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Objective:To quantify the left ventricular myocardial work in patients with repaired tetralogy of Fallot (TOF), and to evaluate the changes in left ventricular systolic function after TOF repair by pressure-strain loops (PSL).Methods:Seventy-six cases of children after TOF complete surgery in Shenzhen Children′s Hospital from September 2015 to September 2021 were analyzed retrospectively. There were 41 cases in the ≤4-year group and 35 cases in the >4-year group. Seventy-six healthy children with matched body surface area in the same period were selected as the control group. All subjects underwent complete echocardiography and quantitative analysis of left ventricular myocardial work, including global longitudinal strain (GLS), global work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE). Compared with the normal control group, the changes of left ventricular myocardial work after TOF repair were analyzed. For patients with complete echocardiographic data before and after surgery, the correlation between postoperative left ventricular myocardial work and preoperative degree of right ventricular outflow tract (RVOT) obstruction was analyzed.Results:①In the ≤4-year group, compared with control subjects, GLS, GWI, GCW, GWE decreased, and GWW increased in patients with repaired TOF. All the differences were statistically significant [(-20.00±1.52)% vs (-21.59±1.73)%, (1 349.37±133.63)mmHg% vs (1 553.51±246.09)mmHg%, (1 589.39±167.85)mmHg% vs (1 749.12±249.45)mmHg%, 94.0%(94.0%, 95.0%) vs 96.0%(95.0%, 97.0%), (78.80±20.53)mmHg% vs (62.27±21.44)mmHg%; all P<0.05]. ②In >4-year group, compared with the control group, GLS, GWI, GWE decreased, and GWW increased in patients with repaired TOF. All the differences were statistically significant [(-19.89±1.66)% vs (-21.31±1.60)%, (1 486.09±172.42)mmHg% vs (1 713.14±227.05)mmHg%, 96.0%(94.0%, 96.0%) vs 97.0%(96.0%, 97.0%), 75.00(65.00, 95.00)mmHg% vs 55.00(42.00, 71.00)mmHg%; all P<0.05]. ③GWW was negatively correlated with preoperative RVOT diameter and RVOT-Z score( r=-0.422, -0.433; both P<0.05). GWE was positively associated with preoperative RVOT diameter and RVOT-Z score( r=0.441, 0.540; both P<0.05). ④GLS, GWI, GCW, GWW, GWE had good repeatability within and between observers.All the differences were not statistically significant (all P>0.05). Conclusions:Left ventricular systolic function in patients with repaired TOF is lower than that in healthy children of the same age by echocardiography PSL, although traditional indicators are still within the normal range. Patients with more severe RVOT obstruction before surgery have worse left ventricular systolic function after operation. Quantification of left ventricular myocardial work by echocardiography PSL is helpful for long-term follow-up of children after TOF repair.
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Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.
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Objective:To compare the diagnostic accuracy of lung ultrasonography and radiography in detection of acute traumatic intrathoracic injuries in children.Methods:A retrospective analysis was performed in 46 cases of children with chest trauma in Shenzhen Children′s Hospital from January 2017 to January 2021. The diagnostic efficiency of lung ultrasound and radiography in children with acute traumatic hemopneumothorax and lung contusion were compared. Computed tomography scan was used as gold standard.Results:The sensitivity and specificity of lung ultrasound were 0.79 and 0.98 for pneumothorax, 0.86 and 0.75 for hemothorax, 0.86 and 0.80 for pulmonary contusion, respectively. Area under the ROC curve of ultrasonography in detection of pneumothorax, hemothorax, and pulmonary contusion was 0.889 (95% CI=0.798-0.979, P<0.001), 0.804 (95% CI=0.707-0.901, P<0.001), and 0.831 (95% CI=0.623-1.000, P=0.013), respectively. Area under the ROC curve of radiography was 0.674 (95% CI=0.544-0.803, P=0.008) for detection of pneumothorax, 0.645 (95% CI=0.517-0.772, P=0.026) for hemothorax, and 0.547 (95% CI=0.289-0.805, P=0.724) for pulmonary contusion. Comparison of area under the ROC curve declared the significant superiority of ultrasonography in detection of pneumothorax, hemothorax and pulmonary contusion (all P<0.05). Conclusions:Lung ultrasound has higher sensitivity and accuracy than chest radiography in the initial evaluation of chest trauma. For children with acute chest trauma, lung ultrasound should be the first choice.
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Objective:To evaluate the effectiveness and safety of ultrasound-guided hydrostatic reduction for pediatric acute intussusception.Methods:One thousand eight hundred and thirty patients with acute intussusception diagnosed by ultrasound in Shenzhen Children′s Hospital from September 2017 to July 2020 were treated with ultrasound-guided hydrostatic reduction method. The therapeutic effects, complications and ultrasonic features were observed.Results:Among 1 830 cases, 1 791 cases were diagnosed as primary intussusception, and 39 cases were secondary intussusception. The overall rate of successful ultrasound enema reduction were 1 780/1 830(93.7%) patients. All 50/1 830(2.7%) patients underwent surgery after unsuccessful enema reduction, including 42 cases of primary intussusception, and 8 cases of secondary intussusception. The complication of intestinal perforation occurred in 3 cases (0.16%), and there were no deaths.Conclusions:Ultrasound-guided enema reduction for pediatric acute intussusception is an effective and safe method without radiation exposure, and can be used as the preferred method for non-operative treatment of intussusception.
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Objective:To summarize the clinical manifestations of four patients with 46, XY disorders of sex development(46, XY DSD)due to doublesex and mab-3 related transcription factor 1(DMRT1)gene variant/haploinsufficiency, and to improve the understanding of clinicians for this disease.Methods:The medical history, physical examination, endocrine function assessment, gonadal pathology, and genetic data of 4 patients with 46, XY DSD were retrospectively collected.Results:A heterozygous new missense mutation in DMRT1 was found in one child. The chief complain was primary amenorrhoea at the age of 15 years, with the external masculinisation score(EMS)0. The DMRT1 haploinsufficiency was found in 3 cases, 1.2 Mb, 5.1 Mb, and 6.0 Mb fragments were deleted at the 9p, and one of 3 cases had 33.3 Mb repeats in the 5p. All patients visited doctor under 1 year. Two patients were raised as females, and one was raised as male. All chief complains were external genital abnormalities, EMS of them were 1, 0, and 5 respectively. Endocrine evaluation of 2 out of 4 children showed varying degrees of primary hypogonadism, and presented with complete gonadal dysgenesis. One patient showed a well function of Leydig cells and poorly function of Sertoil cells, and presented with mixed gonadal dysgenesis. One of 3 cases was diagnosed with gonadoblastoma at the age of 18 months. Patient No.4 didn′t agree with the gonadal biopsy. The chromosome karyotypes of 4 children were 46, XY.Conclusions:The visiting ages of 46, XY DSD patients caused by DMRT1 variation were older than those of patients caused by DMRT1 haploinsufficiency. The clinical manifestations are complex, and gonadal function can vary from normal to complete gonadal dysgenesis. Such patients are at high risk of gonadoblastoma and young onset. Gonadal biopsy should be performed as early as possible.
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Objective To investigate the diagnostic value of ultrasonography in radial head subluxation (RHS).Methods The clinical data and ultrasonographic findings of 34 children with RHS were retrospectively analyzed.All patients were routinely treated by bilateral compared and multi-sectional elbow joints ultrasonography.And the X ray results were negative.Results Ultrasonographic manifestations of RHS included increased radiocapitellar distance in 29 cases (29/34,85.29％);widened joint space and enhanced echo in 25 cases (25/34,73.53％);hook sign,supinator muscle above the radial head in 32 cases (32/34,94.12 ％);annular ligament entrapment in 33 cases (33/34,97.06％).Conclusion Ultra sonographic manifestations of RHS have certain characteristics.Comparation of bilateral elbow joints and the application of continuous scanning ultrasound are helpful to make a quick and accurate diagnosis of X-ray negative RHS.
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Objective To investigate the clinical value of coronary artery Z-scores on echocardiography in diagnosing coronary artery abnormalities. Methods The echocardiography results of 612 patients with Kawasaki disease (KD) at the acute and recovery phase were retrospectively studied. Coronary artery luminal diameters were converted to body-surface-area-adjusted Z-scores. According to coronary Z-scores classiifcation, all the subjects were divided to four groups:415 cases with no dilation (ND), 133 cases with small coronary artery abnormalities (SCAAs), 47 cases with large coronary artery abnormalities (LCAAs), and 17 cases with giant coronary artery abnormalities (GCAAs). Clinical features (gender, age, typical clinical manifestations, fever duration) and laboratory results (CRP, ESR, WBC, PLT) were compared among all the four groups. Coronary artery diameters and the Z-scores were compared between acute and convalescence phase. Results Along with the increase of coronary Z-score, fever duration was prolonged [ND group:(7.75±3.12) d, SCAAs group (8.50±4.12) d, LCAAs group: (8.57±3.58) d, GCAAs group: (11.88±4.33) d, F=22.375, P0.05). No significant different coronary diameters were found in ND cases between recovery and acute phase [(2.24±0.34) mm vs (2.33±0.36) mm, t=1.926, P > 0.05]. But there were significant difference in the coronary Z-scores of ND patients between recovery and acute phase (0.41±0.82 vs 1.17±0.75, t=8.332, P < 0.05). The coronary Z-scores in SCAAs group (1.32±0.89 vs 3.40±0.62, t=11.073, P < 0.05), LCAAs group (3.12±2.27 vs 6.20±1.28, t=4.579, P<0.05) and GCAAs group (11.88±6.77 vs 20.4±9.70, t=3.480, P<0.05) at recovery phase were smaller than values at acute phase. Conclusions The KD coronary Z-scores are the body-surface-area-adjusted standard value, and not subject to the influence of children growth and development. Therefore, it may accurately evaluate the severity of coronary artery abnormalities and its recovery process. Accurate quantitative of the coronary artery luminal dimensions is important in KD clinical management and prognosis prediction.