采用新型Amplatzer膜VSD封堵器对膜周室间隔缺损行经导管封堵术:美国一期试验的结果

OBJECTIVES: This phase I study attempted to report the initial safety and efficacy results of transcatheter closure of perimembranous ventricular septal defects(PmVSDs) using the new Amplatzer Membranous VSD Occluder(AGA Medical Corp., Golden Valley, Minnesota) in the U.S. BACKGROUND: The most common congenital heart disease is PmVSD. Surgical repair is widely accepted, but still carries a small but definite risk of morbidity and mortality. METHODS: Between October 2003 and August 2004, a total of 35 patients with PmVSD underwent an attempt of transcatheter closure under transesophageal and/or intracardiac echocardiographic guidance. The median age was 7.7 years(range, 1.2 to 54.4 years) and median weight was 25 kg(range, 8.3 to 110 kg). The median Qp/Qs ratio was 1.8(range, 1 to 4), and the median VSD size as assessed by echocardiography was 7 mm(range, 4 to 15 mm). RESULTS: The attempt to place a device was successful in 32 patients(91% ). The median device size used was 10 mm(range, 6 to 16 mm). The complete closure rates by echocardiography at 10 min(transesophageal/intracardiac), 24 h, 1 month, and 6 months(transthoracic) were 47% (15/32), 63% (20/32), 78% (25/32), and 96% (27/28), respectively. The median fluoroscopy time was 36 min(range, 14 to 191 min), and the median total procedure time was 121 min(range, 67 to 276 min). Three patients(8.6% ) had serious adverse events of complete heart block, peri-hepatic bleeding, and rupture of tricuspid valve chordae tendineae. No other patient encountered serious adverse events during the follow-up. CONCLUSIONS: Transcatheter closure of a PmVSD is technically feasible and seems safe enough in children over 8 kg in weight to warrant continuation of clinical trials to assess the long-term safety and efficacy.

Lung injury after cardiopulmonary bypass:Alternative treatment prospects

Although the lung injury caused by cardiopulmonary bypass(CPB)has been extensively investigated,the incidence and mortality of lung injury after CPB remain a prominent clinical problem.The poor outcome has been attributed to multifactorial etiology,including the systemic inflammatory response and ischemia reperfusion(I/R)injury during CPB.Lung injury after CPB is a complex pathophysiological process and has many clinical manifestations of mild to severe disease.Which is associated with prognosis.To alleviate this lung injury,interventions that address the pathogenesis are particularly important.This review summarizes the pathogenesis,mechanism and treatment options of lung injury after CPB,such as lung protection with intralipid.

THE STUDY ON POST-REMISSION THERAPIES IN PATIENTS WITH APL AFTER COMPLETE REMISSION INDUCED BY ALL-TRANS RETINOIC ACID

As to determine the effect of post-remission therapy in prolonging survival and duration of remission after complete remission, 50 patients with APL In complete remission Induced by retinolc acid (RA) were divided into three groups randomly: (A) 30 cases, treated by alternate chemotherapy with RA; (B) 10 cases, with RA alone; (C) 10 cases, only with chemotherapy.The survival curves showed mat Group A had the survival time more than 1 year In 87. 4 %, more than 2 year in 80.7%. 26/30 cases were survival and still in remission, the survival curve tend to be a plateau at 16 months. In Group B more than 1 year in 45. 7%. In Group C, more than 1 year In 50%. (Keplan-Meler x2 = 8. 93 P <0. 01).This result showed that the alternate chemotherapy with RA for post- Induction remission therapy could be useful to Improve long-term survivors and to prolong the duration of remission.

预后不佳的早产儿尿液中的S100B蛋白

Prematurity is an important cause of perinatal death, and no reliable biochemical/biophysical markers exist to identify newborns with an increased mortality risk. We aimed to use S100B concentrations in urine as an early indicator of risk of neonatal death. We did a cross- sectional study using urine obtained from 165 preterm newborns, of whom 11 suffered neonatal death within the first week, 121 displayed no overt neurologic syndrome, and 33 suffered neonatal hypoxia and intraventricular hemorrhage (IVH) but not ominous outcome. Urine S100B concentrations were determined at four time- points and corrected for gestational age by conversion to multiples of median (MoM) of healthy controls of the same gestational age. Ultrasound imaging was assessed within the first 72 h from birth. In infants that died within the first week, S100B levels in urine were already higher than controls at first urination and increased progressively between the 24 and 96- h time- points. Multiple logistic regression analysis showed a significant correlation between urine S100B protein concentrations and the occurrence of neonatal death. An S100B concentration cut- off of 12.93MoM at first urination had a sensitivity of 100% and a specificity of 97.8% for predicting an ominous outcome. The positive predictive value was 78.6% , the negative predictive value was 100% . Measurement of urine S100B protein levels in preterm newborns could be useful to identify newborns at higher risk of neonatal death.

SIDS发生率的可信度有多少?

There is increasing concern with using SIDS as a diagnosis, especially where the postmortem examination reveals additional findings that may be contributory to the death exclusion. This report shows how varying the criteria for a diagnosis of SIDS significantly alters the SIDS rate in Ireland.

患绒毛膜羊膜炎和脐带炎的早产儿脐带内皮细胞的激活和胎儿的炎性反应

Chorioamnionitis and funisitis are associated with pretermlabor and postnatal morbidity. Activation of endothelium resulting in up-regulation of adhesion molecules seems to be a key mechanism in development of organ damage. We investigated whether Chorioamnionitis with or without funisitis in preterm infants induced expression and shedding of adhesion molecules in the umbilical cord and resulted in increased concentrations of E-selectin, intercellular adhesion molecule (ICAM)-1, IL-1β , IL-6, and IL-8 in the cord blood. Data were obtained by using immunohistochemistry and ELISA. Thirty-two preterm infants were divided into three groups according to histology: Chorioamnionitis with funisitis, Chorioamnionitis without funisitis, and controls without signs of inflammation. ICAM-1 expression on arterial endothelium was higher with funisitis compared with Chorioamnionitis alone or with the control group. Similar results for ICAM-1 expression were found in venous endothelium, vascular walls, Wharton’ s jelly, and amnion epithelium. Endothelial E-selectin and vascular cell adhesion molecule (VCAM)-1 expression was only induced significantly with funisitis. Serum-concentrations of soluble ICAM-1 were higher with funisitis compared with chorioamnionitis alone or control group. Similarly, concentrations of soluble E-selectin, IL-1β , IL-6, and IL-8 were increased exclusively with funisitis. In conclusion, only chorioamnionitis with funisitis was associated with systemic inflammation and endothelial activation with up-regulation and shedding of umbilical cord adhesion molecules. We speculate that this activation of endothelium may not be limited to the umbilical cord but may also involve other organs resulting in neonatal morbidity. This underlines the importance of funisitis as a risk factor for adverse outcome.

先天性心脏病成年患者患感染性心内膜炎的临床病程和并发症

Although a high mumber of patients with congenital heart disease(CHD) undergo surgical palliation or definite correction up to adolescence, adult congenital heart disease(ACHD) may remain a potential lifelong risk factor for infective endocarditis(IE) in patients growing up with congenital heart disease(GUCH). Methods: In a retrospective case study of a tertiary care center long-term clinical course and complications of patients with IE and GUCH were analysed. Results: Data of 52 patients with CHD, who fulfilled the Saiman criteria for infective endocarditis and were treated between April 1986 and March 2001, were identified: Risk factors for infective endocarditis were previous cardiovascular operation(51.9% ), use of foreign material(38.5% ), dental or other surgical procedures without recommended antibiotic prophylaxis(25.0% ), or cardiac catheterization(5.8% ). Staphylococcal(38.9% ) or streptococcal species(35.2% ) were cultivated in most cases as causative microorganisms. Complications were: recurrence of IE(7.7% ), septic embolisms(30.8% ) leading to central nervous complications(7.7% ), embolism of pulmonary arteries(7.7% ), renal arteries(1.9% ), arteries of the extremities(9.6% ), or infarction of spleen(1.9% ). Other cardiac(23.1% ) or extracardiac(13.5% ) complications were frequent. The need of re-operations during or after IE was high(67.3% ). The hospital mortality was 1.9% , late mortality was 7.7% . Conclusions: Patients with IE and CHD show a broad clinical spectrum of cardiac and extracardiac complications. They may lead to a complicative short-and long-term course with the potential risk of death and a high number of re-operation. Efforts have to be made to improve long-term outcome of patients with ACHD by an interdisciplinary cooperation.

早卵泡期抗苗勒激素作为卵巢储备的指示因子

Objective: To determine the predictive value of antimü llerian hormone (AMH) as a marker for ovarian reserve and to compare its value with the markers currently being used. Design: Prospective analysis. Setting: In vitro fertilization (IVF) clinic of a tertiary medical center. Patient(s): Fifty women undergoing assisted reproduction cycles. Intervention(s): None. Main Outcome Measure(s): Comparison of day- 3 serum AMH levels among women with less than five retrieved oocytes and five or more oocytes. Antral follicle count, mature oocyte count, age, basal follicle- stimulating hormone (FSH), estradiol (E2), maximum serum E2 levels, and pregnancy success were also compared. Result(s): The mean serum AMH levels of patients with more than five retrieved oocytes were found to be higher (0.67 ± 0.41 vs. 0.15 ± 0.11 pg/mL). Mature oocyte counts, antral follicle counts, and maximum E2 levels were found to be statistically significantly different in the two groups despite similar ages and levels of basal FSH and E2. Although the receiver operator characteristics analysis revealed that the most sensitive and specific indicator of ovarian reserve is the level of AMH, it does not indicate pregnancy success as well when 0.25 pg/mL is taken as a cut- off value. Conclusion(s): These data demonstrate an association between early follicular serum AMH and ovarian response, but no association with pregnancy success.

静脉导管未闭的血流量与早期新生儿肝功能呈显著相关性

Background: The biochemical features of portosystemic venous shunt with high flow volume are hypergalactosaemia, hyperammonaemia, prolonged blood coagulation time, and raised serum bile acid concentration. The ductus venosus remains open with shunt flow in most neonates for a certain period after birth. However, the effects of blood flow through the ductus venosus on neonatal liver function remain unclear. Objective: To elucidate the effect of patency of the ductus venosus on liver function in early neonates. Methods: Subjects were divided into three groups by gestational age (group I, 29- 32 weeks; group II, 33- 36 weeks; group III, 37- 41 weeks). The shunt flow volume through the ductus venosus was examined serially using ultrasonography, and correlations between flow volume and liver function in the respective groups were calculated during the first week after birth. Results: Group I had a higher flow volume and later functional closure than the other two groups. Plasma ammonia and serum total bile acid concentrations correlated with flow volume in groups I and II, and blood galactose and galactose 1 - phosphate concentrations correlated significantly with flow volume in group III. Percentage hepaplastin also correlated significantly with flow volume in all groups, but plasma vitamin K concentration did not in any group. Conclusions: Patent ductus venosus has a considerable effect on crucial liver functions such as ammonia detoxification, blood coagulation, and regulation of serum total bile acid concentration in early neonates.

合并有阴道隔膜、双角子宫及同侧肾脏发育不全患者的治疗和预后

Objective: Herlyn- Werner- Wunderlich syndrome (HWWS)- is a rare mü llerian anomaly consisting of uterine didelphy, hemivaginal septum, and ipsilateral renal agenesis. The purpose of this study was to evaluate the natural history and outcome of patients with HWWS. Methods: With ethics review board approval, all patients with uterine/- vaginal anomalies were reviewed between 1982 and 2004. Patients with cloacal and/or anorectal anomalies were excluded. Presenting symptoms, preoperative investigations, operative management, and long- term follow- up were assessed. Results: Of 80 patients identified with uterine/vaginal anomalies, 12 had HWWS. Median age at presentation was 13 years. Most patients (11/12) in this series presented with either abdominal pain and/or pelvic masses. Two patients had intra- abdominal abscesses. Seven patients were menstruating at presentation with 4 of these patients having dysmenorrhea. Symptom duration ranged from 0.5 to 12 months. Diagnosis was confirmed by ultrasound (n = 11), computed tomographic scan (n = 3), and/or magnetic resonance imaging (n = 2). Operative management included vaginal septectomy and drainage of the hematocolpos/ hematometrocolpos. One patient required salpingectomy for pyosalpinx. Follow- up ultrasounds revealed no recurrent collections. Median follow- up was 3 years (2 months to 16 years). Eleven patients were asymptomatic after treatment. One patient complained of irregular menses. Conclusion: This is one of the largest reviews of HWWS in pediatric patients to date. Good long- term outcome occurs after vaginal septectomy. This diagnosis should be suspected in females with a pelvic mass and ipsilateral renal agenesis.

儿童全地形车(ATV)损伤对全国范围入院治疗的影响

Objective. All- terrain vehicle (ATV) injuries among children represent a significant and growing problem. Although state level analyses have characterized some aspects of pediatric ATV- related injuries, little information on the national impact on hospitalization is available. This study was designed to characterize more fully the patterns of injury, hospital length of stay, and hospital charges associated with ATV- related injuries, with a nationally representative sample. Methods. Analyses were based on the 1997 and 2000 Healthcare Cost and Utilization Project Kids’ Inpatient Database (KID). The KID is the only national, all- payer database of hospital discharges for children. KID data were weighted to represent all discharges from general hospitals in the United States. Discharges with external cause- of- injury codes consistent with off- road ATV related injuries were selected, and the affected population was described. Nationally representative rates of ATV- related injuries were calculated, and changes between 1997 and 2000 were documented. Results. An estimated 5292 children were hospitalized because of ATV- related injuries during the 2- year period, and hospitalizations increased 79.1% between 1997 and 2000. Rates of ATV- related hospitalization were highest among adolescent white male subjects, consistent with previous studies. Most patients had hospital lengths of stay of < 4 days (68% ), but 10% had stays of > 8 days. Injury severity varied considerably, with more than one third of patients sustaining moderate to severe injuries. Approximately 1% of hospitalizations resulted in in- hospital deaths. Total hospital charges for this injury mechanism were ＄ 74 367 677 for the 2- year study period. Most of these charges were paid by private insurers. Conclusions. This study provides evidence supporting recent substantial increases in childhood ATV- related injuries. The hospitalization impact of ATV- related injuries among children is considerable. Our data support the need for ongoing creative attempts to identify effective strategies to decrease ATV injuries among children.

罕见的女性假两性畸形、阴蒂尿道及后泄殖腔联合畸形

We describe a child with the rare clinical entity of female pseudohermaphroditism,accessory phallic urethra,and posterior cloaca who was successfully treated with posterior sagittal anorectovaginourethroplasty. Masculinization was limited to the external genitalia,and no chromosomal,metabolic,or adrenal abnormalities were detected. Associated pathology included bilateral vesicoureteric reflux,a non functioning dysplastic kidney,and bicornuate uterus. The investigation and surgical management of this particularly challenging combination of anomalies is detailed.

Pilot trial of huperzine A to treat ch ild language delay

AIM:To investigate the efficacy of huperzine Ain treating child language delay and its side effects.METHODS:37children with language delay and o ther developmental diseases from pediatric neurology out-patient departme nt,who did not undergo any language rehabilitation,were treated with huperzin e A50μg bi-daily for more 3months and then th e efficacy and side effects observed.The follow-up was arranged to record the efficacy monthly.RESULTS:37cases of 40had undergone the whole course and the total efficiency was 68%(25/37).Language developments of other 12cases were not improved significantly.Other3children were not included in becau se epilepsy were observed among them.CONCLUSION:This pilot trial result suggests th at huperzine A has ef-ficacy on child language delay but sh ould be investigated further.Huperzine A may trigger seizure of language dela y patients with epilepsy.

患结节性多动脉炎的婴儿表现有低钠性高血压综合征

The association of arterial hypertension with hyponatraemic dehydration, known as hyponatraemic hypertensive syndrome (HHS), is a rare and serious hypertensive complication. Here, we describe a 17- mo- old girl who presented with severe hyponatraemic dehydration, hypokalaemia, polyuria, and nephrotic- range proteinuria associated with malignant arterial hypertension and systemic inflammatory disease. Diagnosis of classic polaryteritis nodosa (c- PAN) was made on the basis of renal arteriography demonstrating small arterial aneurysms in association with non- aneurismal changes such as arterial cutoff, arterial tapering stenosis and nephrogram perfusion defect. A decrease of blood pressure by antihypertensive treatment resulted in the normalization of HHS abnormalities. However, c- PAN became well controlled only after 4 mo of immunosuppressive therapy. Conclusion: The main interest of this case was the uncommon presentation of systemic polyarteritis nodosa in a very young child. Renal ischaemia from intrarenal vessel disease may have been the trigger event for HHS in our case. Management of PAN- associated severe arterial hypertension is based on immunosuppressive and antihypertensive treatment.

儿童的毛母质瘤:来自欧洲三个儿科中心的一项回顾性研究

Pilomatricoma is characterised as a common, slowly growing benign cutaneous tumour that appears generally within the first decades of life. The clinical diagnosis is frequently missed, especially by the paediatrician unfamiliar with these tumours. We present the experience gained in three European tertiary care paediatric centres with the treatment of pilomatricoma and also current data on the aetiology, clinical presentation and management. A retrospective study was carried out in 83 patients suspected for pilomatricoma during a 7-year period (1996-2002) at the departments of Paediatric Surgery of the Children’ s University Hospital “ Federico II” , Naples, Hospital “ San Bortolo” , Vicenza and “ Aghia Sophia” Children’ s Hospital, Athens. The age range was from 10 months to 17 years, median age 8 years. All patients were treated by surgical excision and all specimens were examined by histopathological assessment. The follow-up varied from 5 months to 6 years. The correct diagnosis was made preoperatively in 68 patients (82% ). The female/male ratio was 2:1. The sites of occurrence were the head (47.5% ), especially in the periorbital region, the neck (9% ), the upper limbs (35.5% ), the inferior limbs (4% ) and the thorax (4% ). Each patient exhibited a single pilomatricoma except for two patients who had multiple lesions (2.4% ). One of them had Steinert disease (myotonic dystrophy). No recurrences were observed during the follow-up period. Conclusion: Pilomatricoma is one of the most common cutaneous adnexal neoplasms in children. Surgical excision including clear margins and its overlying skin in most cases is the treatment of choice. The recurrence as well as malignant evolution is rare.

张力性胃胸

Background: Tension gastrothorax develops when the stomach herniated through a congenital diaphragmatic defect into the thorax is massively distended by trapped air. The authors present 5 cases and discuss the diagnostic and therapeutic management. Case Reports: Four children, aged 3, 4, 6, and 13 months, presented with progressive respiratory distress. In only 1 child was the diagnosis of tension gastrothorax established initially, and immediate insertion of a nasogastric tube led to complete resolution of respiratory distress symptoms. In the remaining 3 children, the initial chest radiograph was misread as tension pneumothorax. One of them developed cardiac arrest and was successfully resuscitated. In 2 patients, thoracostomy resulted in immediate respiratory improvement. Only on follow-up radiographic evaluation was diaphragmatic hernia with herniation of the stomach into the left hemithorax diagnosed. One child underwent diagnostic thoracoscopy revealing the correct diagnosis. All 4 children underwent uneventful repair of a classic Bochdalek hernia. The fifth child, aged 5 months, had sudden infant death. At autopsy tension gastrothorax was found. Conclusion: Tension gastrothorax is a life-threatening condition leading to acute and severe respiratory distress. The condition exhibits distinct radiographic features. Emergency decompression of the distended stomach should first be attempted via nasogastric tube. If this maneuver fails, decompression must be achieved either by needle puncture or by chest tube insertion into the stomach.

罕见的先天性1a型糖基化紊乱报道:先天的持续性血小板减少、肥厚性心肌病及明显的外周水肿性水肿外貌

Of the congenital disorder of glycosylation (CDG) syndromes, type 1a is the most common. CDG 1a is a multisystem disorder with a wide clinical spectrum. We report on a term newborn with a severe and fatal clinical course of CDG 1a syndrome. Skin fibroblasts showed a reduced activity of phosphomannomutase 2 (PMM2) and mutation analysis revealed a compound heterozygous PMM2gene mutation (F119L/F157S). Presenting features at birth were hypertrophic non-obstructive cardiomyopathy, “ orange-peel” skin, inverted nipples and a hydrops-like aspect due to marked peripheral oedema. Suspected hydrops fetalis was not confirmed due to lack of ascites and pleural effusions. Striking clinical problems were therapy-resistant arterial hypertension, recurrent pericardial and pleural effusions and feeding difficulties with failure to thrive. Persistent congenital thrombocytopenia and hyperferritinaemia in the absence of infection were noted. Bone marrowcytology revealed amacrophage activation of unknown aetiology. Conclusion:Congenital thrombocytopenia, unspecific macrophage activation and a hydropslike aspect without a real hydrops fetalis broaden the already wide phenotypic spectrum of congenital disorder of glycosylation syndrome type 1a.

先天性膈肌缺损修复后对其成年后与健康相关的生活质量的影响:一项问卷调查研究

Background and Aim: Long-term respiratory, gastrointestinal, and vertebral sequelae are common after repair of congenital diaphragmatic defects (CDDs). The aim of this study was to assess the effect of these sequelae on the health-related quality of life (HRQoL) of adult survivors after CDD repair. Materials and Methods: A questionnaire, including 36-Item Health Survey Form (SF-36), 36-item Gastrointestinal Quality of Life Index (GIQLI), 55-item Psychosocial Survey, 9-item survey for Respiratory Symptoms-Related Quality of Life Index, and a symptoms query, was sent to 94 adult survivors of CDD and to 400 healthy control subjects. One SD lower than the age-adjusted national average in the 36-Item Health Survey Form score for physical or mental health was considered as low HRQoL. Results: Sixty-nine patients with CDD (72% ) and 162 (41% ) control subjects returned the questionnaire. The initial presentation was critical in less than 10% of patients with CDD. Forty-five patients with diaphragmatic hernia had primary closure; in 1 patient with diaphragmatic hernia, a patch was used. Twenty-four patients had plication of diaphragmatic eventration. The incidence of gastroesophageal reflux (20% vs 2% ), recurrent intestinal obstruction (7% vs 0% ), and recurrent abdominal pain (12% vs 2% ) was significantly higher in patients with CDD than in control subjects, whereas no difference in the incidence of respiratory, musculoskeletal, or other health problems not associated with CDD was found. Scores in GIQLI, Psychosocial Survey, and Respiratory Symptoms-Related Quality of Life Index did not differ between patients with CDD and control subjects. Health-related quality of life was low in 17 (25% ) of 69 patients with CDD, which exceeded 1.5 times the expected value. There was no correlation between the type or severity of the primary defect and HRQoL at the time of the study. Conclusion: Most adults with repaired CDD have good or satisfactory HRQoL. Congenital diaphragmatic defect-associated symptoms with or without acquired diseases significantly impair HRQoL in one fourth of the patients.