Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim +5 more
wiley +1 more source
Comparison of value of color Doppler ultrasonography and electrocardiogram in predicting early-stage ventricular remodeling after acute myocardial infarction: An analysis of 306 cases. [PDF]
Wang X, Hua X, Liu X.
europepmc +1 more source
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau +10 more
wiley +1 more source
Comparison and correlations between findings of hysteroscopy and vaginal color Doppler ultrasonography for detection of uterine abnormalities in patients with recurrent implantation failure. [PDF]
Navali N +4 more
europepmc +1 more source
Sensitivity, Specificity, and Accuracy of Color Doppler Ultrasonography for Diagnosis of Retinal Detachment. [PDF]
Akhlaghi M +3 more
europepmc +1 more source
Thyroid ultrasonography B-mode and color-Doppler.
Recently, ultrasonography of the thyroid gland has proved to be a useful clinical diagnostic method. The newly developed high-resolution ultrasonography with color-Doppler flow mapping function can reveal fine details of the thyroid gland and the hemodynamic features of thyroid neoplasmas.
openaire +1 more source
Computer vision analysis of luteal color Doppler ultrasonography for early and automated pregnancy diagnosis in Bos taurus beef cows. [PDF]
Gonçalves LM, Fontes PLP, Alves AAC.
europepmc +1 more source
Kaposiform hemangioendothelioma: Diagnosis and treatment
Vascular endothelial growth factor‐C (VEGF‐C)/vascular endothelial growth factor receptor‐3 (VEGFR‐3) and angiopoietin‐2 (Ang‐2)/tyrosine kinase with immunoglobulin‐like and EGF‐like domain 2 (TIE2) signaling pathways play an important role in lymphangiogenesis.
Yi Tian +5 more
wiley +1 more source
Through experimental design, polylactic acid (PLA)—organoclay dispersions were optimized to produce biobased coatings that have a high barrier potential while maintaining repulpability, promoting sustainable packaging solutions. ABSTRACT Performance and recyclability of paper coatings depend on precise control of polymer, surfactant, filler ...
Abdenour Chenni +7 more
wiley +1 more source

