[Clinical characteristics and pregnancy outcomes of pregnant women with left ventricular non-compaction].

Objective: To investigate the clinical characteristics and pregnancy outcomes in pregnant women with left ventricular non-compaction (LVNC). Methods: The clinical data of seven pregnant women with LVNC from January 2011 to December 2021 in Beijing Anzhen Hospital,Capital Medical University were retrospectively analyzed, including age, gestational age of symptom first occured, LVNC history, clinical symptoms, New York Heart Association (NYHA) cardiac function class, echocardiography, blood brain natriuretic peptide (BNP), treatment and the maternal and fetal outcomes. Results: Five cases were diagnosed before pregnancy, of which there were three women with medication; one case diagnosed in the month of pregnancy; one case diagnosed at 36 weeks of gestation. NYHA cardiac function was grade Ⅰ in four cases and grade Ⅱ in three cases before or during the first trimester of pregnancy. Of the five pregnant women who underwent echocardiography, there were one case of left ventricular insufficiency, three cases of mild left ventricular dysfunction and one case of normal left ventricular function before or during the first trimester of pregnancy. Of the five pregnant women to the second and third trimester of pregnancy, there were one case of grade Ⅳ, one case of grade Ⅲ, two cases of grade Ⅱ-Ⅲ and one case of grade Ⅱ in NYHA class ; three cases of left ventricular insufficiency, two cases of normal left ventricular function by echocardiography four cases had cardiac symptoms at 15-24 weeks of gestation and were treated with medication. In four cases, blood BNP increased to 214-1 197 ng/L during pregnancy, and were 89-106 ng/L after termination of pregnancy. There were 4 cases with arrhythmia. Indications for termination of pregnancy: LVNC complicated with heart failure in two cases, LVNC complicated with decreased cardiac function and threatened preterm birth in one case, complicated with pregnancy at full term in two cases, LVNC complicated with severe pulmonary hypertension in one case, and left ventricular dysfunction in one case. Cesarean section in four cases in the third-trimester, in one case in the second-trimester, and forceps curettage in two cases were taken. Two full-term infants,two preterm infants were born without LVNC. Conclusions: Women diagnosed with LVNC and low left ventricular ejection fraction before pregnancy are more prone to decreased cardiac function during pregnancy. Carrying out pregnancy risk assessment and strengthening the multi-disciplinary team management of high risk factors in pregnancy are conducive to achieve good pregnancy outcomes.

[Application of deep learning-based chest CT auxiliary diagnosis system in emergency trauma patients].

Objective: To investigate the diagnostic efficacy and potential application value of deep learning-based chest CT auxiliary diagnosis system in emergency trauma patients. Methods: A total of 403 patients, including 254 males and 149 females aged from 16 to 100 (50±19) years, who received emergency treatment for trauma and chest CT examination in the Eastern Theater General Hospital from September 2019 to November 2019 were retrospectively analyzed. Dr. Wise Lung Analyzer's chest CT auxiliary diagnosis system was applied to detect 5 types of injuries, including pneumothorax, pleural effusion/hemothorax, pulmonary contusion (shown as consolidation and ground glass opacity), rib fractures, and other fractures (including thoracic vertebrae, sternum, scapula and clavicle, etc.) and 6 other abnormalities (bullae, emphysema, pulmonary nodules, stripe, reticulation, pleural thickening). The diagnostic reference standards were labeled by two radiologists independently. The sensitivity and specificity of the auxiliary diagnosis system were evaluated. The imaging diagnostic reports were compared with the results of the auxiliary diagnosis system, and the diagnostic consistency between the two was calculated by using the Kappa test. Results: According to the reference standards, among the 403 patients, 29 were pneumothorax, 75 were pleural effusion/hemothorax, 131 were pulmonary contusion, 124 were rib fractures, and 63 were other fractures. The sensitivity and specificity of the auxiliary diagnosis system for detection of pneumothorax, pleural effusion/hemothorax, rib fractures, and other fractures were 96.6%, 97.6%, 80.0%, 99.7%, 99.2%, 83.9%, 84.1%, and 99.7%, respectively. The sensitivity of detecting lung contusion was 97.7%. There was a high consistency between the auxiliary diagnosis system and imaging diagnosis in the diagnosis of injuries, in which the kappa values of pneumothorax, pleural effusion, rib fracture and other fractures were 0.783, 0.821, 0.706 and 0.813, respectively (all P<0.001). Two cases of pneumothorax, three cases of pleural effusion/hemothorax, nine cases of rib fractures, and six cases of other fractures missed by imaging diagnosis were all detected by the auxiliary diagnosis system. The detection sensitivity of the auxiliary diagnosis system was higher for emphysema, pulmonary nodules and stripe (all>85%), but lower for bullae, reticulation and pleural thickening. Conclusions: The deep learning-based chest CT auxiliary diagnosis system could effectively assist chest CT to detect injuries in emergency trauma patients, which was expected to optimize the clinical workflow.

[Relative factors of transmural intestinal necrosis in acute superior mesenteric vein thrombosis].

Objective: To examine the relative factors of transmural intestinal necrosis (TIN) during multidisciplinary stepwise management facilitating the decision making in patients with acute superior mesenteric vein thrombosis (ASMVT). Methods: Clinical data of patients with ASMVT admitted to Department of General Surgery, Jinling Hospital from January 2009 to June 2017 were reviewed retrospectively. There were 52 males and 37 females, aging (45.9 ± 12.6) years (range: 20 to 69 years). According to the postoperative pathological results and follow-up, the patients were divided into TIN group (n=31) and non-TIN group (n=58, including 18 cases of intestinal stricture). The related factors were compared between ASMVT patients with TIN and patients without TIN by univariate analysis using t test, U test and χ(2) test accordingly, and factors with statistically significance were subsequently submitted to binary Logistic regression analysis. The predictive value and cut-off point of factors were evaluated by receiver operator characteristic (ROC) curve and area under the curve. Results: In univariate analysis, smoking, hypertension, peritonitis, white blood cell count,haemoglobin, international normalized ratio, blood albumin, thrombosis of superior mesenteric branches vein, free intraperitoneal fluid, decrease of bowel wall enhancement and pneumatosis intestinalis were TIN risk factors (all P<0.05). According to the binary Logistic regression analysis, white blood cell count (OR=1.093, 95%CI: 1.010 to 1.182, P=0.027), thrombosis of the superior mesenteric branches vein (OR=11.519, 95%CI: 1.906 to 69.615, P=0.008), pneumatosis intestinalis (OR=11.140, 95%CI: 2.360 to 52.585, P=0.002) were independent relative factors of TIN in patients with AMI, and the area under the ROC curve of the above factors and predictive model was 0.759 (95%CI: 0.647 to 0.871), 0.745 (95%CI: 0.641 to 0.848), 0.737 (95%CI: 0.621 to 0.854), 0.909 (95%CI: 0.847 to 0.971), respectively. The cutoff value of white blood cell count was 18.1 × 10(9)/L. Conclusion: White blood cell levels, superior mesenteric vein branch thrombosis and pneumatosis intestinalis are independent predictors of TIN in ASMVT.

[The application of intestinal stomas in mesenteric ischemia].

Objective: To evaluate the application of intestinal stomas in mesenteric ischemia (MI) according to the concept of damage control surgery. Methods: Clinical data of 59 MI patients received intestinal stomas at Jinling Hospital, Nanjing University School of Medicine from January 2010 to June 2017 were analyzed retrospectively. There were 41 male and 18 female patients aging of (51±14) years (ranging from 20 to 86 years). All the patients were divided to two groups according to the degree of bowel ischemia: acute MI group (AMI, bowel necrosis, n=43) and chronic MI group (CMI, bowel stricture, n=16). The medium time from onset to consult of AMI was 7(12) days (M(Q(R))) and the time of CMI was 80(51) days. After the resection of irreversible ischemic intestine, ostomy was carried out for all 59 patients. Patients received oral anticoagulation, enteral nutrition and succus entericus reinfusion therapy for about 6 months after discharge. Then definite surgery to restore digestive tract was preferred. Results: In AMI group, APACHEⅡ score in admission was (16±3). The length of infarcted intestine resected was (160±95) cm, normal bowel left was (220±106) cm. Twelve patients had complications during first post-operation period including sepsis (n=8), acute renal failure (n=4), acute respiratory distress syndrome (n=4), short bowel syndrome (n=4). 30-day mortality was 18.6%. Total 30 patients received operation to restore the continuity of intestinal tract after 202(42) days and APACHEⅡ score was 4±2. Two patients suffered from sepsis and were cured after anti-infection. In CMI group, APACHEⅡ score was 16±3 and NRS2002 score was more than 3. The length of infarcted intestine resected was (43±33) cm. All patients had restored the continuity of intestinal tract after 176 (47) days. No major complications occurred during the first and second post-operation period. Conclusions: According to damage control surgery, after early revascularization, patients with acute intestinal necrosis should be treated with infarcted bowel resection and stomas. Besides, second operation to restore the continuity of intestinal tract should be conducted after nutritional support for 6 months. Patients with ischemic enteropathy who cannot be corrected with severe malnutrition should achieve stomas during first operation.

[Gradient treatment of acute superior mesenteric venous thrombosis: clinical analysis of 68 cases].

Objective: To investigate the effect of Gradient treatment for acute superior mesenteric venous thrombosis (ASMVT). Methods: Clinic data of 68 patients of ASMVT admitted in Department of General Surgery, Jinling Hospital, Medical School of Nanjing University from January 2009 to December 2014 were analyzed retrospectively. There were 50 male and 18 female patients with a mean age of (45±12) years. These patients were conducted by the stepwise treatment model (endovascular treatment-damage control surgery-surgical intensive care-intestinal rehabilitation treatment). Clinical outcomes and complications were compared during the follow-up period. Differences about bowel resection length of endovascular treatment and surgical procedures were evaluated with t test. Results: In the 68 cases, 24 cases were cured simply by endovascular treatment, 19 cases received surgical procedures alone (group surgery). Twenty-five patients received endovascular treatment combined with surgical procedures (group combined), including 6 cases temporary abdominal closure. The overall mortality rate was 2.9% (2/68) during hospitalization. The range of bowel resection of group combined significantly reduced compared with group surgery ((92±14) cm vs. (162±27) cm, t=-2.377, P=0.022). During 1-year follow-up period, 4 cases suffered from short bowel syndrome, whom underwent surgery alone. Conclusions: Early diagnosis and treatment is the key to treatment of ASMVT, the rapid improvement of intestinal ischemia is particularly important for prognosis. Combination therapy significantly save more residual small intestine and avoid short bowel syndrome. The selection of early gradient treatment can significantly reduce the mortality and improve the prognosis of ASMVT patients.

[Diagnosis and treatment of arrhythmogenic cardiomyopathy in children].

Objective: To summarize the clinical manifestations, experiences in diagnosis and treatment of arrhythmogenic cardiomyopathy (ACM) in children. Methods: A retrospective analysis of the clinical manifestations, laboratory tests, radiological features, treatment and follow-up results was conducted in 11 children diagnosed with ACM at the center of congenital heart disease, Beijing anzhen hospital from May 2010 to March 2022. Results: A total of 11 patients aged 2 to 16 years, including 5 males and 6 females were diagnosed with ACM. The clinical manifestations included decreased activity tolerance (7 patients), heart failure (4 patients), syncope or sudden death (3 patients), palpitation (3 patients), and chest tightness and pain (3 patients). Electrocardiogram showed right bundle branch block in 9 cases, paroxysmal ventricular tachycardia in 4 cases, frequent premature ventricular contraction in 4 cases, ventricular pre-excitation in 1 case, left bundle branch block in 1 case, and first degree atrioventricular block in 2 cases. Echocardiography showed enlargement of the right heart, widening of the right ventricular outflow tract, and thinning and bulging of the local wall of the right ventricle with reduced pulsation. Ventricular thrombosis was found in 2 cases. Six children underwent cardiac magnetic resonance imaging, which mainly showed severe enlargement of the right heart, thin free wall of the right ventricle, decreased right heart function, enhanced right ventricular myocardium, and formation of right ventricular aneurysm. Two children underwent myocardial biopsy examination and presented with typical pathological changes of ACM. Genetic tests in five patients revealed DSG2 gene mutation in 2 cases, PKP2 gene mutation in 2 cases, and MYH6 gene mutation in 1 case. All patients received anti heart failure treatment and antiarrhythmic drugs. Two children received anticoagulant treatment due to ventricular thrombosis. Radiofrequency ablation was performed in 2 patients. Glenn procedure was performed in 4 patients, and heart transplantation was performed in 1 patient due to progressive heart failure. The follow-up period ranged from 6 months to 12 years. Two cases died of right heart failure, 6 cases had different degrees of heart failure, 1 case had intermittent chest tightness and pain, and 2 cases were stable. Conclusions: ACM is a progressive genetic cardiomyopathy characterized by decreased activity tolerance, cardiac failure and arrhythmia in pediatric patients. The diagnosis is mainly based on clinical manifestations, electrocardiogram, cardiac imaging changes, and genetic testing. Early detection, diagnosis, and personalized treatment can improve the prognosis.

[ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features: a report and literature review].

Objective: To explore the clinical characteristics and mutation spectrum of ALPK3-related pediatric cardiomyopathy and craniofacial-skeletal abnormalities in children. Methods: The clinical data during a follow-up of 11 years including clinical features, echocardiogram, electrocardiogram, cardiac magnetic resonance, genetic testing, and other data of a child firstly diagnosed with ALPK3 gene-related cardiomyopathy and craniofacial-skeletal abnormalities in China were collected retrospectively. The literatures containing the keyword of "ALPK3 gene" published in the China National Knowledge Infrastructure, Wanfang database and PubMed were collected up to November 2020. Then, the clinical features and gene mutations of ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features were summarized. Results: A female patient aged 10 months who presented with an enlarged heart for 2 months, was admitted to the hospital and initially diagnosed with endocardial elastic fibrosis. The echocardiography showed features of dilated left ventricle (LV) and LV systolic dysfunction. Low-set ears, webbed neck, a grade 2/6 systolic murmur at lower left sternal area and bilateral absent flexion creases of dig were observed. After treatment, the size and function of the heart recovered to normal at age 13 months. However, the ventricular septum and LV wall were thicker than normal values. Then, the diagnosis was revised to hypertrophic cardiomyopathy(HCM) and suspected congenital malformation syndrome. LV hypertrophy (LVH) progressed slowly before the age of 8 years and then progressed rapidly. At age 9 years, compound heterozygous ALPK3 mutations (c.721dup, p.Y241Lfs*42(exon 1) and c.4840C>T, p.R1614*(exon 10)) were detected in the proband and the mutations had not been reported previously. Then, the final diagnosis of ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features was made. During the follow up of 11 years, regular follow-up echocardiographic images showed progressive LVH. At age 11 years, electrocardiogram showed LVH, ST-T changes in multiple-lead, T wave inversion, and prolonged QT intervals. Cardiac magnetic resonance showed biventricular hypertrophy and late gadolinium enhancement showed non-uniform enhancement of left and right ventricular myocardium. A total of 7 articles published in English were retrieved, and no Chinese literature was found. Twenty-eight cases were reported in the articles plus the patient in this study. Twenty-four mutations were reported worldwide, 18 patients carried homozygous mutations and 10 patients compound heterozygous mutations. Eleven patients showed dilated cardiomyopathy (DCM) at early stage of disease, and 10 of them transitioned to HCM at the disease progression stage. Eight patients presented with HCM at early stage of disease. Nine patients initially exhibited a mixed phenotype of DCM and HCM, and 6 of them eventually progressed to HCM. Electrocardiogram showed prolonged QT interval. Extracardiac features included short stature, special face, cleft palate, webbed neck, joint contracture, and scoliosis, etc. Conclusions: Progressive myocardial hypertrophy is a major feature of ALPK3 gene-related cardiomyopathy with craniofacial-skeletal malformations. Precise diagnosis depends on molecular genetic techniques. More cases should be accumulated for further analysis on the genotype-phenotype correlation and prognosis assessment.

[Prenatal and postnatal ultrasound assessment and clinical prognostic analysis for Ebstein anomaly].

Objective: To investigate the echocardiographic features of fetal Ebstein's anomaly (EA) and to analyze its clinical outcome and prognosis. Methods: A retrospective case-control study was conducted to analyze the echocardiographic features in fetus with EA. Thirty-five EA fetuses (EA group) and 35 normal fetuses matched for gestational age (control group) were enrolled. The main echocardiographic parameters of the two groups were collected and compared. According to the direction of blood flow in the ductus arteriosus (DA),fetuses in EA group were divided into DA reverse perfusion subgroup (n=11) and normal DA blood flow subgroup (n=24). The echocardiographic parameters and GOSE scores were compared between the two subgroups. The echocardiographic features of EA and the difference of fetal hemodynamics were summarized,and the clinical outcome of EA fetus was evaluated by GOSE score. Chi-square test Rank sum test or t test were used for comparison between groups. Results: Nineteen (54%) of the 35 patients terminated the pregnancy and 16 (46%) continued pregnancy until delivery during follow-up. Compared with the normal fetus group,the cardiothoracic ratio was significantly higher (0.47±0.11 vs. 0.34±0.01, t=6.640, P<0.01) and the transverse diameter ratio of right atrium to left atrium was significantly greater (1.42±0.38 vs. 1.08±0.11, t=5.030, P<0.01) in the EA group, and the ratio of pulmonary artery diameter to aortic diameter was significantly lower in the EA group (1.04±0.21 vs. 1.20±0.15, t=-3.770, P<0.01). Compared with the normal DA blood flow subgroup,the GOSE scores ≥ 1.5 was more frequently seen (7/11 vs. 3/24, P=0.004) and the ratio of pulmonary artery diameter to aortic diameter was significantly lower (0.91±0.18 vs. 1.24±0.20, t=-4.696, P=0.002) in the DA reverse perfusion subgroup. Six of the 16 delivery cases underwent EA corrective surgery after birth with 100% successful rate of operation. Among the 6 cases,two had preoperative GOSE score of ≥1.5 who were considered as severe cases,and four had low GOSE score of<1.5. The remaining ten cases who had not undergone the corrective surgery were followed up routinely. Conclusion: Prenatal hemodynamics of EA combined with GOSE score can more accurately evaluate the severity and prognosis of fetal EA, reduce unnecessary labor induction, and improve postpartum cure rate and clinical outcomes.

[Clinical analysis of scimitar syndrome in 6 pediatric patients].

Objective: To characterize the clinical features and outcomes of scimitar syndrome (SS) to aid the understanding of this syndrome. Methods: This retrospective study included 6 children who were diagnosed with SS at the pediatric cardiovascular center of Beijing Anzhen Hospital from January 2012 to September 2018. SS was diagnosed by echocardiography and confirmed by cardiac computed tomography angiography(CTA) or surgery. All data were collected to analyze the clinical and imaging characteristics and prognosis. Results: Among the 6 SS children (aged 2 months to 15 years; 5 males) weighed 5.6-17.1 kg. Three cases were infant type, the clinical manifestations were recurrent respiratory tract infection with growth retardation, including 2 cases with severe pulmonary hypertension, while 3 cases with adult type, were asymptomatic. Cardiac CTA imaging showed that the right single or all pulmonary veins descended through the diaphragm and converged into the inferior vena cava. One case was isolated infracardiac partial anomalous pulmonary venous connection (PAPVC) without other malformations. The remaining 5 cases complicated with atrial septal defect, different vascular and trachea malformations as well as spinal malformations. Vascular malformations included pulmonary veins stenosis, abnormal origin of pulmonary artery branches, collateral branches of systemic artery supplying local lung tissue, and persistent left superior vena cava. The treatment varied according to the specific location of anomalous pulmonary venous connection, the degree of pulmonary hypertension and the severity of clinical symptoms. Four cases underwent one-stage radical surgery, one case accepted intervention to occlude the collateral artery which was supplying the right lower lung and received stage Ⅱ radical surgery half a year later, and the remaining one case died from pulmonary hypertension crisis preoperation. Conclusions: Isolated SS can easily miss diagnosis due to mild clinical symptoms. Patients with complicated malformations can benefit from combination therapy. SS associated with severe pulmonary hypertension can lead to early death. Therefore, early diagnosis and appropriate treatment can improve the prognosis of patients.

[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

Minimization of transition metal interferences with hydride generation techniques.

A new hydride generator has been characterized for use with the acid-NaBH(4) hydride generation systems based on the insertion of a capillary tube into the sample introduction channel of a standard Meinhard nebulizer. The acidic sample and the tetrahydroborate solution are mixed at a merge point 1.5 cm from the end of the nebulizer orifice. Nebulization of the reaction solutions into a 0.7 mL tubular "spray chamber" follows a very short mixing time (less than 0.012 s) of the reagents. This approach permits 10 000 µg/mL Ni(2+) or Cr(3+) to be present in the sample solution without producing any interferences. Additionally, in the presence of Fe(3+) added as a "releasing agent", 5000 µg/mL Co(2+) or 160 µg/mL Cu(2+) can also be tolerated without interference. An 80 ± 2% generation efficiency is attained for the test element selenium. A detection limit of 6 µg/L (3σ(b)) is achieved with ICP-AES detection. Precision of replicate measurements at the 12 µg/L level varies from 5 to 12% relative standard deviation.