Early-onset Marfan syndrome (eoMFS) is a rare subset of Marfan syndrome with varying phenotypic expression that occurs in the neonatal and infantile periods. eoMFS has a poor prognosis associated with high rates of mortality. Most newborn eoMFS patients present early onset heart failure that is resistant to treatment. This study presents a case of eoMFS.

Objective: We explored the usefulness of speckle-tracking imaging (STI) to assess cardiac function in fetal congenital heart disease in the early second trimester. Method: A total of 152 pregnant women with a singleton pregnancy who underwent early fetal echocardiography at the ultrasound department of our hospital were randomly selected. There were 40 fetuses with congenital heart disease (case group) and 112 healthy fetuses (control group). STI was performed in both groups to measure fetal left ventricular (LV) and right ventricular (RV) endocardial-myocardial global longitudinal strain (GLSendo), time to peak longitudinal strain (TTPS), fractional area change (FAC), and LV ejection fraction (LVEF). These parameters were compared between the two groups, and correlation analyses were performed. Results: There were no significant differences in fetal LVEF and RVFAC between the case and control groups. The LV GLSendo and RV GLSendo were lower in the case group ( P < 0.05). The LV TTPS and RV TTPS were negatively correlated with fetal heart rate in both groups.After heart rate correction, the TTPS in the case group was longer than in the control group. Conclusion: STI may be useful to quantitatively evaluate fetal myocardial deformation and function in the early second trimester.

Pseudomonas aeruginosa (P. aeruginosa) is a gram-negative aerobic bacterium, which is rarely seen in community-acquired infection. Attention should be paid to its high mortality and invasive progress. X-linked hyper-IgM syndrome (XHIGM; HIGM1; OMIM:308230) is one type of primary immunodeficiency disease (PIDs), characterized by markedly decreased serum IgG, IgA, and IgE levels and normal or elevated serum IgM levels. We report a patient who developed a particularly severe community-acquired P. aeruginosa pneumonia-related septic shock, and a delayed diagnosis of X-linked hyper IgM syndrome was made by genome sequencing. Fatal community-acquired P. aeruginosa infections in children, including previously healthy children, should be considered to search for underlying PIDs by exome/genome sequencing.

Wheezing is often occurred in infants and young children with respiratory infections. For children with recurrent wheezing, after controlling their wheezing, they should be alert to rare diseases. Here, We report a case of wheezing following the application of the patent ductus arteriosus occlusion device ADOII (AGA Medical Corporation, Golden Valley,MN) with the occlusion device pressing against the inner diameter of the adjacent left main bronchus. After the pressure end of the occluder was removed, the child’s wheezing was effectively relieved

Methods The study included 59 patients with normal fetal heart structure, blood flow, and heart rhythm (fetal abnormality-negative group) and 50 patients with abnormal fetal heart structure, blood flow, and/or heart rhythm (fetal abnormality-positive group). aCMQ was performed in both groups to obtain left and right ventricular endocardial global longitudinal strain (GLSendo), mid-myocardial global longitudinal strain (GLSmid), and epicardial global longitudinal strain (GLSepi). Parameters between the two groups were compared and correlation analyses performed. A deformation analysis was performed by two trained observers, and reproducibility was assessed. Results The fetal left ventricular and right ventricular global longitudinal strain (LV-GLS and RV-GLS, respectively) decreased in a gradient from the endocardium to the epicardium. LV-GLS and RV-GLS of all myocardial layers were lower in the fetal abnormality-positive than -negative group (all P<0.05). Correlation analysis showed that neither LV-GLS nor RV-GLS was significantly correlated with gestational age in the fetal abnormality-negative group (all P>0.05), whereas left ventricular GLSendo, GLSmid, and GLSepi were negatively correlated with gestational age in the fetal abnormality-positive group (r=−0.39 to −0.44, all P<0.05). Repeatability testing showed that the inter-observer and intra-observer intraclass correlation coefficients for LV-GLS and RV-GLS in each myocardial layer were >0.75 (all P<0.001). Conclusions As a new speckle tracking echocardiography tool, aCMQ has feasibility and repeatability in evaluating myocardial deformation of the fetal ventricle. This technique might provide helpful information on ventricular myocardial deformation in fetal hearts with abnormal structure or rhythm for clinical guidance in pregnancy.

We report what apprears to be the first case of fetal noncompaction cardiomyopathy in both ventricles accompanied by a mutation in the calmodulin gene (CALM2): A 25-year-old woman was referred to our hospital at 25+1 weeks of gestation for evaluation of fetal defects. A postnatal echocardiography showed biventricular noncompaction cardiomyopathy. After terminated the pregnancy, fetal noncompaction cardiomyopathy was comfirmed by autopsy and histopathologic examination. And the whole-exome sequencing of genomic DNA demonstrated a de novo heterozygous mutation (c.389A>G;p.D130G) in CALM2, whereas the parents were normal. In this case report, we highlight the gene mutation in noncompaction cardiomyopathy.

Background: Evidence suggests controversial results based on the antibacterial and anti-inflammatory effects of azithromycin (AZI) in the treatment of childhood asthma. This study was to further evaluate the efficacy and safety of AZI in childhood asthma. Methods: We searched PubMed, Embase (via Ovid), Cochrane Library, China National Knowledge Infrastructure, Chinese Scientific Journals database, WANFANG, and Chinese Biomedical Literature database from inception to November 11, 2020. Randomized controlled trials (RCTs) of AZI versus placebo or one positive control drug, AZI plus anti-asthma drugs (AADs) versus the same AADs, and AZI plus AADs versus placebo or one positive control drug plus the same AADs were included. Primary outcomes were number of exacerbations (NoE); score of clinical tools to assess asthma control after treatment; number of days to relieve symptoms with β2 agonist (DBA); post-treatment lung function indicators, including FEV1% of predicted value (pFEV1%), FVC% of predicted value (pFVC%), FEV1/FVC% of predicted value (pFEV1/FVC%), and PEF% of predicted value (pPEF%). Secondary outcomes were post-treatment fractional exhaled nitric oxide (FENO); post-treatment eosinophil counts in sputum (sEOS) or blood (bEOS); author self-reported outcomes related to asthma (AROs); and adverse events (AEs). Results: 61 eligible reports from 59 studies were finally included. AZI plus AADs shows no statistically significant difference in NoE (RR = 0.49; 95% CI, 0.07 – 3.26; P = 0.05) and sEOS (MD = -1.13%; 95% CI, -3.54% – 1.29%; P = 0.36) compared to AADs alone. The post-treatment C-ACT score was improved after AZI plus salmeterol and fluticasone (SF) treatment compared to SF alone (MD = 2.97; 95% CI, 2.39 – 3.54; P < 0.001). Results from three studies which could not be meta-analyzed showed that AZI may reduce DBA compared to placebo. AZI combined with AADs could improve post-treatment pFEV1% (AZI + glucocorticoid (GC) vs GC: MD = 6.92%; 95% CI, 1.47% – 12.37%; P = 0.01. AZI + leukotriene receptor antagonist (LTRA) vs LTRA: MD = 24.88%; 95% CI, 21.47% – 28.29%; P < 0.001. AZI + GC + BA vs GC + BA: MD = 12.40%; 95% CI, 9.72% – 15.08%; P < 0.001), pFEV1/FVC% (AZI + GC vs GC: MD = 10.24%; 95% CI, 6.44% – 14.03%; P < 0.001. AZI + GC + BA vs GC + BA: MD = 9.05%; 95% CI, 5.66% – 12.44%; P < 0.001. AZI + BA vs LTRA + BA: MD = 14.48%; 95% CI, 11.84% – 17.12%; P < 0.001), and pPEF% (MD = 7.00%, 95% CI, 2.53% – 11.47%; P = 0.002), but not improve pFVC% (MD = -10.37; 95% CI, -20.86% – 0.12%; P = 0.05), compared to AADs alone. Post-treatment bEOS was significantly higher in the AZI group than in the traditional Chinese medicine compound granules group (MD = 0.07×109/L; 95% CI, 0.05×109 – 0.09×109; P < 0.001). No statistically significant difference in bEOS after treatment with AZI plus montelukast (MON) and loratadine (LOR) compared to MON and LOR (MD = 0.03×109/L; 95% CI, -0.06×109 – 0.12×109; P = 0.50). Meanwhile, AZI combined with AADs did not increase AEs (RR = 0.76; 95% CI, 0.51 – 1.13; P = 0.17). Conclusions: AZI was beneficial in improving some clinical symptoms and lung functions in childhood asthma. AZI did not increase AEs when combined with AADs.