Results 171 to 180 of about 40,068 (305)

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

open access: yesMuscle &Nerve, EarlyView.
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

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

open access: yesPrenatal Diagnosis, EarlyView.
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

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

open access: yesPrenatal Diagnosis, EarlyView.
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

Thyroid ultrasonography B-mode and color-Doppler.

open access: yesBiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2003
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

Kaposiform hemangioendothelioma: Diagnosis and treatment

open access: yesPediatric Investigation, EarlyView.
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

Design and Statistical Optimization of PLA Organoclay‐Based Dispersions for Recyclable Packaging Paper

open access: yesPolymer Engineering &Science, EarlyView.
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

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