Genetic counselling in the era of next generation sequencing by Diego Espada-Musitu, África Manero-Azua, Yerai Vado, Guiomar Perez de Nanclares

“…The ethical implications of parents giving consent to genetic testing in their offspring and the potential disclosure of genetic diseases for which there are limited therapeutic options are still under debate. In this review, we provide an overview of all these aspects, including the advantages and limitations of current NGS techniques, and discuss the possibilities of upcoming solutions. …”
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The impact of an educational intervention on undergraduate students’ knowledge, acceptability, and willingness to pay for dapivirine vaginal ring in Nigeria's first indigenous univ... by Abdulmuminu Isah, Gabriel Ezenri, Ogechi Obi, Nnamdi A. Okibe, Hadiza Usman Ma’aji, Ezinwanne J. Ugochukwu, Cynthia C. Eze, Chisom M. Amoke, Augustus Ezeodimegwu, Charles C. Idabor, Mustapha Muhammed Abubakar, Francis Iloabuchi, Ikenna John Ugwu, Chukwuebuka M. Asogwa, Chinwe V. Ukwe, Blessing Onyinye Ukoha-kalu

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Diagnostic criteria for asthenic accommodative asthenopia in patients with computer vision syndrome by I.G. Ovechkin, I.S. Gadzhiev, Kozhukhov A.A, E.I. Belikova

“…These criteria can be recommended to assess the efficacy of preventive and therapeutic measures.</i> </p> <p> <i><b>Keywords</b>: asthenopia, computer vision syndrome, accommodation, objective accommodography.…”
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Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

“…Conclusions we provide the proof-of-concept for the use of modified GAA-tailored U1 snRNAs, designed to potentiate the recognition of the GAA exon 2 5’ss, as therapeutic tools to correct the aberrant transcripts carrying variants that affect exon 2 splicing, including the common c.-32-13T>G variant.…”
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Exosome miR-199a-5p modulated vascular remodeling and inflammatory infiltration of Takayasu’s arteritis by Shuning Guo, Jiehan Li, Shurui Pang, Jing Li, Xinping Tian

“…The decreased secretion of MMP2 may potentially prompt the intimal infiltration of inflammatory cells within the vascular wall, offering a novel therapeutic opportunity by tackling both inflammatory responses and the neointimal overgrowth associated with TAK arterial damage. …”
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The Croton genera (Euphorbiaceae) and its richness in chemical constituents with potential range of applications by Carlos Andrés Coy-Barrera, Laura Galvis, Maria Juliana Rueda, Sergio Alejandro Torres-Cortés

“…An important aspect to consider is that the present review of herbal medicines provides an alternative for developing new therapeutic objectives supported by preclinical studies and promotes new treatment options against the diseases that affect us in the current situation. …”
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Identification of the clinical and genetic characteristics of gliomas with gene fusions by integrated genomic and transcriptomic analysis by Guo-zhong Yi, Hua-yang Zhang, Tian-shi Que, Shan-qiang Qu, Zhi-yong Li, Song-tao Qi, Wen-yan Feng, Guang-long Huang

“…Abstract The identification of oncogenic gene fusions in diffuse gliomas may serve as potential therapeutic targets and prognostic indicators, representing a novel strategy for treating gliomas consistent with the principles of personalized medicine. …”
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Efficacy and Safety of Low-Dose Lenvatinib and Toripalimab in Patients With Recurrent Platinum-Resistant Ovarian Cancer: Study Protocol of a Multicenter, Open-Label, Single-Arm, Ph... by Su H, Shang X, Liu H, Wang Y, Yu Y, Xu Y, Jiang K, Feng F

“…Hao Su,1,&ast; Xiao Shang,1,&ast; Hongruo Liu,2 Yutong Wang,1 Yang Yu,3 Yanhua Xu,4 Kui Jiang,2,&ast; Fengzhi Feng1,&ast; 1Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, People’s Republic of China; 2Department of Medical Oncology, The Second Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, People’s Republic of China; 3Department of Obstetrics and Gynecology, Xing’an League People’s Hospital, Xing’an League, Inner Mongolia, People’s Republic of China; 4Department of Obstetrics and Gynecology, Jinan Maternity and Child Health Care Hospital, Jinan, Shandong, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Fengzhi Feng, Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuai Fu Yuan, Dong Cheng District, Beijing, 100730, People’s Republic of China, Email fengfz1969@sina.com Kui Jiang, Department of Medical Oncology, The Second Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, 116023, People’s Republic of China, Email jk0411@163.comPurpose: Therapeutic options for patients with platinum-resistant ovarian cancer (PROC) remain a major unmet need. …”
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Estradiol-dependent and independent effects of FGF21 in obese female mice by T. V. Jakovleva, A. Yu. Kazantseva, A. D. Dubinina, N. Yu. Balybina, K. O. Baranov, E. N. Makarova, N. M. Bazhan

“…FGF21 administration has potent benef icial effects on obesity and diabetes in humans, cynomolgus monkey, and rodents. The therapeutic effects of FGF21 have been studied mainly in males. …”
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Ethyl Acetate Extract of <i>Cichorium glandulosum</i> Activates the P21/Nrf2/HO-1 Pathway to Alleviate Oxidative Stress in a Mouse Model of Alcoholic Liver Disease by Shuwen Qi, Chunzi Zhang, Junlin Yan, Xiaoyan Ma, Yewei Zhong, Wenhui Hou, Juan Zhang, Tuxia Pang, Xiaoli Ma

“…Its hepatoprotective effects and multi-target mechanisms highlight CGE’s potential as a promising therapeutic candidate for ALD treatment.…”
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Integrated bioinformatics analysis and experimental validation of exosome-related gene signature in steroid-induced osteonecrosis of the femoral head by Renqun Mao, Wen Bi, Mengyue Yang, Lei Qin, Wenqing Li

“…LCP1, PNP, UBE2V1, and ZFP36 might become candidate biomarkers and therapeutic targets because they have an intimate relationship with exosomes. …”
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The fundus changes in pathological myopia by Markosyan G.A., Tarutta E.P, Tarasova N.A., Maksimova M.V.

“…Nevertheless, information about the causes of the development of these lesions is clearly not enough, which makes it difficult to elaborate therapeutic measures to reduce or prevent the development of these complications. …”
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Genetic Insights Into Lipid Traits and Lipid-Modifying Drug Targets in Pregnancy Complications: A Two-Sample Mendelian Randomization Study by Shao H, Xu C, Zhang C, Li L, Wu P, Chen Z, Guan R

“…CETP and LPL could be therapeutic targets for preeclampsia and GDM, respectively. …”
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Myofascial trigger points therapy increases neck mobility and reduces headache pain in migraine patients – pilot study by Maciej Olesiejuk, Małgorzata Chalimoniuk, Tomasz Sacewicz

“…Distinct characteristics and responses among different migraine subtypes highlight the need for tailored therapeutic approaches. Trial registration The study protocol was retrospectively registered on December 2, 2022, as a clinical trial in the international clinical trial database ClinicalTrials.gov (identifier: NCT05646160). …”
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Effect of intravitreal injections on the progression and prognosis of primary open-angle glaucoma by A.B. Movsisyan, N.G. Glazko, A.Yu. Brezhnev, A.V. Kuroyedov

“…Over the last two decades, exponential growth in the rate of IVIs has been seen worldwide. Primary therapeutic modalities include the courses of periodic injections to achieve and maintain the desired effect. …”
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Genetic-epigenetic aspects of infertility in women with long-COVID-19 by O.G. Boichuk, I.S. Golovchak, T.V. Kolomiichenko

“…The genetic and epigenetic conditioning of the success of ART programs in infertility associated with long-term COVID-19 has been revealed, which opens up new diagnostic and therapeutic opportunities for identifying factors predisposing to unsuccessful ART treatment and increasing the effectiveness of such treatment by correcting disorders of folic acid metabolism, hyperhomocysteinemia and the estrogens receptor apparatus. …”
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Novel Clinical Insights into the Pathogenesis of Posttraumatic Elbow Stiffness: An Expression Profile Analysis of Contracted Joint Capsule in Human by Liu N, Dong J, Li L, Xu J, Yang C, Yu Z, Liu F

“…Hub genes including SPP1, IBSP, MMP13, and MYO1A, key microRNAs (has-miR-186-5p, has-miR-515-5p, hsa-miR-590-3p) and TFs (TFDP1 and STAT3) may serve as prognostic and therapeutic targets of posttraumatic elbow stiffness, and provide a new idea for the future research direction of clinical treatment.Keywords: posttraumatic elbow stiffness, capsules, transcriptome sequencing, bioinformatic analysis, key candidate genes…”
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TILTomorrow today: dynamic factors predicting changes in intracranial pressure treatment intensity after traumatic brain injury by Shubhayu Bhattacharyay, Florian D. van Leeuwen, Erta Beqiri, Cecilia A. I. Åkerlund, Lindsay Wilson, Ewout W. Steyerberg, David W. Nelson, Andrew I. R. Maas, David K. Menon, Ari Ercole, the CENTER-TBI investigators and participants

“…Serial protein biomarkers were also important and may serve a useful role in the clinical armamentarium for assessing therapeutic needs. Approximately half of the ordinal variation in day-to-day changes in TIL(Basic) after day two remained unexplained, underscoring the significant contribution of unmeasured factors or clinicians’ personal preferences in ICP treatment. …”
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Effect of rapamycin-eluting stents on in-stent restenosis and early inflammatory response in coronary artery narrowing animal models by Jianbing Zhang, Jingyi Zhu, Baiping Sui, Ying Wang, Bingxue Zhang

“…Rapamycin-coated coronary stents, as an effective treatment for coronary artery stenosis, may achieve further improvement in therapeutic efficacy through optimization of drug dosage and stent design.…”
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Realization of a cascade treatment algorithm for glaucoma in St. Petersburg by A.V. Antonova, V.P. Nikolaenko, V.V. Brzheskiy

“…It gives the impression that the efficacy of therapeutic and laser stages of cascade glaucoma treatment is no more than five years. …”
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