The application value of lung ultrasound findings in preterm infants with bronchopulmonary dysplasia.

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) =0.57; 95% confidence interval (CI): 0.42-0.77, P=0.0002], birthweight (OR =0.99; 95% CI: 0.99-1.00, P<0.0001), mild asphyxia (OR =3.3; 95% CI: 1.24-8.74, P=0.0165), anemia (OR =4.43; 95% CI: 1.34-14.64, P=0.0146), blood transfusion (OR =3.68; 95% CI: 1.38-9.79, P=0.0090), respiratory failure (OR =6.58; 95% CI: 1.27-34.08, P=0.0486), heart failure (OR =6.58; 95% CI: 1.27-34.08, P=0.0248), and "debris" lung ultrasound findings (OR =21.82; 95% CI: 2.63-181.11, P=0.0043) were correlated with BPD. CONCLUSIONS: BPD-related lung ultrasound findings can be a kind of imaging marker to diagnose BPD.

A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia.

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.

Left Ventricular Energy Loss Assessed by Vector Flow Mapping in Patients with Prediabetes and Type 2 Diabetes Mellitus.

The aim of this study was to assess left ventricular (LV) energy loss (EL) using vector flow mapping in patients with prediabetes (pre-DM) and type 2 diabetes mellitus (DM). Thirty pre-DM patients, 51 DM patients, and 38 controls were studied by transthoracic echocardiography. EL-total, EL-base, EL-mid and EL-apex climaxed at different phases. Compared with controls, pre-DM and DM patients showed increased EL-total during slow ejection, isovolumic relaxation, rapid filling and slow filling (p < 0.05). Similarly, EL-base, EL-mid and EL-apex increased during certain phases. Stepwise multiple regression analysis revealed that the early transmitral valve blood flow velocity E, the late transmitral valve blood flow velocity A, the ratio of E/A, LV peak torsion, diastolic untwisting velocity, vortex circulation and area were independently associated with EL during different phases (all p < 0.05). Our study suggests that LV EL is increased during diastole and certain phases of systole in DM patients compared with controls. The changes in LV vortex and deformation mechanics were correlated with EL.

Early Detection of Left Atrial Energy Loss and Mechanics Abnormalities in Diabetic Patients with Normal Left Atrial Size: A Study Combining Vector Flow Mapping and Tissue Tracking Echocardiography.

BACKGROUND: Whether 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/METHODS: This 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). RESULTS: The 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 HbA(1c) in the whole study population. CONCLUSIONS: LA 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.