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Benjamin?SC?WadeEmail author Shantanu?H?Joshi Martin?Reuter Jonathan?D?Blumenthal Arthur?W?Toga Paul?M?Thompson Jay?N?Giedd 《Biology of sex differences》2014,5(1):16
Background
Supernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual’s karyotype; they affect around 1 in 400 individuals. Although there is high variability, each sSCA subtype has a characteristic set of cognitive and physical phenotypes. Here, we investigated the differences in the morphometry of the human corpus callosum (CC) between sex-matched controls 46,XY (N =99), 46,XX (N =93), and six unique sSCA karyotypes: 47,XYY (N =29), 47,XXY (N =58), 48,XXYY (N =20), 47,XXX (N =30), 48,XXXY (N =5), and 49,XXXXY (N =6).Methods
We investigated CC morphometry using local and global area, local curvature of the CC boundary, and between-landmark distance analysis (BLDA). We hypothesized that CC morphometry would vary differentially along a proposed spectrum of Y:X chromosome ratio with supernumerary Y karyotypes having the largest CC areas and supernumerary X karyotypes having significantly smaller CC areas. To investigate this, we defined an sSCA spectrum based on a descending Y:X karyotype ratio: 47,XYY, 46,XY, 48,XXYY, 47,XXY, 48,XXXY, 49,XXXXY, 46,XX, 47,XXX. We similarly explored the effects of both X and Y chromosome numbers within sex. Results of shape-based metrics were analyzed using permutation tests consisting of 5,000 iterations.Results
Several subregional areas, local curvature, and BLDs differed between groups.Moderate associations were found between area and curvature in relation to the spectrum and X and Y chromosome counts. BLD was strongly associated with X chromosome count in both male and female groups.Conclusions
Our results suggest that X- and Y-linked genes have differential effects on CC morphometry. To our knowledge, this is the first study to compare CC morphometry across these extremely rare groups.45.
Osteoclast cell-surface changes during the egg-laying cycle in Japanese quail 总被引:1,自引:1,他引:1 下载免费PDF全文
SC Miller 《The Journal of cell biology》1977,75(1):104-118
The medullary bone serves as a source of labile calcium mobilized during calcification of the egg shell in birds. Quantitative histological methods demonstrate that the numbers of medullary bone osteoclasts and nuclei per osteoclast remain unchanged during the egg cycle in the Japanese quail (Coturnix). Therefore, cyclic changes in bone resorption cannot be explained by modulations of osteoclasts from and into other bone cells, a mechanism previously suggested for certain species of birds. Rather, dramatic changes in osteoclast cell-surface features occur during the egg cycle, which might account for cyclic variations in resorptive activity. During egg shell calcification, osteoclasts with ruffled borders are closely apposed to bone surfaces; the cytoplasm is rich in vacuoles that contain mineral crystals and seem to derive from the ruffled border. At the completion of egg shell calcification, the ruffled borders and vacuoles move away from the bone surface, although the osteoclast remains attached to the bone along the filamentous or "clear" zone. Associated with the disappearance of the ruffled borders is the appearance of extensive interdigitated cell processes along the peripheral surface of the osteoclast away from the bone. These unusual structures, which may serve as a reservoir of membrane, largely disappear when ruffled borders and associated structures reappear. Therefore, in these hens, the osteoclasts modulate their cell surface rather than their population during the egg cycle. 相似文献
46.
Colleen G Canning Cathie Sherrington Stephen R Lord Victor SC Fung Jacqueline CT Close Mark D Latt Kirsten Howard Natalie E Allen Sandra D O'Rourke Susan M Murray 《BMC neurology》2009,9(1):4-7
Background
People with Parkinson's disease are twice as likely to be recurrent fallers compared to other older people. As these falls have devastating consequences, there is an urgent need to identify and test innovative interventions with the potential to reduce falls in people with Parkinson's disease. The main objective of this randomised controlled trial is to determine whether fall rates can be reduced in people with Parkinson's disease using exercise targeting three potentially remediable risk factors for falls (reduced balance, reduced leg muscle strength and freezing of gait). In addition we will establish the cost effectiveness of the exercise program from the health provider's perspective.Methods/Design
230 community-dwelling participants with idiopathic Parkinson's disease will be recruited. Eligible participants will also have a history of falls or be identified as being at risk of falls on assessment. Participants will be randomly allocated to a usual-care control group or an intervention group which will undertake weight-bearing balance and strengthening exercises and use cueing strategies to address freezing of gait. The intervention group will choose between the home-based or support group-based mode of the program. Participants in both groups will receive standardized falls prevention advice. The primary outcome measure will be fall rates. Participants will record falls and medical interventions in a diary for the duration of the 6-month intervention period. Secondary measures include the Parkinson's Disease Falls Risk Score, maximal leg muscle strength, standing balance, the Short Physical Performance Battery, freezing of gait, health and well being, habitual physical activity and positive and negative affect schedule.Discussion
No adequately powered studies have investigated exercise interventions aimed at reducing falls in people with Parkinson's disease. This trial will determine the effectiveness of the exercise intervention in reducing falls and its cost effectiveness. This pragmatic program, if found to be effective, has the potential to be implemented within existing community services.Trial registration
The protocol for this study is registered with the Australian New Zealand Clinical Trials Registry (ACTRN12608000303347). 相似文献47.
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Tempo and mode of concerted evolution in the L1 repeat family of mice 总被引:10,自引:0,他引:10
Martin SL; Voliva CF; Hardies SC; Edgell MH; Hutchison CA d 《Molecular biology and evolution》1985,2(2):127-140
A 300-bp DNA sequence has been determined for 30 (10 from each of three
species of mice) random isolates of a subset of the long interspersed
repeat family L1. From these data we conclude that members of the L1 family
are evolving in concert at the DNA sequence level in Mus domesticus, Mus
caroli, and Mus platythrix. The mechanism responsible for this phenomenon
may be either duplicative transposition, gene conversion, or a combination
of the two. The amount of intraspecies divergence averages 4.4%, although
between species base substitutions accumulate at the rate of approximately
0.85%/Myr to a maximum divergence of 9.1% between M. platythrix and both M.
domesticus and M. caroli. Parsimony analysis reveals that the M. platythrix
L1 family has evolved into a distinct clade in the 10-12 Myr since M.
platythrix last shared a common ancestor with M. domesticus and M. caroli.
The parsimony tree also provides a means to derive the average half-life of
L1 sequences in the genome. The rates of gain and loss of individual copies
of L1 were estimated to be approximately equal, such that approximately
one-half of them turn over every 3.3 Myr.
相似文献
50.
V?Srinivasan GJM?Maestroni DP?Cardinali AI?Esquifino SR?Pandi?Perumal SC?MillerEmail author 《Immunity & ageing : I & A》2005,2(1):17
Aging is associated with a decline in immune function (immunosenescence), a situation known to correlate with increased incidence
of cancer, infectious and degenerative diseases. Innate, cellular and humoral immunity all exhibit increased deterioration
with age. A decrease in functional competence of individual natural killer (NK) cells is found with advancing age. Macrophages
and granulocytes show functional decline in aging as evidenced by their diminished phagocytic activity and impairment of superoxide
generation. There is also marked shift in cytokine profile as age advances, e.g., CD3+ and CD4+ cells decline in number whereas
CD8+ cells increase in elderly individuals. A decline in organ specific antibodies occurs causing reduced humoral responsiveness.
Circulating melatonin decreases with age and in recent years much interest has been focused on its immunomodulatory effect.
Melatonin stimulates the production of progenitor cells for granulocytes-macrophages. It also stimulates the production of
NK cells and CD4+ cells and inhibits CD8+ cells. The production and release of various cytokines from NK cells and T-helper
lymphocytes also are enhanced by melatonin. Melatonin presumably regulates immune function by acting on the immune-opioid
network, by affecting G protein-cAMP signal pathway and by regulating intracellular glutathione levels. Melatonin has the
potential therapeutic value to enhance immune function in aged individuals and in patients in an immunocompromised state. 相似文献