Diseases involving the heart and kidney in children and adults]

An association of renal and cardiac manifestations can be observed in a variety of diseases. The pathogenetic factors may include, firstly, a disturbance of organ development due to chromosomal aberration or an underlying syndrome or, secondly, infectious, immunologic and metabolic factors. In addition, primarily isolated diseases of the heart or the kidney may lead to damage of the previously unaffected organ. The present article gives a review on renal diseases associated with heart diseases in children and adults.     

人体液中喷布洛尔及其代谢物的GC/MS分析

用气相色谱一质谱联用(GC-MSD)系统分析方法检出了人尿中喷布洛尔的6个羟化代谢物,用Scp-Pak柱提取的方法检出了人血浆中的原型药物。并从分子结构上对此药物的代谢途径进行了研究。尿中提取和血中提取的回收率分别为90.83.%和85.88%,Gc-MSD的检测限为5pg。本方法适用于运动员兴奋剂的系统检查。     

Simple reaction time event-related potentials: Effects of alcohol and diazepam

1. 1. Acute effects of alcohol and diazepam on reaction time (RT) and event-related potential (ERP) measures were examined in 108 healthy male volunteers.

2. 2. The subjects engaged in a simple RT task at two levels of stimulus intensity during baseline and treatment sessions.

3. 3. Lower stimulus intensity produced increased RTs, increased ERP peak latencies, and suppression of peak amplitudes.

4. 4. Moderate and high doses of alcohol, and high doses of diazepam produced increased RTs. Alcohol suppressed P100 and N100 amplitudes, while diazepam suppressed P100 amplitudes only. P100 amplitudes were correlated to RTs under baseline and treatment conditions.

5. 5. These results were taken as evidence for impaired stimulus detection during alcohol and diazepam intoxication, with both drugs influencing sensory-perceptual processes and alcohol alone influencing the degree of attentiveness.

Post-renal transplant erythrocytosis in a child

We report the case of a 7-year-old boy who developed severe erythrocytosis 4 months after successful kidney transplantation, with a well-functioning graft. When the haematocrit rose above 60%, phlebotomy had to be performed once to twice a week in order to keep the haematocrit below 50%. A 3-month course of theophylline therapy did not influence the erythrocytosis significantly. There were 5 further patients with erythrocytosis out of 186 children who had undergone kidney transplantation at our centre.     

Use of the Z-Plasty Technique for Forehead Defects

BACKGROUND: Surgical defects of the forehead are commonplace for the Mohs surgeon. The relaxed skin tension lines (RSTLs) of this region allow for repairs ranging from direct linear closures to more complex advancement flaps. Defects in which the longitudinal axis orients perpendicular to the RSTLs, whether secondary to wound shape or ease of tissue movement, present a somewhat more challenging problem. OBJECTIVE: To describe the use of the Z-plasty in repairing forehead surgical defects. METHOD: We illustrate two Mohs surgical cases in which the size and location of the forehead defect did not allow for a straightforward and cosmetically acceptable closure. Tissue mobility and defect shape permitted design and implementation of a Z-plasty. RESULTS: Use of the Z-plasty technique allowed a portion of the vertical incision line to be reoriented within the forehead RSTLs, producing a favorable cosmetic outcome. CONCLUSION: Forehead defects that are shaped such that the long axis is perpendicular to the RSTLs or located in a region where tissue mobility more easily permits a vertical closure can present a challenge for the reconstructive surgeon. Knowledge of tissue mechanics and use of rotation and advancement make the Z-plasty a favorable option in many of these situations.     

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability

X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene. Disease-associated alleles (37-66 CAGs) change in length when transmitted from parents to offspring, with a significantly greater tendency to shift size when inherited paternally. As transgenic mice carrying human AR cDNAs with 45 and 66 CAG repeats do not display repeat instability, we attempted to model trinucleotide repeat instability by generating transgenic mice with yeast artificial chromosomes (YACs) carrying AR CAG repeat expansions in their genomic context. Studies of independent lines of AR YAC transgenic mice with CAG 45 alleles reveal intergenerational instability at an overall rate of approximately 10%. We also find that the 45 CAG repeat tracts are significantly more unstable with maternal transmission and as the transmitting mother ages. Of all the CAG/CTG repeat transgenic mice produced to date the AR YAC CAG 45 mice are unstable with the smallest trinucleotide repeat mutations, suggesting that the length threshold for repeat instability in the mouse may be lowered by including the appropriate flanking human DNA sequences. By sequence-tagged site content analysis and long range mapping we determined that one unstable transgenic line has integrated an approximately 70 kb segment of the AR locus due to fragmentation of the AR YAC. Identification of the cis - acting elements that permit CAG tract instability and the trans -acting factors that modulate repeat instability in the AR YAC CAG 45 mice may provide insights into the molecular basis of trinucleotide repeat instability in humans.      

Do Treatment Plans Matter? Moving From Recommendations to Action

We investigated whether a service-planning document outlining recommendations for what providers should address in treatment (i.e., targets) and the associated clinical techniques they should employ (i.e., practices) influenced the targets and practices that providers reported actually implementing during the subsequent treatment episode. Participants included 94 youths ages 4 to 17 (M = 13.57, SD = 3.59) who received community-based mental health services from the Hawai'i Child and Adolescent Mental Health Division. Data on targets and practices were compared across initial Mental Health Treatment Plans and Monthly Treatment and Progress Summaries. Data were analyzed using two-level, generalized mixed effects models with two-way cross-classification or linear mixed effects models. Providers were more likely to report the use of targets and practices in treatment if they were included within the treatment plan. In addition, the more closely targets addressed during treatment followed the recommended targets from the treatment plan, the more closely implemented practices followed the recommended practices listed in the treatment plan. Furthermore, as providers shifted their focus to different targets, a shift in their use of practices was also evident over time. Last, practices for which there is demonstrated efficacy for particular targets were more likely to be used. Service planning documents appear to help organize care; however, results also suggest possible limitations to the current system. These findings highlight potential areas for improvement in planning and care delivery.