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81.
Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review 总被引:3,自引:0,他引:3
Tachdjian G Frydman N Morichon-Delvallez N Dû AL Fanchin R Vekemans M Frydman R 《Human reproduction (Oxford, England)》2003,18(2):271-275
With an incidence of approximately 1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution. 相似文献
82.
Cholecystokinin-decreased food intake in rhesus monkeys 总被引:1,自引:0,他引:1
83.
Lymphatic endothelial cell identity is reversible and its maintenance requires Prox1 activity 总被引:2,自引:0,他引:2
Nicole C. Johnson Miriam E. Dillard Peter Baluk Donald M. McDonald Natasha L. Harvey Sharon L. Frase Guillermo Oliver 《Genes & development》2008,22(23):3282-3291
The activity of the homeobox gene Prox1 is necessary and sufficient for venous blood endothelial cells (BECs) to acquire a lymphatic endothelial cell (LEC) fate. We determined that the differentiated LEC phenotype is a plastic, reprogrammable condition that depends on constant Prox1 activity for its maintenance. We show that conditional down-regulation of Prox1 during embryonic, postnatal, or adult stages is sufficient to reprogram LECs into BECs. Consequently, the identity of the mutant lymphatic vessels is also partially reprogrammed as they acquire some features typical of the blood vasculature. siRNA-mediated down-regulation of Prox1 in LECs in culture demonstrates that reprogramming of LECs into BECs is a Prox1-dependent, cell-autonomous process. We propose that Prox1 acts as a binary switch that suppresses BEC identity and promotes and maintains LEC identity; switching off Prox1 activity is sufficient to initiate a reprogramming cascade leading to the dedifferentiation of LECs into BECs. Therefore, LECs are one of the few differentiated cell types that require constant expression of a certain gene to maintain their phenotypic identity. 相似文献
84.
Vidal N Koyalta D Richard V Lechiche C Ndinaromtan T Djimasngar A Delaporte E Peeters M 《Journal of acquired immune deficiency syndromes (1999)》2003,33(2):239-246
The genetic diversity of HIV-1 strains in Chad was documented with a total of 107 samples from patients attending the general hospital in N'Djamena, the capital city of Chad. The genetic subtypes were identified in the V3-V5 env and p24 gag regions by sequence and phylogenetic tree analyses. Of the 107 strains, 78 had the same subtype/CRF designation between env and gag. Four subtypes and three CRFs were found to cocirculate: subtype A, 20.5%; subtype D, 18.7%; CRF02_AG, 13.1%; CRF11_cpx, 13.1%; subtype G, 3.7%; CRF01_AE, 2.8%; and subtype F1, 0.9%. The remaining 29 strains (27%) had discordant subtypes or CRF designations between env and gag; in 15 of these 29 strains, a CRF was involved in the recombination event, and 10 were subtype G in gag and subtype A in env, forming a separate subcluster within subtypes G and A. Subtype D strains represent almost 20% of the HIV-1 strains circulating in Chad and form a separate subcluster in gag and env. Nearly full-length genome sequencing for two such strains (99TCD-MN011 and 99TCD-MN012) revealed that they represent nonrecombinant subtype D variants. Compared with neighboring countries, the genetic subtype distribution of HIV-1 strains in Chad is unique for several reasons: lower prevalence of CRF02, high prevalence of CRF11 and subtype D, and absence of CRF06. These data clearly show that subtype distribution is very heterogeneous in Africa, probably the result of different founder effects. 相似文献
85.
Nicole Bruneau Frédérique Bonnet-Brilhault Marie Gomot Jean-Louis Adrien Catherine Barthélémy 《International journal of psychophysiology》2003,51(1):17-25
The purpose of the present study was to investigate the relations between late auditory evoked potentials (AEPs) recorded at temporal sites (the N1c wave or Tb) and verbal and non-verbal abilities in children with autism. The study was performed in 26 mentally retarded children with autism (AUT) aged 4-8 years (mean age +/- S.E.M. = 71 +/- 2 months; mean verbal and non-verbal developmental quotient +/- S.E.M. = 36 +/- 4 and 48 +/- 3). The stimuli used were 750 Hz tone bursts of 200 ms duration delivered binaurally at different intensity levels (50, 60, 70, 80 dB SPL) with 3-5 s interstimulus intervals. Temporal AEPs were first compared to those of a group of 16 normal children (NOR) in the same age range (mean age +/- S.E.M. = 69 +/- 3 months). We then focused on the AUT group and considered relations between temporal AEPs and the severity of disorders of verbal and non-verbal communication assessed using a behavior rating scale. AEPs recorded on left and right temporal sites were of smaller amplitude in the AUT group than in the NOR group. Increasing intensity-related amplitude was observed on both sides in NOR and only on the right side in AUT. The lack of intensity effect on the left side resulted in a particular pattern of asymmetry at the highest level of intensity (80 dB SPL) with greater N1c amplitude on the right than on the left side (the reverse was found in the NOR group). Electro-clinical correlations indicated that the greater the amplitude of the right temporal N1c responses, the higher the verbal and non-verbal communication abilities. This suggests a developmental reorganization of left-right hemisphere functions in autism, with preferential activation of the right hemisphere for functions usually allocated to the left hemisphere, particularly those involving the secondary auditory areas situated on the lateral surface of the superior temporal gyrus where the N1c/Tb wave is generated. 相似文献
86.
Fugger EF; Black SH; Keyvanfar K; Schulman JD 《Human reproduction (Oxford, England)》1998,13(9):2367-2370
The world's first deliveries of normal babies after use of flow cytometric
separated human sperm cells (MicroSort) for preconception gender selection
are reported. Offspring were of the desired female gender in 92.9% of the
pregnancies. Most of these pregnancies and births were achieved after
simple intrauterine insemination.
相似文献
87.
MUC1 expression is correlated with nuclear grade and tumor progression in pT1 renal clear cell carcinoma 总被引:3,自引:0,他引:3
Leroy X Zerimech F Zini L Copin MC Buisine MP Gosselin B Aubert JP Porchet N 《American journal of clinical pathology》2002,118(1):47-51
We studied, by immunohistochemical analysis, the expression of MUC1 and epithelial membrane antigen in 44 stage pT1 renal cell carcinomas (RCCs). Six patients had a metastatic evolution. The percentage of stained cells was determined for each tumor. All tumors and normal adjacent renal parenchyma were stained. In normal kidney, distal convoluted tubules and collecting ducts stained strongly with an apical distribution. In tumors, there was a significant statistical correlation of the MUC1 expression level with the nuclear grade and with tumor progression. High-grade tumors had more stained cells than did low-grade tumors. Metastatic tumors also were more stained than nonmetastatic lesions. By using the Kaplan-Meier method and the log-rank test, we observed that patients with fewer than 10% of stained cells had no metastatic evolution. In contrast, patients with 70% or more stained cells had significantly lower metastasis-free survival rates. We conclude that MUC1 is expressed in RCC and is associated with tumor progression in pT1 RCC. 相似文献
88.
Horne G; Jamaludin A; Critchlow JD; Falconer DA; Newman MC; Oghoetuoma J; Pease EH; Lieberman BA 《Human reproduction (Oxford, England)》1998,13(11):3045-3048
Insemination with donor spermatozoa is an integral part of infertility
treatment. For the last 3 years in our unit, intrauterine insemination with
donor spermatozoa (IUID) has been used in preference to vaginal
insemination. In this retrospective study, patients were offered an initial
course of five single intrauterine inseminations with cryopreserved donor
spermatozoa and treatment was then reviewed. A total of 389 patients
received 1465 inseminations. In all, 1119 cycles were monitored using
luteinizing hormone serum analyses and 346 cycles using the urine home test
kits. The clinical pregnancy rate per insemination for the cycles monitored
by the serum assay was 18.0% (202/1119) compared with the urine cycles
(13.7%, 46/346) (P <05). The pregnancy loss rate was not significantly
different (14.4%, 29/202 and 21.7%, 10/46) (serum and urine cycles
respectively). The viable clinical pregnancy rate was significantly higher
(P <03) for the serum cycles than for the cycles using the urinary
monitoring (15.5%, 173/1119 and 10.4%, 36/346 respectively). The cycles
monitored by serum assay had a significantly higher cumulative viable
clinical pregnancy rate (P <0001) of 70.2% after nine inseminations
compared with the urine monitored cycles of 54.8%. The majority of patients
opted for the serum cycles, with a minority self-selecting the urine cycles
mainly for travelling convenience. The explanation for the significant
differences between the viable clinical pregnancy rates per insemination
and the cumulative viable clinical pregnancy rates may be due to the
sensitivity of the urine home test kit or the patients' interpretation of
the result.
相似文献
89.
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene 总被引:4,自引:0,他引:4
90.
Nicole Fellmann Mario Bedu Gil Boudet Martine Mage Marcel Sagnol Jean-Marc Pequignot Bruno Claustrat Jocelyne Brun Liliane Peyrin Jean Coudert 《European journal of applied physiology》1992,64(3):258-265
Summary The aim of the study was to investigate the inter-relationships between pituitary-adrenal hormones and catecholamines during a prolonged competition over 6 days. Plasma adrenocorticotropic hormone (ACTH), cortisol (C), -endorphin (EP), free and sulphated adrenaline (A) and noradrenaline (NA) were measured in 11 volunteer male subjects during a national Nordic-ski race (323 km). Blood samples were obtained before the competition in the evening as control (D0), and before and after each day's racing (D1–D6). The mean daily heart rate (f
c) was calculated fromf
c values recorded every minute during the race. The results showed the following: changes in meanf
c [from 147 (SEM 3) to 156 (SEM 3) beats · min–1 according to the day] were not significant during the race. Diurnal variations in ACTH, EP and C were no longer apparent after the race: evening levels were higher than their respective D0 values during the race, except on D3 when there was a lack of response to exercise in the three hormones. Unlike ACTH and EP, pre- and postexercise C values on D1 and D2 were higher than those on the subsequent days (P<0.001). In contrast, there was a progressive accumulation of A and NA in pre-and postrace concentrations which reached a plateau in about 4 days. Positive correlations between exercise responses in ACTH, C and EP were found especially on D3 and D6 (P<0.001) but there were no significant correlations between catecholamines and the other three hormones. Thus, prolonged competition over 6 days evoked different control mechanisms for hormones of the pituitary-adrenal axis and catecholamines. A sustained catecholamine release and sympathetic activation induced a progressive NA and A accumulation during the race. In contrast, the lack of a response to exercise in ACTH, EP and C on D3 suggested a dissociated central command for pituitary axis hormones and sympathetic adrenal activation. On the following days, the response to a lack of exercise, in spite of ACTH stimulation, may have reflected an adaptation of adrenal glands to prolonged stress. 相似文献