Results 151 to 160 of about 67,573 (268)

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

Human Genome Variation
A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion.
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto   +4 more
doaj   +1 more source

Weight Loss as a Determinant of Histological Improvement in Metabolic Dysfunction‐Associated Steatotic Liver Disease in People With Obesity. A Systematic Review and Network Meta‐Analysis of Randomised Clinical Trials

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Metabolic dysfunction‐associated steatotic liver disease (MASLD) is closely linked to obesity and insulin resistance, and sustained weight loss is associated with histological improvement. Whether different obesity‐management modalities exert weight‐independent hepatic effects remains uncertain.
Matteo Monami, Amanda Belluzzi, Silvio Buscemi, Luca Busetto, Ricardo Cohen, Maurizio De Luca, Andrea Galli, Edoardo Mannucci, Tarissa Z. Petry, Benedetta Ragghianti, Paolo Sbraccia, Dror Dicker   +11 more
wiley   +1 more source

The disappearance of malaria from Denmark, 1862–1900

The Economic History Review, EarlyView.
Abstract The reason for malaria's disappearance from northwestern Europe in the early twentieth century has long been discussed but remains an unresolved conundrum. This is partially due to a previous focus on the early modern era, and partially because various theories have never been tested against each other.
Mathias Mølbak Ingholt, Maarten van Wijhe, Lone Simonsen, Daniel Weinberger   +3 more
wiley   +1 more source

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

European Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman, Virgil A. S. H. Dalm, Marieke Joosten, Frans J. Smiers, Leendert Porcelijn, Arjan Hoogendijk, Hans Janssen, Nicole N. van der van der Wel, Idske C. L. Kremer Hovinga, Masja de Haas, Marjon H. Cnossen   +10 more
wiley   +1 more source

Microbiological, Clinical, and Pharmacokinetic/Pharmacodynamic Data to Support EUCAST Aztreonam–Avibactam Minimum Inhibitory Concentration Susceptibility Breakpoints Against Enterobacterales

Infectious Diseases and Therapy
Introduction Aztreonam–avibactam was approved for adults with limited treatment options for multiple infections due to aerobic Gram-negative organisms in the European Union and for complicated intra-abdominal infection in the US, following the phase 3 ...
Susan R. Raber, Rujia Xie, Halley Rogers, Elena Soto, Francis F. Arhin, Gregory G. Stone, Heidi Leister-Tebbe, Joseph W. Chow   +7 more
doaj   +1 more source

Current perspectives on KMT2A fusion proteins and menin inhibition in paediatric acute myeloid leukaemia

The FEBS Journal, EarlyView.
Genetic rearrangements resulting in the expression of KMT2A fusion alleles can lead to dramatic transcriptional disturbances that contribute to the onset of acute leukaemias. Fortunately, menin inhibition has emerged as a promising new class of targeted therapy.
Lydia Elaine Roets, Graeme Greenfield, Katrina Mairead Lappin   +2 more
wiley   +1 more source

Association between the NHHR and hepatic steatosis and liver fibrosis: a population-based study

Scientific Reports
Non-alcoholic fatty liver disease (NAFLD) is strongly associated with dyslipidemia, and the non-high-density lipoprotein cholesterol to high-density lipoprotein cholesterol ratio (NHHR) is a more comprehensive indicator of lipids.
Xiaoxian Yang, Haiyi Yan, Rui Guo, Yan Chen   +3 more
doaj   +1 more source

Ossifying spindled and epithelioid tumour: Expanding the clinical and morphologic spectrum of a recently described entity

Histopathology, EarlyView.
Ossifying spindled and epithelioid tumour (OSET) can show unusual morphologic features, including minimal or absent peripheral ossification, eosinophil‐rich stroma, increased mitotic activity (≥5 mitotic figures per 10 high‐power fields), and necrosis.
Rayan M Sibira, Benjamin F Smith, Amy Davis, Jessica L Davis, Nada Mohamed, Riyam Zreik, David J Papke Jr., Michael Michal, Sintawat Wangsiricharoen, Karen J Fritchie   +9 more
wiley   +1 more source

Pharmacovigilance study of INSTIs associated with weight gain and glucose/lipid metabolism adverse events based on the FDA adverse event reporting system

HIV Medicine, EarlyView.
Abstract Objective Integrase strand transfer inhibitors (INSTIs) are widely used in antiretroviral therapy (ART) for people with HIV due to their efficacy and tolerability. However, concerns about weight gain and metabolic disturbances have emerged.
Leidan Zhang, Ling Chen, Jia Tang, Xiaosheng Liu, Liyuan Zheng, Fada Wang, Xin Huang, Wei Cao, Taisheng Li   +8 more
wiley   +1 more source