Results 121 to 130 of about 31,405 (257)

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

High‐ and Ultra‐High‐Frequency Ultrasound Identifies a Subclinical Link Between Suppurative Comedonal Nevus and Hidradenitis Suppurativa

Journal of Ultrasound in Medicine, EarlyView.
Suppurative nevus comedonicus (SNC) is a variant of nevus comedonicus in which the characteristic features coexist with recurrent inflammatory lesions that clinically resemble those of hidradenitis suppurativa (HS). We present the ultrasound characteristics of this entity and emphasize the value of high‐resolution dermatologic ultrasound both as a ...
Marta Ivars, Katia Henostroza, Fabià Torres‐Betato, Eva Vilarrasa, Ximena Wortsman   +4 more
wiley   +1 more source

Circulating Omega‐3 Fatty Acids and Cardiometabolic Outcomes: A Systematic Review of Publications From UK Biobank

Lipids, EarlyView.
ABSTRACT Studies have shown that omega‐3 fatty acids may protect against cardiovascular diseases (CVDs) and related metabolic conditions. UK Biobank is a large cohort study that includes data on plasma omega‐3 fatty acids at study entry and health outcomes during the follow‐up period.
Warda Tul Firdous, Philip C. Calder
wiley   +1 more source

Accelerated Biological Aging Increases the Risk of Head and Neck Cancer: Insights From Genetic Instruments of Epigenetic Clocks

Molecular Carcinogenesis, EarlyView.
ABSTRACT Epigenetic clocks are robust biomarkers of biological aging and have been associated with cancer susceptibility. However, the relationship between genetically predicted epigenetic age acceleration and head and neck cancer risk remains unclear. Using a large case‐control study of 2189 head and neck squamous cell carcinoma (HNSCC) cases and 2189
Jiaqi Wang, Jie Deng, Yifan Xu, Chia‐Wen Tsai, Wen‐Shin Chang, Yang Deng, Maosheng Huang, Da‐Tian Bau, Guojun Li, Jian Gu   +9 more
wiley   +1 more source

Mapping Causal Biology: Mendelian Randomization in the Era of Big Data

Med Research, EarlyView.
Mendelian randomization (MR) leverages genetic variants to mitigate confounding biases in causal inference. This review systematically maps MR's methodological evolution, highlights its expanding applications in epidemiology and drug target validation, and outlines future directions for overcoming current biases through dynamic, multi‐omics, and cross ...
Xuanlu Shen, Chunrun Qu, Zeyu Wang, Jinglin Zhou, Hongwei Liu, Yingjie Li, Bowei Liu, Hao Zhang, Nan Zhang, Jingwei Zhang, Quan Cheng   +10 more
wiley   +1 more source

Intrinsic Capacity, Polygenic Risk Score, and Risk of Glaucoma. [PDF]

Transl Vis Sci Technol
Kai JY, Gong SY, Hu YH, Dong XX, Li DL, Ke C, Pan CW.   +6 more
europepmc   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Polygenic risk score and 20-year prostate cancer-specific mortality and survival. [PDF]

Commun Med (Lond)
Plym A, Wang A, Stopsack KH, Zhang Y, Baras A, Regeneron Genetics Center, Drake I, Clements M, Penney KL, Giovannucci E, Kibel AS, Mucci LA, Wiklund F.   +12 more
europepmc   +1 more source