Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.

BACKGROUND: Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resulting from SPTB mutation in the Chinese population have been reported so far. CASE PRESENTATION: A 3-year-old Chinese girl presented to Qingdao Women and Children's Hospital, Qingdao University, with atrial septal defect (ASD). Meanwhile, she was clinically diagnosed with HS. Whole genome sequencing (WGS) was performed for the proband and her parents for genetic molecular analysis. A novel SPTB mutation (c.1756delG) was detected by WGS and confirmed by Sanger sequencing in the proband. This mutation results in a frameshift with a premature termination codon in exon 12, leading to a nonsense mutation (p.Ala586Profs*7). Her parents had no similar symptoms, and blood routine and serum biochemical tests showed no significant abnormalities. The patient's mother did not know of any relatives with HS-like symptoms. Percutaneous transcatheter closure was successfully performed for treating the ASD. CONCLUSION: In this study, we identified a novel SPTB frameshift mutation in a Chinese girl with HS. This finding would expand the spectrum of SPTB mutations, provide a valuable insight into the genotyping of HS in the Chinese population, and contribute to the clinical management and genetic counseling in HS.

The relationship between endothelial progenitor cells and pulmonary arterial hypertension in children with congenital heart disease.

BACKGROUND: Pulmonary arterial hypertension (PAH) caused by congenital heart disease (CHD) is very common in clinics. Some studies have shown that PAH is related to the number of endothelial progenitor cells (EPCs), but there is no report on the relationship between PAH and the number of EPCs in children with CHD. METHODS: In this study, a total of 173 cases with CHD (from 0 to 6 years old) were collected. According to the mean pulmonary arterial pressure (mPAP) measured by right heart catheterization, these cases were divided into PAH groups (including high PAH group, mPAP> 25 mmHg, n = 32, and the middle PAH group, 20 mmHg ≤ mPAP≤25 mmHg, n = 30) and non-PAH group (mPAP< 20 mmHg, n = 111). Peripheral blood was taken for flow cytometry, and the number of EPCs (CD133+/KDR+ cells) was counted. The number of EPCs /µL of peripheral blood was calculated using the following formula: EPCs /µL = WBC /L × lymphocytes % × EPCs % × 10- 6. RESULTS: The median EPCs of the non-PAH group, middle PAH group and high PAH group is 1.86/µL, 1.30 /µL and 0.98/µL, respectively. The mPAP decreases steadily as the level of EPCs increases (P < 0.05). After adjustment of gender, age and BMI, the number of EPCs was significantly associated with a decreased risk of high PAH (OR = 0.37, 95% CI: 0.16-0.87, P < 0.05). However, EPCs was not significantly associated with middle PAH (P > 0.05). CONCLUSION: The findings revealed that the EPCs and high PAH in patients with CHD correlate significantly and EPCs may become an effective treatment for PAH in patients with CHD. EPCs may be a protective factor of high PAH for children with CHD.

The transcriptional regulation of an antimicrobial peptide hepcidin1 in Oryzias melastigma upon EE2 exposure involved in a new pathway with a novel transcriptional regulatory element HepERE.

17α-ethinylestradiol (EE2) exerts endocrine disrupting effect and immunotoxic effect on marine animals, including modulation of hepcidin expression. The antimicrobial peptide hepcidin displays a crucial role in innate immunity in fish against invading pathogens. It is known that the transcription of hepcidin in mammals is individually regulated by many stimuli, including inflammation, iron overload, anemia or hypoxia, through several distinct molecular pathways. The canonical mechanism for endocrine disrupting effects is mediated by an estrogen receptor (ER) and estrogen responsive element (ERE), whereas the underlying mechanism for immunotoxic effect is still unclear. In this study, a hepcidin from Oryzias melastigma (OM-hep1) was found to be down-regulated upon EE2 exposure and was associated with ERα. Unlike the revealed signaling pathways for hepcidin regulation in mammals, it was revealed by promoter activity analysis that the OM-hep1 transcription was not associated with canonical immune-associated and hormone-associated regulatory elements, known as the nuclear factor κB (NF-κB), signal transducer and activator of transcription 3 (STAT3), ERE and estrogen-related receptor responsive element (ERRE). Further analysis through a series of base mutations revealed a short fragment from -315 to -289 bp on the OM-hep1 promoter with high activity. This fragment was composed of a putative ERE-like element (23 bases) plus an adjacent down-streamed four bases motif GTGT. Replacement of either of the core bases (GGTCA) of ERE-like or GTGT motif showed non-activity and non-response to EE2 exposure, thus a new hepcidin-associated element named as HepERE was revealed. Evidences from electrophoretic mobility shift assay (EMSA) and surface plasmon resonance (SPR) assay demonstrated that the EE2-mediated down-regulation of OM-hep1 expression was associated with ERα binding to HepERE but not classical ERE. Taken together, a novel signaling pathway was revealed and the regulatory mechanism associated with the ERα and HepERE element on immunomodulation of OM-hep1 expression upon EE2 exposure was first reported here.

The complete mitochondrial genome of Anidiocerus bimaculatus Zhang, Li & Qi, 2008 (Hemiptera: Cicadellidae: Eurymelinae: Idiocerini).

In this study, the complete mitochondrial genome of Anidiocerus bimaculatus was sequenced and annotated for the first time, which belongs to the subfamily Eurymelinae. The mitogenome of A. bimaculatus was 15,267 bp in length and contained 13 protein-coding genes (PCGs), 22 transfer RNA genes (tRNAs), two ribosomal RNA genes (rRNAs), and one non-coding control region. In this mitogenome, all the PCGs are initially encoded by ATT, ATA, ATG, or TTG, and terminated by TAA, or single T. The overall base composition of A. bimaculatus is 43.6% adenines, 36.0% thymines, 9.1% guanines, and 11.3% cytosines. ML phylogenetic analyses confirmed that Idiocerini forms a monophyletic clade and the newly sequenced A. bimaculatus clustered within the Idiocerini clade based on 13 protein-coding genes and two rRNA genes.

Failure mechanism and bearing force of CFRP strengthened square hollow section under compressive load.

Carbon fibre-reinforced polymer (CFRP) plates can efficiently repair or enhance the mechanical properties of the square hollow section. However, the loading end of such a CFRP-strengthened member is prone to local bearing failure under compressive load. Given this limitation, an innovative CFRP-plate-strengthened square hollow section composite member (CFRP-SHSCM) was raised, and the thick-walled section was welded on both ends of the thin-walled steel column. The mechanical properties of CFRP-SHSCMs were investigated through parameter finite element (FE) analysis, focusing on the influence of the amount of CFRP layers (nc), the slenderness ratio (λ), the initial geometric imperfections (v0), the CFRP layouts (2S and 4S) and the length of the exposed steel column (Le). The load-displacement curves, the bearing force, and typical failure modes were also acquired. Results indicated that with increasing nc and v0, and decreasing λ, the conventional CFRP-SHSCMs were prone to local bearing failure with poor ductility, leading to the insufficient use of the CFRP plate, in contrast, the improved CFRP-SHSCMs primarily underwent overall buckling failure and exhibited better bearing force and ductility. Finally, the modified Perry-Robertson formula was put forward to predict the ultimate load of the CFRP-SHSCMs. The coefficients of variation between the FE simulation and the theoretical results were 0.00436 and 0.0292, respectively.

[Comparison of I Care rebound tonometer and Goldmann applanation tonometer after Descemet's stripping with automated endothelium keratoplasty].

OBJECTIVE: To evaluate the influence of corneal thickness (CT) on the intraocular pressure (IOP) measurements, the agreement of IOP readings with I Care rebound tonometer (RBT) and Goldmann applanation tonometer (GAT), and the agreement of central and peripheral IOP values obtained by RBT. METHODS: Thirty-seven eyes of 34 patients after Descemet's stripping with automated endothelium keratoplasty (DSAEK) underwent CT measurement using anterior segment OCT (AS-OCT) followed by IOP evaluation with the GAT at corneal center and with the RBT at corneal center and at 1 mm from the limbus in the nasal and temporal directions. The mean IOP measurement by the RBT and measurement by the GAT were analysed by paired t test. Pearson correlation analysis were performed to assess the correlations between the measurement and the influence of CT on IOP values. Agreement between the tonometers was calculated using the Bland-Altman method. RESULTS: IOP obtained by GAT was (16.2 ± 4.7) mm Hg (1 mm Hg = 0.133 kPa), and IOP obtained from central cornea, nasal cornea and temporal cornea by RBT were (16.0 ± 5.3) mm Hg, (17.4 ± 5.0) mm Hg and (17.1 ± 5.0) mm Hg, respectively. There was no statistical difference between the IOP on central cornea obtained by GAT and RBT (t = 0.77, P = 0.446), IOP on the peripheral cornea were higher than on central cornea by RBT (t = 3.24, 3.17, P = 0.003), and they were positively correlated (r = 0.869, 0.911, P < 0.05). The IOP readings showed positive relationship to CT values. Bland-Altman scatter plots showed reasonable inter-method agreement between each technique of IOP measurements. CONCLUSIONS: After DSAEK, the IOP readings obtained by RBT or GAT show positive relationship to CT values. There are reasonable agreements between each technique of IOP measurements. Considering the special advantages, RBT is an effective method to observe the IOP changes after DSAEK.

[Effects of carbon disulfide exposure during peri-implantation on estrogen receptor-α expression in uterus and serum level of estrogen in pregnant mice].

OBJECTIVE: To evaluate the effects of carbon disulfide (CS(2)) exposure during peri-implantation on the estrogen receptor-α (ER-α) expression in the uterus and serum level of estradiol (E(2)) in pregnant mice, and to explore the mechanism of embryotoxicity of CS(2). METHODS: Healthy female mice were exposed to a single dose of CS(2) (631.4 mg/kg) or olive oil (solvent control) on gestational day (GD)3, GD4, GD5, or GD6. At different time points after exposure, the serum E(2) levels of the pregnant mice were measured by enzyme-linked immunosorbent assay, and the expression levels of ER-α in the uterus were measured by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and Western blot. RESULTS: Compared with the control group, the GD3, GD4, GD5, and GD6 exposure groups showed significantly decreased serum E(2) levels on day 7 of gestation (P < 0.05); the GD3 and GD5 exposure groups showed significantly decreased serum E(2) levels on day 6 of gestation (P < 0.05). The expression level of ER-α in the GD 4 exposure group was 23.6% lower than that in the control group on day 5 of gestation, and the expression level of ER-α in the GD 5 exposure group was 72.9% lower than that in the control group on day 6 of gestation (P < 0.05); the GD 3 and GD 6 exposure groups showed lower expression levels of ER-α than the control group at any time point, but no significant difference was found (P > 0.05). CONCLUSION: CS(2) exposure during peri-implantation can reduce the ER-α expression in the uterus and the serum level of E(2) in pregnant mice, which may be one of the mechanisms of embryotoxicity of CS(2).

[DNA damage of splenic lymphocytes in pregnant mice exposed to carbon disulfide in implantation phase].

OBJECTIVE: To investigate the DNA damage of splenic lymphocytes in pregnant mice exposed to carbon disulfide (CS2) in the implantation phase and to explore the mechanism of abnormal implantation induced by CS2 from the perspective of immune injury. METHODS: Mice were exposed to CS2 at different doses or at different time points in the implantation phase to establish model 1 and model 2. For model 1, mice were assigned to four groups to receive a single intraperitoneal injection of low-dose CS2 (0.1 LD50, 157.8 mg/kg), middle-dose CS2 (0.2 LD50, 315.7 mg/kg), and high-dose CS2 (0.4 LD50, 631.4 mg/kg) as well as an equal volume of olive oil (control) on gestational day (GD) 4. For model 2, mice were assigned to four groups to receive a single intraperitoneal injection of CS2 (0.4 LD50, 631.4 mg/kg) or an equal volume of olive oil (control) on GD3, GD4, GD5, and GD6. At the end, single cell suspension of splenic lymphocytes was prepared. Cell viability was measured by trypan blue staining, and the DNA damage of splenic lymphocytes was evaluated by alkaline single cell gel electrophoresis assay. RESULTS: The middle-dose and high-dose exposure groups showed significantly more DNA damage of splenic lymphocytes than the control group (P < 0.01); there was significant regression relationship between indicators of DNA damage and exposure doses (P < 0.01). The GD3, GD4, GD5, and GD 6 exposure groups showed significantly more DNA damage of splenic lymphocytes than the control group (P < 0.01), and the GD 4 exposure group had the most DNA damage. CONCLUSION: Exposure to CS2 in the implantation phase can induce DNA damage of splenic lymphocytes in pregnant mice, and the DNA damage was aggravated with the increase in CS2 concentration. GD4 may be the sensitive time point for DNA damage of splenic lymphocytes induced by CS2 in pregnant mice.

Sutureless technique combined with vertical vein incision and pulmonary veins unroofed for correction of infracardiac total anomalous pulmonary venous connection.

Objective: We report a surgical method (sutureless technique), combined with vertical vein incision and pulmonary veins unroofed (semisutureless technique), to correct infracardiac total anomalous pulmonary venous connection (TAPVC). Materials and methods: The clinical characteristics of 21 patients, who were diagnosed with infracardiac TAPVS between February 2017 and March 2022, were retrospectively analyzed. These patients were divided into three groups according to different surgical methods: conventional surgery group, sutureless technique group, and semisutureless technique group. The conventional surgery group enrolled five patients with a median age of 16 days (interquartile range, 9-27 days) and a median weight of 3.25 kg (interquartile range, 3.1-3.42 kg). In this group, no preoperative pulmonary vein obstruction (PVO), preoperative ventilator support, or emergency surgery were reported. The sutureless technique group enrolled seven patients with a median age of 12 days (interquartile range, 5-16 days) and a median weight of 3.04 kg (interquartile range, 2.76-3.20 kg). In this group, two patients with preoperative PVO, four patients with preoperative ventilator support, and seven patients requiring emergency operation were found. The semisutureless technique group enrolled nine patients with a median age of 14 days (interquartile range, 7-24 days) and a median weight of 3.22 kg (interquartile range, 3.15-3.50 kg). In this group, four patients with preoperative PVO, two patients with preoperative ventilator support, and seven patients requiring emergency operation were noted. Results: In the conventional surgery group, two patients with postoperative supraventricular tachycardia, one patient with postoperative low cardiac output syndrome, one patient with PVO, and no case of postoperative death were reported. In the sutureless technique group, two patients with postoperative low cardiac output syndrome, one patient with postoperative supraventricular tachycardia, one patient with postoperative PVO, and no postoperative deaths were determined. In the semisutureless technique group, three patients had low cardiac output syndrome, two patients had supraventricular tachycardia after the operation, and one patient, who had been admitted to the hospital after cardiopulmonary resuscitation in the emergency room, died early after the operation. No case of death or PVO was noted after the operation. Conclusion: The semisutureless technique has positive effects. This surgery method can enlarge the anastomotic stoma, increase the volume of the left atrium, reduce the tension of the anastomotic stoma, fix the pulmonary vein to avoid distortion, and prevent postoperative hemorrhage.

Giant right atrium in a child with dilated cardiomyopathy: A case report.

Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure in children with diverse clinical characteristics. To date, DCM with a giant atrium as the first manifestation is rare and has not been reported in previous literature. We report a case of a male infant born with a significantly enlarged right atrium. Due to worsened clinical symptoms and the risk of arrhythmias and thrombosis, we performed the surgical reduction of the right atrium. Unfortunately, DCM and a progressive re-enlargement of the right atrium appeared during midterm follow-up. The mother's echocardiogram also suggested DCM, and the patient was eventually considered for a diagnosis of familial DCM. This case may expand the clinical spectrum of DCM and reminds us of the importance of good follow-up of children with idiopathic dilatation of the right atrium.

Correlative increasing expressions of KIF5b and Nav1.7 in DRG neurons of rats under neuropathic pain conditions.

Nav1.7, one of tetrodotoxin-sensitive voltage-gated sodium channels, mainly expressed in the small diameter dorsal root ganglion (DRG) neurons. The expression and accumulation on neuronal membrane of Nav1.7 increased following peripheral tissue inflammation or nerve injury. However, the mechanisms for membrane accumulation of Nav1.7 remained unclear. We report that KIF5b, a highly expressed member of the kinesin-1 family in DRGs, promoted the translocation of Nav1.7 to the plasma membrane in DRG neurons of the rat. Following nociceptive behaviors in rats induced by peripheral spared nerve injury (SNI), synchronously increased KIF5b and Nav1.7 expressions were observed in DRGs. Immunohistochemistry staining demonstrated the co-expressions of KIF5b and Nav1.7 in the same DRG neurons. Immunoprecipitation experiments further confirmed the interactions between KIF5b and Nav1.7. Moreover, intrathecal injections of KIF5b shRNA moderated the SNI-induced both mechanical and thermal hyperalgesia. The rescued analgesic effects also alleviated SNI-induced anxiety-like behaviors. In sum, KIF5b was required for the membrane localizations of Nav1.7, which suggests a novel mechanism for the trafficking of Nav1.7 involved in neuropathic pain.

Experimental and Analytical Research on Flexural Behavior of Concrete-Filled High-Strength Steel Tubular Members.

Using high-strength steel (yield strength fy ≥ 460 MPa) in concrete-filled steel tubes is expected to provide a superior bearing capacity by achieving light weight and efficient construction, but the existing design limitation on diameter-to-thickness (D/t) ratios for concrete-filled high-strength steel tubular (CFHST) members inevitably obstructs its wide application. In this study, aiming at the application of circular CFHST members using Q690 steel (fy ≥ 690 MPa), a total of 15 CFHST beams were examined using a three-point loading test to investigate the failure mode, bearing capacity and plasticity evolution. Subsequently, finite element models (FEMs) were established to analyze the full-range curves, composite effect, failure mechanism and influences of key parameters including material strengths, D/t ratios, and shear-span ratios. A simplified calculation method for bearing capacity was finally proposed and verified. The results indicate that the full-range performance of tested CFHST members with out-of-code D/t ratios have ductile behavior, though they fail through the mode of steel fracture and concrete cracks in the tension zone as well as through local buckling in the compression zone; out-of-code CFHST members (e.g., D/t = 120) can perform reasonable composite behavior because of contact pressure larger than 2.5 MPa, where a thin-walled steel tube experiences an arch failure mechanism similar to core concrete at a trussed angle of 45°; the simplified bearing capacity model achieves a mean value of 0.97, and can be accepted as a primary tool to perform structural design and performance evaluation.

Various BDNF administrations attenuate SPS-induced anxiety-like behaviors.

Post-traumatic stress disorder (PTSD) has become epidemic following severely stressful incidents. Previous studies have shown that brain-derived neurotrophic factor (BDNF) has anxiolytic effects on various anxiety or depression disorders including PTSD. However, the detailed mechanisms of BDNF for treating PTSD were rarely investigated. In the current study, single-prolonged stress (SPS) was used as an animal model recapitulating specific aspects for a PTSD-like phenotype. The effects of BDNF on SPS-induced anxiety-like behaviors were investigated. We showed that the levels of BDNF in the cerebro-spinal fluid (CSF) were significantly reduced after the rats experienced SPS. The SPS-induced reductions of percentages of time spent in the central area to total time in the open field test, were dose-dependently mitigated after BDNF intracerebroventricular (i.c.v.) injections. BDNF i.c.v. administration also dose-dependently increased the preference of the light box in the light-dark box test. Both expressions of tyrosine kinase receptor B (TrkB) protein and mRNA in the prefrontal cortex (PFC) and amygdala were significantly increased after SPS challenges. BDNF i.c.v. administration attenuated these compensatory increases of TrkB. At last, the anxiolytic effects of BDNF on SPS model were also observed by using other two injection methods. These results inspired us to study that different administrations of BDNF were used in patients with PTSD in the future, in-depthly.

Morphological investigations of endomorphin-2 and spinoparabrachial projection neurons in the spinal dorsal horn of the rat.

It has been proved that endomorphin-2 (EM2) produced obvious analgesic effects in the spinal dorsal horn (SDH), which existed in our human bodies with remarkable affinity and selectivity for the µ-opioid receptor (MOR). Our previous study has demonstrated that EM2 made synapses with the spinoparabrachial projection neurons (PNs) in the SDH and inhibited their activities by reducing presynaptic glutamate release. However, the morphological features of EM2 and the spinoparabrachial PNs in the SDH have not been completely investigated. Here, we examined the morphological features of EM2 and the spinoparabrachial PNs by using triple fluorescence and electron microscopic immunohistochemistry. EM2-immunoreactive (-ir) afferents directly contacted with the spinoparabrachial PNs in lamina I of the SDH. Immunoelectron microscopy (IEM) were used to confirm that these contacts were synaptic connections. It was also observed that EM2-ir axon terminals contacting with spinoparabrachial PNs in lamina I contained MOR, substance P (SP) and vesicular glutamate transporter 2 (VGLUT2). In lamina II, MOR-ir neurons were observed to receive direct contacts from EM2-ir varicosities. The synaptic connections among EM2, MOR, SP, VGLUT2, and the spinoparabrachial PNs were also confirmed by IEM. In sum, our results supply morphological evidences for the analgesic effects of EM2 on the spinoparabrachial PNs in the SDH.

Congenital Bronchobiliary Fistula: A Case Report and Literature Review.

Congenital bronchobiliary fistula (CBBF) is a rare disease. Children with CBBF mostly have atypical clinical manifestations that can be easily missed. We report a case of a child with CBBF who was diagnosed with fistulography with the help of an endobronchial blocker and a fiberoptic bronchoscope. The CBBF was successfully removed by thoracoscopic surgery.

Case Report: Neonatal Complex Congenital Heart Disease With Anomalous Origin of the Left Coronary Artery From the Right Pulmonary Artery: Analysis of Missed Diagnosis and Improvement Procedures.

The anomalous origin of the left coronary artery from the right pulmonary artery is a rare type of congenital disease. It is even rarer when combined with complex congenital heart diseases requiring surgical intervention in the neonatal period. Because it has no clinical manifestations in the neonatal period, it is easier to miss diagnosis when combined with complex congenital heart disease. To avoid a missed diagnosis of anomalous origin of the left coronary artery from the right pulmonary artery, preoperative echocardiography should routinely explore the orifice of the coronary artery. However, the preoperative examination can lead to missed diagnosis due to the influence of the examiner's experience, equipment, and other factors. After thoracotomy, exploring the orifice position of the left and right coronary arteries can avoid a missed diagnosis of the abnormal origin of coronary arteries. An exploration of the coronary artery is mainly recommended for children with complex congenital heart disease in the neonatal period and children with congenital heart disease combined with unexplained cardiac insufficiency and abnormal mitral valve development.

Identification of a hippocampal lncRNA-regulating network in cognitive dysfunction caused by chronic cerebral hypoperfusion.

Cognitive dysfunction caused by chronic cerebral hypoperfusion is a common underlying cause of many cognition-related neurodegenerative diseases. The mechanisms of cognitive dysfunction caused by CCH are not clear. Long non-coding RNA is involved in synaptic plasticity and cognitive function, but whether lncRNA is involved in cognitive dysfunction caused by CCH has not yet been reported. In the present study, we identified the altered lncRNAs and mRNAs by deep RNA sequencing. A total of 128 mRNAs and 91 lncRNAs were up-regulated, and 108 mRNAs and 98 lncRNAs were down-regulated. Real-time reverse transcription-polymerase chain reaction verified the reliability of the lncRNA and mRNA sequencing. Gene Ontology and KEGG pathway analyses showed that differentially-expressed mRNAs were related to peptide antigen binding, the extracellular space, the monocarboxylic acid transport, and tryptophan metabolism. The co-expression analysis showed that 161 differentially expressed lncRNAs were correlated with DE mRNAs. By predicting the miRNA in which both DE lncRNAs and DE mRNAs bind together, we constructed a competitive endogenous RNA network. In this lncRNAs-miRNAs-mRNAs network, 559 lncRNA-miRNA-mRNA targeted pairs were identified, including 83 lncRNAs, 67 miRNAs, and 108 mRNAs. Through GO and KEGG pathway analysis, we further analyzed and predicted the regulatory function and potential mechanism of ceRNA network regulation. Our results are helpful for understanding the pathogenesis of cognitive dysfunction caused by CCH and provide direction for further research.

Arrhythmia and/or Cardiomyopathy Related to Maternal Autoantibodies: Descriptive Analysis of a Series of 16 Cases From a Single Center.

Objective: To describe the clinical characteristics of maternal autoantibody-mediated arrhythmia and/or cardiomyopathy, and to explore the therapeutic role of glucocorticoids in these diseases. Methods: This was a retrospective observational study of 2 fetuses and 14 children who presented with autoantibody-mediated arrhythmia and/or cardiomyopathy in our hospital from September 2010 to December 2018. Results: In total, 16 patients were identified, including 2 fetuses, and 14 children. One mother suffered from Sjogren's syndrome, two suffered from systemic lupus erythematosus (SLE), and the remaining 13 were asymptomatic carriers of autoantibodies. Two fetuses were diagnosed with complete congenital heart block (CHB) and had mean heart rates of 45 and 50 bpm. In the 14 surviving children, third-degree CHB was detected in 4 children, second- to third-degree CHB in 4, corrected QT interval (QTc) prolongation in 1, atrioventricular dissociation, and junctional ectopic tachycardia in 1, complete left bundle branch block (CLBBB) with dilated cardiomyopathy (DCM) in 3, and endocardial fibroelastosis (EFE) in 1. All of the 14 surviving babies received intravenous immunoglobulin and glucocorticoids. None of the children received pacemaker implantation. During the follow-up, one 3-month-old girl who had complete CHB, DCM, and Torsades de pointes almost recovered after the administration of prednisone for ~8 years. Three cases with complete CHB had no improvement after 3-5 years of follow-up. One case with EFE and three cases with CLBBB and DCM were in stable condition now. Children with QTc prolongation and junctional ectopic tachycardia returned to a regular rhythm. Conclusions: Autoantibody-mediated arrhythmias and/or cardiomyopathy are severe complications related to maternal autoantibodies, and the administration of steroid may be beneficial in reversing complete CHB.

Transcatheter Closing Atrial Septal Defect in a Child With Hereditary Spherocytosis.

A 3-year-old girl was admitted to our hospital for the correction of atrial septal defect (ASD). Open heart operation with cardiopulmonary bypass is dangerous because the patient also had hereditary spherocytosis, which put her at risk for hemolytic anemia. Therefore, percutaneous transcatheter closure for ASD was chosen and performed successfully, which avoided the erythrocyte damage caused by cardiopulmonary bypass. This is the first time such a case has been reported, and we present an alternative approach for ASD with hereditary spherocytosis.