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11.
Van de Velde H; De Vos A; Joris H; Nagy ZP; Van Steirteghem AC 《Human reproduction (Oxford, England)》1998,13(11):3160-3164
In human in-vitro fertilization (IVF), the oocytes are surrounded by
cumulus and corona cells at the time of insemination so that their maturity
cannot easily be evaluated. The best IVF results are obtained if the
oocytes are inseminated 2-6 h after retrieval. In the intracytoplasmic
sperm injection (ICSI) procedure, the oocytes are denuded by enzymatic and
mechanical treatment in order to be able to perform the injection. As a
consequence, the nuclear maturity of the oocytes can be evaluated and only
those that have extruded the first polar body are injected. However,
metaphase-II oocytes that have not yet reached cytoplasmic maturity cannot
be recognized. The purpose of this study was to investigate the effect of
different timing of cumulus- corona cell removal and injection on the
outcome of ICSI. For this we allowed the oocytes to complete in-vitro
cytoplasmic maturation in two different culture conditions: (i) surrounded
by their cumulus and corona cells or (ii) totally denuded. We performed
three different studies on sibling oocytes obtained after a standardized
buserelin/human menopausal gonadotrophin (HMG) protocol. We investigated
the effect of early (1-2 h after retrieval) and late (5-6 h after
retrieval) oocyte denudation and injection on the survival and
fertilization of the injected oocytes and on embryo cleavage after
fertilization. We found no statistically significant differences between
early and late injection, indicating that after a standardized
buserelin/HMG protocol the metaphase-II oocytes do not need time for
further cytoplasmic maturation. Furthermore, a different timing of
cumulus-corona cell removal has no effect on the outcome of ICSI,
suggesting that the surrounding cells are not necessary for survival,
fertilization and cleavage after ICSI.
相似文献
12.
Novero V; Camus M; Tournaye H; Smitz J; Verheyen G; Joris H; Derde MP; Van Steirteghem AC; Devroey P 《Human reproduction (Oxford, England)》1997,12(1):59-63
Serum follicle stimulating hormone (FSH) is routinely measured when
evaluating the infertile male for intracytoplasmic sperm injection (ICSI).
However, among the sperm parameters, only its relationship with sperm
concentration is well documented. Few investigations concern the
relationship between FSH and sperm motility and morphology, and the results
of ICSI. A retrospective study of 316 couples who underwent ICSI was
carried out to determine the relationships between serum FSH concentrations
in the male and (i) standard sperm parameters_(concentration, motility and
morphology) and (ii) fertilization, cleavage, pregnancy and implantation
rates after ICSI. There was an inverse correlation with sperm concentration
and total motility but no relationship was found with progressive motility
and sperm morphology. Neither was any relationship found between serum FSH
and fertilization, cleavage, pregnancy and implantation rates, and the
results of ICSI. These findings suggest the need to review the routine
measurement of serum FSH in the infertile male when ICSI is the planned
treatment procedure.
相似文献
13.
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis 总被引:5,自引:0,他引:5
Maheshwar MM; Cheadle JP; Jones AC; Myring J; Fryer AE; Harris PC; Sampson JR 《Human molecular genetics》1997,6(11):1991-1996
Tuberous sclerosis is an autosomal dominant trait in which the
dysregulation of cellular proliferation and differentiation results in the
development of hamartomatous growths in many organs. The TSC2 gene is one
of two genes determining tuberous sclerosis. Inactivating germline
mutations of TSC2 in patients with tuberous sclerosis and somatic loss of
heterozygosity at the TSC2 locus in the associated hamartomas indicate that
TSC2 functions as a tumour suppressor gene and that loss of function is
critical to expression of the tuberous sclerosis phenotype. The TSC2
product, tuberin, has a region of homology with the GTPase activating
protein rap1GAP and stimulates the GTPase activity of rap1a and rab5a in
vitro. Here we show that the region of homology between tuberin and human
rap1GAP and the murine GAP mSpa1 is more extensive than previously reported
and spans approximately 160 amino acid residues encoded within exons 34-38
of the TSC2 gene. Single strand conformation polymorphism analysis of these
exons in 173 unrelated patients with tuberous sclerosis and direct
sequencing of variant conformers together with study of additional family
members enabled characterisation of disease associated mutations in 14
cases. Missense mutations, which occurred in exons 36, 37 and 38 were
identified in eight cases, four of whom shared the same recurrent change
P1675L. Each of the five different missense mutations identified was shown
to occur de novo in at least one sporadic case of tuberous sclerosis. The
high proportion of missense mutations detected in the region of the TSC2
gene encoding the GAP-related domain supports its key role in the
regulation of cellular growth.
相似文献
14.
Berry V; Ionides AC; Moore AT; Plant C; Bhattacharya SS; Shiels A 《Human molecular genetics》1996,5(3):415-419
Inherited cataract is a clinically and genetically heterogeneous disease.
Here we report the identification of a new locus for an autosomal dominant
anterior polar cataract on the short arm of chromosome 17. To map this new
locus we performed genetic linkage analysis with microsatellite markers in
a four-generation pedigree. After exclusion of seven candidate loci for
cataract, we obtained significant positive LOD scores for markers D17S849
(Z = 4.01 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipoint
analysis gave a maximum LOD score of 5.2 (theta max = 0.06) between these
two markers. From haplotype analysis, the cataract locus lies in the 13 cM
interval between markers D17S849 and D17S796. This study provides the first
genetic mapping of an autosomal dominant anterior polar cataract.
相似文献
15.
Kathryn Leary Harry H. Yim Lu Bing Zhou Rose E. Sekulovich Rozanne M. Sandri-Goldin 《Virus genes》1989,3(1):57-68
To determine the role of the HSV-1 genome structure and environment on the regulation of gene expression, we constructed recombinant viruses containing a heterologous gene inserted into either the immediate early ICP0 or late glycoprotein C (gC) genes of HSV-1. The heterologous gene consisted of the SV40 early promoter (without enhancer sequences) linked to the coding sequences for the bacterial chloramphenicol acetyl transferase (CAT). The expression of CAT was examined in Vero cells infected with either virus (named ICP0-CAT and Sph 6). For both recombinants, expression of CAT was not dependent upon prior viral protein synthesis. The kinetics of expression of CAT-specific mRNA resembled that of the HSV-1 genes into which CAT was inserted. Primer extension analysis revealed that the SV40 promoter is recognized and used when placed in cis in two different HSV-1 genome locations, and Northern hybridization experiments confirmed that the heterologous gene was expressed in the absence of prior viral protein synthesis. Therefore, this gene was not regulated as strictly as an HSV-1 gene, but was influenced by the environment into which it was placed, presumably by factors that are present when the normal viral gene is on. 相似文献
16.
Popat KC Leary Swan EE Mukhatyar V Chatvanichkul KI Mor GK Grimes CA Desai TA 《Biomaterials》2005,26(22):4516-4522
A major goal of bone tissue engineering is to design better scaffold configuration and materials to better control osteoblast behavior. Nanoporous architecture has been shown to significantly affect cellular response. In this work, nanoporous alumina membranes were fabricated by a two-step anodization method to investigate bone cell response. Osteoblasts were seeded on nanoporous alumina membranes to investigate both short-term adhesion and proliferation and long-term functionality and matrix production. Cell adhesion and proliferation were characterized using a standard MTT assay and cell counting. The total protein content was measured after cell lysis using the BCA assay. Matrix production was characterized in terms of surface concentrations of calcium and phosphorous, components of bone matrix, using X-ray photoelectron spectroscopy (XPS). The results from nanoporous alumina membranes were compared with those of amorphous alumina, aluminum, commercially available ANOPORE and glass. Results indicate improved osteoblast adhesion and proliferation and increased matrix production after 4 weeks of study. 相似文献
17.
Background
Genetic polymorphisms of the TCF7L2 gene are strongly associated with large increments in type 2 diabetes risk in different populations worldwide. In this study, we aimed to confirm the effect of the TCF7L2 polymorphism rs7903146 on diabetes risk in a Brazilian population and to assess the use of this genetic marker in improving diabetes risk prediction in the general population. 相似文献18.
Marjolijn Bornebroek Joost Haan Marion LC Maat-Schieman Sjoerd G Van Duinen Raymund AC Roos 《Brain pathology (Zurich, Switzerland)》1996,6(2):111-114
Hereditary cerebral hemorrhage with amyloidosis - Dutch type (HCHWA-D) is an autosomal dominant disease caused by deposition of β-amyloid in the leptomeningeal arteries and cortical arterioles, in addition to preamyloid deposits and amyloid plaques in the brain parenchyma.
The disease is due to a point mutation at codon 693 of the amyloid precursor protein (βPP) gene at chromosome 21. Since this point mutation is diagnostic for HCHWA-D, presymptomatic testing is feasible and offered, together with genetic counselling and psychological support, to subjects at risk. HCHWA-D is clinically characterized by recurrent strokes, in addition to dementia, which can occur after the first stroke but also preceding it. Radiological studies revealed focal lesions (hemorrhages, hemorrhagic and non-hemorrhagic infarctions) and diffuse white matter damage. Diffuse white matter hyperintensities on MRI are an early symptom of HCHWA-D since they have been found on MRI scans of subjects who had not suffered a stroke.
The presence of the diagnostic point mutation makes HCHWA-D a useful model to study the effects of cerebral amyloid angiopathy in vivo. The characteristic pathological abnormalities and its implications for Alzheimer's disease will be discussed in Part II of this article 相似文献
The disease is due to a point mutation at codon 693 of the amyloid precursor protein (βPP) gene at chromosome 21. Since this point mutation is diagnostic for HCHWA-D, presymptomatic testing is feasible and offered, together with genetic counselling and psychological support, to subjects at risk. HCHWA-D is clinically characterized by recurrent strokes, in addition to dementia, which can occur after the first stroke but also preceding it. Radiological studies revealed focal lesions (hemorrhages, hemorrhagic and non-hemorrhagic infarctions) and diffuse white matter damage. Diffuse white matter hyperintensities on MRI are an early symptom of HCHWA-D since they have been found on MRI scans of subjects who had not suffered a stroke.
The presence of the diagnostic point mutation makes HCHWA-D a useful model to study the effects of cerebral amyloid angiopathy in vivo. The characteristic pathological abnormalities and its implications for Alzheimer's disease will be discussed in Part II of this article 相似文献
19.
Variations of the origin of the artery of the sinoatrial node in normal human hearts 总被引:8,自引:0,他引:8
Summary The artery of the sino-atrial node was studied in 100 normal human hearts after injection of each coronary artery with coloured gelatine containing a radiopaque substance. The hearts belonged to 69 males and 31 females, being 64 Caucasians and 36 non-Caucasians (Negroes and Mulattoes) whose age ranged from 7 to 80 years. Since the individuals had committed suicide or were victims of accidents, their hearts, after pathologists' evaluation, were considered normal. The sinoatrial node of the normal human heart is supplied by the right coronary artery more frequently (58%±4.9% of the cases) than by the left (42%±4.9). The right anterior medial atrial artery, originating from the right coronary at the level of the medial third of the right anterior quadrant of the atrial dome, is most frequently (50%±5) responsible for the blood supply of the sinoatrial node. Among the branches of the left coronary artery, the left anterior medial atrial artery, originating at the level of the medial third of the left. anterior quadrant of the atrial cupola, was the most frequent blood supplier (25%±4.3) of the sinoatrial node. The origin of the artery of the sinoatrial node from the proximal portion or trunk of the left coronary artery was less frequent (12%±3.2) than the origin from the circumflex artery (30%±4.5). Neither sex nor race influenced the variations of the origin of the sino-atrial node.
Variations d'origine de l'artère du noeud sinu-atrial du coeur humain normal
Résumé L'a. du noeud sinu-atrial a été étudiée sur 100 coeurs humains normaux après injection de chaque a. coronaire à la gélatine colorée additionnée d'une substance radio-opaque. Les coeurs provenaient de 69 hommes et 31 femmes, 64 caucasiens et 36 non caucasiens (nègres et mulâtres) âgés de 7 à 80 ans. Ces sujets étant décédés par suicide ou des suites d'accidents, leurs coeurs ont été considérés comme normaux après examen anatomo-pathologique. Le noeud sinu-atrial du coeur humain est vascularisé par l'a. coronaire droite plus fréquemment (58 %±4,9) que par l'a. coronaire gauche (42 %±4). L'a. atriale antéro-médiale droite, issue de l'a. coronaire droite au niveau du tiers médial du quadrant antérieur droit du dôme atrial est l'artère la plus fréquemment en cause (50 %±5) dans la vascularisation du noeud sinuatrial. Parmi les branches de l'a. coronaire gauche, l'a. atriale antéro-médiale gauche, née au niveau du tiers médial du quadrant antérieur gauche du dôme atrial, était la branche la plus fréquemment en cause (25 %±4,3) dans la vascularisation du noeud sinu-atrial. La naissance de l'a. du noeud sinu-atrial à partir de la partie proximale ou du tronc de l'a. coronaire gauche était moins fréquente (12 %±3,2) que son origine à partir du rameau circonflexe (30 %±4,5). Les variations d'origine de l'a. du noeud sinu-atrial n'apparaissaient pas influencées par le sexe ou la race.相似文献
20.
Viability of partially damaged human embryos after cryopreservation 总被引:10,自引:13,他引:10
Van den Abbeel E; Camus M; Van Waesberghe L; Devroey P; Van Steirteghem AC 《Human reproduction (Oxford, England)》1997,12(9):2006-2010
In our centre, embryos are judged to have survived cryopreservation if at
least half of the initial number of blastomeres remain intact. Therefore
both fully intact and partially damaged embryos are transferred. The aim of
this study was to investigate the viability of partially damaged human
embryos after cryopreservation. We retrospectively analysed the
implantation and in-vivo development of embryos which were either fully
intact or had lost some blastomeres after cryopreservation. Oocytes were
collected following stimulation with the gonadotrophin-releasing hormone
(GnRH)-agonist Buserelin and human menopausal gonadotrophin. Supernumerary
multicellular embryos with not more than 20% of their volume filled with
anucleate fragments were frozen on day 2 or day 3 of the cycle using a slow
cooling procedure with dimethylsulphoxide as the cryoprotectant. Following
slow thawing, 431 fully intact embryos were transferred in 314 embryo
transfer procedures and 488 partially damaged embryos were transferred in
327 such procedures. The percentage of gestational sacs with fetal
heartbeat obtained after transfer of fully intact embryos was almost three
times higher than that after transfer of partially damaged embryos (11.4
versus 3.5%). Forty-five children (birth rate 10% per embryo transfer) were
born after transfer of fully intact embryos and 14 after transfer of
embryos from which some blastomeres had been lost following
cryopreservation. In conclusion, although children have been delivered
after transfer of partially damaged embryos, the aim of a cryopreservation
programme must be to obtain fully intact embryos after thawing.
相似文献