Objective To investigate the efficacy and safety of percutaneous induced thrombosis closure on small patent ductus arteriosus (PDA) solely under echocardiography guidance.Methods From June 2013 to September 2016,276 PDA patients were treated by femoral artery retrograde approach under echocardiography guidance.Twenty-five patients (14 boys,11 girls) among them with small PDA received percutaneous induced thrombosis closure because the delivery sheath could not pass PDA,with mean age (3.7 ± 1.6) years,mean body weight (16.6 ±5.4) kg and the mean diameter of the most narrow PDA was (1.3 ± 0.4) mm.All patients were assessed by transthoracic echocardiography,chest radiography and electrocardiography preoperatively.The intraoperative and postoperative effects were evaluated by echocardiography.Outpatient assessment was performed at 1,3,6 and 12 months after operation with electrocardiography and echocardiography,and yearly thereafter.Results Twenty-five patients were successfully treated with percutaneous induced thrombosis closure solely under echocardiography guidance.The mean operation time was (35.2 ± 6.1) minutes.The immediate residual shunt rates and 24 hours after operation were 28.0％ (7/25 cases) and 16.0％ (4/25 cases),respectively.All patients recovered and were discharged from hospital.The average hospitalization stay was (3.0 ± 0.6) days.The mean follow-up was (16.8 ± 12.3) months,residual shunt was observed in 2 patients (8.0％),and it decreased from 1.5 mm and 2.0 mm preoperatively to 0.8 mm and 1.0 mm postoperatively,respectively.All patients survived without peripheral vascular injury,cardiac perforation,PDA rupture or thrombembolia.Conclusions Percutaneous induced thrombosis closure of small PDA solely under echocardiography guidance is safe and effective.It can avoid occluder implantation and radiation injury.However,the residual shunt after operation needs following up closely.

Objective: To investigate the safety and efficacy of transthoracic minimally invasive patent ductus arteriosus (PDA) occlusion in infants and young children.
Methods: We retrospectively analyzed 105 infants and young children who received the transthoracic minimally invasive PDA occlusion in our hospital from 2012-10 to 2014-10. According to PDA diameter, patients were divided into 2 groups:Group A, the patients with PDA diameter ≥ 4 mm,n=64 and group B, the patients with 2 mm ≤ PDA diameter < 4 mm,n=41. All patients received the left third parasternal intercostal incision under suprasternal echocardiography guidance. The operative effect was evaluated by transthoracic echocardiography, and the follow-up study was performed at 1 month, 3 months, 6 months period and then annually after the operation by echocardiography.
Results: All 105 patients had successfully implanted PDA occluders. The patients’ gender, age, body weight, tracheal intubation time and the in-hospital time were similar between 2 groups,P>0.05. Compared with Group B, Group A had the larger diameters of PDA (5.7 ± 1.4) mm vs (2.7 ± 0.6) mm, P<0.001, PDA occluders (10.6 ± 1.8) mm vs (7.2 ± 1.3) mm, P<0.001, and the higher rates of moderate and severe post-operative thrombocytopenia 10.9% (7/64) vs 0% (0/41),P=0.028, immediate post-operative residual shunt as 15.6% (10/64) vs 2.4% (1/41),P=0.031. There was 1 patient in Group A suffered from pericardial tamponade due to hemorrhage at 2 days after operation and he was cured by emergent pericardial drainage. The patients were followed-up for (11.6 ± 7.8) months. The 1 month post-operative residual shunt was similar between 2 groups as 1.6% (1/64 ) vs 0% (0/41),P=0.421, and there was no residual shunt at 3 months after the operation. There were no complications of occluder detachment, hemolysis, pericardial effusion, left pulmonary artery or descending aortic stenosis occurred during the follow-up period.
Conclusion: Transthoracic minimally invasive PDA occlusion is a safe and effective method to treat the relevant infants and young children, while the post-operative residual shunt and thrombocytopenia should be closely observed in patients with large PDA.

Objective To investigate the molecular genetic characteristics and clinical characteristics of severe combined immunodeficiency(SCID)in children caused by a novel mutation of interleukin 2 receptor gamma IL-2RG gene.Methods The clinical data,laboratory results and genetic testing data of a child with SCID admitted to the Department of Children's Hematology of Northwest Women and Children's Hospital were analyzed.Results A two-month-old male infant was admitted to the hospital for treatment due to recurrent infections after birth.The child's blood routine results showed that the total number of white blood cells was normal,but lymphocytes were decreased.The lymphocyte subpopulation results showed a significant decrease in the proportion of total T(CD3+),helper T(CD3+CD4+),killer T(CD3+CD8+),and NK(CD3-CD16+CD56+)lymphocytes,while the proportion of B(CD3-CD19+)lymphocytes were increased.The immunoglobulin levels showed a significant decrease in IgG,and IgM and IgA were below the lower detection limit.The patient's cytokine levels did not significantly increase during infection.In the last three generations of the mother's family,9 males died of infection within one year after birth.The whole exome sequencing results of the core family revealed a semi zygous new missense mutation[c.675 C＞A,p.S225R(p.Ser225Arg)]in the IL-2RG gene on the X chromosome(chrX:70329160)of the patient,and the mother was a carrier.Based on the above evidence,the child was diagnosed with X-SCID.Subsequently,intravenous immunoglobulin was injected monthly,and routine antibiotics and antiviral drugs were taken to prevent infection,preparing for hematopoietic stem cell transplantation.Because the child was vaccinated with BCG after birth,the child developed disseminated BCG disease at the age of 6 months.After treatment,hematopoietic stem cell transplantation was performed.Conclusion The immune function of the X-SCID patient was severely compromised,which endangered the patient's life,and vaccination with live vaccines may lead to severe infections.This study found that the c.675 C＞A mutation of the IL-2RG gene was a novel pathogenic variation of the genetic cause of X-SCID,expanding the mutation spectrum of the X-SCID pathogenic gene IL-2RG.

This paper reported a case of neonatal radial nerve palsy that was successfully treated by conservative therapy. The patient with 39 weeks of gestational age was born vaginally. On the 2nd day after birth, right wrist drop, decreased muscle strength in the right upper limb, the erythema patch, and the subcutaneous nodule on the upper arm were observed. Electromyography revealed acute denervation of the radial nerve. Based on the electromyography results combined with clinical evaluations, neonatal radial nerve palsy was diagnosed. The patient was treated with self-made simple splint fixation along with comprehensive treatment. At 15 days of age, the family members removed the splint fixation themselves (13 days of fixation). At the age of 20 days, the symptoms of right wrist drop had disappeared, and the grasp reflex and Moro reflex of both hands returned to normal. A follow-up electromyography conducted at six months after discharge showed no obvious abnormalities.

Objective    To assess the efficacy and safety of percutaneous closure of patent ductus arteriosus (PDA) solely under echocardiography guidance. Methods    We retrospectively analyzed the clinical data of 200 patients who received the percutaneous closure of PDA under echocardiography guidance in Fuwai Hospital from August 2013 to April 2016. According the different approach, they were divided into 2 groups: a femoral artery approach group (n=143) and a femoral vein approach group (n=57). In the femoral artery approach group, there were 42 males and 101 females aged 3.20±5.63 years. In the femoral vein group, there were 10 males and 47 females aged 7.30±11.36 years. All Patients were treated by percutaneous PDA closure solely under echocardiography guidance. The follow-up was performed at one month after the operation by echocardiography, chest radiograph and electrocardiogram. Results    All 200 patients were successfully treated with percutaneous closure of PDA. The patients’ gender, in-hospital stay, rates of occluder  detachment were similar between the two groups (P>0.05). Compared with the femoral vein approach group, the femoral artery approach group had a younger age (3.20±5.63 years vs. 7.30±11.36 years, P<0.001), less body weight (14.25±11.54 kg vs. 24.25±19.14 kg, P<0.001) and shorter diameter of PDA (3.06±0.79 mm vs. 5.93±0.68 mm, P<0.001) and PDA occluders (5.43±1.00 mm vs. 12.14±0.54 mm, P<0.001), but had higher hospitalization expenses (32 108.2±3 100.2 yuan vs. 25 120.7±3 534.1 yuan, P<0.001). In the femoral vein approach group, one patient was closed under radiation guidance because guide wires could not pass through PDA. One patient in the femoral artery approach group suffered from occluder detachment at one day after operation and was cured by transthoracic minimally invasive PDA occlusion. There were no complications of occluder detachment, residual shunt, pericardial effusion or left pulmonary stenosis during the follow-up. Conclusion    Echocardiography-guided percutaneous PDA closure is safe and effective, while the proper interventional approach should be chosen by the anatomical features of PDA.