Background: The purpose of this study was to investigate the association between ultrasound findings and preterm infants with bronchopulmonary dysplasia (BPD).Methods: Preterm infants with a gestation age of less than 28 weeks or birthweight less than 1,500 g admitted to the neonatal intensive care unit (NICU) in the Chengdu Women's & Children's Central Hospital from June 2018 to June 2019 were enrolled in the study and divided into 2 groups: the BPD group and the non-BPD group. All clinical data and lung ultrasound were retrospectively analyzed.Results: A total of 81 neonates (gestational age =29.71±2.27 weeks; birth weight =1,189.5±184.5 g) were enrolled in our center. The regression analysis showed that gestational age [odds ratio (OR) =0.
BackgroundWhether left atrial (LA) functional abnormalities already exist when the LA is of normal size is unknown. The aim of this study was to explore LA energy loss and mechanics changes using vector flow mapping (VFM) and two-dimensional tissue tracking (2DTT) echocardiography in patients with diabetes and normal LA size.Material/MethodsThis study included 47 normotensive patients with diabetes and 45 controls. The following indexes were measured: LA energy loss during systole (LAELs), early diastole (LAELed), and atrial contraction (LAELac); atrial longitudinal strain during systole (SLAs), early diastole (SLAed) and late diastole (SLAac); and peak LA strain rate during systole (SRLAs), early diastole (SRLAed), and atrial contraction (SRLAac).ResultsThe LAELs and LAELed decreased in diabetic patients compared with controls (P=0.002, P<0.01, respectively), whereas the LAELac increased in diabetic patients (P<0.001). The SLAs, SLAed, SRLAs, and SRLAed (all P<0.01) were all lower in diabetic patients than in controls. However, there was no difference in the SLAac and SRLAac between the two groups. Multivariate regression analysis showed that the LAELs, LAELac, and SRLAs were independently associated with HbA1c in the whole study population.ConclusionsLA energy loss and deformation mechanics are already impaired in diabetic patients with normal LA size and the long-term parameter of glycemic control was correlated with them. VFM combined with 2DTT might be a promising tool for the early detection of LA dysfunction caused by impaired glucose metabolism.
Pseudoachondroplasia (PSACH) is a rare and severe genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. Currently, the diagnosis of PSACH is based mainly on family history, physical examination and radiographic evaluation. Genetic studies of patients with PSACH in Chinese populations have been very limited. With the application of next-generation sequencing (NGS), a comprehensive molecular diagnosis of PSACH is now possible. The purpose of this study was to perform comprehensive NGS-based molecular diagnoses for patients with PSACH in China. We investigated the molecular genetics of one suspected PSACH family in this study. The DNA sample from the proband was sequenced using a custom capture panel that included 249 bone disease genes. Variant calls were filtered and annotated using an in-house automated pipeline. Then, we confirmed the variants by Sanger sequencing in three family members. After co-segregation analysis, the variant, c.1160_1162del of the COMP gene, was identified as a novel mutation responsible for this spontaneous form of PSACH.
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