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Given that knowledge regarding the etiology of comorbidity between disorders can have a significant impact on research regarding the classification, treatment, and etiology of the disorders, the ability to reject incorrect hypotheses regarding the causes of comorbidity is very important. A simulation study was conducted to assess the validity of the Neale and Kendler (1995) model-fitting approach in examining the etiology of comorbidity between two disorders. First, data were simulated under the assumptions of the 13 alternative comorbidity models described by Neale and Kendler. Second, model-fitting analyses testing the comorbidity models were conducted on the simulated datasets. Thirteen sets of data with varying model parameters were simulated to test Neale and Kendler's assertion that their model-fitting approach is appropriate across a range of potential prevalences and degrees of familiality. The validity of the model-fitting approach in examining unselected twin data and a combination of selected family data and unselected family data was explored. The model-fitting approach successfully discriminated several classes of comorbidity models, although discrimination between models within classes of related models was less accurate. Results suggest that the model-fitting approach can be a useful tool in examining the etiology of the comorbidity between disorders if the caveats of the present study's results are considered carefully. As predicted by Neale and Kendler, variations in the disorder prevalences and familial correlations did not affect the validity of their model-fitting approach, but affected the power to discriminate the correct model. As suggested by Neale and Kendler, the model-fitting approach can be applied to both unselected and selected data and to both twin and family data. 相似文献
4.
Calcium ionophore-induced acrosome reaction correlates with fertilization rates in vitro in patients with teratozoospermic semen 总被引:5,自引:3,他引:5
The aim of this study was to determine the relationship between calcium
ionophore A23187-induced acrosome reaction (AR) and sperm fertilizing
ability. Semen samples remaining after preparation for standard IVF were
studied in 109 patients who had sperm concentrations > or =20 x
10(6)/ml. Ionophore-induced AR was performed on motile spermatozoa selected
by centrifugation on a Percoll gradient. Semen analysis was performed using
standard methods. Patients with higher (>50%, n = 76) fertilization
rates had significantly higher ionophore-induced AR than patients with
lower (<50%, n = 33) fertilization rates (49 +/- 14 versus 38 +/- 21%, P
< 0.05). When the data from all patients were analysed by logistic
regression, only the percentage sperm motility in insemination medium and
ionophore-induced AR were significantly related to fertilization rates.
Similar results were also obtained when the data from a subgroup of
patients with poor (<15% normal) sperm morphology were analysed.
However, when patients with normal sperm morphology > or =15% were
analysed separately, only sperm count and the percentage of spermatozoa
with progressive motility in semen were significantly related to
fertilization rates. In conclusion, ionophore- induced AR was significantly
related to fertilization rates in vitro mainly in patients with
teratozoospermic semen. Tests for ionophore- induced AR may provide
additional information about sperm fertilizing ability but may not indicate
specific defects of the physiological AR.
相似文献
5.
Detection of reactive oxygen species (ROS) and apoptosis in human fragmented embryos 总被引:8,自引:2,他引:8
Yang HW; Hwang KJ; Kwon HC; Kim HS; Choi KW; Oh KS 《Human reproduction (Oxford, England)》1998,13(4):998-1002
In human in-vitro fertilization (IVF)-embryo transfer, the in-vitro culture
environment differs from in-vivo conditions in that the oxygen
concentration is higher, and in such conditions the mouse embryos show a
higher concentration of reactive oxygen species (ROS) in simple culture
media. ROS are believed to cause damage to cell membranes and DNA
fragmentation in somatic cells. This study was conducted to ascertain the
level of H2O2 concentration within embryos and the morphological features
of cell damage induced by H2O2. A total of 62 human oocytes and embryos (31
fragmented, 15 non-fragmented embryos, 16 unfertilized oocytes) was
obtained from the IVF-embryo transfer programme. The relative intensity of
H2O2 concentrations within embryos was measured using
2',7'-dichlorodihydrofluorescein diacetate by Quanti cell 500 fluorescence
imaging and DNA fragmentation was observed with transmission electron
microscopy and an in-situ apoptosis detection kit. The H2O2 concentrations
were significantly higher in fragmented embryos (72.21 +/- 9.62, mean +/-
SEM) compared to non-fragmented embryos (31.30 +/- 3.50, P < 0.05) and
unfertilized oocytes (30.75 +/- 2.67, P < 0.05). Apoptosis was observed
only in fragmented embryos, and was absent in non-fragmented embryos.
Electron microscopic findings confirmed apoptotic bodies and cytoplasmic
condensation in the fragmented blastomeres. We conclude that there is a
direct relationship between increased H2O2 concentration and apoptosis, and
that further studies should be undertaken to confirm these findings.
相似文献
6.
Stein TP; Oram-Smith JC; Leskiw MJ; Wallace HW; Long LC; Leonard JM 《The American journal of physiology》1976,230(5):1321-1325
7.
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity 总被引:13,自引:5,他引:13
Eichler EE; Budarf ML; Rocchi M; Deaven LL; Doggett NA; Baldini A; Nelson DL; Mohrenweiser HW 《Human molecular genetics》1997,6(7):991-1002
A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD)
locus of the X chromosome has duplicated to specific locations near the
pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11.
Comparative sequence analysis reveals 92-96% nucleotide identity,
indicating that the autosomal ALD paralogs arose relatively recently during
the course of higher primate evolution (5-10 million years ago). Analysis
of sequences flanking the duplication region identifies the presence of an
unusual GCTTTTTGC repeat which may be a sequence-specific integration site
for the process of pericentromeric- directed transposition. The breakpoint
sequence and phylogenetic analysis predict a two-step transposition model,
in which a duplication from Xq28 to pericentromeric 2p11 occurred once,
followed by a rapid distribution of a larger duplicon cassette among the
pericentromeric regions. In addition to facilitating more effective
mutation detection among ALD patients, these findings provide further
insight into the molecular basis underlying a pericentromeric-directed
mechanism for non- homologous interchromosomal exchange.
相似文献
8.
Kelly BD Becker K Kermode V Stallings RL Murphy RP Green AJ Hillery J 《American journal of medical genetics》2002,112(2):217-220
We describe an adult male with severe learning disability, epilepsy, and dysmorphic features. Cytogenetic studies demonstrated a terminal duplication of the long arm of chromosome 17, resulting in partial trisomy 17q24-q25. Our patient shows some of the characteristic features of the distal 17q phenotype, but in addition has more unusual features such as epilepsy, sensorineural hearing loss, and long fingers and overlapping toes. We suggest that these features occur with terminal duplications of 17q. 相似文献
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Clarke GN; Bourne H; Hill P; Johnston WI; Speirs A; McBain JC; Baker HW 《Human reproduction (Oxford, England)》1997,12(4):722-726
Donor insemination (DI) using cryopreserved semen commenced at The Royal
Women's Hospital in 1976. Over the next 15 years we performed 5953
treatment cycles to achieve 816 pregnancies (13.7% per cycle) and 706 live
births. In-vitro fertilization (IVF) using donor spermatozoa commenced in
1986. Over the next 5 years we performed 303 treatment cycles for 185
couples. Including subsequent transfer of cryopreserved embryos, a total of
33% of couples achieved a successful pregnancy by IVF. Statistical analysis
indicated that, for DI pregnancies, the most important semen variable was
the percentage post-thaw motility, whilst for normal fertilization in IVF
it was the pre-freeze motility. These results may be explained by the
compensatory effects of post-thaw processing of spermatozoa for IVF, but
not for DI in our clinic.
相似文献