Congenital heart defects in monochorionic twin pregnancy complicated by selective fetal growth restriction.

OBJECTIVES: To evaluate the prevalence, subtypes and postnatal outcomes of congenital heart defects (CHD) in a cohort of monochorionic diamniotic (MCDA) twin pregnancies complicated by selective fetal growth restriction (sFGR), and to compare this population with a cohort of uncomplicated MCDA pregnancies evaluated during the same period. METHODS: This was a retrospective analysis of all consecutive MCDA pregnancies referred between 2009 and 2018, including those complicated by sFGR (Group A) and those without complications (Group B). All neonates delivered in our center were screened for CHD before discharge. Discharge letters for all those delivered elsewhere were retrieved. Pregnancies with complications other than sFGR and those without perinatal follow-up were excluded. Pregnancies in Group A were divided into three types according to the Gratacós system of sFGR classification. RESULTS: A total of 870 MCDA twin pregnancies were included: 296 in Group A and 574 in Group B. In Group A, the prevalence of CHD was 3.7% (22/592 twins), with no significant difference in CHD frequency between the three types of sFGR (Type I, 3.7%; Type II, 3.2%; Type III, 4.2%; P = 0.55). Of four Type-III sFGR pregnancies with CHD, one had pulmonary stenosis (PS) in the larger twin and isolated coarctation of the aorta in the smaller cotwin, and three had PS in the larger twin only. No Type-III sFGR pregnancies in which only the smaller twin was affected by CHD were observed. Of 11 CHD cases in the larger twin, 10 (91%) were right ventricular outflow tract abnormalities (RVOTA), and one (9%) was a ventricular septal defect. In the smaller twins, 11 cases of CHD were observed, covering a broad spectrum of cardiac abnormalities. In Group B, the CHD prevalence was 1.1% (13/1148 twins), which was similar to that in the general population, according to the EUROCAT registry for the same period and geographical area of the study (0.96%; P = 0.579). The CHD prevalence was significantly higher in Group A compared with Group B (3.7% vs 1.1%; P = 0.0002; odds ratio, 3.57 (95% CI, 1.78-7.22)). In all pregnancies with CHD in the study population, the anomaly was discordant. CONCLUSIONS: In MCDA twin pregnancy, sFGR was associated with a three-fold higher prevalence of CHD. Women with such pregnancies should be referred to a tertiary care hospital for pre- and postnatal cardiac evaluation, treatment and long-term follow-up. In larger twins, the only major CHD observed was RVOTA, while a broad spectrum of CHD was noted in smaller twins. The higher risk of CHD in MCDA pregnancies appears to be due to the typical complications of the monochorionic pregnancy, rather than to the monochorionic nature of the pregnancy itself. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Non-thyroidal illness syndrome and SARS-CoV-2-associated multisystem inflammatory syndrome in children.

PURPOSE: COVID-19 disease may result in a severe multisystem inflammatory syndrome in children (MIS-C), which in turn may alter thyroid function (TF). We assessed TF in MIS-C, evaluating its impact on disease severity. METHODS: We retrospectively considered children admitted with MIS-C to a single pediatric hospital in Milan (November 2019-January 2021). Non-thyroidal illness syndrome (NTIS) was defined as any abnormality in TF tests (FT3, FT4, TSH) in the presence of critical illness and absence of a pre-existing hormonal abnormality. We devised a disease severity score by combining severity scores for each organ involved. Glucose and lipid profiles were also considered. A principal component analysis (PCA) was performed, to characterize the mutual association patterns between TF and disease severity. RESULTS: Of 26 (19 M/7F) patients, median age 10.7 (IQR 5.8-13.3) years, 23 (88.4%) presented with NTIS. A low FT3 level was noted in 15/23 (65.3%), while the other subjects had varying combinations of hormone abnormalities (8/23, 34.7%). Mutually correlated variables related to organ damage and inflammation were represented in the first dimension (PC1) of the PCA. FT3, FT4 and total cholesterol were positively correlated and characterized the second axis (PC2). The third axis (PC3) was characterized by the association of triglycerides, TyG index and HDL cholesterol. TF appeared to be related to lipemic and peripheral insulin resistance profiles. A possible association between catabolic components and severity score was also noted. CONCLUSIONS: A low FT3 level is common among MIS-C. TF may be useful to define the impact of MIS-C on children's health and help delineate long term follow-up management and prognosis.

Genetic epistasis between killer immunoglobulin-like receptors and human leukocyte antigens in Kawasaki disease susceptibility.

Kawasaki disease (KD) is a pediatric acute multisystemic vasculitis complicated by development of coronary artery lesions. The breakthrough theory on KD etiopathogenesis points to pathogens/environmental factors triggered by northeastern wind coming from China. Natural Killer cells and T lymphocytes express the inhibitory/activating Killer Immunoglobulin-like Receptors (KIR) to elicit an immune response against pathogens by binding to human leukocyte antigens (HLA) class I epitopes. We first report on the role of KIR/HLA genetic epistasis in a sample of 100 Italian KD children. We genotyped KIR, HLA-A, HLA-B and HLA-C polymorphisms, and compared KD data with those from 270 Italian healthy donors. The HLA-A*11 ligand for KIR2DS2/2DS4/3DL2 was a KD susceptibility marker by itself (odds ratio (OR)=3.85, confidence interval (CI)=1.55-9.53, P=0.004). Although no epistasis between HLA-A*11 and KIR2DS2/S4 emerged, HLA-A*11 also engages KIR3DL2, a framework gene encoding for a pathogen sensor of CpG-oligodeoxynucleotides (CpG-ODN), and KD blood mononuclear cells are actually prone to pathogen CpG-ODN activation in the acute phase. Moreover, carriers of KIR2DS2/HLA-C1 and KIR2DL2/HLA-C1 were more frequent among KD, in keeping with data demonstrating the involvement of these HLA/KIR couples in autoimmune endothelial damage. The highest KD risk factor was observed among carriers of KIR2DL2 and two or more HLA ligands (OR=10.24, CI=1.87-56.28; P=0.007).

Hemodynamic management of the preterm infant with acute respiratory failure: role of the functional echocardiography.

The functional echocardiography is a useful tool to evaluate the hemodynamic status of preterm infants, often needing a respiratory support during the first critical days of life. In NICU it can be helpful either for the clinical monitoring or the therapeutic management and the use of this technique can potentially improve short-term outcome of preterm infants.

Variation of B-type natriuretic peptide concentrations and intrauterine growth restriction: mother, fetus and newborn.

To evaluate maternal, fetal, neonatal B-type natriuretic peptide (BNP) concentrations related to Intra Uterine Growth Restriction (IUGR). BNP concentrations in 43 IUGR and 35 healthy, Appropriate for Gestational Age (AGA) infants/paired mothers have been compared, from delivery/birth to first month of life. Maternal and IUGR cord BNP concentrations were coupled to fetal ultrasonography. Neonatal echocardiography was performed too. On delivery BNP was higher in all IUGR mothers, suffering or not from gestational hypertension, than in AGA (median 37.14 vs 11.1 pg/ml p=0.002). Maternal BNP was not associated to cord/neonatal BNP or fetal ultrasonographic parameters. Cord BNP was higher in IUGR than AGA newborns (median 23.9 vs 11.4 pg/ml p=0.0007) independently of gestational age, while varied with amniotic fluid (p=0.0044) and umbilical artery flowmetry (p=0.0121). Earlier drop of BNP on day 3 was reported in IUGR neonates (p=0.0001).Ventricular mass change/body weight varied positively in AGA newborns (p<0.001), while declined in IUGR ones (p=0.003). Carrying IUGR fetus is a stress factor resulting in high maternal BNP concentration. Altered fetal ultrasonographic parameters in IUGR newborns lead to higher BNP cord levels. A rapid BNP drop and probable ventricular mass adjustment of IUGR newborns may indicate earlier post-natal cardiovascular adaptation than AGA infants.

In vitro and in vivo determination of antioxidant activity and mode of action of isoquercitrin and Hyptis fasciculata.

Reactive oxygen species (ROS) are thought to underline the process of ageing and the pathogenicity of various diseases, such as neurodegenerative disorders and cancer. The use of traditional medicine is widespread and plants still present a large source of natural antioxidants that might serve as leads for the development of novel drugs. In this paper, the alcoholic extract from leaves of Hyptis fasciculata, a Brazilian medicinal plant, and isoquercitrin, a flavonoid identified in this species, showed to be active as 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical scavengers. The extract of Hyptis fasciculata and isoquercitrin were also able to increase tolerance of the eukaryotic microorganism Saccharomyces cerevisiae to both hydrogen peroxide and menadione, a source of superoxide. Cellular protection was correlated with a decrease in oxidative stress markers, such as levels of ROS, protein carbonylation and lipid peroxidation, confirming the antioxidant potential of Hyptis fasciculata and isoquercitrin.

Neonatal lupus: fetal myocarditis progressing to atrioventricular block in triplets.

We report a case of neonatal lupus syndrome (NLS) in an in vitro fertilization induced triplet pregnancy. Echocardiographic signs of myocarditis were evident at the 21st week of gestation (w.g.) in twin I, with a subsequent development of a complete atrioventricular (AV) block at the 25th w.g.; twin III also displayed echocardiographic signs of myocarditis at the same time. Treatment with dexamethasone (4mg/day) was started at the 25th w.g. A complete echocardiographic regression of the myocarditis signs was achieved, while AV block was unaffected. Caesarian section was performed at the 31.5 w.g. after a premature rupture of the membranes. Complete AV block was confirmed in twin I with a heart rate of 51 beats/min that required a pacemaker implant 40 days after. Twin III developed a first-degree AV block that switched to a periodic second-degree block later, while twin II displayed only liver enzyme abnormalities.

Magnesium sulfate as a vehicle for nebulized salbutamol in acute asthma.

PURPOSE: Magnesium sulfate is thought to be an effective bronchodilator when administered intravenously to patients with acute severe asthma, and it can be safely administered via inhalation to patients with stable asthma. Our goal was to determine if isotonic magnesium sulfate could be used as a vehicle for nebulized salbutamol for patients with acute asthma. METHODS: We enrolled 35 patients with acute asthma in a randomized, double-blind, controlled trial. After measurement of peak expiratory flow, patients received 2.5 mg salbutamol plus either 3 mL normal saline solution (n = 16) or isotonic magnesium sulfate (n = 19) through a jet nebulizer. Peak flow was reassessed 10 and 20 minutes after treatment. RESULTS: Peak flow at baseline was similar in the two groups. Ten minutes after baseline, the mean (+/- SD) percentage increase in peak flow was greater in the magnesium sulfate-salbutamol group (61% +/- 45%) than in the normal saline-salbutamol group (31% +/- 28%; difference = 30%; 95% confidence interval [CI] for the difference: 3% to 56%; P = 0.03). At 20 minutes, the percentage increase in peak flow was 57% greater in the magnesium sulfate group (95% CI: 4% to 110%, P = 0.04). There was a significant inverse correlation between baseline peak flow (percent of predicted) and the percentage increase in peak flow at 20 minutes in the magnesium sulfate group (r = -0.82, P <0.0001), but not in the saline group (r = -0.12, P = 0.67). CONCLUSION: In patients with acute asthma, isotonic magnesium sulfate, as a vehicle for nebulized salbutamol, increased the peak flow response to treatment in comparison with salbutamol plus normal saline.

Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.

We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous description of XK syndrome. The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the region from D13S317 to D13S285 and a paternal origin of the anomaly.

[Glioblastoma multiforme: a high-malignancy astrocytoma. Report of a clinical case with sudden onset]. / Glioblastoma multiforme: astrocitoma ad alta malignità. Descrizione di un caso clinico ad esordio improvviso.

We report the case of a child, 11 years old, admitted to our hospital for headache persisting for a week, without any other symptoms. CT scanner was performed, showing an infiltrating lesion of right parietal-temporal lobe. MRI confirmed the diagnosis. The histological examination showed a glioblastoma multiforme. This brain tumor is rare during pediatric age and presents a poor prognosis. The case reported emphasises the importance to give attention to an sudden and persistent headache in children without other symptoms and in a good state of health.

[Echocardiographic diagnosis of total anomalous pulmonary venous return]. / Diagnosi ecocardiografica di ritorno venoso polmonare anomalo totale.

Between March 83 and November 84, 20 patients with TAPVC were studied by cross-sectional echocardiography. The diagnosis was confirmed by catheterization, surgery or autopsy in each case. The anomalous drainage of the pulmonary veins was supracardiac in 10 patients, to the coronary sinus in 5, infracardiac in 4, mixed (supracardiac and infracardiac) in 1. The correct diagnosis was prospectively achieved in 17 patients (85); the echocardiographic examination could not show the precise site of the drainage in 2 (10); in only one patient (5) with right isomerism, double inlet indeterminate ventricle and severe pulmonary stenosis, the diagnosis of TAPVC infracardiac was missed. Seven patients (4 with TAPVC supracardiac, 3 to the coronary sinus) were sent to surgery without preoperative catheterization; the diagnosis was confirmed in all. Cross-sectional echocardiography proved to be a reliable diagnostic tool in the assessment of TAPVC. The patients in which the site of anomalous drainage is clearly identified by echo, can be sent to surgery without invasive investigation.