Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report by Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot

Get full text

Understanding and reducing delayed dental care for early childhood caries: a structural equation model approach by Mengmeng Wang, Yu Zhang, Xiaofei Li, Xin Liu

“…Multi-factor analysis revealed key factors affecting treatment delay, including permanent residence, medical insurance type, oral health habits, reasons for visit, first symptoms, the time of first discovery of oral problems, brushing teeth before bedtime every day, a genetic history of dental caries and the staging of dental caries. …”
Get full text

Transcriptomic analysis of Rhipicephalus microplus hemocytes from female ticks infected with Babesia bovis or Babesia bigemina by Rubikah Vimonish, Janaina Capelli-Peixoto, Wendell Johnson, Lowell Kappmeyer, Perot Saelao, Naomi Taus, Chungwon Chung, Massaro Ueti

Get full text

Carbapenem-resistant Enterobacterales (CRE) colonisation as a predictor for subsequent CRE infection: A retrospective surveillance study by Courtney M. Tubb, Marco Tubb, Jonathan Hooijer, Rispah Chomba, Jeremy Nel

“…Contribution: This study reports higher CRE colonization rates in South Africa than previously documented, highlighting the urgent need to reduce colonization. The close genetic link between CRE colonization and subsequent infection suggests that knowledge of prior colonization can guide clinicians in selecting effective antibiotics, particularly for infections occurring within 30 days. …”
Get full text

Efficacy and safety of everolimus for patients with focal cortical dysplasia type 2 by Se Hee Kim, Hoon‐Chul Kang, Yun Ho Roh, Jongsung Hahn, Kyung Lok Min, Seok‐Jin Lee, Donghwa Yang, Han Som Choi, Soyoung Park, Jeong Ho Lee, Sang‐Guk Lee, Se Hoon Kim, Min Jung Chang, Heung Dong Kim

“…Three patients with a pathogenic variant in the MTOR gene or no genetic abnormalities achieved seizure freedom with everolimus in the last month of the core phase, while none of the patients with variants in other genes did. …”
Get full text

Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…This study aimed to clarify the clinical, genetic, and pathological features of CCMs using a multicenter cohort across three Chinese centers. …”
Get full text

Comparative analysis of chloroplast genomes reveals molecular evolution and phylogenetic relationships within the Papilionoideae of Fabaceae by Qian Qin, Yanjing Dong, Jialong Chen, Bo Wang, Yuxin Peng, XinPeng Zhang, Xiaoyun Wang, Jinxiang Zeng, Guoyue Zhong, Shouwen Zhang, Xiaolang Du

“….), and Caragana (Car.) are grouped within the Inverted Repeat-Lacking Clade (IRLC). Genetic characteristic analysis revealed a plentiful presence of SSR loci, with single-nucleotide repeats and dinucleotide (A/T) repeats being the most predominant. …”
Get full text

EGCG improve meat quality, restore lipid metabolism disorder and regulate intestinal flora in high-fat fed broilers by Lujia Gao, Chen Liu, Jiaqi Wu, Ying Cui, Man Zhang, Chongpeng Bi, Anshan Shan, Xiujing Dou

“…The results showed that EGCG increased lightness (L*) 24 h (P < 0.05), and decreased drip loss (P < 0.05) of chicken meat; Enhanced the presence of non-essential and flavor amino acids in muscle tissue and greatly enhanced the antioxidant capacity of broilers, leading to a noteworthy upregulation of antioxidant genes at the genetic level (P < 0.05); Reduced in blood lipids, blood glucose, liver and abdominal fat accumulation in high-fat diet-induced obese chickens (P < 0.05), markedly improved serum and liver biochemical parameters, and histological analysis results also demonstrated that EGCG markedly decreased hepatic lipid accumulation caused by HFD feeding. …”
Get full text

Using multiomic integration to improve blood biomarkers of major depressive disorder: a case-control studyResearch in context by Amazigh Mokhtari, El Chérif Ibrahim, Arnaud Gloaguen, Claire-Cécile Barrot, David Cohen, Margot Derouin, Hortense Vachon, Guillaume Charbonnier, Béatrice Loriod, Charles Decraene, Ipek Yalcin, Cynthia Marie-Claire, Bruno Etain, Raoul Belzeaux, Andrée Delahaye-Duriez, Pierre-Eric Lutz

“…Over the last few years, identifying molecular biomarkers of MDD has proven challenging, reflecting interactions among multiple environmental and genetic factors. Recently, epigenetic processes have been proposed as mediators of such interactions, with the potential for biomarker development. …”
Get full text

Liver transcriptome analysis reveals PSC-attributed gene set associated with fibrosis progression by Alena Laschtowitz, Eric L. Lindberg, Anna-Maria Liebhoff, Laura Anne Liebig, Christian Casar, Silja Steinmann, Adrien Guillot, Jun Xu, Dorothee Schwinge, Michael Trauner, Ansgar Wilhelm Lohse, Stefan Bonn, Norbert Hübner, Christoph Schramm

“…Cell type specificity assignment of those genes by using published single-cell RNA-Seq data revealed genetic disease drivers expressed by cholangiocytes (e.g. …”
Get full text

Comparative abundance and diversity of populations of the Pseudomonas syringae and Soft Rot Pectobacteriaceae species complexes throughout the Durance River catchment from its Fren... by Morris, C.E., Lacroix, C., Chandeysson, C., Guilbaud, C., Monteil, C., Piry, S., Rochelle Newall, E., Fiorini, S., Van Gijsegem, F., Barny, M.A., Berge, O.

“…In contrast, Psy populations at all sites were dominated by a genetic lineage of phylogroup 2 known from other studies for its broad host range and its geographic and habitat ubiquity. …”
Get full text

β-synuclein in cerebrospinal fluid as a potential biomarker for distinguishing human prion diseases from Alzheimer’s and Parkinson’s disease by Bing Xu, Kang Xiao, Xiaoxi Jia, Rundong Cao, Donglin Liang, Ruhan A, Weiwei Zhang, Chunjie Li, Liping Gao, Cao Chen, Qi Shi, Xiaoping Dong

“…The diagnostic groups of the 223 patients with PrDs included sporadic Creutzfeldt-Jacob disease (sCJD), genetic CJD (gCJD), fatal familial insomnia (FFI) and Gerstmann-Straussler-Scheinker (GSS). 91 patients with non-PrDs comprised Alzheimer’s disease (AD), Parkinson's disease (PD), viral encephalitis (VE) or autoimmune encephalitis (AE) were enrolled in the control groups. …”
Get full text

Causal role of plasma liposome in diabetic retinopathy: mendelian randomization (MR) study by Kai Yin, Lu Ding, Xueyan Li, Yuqi Zhang, Siyu Song, Liyuan Cao, Ruixue Deng, Min Li, Zirui Li, Qinjing Xia, Daqing Zhao, Xiangyan Li, Zeyu Wang

“…Conclusion In summary, genetic evidence suggests a causal relationship between the levels of specific lipid levels and DR. …”
Get full text

Trisomy 21 screening with αlpha software and the Fetal Medicine Foundation algorithm by L Pistorius, C A Cluver, I Bhorat, L Geerts

“…Data from the three largest laboratories collected between 2010 and 2015 were linked with genetic tests to assess screen positive and detection rates. …”
Get full text

Implementasi Algoritma Genetika dalam optimasi Performa Truk Sampah Menggunakan Aplikasi Trash Queen by Arief Kelik Nugroho, Muhammad Naufal Faza

“…Trash Queen utilizes genetic algorithm to run simulations repeatedly until an optimal solution is obtained. …”
Get full text

A novel early stage drip irrigation system cost estimation model based on management and environmental variables by Masoud Pourgholam-Amiji, Khaled Ahmadaali, Abdolmajid Liaghat

“…Then, different machine learning models such as Multivariate Linear Regression, Support Vector Regression, Artificial Neural Networks, Gene Expression Programming, Genetic Algorithms, Deep Learning, and Decision Trees, were used to estimate the costs of each of the of the aforementioned sections. …”
Get full text

RNA editing-based biomarker blood test for the diagnosis of bipolar disorder: protocol of the EDIT-B study by Andrea Miranda-Mendizabal, Diana Vetter, Juan Zambrano, Jeff Zarp, Victor Chavarría, Anna Giménez-Palomo, Meritxell Gonzalez-Campos, Marc Valenti, Lara Walczer Baldinazzo, Sara Siddi, Maurizio Ferrari, Dinah Weissmann, Chantal Henry, Josep Maria Haro, Lars Vedel Kessing, Eduard Vieta

Get full text

Assessment of the essential oil extracted from Citrus aurantifolia leaves using solvent-free microwave extraction technique by G.M. Masud Rana, Md. Jasim Uddin, Jaytirmoy Barmon, Bijoy Chandra Ghos, Tahmina Akter Chowdhury, Amit Kumar Dey, Bijoy Maitra, Ismat Moin Tamanna, AHM Mahbubur Rahman, Barun Kanti Saha, Mst. Sarmina Yeasmin

Get full text

Efficacy and safety of various drug combinations in treating plaque Psoriasis: A meta-analysis [version 2; peer review: 2 approved] by Nayak Snehasis, Karshe Haji Ali, Pendyala Siri, Ngabo Herve, Sayed Zafar

“…Background Psoriasis, a chronic inflammatory disease affecting the skin, joints, and nails (2-3% worldwide), significantly affects quality of life. Genetic and environmental factors also play key roles. …”
Get full text

Molecular characterization of ST15 carbapenem-resistant Klebsiella pneumoniae isolated in a single patient by Yongjin Hu, Rong Tang, Shanshan Jin, Jiahao Guan, Xiaoxiao Meng, Zengpeijie Dan, Ruilan Wang, Hong-Yu Ou, Jian Lu

“…The 9 KP isolates share a high degree of genetic similarity. The plasmid p2-KP3762–1, harbouring the carbapenem resistance gene blaKPC-2, may undergo inter-strain and inter-clone transfer via conjugation in the patient during treatment. …”
Get full text