An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy by Danny A. J. P. van de Sande, Jan Hoogsteen, Luc J. H. J. Theunissen

“…These myocardial crypts are rarely found in the so-called genotype positive and phenotype positive patients, as in our case. Also the crypts in this case are deeper and wider than those reported in other cases. …”
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Feasibility of Using H3PO4/H2O2 in the Synthesis of Antimicrobial TiO2 Nanoporous Surfaces by Benjamín Valdez-Salas, Ernesto Beltrán-Partida

“…Moreover, the antimicrobial activity revealed that NP7 could disrupt active microbial colonization for 2 h and 6 h. The phenotype configuration strikingly showed that NP7 does not alter the cell morphology, thus proposing a disruptive adhesion pathway instead of cellular lysis. …”
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Intravascular Large B-Cell Lymphoma Mimicking Temporal Arteritis by Ifeyinwa Emmanuela Obiorah, Metin Ozdemirli

“…Immunohistochemical staining showed that the lymphoma cells were positive for CD20, indicating B-cell phenotype. This case supports the “mimicking nature” of this rare entity with an unusual presentation with proptosis and visual loss, simulating temporal arteritis and a rare involvement of the retroperitoneal lymph nodes. …”
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Rosacea-like skin reaction under treatment with dupilumab for atopic dermatitis by C. Grote, F. Zirkenbach, J. N. Wagner, M. Augustin

“…Lebrikizumab was introduced, leading to significant regression of the lesions.Conclusions This case highlights a rare paradoxical skin reaction to dupilumab, potentially linked to the blockade of IL-4Rα, which may shift the immune response towards a Th1/Th17 phenotype. The findings suggest that alternative therapies, such as IL-13 inhibitors, should be considered when cutaneous side effects arise during dupilumab treatment.…”
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Hyaluronan Regulates Cell Behavior: A Potential Niche Matrix for Stem Cells by Mairim Alexandra Solis, Ying-Hui Chen, Tzyy Yue Wong, Vanessa Zaiatz Bittencourt, Yen-Cheng Lin, Lynn L. H. Huang

“…However, at high concentrations, stem cells acquire a dormant state and induce a multidrug resistance phenotype. Due to the influence of hyaluronan on cells and tissue morphogenesis, with regards to cardiogenesis, chondrogenesis, osteogenesis, and neurogenesis, it is now been utilized as a biomaterial for tissue regeneration. …”
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The Influence of Treated and Untreated Subclinical Hypothyroidism on Metabolic Profile in Women with Polycystic Ovary Syndrome by Karolina Kowalczyk, Patrycja Radosz, Kamil Barański, Dagmara Pluta, Dariusz Kowalczyk, Grzegorz Franik, Paweł Madej

“…Methods. 190 women with PCOS phenotype A were enrolled in the case-control study. …”
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Acute Lymphoblastic Leukemia Arising in CALR Mutated Essential Thrombocythemia by Stephen E. Langabeer, Karl Haslam, David O’Brien, Johanna Kelly, Claire Andrews, Ciara Ryan, Richard Flavin, Patrick J. Hayden, Christopher L. Bacon

“…Mutations of CALR in essential thrombocythemia appear to be associated with a distinct phenotype and a lower risk of thrombosis yet their impact on disease progression is less well defined. …”
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Dynamics of Positive Frequency Dependent Selection Triggers Selection for Silence by I. Hashem, V. De Buck, J. Van Impe

“…Positive frequency dependent selection is a natural selection regime where the fitness of a phenotype increases with its frequency in the population. …”
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Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion by Mireille Crampe, Laura Kearney, David O’Brien, C. Larry Bacon, Derville O’Shea, Stephen E. Langabeer

“…Whether patients expressing these rare, variant BCR-ABL1 transcripts have a distinct phenotype or response to therapy is not known due to the limited number of reported cases. …”
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The Contribution of the Cerebellum to Cognition in Spinocerebellar Ataxia Type 6 by Freya E. Cooper, Manon Grube, Kelly J. Elsegood, John L. Welch, Thomas P. Kelly, Patrick F. Chinnery, Timothy D. Griffiths

“…This study sought evidence for a specific cerebellar contribution to cognition by characterising the cognitive phenotype of Spinocerebellar Ataxia Type 6 (SCA-6); an autosomal dominant genetic disease which causes a highly specific late-onset cerebellar degeneration. …”
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Urinary Catheter Colonization by Multidrug-Resistant Cedecea neteri in Patient with Benign Prostatic Hyperplasia by Peter S. Ginn, Serina B. Tart, Stephen M. Sharkady, Dorothea K. Thompson

“…Analysis of whole genome sequence information for a representative C. neteri strain indicated the presence of multiple open reading frames with sequence similarity to β-lactamases, including a chromosome-encoded AmpC β-lactamase and metallo-β-lactamases, consistent with the resistance phenotype of this bacterium. The presence of an AmpR homolog suggests that the C. neteriampC may be inducible in response to β-lactam exposure. …”
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Rapid Identification of Drug-Resistant Tuberculosis Genes Using Direct PCR Amplification and Oxford Nanopore Technology Sequencing by Kaishun Zhao, Chunlin Tu, Wei Chen, Haiying Liang, Wenjing Zhang, Yilei Wang, Ye Jin, Jianrong Hu, Yameng Sun, Jun Xu, Yanfang Yu

“…Turnaround time for the nanopore sequencing workflow was approximately 12 h, facilitating drug resistance prediction several weeks earlier than that of traditional phenotype drug susceptibility testing. This study produced a customized gene panel assay for rapid bacterial identification via nanopore sequencing, which improves the timeliness of tuberculosis diagnoses and provides a reliable method that may have clinical application.…”
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An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly by J. Carter, H. Brittain, D. Morrogh, N. Lench, J. J. Waters

“…Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. …”
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Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion by Allison Tam, Kit Shan Lee, Sansan Lee, William Burkhalter, Lucio U. Pascua, Thomas P. Slavin

“…The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. …”
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Physiologically-based pharmacokinetic modeling of enantioselective hydroxychloroquine kinetics and impact of genetic polymorphisms by Gabriella de Souza Gomes Ribeiro, Leandro Francisco Pippa, Fernanda de Lima Moreira, Natália Valadares de Moraes

“…Simulations covered CYP2D6 normal metabolizer (NM), poor metabolizer (PM), and ultra-rapid metabolizer (UM) phenotypes, as well as CYP2C8 NM and PM phenotypes. …”
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Identification of Viral Taxon-Specific Genes (VTSG): Application to by Shinduck Kang, Young-Chang Kim

“…Virus taxonomy was initially determined by clinical experiments based on phenotype. However, with the development of sequence analysis methods, genotype-based classification was also applied. …”
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Impaired Inflammatory Response to LPS in Type 2 Diabetes Mellitus by Lusine Khondkaryan, Sona Margaryan, David Poghosyan, Gayane Manukyan

“…Furthermore, LPS-induced IL-10 levels were similar in diabetic and healthy supernatants, while expression levels of CD163 were found to be downregulated on monocytes from T2DM (p<0.001) suggesting impaired ability of monocytes to switch their phenotype to anti-inflammatory. Taken together, our results suggest compromised function of monocytes in T2DM, which may explain, at least partly, high incidence of infection in these patients.…”
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Subclinical systolic dysfunction in children with steroid-resistant nephrotic syndrome identified by speckle tracking echocardiography by Mohamed Hashem Mahgoob, Amr Mostafa Setouhi

“…Abstract Background Steroid resistant nephrotic syndrome (SRNS) is a clinical phenotype of nephrotic syndrome (NS) that does not respond to steroid therapy and usually results in kidney failure. …”
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Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability by Baoqiong Liao, Baoqiong Liao, Wuming Xie, Shuwen He

“…Mutations in ASH1L have been associated with a range of phenotypes, including intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), seizures, as well as differences in skeletal, muscular, and sleep functions. …”
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Isoferulic acid facilitates effective clearance of hypervirulent Klebsiella pneumoniae through targeting capsule. by Tingting Wang, Huaizhi Yang, Qiushuang Sheng, Ying Ding, Jian Zhang, Feng Chen, Jianfeng Wang, Lei Song, Xuming Deng

“…In this way, IFA remarkably reduced capsule thickness and impaired hypercapsule-associated hypermucoviscosity phenotype (HMV), thereby significantly sensitizing hvKP to complement-mediated bacterial killing and accelerating host cell adhesion and phagocytosis. …”
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