Objective To investigate the clinical value of combined general and gynecological laparoscopy.Methods From March 2003 to December 2006,160 patients with abdominal and gynecological diseases were treated with laparoscopy,including laparoscopic cholecystectomy(LC)+ salpingostomy in 20,LC + ovarian cystectomy in 24 cases,LC + hysteromyomectomy in 12,LC + hysteromyomectomy and uterine artery blockage in 7,LC + subtotal hysterectomy in 19,LC + total hysterectomy in 11,LC + treatment of endometriosis in 6,laparoscopic appendectomy(LA)+ salpingostomy in 16,LA + ovarian cystectomy in 22,LA + subtotal hysterectomy and total hysterectomy in 18,decortication of liver cysts + ovarian cystectomy in 4,and laparoscopic hepatectomy + adnexectomy in 1.Results Laparoscopic procedures were completed in all the 160 cases without conversion to open surgery.The operation time ranged from 40 to 220 min(mean,120 min),and postoperative hospital stay ranged from 1 to 6 days(mean,3.4 days).No patient had perioperative complications.Among the 160 cases,143 were followed up for 3 to 24 months(mean,19.5),during which 1 developed vaginal stump hemorrhage 10 days after the operation and was cured by conservative therapy,1 experienced vaginal polypi at the stump 2 months postoperation and underwent polyp resection.Conclusions Combined general and gynecological laparoscopy is a promising method for patients with abdominal diseases complicated with gynecological diseases.It is important for surgeons from different departments to deeply understand the indications of laparoscopy,prepare well before operation,and cooperate closely.

Objective To investigate the clinical results of free super-thin peroneal artery perforator flap containing neurovascular axis in reconstruction of hand or foot soft tissue defects.Methods A retrospective case series study was made on 23 cases of hand or foot soft tissue defects admitted from January 2006 to March 2013.There were 16 males and 7 females,with a mean age of 33 years (range,17-51 years).Wounds were located in dorsal hand (n =12),dorsal pedis or amputated forefoot (n =8),greater thenar (n =2) and index finger (n =1) respectively.Defects ranged in size from 5.0 cm × 3.5 cm to 11.5 cm × 7.5 cm.Flap elevating was performed underneath the deep fascia and the perforator supplying the flap was dissected thoroughly,ligated and cut at the location arose from the peroneal artery.Most of the deep fascia except stripe shaped areas along the main blood supply chains was moved sharply and the fat underlying thinned primarily to the subdermal vascular network.After transferred to the recipient site,the flaps were revascularized by anastomosis of the perforating artery and its venae comitantes to appropriate recipient vessels.A total of 15 cases received innervated flap reconstruction.Flap vascularity and cosmetic results were recorded.Hand function was evaluated with the standard set up by the hand surgery branch of Chinese Medical Association.For foot reconstruction,shoe wearing status,gait,pressure-sore,flap sensibility,donor site appearance and complications were evaluated.Results All flaps were transplanted successfully with satisfactory cosmetic results,except that one flap used to cover dorsal ring finger defect left slightly bulky appearance.Mean duration of follow-up was 19 months (range,11-26 months).For hand reconstruction,the functional results were excellent in 6 cases and good in 9 cases.Repairing of foot defects with the flaps caused no problem of shoe wearing and no sore occurred.Normal gait was acquired except two cases of partially amputated foot.If innervated,flap sensibility was restored at least to the degree of S3.Protective sensation and touchpressure sensation were restored in eight non-innervated cases,and two of them were recovered to the degree of S3.There was only suture or small grafting scars on the donor leg and partially sensibility loss of lateral foot without functional defects in 13 cases.Conclusion Free super-thin peroneal artery perforator flap containing neurovascular axis is an easy and reliable technique that can attain satisfactory results for accurate coverage of hand or foot soft tissue defects.

Objective:To summarize the experience of arterial duct (AD) stenting in children with ductus-dependent hypoplastic right heart syndrome (HRHS).Methods:Seven children including 4 cases of pulmonary atresia with intact ventricular septum (PA-IVS) with HRHS and 3 cases of critical pulmonary stenosis (CPS)-IVS with HRHS underwent AD stenting in Qingdao Women and Children′s Hospital between January 2012 and January 2019. During the same period, 9 patients of PA-IVS with HRHS received Blalock Taussig (B-T) shunt. Two groups of children on the operation time, hospital stay time, intensive care time and mortality were compared. T test or Mann-Whitney U test was used for comparison between the two groups. Results:There was no significant difference in the age (18 (7-100) vs. 17 (1-142) d, U=31.000, P>0.05) and weight ((3.8±1.1) vs. (3.7±1.3) kg, t=0.272, P>0.05) between the AD stenting group and the B-T group.The operation time ((108±7) vs. (160±49) min, t=-4.304), intensive care time ((3.4±1.0) vs. (6.3±4.5) d, t=-8.692) and total hospitalization time ((10.3±1.0) vs. (26.3±1.0) d, t=-7.822) in the AD stenting group were differed significantly compared with the B-T group (all P<0.05). The transcutaneous oxygen saturation improved significantly (0.723±0.125 vs. 0.926±0.005, t=-6.044, P<0.05) after AD stenting. The diameter of AD stent ranged from 3.5 to 4.0 mm, and the length of AD stent was 16-21 mm. There were no complications such as vascular injury, acute thrombus, catheter spasm and death in the AD stenting group. The mortality of children in the B-T group was 3 in 9 cases. Three cases in the AD stenting group received pulmonary valvulotomy and bilateral Glenn operation at 6, 9 and 9 months after AD stenting, respectively. Conclusions:AD stenting is a feasible, effective, safe and minimally invasive procedure for children with ductus-dependent HRHS. It can even be used as an alternative to B-T shunt.

OBJECTIVETo investigate electroencephalographic (EEG) characteristics of anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis in children.

METHODClinical data of 28 children diagnosed as anti-NMDAR encephalitis were retrospectively analyzed for EEG characteristics in different periods and severity of disease and outcome.

RESULTAmong the 28 patients with anti-NMDAR encephalitis, 15 were males and 13 were females. Their age at disease onset ranged from 1 year 3 months to 12 years 4 months. Patients were divided into mild group (5 cases) and severe group (23 cases). In the different stage of the disease, occipital background activity of the EEG was preserved in more than half of patients. Accompanied by the evolution of disease course, the occipital background activity and slow waves gradually recovered to normal. In the peak phase of disease, occipital background activity in the awake state was preserved in 4/5 patients of the mild group and 9/17 patients of the severe group. Alpha and theta band rhythms in non-rapid eye movement (NREM) sleep existed in 77% (17/22) patients. EEG monitoring showed delta brushes in 2 cases, and the delta brushes were mixed with background fast waves in one case; 71% (20/28) patients had epileptiform discharges in EEG during the course, and among them, 6 patients had secondary epilepsy.

CONCLUSIONThe background activity in the awake state and abnormal diffuse slow waves of EEG were evolved and gradually recovered during the course of the disease. Regardless milder or severe illness condition, occipital background activity was still preserved during different stages in most patients. Alpha and theta rhythms in NREM sleep might represent a relatively overt EEG characteristic. The presence of delta brush in EEG was rare, and sometimes they were difficult to be distinguished from fast wave activities caused by drugs. The presence of epileptiform discharges in EEG suggested the possibility of secondary epilepsy.

Objective: To report operative techniques and clinical results of free sural cutaneoadipofascial flap containing the neurovascular axis based on a dominant peroneal perforating artery (DPPA, with a caliber≥0.8 mm) and its concomitant veins for reconstruction of dorsal forefoot soft tissue defects. Methods: The flap was applied in 32 cases with middle to large soft tissue defects in the dorsal forefoot from Aug. 2009 to Dec. 2014. DPPAs arising from the posterolateral intermuscular septum was located and assessed preoperatively with color Doppler flow image and computed tomography angiography. According to the location, size, and shape of the defects, one of these DPPAs was chosen for flap planning. The flap was harvested from the posterolateral aspect of the leg. The neighboring neurovascular axis (one or more of that of the sural nerve, the medial cutaneous nerve, the lateral cutaneous nerve of calf and the sural communicating nerve) was included to ensure vascular supply. According to skin laxity of the donor site, the width of the full harvesting part which should be able to cover the region of the recipient site where pressure and friction force were prominent while wearing shores was decided; the rest was harvested as an adipofascial flap (without skin) to get enough size. After transfer to recipient site, the flap was revascularized by anastomosing the perforating artery and its venae comitantes with appropriate recipient vessels, and reinnervated (antegrade or retrograded methods). Skin grafting was performed on the adipofascial surface of the flap primarily or secondarily. The defects in donor site of the leg was closed directly. Results: All flaps (ranged from 7.5 cm×5.0 cm to 23.0 cm×13.0 cm) were transplanted successfully, and no vascular or donor site problems occurred. All primary skin grafts (19 cases) was partially lost, but only 2 of them need a second grafting. Adipose necrosis occurred in 4 of 13 cases receiving secondary grafting but only needed wound care before surgery. Following up for 11-26 months showed both satisfactory functional and cosmetic results without problems of shoe wearing. Flap sensibility restored at least to the degree of S3. Conclusions The cutaneoadipofascial flap combines the advantages of perforator, neurocutaneous axis, free and adipofascial flaps leaving only suture scar in the donor leg, and is a satisfactory method for free-style and acute coverage of dorsal forefoot defects.

Objective:To review the clinical outcomes following perinatal multidisciplinary diagnosis and treatment of fetal D-transposition of great arteries (D-TGA).Methods:This retrospective analysis involved 37 fetuses (two fetuses were one of the twins) with D-TGA that were diagnosed by prenatal ultrasound at the Women and Children's Hospital, Qingdao University from January 2016 to December 2020. All the subjects received perinatal multidisciplinary diagnosis and treatment, from the Departments of Fetal Medicine, Genetics, Obstetrics, Ultrasonography, Pediatric Cardiology, Neonatology, etc., and the outcomes were described and summarized.Results:The detection rate of D-TGA was 0.059% (37/62 413), among which intact ventricular septum with D-TGA accounted for 56.8% (21/37) and ventricular septal defect with D-TGA for 43.2% (16/37). All the 37 cases were observed with normal nuchal translucency and four of them were at high risk in fetal Down syndrome screening. All the 31 cases who received non-invasive cell-free fetal DNA screening had normal results and two of 26 cases who received amniocentesis for karyotype analysis and chromosome microarray analysis were abnormal. In terms of pregnancy outcome, 19 pregnancies (51.4%) were terminated, of which 10 cases were terminated for medical reasons and others for non-medical reasons, and 18 cases gave birth to alive body (48.6%, 18/37). Postnatal ultrasound re-examination of one neonate revealed D-TGA with ventricular septal defect, patent ductus arteriosus, and bicuspid pulmonary valve malformation and severe hypoxia and acidosis occured. The patient was discharged after withdrawing treatment and was lost to follow-up. The other 17 neonates all underwent successful surgical treatment with a mean age of (10.2±6.0) d and length of hospital stay of (26.3±9.3) d. Postoperative follow-up (3.3±1.2) years showed all with good cardiac function.Conclusion:Perinatal multidisciplinary diagnosis and treatment of D-TGA can improve the success rate of postnatal treatment and prognosis.

Objective:To explore the value of current indications for fetal pulmonary valvuloplasty (FPV) by summarizing the postnatal diagnosis, treatment, and prognosis of fetuses with pulmonary atresia with intact ventricular septum (PA/IVS) and right ventricular hypoplasia (RVH).Methods:This prospective study was conducted at the Heart Center of Women and Children's Hospital, Qingdao University from September 2018 to March 2021, which included pregnant women who were (1) with fetal PA/IVS and RVH; (2) unable to receive FPV due to fetal position or gestational age despite the indications; (3) given integrated pre- and postnatal management. Prenatal fetal echocardiography assessment, postnatal diagnosis, treatment, and follow-up were summarized using Wilcoxon matched-pair signed-rank test.Results:A total of 35 singleton pregnant women were diagnosed with fetal PA/IVS and RVH by ultrasonic cardiogram and admitted during the study period. Among the 28 fetuses meeting the FPV indications, 18 underwent FPV, while the other 10 did not due to inappropriate fetal position or gestational age. After excluding four terminated pregnancies, the rest six cases were enrolled. The median gestational age at the initial prenatal fetal echocardiography diagnosis was 28.9 weeks (28.3-30.4 weeks). Compared with the initial evaluation, the fetal right ventricular to left ventricular length/diameter ratio [0.8 (0.6-0.9) vs 0.6 (0.5-0.8)] and tricuspid regurgitation velocity [4.7 m/s (3.2-5.1 m/s) vs 4.1 m/s (3.3-4.8 m/s)] were increased, while tricuspid valve Z value [－0.8(－1.6-0.8) vs 0.4 (－0.3-1.9)] and single-ventricular predictive score [0.5 (0.0-2.0) vs 2.0 (1.0-3.0)] were decreased when re-evaluated six weeks later ( T were－2.21, 2.00,－2.20, and 2.00; all P<0.05). All of the six fetuses were born alive with a median gestational age of 38.9 weeks (37.3-40.1 weeks). The median weight was 3 425 g (3 100-4 160) g after being transferred to cardiac intensive care unit. The median age was 12.5 d (0.0-20.0 d) at the first surgical intervention. The median follow-up duration was 15 months (11.8-18.5 months). At initial diagnosis, the single-ventricular predictive score was 1-2 points in four fetuses, and =3 points in two fetuses. There was no death during follow-up. Four patients achieved anatomical biventricular circulation, one achieved clinical biventricular circulation, and one still needed further follow-up, with single-ventricular predictive score at initial diagnosis of 1-3, 3, and 2 points, respectively. Conclusions:The prognosis is good in fetuses with PA/IVS and RVH who have FPV indications but do not receive intrauterine intervention, which suggests that the current FPV indications may be too broad, and a more suitable FPV indication need to be further explored given the difficulty of implementing FPV.

Objective:To summarize the clinical features, gene mutations and experience of standardized enzyme replacement therapy (ERT) of Pompe disease (PD) in children.Methods:A retrospective analysis was performed on the clinical data of 13 children with PD, who were hospitalized in Qingdao Women and Children′s Hospital from December 2016 to August 2021.According to the age at onset, the children were divided into the infantile-onset Pompe disease (IOPD) group and late-onset Pompe disease (LOPD) group.At the same time, they were divided into the ERT group and non-ERT group according to whether recombinant human acid alpha-glucosidase (rhGAA) was infused.Furthermore, the ERT group was divided into the standard ERT group and non-standard ERT group.The standard ERT group received a dose of 20 mg/kg every 2 weeks for 52 weeks.The survival rate was compared between groups by using the Kaplan-Meier method.Results:Among the 13 children with PD, there were 7 males and 6 females.Ten cases belonged to the IOPD group and 3 cases belonged to the LOPD group.The most common cause of initial consultation in the IOPD group was cardiac involvement, which accounted for 60.0% (6/10 cases), while the LOPD group mainly presented with myasthenia, cardiac involvement and respiratory tract infection at the first diagnosis.The serum level of creatine kinase (CK) in all cases increased to varying degrees.Acid alpha-glucosidase (GAA) was completely deficient in 1 case and decreased in 12 cases.All the children in the IOPD group showed myocardial hypertrophy, electrocardiograph (ECG) suggested a short PR interval, increased QRS voltage and extensive T-wave inversion.Three new mutations were found by GAA gene analysis, and they were c. 1861T>G (p.Trp621Gly), c.2278A>T (p.K760X), and c. 949G>A (p.A317T). Five cases in the IOPD group were given ERT.Two of them were given standard ERT for 52 weeks, and the other 3 cases were treated with non-standard ERT.At the end of follow-up, 2 cases treated with standardized ERT survived and the remaining 8 cases died of heart failure or respiratory failure.In the LOPD group, only 1 case was given ERT one time.Finally, 2 cases survived and one died of respiratory failure.The total fatality rate was 69.2%(9/13 cases). The survival rate of the ERT group (50.0%) and standard ERT group (100.0%) was significantly higher than that of the non-ERT group (14.3%) ( Log Rank P=0.037, 0.044). Conclusions:The clinical manifestations of PD are diverse.GAA activity examination and GAA gene analysis are important for clinical diagnosis of PD.Standardized ERT can significantly delay the progression of PD and even reverse myocardial hypertrophy in children with IOPD.

Objective To identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy (PME).Methods In this cross-sectional study,26 PME children (11 boys and 15 girls) sent to neurological outpatient clinics and admitted to wards of the Department of Pediatrics,Peking University First Hospital were enrolled prospectively from January 2014 to October 2018.The pathogenic gene variants of PME children and their parents were identified by Sanger sequencing,next generation sequencing panels of epilepsy or trio-based whole exome sequencing and so on.The genotypes and phenotypes of the PME children were anaylzed.Results The clinical features of 26 children include myoclonus,multiple types of seizures and progressive neurological regression.Their onset ages ranged from 3 months to 15 years.Several pathogenic gene variants were identified in the 15 patients,including TPP1 gene variantions in 3 patients;NEU1,GBA,TBC1D24 and KCNC1 gene variantions in 2 patients respectively;CLN6,MFSD8,ASAH1 and ATN1 gene variantions in 1 patient respectively.Several variants of uncertain significance were identified in 4 patients,including GOSR2 gene compound heterozygous variants in 2 patients,KCTD7 gene compound heterozygous variants in 1 patient,and compound heterozygous variants of an unreported TARS gene in 1 patient.No pathogenic gene variant was identified in 7 patients.In 15 children with the identified pathogenic gene variants,5 patients were diagnosed with neuronal ceroid lipofuscinoses (NCL),2 patients with sialidosis,2 patients with neuronopathic Gaucher disease,1 patient with dentatorubral-pallidoluysian atrophy (DRPLA),and 1 patient with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME).Conclusions PME include a group of diseases with genetic heterogeneity.Identification of the pathogenic gene variants of PME could help to predict the prognosis and guide the genetic counseling.