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1.
Ramshekhar N. Menon Nirav Sanghani Mahendra Javali Neeraj Jain Arun B. Shah 《Annals of Indian Academy of Neurology》2009,12(1):40-44
We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of intermittent diarrhea. Clinical examination revealed a pan-cerebellar syndrome with features of hypoandrogenism. No eye movement abnormalities were evident. There were signs of malabsorption. Investigations confirmed the presence of auto-antibodies found in celiac disease, and a duodenal biopsy confirmed the same. Hypoandrogenism was postulated to be due to hypergonadotropic hypogonadism which has been mentioned in a few patients of celiac disease. However, the pattern seen in our patient was of a hypogonadotropic hypogonadism. This is probably secondary to an autoimmune hypophysitis seen in some patients in the absence of other clinical manifestations. Autoantibody testing should be a diagnostic necessity in any adult with a sporadic cerebellar ataxia. 相似文献
2.
Mahendra Naik Anil Chadha Nayan Parekh Vatsal Patel 《Indian journal of otolaryngology and head and neck surgery》1991,43(1):17-22
Velopharyngeal incompetence (VPI) is a condition of incomplete closure of V.P. port area, normally formed by velum and posterior pharyngeal watt. The condition primarily results in various types of speech defects, which form- the main complaint of the patient. We have studied 10 cases of VPI due to various causes and the speech improvement obtained by flap pharyngoplasty procedures. The results have been evaluated with a follow-up of six months. Highly encouraging results only indicate a more frequent need to undertake such surgery without any hesitation if the ENT surgeon is familiar with and has an adequate exposure to this simple and effective procedure. 相似文献
3.
Jones DL Weiss SM Chitalu N Villar O Kumar M Bwalya V Mumbi M 《American journal of infectious diseases》2007,3(4):169-176
An estimated 38.6 million persons globally are living with HIV, of whom over 1.1 million reside in Zambia. Of the 2 million cases in the US, 64% of new cases among women are among African Americans. Alcohol and drug use represents a significant risk factor for HIV transmission among both Zambians and African Americans. In addition, gender dynamics in both the US and Zambia promote transmission. This study examines two interventions targeting HIV risk behavior among HIV positive substance users, women in Miami, USA (the New Opportunities for Women (NOW) Project) and men in Lusaka, Zambia (the Partner Project). The study compares the efficacy of these two culturally tailored sexual behavior interventions provided in group and individual session formats. US and Zambian participants increased sexual barrier use and reduced substance-related sexual risk. Comparatively greater gains were made by higher risk Zambian males than US females in both group and individual conditions. Among lower risk participants, women in the group condition achieved and sustained the greatest comparative risk reductions. Results suggest that cost effective group HIV transmission risk reduction interventions for multiethnic individuals can be successfully implemented among both female and male drug and alcohol users in multinational settings. 相似文献
4.
Rupture of the distal biceps tendon: evaluation with MR imaging 总被引:2,自引:0,他引:2
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6.
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability 总被引:1,自引:15,他引:1
La Spada AR; Peterson KR; Meadows SA; McClain ME; Jeng G; Chmelar RS; Haugen HA; Chen K; Singer MJ; Moore D; Trask BJ; Fischbeck KH; Clegg CH; McKnight GS 《Human molecular genetics》1998,7(6):959-967
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.
相似文献
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8.
It is well recognized that the ability to cryopreserve unfertilizedhuman oocytes would make a significant contribution to infertilitytreatment. However, despite considerable interest, very fewsuccessful pregnancies have arisen from cryopreserved oocytesafter thawing, insemination and transfer of the subsequent embryo.The reasons for this lack of progress may well result from adearth of information on how the various biophysical changesduring a cryopreservation regimen affect human oocyte function.Recently, fundamental studies on the effects of cooling, membranepermeability, cryoprotectant addition and ice formation havebeen performed on human oocytes by a number of groups, and theseform the basis of the current review. It is likely that successfulhuman oocyte cryopreservation will only follow once these factorsare fully understood, but the existing base of knowledge shouldprovide a platform for further improvements in the techniquescurrently employed. 相似文献
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