This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.

This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.

Objective:To explore the value of layer-specific strain technique in evaluating the changes of left ventricular myocardial systolic function in patients with aortic stenosis(AS).Methods:From January 2019 to March 2022, 90 AS patients with left ventricular ejection fraction (LVEF) ≥ 50% in Hunan Provincial People's Hospital were selected, including 30 mild AS patients, 30 moderate AS patients, and 30 severe AS patients. In addition, 30 health examinees in the same period were selected as the control group. The normal echocardiographic parameters of the control group and the AS groups with different degrees were compared. The global systolic peak longitudinal strain (GLS) and global circumferential strain (GCS) of the left ventricular three-layer myocardium were measured by the layer-specific strain technique, and the correlation between the strain parameters and the peak systolic velocity (Vmax) of the aortic valve was analyzed.Results:The levels of interventricular septal depth (IVSD), left ventricular posterior wall depth (LVPWD), mean pressure gradient (MPG), and Vmax in mild, moderate and severe AS group were higher than those in the control group (all P<0.05); the GLS of each layer of left ventricle in mild, moderate and severe AS group was lower than those in control group (all P<0.05); the GCS of each layer of left ventricle in moderate and severe AS group was lower than those in control group (all P<0.05). The GLS of left ventricular endocardium in moderate AS group was lower than those in mild AS group (all P<0.05); the GLS and GCS of left ventricular layers in severe AS group were lower than those in mild and moderate AS group (all P<0.05). In AS group, GLS and GCS in endocardium, middle layer and epicardium were negatively correlated with Vmax ( r=-0.716, -0.660, -0.669, P<0.001; r=-0.669, -0.686, -0.598, P<0.001). Conclusions:The layer-specific strain can reflect the changes of left ventricular myocardial function in patients with AS, and has certain application value.

Objective:To observe influence of alprostadil injection on contrast-induced nephropathy (CIN) in high risk patients after percutaneous coronary intervention (PCI).Methods: A total of 263 CIN high risk (CIN risk score ≥16 scores) patients were selected.According to random number table, patients were randomly divided into routine treatment group (n=121, received routine hydration therapy) and alprostadil group (n=142, received additional alprostadil injection based on routine treatment group).Serum creatinine (SCr), glomerular filtration rate(GFR), cystatin C (CysC) and β trace protein (β-TP) level before, 48h and 72h after PCI were measured and compared, and incidence rate of CIN, percentage of blood purification therapy and mortality were compared between two groups.Results: Compared with before PCI, there was significant rise in SCr level and significant reduction in GFR in both groups on 48h and 72h after PCI (P<0.01 all);Compared with routine treatment group, there were significant reductions in levels of SCr [72h: (190.04±28.92) μmol/L vs.(141.10±21.18) μmol/L], and significant rise in GFR [72h: (26.0±4.4) ml/min vs.(36.4±4.9) ml/min], and levels of CysC[72h: (1.75±0.74) mg/L vs.(1.47±0.55) mg/L] and β-TP [72h: (1.53±0.50) mg/L vs.(1.22±0.38) mg/L] significantly decreased in alprostadil group on 48h and 72h after PCI, P<0.05 or <0.01;there were significant reductions in incidence rate of CIN (30.6% vs.18.3%) and percentage of blood purification therapy (10.7% vs.3.5%) in alprostadil group, P=0.001, 0.045 respectively.There was no significant difference in mortality between two groups, P=0.728.Conclusion: Alprostadil injection can significantly improve kidney function, reduce incidence rate of CIN and percentage of blood purification therapy in CIN high risk patients after PCI, which is worth extending.