多孔磷酸三钙陶瓷人工骨修复儿童骨缺损

为寻找一种替代骨移植进行骨缺损修复的材料，应用多孔磷酸三钙（ＴＣＰ）陶瓷人工骨修复儿童骨缺损。１９８９年１２月～１９９３年９月应用这种人工骨修复儿童良性肿瘤或瘤样病变刮除术后所致腔状骨缺损１７例，术后随访平均２年５个月。结果显示全部病例的骨缺损均得到修复，患肢活动及负（持）重恢复正常，无全身及局部不良反应，效果满意。部分植入材料发生生物降解，被骨组织替代。多孔ＴＣＰ陶瓷人工骨是一种较理想的骨移植替代材料。     

Clinical course of isolated ventricular septal defect: An Indian experience

To define the clinical course of ventricular septal defect, 410 consecutive patients with isolated ventricular septal defect were evaluated over a period of 13 years. Their age ranged from 12 days to 24 years at the time of first visit to the hospital. Patients with less than 2 years follow-up period were excluded. One hundred and fifty seven patients were one year of age or less. The left to right shunt size remained the same in 52.4% of cases. In 34.4% the shunt size decreased, with complete closure of ventricular septal defect in 8.8%. Closure of ventricular septal defect was observed even in patients who had initially presented with large left to right flow, and congestive heart failure in infancy. Right ventricular outflow tract obstruction developed in 8.5% of patients usually between 2 and 10 years of age. Murmur of aortic regurgitation appeared in 8.9% on follow-up. Infective endocarditis developed in 6 cases. The unfortunate complication of Eisemenger's complex was seen in 3 patients; they had not returned for follow up for a long period of time. Hence, our data show that the left to right shunt across the ventricular septal defect decreases in about one-third of patients. However, a regular follow up is essential to prevent development of Eisenmenger's complex and for early detection of other complications like aortic regurgitation and right ventricular outflow tract obstruction.     

Sinus venosus atrial septal defect associated with vein of Galen malformations: Report of two cases

Summary Two unique cases are presented of infants with signs of vein of Galen malformations, whose unsuspected associated sinus venosus atrial septal defects were detected during routine echocardiography. A conservative approach to cardiac treatment is advocated.     

Patchplasty with expanded polytetrafluoroethylene and skinplasty for the closure of large congenital abdominal wall defects

A combined technique of patchplasty with expanded polytetrafluoroethylene (PTFE) and a special skinplasty is described for congenital abdominal wall defects where the abdominal cavity needs enlargement but skin closure is primarily possible. The patchplasty consists of suturing two half-moon-shaped, expanded PTFE leaves to the sides of the muscular abdominal wall, then approximating them under observation of intra-abdominal pressure by monitoring five parameters (urinary bladder pressure, central venous pressure, transcutaneous oxygen saturation, ventilation pressure, and mean arterial pressure). The skin is incised in a horizontal manner according to the tension lines. However, after closure, regional necrosis of the skin in the mid-portion above the incision is often observed due to lack of sufficient subcutaneous tissue at this site. Therefore, a skinplasty is done as a preventive measure, resecting this potential site of necrosis. The final appearance of the skin is an inverted T-shape. The surgical and monitoring techniques are described and illustrated. Correspondence to: A. Rokitansky     

THE OCCURRENCE OF TWO VASCULAR RINGS IN THE SAME INFANT

A fatal case of an infant with a combination of two vascular rings is described. One ring consisted of a right-sided aortic arch, aberrant left subclavian artery and persistent ductus arteriosus, the other of an anomalous left pulmonary artery branched off from the right pulmonary artery. The importance of a properly performed roentgen examination of the oesophagus is stressed.     

The relationship between mother and infant plasma trace element and heavy metal levels and the risk of neural tube defect in infants

Objective: To determine levels of trace elements [copper (Cu), zinc (Zn), selenium (Se), and cobalt (Co)] and heavy metals [arsenic (As), mercury (Hg), lead (Pb), and cadmium (Cd)] in the plasma of mothers and infants and investigate the relationship between those levels and neural tube defects (NTD).

Methods: A total of 100 neonates diagnosed with NTD and placed in the Neonatal Intensive Care Unit of Yuzuncu Yil University, Turkey between May 2013 and December 2016 comprised the study group. The control group consisted of 70 healthy neonates not diagnosed with NTD or any other congenital anomalies. For both the groups, mother and infant plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared. Plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared between two groups of mothers and infants.

Findings: Mother and infant plasma levels of trace elements Zn and Se were determined to be significantly lower in the study group compared with the control group, while Cu levels were significant elevated in the study group (all p values p?p?>?.05). Differences in maternal age, birth weight, length of gestation, and infant gender for the two groups were also determined not to be statistically significant.

Results: High plasma levels of heavy metals As, Pb, and Cd and trace element Cu were identified as risk factors for the development of NTD. At the same time, low plasma levels of trace elements Zn and Se were also found to be risk factors for NTD. However, no association between Hg and Co plasma levels and increased risk for the development of NTD was observed. This study, while being the most comprehensive case study to date investigating the relationship between heavy metals and trace element levels and increased risk of NTD, nonetheless highlights the need for further research in order to make definite statements regarding this relationship.     

The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD)

Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD).

Material and methods: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA). Of the 40 women in the study, 32 gave birth and the clinical outcome of the children was retrieved from the patients’ medical records.

Results: Of the 30 patients who underwent amniocentesis, one was detected with mosaic Klinefelter syndrome and one was detected with a pathogenic copy number variant unrelated to the VSD. Clinical follow-up was performed on 26 children after birth. The first postnatal echocardiography did not detect a VSD in 13 (50%) of the followed-up children. Spontaneous closure occurred in another eight (30.8%) children during the postnatal follow-up period. In only five children (19.2%) VSD was still detected by echocardiography after the first year of life.

Discussion: Isolated muscular VSD diagnosed prenatally does not appear to be a significant risk factor for chromosomal abnormalities and has a favorable clinical outcome.     

吻合腓肠浅动脉游离小腿后侧皮瓣修复全手掌软组织缺损

目的：研究修复全手掌软组织缺损的方法。方法：利用吻合腓肠浅动脉的小腿后侧皮瓣移植修复全手掌软组织缺损10例。结果：临床应用10例成活，其中1例于术后72h因动脉过长而栓塞，经取出血栓，再次吻合动脉，皮瓣成活，术后10～15个月随访，皮瓣外形近似正常手掌，两点辨别觉为5cm，感觉为S4。结论：利用吻合腓肠浅动脉皮瓣修复全手掌软组织缺损是一种可选的方法。     

Detection of Gene Alteration for Color Vision Defects by Polymerase Chain Reaction

According to the fact that the abnormalities of visual pigment genes were always involved in the changing of the exon 5, two oligonucleotide primers were designed to amplify the exon 5 of red pigment gene and green pigment gene. After electrophoresis of the PCR products digested with Rsal or Sau3A, the DNA fragments from the exon 5 of red pigment gene (RPG) and green pigment gene (GPG) were separated since there are different restriction endonuclease sites. On the other hand, we analyzed the exon 5 related fragment by Southern blot hybridization with probe out of the 3'end of the fourth in-tron of green pigment gene. The results of PCR are consistent with nucleic acid hybridization. PCR technique will be of value in prenatal evaluation and genetic counselling.     

儿童出生缺陷发生危险因素的病例对照研究

目的探讨儿童出生缺陷发生的危险因素 ,以期控制儿童出生缺陷的发生。方法随机选取 5 71例出生缺陷儿童 ,按照 1:1配对的原则选取 5 71例健康儿童做对照 ,调查两组儿童父母可能对出生缺陷有影响的 19个因素 ,进行单因素与多因素条件Logistic回归分析。 结果产妇文化程度低、妊娠期剧烈呕吐、父亲吸烟与母亲被动吸烟、月人均收入低、孕早期患感染性疾病、孕早期蛋白质摄入不足等与儿童出生缺陷发生有关。结论提高产妇文化程度、劝阻父母吸烟、加强孕早期营养摄入与控制孕早期感染能够减少儿童出生缺陷的发生