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JOURNAL ARTICLE
Tobias Suske, Helena Sorger, Gabriele Manhart, Frank Ruge, Nicole Prutsch, Mark W Zimmerman, Thomas Eder, Diaaeldin I Abdallah, Barbara Maurer, Christina Wagner, Susann Schönefeldt, Katrin Spirk, Alexander Pichler, Tea Pemovska, Carmen Schweicker, Daniel Pölöske, Emina Hubanic, Dennis Jungherz, Tony Andreas Müller, Myint Myat Khine Aung, Anna Orlova, Ha Thi Thanh Pham, Kerstin Zimmel, Thomas Krausgruber, Christoph Bock, Mathias Müller, Maik Dahlhoff, Auke Boersma, Thomas Rülicke, Roman Fleck, Elvin Dominic de Araujo, Patrick Thomas Gunning, Tero Aittokallio, Satu Mustjoki, Takaomi Sanda, Sylvia Hartmann, Florian Grebien, Gregor Hoermann, Torsten Haferlach, Philipp Bernhard Staber, Heidi Anne Neubauer, Alfred Thomas Look, Marco Herling, Richard Moriggl
T cell acute lymphoblastic leukemia (T-ALL) is an aggressive immature T cell cancer. Mutations in IL7R have been analyzed genetically, but downstream effector functions such as STAT5A and STAT5B hyperactivation are poorly understood. Here, we studied the most frequent and clinically challenging STAT5BN642H driver in T cell development and immature T cell cancer onset and compared it with STAT5A hyperactive variants in transgenic mice. Enhanced STAT5 activity caused disrupted T cell development and promoted an early T cell progenitor-ALL phenotype, with upregulation of genes involved in T cell receptor (TCR) signaling, even in absence of surface TCR...
April 15, 2024: Journal of Clinical Investigation
#22
REVIEW
Adrienne M Hammill, Elisa Boscolo
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit α (Gαq) in CM and SWS patient tissues...
April 15, 2024: Journal of Clinical Investigation
#23
REVIEW
Brenda Castro, Jason C Steel, Christopher J Layton
Glaucoma and uveitis are non-vascular ocular diseases which are among the leading causes of blindness and visual loss. These conditions have distinct characteristics and mechanisms but share a multifactorial and complex nature, making their management challenging and burdensome for patients and clinicians. Furthermore, the lack of symptoms in the early stages of glaucoma and the diverse aetiology of uveitis hinder timely and accurate diagnoses, which are a cause of poor visual outcomes under both conditions...
April 15, 2024: Expert Reviews in Molecular Medicine
#24
JOURNAL ARTICLE
Yuichiro Miki, Mami Yoshii, Ryoko Miyauchi, Hiroaki Kasashima, Tatsunari Fukuoka, Tatsuro Tamura, Masatsune Shibutani, Takahiro Toyokawa, Shigeru Lee, Masakazu Yashiro, Kiyoshi Maeda
Connective tissue growth factor (CTGF) is a target gene of the Hippo signaling pathway. Its differential role in the histological types of gastric cancer (GC) remains unknown; therefore, the present study aimed to confirm the clinical significance of CTGF expression in cancer and stromal cells in patients with GC depending on the histological type. The present study enrolled 589 patients with GC. Immunohistochemistry was used to analyze CTGF expression in cancer and stromal cells. CTGF mRNA expression data and the corresponding clinical information of GC samples were collected from The Cancer Genome Atlas (TCGA) database...
June 2024: Oncology Letters
#25
Koji Hayashi, Rei Asano, Mamiko Sato, Yuka Nakaya, Asuka Suzuki, Naoko Takaku, Kouji Hayashi, Yasutaka Kobayashi
Apraxia of eyelid opening (AEO) is occasionally seen in Parkinson's disease (PD) or related diseases. However, many clinicians have trouble with the management of AEO by Parkinsonism. In this report, we describe a case of AEO in Parkinsonism improved by trihexyphenidyl (THP). The patient was a 64-year-old woman, who was previously healthy but developed bradykinesia. She was clinically diagnosed as PD due to an L-dopa challenge test, but no other detailed tests were performed. She started antiparkinsonian medications and her symptoms were improved at an early phase...
March 2024: Curēus
#26
JOURNAL ARTICLE
Porter F Young, Christopher Roberts, Glenn G Shi, Michael G Heckman, Launia White, Steven Clendenen, Benjamin Wilke
INTRODUCTION: Orthopedic surgeons are the third highest prescribers of narcotics. Previous work demonstrated that surgeons prescribe three times the narcotics required, and most patients do not properly dispose of leftover medication following surgery. This has prompted the creation of multimodal pain regimens to reduce reliance on narcotics. It is unknown if these pathways can effectively eliminate opioids following total knee arthroplasty (TKA). Our purpose was to evaluate a multimodal regimen without schedule II narcotics following TKA, in a randomized, blinded fashion...
March 2024: Curēus
#27
JOURNAL ARTICLE
Nafiseh Niknam, Shekoofeh Nikooei, Hassan Ghasemi, Seyed Sajjad Zadian, Kamran Goudarzi, Seyed Majid Ahmadi, Behnam Alipoor
BACKGROUND: Recent studies have implicated dysregulated long non-coding RNA (lncRNA) levels in the pathogenesis of type 2 diabetes (T2D). This study aimed to assess the expression of circulating HOTAIR and uc.48+, examining their correlation with clinical and biochemical variables in T2D patients, pre-diabetic individuals, and healthy controls. METHODS: Peripheral blood levels of lncRNAs were quantified using QRT-PCR in 65 T2D patients, 63 pre-diabetic individuals, and 63 healthy subjects...
October 2023: Reports of Biochemistry & Molecular Biology
#28
JOURNAL ARTICLE
Shaina Sedighim, Brynn Sargent, Areg Grigorian, Christina Grabar, Anvesh R Macherla, Michael Oh, Yu-Po Lee, John Scolaro, Jefferson Chen, Jeffry Nahmias
INTRODUCTION: Both Orthopedic Surgery (OS) and Neurosurgery (NS) perform spine surgery in the setting of trauma. However, it is unknown whether outcomes differ between these specialties. This study compares management and outcomes for vertebral fractures between NS and OS, hypothesizing similar operation rate, length of stay (LOS), and readmission. RESEARCH QUESTION: Do outcomes differ between NS and OS in the management of vertebral fractures following trauma? METHODS: A retrospective single-center study was conducted on adult patients with cervical, thoracic, lumbar, and sacral fractures treated at a single trauma center, where no standardized pathway exists across NS and OS...
2024: Brain Spine
#29
Xian Duan, Qing Zheng, Lihui Liang, Lin Zhou
AIM: To explore the diagnostic value of serum-derived exosomal miRNAs and predict the roles of their target genes in Alzheimer's disease (AD) based on the expression of miRNAs in AD patients. METHODS: We determined the relative concentration of exosomal miRNAs by High-throughput Second-generation Sequencing and real-time quantitative real-time PCR. RESULTS: 71 AD patients and 71 ND subjects were collected. The study demonstrated that hsa-miR-125b-1-3p, hsa-miR-193a-5p, hsa-miR-378a-3p, hsa-miR-378i and hsa-miR-451a are differentially expressed in the serum-derived exosomes of AD patients compared with healthy subjects...
2024: Degenerative Neurological and Neuromuscular Disease
#30
JOURNAL ARTICLE
Cathrine Bell, Charlotte Weiling Appel, Anders Prior, Anne Frølich, Asger Roer Pedersen, Peter Vedsted
INTRODUCTION: Patients with multimorbidity attend multiple outpatient clinics. We assessed the effects on hospital use of scheduling several outpatient appointments to same-day visits in a multidisciplinary outpatient pathway (MOP). METHODS: This study used a quasi-experimental design. Eligible patients had multimorbidity, were aged ≥18 years and attended ≥2 outpatient clinics in five different specialties. Patients were identified through forthcoming appointments from August 2018 to March 2020 and divided into intervention group (alignment of appointments) and comparison group (no alignment)...
2024: International Journal of Integrated Care
#31
REVIEW
Prashant Singh, Gregory S Sayuk, David P Rosenbaum, Susan Edelstein, Kenji Kozuka, Lin Chang
BACKGROUND: Patients with irritable bowel syndrome with constipation (IBS-C) experience persistent abdominal pain, a common symptom leading to greater healthcare utilization and reports of treatment non-response. Clinically significant improvements in abdominal pain were observed in clinical trials of tenapanor, a first-in-class inhibitor of sodium/hydrogen exchanger isoform 3 (NHE3), for the treatment of IBS-C in adults. AIM: This narrative review reports the current knowledge about visceral hypersensitivity as a mechanism for abdominal pain in patients with IBS-C and explores the published evidence for hypothesized mechanisms by which tenapanor may reduce visceral hypersensitivity leading to the observed clinical response of decreased abdominal pain...
2024: Clinical and Experimental Gastroenterology
#32
REVIEW
Prasanna Venkatesh Ramesh, Arvind Kumar Morya, Ashik Azad, Pavithra Pannerselvam, Aji Kunnath Devadas, Sai Thaejesvi Gopalakrishnan, Shruthy Vaishali Ramesh, Ajanya K Aradhya
Glaucoma, a prevalent and debilitating eye disease, has long been associated with vision impairment and blindness. However, recent research has shed light on the often-underestimated psychological dimensions of this condition. Anxiety and depression, two pervasive psychiatric comorbidities, have been increasingly recognized among glaucoma patients. This comprehensive review aims to explore the intricate relationship between psychiatry and ophthalmology, in the context of managing depression and anxiety in glaucoma patients...
March 19, 2024: World Journal of Psychiatry
#33
JOURNAL ARTICLE
Qian Li, Fang Li, Xinqiu Song, Ning Lu, Xintao Jing, Hua Wen, Peihan Ma, Hua Zhang, Wenzhu Yao, Xiaofei Wang, Mingxin Zhang
BACKGROUND: ARF family proteins are a kind of small GTPases, which are involved in regulating a variety of basic functions of cells. In recent years, the role and molecular regulatory mechanisms of ARFs in tumor progression have received increasing attention, and research reports on most of their family members are increasing. However, research on the clinical and pathological relevance of ARF5 in cancer, especially in hepatocellular carcinoma, still needs to be improved. METHODS: RNA-seq data in the Cancer Genome Atlas (TCGA) and genome tissue expression (GTEx) databases were used to analyze the expression and pathological data of ARFs family in Pan-cancer...
April 15, 2024: Heliyon
#34
JOURNAL ARTICLE
Zhenwei Wang, Zongtai Zheng, Bangqi Wang, Changxin Zhan, Xuefeng Yuan, Xiaoqi Lin, Qifan Xin, Zhihui Zhong, Xiaofu Qiu
Clear cell renal cell carcinoma (ccRCC) presents challenges in early diagnosis and effective treatment. In this study, we aimed to establish a prognostic model based on G2M checkpoint-related genes and identify associated clusters in ccRCC through clinical bioinformatic analysis and experimental validation. Utilizing a single-cell RNA dataset (GSE159115) and bulk-sequencing data from The Cancer Genome Atlas (TCGA) database, we analyzed the G2M checkpoint pathway in ccRCC. Differential expression analysis identified 45 genes associated with the G2M checkpoint, leading to the construction of a predictive model with four key genes (E2F2, GTSE1, RAD54L, and UBE2C)...
April 15, 2024: Heliyon
#35
JOURNAL ARTICLE
Davide Seminati, Vincenzo L'Imperio, Gabriele Casati, Joranda Ceku, Daniela Pilla, Carla Rossana Scalia, Gianluca Gragnano, Francesco Pepe, Pasquale Pisapia, Luca Sala, Diego Luigi Cortinovis, Francesca Bono, Umberto Malapelle, Giancarlo Troncone, Silvia Novello, Fabio Pagni
BACKGROUND: The molecular diagnostic and therapeutic pathway of Non-Small Cell Lung Cancer (NSCLC) stands as a successful example of precision medicine. The scarcity of material and the increasing number of biomarkers to be tested have prompted the routine application of next-generation-sequencing (NGS) techniques. Despite its undeniable advantages, NGS involves high costs that may impede its broad adoption in laboratories. This study aims to assess the detailed costs linked to the integration of NGS diagnostics in NSCLC to comprehend their financial impact...
April 15, 2024: Heliyon
#36
JOURNAL ARTICLE
Yuce Peng, Mingyu Guo, Minghao Luo, Dingyi Lv, Ke Liao, Suxin Luo, Bingyu Zhang
Dapagliflozin (DAPA) has been demonstrated to reduce cardiovascular mortality and heart failure hospitalization rates in diabetic patients. However, the mechanism underlying its cardio-protective effect in non-diabetic patients remains unclear. Our study aimed to explore the cardio-protective impact of DAPA on myocardial infarction in non-diabetic mice. We induced myocardial infarction in C57BL/6 mice by ligating the descending branch of the left coronary artery. After surgery, the animals were randomly treated with either saline or DAPA...
April 15, 2024: Heliyon
#37
JOURNAL ARTICLE
Xia Zhou, Wuan Bao, Xiang Zhu, Di Wang, Pengfei Zeng, Guojie Xia, Minyan Xing, Yanyan Zhan, Junrong Yan, Minchi Yuan, Qiang Zhao
BACKGROUND: Esophageal cancer (EC) is an aggressive malignant tumor with poor prognosis and high incidence. It is the sixth leading cause of cancer-related death in the world, and the 5-year overall survival (OS) rate is only 12-20%. The rapid development of next-generation sequencing (NGS) has provided powerful help for the treatment and management of EC patients. METHODS: Tumor tissue and blood samples of 43 Chinese patients with nonsurgical esophageal squamous cell carcinoma (ESCC) were sequenced using a 425 gene-panel...
March 29, 2024: Journal of Thoracic Disease
#38
JOURNAL ARTICLE
Victoria Verejan
Aim: The research aimed to establish reference values of visual evoked potentials among school-aged children after brain injury. Methods: Eighteen patients with persisting visual symptoms after brain injury have been examined. A pattern-VEP test has been used during the examination. Results: The prolongation of the N2 wave in 55,6%-66,6%, P wave in 55,7%-66,7%, and N3 wave in 16,7%-22,2% was determined in the research group. Likewise, the decrease in the amplitude of the P wave was determined in the case of 16,7%-33,3%...
2024: Romanian Journal of Ophthalmology
#39
JOURNAL ARTICLE
Ruixia Lu, Wenyong Lin, Qipeng Jin, Dongyuan Wang, Chunling Zhang, Huiying Wang, Tiejun Chen, Junjie Gao, Xiaolong Wang
Coronary heart disease remains a major global health challenge, with a clear need for enhanced early risk assessment. This study aimed to elucidate metabolic signatures across various stages of coronary heart disease and develop an effective multiclass diagnostic model. Using metabolomic approaches, gas chromatography-mass and liquid chromatography-tandem mass spectrometry were used to analyze plasma samples from healthy controls, patients with stable angina pectoris, and those with acute myocardial infarction...
April 9, 2024: ACS Omega
#40
JOURNAL ARTICLE
Maria P Mogavero, Michele Salemi, Giuseppe Lanza, Antonio Rinaldi, Giovanna Marchese, Maria Ravo, Maria Grazia Salluzzo, Amedeo Antoci, Lourdes M DelRosso, Oliviero Bruni, Luigi Ferini-Strambi, Raffaele Ferri
The aim of this study was to analyze signaling pathways associated with differentially expressed messenger RNAs in people with restless legs syndrome (RLS). Seventeen RLS patients and 18 controls were enrolled. Coding RNA expression profiling of 12,857 gene transcripts by next-generation sequencing was performed. Enrichment analysis by pathfindR tool was carried-out, with p-adjusted ≤0.001 and fold-change ≥2.5. Nine main different network groups were significantly dysregulated in RLS: infections, inflammation, immunology, neurodegeneration, cancer, neurotransmission and biological, blood and metabolic mechanisms...
April 19, 2024: IScience
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