ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Satisfaction with the Quality of Life of Parents of Cleft Lip and Palate Patients Aged 8-12 Years, Tawanchai Center, Northeastern, Thailand. [PDF]
Paggasang Y +4 more
europepmc +1 more source
Abstract INTRODUCTION Efficient cerebral microhemorrhage (MCH) monitoring is critical for anti‐amyloid therapy safety due to amyloid‐related imaging abnormalities with hemosiderin deposition (ARIA‐H) risk. We developed MCH‐Guard, a multimodal machine‐learning framework, to stratify MCH risk for Alzheimer's Disease Neuroimaging Initiaitive (ADNI ...
Alper Gel +5 more
wiley +1 more source
Management of Osteogenesis Imperfecta Complicated by Severe Pneumonia in a Resource-Limited Setting: A Case Report. [PDF]
Shah BK +6 more
europepmc +1 more source
Spot the Difference: Morphometrics Reveals Key Traits for Distinguishing Two Cryptic Juvenile Skate
Juvenile flapper (Dipturus intermedius) and common blue (D. batis) skates are difficult to distinguish due to overlapping distributions and similar morphologies, which hinders monitoring efforts. Using geometric morphometrics and image analysis, this study identified four robust features thay reliably differentiate juveniles: ventral coloration, disc ...
Sophie Loca +13 more
wiley +1 more source
Anatomical References for the Study of 3D Facial Photographs: A Scoping Review and Proposed Preliminary Framework for Comprehensive Facial Evaluation. [PDF]
Muñoz G +5 more
europepmc +1 more source
ABSTRACT Background Keratoconus is a progressive corneal ectatic disorder. Accelerated transepithelial corneal cross‐linking (ATE‐CXL) aims to halt progression while preserving the epithelium, but evidence on its 12‐month efficacy requires further evaluation.
Rafea Allawi Fayyadh +4 more
wiley +1 more source
Percepção tátil e visual no aumento de radix com cartilagem fragmentada livre na rinoplastia
FABIANO CALIXTO FORTES ARRUDA
doaj +1 more source
A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the <i>NFIX</i> Gene. [PDF]
Mori T +4 more
europepmc +1 more source
Effects of Spirulina Enrichment on Bread Quality: Color, Texture, Volatile, and Sensory Properties
This study explored how the addition of 1%–2% Spirulina powder affects bread quality, focusing on color, texture, volatile compounds, and sensory characteristics. Spirulina mainly influenced bread color and volatile profile, while texture remained largely unchanged. The enriched samples also showed more pronounced bitter and marine notes.
Francesca Masino +7 more
wiley +1 more source

