胎儿泌尿系畸形的超声随访监测与临床对比观察

目的对孕期超声监测到胎儿泌尿系统畸形者的妊娠结局和患儿以后的肾脏功能进行评估.方法对1993年1月～2003年12月所有产前超声检查怀疑泌尿系先天畸形的患儿进行产前死亡率、产后超声诊断、产后处理、肌酐清除率进行回顾性分析,以评估以后的肾脏功能.结果 74例产前超声怀疑为泌尿系畸形者,18例考虑到泌尿系畸形可能为致命性病变而终止妊娠,15例患儿于产前或产后1个月内死亡.至今存活者,21例肾脏功能良好、5例肾功能欠佳、3例肾功能极差,12例胎儿于出生后超声证实不是畸形,他们的肾功能良好,产前怀疑双侧泌尿系畸形和合并其他相关畸形患儿预后较差.结论产前诊断泌尿系畸形预后依靠特有的异常发现,染色体组型异常、合并其它相关畸形、累及双侧的先天泌尿系畸形预后较差.     

IVC anomalies and right renal aplasia detected on CT: a possible link?

Background: We report the occurrence of congenital anomalies of the inferior vena cava (IVC) and right renal aplasia in three patients as detected on computed tomography (CT). Methods: The medical records and imaging studies of three patients with congenital anomalies of the IVC and right renal aplasia were studied. We also reviewed eight reported cases with such an association. Results: Eleven patients, nine adults and two girls, were included in the series. Indications for imaging included deep vein thrombosis (n = 5), hypertension (n = 2), failure to advance a femoral vein catheter cranially (n = 1), dilated veins along the abdominal wall (n = 1), endstage renal failure (n = 1), and jaundice (n = 1). CT was performed in seven patients, and venography, aortography, and other imaging modalities were performed in four. IVC anomalies included partial or complete absence of the IVC in nine patients and a double vena cava in two. The azygos vein was very prominent in all patients in whom the IVC was absent. The right kidney was absent or very small in all patients. Conclusion: The association between IVC anomalies and absence of the right kidney as detected on CT probably was not incidental. Although most patients had symptoms deriving from the anomalies, these might have been clinically silent. The radiologist should be aware of the possible association between these anomalies, which can be detected on CT.     

Desmosterolosis presenting with multiple congenital anomalies

Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus deformity, short and wide neck and distal contractures. On analysis of the regions of homozygosity found by microarray, we identified DHCR24 as a candidate gene. Sterol quantitation showed a desmosterol level of 162 μg/mL (nl: 0.82 ± 0.48). Genetic testing confirmed the diagnosis with a homozygous likely pathogenic mutation (p.Glu191Lys) in the DHCR24 gene. Our case expands the known diagnostic spectrum for Desmosterolosis. We suggest considering Desmosterolosis in the differential diagnosis of patients who present with concurrent agenesis of the corpus callosum with white matter atrophy and ventriculomegaly, retromicrognathia with or without cleft palate, hand contractures, and delay of growth and development. Children of consanguineous mattings may be at higher risk for rare recessive disorders and testing for cholesterol synthesis defect should be a consideration for affected children. Initial evaluation can be performed using sterol quantitation, followed by genetic testing.     

Beckwith Wiedemann syndrome: A population-based study on prevalence,prenatal diagnosis,associated anomalies and survival in Europe

Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries. There were 15 (4.0%) terminations of pregnancy after prenatal detection of severe anomaly/anomalies, 10 fetal deaths (2.7%), and 346 (93.3%) live-births. Twelve (3.6%) of the 330 live-births with available information on survival died in the first week of life, of those eleven (91.6%) were preterm. First-year survival rate was 90.9%. Prematurity was present in 40.6% of males and 33.9% of females. Macrosomia was found in 49.2% and 43.3% of preterm males and females, respectively. Of term newborns, 41.1% of males and 24% of females were macrosomic. Out of 353 cases with known time of diagnosis, 39.9% were suspected prenatally, 36.3% at birth, 7.6% were diagnosed in the first week of life, and 16.2% in the first year of life. The mean gestational age at prenatal diagnosis by obstetric ultrasound was 19.8?±?6.2 (11–39) gestational weeks. The mean prenatal diagnosis of cases where parents opted for termination of pregnancy was 15.3?±?2.4 (11–22) gestational weeks, and the mean gestational age at termination was 19.3?±?4.1 (13–26) gestational weeks. The prenatal detection rate was 64.1% (141/220) with no significant change over time. There were 12.7% of familial cases. The study confirmed the association of assisted reproductive technologies with Beckwith Wiedemann syndrome, as 7.2% (13/181) of patients were conceived by one of the methods of assisted reproductive technologies, which was three times higher compared to the general population of the countries included in the study. Twin pregnancies of undetermined zygosity were recorded in 5.7% (21/365) cases, and were on average three to four times more common than in European countries that participated in the study. The estimated mean prevalence of classical Beckwith Wiedemann syndrome in Europe was 3.8 per 100,000 births or 1:26,000 births.     

Antenatal sonographic detection of the proximal esophageal segment: Specific evidence for congenital esophageal atresia

To determine the biologic significance of a transient anechoic area observed in the midline of the fetal neck when attempting an antenatal ultrasound diagnosis of congenital esophageal atresia (CEA), a prospective study was made in 10 cases presenting both polyhydramnios and an unusually small stomach size due to a decrease in fetal stomach fluid. There were 8 cases indicating a transient anechoic area in the fetal neck, all of which were diagnosed as having CEA postnatally by plain roentgenogram, neonatal surgery, or autopsy findings. The remaining 2 cases had no CEA; one had Nager's syndrome and the other, a disorder involving neuronal migration in the central nervous system. These results suggest that an anechoic area in the middle of the fetal neck can be used as an indication of CEA and also for differentiating this condition from diseases with possible swallowing impairment. © 1995 John Wiley & Sons, Inc.     

Cutis laxa,exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. > 100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Whole exome sequencing identified the novel hemizygous mutation c.542 T > G (p.L181R) in the X-linked ATP6AP1, an accessory protein of the mammalian vacuolar H⁺-ATPase, which led to a general N-glycosylation deficiency. Studies of serum N-glycans revealed reduction of complex sialylated and appearance of truncated diantennary structures. Proliferation of the patient's fibroblasts was significantly reduced and doubling time prolonged. Additionally, there were alterations in the fibroblasts' amino acid levels and the acylcarnitine composition. Especially, short-chain species were reduced, whereas several medium- to long-chain acylcarnitines (C14-OH to C18) were elevated. Investigation of the main lipid classes revealed that total cholesterol was significantly enriched in the patient's fibroblasts at the expense of phophatidylcholine and phosphatidylethanolamine. Within the minor lipid species, hexosylceramide was reduced, while its immediate precursor ceramide was increased. Since catalase activity and ACOX3 expression in peroxisomes were reduced, we assume an ATP6AP1-dependent impact on the β-oxidation of fatty acids. These results help to understand the complex clinical characteristics of this new patient.     

心血管手术对患者脑电图的影响

目的　比较接受体外循环 (CPB)心内直视手术患者和接受动脉导管未闭结扎术的患者手术前后脑电图 (EEG)的变化 ,探讨心内直视手术对脑功能的影响。方法　选择接受心内直视手术患者 5 1例 ,分为 2组 ,A组 (n =2 6 )为先天性室间隔缺损的患者 ,B组 (n =2 5 )为风湿性心脏病二尖瓣病变的患者。A、B两组患者均在浅低温CPB心脏不停跳下施行心内直视手术 ;同时选择接受先天性动脉导管结扎术的患者 8例为C组 (n =8)。全部患者术前和术后 7d进行EEG检查。结果　接受心内直视手术的患者术后 7dEEG较术前明显变差 (P <0 0 1) ,与接受动脉导管未闭结扎术的患者相比也明显变差 (P <0 0 1) ,但A、B两组间差异不显著 (P >0 0 5 )。结论　CPB下心内直视手术会造成患者EEG的明显异常。     

Acute ventilatory restriction in children after weaning off inhaled nitric oxide: relation to rebound pulmonary hypertension

Objective: To assess the interaction between pulmonary hemodynamics and respiratory mechanics during acute pulmonary hypertension. Patients: Ventilated and paralysed children treated with inhaled nitric oxide because of post-operative pulmonary hypertension. Interventions: Weaning of inhaled nitric oxide. Measurements: Air flow and airway pressure, calculation of dynamic respiratory system compliance and respiratory system resistance for each breath by multiple linear regression. Results: In four patients, increases in pulmonary arterial pressure from 26.1 to 56.7 mmg (p < 0.001) during weaning off nitric oxide were associated with decreases in tidal volume (from 9.7 → 8.2 ml/kg, p < 0.01) and reductions in dynamic respiratory system compliance (from 0.52 → 0.34 cmH₂0/ml/kg, p < 0.001), while respiratory system resistance was unchanged. Conclusions: Impaired ventilation during acute pulmonary hypertension is predominantly related to a reduction in respiratory system compliance. Received: 26 March 1998 Final revision received: 9 June 1998 Accepted: 30 July 1998     

成人先天性巨输尿管症10例报告

目的探讨成人先天性巨输尿管症的诊断和处理,提高对巨输尿管症的认识.方法回顾分析本院199年8月～2002年7月对10例巨输尿管症的诊治情况.其中左侧6例,右侧3例,双侧1例.均经B超、IVU及RGP检查确诊.所有病人均行手术治疗,其中行输尿管裁剪后膀胱再植术9例,患侧肾、输尿管切除术1例.结果经随访1～5年,7例病人8侧输尿管积水明显减轻,2例无变化.结论B超、IVU及RGP检查是诊断成人先天性巨输尿管症首选方法,手术是目前治疗此病的有效手段.