Targetscan and the miRDB database. Then, Real-time PCR and Western blot assays were used to estimate the expression of DRmiRNAs and target protein, and the dual-luciferase assays were used to confirm the interaction of DRmiRNAs and target mRNA...
April 13, 2024: Biochemical Genetics
#12
Isidro Machado, Reyes Claramunt-Alonso, Javier Lavernia, Ignacio Romero, María Barrios, María José Safont, Nuria Santonja, Lara Navarro, José Antonio López-Guerrero, Antonio Llombart-Bosch
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, with proto-oncogene, receptor tyrosine kinase ( c-kit ), or PDGFRα mutations detected in around 85% of cases. GISTs without c-kit or platelet-derived growth factor receptor alpha ( PDGFRα ) mutations are considered wild-type (WT), and their diverse molecular alterations and biological behaviors remain uncertain. They are usually not sensitive to tyrosine kinase inhibitors (TKIs). Recently, some molecular alterations, including neurotrophic tyrosine receptor kinase ( NTRK ) fusions, have been reported in very few cases of WT GISTs...
March 26, 2024: International Journal of Molecular Sciences
#13
REVIEW
Paweł Sobczuk, Michał Cholewiński, Piotr Rutkowski
INTRODUCTION: Increasing evidence from preclinical and clinical studies suggests the role of vascular endothelial growth factor (VEGF) signaling in melanoma progression, response to therapy, and overall survival. Moreover, the discovery of the potential involvement of the VEGF pathway in resistance to immunotherapy has led to new clinical trials with VEGFR inhibitors. AREAS COVERED: We have reviewed recent literature, mainly published within the last 5 years, on VEGFR-targeted treatments for advanced melanoma, including mucosal, acral, and uveal melanoma...
April 12, 2024: Expert Opinion on Pharmacotherapy
#14
JOURNAL ARTICLE
Sai Huang, Peng Chen, Lu Wang, Lingmin Xu, Nan Wang, Fei Li, Liping Dou, Daihong Liu
BACKGROUND: Acute myeloid leukemia (AML) is a heterogeneous hematopoietic malignancy whose prognosis is associated with several biomarkers. Decitabine, a deoxyribonucleic acid (DNA) methyltransferase (DNMT) inhibitor, combined with cytarabine, aclarubicin hydrochloride, and granulocyte colony-stimulating factor (DCAG), has been used in patients newly diagnosed with AML. This regimen has been especially used in older and fragile patients who are immunocompromised or have co-morbidities, as well as those with specific gene mutations...
April 2024: Cancer Pathog Ther
#15
Ida De Luca, Daniela Miliziano, Giulia Guerra, Roberto Colombo, Carlo Morosi, Carlo Sposito, Marco Fiore, Elisabetta Venturelli, Claudia Sangalli, Paolo G Casali, Adalberto Cavalleri, Elena Fumagalli
PURPOSE: To study plasma levels, efficacy and tolerability of imatinib in a patient affected by metastatic GIST treated with oral Imatinib and undergoing hemodialysis. PATIENTS AND METHODS: The patient suffered from metastatic GIST to the liver having a mutation of exon 9 of KIT. He was on hemodialysis and received first-line treatment with imatinib 400 mg/day. RESULTS: The overall mean plasma level of imatinib was 1875,4 ng/ml pre-dialysis, 1553,0 ng/ml post-dialysis and 1998,1 ng/ml post-24h...
April 15, 2024: Heliyon
#16
JOURNAL ARTICLE
Yulong Zhang, Chenxi Gao, Juncong Luo, Arsalan Khan, Mounir M Salem-Bekhit, Mohamed M Salem, Zeng Qi, Bo Jiang
Skin Cutaneous Melanoma (SKCM) is a form of cancer that originates in the pigment-producing cells, known as melanocytes, of the skin. Delay wound healing is often correlated with the occurrence of and progression of SKCM. In this comprehensive study, we investigated the intricate roles of two important wound healing genes in SKCM, including Matrix Metalloproteinase-2 (MMP2) and Matrix Metalloproteinase-9 (MMP9). Through a multi-faceted approach, we collected clinical samples, conducted molecular experiments, including RT-qPCR, bisulphite sequencing, cell culture, cell Counting Kit-8, colony formation, and wound healing assays...
April 2024: International Wound Journal
#17
JOURNAL ARTICLE
Emily Everdell, Zhenyu Ji, Ching-Ni Njauw, Hensin Tsao
Acral and mucosal melanomas are often driven by sequence variants in the KIT receptor tyrosine kinase, with nearly 40% harboring alterations in the KIT locus. Despite advances in the knowledge of KIT -mutated melanomas, little is known about the molecular reprogramming that occurs during KIT-mediated melanoma progression owing to the rarity of acral and mucosal melanomas and the lack of comprehensive biological tools and models. To this end, we used a murine model that allows us to ascertain the molecular underpinnings of the stages of cancer progression-transformation, tumorigenesis, immune engagement, and tumor escalation...
May 2024: JID innovations
#18
JOURNAL ARTICLE
Josquin Moraly, Julien Rossignol, Claire Rouzaud, Thomas Gabas, Hassiba Bouktit, Ludovic Lhermitte, Danielle Canioni, Sylvie Fraitag, Julie Bruneau, Stéphane Barete, Felipe Suarez, Thomas Ballul, Cécile Meni, Laura Polivka, Louis Terriou, David Launay, Laurence Bouillet, Caroline Gaudy-Marqueste, Marie Gousseff, Edwige Le Mouel, Antoine Neel, Dana Ranta, Roland Jaussaud, Philippe Guilpain, Laurent Frenzel, Julie Agopian, Patrice Dubreuil, Céline Greco, Sophie Dimicoli-Salazar, Mael Heiblig, Clément Gourguechon, Olivier Tournilhac, Rose-Marie Javier, Florence Castelain, Quentin Cabrera, Marie Pierre Gourin, Ewa Wierzbicka-Hainaut, Jose Miguel Torregrosa-Diaz, Cristina Bulai, Christian Lavigne, Cyrille Hoarau, Michel Arock, Gandhi Damaj, Olivier Lortholary, Olivier Hermine
Systemic mastocytosis (SM) corresponds to a rare and heterogeneous spectrum of diseases characterized by the accumulation of atypical mast cells (MCs). Advanced mastocytosis (Adv-SM) is associated with poor survival; in contrast, patients with non-advanced SM (non-Adv-SM) usually have a normal life expectancy but may experience poor quality of life. Despite recent therapeutic progress including tyrosine kinase inhibitors, new treatment options are needed for refractory and/or intolerant patients with both severely symptomatic and Adv-SM...
April 6, 2024: American Journal of Hematology
#19
JOURNAL ARTICLE
Fatos Dilan Koseoglu, Fatma Keklik Karadag, Hale Bulbul, Erdem Ugur Alici, Berk Ozyilmaz, Taha Resid Ozdemir
The demand for Janus Kinase-2 (JAK2) testing has been disproportionate to the low yield of positive results, which highlights the need for more discerning test strategies. The aim of this study is to introduce an artificial intelligence application as a more rational approach for testing JAK2 mutations in cases of erythrocytosis. Test results were sourced from samples sent to a tertiary hospital's genetic laboratory between 2017 and 2023, meeting 2016 World Health Organization criteria for JAK2V617F mutation testing...
April 5, 2024: Medicine (Baltimore)
#20
JOURNAL ARTICLE
Ankur R Sangoi, Kristyna Pivovarcikova, Mahmut Akgul, Sean R Williamson, Monica Ulamec, Joanna Dominica Rogala, Petr Martinek, Tomas Vanecek, Ondrej Hes, Reza Alaghehbandan
In addition to "classic" and eosinophilic subtype, chromophobe renal cell carcinoma (RCC) is well-known to demonstrate various morphological patterns including adenomatoid, microcystic, pigmented, multicystic, papillary, neuroendocrine-like, and small cell-like, all of which are important to appreciate for accurate diagnosis. Herein, we expand on a unique chromophobe RCC morphology not previously described consisting of tumor cells with extensive stromal retraction, mimicking upper urothelial tract micropapillary carcinoma (MPC)...
April 3, 2024: International Journal of Surgical Pathology
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