Results 161 to 170 of about 47,885 (247)

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

Input Visualizations to Track Health Data by Older Adults with Multiple Chronic Conditions

Computer Graphics Forum, EarlyView.
Abstract Older adults living with multiple chronic conditions (MCC) can considerably benefit from collecting and reflecting on their health data. Many older adults collect their health data using various approaches, such as digital tools or handwritten notebooks.
Shri Harini Ramesh, Foroozan Daneshzand, Matteo Sotelo, Mahsa Sinaei, Fateme Rajabiyazdi   +4 more
wiley   +1 more source

Risk Factors for Implant Failure and Peri‐Implantitis: A Retrospective Cohort Study

Clinical Oral Implants Research, EarlyView.
ABSTRACT Objectives This retrospective cohort study evaluated patient‐, implant‐, site‐, procedural‐, biological‐, and prosthesis/mechanics‐related factors associated with early and late implant failure and peri‐implantitis. Material and Methods Electronic health record data from a university center were analyzed.
Nathalia Vilela, Bruno C. V. Gurgel, Hélio D. P. da Silva, Claudio M. Pannuti, Poliana M. Duarte   +4 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Real‐World Cost and Utilisation Burden of Diagnosed Metabolic Dysfunction‐Associated Steatotic Liver Disease in Patients With Type 2 Diabetes in the United States: A Retrospective Cohort Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims This study quantified the real‐world healthcare costs and utilisation associated with diagnosed metabolic dysfunction‐associated steatotic liver disease (MASLD) among adults with Type 2 diabetes (T2D). Methods We conducted a retrospective cohort study using IQVIA PharMetrics Plus Closed Health Plan data from January 2016 to June 2025 ...
Tien Hoang Tran, Hyung‐Seok Kim, Rozalina G. McCoy, Zafar Zafari   +3 more
wiley   +1 more source

Neuropsychiatric Outcomes Associated With GLP‐1 Receptor Agonist Use in Medicare Beneficiaries With Type 2 Diabetes: Variation by Treatment Pattern and Obesity Status

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Glucagon‐like peptide‐1 (GLP‐1) receptors are expressed in brain regions governing mood, reward and stress, yet the neuropsychiatric effects of GLP‐1 receptor agonist (GLP‐1 RA) therapy remain poorly characterized. We estimated associations between GLP‐1 RA use and neuropsychiatric disorders and variation by obesity status and treatment ...
Seo Hyon Baik, Fitsum Baye, Haotian Xian, Kin Wah Fung, Clement J. McDonald   +4 more
wiley   +1 more source

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Glycated albumin: An old yet new biomarker in people with diabetes and the potential for novel applications

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Glycated albumin (GA), the product of nonenzymatic glycation of serum albumin, reflects the mean glucose levels over the preceding approximately 2 weeks, bridging the gap between daily self‐monitoring of blood glucose and the roughly 3‐month window covered by glycated hemoglobin (HbA1c) measurement.
Masakazu Aihara, Naoto Kubota
wiley   +1 more source