Results 161 to 170 of about 3,414,711 (270)

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Anthropometric patterns in children with moderate‐to‐severe atopic dermatitis: Cross‐sectional insights from the TREATkids cohort

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives The relationship between atopic dermatitis (AD), weight, height, and body mass index (BMI) in children and adolescents and the impact of systemic treatments is controversial. We report the distribution of weight, height, and BMI in the German TREATkids cohort compared to a standardized German cohort (Kromeyer‐Hauschild)
Barbara Kind, Doreen Siegels, Hagen Ott, Susanne Abraham, René Sachse, Katharina Lönnecke, Inken Harder, Annice Heratizadeh, Katja Nemat, Christian Vogelberg, Dora Stölzl, Ines Gellhaus, Susanne Lau, Mehrak Yoosefi Moridani, Thomas Werfel, Stephan Weidinger, Jochen Schmitt, the TREATgermany study group   +17 more
wiley   +1 more source

Causal treatment effects of gait‐analysis‐informed surgery on the Gait Outcomes Assessment List in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To estimate the effect of surgery on parent‐reported gait outcomes as measured using the Gait Outcomes Assessment List (GOAL) questionnaire in a cohort undergoing surgery guided by instrumented gait analysis. Method This was an observational study (n = 146 individuals, 59 females [40%], median age 7 years 10 months [interquartile range 6 ...
Michael H. Schwartz, Andrew G. Georgiadis   +1 more
wiley   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source

International consensus recommendations for identifying malnutrition in children with neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
Abstract Children with neurological impairment (CNI) are at increased risk of malnutrition because of functional, medical, and socioeconomic challenges. However, difficulties in obtaining reliable anthropometric measurements and differences in body composition limit the usefulness of conventional nutritional indicators.
Sarah Vermilyea, Jodi Wolff, Gina Rempel, Jessie M. Hulst, Koen Huysentruyt, Mandy Neudecker, Denise Kennedy, Valérie Marchand, Erika Ochoa‐Ortiz, Richard D. Stevenson, Promoting International Collaboration for Nutrition in Neurological Impairment in Children (PICNNIC) Working Group, Lucinda Lourens, Mark Conaway, Tejas S. Desai, Mercedes Ruiz Brunner, Nathalia Sanchez Vargas, Valeria Martinez Tenorio, Kristie L. Bell, Claudio Romano, Richard Grossberg   +19 more
wiley   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

GSK3α‐mediated regulation of the RNA demethylase fat mass and obesity‐associated protein (FTO) during murine spermatogenesis

The FEBS Journal, EarlyView.
FTO regulates mRNA stability and translational efficiency through its m6A‐demethylation activity. GSK3 functions as an upstream regulator of FTO, leading to its inhibition via phosphorylation. In male germ cells, FTO activity is kept in check by GSK3α.
Neha Choudhari, Budheswar Dehury, Rounak Roy, Radhakrishnan Periyasamy, Indrashis Bhattacharya, Mahesh Sahare, Srinivasan Vijayraghavan, Souvik Dey   +7 more
wiley   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Toward an Ecumenical Metaphysics? A Response to Reviewers of Christ the Logos of Creation

International Journal of Systematic Theology, EarlyView.
Abstract After a series of promising ecumenical meetings in 1929 and 1931 with the Jesuit Erich Przywara, who advocated an analogical understanding of the relationship between God and world – doing so in part to ward off the danger posed by modern forms of pantheism – Karl Barth abruptly threw down the gauntlet and presented a serious obstacle to ...
John R. Betz
wiley   +1 more source

Brachydactyly Type A1 Caused by an <i>IHH</i> Variant in a Patient with Disproportionate Short Stature: A Case Report. [PDF]

Reports (MDPI)
García de Pablo I, Ontoria Betancort MC, Martínez Bugallo F, Martín Pérez SE, Martín Pérez IM.   +4 more
europepmc   +1 more source