A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

“…These results led to over 5000 additional studies including carrier, prenatal and preimplantational tests or pharmacological and gene therapy treatments. Conclusion This strategy has shown promising improvements in the diagnostic rate, facilitating timely diagnosis and gradually expanding our services portfolio for rare diseases. …”
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TLR7: A Key Prognostic Biomarker and Immunotherapeutic Target in Lung Adenocarcinoma by Feiming Hu, Chenchen Hu, Yuanli He, Yuanjie Sun, Chenying Han, Xiyang Zhang, Lingying Yu, Daimei Shi, Yubo Sun, Junqi Zhang, Dongbo Jiang, Shuya Yang, Kun Yang

“…Importantly, patients with high TLR7 expression were more likely to benefit from anti-PD-1 checkpoint blockade therapy. We also identified four treatment candidates for patients with high TLR7 expression. …”
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Expression of Wnt signaling proteins LEF1, β-catenin, GSK3β, DVL1, and N-myc varies across retinoblastoma subtypes and pRb phosphorylation status by Leon Marković, Anja Bukovac, Ana Maria Varošanec, Antonia Jakovčević, Davor Tomas, Zdenko Sonicki, Borna Puljko, Fran Dumančić, Reno Hrašćan, Nives Pećina-Šlaus

“…Our study aimed to analyze the expression levels of key Wnt pathway proteins, GSK3β, LEF1, β-catenin, and DVL1, and associate them to non-phosphorylated active form (pRb) and the phosphorylated inactive form (ppRb) and N-myc expression, in retinoblastoma cells and healthy retinal cells, in order to elucidate their roles in retinoblastoma and identify potential targets that could help to improve diagnostic and therapy. Specimens from 22 retinoblastoma cases (unilateral, bilateral, and trilateral) were analyzed. …”
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Doxycycline and Benznidazole Reduce the Profile of Th1, Th2, and Th17 Chemokines and Chemokine Receptors in Cardiac Tissue from Chronic Trypanosoma cruzi-Infected Dogs by Guilherme de Paula Costa, Laís Roquete Lopes, Maria Cláudia da Silva, Aline Luciano Horta, Washington Martins Pontes, Cristiane M. Milanezi, Paulo Marcos da Mata Guedes, Wanderson Geraldo de Lima, Richard Schulz, João Santana da Silva, Andre Talvani

“…Our data reveal an immune modulatory effect of Dox with Bz, during the chronic phase of infection suggesting a promising therapy for cardiac protection.…”
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Jack Surgery: Reconstructing Collapsed Femoral Head in Association Research Circulation Osseous Stage III Osteonecrosis: A Series of 13 Cases by Ying Zhong, Yichen Gong, Shuaijie Lv, Wenxi Du, Xun Liu, Jianhua Zhang, Peijian Tong

“…Severe collapse of the femoral head ( > 2 mm) or receiving total hip arthroplasty (THA) was defined as failure of hip preservation therapy. An Independent sample t‐test was used to compare the data, and the chi‐square test was used for categorical data. …”
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Unanchored simulated treatment comparison on survival outcomes using parametric and Royston-Parmar models with application to lenvatinib plus pembrolizumab in renal cell carcinoma by Christopher G. Fawsitt, Janice Pan, Philip Orishaba, Christopher H. Jackson, Howard Thom

“…Unanchored comparison was necessitated as the control groups differed in their use of PD-1/PD-L1 rescue therapy. Methods We fit covariate-adjusted survival models to individual patient data from phase 3 trial of LEN + PEM, including standard parametric distributions and Royston-Parmar spline models with up to 3 knots. …”
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Terminal complement complex deposition on chondrocytes promotes premature senescence in age- and trauma-related osteoarthritis by Leonie Ruths, Jana Hengge, Graciosa Q. Teixeira, Melanie Haffner-Luntzer, Anita Ignatius, Jana Riegger

“…In human cartilage, trauma and subsequent stimulation with HS increased mRNA levels of CDKN1A, CDKN2A, and IL6, while inhibition of TCC formation by CLU reduced the expression. Antioxidative therapy with NAC had no anti-senescent effect. In porcine tissue, HS exposure and trauma had additive effects on the number of CDKN2A-positive cells, while Sarilumab, STAT-IN-1, and IL-1RA reduced CDKN2A expression by trend.ConclusionOur results demonstrate that complement activation and consequent TCC deposition is associated with chondrosenescence in age-related and trauma-induced OA. …”
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COVID-19 pandemic shifted epidemiology for cancer screening sites: breast, cervix, colon, and rectum by Yevgeniy Ishkinin, Dilyara Kaidarova, Dilyara Kaidarova, Serzhan Nazarbek, Serzhan Nazarbek, Alma Zhylkaidarova, Saniya Ossikbayeva, Kamilla Mussina, Nazgul Omarbayeva

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Targeting unique ligand binding domain structural features downregulates DKK1 in Y537S ESR1 mutant breast cancer cells by K. S. Young, G. R. Hancock, E. C. Fink, A. Zigrossi, B. Flowers, D. A. Cooper, V. T. Nguyen, M. C. Martinez, K. S. Mon, M. Bosland, D. R. Zak, A. P. Runde, M. N. Sharifi, I. Kastrati, D. D. L. Minh, S. Kregel, Sean W. Fanning

“…Abstract Resistance to endocrine therapies remains a major clinical hurdle in breast cancer. …”
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Comparison of Individualized Rescue Luteal Phase Support Strategies with Vaginal and Combined Vaginal & Subcutaneous Progesterone Administration in Artificial Frozen-Thawed Blastoc... by Secil Irem Arik Alpcetin, Onur Ince, Bengisu Akcay, Munire Funda Cevher Akdulum, Erhan Demirdag, Ahmet Erdem, Ahmet Erdem, Mehmet Erdem, Mehmet Erdem

“…ObjectivesHormone replacement therapy (HRT) frozen embryo transfer (FET) cycles are common in assisted reproductive techniques. …”
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Is longer really better? Results of a retrospective real-life cohort study evaluating the benefit of adding a weekly educational session to a traditional 8-week home-based pulmonar... by Cécile Chenivesse, Olivier Le Rouzic, Jean-Marie Grosbois, Sarah Gephine, Sophie Peres

“…A subgroup of participants received one additional supervised home session per week, including education and motivational support for daily physical activities and walking.Outcomes Health-related quality of life, dyspnoea, anxiety and depressive symptoms, fatigue and exercise tolerance were assessed at baseline (M0), at the end of PR (M2), and 14 months (M14) after M0.Results Baseline characteristics and assessments were similar between groups with an exception for long-term oxygen therapy (Gr1: 69.8% vs Gr2 53.0%, p<0.001) and noninvasive ventilation (Gr1: 38.6% vs Gr2: 29.8%, p=0.015). …”
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Feasibility and Preliminary Effects of Acupuncture for Cognitive Dysfunction in Diverse Cancer Survivors: A Pilot, Randomized, Placebo-Controlled Trial by Xiaotong Li, Kaitlin Lampson, Tim A. Ahles, James C. Root, Q. Susan Li, Yuelin Li, Anam Ahsan, Jun J. Mao, Kevin T. Liou

“…Subjective CRCD was assessed by the Functional Assessment of Cancer Therapy-Cognitive Function—Perceived Cognitive Impairment subscale (FACT-Cog PCI) and objective CRCD was assessed by the Hopkins Verbal Learning Test—Revised (HVLT-R). (3) Results: 32 participants (57.1% of eligible patients) were enrolled. …”
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Prevalence of piriformis syndrome and its associated risk factors among university students in Pakistan: a cross-sectional study by Hassan N Moafa, Nusrat Batool, Naila Azam, Azka Hafeez, Humaira Mehmood, Nimbal Imtiaz, Waqas A Shehzad, Asaad Saleem Malik, Ajiad Alhazmi, Manal Almalki, Almutasim B Moafa, Jobran M Moshi

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Optic nerve sheath diameter in chronic myeloproliferative disorders by E.M. Yunusova, T.R. Mukhamadeev, B.A. Bakirov

“…Several patients had a history of cardiovascular diseases, which may be related to long-term use of specific target therapy. All patients underwent a comprehensive eye examination, which included eye and orbit ultrasonography, as well as laboratory tests such as complete blood count (CBC) and coagulation test. …”
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Evaluating the feasibility, sensitivity, and specificity of next-generation molecular methods for pleural infection diagnosis by Peter T. Bell, Timothy Baird, John Goddard, Olusola S. Olagoke, Andrew Burke, Shradha Subedi, Tiana R. Davey, James Anderson, Derek S. Sarovich, Erin P. Price

“…However, we encountered challenges that complicated pleural infection interpretation, including: (i) uncertainties regarding microbial pathogenicity and the impact of prior antibiotic therapy on diagnostic performance; (ii) lack of a clinical diagnostic gold-standard for molecular performance comparisons; (iii) potential microbial contamination during specimen collection or processing; and (iv) difficulties distinguishing background microbial noise from true microbial signal in low-biomass specimens. …”
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New strategies in management of severe alcoholic hepatitis by P. Ye. Tkachenko, I. I. Komkova, M. V. Mayevskaya, V. T. Ivashkin

“…Prescription of prednisolone and Adomet combination at severe alcohol-induced hepatitis increases the treatment response rate to corticosteroids, promotes decrease of short-term mortality and results in significantly less frequent development of hepatorenal syndrome as compared to standard therapy.…”
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Effect of Qing'e Formula on OPN, BSP and Integrin ɑ_vβ₃Expression in Bone Tissue of Ovariectomized Rats by Yuqing SUN, Wenjuan LUO, Bingqi WANG, Xiang CHEN, Xiaokang JIA, Yanping LIN

“…Qing'e formula plays a positive role in postmenopausal osteoporosis prevention and therapy.…”
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Preservative-free IOP-lowering medications: potential advantages by I.B. Alekseev, I.A. Koroleva

“…Elimination or minimization of adverse reactions accompanying long-term glaucoma therapy is an important resource to improve treatment compliance and, therefore, to prevent vision loss and to maintain the quality of life. …”
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Development of the inner ear and regeneration of hair cells after hearing impairment by Xin Bing, Chengcheng Liu, Xue Cao, Chengzhilin Li, Xiaochen Gao, Fangyuan Zhu, Xinhao Wu, Na Guo, Houyang Hu, Ming Xia, Miaoqing Zhao

“…In recent years, the protection of drug-related ototoxicity, inner ear stem cells, gene therapy, new materials, and signal regulation have become important ways to develop regeneration strategies of HCs. …”
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Adipose-Derived Stromal Cells Attenuate Adipose Inflammation in Obesity through Adipocyte Browning and Polarization of M2 Macrophages by Wen-Chao Zhang, Feng Qin, Xiao-Jun Wang, Zhi-Fei Liu, Lin Zhu, Ang Zeng, Ming-Zi Zhang, Nan-Ze Yu, Xiao Long

“…Therefore, the adipose-derived stromal cells with induced browning could promote lipid consumption and alternative polarization of M2 macrophages to attenuate adipose inflammation in obesity mouse models, which thus provides a potential therapy for obesity.…”
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