Results 41 to 50 of about 87,553 (201)

High-sensitivity C-reactive protein is a predictive factor of adiposity in children : results of the Identification and prevention of Dietary- and lifestyle-induced health Effects in Children and InfantS (IDEFICS) study [PDF]

, 2013
Background-Whereas cross-sectional studies have shown that obesity is associated with increased C-reactive protein (CRP) levels in children, little is known about the impact of low-grade inflammation on body mass changes during growth.
Fraterman, Arno, Gonzalez-Gil, Esther M, Hadjigeorgiou, Charis, Iacoviello, Licia, Marild, Staffan, Molnar, Denes, Moreno, Luis A, Nappo, Annunziata, Peplies, Jenny, Russo, Paola, Siani, Alfonso, Sioen, Isabelle, Veidebaum, Toomas   +12 more
core   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Low Anterior Resection Syndrome

Current Gastroenterology Reports, 2020
Low anterior resection syndrome is a highly prevalent condition that can develop after anal sphincter-sparing surgery for rectal cancer and impair quality of life. In this review, we summarize the major features and pathophysiology of this syndrome and discuss treatment approaches.Quality of life correlates significantly with severity of low anterior ...
Theresa H. Nguyen, Reena V. Chokshi
openaire   +6 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach

Molecular Autism, 2023
Background Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support.
Natali Bozhilova, Alice Welham, Dawn Adams, Stacey Bissell, Hilgo Bruining, Hayley Crawford, Kate Eden, Lisa Nelson, Christopher Oliver, Laurie Powis, Caroline Richards, Jane Waite, Peter Watson, Hefin Rhys, Lucy Wilde, Kate Woodcock, Joanna Moss   +16 more
doaj   +1 more source

The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis [PDF]

, 2018
A nonsense variant (p.W358X) of human pancreatic lipase related protein 2 (PNLIPRP2) is present in different ethnic populations with a high allele frequency.
Hegyi, Eszter, Hegyi, Peter, Lowe, Mark E, Nemeth, Balazs Csaba, Pesei, Zsofia Gabriella, Sahin-Toth, Miklos, Szentesi, Andrea, Szucs, Akos   +7 more
core   +2 more sources

A novel index to measure pre‐planning in the Tower of London task: Test–retest reliability and known‐group validity

British Journal of Psychology, EarlyView.
Abstract The Tower of London (TOL) is a planning task frequently used in clinical settings and research. Planning and execution times are the most common outcome variables despite yielding lower effect sizes in clinical group comparisons and lower test–retest reliability than planning accuracy. Here, it is proposed that planning time be analysed not in
Lena V. Schumacher, Benjamin Rahm, Christoph P. Kaller, Valentin Schyle, Cornelius Weiller, Josef M. Unterrainer   +5 more
wiley   +1 more source

Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.

PLoS ONE, 2011
Mutations in the inositol polyphosphate 5-phosphatase OCRL1 cause Lowe Syndrome, leading to cataracts, mental retardation and renal failure. We noted that cell types affected in Lowe Syndrome are highly polarized, and therefore we studied OCRL1 in ...
Adam G Grieve, Rachel D Daniels, Elena Sanchez-Heras, Matthew J Hayes, Stephen E Moss, Karl Matter, Martin Lowe, Timothy P Levine   +7 more
doaj   +1 more source

Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl

Frontiers in Pediatrics, 2021
Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns.
Ling Hou, Yue Du, Yubin Wu, Yue Zeng, Chengguang Zhao   +4 more
doaj   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source