Molecular Genetic Analysis of a DMD Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing by Chen Q, Zhang W, Zha L

“…DNA from each participant was isolated from peripheral blood samples. We used MLPA to detect the deletion or duplication mutations of the DMD gene and Sanger sequencing to verify the missing region of the exon in the proband. …”
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HCV genotype profile in Brazil of mono-infected and HIV co-infected individuals: A survey representative of an entire country. by Mariana Fernanda Rodrigues Nutini, James Hunter, Leila Giron, Ana Flavia Nacif Pinto Coelho Pires, Igor Massaki Kohiyama, Michelle Camargo, Maria Cecilia Araripe Sucupira, Adele Schwartz Benzaken, Paulo Abrão Ferreira, Hong-Ha M Truong, Ricardo Sobhie Diaz

“…<h4>Conclusion</h4>The increasing prevalence of G3, as inferred by the younger ages of the HCV-infected individuals, poses an extra challenge with regards to disease progression. Distinct genotypical profiles between HCV mono-infection and HCV/HIV co-infection warrant future research in order to better understand and help mitigate HCV chains of transmission.…”
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Inflammatory response of cultured macrophages in treatment-naive patients with systemic sclerosis by E. V. Gerasimova, A. I. Bogatyreva, T. V. Kirichenko, T. V. Popkova, R. U. Shayakhmetova, L. P. Ananyeva, Yu. V. Markina, A. M. Markin, A. N. Orekhov

“…Impaired resistance of the immune tolerance of macrophages to CCL2 was detected in 50% of treatment-naive SSc patients.Conclusions. …”
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A prospective study of cognitive impairment in Parkinson’s disease: clinical, neuropsychological, and neuroimaging correlates by Ahmed A. Gaballa, Nabil H. Elagouz, Ahmed E. Sarhan, Ahmed El-adawy

“…Aim: Parkinson’s disease (PD) is a progressive neurodegenerative disorder marked by dopaminergic neuron loss, leading to motor and non-motor symptoms. …”
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Closing the clinical-imaging gap in adhesive capsulitis? Cutoff values of quantitative shoulder ultrasonography for diagnosis of equivocal cases by Mohammad Fouad Abdelbaki Allam, Ahmad Fouad Abdelbaki Allam, Sara Mahmoud Ragaee, Mohamed Sayed Khamies, Ahmed Hamed Ismail, Mohamed Aboul-fotouh Elsayed Mourad

“…Abstract Background Adhesive capsulitis (AC) is an arthro-inflammatory condition characterized by painful progressive reduction of shoulder movements. Due to the increasing demand for an accurate imaging tool for positive contribution in AC diagnosis notably in early cases, the aim of this study was to assess the usefulness of quantitative dynamic and static sonography of the shoulder in identification of adhesive capsulitis and in providing proper cutoff values to close the clinical-imaging gap in the diagnosis and increase the sonographic accuracy notably in borderline and equivocal cases. …”
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Notch2/3-DLL4 interaction in urothelial cancer cell lines supports a tumorigenic role of Notch signaling pathways in bladder carcinoma. by Chuan Zhang, Annett Weimann, Jens-Uwe Stolzenburg, Jochen Neuhaus, Mandy Berndt-Paetz

“…Endogeneous interactions between Notch2/3 and DLL4 were detected in all BCa cell lines. Amounts of Notch2/3-DLL4 complexes were high in RT-112 and CAL-29, while RT-4/647-V showed moderate and T-24, KU-19-19 low abundance. …”
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Genotypic and functional impact of HIV-1 adaptation to its host population during the North American epidemic. by Laura A Cotton, Xiaomei T Kuang, Anh Q Le, Jonathan M Carlson, Benjamin Chan, Denis R Chopera, Chanson J Brumme, Tristan J Markle, Eric Martin, Aniqa Shahid, Gursev Anmole, Philip Mwimanzi, Pauline Nassab, Kali A Penney, Manal A Rahman, M-J Milloy, Martin T Schechter, Martin Markowitz, Mary Carrington, Bruce D Walker, Theresa Wagner, Susan Buchbinder, Jonathan Fuchs, Beryl Koblin, Kenneth H Mayer, P Richard Harrigan, Mark A Brockman, Art F Y Poon, Zabrina L Brumme

“…Furthermore, HLA-associated polymorphisms identified in historic HIV sequences were consistent with those detectable today, with none identified that could explain the few HIV codons where the inferred epidemic ancestor differed from the modern consensus. …”
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Outcome of Normal‐Flow Low‐Gradient Severe Aortic Stenosis With Preserved Left Ventricular Ejection Fraction: A Propensity‐Matched Study by Gagandeep Chadha, Yohann Bohbot, Dan Rusinaru, Sylvestre Maréchaux, Christophe Tribouilloy

“…Rigorous echocardiographic assessment to rule out measurement errors and close follow‐up are essential to detect progression to true severe AS in NF‐LG‐SAS.…”
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Use of liver steatosis and fibrosis indices in overweight and obese patients with or without carbohydrate metabolism disorders by N. N. Musina, D. A. Petrukhina, Y. S. Slavkina, O. V. Rodionova, D. E. Alibiev, S. V. Fomina, A. P. Zima, T. V. Saprina

“…BACKGROUND: Currently, much attention is paid to the search for highly informative and non-invasive methods for screening the progression of non-alcoholic fatty liver disease (NAFLD) through the stages of «steatohepatosis-steatohepatitis-fibrosis». …”
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Expression of ApoE and Spp1 in the cochlea and auditory cortex of age-related hearing loss mice by Yingxue Yuan, Junhong Zhang, Jingyi Zhao, Xiru Zhang, Zhixin Cao

“…The expression of two selected proteins, ApoE and Spp1, in the cochlea was detected using qRT-PCR, Western blot, and immunofluorescence techniques, and their expression in the auditory cortex of the brain was further explored. …”
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The effect of vitamin D therapy on inflammatory markers in patients with type 2 diabetes mellitus and diabetic peripheral polyneuropathy by Anna P. Stepanova, Tatiana L. Karonova

“…Study results showed that the normalization of serum 25(OH)D level can be one of the modifying factors for the development and progression of DPN in patients with T2DM.…”
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CGREF1 modulates osteosarcoma proliferation by regulating the cell cycle through the Wnt/β-catenin signaling pathway by Zicheng Wei, Kezhou Xia, Wenda Liu, Xinghan Huang, Zhun Wei, Weichun Guo

“…Knockdown of CGREF1 impeded cell cycle progression and suppressed the proliferation of osteosarcoma cells. …”
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Temporal dynamics and clinical correlates of ischemic J waves in the early phase of acute myocardial infarction by Huanhuan Hu, Lu Huang, Dewen Zhu, Mingwei Wang, Deye Yang, Hongyu Wang, Lina Chen

“…Abstract Objectives This study aims to explore the temporal relationship between ischemic J waves and the progression of chest discomfort in patients experiencing acute myocardial infarction (AMI) during its earliest phase. …”
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Chronic hepatitis B in children carried out of the hemochromatosis gene HFE by F. I. Inoyatova, Kh. M. Kadyrkhodzhayeva, G. Z. Inogamova, N. A. Ikramova, F. G. Abdullayeva, N. K. Valiyeva, A. Kh. Akhmedova

“…Using PCR Real Time and molecular genetic analysis, HFE gene C282Y, H63D, S65C mutations were detected from amplified DNA using the PRONTO Hemochromatosis reagent kit (Israel). …”
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Renal abscessation in dromedary camels: Clinical, ultrasonographic, hematobiochemical, and etiological investigations by Mohamed Tharwat, Hazem M. M. Elmoghazy, Elhassan M. A. Saeed, Abdulrahman A. Alkheraif

“…Results: The signs of diseased camels included general gradual and/or progressive weakness, inappetence or anorexia, passage of dry feces, dysuria, bloody feces, lameness, bloody urine, and abdominal pain. …”
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Analysis of Clinicopathological Characteristics and Treatment Modalities in Multisystem Inflammatory Syndrome in Children: An Eastern Indian Cohort by Purbasha Gupta, Subhojit D Sarkar, Mohini Bhelo, Anurag Mondal, Priyankar Pal

“…Cardiac affection was detected in 57.74%, mostly as myocarditis, and 27% had coronary artery dilatations (CAAs). …”
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High expression of C-X-C chemokine receptor 4 and Notch1 is predictive of lymphovascular invasion and poor prognosis in lung adenocarcinoma by Zhuangzhuang Cong, Haiwei Wu, Zhong Guo, Tao Qin, Yang Xu, Hua Jing, Yanqing Wang, Yi Shen

“…Expression of C-X-C chemokine receptor 4 and Notch1 was detected in resected tumor samples from 185 patients with lung adenocarcinoma at stage I–IIIa by immunohistochemistry. …”
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MicroRNA expression and GPX-1 genetic polymorphisms in patients undergoing hemodialysis: Implications for oxidative stress in a cross-sectional study by Hetaf Shallal, Nagam Khudhair, Maryam I. Salman

“…GPX-1 rs1050450 polymorphism was detected via conventional PCR and sequencing. Oxidative stress biomarkers, malondialdehyde (MDA), and 8-hydroxy-deoxyguanosine (8-OHDG) were measured using ELISA. …”
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Clinical application of metagenomic next-generation sequencing in rapid diagnosis and prognostic assessment of herpes simplex encephalitis by Jin Tang, Ping Li, Haoming Xu, Jingzhe Han

“…At the three-month follow-up, 32.1% had GOS scores &lt;5.ConclusionHSE often presents with nonspecific signs of encephalitis, and it’s not easy for traditional CNS examinations to confirm the diagnosis. mNGS serves as a cutting-edge diagnostic tool for the rapid and precise identification of HSE, facilitating timely clinical diagnosis and intervention to prevent the progression of the disease.…”
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Clinical and immunological features of the atopic dermatitis in children by E. B. Belan, M. A. Chueva, T. L. Sadchicova

“…The development of AR in children with AD is considered as progression of natural history of allergy. In our study it was associated with higher level of IgE, IL- 4 and sIL- 2R. …”
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