Background: GALNTs (UDP-GalNAc; polypeptide N-acetylgalactosaminyltransferases) initiate mucin-type O-GalNAc glycosylation by adding N-GalNAc to protein serine/threonine residues. Abnormalities in O-GalNAc glycosylation are involved in various disorders such as Parkinson's disease (PD), a neurodegenerative disorder. GALNT9 is potentially downregulated in PD patients.
View Article and Find Full Text PDFTo investigate noninvasive pressure-strain loop (PSL) combined with two-dimensional speck tracking imaging and left ventricular pressure measurement in the evaluation of cardiac function changes in anemia of prematurity (AOP) with different modes of respiratory support, and to explore its value in detecting subclinical myocardial injury in preterm infants. This retrospective study included 79 preterm infants with anemia, according to different modes of respiratory support, who were divided into invasive respiratory support group (39 cases) and noninvasive respiratory support group (40 cases). A control group of 40 nonanemic preterm infants with matched age, sex, and gestational age were also included.
View Article and Find Full Text PDFObjectives: Congenital pyriform sinus fistula (CPSF) is a rare disease that can be easily misdiagnosed. This study investigates the value of ultrasonography in the early diagnosis and treatment of CPSF in children.
Methods: Clinical features and ultrasonography images of 31 CPSF pediatric patients confirmed by operation were retrospectively analyzed, different sonographic features during the infection period and the quiescence period were summarized and the consistency test of ultrasonic recognition and diagnosis between observers was conducted.
Background: Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin.
Case Presentation: This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities.