Juvenile Parkinsonism: clinical and metabolic characteristics.

Twenty one patients with idiopathic Parkinsonism beginning before the age of 40 years were investigated. The mean duration of the disease was 19 years. There was a good and sustained response to levodopa. Only four patients reached stages IV and V (Hoehn and Yahr). Intolerance to levodopa was observed in the more advanced stages of the disease. In the series the familial incidence of Parkinsonism (2 cases) and essential tremor (3 cases) was very low. Thyroid disorder, diabetes mellitus or macrocytic anaemia was not found in any of the cases.     

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。     

Comfort. Immigrant Hispanic cancer patients' views.

This study focuses on the meaning of comfort from the perspective of immigrant Hispanic cancer patients undergoing treatment at a large Western medical center. Patients (n = 10), in 30 ethnographical interviews conducted in Spanish by a culturally sensitive interviewer identified characteristics, needs, and sources of comfort. The characteristics of comfort were: feeling integrated, functioning and normalcy, care and nurturing, security and safety, control and "comodo." Comfort needs evolved into 6 categories: nurturing, familiar environment, safety, quality of life, normalcy, and "animo." Providers of comfort, as perceived by these Hispanic patients were: self, family, health care providers, and God. The characteristics of comfort most frequently talked about by the Hispanic participants were feeling integrated and nurtured. Integrated, a seemingly complex characteristic of comfort, reflected a sense of inner peace with oneself that went beyond the physical comfort. Function and normalcy were also perceived to be important aspects of comfort. It is important to note that the Hispanic patients on occasion used culturally relevant terms, such as comodo and animo (neither of which are readily translated into English) to convey their impressions of comfort. The study demonstrates that comfort is important in illness and cancer treatment situations, and that for these Hispanic patients it also had influence from their culture.     

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.      

Association between atopy and recurrent vaginal candidiasis

To determine whether there is an association between atopy and recurrent vaginal candidiasis (RVC) and to evaluate the type-2 immune response in patients with RVC. Evaluation of immediate hypersensitivity skin tests to aeroallergens, measurement of total IgE and Candida albicans specific IgE and levels of IL-5 in 44 women with RVC and 26 with sporadic vaginal candidiasis (SVC). Statistical analyses were performed by Mann-Whitney test and chi(2) test with Yates correction. History of atopy (68%) and positive skin test (42%) were higher (P < 0.05) in RVC than in patients with SVC. No significant difference was found in total IgE, C. albicans specific IgE and IL-5 levels. There was a strong association between atopy and RVC, but type-2 immune response to C. albicans antigen was absent or similar in the two groups of patients.