Value of transesophageal echocardiography in device closure of perimembranous ventricular septal defects in children via ultra-minimal trans intercostal incision.

AIMS: To investigate the value of transesophageal echocardiography (TEE) in perimembranous ventricular septal defect (PmVSD) closure via a left parasternal ultra-minimal trans intercostal incision in children. METHODS: From January 2015 to December 2020, 212 children with PmVSDs underwent device occlusion via an ultra-minimal trans intercostal incision. TEE was used throughout the perioperative period, including TEE assessment, TEE-guided localization of the puncture site, and TEE guidance. All patients were followed up using transthoracic echocardiography for more than 6 months. RESULTS: A total of 207 cases were successfully occluded, and the success rate was 97.64%. One hundred forty-five patients had a single orifice, and 62 patients had multiple orifices in the aneurysm of the membranous septum (AMS). During the operation, the surgeon readjusted the device or replaced it with a larger device in 17 cases. After the operation, 19 cases of a slight residual shunt, 13 cases of pericardial effusion, and 4 cases of pleural effusion were noted. All patients returned to normal during the 4-month follow-up period. Mild mitral regurgitation was present in one patient and remained the same during the follow-up period. No other complications were found. CONCLUSIONS: Under TEE guidance, PmVSDs were closed successfully using a concentric occluder via an ultra-minimal trans intercostal incision. TEE, which was used to assess defects and postoperative effect, effectively guide PmVSDs closure, is of great value.

Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.

Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. In total, about 20 cases of CLS have been reported in China. Here, we report two cases of CLS in identical twin brothers and examine their potential causative mutations. Methods: The Trio mode was used in this analysis, i.e., DNA from the proband and his parents was sequenced. Furthermore, DNA from the proband's twin brother was used for confirmation. Results: A hemizygous variation was detected in the 11th exon of the RPS6KA3 gene, c.898C>T (p.R300*) of the proband, and the same site variation was detected in his identical twin brother; however, the mutation was not detected in his parents. Conclusions: The RPS6KA3 gene mutation c.898C>T (p.R300*) is the causative factor of familial CLS. The variant detected was reported for the first time in the Chinese population. Additionally, by analyzing the previous literature, we were able to summarize the phenotypic and genetic characteristics of GLS in China.

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population.

Currently, no consensus exists regarding Sotos syndrome in the Chinese population. Here, we present a case of neonatal Sotos syndrome, followed by a retrospective analysis of five cases of neonatal Sotos syndrome, reported in China. The study subject was a twin premature infant, heavier than gestational age, with characteristic facial features, limb shaking, and hypertonia. Transient hypoglycemia, abnormal cranial magnetic resonance imaging, multiple nodules in polycystic kidneys and liver, abnormal hearing, patent ductus arteriosus, and an atrial septal defect were also noted. The subject showed overgrowth and developmental retardation at 3 months of age. Sequencing revealed a novel missense mutation, c.5000C>A, in the nuclear receptor binding the SET domain protein 1 gene, resulting in an alanine-to-glutamate substitution. The bioinformatics analysis suggested high pathogenicity at this site. This study provides insights into diagnosis of neonatal Sotos syndrome based on specific phenotypes. Subsequent treatment and follow-up should focus on developmental retardation, epilepsy, and scoliosis.

Altered Spontaneous Brain Activity in Patients with Classical Trigeminal Neuralgia Using Regional Homogeneity: A Resting-State Functional MRI Study.

OBJECTIVE: Neuroimaging studies have shown that patients with pain-related conditions have altered neuronal activity and structural functions. The purpose of this study was to investigate whether patients with classical trigeminal neuralgia (CTN) exhibit changes in corresponding neuronal activity via analysis of neuronal activity regional homogeneity (ReHo). METHODS: A total of 28 patients presenting with sore eyes (12 men and 16 women) were matched with 28 healthy controls (12 men and 16 women). All participants underwent functional magnetic resonance imaging (fMRI). This ReHo method was used to assess the consistency of changes in neural activity in various brain regions. The receiver operating characteristic (ROC) curve was applied to differentiate ReHo values of patients with CTN from ReHo values of healthy controls. Pearson's correlation analysis was applied to evaluate the correlation between ReHo values of different brain regions of patients with CTN and clinical manifestations. RESULTS: Compared with healthy controls, patients with CTN were found to have increased ReHo values in the inferior cerebellum bilaterally, right inferior temporal gyrus, right middle occipital gyrus, right fusiform gyrus, right superior frontal gyrus, and right precentral gyrus. ROC curve analysis of each brain region revealed near-perfect accuracy regarding the area under the curve. However, no correlation between ReHo values and clinical manifestations in patients with CTN was found. CONCLUSIONS: CTN is associated with altered neuronal networks in different areas of the brain. ReHo values all possess different degrees of change, implying that CTN has a certain impact on cerebral function.

[Arsenic speciation in rat plasma after oral administration of realgar and Niu Huang Jie Du Pian].

The arsenic species in rat plasma were studied after oral administration of realgar and Niu Huang Jie Du Pian (NHJDP) and the possible compatible effects of realgar was evaluated by comparing the pharmacokinetics of arsenic species after administration of realgar and NHJDP. The separation of the arsenicals was performed by a high performance liquid chromatography-hydride generation-atomic fluorescence spectrometry (HPLC-HG-AFS) technique. Dimethylarsinic acid (DMA) was found to be the main species in rats' plasma after dosing. No traces of arsenite [As(Ⅲ)], monomethylarsonic acid (MMA) or arsenate [As(Ⅴ)] were detected at any sampling time points. Compared with realgar administration alone, dose-normalized peak concentration(C(max)) and AUC(0-t) of DMA were significantly decreased by NHJDP administration, while the t(max) was significantly delayed with the clearance and apparent volume of distribution significantly increased, indicating that the pharmacokinetics of As from realgar was affected by other ingredients in the compound prescription of NHJDP.

Analysis and demonstration of the in-situ magnetometer for nuclear magnetic resonance gyroscopes.

Rb atom serves as both polarization medium and an in-situ magnetometer in a nuclear magnetic resonance gyroscope. Analytical solution for the in-situ magnetometer output is obtained. The output gains and the decoupling phases for the transverse fields are developed analytically. A method to determine experimentally the decoupling phases for the x and y outputs by scanning the phases at different offsets of the magnetometer is proposed. Influence of magnetic field parameters on the output gains and the decoupling phases are analyzed by experiment and theoretical computations. It is found that the main static field B0 and the sinusoidal carrier amplitude Bc and their ratios have significant effects on the output gains and decoupling phases. Accurate determination of the decoupling phases needs careful minimization of the constant residual field. The performance of the in-situ magnetometer is evaluated by experiment with the coupled output characteristic bellow ±0.16 nT when the transverse input field is within ±100 nT and the transverse output sensitivity 0.01nT/Hz0.5 within the bandwidth except the low frequency part.

Clinical Evaluation of Laparoscopic Surgery for Hirschsprung Disease Combined with Colorectal Anastomosis with a Stapling Technique in Infants.

Aim: To evaluate the effect of laparoscopic-assisted resection and colorectal anastomosis with a stapling technique in the treatment of Hirschsprung disease (HSCR) in infants. Methods: From June 2018 to January 2019, 25 cases of HSCR diagnosed by clinical examination and pathology were selected at the Children's Hospital, School of Medicine, Zhejiang University, China. All children were treated with standard laparoscopic-assisted transanal endorectal pull-through surgery (the modified Swenson technique). The short segment type and the typical type with a descending colon-rectum anastomosis were both included. The long segment type had an ascending colon-rectal anastomosis after ascending colon turnover. The colorectal anastomosis was divided into traditional manual anastomosis and straight intraluminal stapler (SIS) anastomosis. According to the different methods of anastomosis, the patients were divided into a traditional group and a SIS group. Age, gender, body weight, operation time, blood loss, postoperative anal exhaust and defecation time, postoperative hospitalization time, and postoperative short-term complications were analyzed retrospectively. Results: A total of 25 children were diagnosed with HSCR. There were 17 boys and 8 girls, and their average age was 10.20 months (interquartile range, 8.60-11.30). Their average body weight was 7.90 kg (interquartile range, 7.50-8.40). There were 17 cases of the typical type, 5 cases of the short segment type, and 3 cases of the long segment type. The different colorectal anastomosis methods were divided into 10 cases in the traditional group and 15 cases in the SIS group. There were no intraoperative complications, wound infections, or anastomotic fistula. Compared with the SIS group, children in the traditional group had an increased operative time (129.5 versus 103.00 minutes; P < .0001), increased intraoperative blood loss (20.00 versus 7.00 mL; P < .0001), increased postoperative hospitalization time (12.00 versus 9.00 days; P = .0003), and increased postoperative defecation time (18.40 versus 13.20 hours; P < .0001). After 6-12 months of follow-up, there was no anastomotic stenosis or enterocolitis in the SIS group. In the traditional group, 1 child had anastomotic stenosis, which improved 6 months after anal dilatation. One case of enterocolitis occurred 4 months after the operation and was cured after enema and infusion. Conclusion: Laparoscopic-assisted resection combined with colorectal anastomosis with the stapling technique in the treatment of HSCR in infants is feasible. It had a short operation time, less bleeding, less trauma, and a rapid recovery of postoperative intestinal function. The anastomosis was smooth, wide, and reliable, and anastomotic fistula and stenosis did not occur.

Real time three-dimensional transthoracic echocardiography evaluation in a patient with congenital pulmonary vein stenosis.

Although real time three-dimensional transthoracic echocardiography (RD-3DTTE) has been used in children with complex congenital heart diseases, the benefit of RD-3DTTE as a vision of the pulmonary veins still requires further evaluation. We present here, a 3-year-old girl with a stenosis of the left upper pulmonary vein (LUPV). Excellent images were obtained rapidly by RD-3DTTE that successfully visualized the narrowing at the junction of the LUPV. The result was demonstrated by MRI, cardiac catheterization, and operation. RD-3DTTE is a feasible and promising technique in evaluating pulmonary veins in children.

Suppression of ambient stray field for alkali magnetometer of nuclear magnetic resonance gyroscopes: Modeling and experiment.

In nuclear magnetic resonance gyroscopes (NMRGs), an ambient stray field should be suppressed to maximize performance of the in situ parametrically modulated alkali magnetometer (PMAM). Transfer functions of the PMAM of NMRGs decoupled with lock-in amplifiers are obtained by theoretical and simulation identification. It is found that the frequency bandwidth of the PMAM of NMRGs decoupled by lock-in amplifiers depends largely upon the low-pass filter of the lock-in amplifiers. A dynamic Kalman filter is used to estimate the stray field disturbance that is fed back to field coils to compensate the disturbance in the PMAM. Simulation and experiment results show that the dynamic Kalman filter has adaptiveness to the frequency shift of the nuclear spin precession signal of NMRGs that is quasi-sinusoidal. The dynamic Kalman filter for the PMAM is efficient in suppressing the ambient stray field noise of broad band and low frequency.

Molecular epidemiological study of enteroviruses associated with encephalitis in children from Hangzhou, China.

Enterovirus (EV) has over 100 serotypes of species A-D, which can cause various symptoms in infants. Enterovirus encephalitis (EVE) is serve disease with high morbidity and mortality in children. To well define the epidemiology of EVE, we wanted to know more about EV and EV molecular typing by conducting this study in Hangzhou.Cerebrospinal fluid samples were collected from children with diagnosis of encephalitis. Meanwhile, one-step real-time RT-PCR was used for the detection of EV, and we also identified the serotypes of EV by using gene sequencing of VP1 or 5'UTR region.A total of 126 CSF specimens were tested and EV was detected in 26 specimens (20.6%). The molecular typing results showed different types of EV strains including Coxsackievirus B2, Coxsackievirus B3, Echovirus 5, Echovirus 16, Echovirus 18, Echovirus 30, and all EV isolates belonging to the human EV species B.According to the sequence of VP1 and 5'UTR region, E30 may be major cause of children's EVE in Hangzhou, China.