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排序方式: 共有1008条查询结果,搜索用时 15 毫秒
31.
KA Hodgkinson SP Connors N Merner A Haywood T‐L Young WJ McKenna B Gallagher F Curtis AS Bassett PS Parfrey 《Clinical genetics》2013,83(4):321-331
To determine the phenotype and natural history of a founder genetic subtype of autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a p.S358L mutation in TMEM43. The age of onset of cardiac symptoms, clinical events and test abnormalities were studied in 412 subjects (258 affected and 154 unaffected), all of which occurred in affected males significantly earlier and more often than unaffected males. Affected males were hospitalized four times more often than affected females (p ≤ 0.0001) and died younger (p ≤ 0.001). The temporal sequence from symptoms onset to death was prolonged in affected females by 1–2 decades. The most prevalent electrocardiogram (ECG) manifestation was poor R wave progression (PRWP), with affected males twice as likely to develop PRWP as affected females (p ≤ 0.05). Left ventricular enlargement (LVE) occurred in 43% of affected subjects, with 11% fulfilling criteria for dilated cardiomyopathy. Ventricular ectopy on Holter monitor was common and occurred early: the most diagnostically useful clinical test. No symptom or test could rule out diagnosis. This ARVC subtype is a sex‐influenced lethal arrhythmogenic cardiomyopathy, with a unique ECG finding, LV dilatation, heart failure and early death, where molecular pre‐symptomatic diagnosis has the greatest clinical utility. 相似文献
32.
Detection of chromosomes and estimation of aneuploidy in human spermatozoa using fluorescence in-situ hybridization 总被引:11,自引:0,他引:11
The development and application of fluorescence in-situ hybridization
(FISH) has opened the way for comprehensive studies on numerical chromosome
abnormalities in human spermatozoa. FISH can be rapidly applied to large
numbers of spermatozoa and thus overcomes the major limitation of
karyotyping spermatozoa after penetration of zona-free hamster oocytes. The
simultaneous hybridization of two or more chromosome-specific probes to
spermatozoa and subsequent detection of the bound probes using different
fluorescent detection systems enables two or more chromosomes to be
localized simultaneously in the same spermatozoon and provides a technique
for undertaking reasonable estimates of aneuploidy. The most commonly used
probes are those which bind to the centromeric region of specific
chromosomes. Most studies to date have concentrated on estimating
aneuploidy in spermatozoa from normospermic men, although reports are
beginning to appear on aneuploidy in spermatozoa from subfertile and
infertile men. Multi- probe FISH studies have generally reported disomy
(hyperhaploidy) estimates of 0.05-0.2% per chromosome. There is preliminary
evidence that some chromosomes such as X, Y and 21 are predisposed towards
higher rates of non-disjunction during spermatogenesis. There are also
suggestions of inter-donor variability in aneuploidy frequencies for
specific chromosomes, although this requires confirmation in larger
studies. While FISH is clearly a powerful technique that has many
applications in reproductive medicine, it must also be realized that it
does have limitations and the technology itself is still evolving and has
yet to be fully validated on spermatozoa.
相似文献
33.
In many neurons, trains of action potentials show frequency-dependent broadening. This broadening results from the voltage-dependent inactivation of K+ currents that contribute to action potential repolarisation. In different neuronal cell types these K+ currents have been shown to be either slowly inactivating delayed rectifier type currents or rapidly inactivating A-type voltage-gated K+ currents. Recent findings show that inactivation of a Ca2+ -dependent K+ current, mediated by large conductance BK-type channels, also contributes to spike broadening. Here, using whole-cell recordings in acute slices, we examine spike broadening in lateral amygdala projection neurons. Spike broadening is frequency dependent and is reversed by brief hyperpolarisations. This broadening is reduced by blockade of voltage-gated Ca2+ channels and BK channels. In contrast, broadening is not blocked by high concentrations of 4-aminopyridine (4-AP) or α-dendrotoxin. We conclude that while inactivation of BK-type Ca2+ -activated K+ channels contributes to spike broadening in lateral amygdala neurons, inactivation of another as yet unidentified outward current also plays a role. 相似文献
34.
Preliminary observations on polar body extrusion and pronuclear formation in human oocytes using time-lapse video cinematography 总被引:10,自引:17,他引:10
Payne D; Flaherty SP; Barry MF; Matthews CD 《Human reproduction (Oxford, England)》1997,12(3):532-541
In this study, we have used time-lapse video cinematography to study
fertilization in 50 human oocytes that had undergone intracytoplasmic sperm
injection (ICSI). Time-lapse recording commenced shortly after ICSI and
proceeded for 17-20 h. Oocytes were cultured in an environmental chamber
which was maintained under standard culture conditions. Overall, 38 oocytes
(76%) were fertilized normally, and the fertilization rate and embryo
quality were not significantly different from 487 sibling oocytes cultured
in a conventional incubator. Normal fertilization followed a defined course
of events, although the timing of these events varied markedly between
oocytes. In 35 of the 38 fertilized oocytes (92%), there were circular
waves of granulation within the ooplasm which had a periodicity of 20-53
min. The sperm head decondensed during this granulation phase. The second
polar body was then extruded, and this was followed by the central
formation of the male pronucleus. The female pronucleus formed in the
cytoplasm adjacent to the second polar body at the same time as, or
slightly after, the male pronucleus, and was subsequently drawn towards the
male pronucleus until the two abutted. Both pronuclei then increased in
size, the nucleoli moved around within the pronuclei and some nucleoli
coalesced. During pronuclear growth, the organelles contracted from the
cortex towards the centre of the oocyte, leaving a clear cortical zone. The
oocyte decreased in diameter from 112 to 106 microm (P < 0.0001) during
the course of the observation period. The female pronucleus was
significantly smaller in diameter than the male pronucleus (24.1 and 22.4
microm respectively, P = 0.008) and contained fewer nucleoli (4.2 and 7.0
respectively, P < 0.0001). After time-lapse recording, oocytes were
cultured for 48 h prior to embryo transfer or cryopreservation. Embryo
quality was related to fertilization events and periodicity of the
cytoplasmic wave, and it was found that good quality embryos arose from
oocytes that had more uniform timing from injection to pronuclear abuttal
and tended to have a longer cytoplasmic wave. In conclusion, we have shown
that time-lapse video cinematography is an excellent tool for studying
fertilization and early embryo development, and have demonstrated that
human fertilization comprises numerous complex dynamic events.
相似文献
35.
CJ Stewart ECL Marrs S Magorrian A Nelson C Lanyon JD Perry ND Embleton SP Cummings JE Berrington 《Acta paediatrica (Oslo, Norway : 1992)》2012,101(11):1121-1127
Aim: To describe gut colonization in preterm infants using standard culture and 16S gene rRNA profiling, exploring differences in healthy infants and those who developed NEC/late onset sepsis (LOS). Methods: Ninety‐nine stools from 38 infants of median 27‐week gestation were cultured; 44 stools from 27 infants had their microbial profiles determined by 16S. Ordination analyses explored effects of patient variables on gut communities. Results: Standard microbiological culture identified a mean of two organisms (range 0–7), DGGE 12 (range 3–18) per patient. Enterococcus faecalis and coagulase negative staphylococci (CONS) were most common by culture (40% and 39% of specimens). Meconium was not sterile. No fungi were cultured. Bacterial community structures in infants with NEC and LOS differed from healthy infants. Infants who developed NEC carried more CONS (45% vs 30%) and less Enterococcus faecalis (31% vs 57%). 16S identified Enterobacter and Staphylococcus presence associated with NEC/LOS, respectively. Conclusions: Important differences were found in the gut microbiota of preterm infants who develop NEC/LOS. The relationship of these changes to current practices in neonatal intensive care requires further exploration. 相似文献
36.
SP Walker M Permezel SF Berkovic 《BJOG : an international journal of obstetrics and gynaecology》2009,116(6):758-767
While most women with epilepsy can expect a normal pregnancy outcome, epilepsy remains a significant contributor to both maternal and perinatal morbidity. Pre-pregnancy planning must address reliable contraception and optimisation of antiepileptic drug (AED) regimens to minimise teratogenic risk while maintaining seizure control. The most recent data from the AED registries regarding malformations is presented in this review, as is the limited data on the newer AEDs and studies linking neurocognitive outcomes to AED exposure. During pregnancy, important considerations include; therapeutic drug monitoring, surveillance for obstetric complications and vigilance for seizures during the intrapartum and postpartum period. 相似文献
37.
Indomethacin suppositories were prepared by using water-soluble and oil soluble suppository bases, and evaluated for in vitro release by USP I and modified continuous flow through bead bed apparatus. Effect of the Tween 80 (1% and 5%) was further studied on in vitro release of the medicament. Release rate was good in water-soluble suppositories bases in comparison to oil soluble suppositories bases. Release was found to be greater in modified continuous flow through bead bed apparatus. When surfactant was used in low concentration then release rate was much greater, as compared to high concentration. When stability studies were performed on the prepared indomethacin suppositories it was found that suppositories made by water-soluble base had no significant changes while suppositories prepared by oil soluble bases, had some signs of instability. 相似文献
38.
Bae WC Temple MM Amiel D Coutts RD Niederauer GG Sah RL 《Arthritis and rheumatism》2003,48(12):3382-3394
OBJECTIVE: To determine, for clinical indentation testing of human articular cartilage, the effects of aging and degeneration on indentation stiffness and traditional indices of cartilage degeneration; the relationship between indentation stiffness and indices of degeneration; and the sensitivity and specificity of indentation stiffness to cartilage degeneration. METHODS: Osteochondral cores from femoral condyles of cadaveric human donors were harvested. Samples were distributed into experimental groups based on donor age (young [20-39 years], middle [40-59 years], and old [>/=60 years]), and a macroscopic articular surface appearance that was either normal or mildly degenerate, without deep erosion. Samples were analyzed for indentation stiffness, cartilage thickness, India ink staining (quantitated as the reflected light score), and Mankin-Shapiro histopathology score. RESULTS: Indentation stiffness, India ink staining, and the histopathology score each varied markedly between normal-sample and degenerate-sample groups but varied relatively little between normal samples obtained from different age groups. A decrease in indentation stiffness (softening) correlated with a decrease in the reflectance score and an increase in the overall histopathology score, especially the surface irregularity component of the histopathology score. Receiver operating characteristic analysis suggested that the indentation testing could accurately detect cartilage degeneration as indicated by macroscopic appearance, India ink staining, and histopathology score. CONCLUSION: The indentation stiffness of the normal to mildly degenerate samples tested in this study was sensitive to mild degeneration at the articular surface and was insensitive to changes associated with normal aging or to slight variations in cartilage thickness. This suggests that indentation testing may be a useful clinical tool for the evaluation of early-stage degenerative changes in articular cartilage. 相似文献
39.
Thakur SK Sah SP Kaini KR 《The Southeast Asian journal of tropical medicine and public health》2003,34(2):424-426
The case of a 40-year-old female patient with choroidal melanoma with secondary glaucoma presenting as a painful blind right eye is reported. Liver metastasis was detected by ultrasonography. The choroidal tumor measured 2 x 2.1 x 1.5 cm; histopathology showed that it was of the spindle cell (spindle A) variety. Such tumors are rare in non-white races and secondary glaucoma is an uncommon presentation. 相似文献
40.
背景:阿德福韦双酯(ADV) 是一种有效治疗野生型和耐拉米夫定乙肝病毒(HBV)的核苷酸类药物。在使用核苷酸类药物治疗慢性乙肝时,当治疗时间为 48、96、144周时,耐ADV变异体出现的累积发生率分别为0、 0.8-3%和0-5.9%。目的:研究67例对拉米夫定耐药且接受ADV治疗的慢性乙肝患者耐ADV病毒变异体的表型和基因型特点。方法:HBV DNA含量采用实时定量PCR技术。ADV变异体检测采用基质辅助激光解吸电离/飞行时间质谱为基础的基因分型 相似文献