Results 171 to 180 of about 77,293 (254)

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, EarlyView.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Low‐Cost and Detunable Wireless Resonator Glasses for Enhanced Eye MRI With Concurrent High‐Quality Whole‐Brain MRI

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT PurposeTo develop a wearable wireless resonator glasses design that enhances eye MRI signal‐to‐noise ratio (SNR) without compromising whole‐brain image quality at 7 T. MethodsThe device integrates two detunable LC loop resonators into a lightweight, 3D‐printed frame positioned near the eyes.
Ming Lu, Xiaoyue Yang, Jason E. Moore, Pingping Li, Adam W. Anderson, John C. Gore, Seth A. Smith, Xinqiang Yan   +7 more
wiley   +1 more source

Head Circumference for Growth Curves and Percentiles for 0-2-Year-Old Children in Ankara: Comparison with GAMLSS and Quantile Regression Methods. [PDF]

Turk Arch Pediatr
Çakmak E, Kılıç S, Özdemir P, Karaağaoğlu E.   +3 more
europepmc   +1 more source

Development and validation of a nutrition risk screening for patients with childhood cancer in Brazil (NUTRICCAN)

Nutrition in Clinical Practice, EarlyView.
Abstract Background Diagnosing malnutrition in patients with pediatric cancer is challenging because tumor masses can interfere with anthropometric measurements. STRONGkids considers cancer a general risk factor, whereas Screening Tool for Childhood Cancer (SCAN) classifies patients as at risk or not, potentially missing those who need nutrition ...
Cristiane Ferreira Marçon, Carolina Araújo dos Santos, Fernanda Luisa Ceragioli Oliveira   +2 more
wiley   +1 more source

Measurement of Head Circumference Using a Smartphone: Feasibility Cohort Study. [PDF]

JMIR Form Res
Yordanov S, Akhter K, Quan Teh J, Naushahi J, Jalloh I.   +4 more
europepmc   +1 more source

Impact of a low‐carbohydrate diet on cardiometabolic parameters in individuals with and without diabetes: An 8‐year longitudinal study within the ELSA‐Brasil cohort

Nutrition in Clinical Practice, EarlyView.
Abstract Background Low‐carbohydrate diets (LCDs) are widely adopted for metabolic management, but their long‐term cardiometabolic effects in diverse populations remain unclear. We aimed to evaluate the association between self‐selected moderate LCD adherence and cardiometabolic parameters in individuals with and without diabetes.
Leticia Batista de Azevedo, Haysla Xavier Martins, Oscar Geovanny Enriquez‐Martinez, Maria del Carmen Bisi Molina   +3 more
wiley   +1 more source

Comparative Efficacy of Metabolic/Bariatric Surgery Versus GLP‐1 Receptor Agonists: A Network Meta‐Analysis of Randomized Controlled Trials

Obesity, EarlyView.
ABSTRACT Objective This study compared the efficacy of metabolic/bariatric surgery (MBS) and GLP‐1 receptor agonists (GLP‐1 RAs), including dual GLP‐1/GIP analogues, for weight and metabolic outcomes in adults with obesity. Methods A network meta‐analysis of randomized controlled trials compared MBS or GLP‐1 RAs versus lifestyle intervention in adults ...
Lucas Sabatella, Patricia M. Ortega, Víctor Valentí Azcárate, Fernando Rotellar Sastre, Adriana Uriz Pagola, Ahmed Ahmed, Sanjay Purkayastha, Carlota Tuero Ojanguren, Nuria Blanco Asensio, Manuel F. Landecho   +9 more
wiley   +1 more source

Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life. [PDF]

Front Psychiatry
Cirnigliaro L, Clericò L, Russo LC, Prato A, Caruso M, Rizzo R, Barone R.   +6 more
europepmc   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source