神经纤维瘤蛋白在先天性脊柱侧凸患者成骨细胞和软骨细胞中的表达

目的：检测神经纤维瘤蛋白在先天性脊柱侧凸患者成骨细胞和软骨细胞中的表达。方法：6例先天性脊柱侧凸患者，在后路手术时取髂骨及髂骨生长板，分离、培养成骨细胞和软骨细胞，分别行碱性磷酸酶染色和甲苯胺蓝染色。逆转录-多聚酶链反应（RT—PCR）检测神经纤维瘤蛋白mRNA．间接免疫荧光和Westemblot检测神经纤维瘤蛋白在成骨细胞和软骨细胞中的表达。结果：先天性脊柱侧凸患者成骨细胞和软骨细胞中存在Ⅱ型神经纤维瘤蛋白表达，该蛋白主要分布在细胞浆，所表达蛋白为三磷酸鸟苷酶活化蛋白（GAP）活性较弱的Ⅱ型异构体。结论：先天性脊柱侧凸患者成骨细胞和软骨细胞中存在神经纤维瘤蛋白表达，但该蛋白是否通过对成骨细胞和软骨细胞的影响导致骨骼系统异常还有待于进一步研究。     

Effect of a patellar realignment brace on patellofemoral relationships: Evaluation with kinematic MR imaging

The effect of a newly developed patellar realignment brace was evaluated in 21 patellofemoral joints (19 patients) with patellar subluxation (13 joints with lateral subluxation and eight with medial subluxation) by using active-movement, loaded kinematic magnetic resonance (MR) imaging. Sixteen patellofemoral joints (76%) demonstrated a qualitative correction of or improvement in patellar subluxation (ie, centralization of the patella or a decrease in the displacement of the patella) after application of the brace. Four of the five “failures” occurred in patellofemoral joints that had patella alta and/or dysplastic bone anatomy. These results indicate that the patellar realignment brace was able to counteract patellar subluxation in the majority of patellofemoral joints studied, as shown by active-movement, loaded kinematic MR imaging. This brace appears to be useful for conservative treatment of patients with patellofemoral joint pain secondary to patellar malalignment and maltracking.     

Efficacy of radiology of the esophagus for evaluation of dysphagia

The efficacy of radiology in evaluating dysphagia was studied in 86 patients by comparison to endoscopic findings. In the 66 patients with endoscopic abnormalities radiology was correct in 54, for a sensitivity of 82%. Sensitivity of radiology improved to 95% if mild esophagitis was excluded. In the 20 patients with normal endoscopy, radiology was normal in 18 (90%). Thus radiology proved to be a reliable means of evaluating the esophagus in patients with dysphagia.     

肝硬化患者凝血障碍与内毒素血症

本文通过多项止凝血实验指标和鲎试验对20例失代偿性肝硬化患者进行动态观察,发现血浆内毒素水平和ⅧR:Ag均增高.其他凝血因子和ATⅢ减低.纤维蛋白连接素减低.结果提示:(1)止凝血功能障碍与内毒素血症(ETM)并存,并与疾病的进展密切有关;(2)ETM的发生率和严重程度与肝硬化失代偿的程度有关;(3)ETM和止凝血功能异常的动态观察可作为判断预后的一项参考指标     

Haemoglobin A1 and congenital malformation

Two hundred and thirty pregnancies were studied in 196 diabetic women. Seven women with babies found to have major malformations had a higher median first trimester haemoglobin A1 (12.9%) than the median HbA1 (10.8%) in those with normal babies (p = 0.06). No relationship was found between the occurrence of minor malformations and first trimester maternal haemoglobin A1. Two of the seven congenital malformations were diagnosed antenatally at a time when therapeutic abortion could be offered. Expert antenatal ultrasound scanning should be offered to all pregnant diabetic women as poor glycaemic control at the time of conception and organogenesis, as evidenced by raised first trimester HbA1, predisposes to congenital malformation.     

Overview of the Clinical Efficacy of Lamotrigine

Summary: Testing the efficacy of lamotrigine (LTG) in epileptic patients has been approached in several ways. The first pilot study examined the effect of a single dose of LTG in patients with frequent interictal spikes, and a reduction in spike frequency was observed. Subsequently, single doses reduced photosensitivity in appropriate patients. Single-blind administration of LTG for 1 week in addition to the patients' regular antiepileptic drugs (AEDs), in patients with refractory seizures, reduced seizures despite the short duration of therapy. This regimen was continued using a placebo-controlled crossover study with 1-week duration of treatment. Efficacy in partial and tonic-clonic seizures was subsequently confirmed in four double-blind crossover studies; a meta-analysis of these four studies showed a 30% reduction in partial seizures despite the intractable nature of the seizures in the patients included. Current studies aim at evaluating the drug as monotherapy and in different seizure types.     

经肘外侧入路治疗Gartland Ⅲ型肱骨髁上骨折

1995年1月～2006年6月，我院采用肘外侧纵形切口、交叉克氏针内固定治疗Gartlandm型肱骨髁上骨折96例，取得较好效果。     

Iniencephaly and long-term survival: a rare case report

Introduction Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus–newborn with a 0.1–10 of 10,000 prevalence. This abnormality’s prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia. Discussion Most of the patients are dead born, and the others die in a few hours. There are only six previously documented long-term survivors. In our case, our patient with iniencephalic signs and findings is still living. She is 2 years old now. We think that this patient presents a mild form of iniencephaly.     

Disappearance of Tophi in Familial Juvenile Hyperuricemic Nephropathy after Kidney Transplantation

A 40-year-old man who had been on hemodialysis for 25 months due to familial juvenile hyperuricemic nephropathy (FJHN) received a kidney transplant. Biopsy of his native kidney had shown tubulo-interstitial nephropathy. Genetic analysis confirmed abnormal uromodulin expression due to a mutation in the exon 4 of the UMOD gene. He had multiple tophi on the day of transplantation, including some on his fingers. He received immunosuppressive treatment including polyclonal antilymphocyte antibodies, mycophenolate mofetil, steroids and cyclosporine and achieved excellent renal function, with serum creatinine at 13 mg/L on day 10 posttransplantation and 9.4 mg/L at 6 months. His uric acid excretion rate increased from 4.4% at day 2 posttransplantation to 7.7% 6 months after transplantation. The number and sizes of the tophi were reduced 3 months posttransplantation, and nearly disappeared at month 6. Serum uric acid level decreased slowly from 650 mumol/L before transplantation to 300 mumol/L. Reduction of tophi was probably due to the absence of the mutated UMOD gene in the transplanted kidney.