Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum by Meghan Amson, Esther Lamoureux, Nir Hilzenrat, Marc Tischkowitz

“…Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. …”
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Adaptive distributed cloud edge collaborative load control strategy for load management by LI Siwei, JIN Li, YU Long, DU Lishi, YUE Liang, ZHANG Xirun

“…Finally, the computational resource allocation was solved by genetic algorithm based on adaptive cross-mutation probability. Finally, the calculation of resource allocation was solved using a genetic algorithm based on adaptive crossover mutation probability. …”
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Urbanisation et viabilité de l'activité maraîchère : cas d'une ville à statut particulier au Bénin (Parakou) by Guy Nouatin, François-Xavier Bachabi

“…The cities of developing countries are in complete mutation. This mutation is characterized by an increase of their population and urbanization. …”
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The concentration of calprotectin in the stools of children with diagnosed cystic fibrosis by Sabina Więcek, Halina Woś, Bożena Kordys-Darmolińska, Magda Sankiewicz-Szkółka, Urszula Grzybowska-Chlebowczyk

“…The analysis included clinical symptoms and the results of laboratory tests and the type of mutation. Results : An elevated level of calprotectin in the stool was observed in 4/41 (9.7%) patients, mainly in older children, and mainly delta F508/deltaF508 mutation. …”
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Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy by Hilde Fiskvik, Anne F. Jacobsen, Nina Iversen, Carola E. Henriksson, Eva-Marie Jacobsen

“…Characterization of the AT mutation may aid in the decision-making process and optimize pregnancy outcomes.…”
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Comparison of the Effect of Various Types of Genetic Algorithm Operators on the Total Amount of Tardiness in Flow Shop Problem by Morteza Rasti Barzoki, Sajjad Raeisi

“…The purpose of this paper is to investigate the effect of crossover and mutation operators of the genetic algorithm on the objective of minimizing total amount of tardiness in permutation FSSP in order to determine more suitable ones to be applied in the problem. …”
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Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant by Muhammad Husnain, Trent Wang, Maikel Valdes, James Hoffman, Lazaros Lekakis

“…ANKRD26 mutation has been previously associated with myeloid malignancies, including acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. …”
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Solmisationssysteme in El cantor instruido von Manuel Cavaza. Ein Fallbeispiel zur Methodenvielfalt im 18. Jahrhundert by Luis Ramos

“…In addition to Guidonian solmization with hexachords and mutations, he presents two methods without mutation as well as a kind of “moveable do” system using key simulation. …”
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Atypical Myocardial Infarction with Apical Thrombus and Systemic Embolism: A Rare Presentation of Likely JAK2 V617F-Positive Myeloproliferative Neoplasm by Muhammed Atere, Rana Al-Zakhari, Jennifer Collins, Francesco Rotatori, Lloyd Muzangwa

“…The prevalence of JAK2 mutation is low in the general population but higher in patients with myeloproliferative neoplasms. …”
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Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature by Nayan Patel Sureja, Liza Rajasekhar

“…A probable diagnosis of AIADK, possibly caused by this mutation was proposed, and patient responded well to colchicine.…”
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Dilated cardiomyopathy and myocarditis: a clinical case by O.V. Onyshchenko, D.V. Riabenko, O.A. Yepanchintseva

“…Further genetic examinations showed that pathological processes in the myocardium are also associated with a pathogenic mutation in the FLNC gene and a mutation in the TNT gene. …”
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The Precompression Processing of LMS Algorithm in Noise Elimination by Pengfei Lin, Chunsheng Lin, Ning Zhang, Xingya wu

“…The improved algorithm can eliminate the influence of input signal mutation on the filter performance. In the numerical simulations, we compare the improved LMS algorithm and NLMS algorithm in the cases of normal input signal and input signal with mutation and the influence of different regulator factors on the noise elimination. …”
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A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency by HUANG Xiaomei, LUO Ying, HE Tingyan, XU Yongbin, XIA Yu, YANG Zhi, ZHU Xiaona, HUANG Yanyan, WENG Ruohang, YANG Jun, WANG Linlin

“…IKBKG is the essential modulator for nuclear factor-κB(NF-κB) signaling pathway, and mutations within this gene can lead to anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID). …”
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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

“…WES revealed a filamin C mutation (p.Glu309Valfs × 11). The mutation status of the patient and her father was heterozygous, whereas the mutation was not detected in the mother. …”
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Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report by Liu H, Huang C, Du Y, Liu J, Ren X, Wang H, Ye J, Zhou H, Duan Z

“…The most common TTR mutation is c.148G>A (p.Val50Met), although the FAP resulting from the mutation rarely involves the spinal cord.Patient Concerns: A 68-year-old man was diagnosed with the TTR c.148G>A (p.Val50Met) mutation by ultrasound, pathological, and genetic analyses. …”
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Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors by Alejandro Terrones-Lozano, Alan Hernández-Hernández, Edgar Nathal Vera, Gerardo Yoshiaki Guinto-Nishimura, Jorge Luis Balderrama-Bañares, Claudia Ramírez-Rentería, Judith de la Serna-Soto, Alfredo Adolfo Reza-Albarran, Lesly Portocarrero-Ortiz

“…Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. …”
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Molecular dynamics simulation of wild and mutant proteasome subunit beta type 8 (PSMB8) protein: Implications for restoration of inflammation in experimental autoimmune encephalomy... by Shamrat Kumar Paul, Md Saddam, Nisat Tabassum, Mahbub Hasan

“…The energy analysis ensures the structural deviation due to point mutation. The trajectory of the fundamental simulation (RMSD, RMSF, and Rg) describes that the G210V mutated protein is more flexible and less stable than the wild type. …”
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Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis by Shiyue Ma, Lingjian Tang, Chaoli Wu, Hui Tang, Xue Pu, Jinhong Niu

“…The family members of the respective patients presented mutations in major genes causing HS. The Leu2032Pro mutation identified in patient III-1 is a new missense mutation of the SPTB gene in the Chinese population that has never been reported in literature previously. …”
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Targeting mutant p53: Evaluation of novel anti-p53R175H monoclonal antibodies as diagnostic tools by Diana Spiegelberg, Le-Ann Hwang, Khian Hong Pua, Sashwini Chandra Kumar, Xin Yu Koh, Xiao Hui Koh, Ram Kumar Selvaraju, Kanaga Sabapathy, Marika Nestor, David Lane

“…The p53 missense mutation p53R175H (p53R172H in mice) is a hotspot mutation in various cancer types. …”
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Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy by Helena Escobar, Silvia Di Francescantonio, Julia Smirnova, Robin Graf, Stefanie Müthel, Andreas Marg, Alexej Zhogov, Supriya Krishna, Eric Metzler, Mina Petkova, Oliver Daumke, Ralf Kühn, Simone Spuler

“…We targeted a frequent loss-of-function, DYSF exon 44, founder frameshift mutation with mRNA-mediated delivery of SpCas9 in combination with a mutation-specific sgRNA to primary muscle stem cells from two homozygous patients. …”
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