An autopsied case of Williams syndrome complicated by moyamoya disease

An 18 year old girl with typical clinical features of Williams syndrome suddenly died of intracerebral hemorrhage due to moyamoya disease. Autopsy revealed vascular abnormalities, such as supravalvular aortic stenosis (SAS) and an abnormal complicated cerebrovascular network in the cerebral arteries. The arterial wall of the SAS lesion consisted of thickened medial tissue showing elastic disorganization with prominence of the smooth muscle cells. The narrowed vessels of the circle of Willis showed intimal thickening with an extremely wavy internal elastic lamina and marked thinning of the media. To our knowledge, this is the first report of moyamoya disease associated with Williams syndrome.     

A case of biliary stricture caused by cavernous transformation of the portal vein

A case is reported of extrahepatic obstruction of the portal vein with the unusual complication of obstructive jaundice that resulted from compression of the common bile duct caused by cavernous transformation of the varicose network. It is surgically impossible to repair choledochal stenosis resulting from enlarged varices in the vicinity of the common bile duct. In this case, internal drainage from the biliary duct to the duodenum using a silastic tube and a reservoir implanted in the subcutaneous space successfully eliminated the jaundice.     

Indirect hemagglutination assay for antibodies to Escherichia coli lipopolysaccharides O157, O111 and O26 in patients with hemolytic uremic syndrome

We examined sera from 10 patients with hemolytic uremic syndrome (HUS) and 51 controls, with and without diarrhea, for antibodies to Escherichia coli lipopolysaccharides (LPS) O157, O111 and O26 using the indirect hemagglutination (IHA) assay. A significant rise (to a titer of ≥ 2560) in IHA antibody to O157 LPS was detected in eight of the 10 HUS patients, to O111 in two patients, one of whom showed concomitantly an antibody rise to O157, but to O26 in no patients. The IHA titers fell rapidly after the acute phase of the illness. Of the control sera 15 (29.4%) non-specifically agglutinated uncoated sheep red blood cells (SRBC) at a titer of ≥80, six (3.9%) at ≥320 and the maximum was 640. In spite of the relatively low level of non-specific agglutination the IHA appeared to be a useful screening method to identify verotoxin-producing E. coli infections at the early stage of HUS because the titers were clearly higher than non-specific agglutination and the assay is easy to perform and gives results quickly. Artificial carriers are being considered for use in place of SRBC to diminish the non-specific hemagglutination.     

A case of distal 9q trisomy syndrome associated with an unusual inheritance of ABO blood type

A male infant with distal 9q trisomy syndrome associated with an unusual inheritance of ABO blood type is reported. His clinical features were concordant with those of distal 9q trisomy syndrome. His karyotype was 46,XY, ?10, +der (10) t(9;10) (q22.3;q24.3) confirmed by G-banding and high resolution methods. His father had the balanced translocation t(9;10) (q22.3;924.3). He had a blood type of AB, despite his father's blood type of AB and his mother's blood type of O. The gene of ABO blood type is located at 9q34.1-q34.2. Therefore, he would have received A and B type alleles from his father. 9q trisomy syndrome should be carefully investigated with ABO blood type.     

Search for a Susceptibility Locus to Tardive Dyskinesia

In order to find a genetic marker for vulnerability to tardive dyskinesia (TD), we looked for an association between vulnerability to TD and polymorphic sites in the gene loci encoding the dopamine D2 receptor (Nco I site), the dopamine D3 receptor (Bal I site), and the dopamine transporter (40-bp, tandem repeat polymorphism). No significant difference was observed in the allele and genotype frequencies of any of the polymorphic sites examined, when comparing psychiatric patients who were specifically vulnerable to TD (n = 49) and those who were not (n = 56). These results suggest that the polymorphic gene loci examined in the present study are unlikely to be of major aetiologic importance in the development of TD. © 1997 John Wiley & Sons, Ltd.     

Usefulness of the Adenosine Triphosphate with a Sufficient Observation Period for Detecting Reconduction after Pulmonary Vein Isolation

Background: Although reconduction after pulmonary vein (PV) isolation is considered to play a key role in the recurrence of paroxysmal atrial fibrillation (AF), there have been few reports regarding the precise time course of early reconduction. Several studies have suggested that transient PV reconduction facilitated by adenosine may predict long-term AF recurrence. This study was designed to clarify the incidence and time course of early reconduction after PVI during the procedure and to confirm whether the use of ATP after a certain observation period was useful to detect early reconduction after PVI.
Methods: In 21 patients (18 males, 56 ± 11 years) with drug refractory AF, radiofrequency circumferential PV antrum ablation was performed in all 4 PVs. After the completion of isolation, electrograms in each PV were repeatedly recorded (1.98 ± 0.57 times per PV) using a circular mapping catheter for an observation period of 87 ± 29 minutes. After isolation of all 4 PVs, 30 mg of adenosine triphosphate (ATP) was administered during isoproterenol infusion.
Results: PV electrical isolation was initially achieved in all 81 PVs. During the observation period, 12 (15%) PVs in 10 (48%) of 21 patients exhibited spontaneous reconduction. Among the remaining 69 PVs, 8 (12%) additional PVs had reconduction with the use of ATP. All PV reconduction was successfully eliminated by 4.5 ± 2.2 additional radiofrequency applications.
Conclusion: A sufficient observation period and the use of ATP are useful to detect early reconduction after PV isolation.     

中国静脉留置针肝素钠封管与生理盐水封管效果比较的Meta分析

目的评价中国外周浅静脉留置针用生理盐水封管与用肝素钠封管的效果。方法采用Cochrane系统评价的方法,计算机检索中国学术期刊网全文数据库(1994～2009.12)和万方科技期刊全文数据库(1990～2009.12),查找比较生理盐水与肝素钠封管的RCT,对纳入RCT进行质量评价并提取有效数据,采用RevMan5.0软件进行Meta分析。结果共纳入9个RCT,合计1770例患者。Meta分析结果显示:①肝素钠封管在降低留置针堵管率方面优于生理盐水封管,其差异有统计学意义[OR=0.44,95%CI(0.32,0.62),P<0.05]。②在静脉炎发生率方面,两者差异无统计学意义[OR=1.26,95%CI(0.64,2.50),P>0.05]。③在平均留置时间上,两者差异有统计学意义[WMD=0.24,95%CI(0.04,0.43),P<0.05],肝素钠封管优于生理盐水封管。结论本系统评价结果显示,肝素钠封管在降低静脉留置针的堵管率和延长留置时间方面优于生理盐水,但是在预防静脉炎的发生方面两者无明显差异。     

Effects of uroguanylin on natriuresis in experimental nephrotic rats

Aim:   Uroguanylin, isolated from human and opossum urine, is a candidate intestinal natriuretic hormone that controls the sodium and water balance between the intestine and the kidneys. Levels of immunoreactive (ir)-uroguanylin in the plasma and urine are increased in rats and humans with nephrotic syndrome, which is physiologically characterized by sodium retention with massive proteinuria. The present study evaluates the effect of natriuresis induced by uroguanylin on nephrotic rats.
Methods:   Normal rats and rats rendered nephrotic by injections of puromycin aminonucleoside (PAN) were treated with uroguanylin (0.5 nmol/h, delivered by an osmotic pump) or with vehicle during the sodium retention phase. All rats consumed the same quantity of sodium.
Results:   Uroguanylin did not increase urinary excretion of sodium and water in normal rats, but significantly increased urinary sodium excretion during the sodium retention phase in nephrotic rats (untreated vs uroguanylin-treated nephrotic rats in mmol/mmol creatinine; 2.92 ± 0.65 vs 8.93 ± 2.53 on day 6, P  < 0.05; 3.55 ± 0.47 vs 10.37 ± 1.73 on day 7, P  < 0.01; 14.88 ± 2.32 vs 24.47 ± 2.86 on day 8, P  < 0.05). Plasma levels of ir-uroguanylin in uroguanylin-treated nephrotic rats on day 6 were significantly increased compared with those in uroguanylin-treated control and untreated nephrotic rats.
Conclusion:   Uroguanylin increased urinary sodium excretion in rats with PAN-induced nephrosis, and might be useful for treating sodium retention in patients with nephrotic syndrome.     

Kidney transplantation and liaison psychiatry, part I: Anxiety before, and the prevalence rate of psychiatric disorders before and after, transplantation

Abstract  Abstract We examined psychiatric problems before and after kidney transplantation in a sample of 36 patients with end-stage renal failure. The prevalence rate of psychiatric disorders was 11.1|X% (4 of 36 cases) before the transplantation and 36.1|X% (13 of 36 cases) within 2 months after the transplantation. Except for a patient with schizophrenic disorder, no patients were found to have a psychiatric disorder from 2 to 6 months after the transplantation. In this study, we also examined anxieties and/or conflicts related to the transplantation using the synthetic house-tree-person (HTP) drawing test, a measure of mood states by means of a nonverbal expression method. The upper part of the tree trunk was not drawn in 25|X% of this sample (5 of 20 cases). In the HTP drawing tests immediately after the transplantation, however, trees missing the upper part of trunk were not drawn. Based on these findings, we discussed psychiatric problems in kidney transplantation.