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J Phy S Foong D Session A Thornhill I Tummon D Dumesic 《Ultrasound in obstetrics & gynecology》2004,23(2):183-187
OBJECTIVES: To characterize ovarian morphology in a group of ovulatory, non-hirsute women with infertility and normal circulating levels of gonadotropins and sex steroids. METHODS: Thirty-three women with normal physical examinations, regular ovulatory menses, and absence of hirsutism (Ferriman-Gallwey score < or = 7) were studied. No woman had thyroid disease, galactorrhea, polycystic ovary syndrome, 21-hydroxylase deficiency or diabetes. Two-dimensional (2D) transvaginal sonography (TVS) was used to measure follicle size and ovarian volume on menstrual cycle day 5. Three-dimensional (3D) TVS images were stored to determine the number of follicles (measuring 2-10 mm in diameter) in the largest sonographic plane. Fasting blood sampling and oral glucose tolerance testing were performed to assess serum gonadotropin and sex steroid levels as well as glucose tolerance. RESULTS: The median ovarian volume by 2D-TVS imaging was 7.2 (range, 2.3-15.8) cm(3) (n = 64 ovaries). No follicles were > 10 mm in diameter. The median number of follicles by 3D-TVS was 4 (range, 2-8) (n = 63 ovaries) in the largest sonographic plane. Fourteen of 63 ovaries (22%) had six or more small follicles in one plane distributed within normal stroma (multifollicular ovary, MFO). No ovary had 10 or more follicles in one plane located within abundant stroma (polycystic ovary). Of 33 women examined, 20 women (61%) had apparently normal ovaries bilaterally, while 13 (39%) had at least one MFO. There were no significant differences between women with and those without MFO in serum gonadotropin and steroid levels or glucose tolerance. CONCLUSIONS: MFO is a common morphological variant in non-hirsute ovulatory women with normal gonadotropin secretion and ovarian steroidogenesis. 相似文献
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doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH) 总被引:12,自引:0,他引:12
des Portes V; Francis F; Pinard JM; Desguerre I; Moutard ML; Snoeck I; Meiners LC; Capron F; Cusmai R; Ricci S; Motte J; Echenne B; Ponsot G; Dulac O; Chelly J; Beldjord C 《Human molecular genetics》1998,7(7):1063-1070
Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical
dysgenesis disorder associated with a defect in neuronal migration.
Clinical manifestations are epilepsy and mental retardation. This disorder,
which mainly affects females, can be inherited in a single pedigree with
lissencephaly, a more severe disease which affects the male individuals.
This clinical entity has been described as X- SCLH/LIS syndrome. Recently
we have demonstrated that the doublecortin gene, which is localized on the
X chromosome, is implicated in this disorder. We have now performed a
systematic mutation analysis of doublecortin in 11 unrelated females with
SCLH (one familial and 10 sporadic cases) and have identified mutations in
10/11 cases. The sequence differences include nonsense, splice site and
missense mutations and these were found throughout the gene. These results
provide strong evidence that loss of function of doublecortin is the major
cause of SCLH. The absence of phenotype-genotype correlations suggests that
X-inactivation patterns of neuronal precursor cells are likely to
contribute to the variable clinical severity of this disorder in females.
相似文献
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Stein TP; Oram-Smith JC; Leskiw MJ; Wallace HW; Long LC; Leonard JM 《The American journal of physiology》1976,230(5):1321-1325
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Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNA 总被引:2,自引:2,他引:2
Rozmahel R; Gyomorey K; Plyte S; Nguyen V; Wilschanski M; Durie P; Bear CE; Tsui LC 《Human molecular genetics》1997,6(7):1153-1162
We have used a mouse model to study the ability of human CFTR to correct
the defect in mice deficient of the endogenous protein. In this model,
expression of the endogenous Cftr gene was disrupted and replaced with a
human CFTR cDNA by a gene targeted 'knock-in' event. Animals homozygous for
the gene replacement failed to show neither improved intestinal pathology
nor survival when compared to mice completely lacking CFTR. RNA analyses
showed that the human CFTR sequence was transcribed from the targeted
allele in the respiratory and intestinal epithelial cells. Furthermore, in
vivo potential difference measurements showed that basal CFTR chloride
channel activity was present in the apical membranes of both nasal and
rectal epithelial cells in all homozygous knock-in animals examined. Ussing
chamber studies showed, however, that the cAMP-mediated chloride channel
function was impaired in the intestinal tract among the majority of
homozygous knock-in animals. Hence, failure to correct the intestinal
pathology associated with loss of endogenous CFTR was related to
inefficient functional expression of the human protein in mice. These
results emphasize the need to understand the tissue- specific expression
and regulation of CFTR function when animal models are used in gene therapy
studies.
相似文献
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Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases 总被引:4,自引:5,他引:4
Preimplantation genetic diagnosis was performed in 61 day 3 embryos
obtained by in-vitro fertilization from seven patient carriers of
haemophilia, Marfan's syndrome, Bloch-Sulzemberg syndrome (incontinentia
pigmentosa) or X chromosome-linked immune deficiency, retinitis pigmentosa,
and FG syndrome, which is characterized by mental retardation and
hypotonia. After multiplex polymerase chain reaction, 16 embryos were
diagnosed as being unaffected, and these were transferred to the uterus on
the following day (day 4). Of these embryos, six (37.5%) implanted,
resulting in the delivery of a singleton and a twin pregnancy, a late
second trimester miscarriage (twins at week 20) and a first trimester
miscarriage at week 8. All the diagnoses were confirmed by amniocentesis.
We report for the first time a late day 4 transfer of biopsied human
embryos undergoing preimplantation genetic diagnosis. This transfer
schedule allows an extra day to perform genetic analyses on single
blastomeres and to monitor any adverse effect of the biopsy procedure.
相似文献