Publications by authors named "L Y Matsuoka"
Purpose: Hardikar syndrome (HS, MIM #301068) is a female-specific multiple congenital anomaly syndrome characterized by retinopathy, orofacial clefting, aortic coarctation, biliary dysgenesis, genitourinary malformations, and intestinal malrotation. We previously showed that heterozygous nonsense and frameshift variants in MED12 cause HS. The phenotypic spectrum of disease and the mechanism by which MED12 variants cause disease is unknown.
View Article and Find Full Text PDFObjectives: Combined heart-liver transplantation (CHLT) is becoming increasingly frequent as a maturing population of patients with Fontan-palliated congenital heart disease develop advanced liver fibrosis or cirrhosis. The authors present their experience with CHLT for congenital and noncongenital indications, and identify characteristics associated with poor outcomes that may guide intervention in high-risk patients.
Design: This was a single-center retrospective cohort study.
Purpose: To determine overall survival (OS), best response, and toxicities in patients with hepatocellular carcinoma (HCC) previously treated with chemoembolization (TACE+) or yttrium-90 resin transarterial radioembolization (TARE) compared with those of TACE-naïve (T-N) participants.
Materials And Methods: In this prospective, observational study, 262 adult participants with HCC were divided into TACE+ (n = 93, 35%) or T-N (n = 169, 65%) groups, included from 36 centers in the United States. Overall survival (OS) was assessed using Kaplan-Meier analysis from the date of TARE.
Article Synopsis
- NR2F2 (also known as COUP-TF2) is a transcription factor crucial for mammalian development, with rare variants linked to conditions like congenital heart disease (CHD) and congenital diaphragmatic hernia (CDH).
- This study reviews 17 new cases of individuals with heterozygous NR2F2 variants, confirming variability in clinical features, such as intrauterine growth restriction, heart defects, developmental delays, and various congenital anomalies.
- The findings showcase the need for better characterization of the phenotypic range associated with NR2F2 variants and potential clinical guidelines for diagnosis and evaluation.
Article Synopsis
- * A study involved 356 participants, using advanced DNA sequencing techniques on cells from lymphatic fluid, which revealed genetic variations in a significant percentage of participants with primary complex lymphatic anomalies (pCLAs) and other vascular malformations.
- * This research resulted in a molecular diagnosis for many participants, enabling new medical therapies for 63% of those affected, highlighting the potential of liquid biopsy techniques in diagnosing and treating vascular anomalies.