Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population by Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren

“…It is characterized by central diabetes insipidus, juvenile-onset diabetes mellitus (DM), optic atrophy (OA), and deafness. The natural history of WS is variable, even within the same family and with the same variant.ObjectiveTo report the phenotypes of five patients of Druze origin, all carrying the same autosomal recessive pathogenic variant in the WFS1 gene.Patients & methodsFive patients belonging to three core families were enrolled. …”
Get full text

Economic evaluation of pan-genotypic generic direct-acting antiviral regimens for treatment of chronic hepatitis C in Iran: a cost-effectiveness study by Seyed Moayed Alavian, Mohammad Tasavon Gholamhoseini, Heidar Sharafi, Helena HL Borba, Asma Sabermahani, Behzad Hajarizadeh

“…This study evaluated the cost-effectiveness of genotype-dependent and pan-genotypic DAA regimens in Iran as an example of a resource-limited setting.Methods A Markov model was developed to simulate HCV natural history. A decision tree was developed for HCV treatment, assuming four scenarios, including scenario 1: genotyping, sofosbuvir/ledipasvir (SOF/LDV) for genotype 1, and sofosbuvir/daclatasvir (SOF/DCV) for genotype 3; scenario 2: genotyping, SOF/LDV for genotype 1, and sofosbuvir/velpatasvir (SOF/VEL) for genotype 3; scenario 3: no genotyping and SOF/DCV for all; and scenario 4: no genotyping and SOF/VEL for all. …”
Get full text

Impact of a potential Chlamydia vaccine in the USA: mathematical modelling analyses by Hiam Chemaitelly, Laith J Abu-Raddad, Houssein H Ayoub, Susanne F Awad, Monia Makhoul

“…The model’s parameters were chosen based on current knowledge from the literature on CT’s natural history and epidemiology. The model’s calibration used age-specific CT prevalence data sourced from the biannual rounds of the National Health and Nutrition Examination Surveys. …”
Get full text

Three-dimensional diffractive acoustic tomography by Luca Menozzi, Tri Vu, Aidan J. Canning, Harshal Rawtani, Carlos Taboada, Marie Elise Abi Antoun, Chenshuo Ma, Jesse Delia, Van Tu Nguyen, Soon-Woo Cho, Jianing Chen, Theresa Charity, Yirui Xu, Phuong Tran, Jun Xia, Gregory M. Palmer, Tuan Vo-Dinh, Liping Feng, Junjie Yao

Get full text

Distinct ecological processes shape micro-eukaryotic generalists and specialists in a canal-disturbed wetland, Lake Weishan, China by Xinghao Li, Yunfeng Wang, Micah Dunthorn, Chengzhi Mao, Qiaoyi Kong, Saleh A. Al-Farraj, Weibo Song, Jie Huang

Get full text

Insulin Resistance and Chronic Kidney Disease in Patients with Type 1 Diabetes Mellitus by Mihaela Vladu, Diana Clenciu, Ion Cristian Efrem, Mircea-Cătalin Forțofoiu, Anca Amzolini, Simona Tudorică Micu, Maria Moţa, Maria Forțofoiu

“…Insulin resistance plays an important role in the natural history of type 1 diabetes. The purpose of the study was to determine the prevalence of CKD in T1DM and the correlation with insulin resistance (IR) in patients with CKD. …”
Get full text

Using target enrichment sequencing to study the higher-level phylogeny of the largest lichen-forming fungi family: Parmeliaceae (Ascomycota) by Felix Grewe, Claudio Ametrano, Todd J. Widhelm, Steven Leavitt, Isabel Distefano, Wetchasart Polyiam, David Pizarro, Mats Wedin, Ana Crespo, Pradeep K. Divakar, H. Thorsten Lumbsch

Get full text

In Vivo Corneal Confocal Microscopy Detects Improvement of Corneal Nerve Parameters following Glycemic Control in Patients with Type 2 Diabetes by Xiaofan Jia, Xiaogang Wang, Xiaoxia Wang, Qi Pan, Tongzhang Xian, Xiaobin Yu, Lixin Guo

“…This study aimed to investigate whether in vivo corneal confocal microscopy (CCM) can detect the improvement of corneal nerve parameters following glycemic control in patients with type 2 diabetes in natural history. Methods. Thirty-two patients with diabetes complicated by DPN and 12 age-matched control subjects underwent detailed clinical examination and were assessed per the Toronto Clinical Scoring Scale for DPN, nerve conduction studies, and IVCCM at baseline and after approximately one year from the first visit. …”
Get full text

Adaptive evolution of stress response genes in parasites aligns with host niche diversity by Armando J. Cruz-Laufer, Maarten P. M. Vanhove, Lutz Bachmann, Maxwell Barson, Hassan Bassirou, Arnold R. Bitja Nyom, Mare Geraerts, Christoph Hahn, Tine Huyse, Gyrhaiss Kapepula Kasembele, Samuel Njom, Philipp Resl, Karen Smeets, Nikol Kmentová

Get full text

How to publish a new fungal species, or name, version 3.0 by M. Catherine Aime, Andrew N. Miller, Takayuki Aoki, Konstanze Bensch, Lei Cai, Pedro W. Crous, David L. Hawksworth, Kevin D. Hyde, Paul M. Kirk, Robert Lücking, Tom W. May, Elaine Malosso, Scott A. Redhead, Amy Y. Rossman, Marc Stadler, Marco Thines, Andrey M. Yurkov, Ning Zhang, Conrad L. Schoch

Get full text

Autoencoder Reconstruction of Cosmological Microlensing Magnification Maps by Somayeh Khakpash, Federica B. Bianco, Georgios Vernardos, Gregory Dobler, Charles Keeton

Get full text

Toxicity Assessment of the Xanthid Crab Demania cultripes from Cebu Island, Philippines by Manabu Asakawa, Gloria Gomez-Delan, Shintaro Tsuruda, Michitaka Shimomura, Yasuo Shida, Shigeto Taniyama, Mercy Barte-Quilantang, Jo Shindo

Get full text

Long-Term Follow-Up, Association between CARD15/NOD2 Polymorphisms, and Clinical Disease Behavior in Crohn’s Disease Surgical Patients by Francesco Giudici, Tiziana Cavalli, Cristina Luceri, Edda Russo, Daniela Zambonin, Stefano Scaringi, Ferdinando Ficari, Marilena Fazi, Amedeo Amedei, Francesco Tonelli, Cecilia Malentacchi

“…After a mean follow-up of 7.3 years, the correlations between clinical features and CD natural history were analyzed. Results. CARD15/NOD2 polymorphisms were significantly associated with younger age at diagnosis compared to wild type cases (p<0.05). …”
Get full text

Actual and optimal abundance of the main ungulate species in forestry and hunting districts of Ukraine by Ihor Sheihas, Ihor Gulyk

Get full text

The InBIO Barcoding Initiative Database: contribution to the knowledge of DNA barcodes of the vascular plants of north-eastern Portugal by João Queirós, Rodrigo Silva, Catarina J. Pinho, Hélia Vale-Gonçalves, Ricardo Pita, Paulo Alves, Pedro Beja, Joana Paupério, Miguel Porto

“…This is one of the public releases of the IBI database, which provides genetic and distributional data for several taxa.All vouchers are deposited in the Herbarium of the Museum of Natural History and Science of the University of Porto (MHNC-UP) and their DNA barcodes are publicly available in the Barcode of Life Data System (BOLD), NCBI GenBank online databases and International Nucleotide Sequence Database Collaboration (INSDC).…”
Get full text

Within-species variation in the gut microbiome of medaka (Oryzias latipes) is driven by the interaction of light intensity and genetic background by Evangelista, Charlotte, Kamenova, Stefaniya, Diaz Pauli, Beatriz, Sandkjenn, Joakim, Vøllestad, Leif Asbjørn, Edeline, Eric, Trosvik, Pål, de Muinck, Eric Jacques

Get full text

TSH Levels in Subclinical Hypothyroidism in the 97.5th Percentile of the Population by Laura Pérez-Campos Mayoral, María Teresa Hernández-Huerta, Gabriel Mayoral-Andrade, Eduardo Pérez-Campos Mayoral, Edgar Zenteno, Ruth Martínez-Cruz, Héctor Martínez Ruíz, Margarito Martínez Cruz, Alma Dolores Pérez Santiago, Eduardo Pérez-Campos

“…We identified studies of TSH on the natural history of subclinical hypothyroidism from population-based prospective cohort studies, which follow up patients for several years. …”
Get full text

Competing sexual-asexual generic names in Agaricomycotina (Basidiomycota) with recommendations for use by Joost A. Stalpers, Scott A. Redhead, Tom W. May, Amy Y. Rossman, Jo Anne Crouch, Marc A. Cubeta, Yu-Cheng Dai, Roland Kirschner, Gitta Jutta Langer, Karl-Henrik Larsson, Jonathan Mack, Lorelei L. Norvell, Franz Oberwinkler, Viktor Papp, Peter Roberts, Mario Rajchenberg, Keith A. Seifert, R. Greg Thorn

Get full text

Genomic insights into ecological adaptation of oaks revealed by phylogenomic analysis of multiple species by Tian-Rui Wang, Xin Ning, Si-Si Zheng, Yu Li, Zi-Jia Lu, Hong-Hu Meng, Bin-Jie Ge, Gregor Kozlowski, Meng-Xiao Yan, Yi-Gang Song

Get full text

The Climate-forming role of the production process of the forests of Ukraine by Platon Tretyak, Nelia Lukianchuk, Hryhoriy Krynytskyy

Get full text