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排序方式: 共有706条查询结果,搜索用时 46 毫秒
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M Zentilin Boyer P de Lonlay N Seta M Besnard C Pélatan H Ogier J P Hugot C Faure J M Saudubray J Navarro J P Cézard 《Archives de pédiatrie》2003,10(7):590-595
Congenital disorders of glycosylation type I (GDG-I) is a class of genetic multisystem disorders characterised by defective glycosylation of glycoproteins. The characteristics and mechanisms of failure to thrive and intestinal diseases present in CDG-I are anectodal. PATIENTS AND METHODS: The aim of this study was to analyse 7 CDG-I (4 CDG-Ia, 2 CDG-Ib and 1 CDG-Ix) with important digestive symptoms and failure to thrive in order to characterise the mechanisms implied. RESULTS: Four children had no skin abnormality or dysmorphia (1 CDG-Ia, 2 CDG-Ib, 1 CDG-Ix). An encephalopathy with cerebellar hypoplasia was present only in the 4 CDG-Ia. Failure to thrive and diarrhea were present during the first month of life in 6 and appeared at 5 years in one CDG-Ia associated to mild or severe hepatopathy in all patients. One CDG-Ia, 1 CDG-Ib, 1 CDG-Ix had an exsudative enteropathy. A positive steatorrhea was present in 3 patients. Five patients had an abnormal small bowel biopsy. Abnormalities were variable: moderate inflammation of the chorion without villous atrophy in 2, intra-enterocyte fat accumulation without villous atrophy in 2, and partial villous atrophy with lymphangectasia in 1. In 2 CDG-Ia the intestinal biopsy was normal. Enteral nutrition in 4 and parenteral nutrition in 2 were effective in 4 patients and 1 patient with an exsudative enteropathy respond to a free fat diet (CDG-Ix). CONCLUSION: The digestive symptoms with failure to thrive is a common feature of CDG-I and could be the first symptoms. The diagnostic should be suspected if no other cause is found. Mechanisms of the intestinal symptoms appear to be multiple such as inflammation, abnormal enterocyte lipid transport or intestinal permeability related to the abnormal glycosylation of intestinal mucosa glycoproteins. 相似文献
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Radioiodinated tracers for the evaluation of dopamine receptors in the neonatal rat brain after hypoxic-ischemic injury 总被引:1,自引:0,他引:1
Amal Zouakia Sylvie Chalon Hank F. Kung Anne-Marie Dognon Elie Saliba Jean-Claude Besnard Denis Guilloteau 《European journal of nuclear medicine and molecular imaging》1994,21(6):488-492
In order to evaluate in vivo single-photon emission tomography (SPET) method of assessing cerebral function after hypoxic-ischemic injury in human neonates, we studied D1 and D2 dopamine receptors in a rat model. Seven-day-old rats underwent permanent unilateral common carotid ligation followed by exposure to 8% O2. Two weeks later, in brains with no visible loss of hemispheric volume, striatal dopaminergic receptors were studied, with [125I]TISCH and [1251]IBZM for the D1 and D2 dopamine receptors, respectively. Using [125I]TISCH, we observed no modifications of D1 receptors, but in contrast, ex vivo and in vitro autoradiographic experiments showed a 40% decrease in the striatal binding of [125I]IBZM on both the ipsilateral and the contralateral side to the carotid ligation. These alterations were detected with IBZM, a D2 dopamine receptor ligand usable for SPET imaging. Therefore, exploration of D2 receptors by SPET in human neonates suffering from perinatal hypoxia-ischemia may be valuable for the diagnosis and follow-up of cerebral function damages.
Correspondence to: D. Guilloteau 相似文献
5.
AP de Moraes† ÉÂG de Arruda† MAV Vitoriano† MO de Moraes Filho‡ FÂF Bezerra‡ E de Magalhães Holanda§ MEA de Moraes‡ 《Journal of the European Academy of Dermatology and Venereology》2007,21(5):596-601
BACKGROUND: Seborrhoeic dermatitis (SD) is a common dermatosis in human immunodeficiency virus (HIV)-positive patients, many of whom do not respond satisfactorily to conventional topical treatments such as corticosteroids and antifungals. OBJECTIVE: A pilot study to investigate the efficacy and tolerability of pimecrolimus cream 1% in HIV-positive patients with facial SD. METHODS: In a single-centre study, 21 HIV-infected patients with mild to severe SD were treated twice daily with pimecrolimus cream 1% for 14 days. Thereafter, treatment was discontinued and patients followed up for 5 weeks. Skin involvement at baseline and on days 7, 14, 21, 35 and 49 was assessed using a four-point clinical score and digital photography. MAIN OUTCOME MEASURES: Efficacy and safety of pimecrolimus cream 1% treatment and incidence of relapse in the follow-up phase. Results Marked improvement was seen in clinical parameters at day 7, with >or= 90% patients clear of symptoms at day 14. Relapse was observed at day 35 but signs were milder than at baseline. All patients responded to therapy, despite their immunological status. Pimecrolimus did not alter CD4(+) and CD8(+) T-cell counts or viral load during the treatment period. CONCLUSION: Pimecrolimus cream represents a new, effective therapeutic option for facial SD in HIV patients. 相似文献
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Directed establishment of rat brain cell lines with the phenotypic characteristics of type 1 astrocytes. 下载免费PDF全文
E H Radany M Brenner F Besnard V Bigornia J M Bishop C F Deschepper 《Proceedings of the National Academy of Sciences of the United States of America》1992,89(14):6467-6471
Interest in obtaining cell lines for use in studies on the development and biochemistry of the central nervous system has motivated efforts to establish cells from primary brain cultures by the use of oncogene-transfer techniques. In previous reports, cell lines derived from astrocytes in this way have had immature or abnormal phenotypes. We have explored the possibility of specifically "targeting" expression of exogenous oncogenes to differentiated astrocytes by using the promoter of the gene encoding glial fibrillary acidic protein, which is expressed almost exclusively in such cells. We report here that cell lines displaying the phenotypic characteristics of type 1 astrocytes can be established reproducibly in this manner. Given the heterogeneity of primary cultures, the availability of clonal cell lines displaying characteristics of type 1 astrocytes should greatly facilitate our understanding of the biology of these cells. 相似文献
8.
In-vitro maturation of human germinal vesicle stage oocytes: role of cumulus cells and epidermal growth factor in the culture medium 总被引:21,自引:6,他引:21
Goud PT; Goud AP; Qian C; Laverge H; Van der Elst J; De Sutter P; Dhont M 《Human reproduction (Oxford, England)》1998,13(6):1638-1644
In-vitro maturation (IVM) of oocytes is a promising technique to reduce the
costs and avert the side-effects of gonadotrophin stimulation for in-vitro
fertilization (IVF). The pregnancy rates from oocytes matured in vitro are
much lower than those of in-vivo stimulation cycles indicating that
optimization of IVM remains a challenge. Therefore, we investigated the
effect of supplementation of the medium with gonadotrophins, oestradiol and
epidermal growth factor (EGF) and the effect of retaining or removing the
cumulus cells on nuclear and cytoplasmic maturation of immature oocytes.
Human germinal vesicle (GV) oocytes obtained after gonadotrophin
stimulation for intracytoplasmic sperm injection (ICSI) were cultured in a
complex defined medium either supplemented with gonadotrophins, oestradiol
and physiological concentrations of EGF (2 ng/ml) or gonadotrophins and
oestradiol alone. The cumulus cells were either removed or kept intact. In
GV stage oocytes cultured without cumulus (group I) significantly more
oocytes reached the metaphase II (MII) stage at 30 h in media supplemented
with EGF (64.3 versus 33.9%, P < 0.003). For oocytes cultured with
intact cumulus (group II), more oocytes reached MII at 30 h than in group
I, but there was no difference in medium with or without EGF
supplementation (81.8 and 79.8% respectively). Cytoplasmic maturation of
MII oocytes was judged from their capability to activate and fertilize
after ICSI. In group I, the rates of activation and normal fertilization
were similar. However, in group II, significantly more oocytes underwent
normal fertilization in the EGF-supplemented than the unsupplemented group
(71.7 versus 45.6%, P < 0.05). The cleavage rates of the fertilized
oocytes were similar in the sibling oocyte subgroups cultured with or
without EGF supplementation, but the overall cleavage rates were higher in
cumulus-intact compared to cumulus-denuded oocytes (88.9 versus 47.8%, P
< 0.001). Thus, supplementation of the maturation medium with EGF and
maintenance of the cumulus during culture improve the nuclear and
cytoplasmic maturation of human oocytes in vitro.
相似文献
9.
The effects of co-culture with human fibroblasts on human embryo development in vitro and implantation 总被引:5,自引:0,他引:5
Wetzels AM; Bastiaans BA; Hendriks JC; Goverde HJ; Punt-van der Zalm AP; Verbeet JG; Braat DD 《Human reproduction (Oxford, England)》1998,13(5):1325-1330
In a human in-vitro fertilization (IVF) programme, the effect of co-
culture of embryos with human fibroblasts was evaluated with respect to
pregnancy rate and embryo development. Patients were included in the study
after giving informed written consent. The IVF treatments were randomly
assigned by stratification of both age (<36 versus > or =36 years)
and previous IVF attempts (yes versus no). After fertilization was
established, the zygotes were transferred to a 4-well dish with or without
fibroblasts and cultured for 2 days. On the third day after ovum pick-up
(OPU), cell number and quality [5 (good) to 1 (poor)] of the embryos were
scored and a maximum of three embryos was transferred. Supernumerary
embryos of good quality were cryopreserved. The design of this study was a
group sequential trial with the objective of detecting differences between
pregnancy rates following IVF with conventional incubation or incubation in
co-culture with fibroblasts. This design included one evaluation at
half-way data collection. In the study, 148 patients had an OPU, of whom 77
were allocated to the co-culture group. There was no statistically
significant difference in pregnancy rate, cell number and embryo quality
between the two groups. The ongoing pregnancy rate per embryo transfer was
27% in co-culture and 30% in the conventional culture group. The
implantation rates per transferred embryo were 17 and 18% respectively.
Using a multivariate logistic regression model for the probability of
ongoing pregnancies, the odds ratio of co-culture, adjusted for age and
previous IVF attempts, was not statistically significant. In conclusion,
co-culture with human fibroblasts does not contribute to an improvement of
embryo quality nor to a higher pregnancy rate after IVF in an unselected
group of patients.
相似文献
10.
The UTX gene escapes X inactivation in mice and humans 总被引:7,自引:3,他引:7
Greenfield A; Carrel L; Pennisi D; Philippe C; Quaderi N; Siggers P; Steiner K; Tam PP; Monaco AP; Willard HF; Koopman P 《Human molecular genetics》1998,7(4):737-742
We recently have identified a ubiquitously transcribed mouse Y chromosome
gene, Uty , which encodes a tetratricopeptide repeat (TPR) protein. A
peptide derived from the UTY protein confers H-Y antigenicity on male
cells. Here we report the characterization of a widely transcribed X-linked
homologue of Uty , called Utx , which maps to the proximal region of the
mouse X chromosome and which detects a human X-linked homologue at Xp11.2.
Given that Uty is ubiquitously transcribed, we assayed for Utx expression
from the inactive X chromosome (Xi) in mice and found that Utx escapes X
chromosome inactivation. Only Smcx and the pseudoautosomal Sts gene on the
mouse X chromosome have been reported previously to escape inactivation.
The human UTX gene was also found to be expressed from Xi. We discuss the
significance of these data for our understanding of dosage compensation of
X-Y homologous genes in humans and mice.
相似文献