A Case of Sotos Syndrome in a Preterm Infant with Severe Bronchopulmonary Dysplasia and Congenital Heart Disease.

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of Sotos syndrome in a preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance.

Reference Values for Point-of-Care Echocardiographic Measurements of Preterm Infants in China.

Background: Few studies have examined the reference value of the left ventricular structure and function in preterm infants. This study was designed to establish a point-of-care echocardiographic reference range of left ventricular structure and function based on different gestational age, weight, and body surface area (BSA) for preterm infants within 7 days after birth.

Methods: We retrospectively studied 489 patients with traditional echocardiographic data of left ventricular (LV) M-mode: LV end diastolic dimensions (LVED), LV end systolic dimension (LVES), end-diastolic interventricular septal thickness (IVSd), end diastolic LV posterior wall thickness (LVPWd), left atrial (LA) and aortic root (AO) diameters, and index of LA/AO, LV ejection fraction (LVEF), LV fractional shortening (LVFS), and pulsed wave Doppler: aortic valve flow rate (AV), peak mitral valve flow rate E(MV-E), peak mitral valve flow rate A(MV-A), and MV-E/A.

[A clinical analysis of pericardial effusion caused by central venous catheterization in preterm infants].

Objective: To study the clinical features of pericardial effusion caused by central venous catheterization in preterm infants.

Methods: A retrospective analysis was performed on 11 preterm infants with pericardial effusion caused by central venous catheterization. Their catheterization features, manifestations, treatment, and prognosis were analyzed.

[A clinical analysis of neonatal chylous effusions].

Objective: To study the clinical features, etiology, treatment, and prognosis of neonatal chylous effusions.

Methods: A retrospective analysis was performed for the clinical data of 21 neonates with chylous effusions.

Results: Among these 21 neonates, 13 had chylothorax, 2 had chyloperitoneum, 2 had chylopericardium, and 4 had chylous polyserositis.

[Clinical characteristics and cardiac hemodynamic changes of patent ductus ateriosus in preterm infants].

Objective: To study clinical characteristics and evaluate cardiac hemodynamic changes in premature infants with patent ductus ateriosus (PDA).

Method: One hundred and five infants born at ≤ 34 weeks' gestational age (GA) and ≤2 000 g birth weight (BW) were prospectively enrolled, including 63 males and 42 females, and the mean GA was (31. 1 ± 1.

[Interleukin-10 receptor mutations in children with neonatal onset inflammatory bowel disease: genetic diagnosis and pathogenesis].

Objective: To explore use of interleukin-10 receptor (IL-10R) gene mutation in diagnosis and pathogenesis of neonatal inflammatory bowel disease (IBD) in 2 suspected cases.

Method: Two cases of sibling brothers who had suspected IBD from Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University during the year 2010-2014 were enrolled in the study. The proband, male, 26 days old, weight 3.