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11.
Dal Zotto L; Quaderi NA; Elliott R; Lingerfelter PA; Carrel L; Valsecchi V; Montini E; Yen CH; Chapman V; Kalcheva I; Arrigo G; Zuffardi O; Thomas S; Willard HF; Ballabio A; Disteche CM; Rugarli EI 《Human molecular genetics》1998,7(3):489-499
We have recently reported isolation of the gene responsible for X- linked
Opitz G/BBB syndrome, a defect of midline development. MID1 is located on
the distal short arm of the human X chromosome (Xp22. 3) and encodes a
novel member of the B box family of zinc finger proteins. We have now
cloned the murine homolog of MID1 and performed preliminary expression
studies during development. Mid1 expression in undifferentiated cells in
the central nervous, gastrointestinal and urogenital systems suggests that
abnormal cell proliferation may underlie the defect in midline development
characteristic of Opitz syndrome. We have also found that Mid1 is located
within the mouse pseudoautosomal region (PAR) in Mus musculus , while it
seems to be X- specific in Mus spretus. Therefore, Mid1 is likely to be a
recent acquisition of the M. musculus PAR. Genetic and FISH analyses also
demonstrated a high frequency of unequal crossovers in the murine PAR,
creating spontaneous deletion/duplication events involving Mid1. These data
provide evidence for the first time that genetic instability of the PAR may
affect functionally important genes. In addition, we show that MID1 is the
first example of a gene subject to X-inactivation in man while escaping it
in mouse. These data contribute to a better understanding of the molecular
content and evolution of the rodent PAR.
相似文献
12.
Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection 总被引:1,自引:17,他引:1
Van Opstal D; Los FJ; Ramlakhan S; Van Hemel JO; Van Den Ouweland AM; Brandenburg H; Pieters MH; Verhoeff A; Vermeer MC; Dhont M; In't Veld PA 《Human reproduction (Oxford, England)》1997,12(4):682-686
Prenatal cytogenetic analysis of 71 fetuses conceived by intracytoplasmic
sperm injection (ICSI) resulted in the detection of nine (12.7%) chromosome
aberrations including two cases of 47,XXY, four cases involving a 45,X cell
line and three autosomal trisomies. Molecular analysis of the parental
origin of the deleted or supernumerary chromosome was performed by using
polymorphic microsatellite markers. Six cases involving a sex chromosome
abnormality were found to be of paternal origin while the two trisomic
cases that could be analysed were of maternal origin. Two cases involved
the same infertile couple who had two consecutive ICSI pregnancies
terminated because of a chromosome abnormality. The replaced embryos in
both cases originated from a single batch of ICSI fertilized oocytes of
which part was used to initiate the first pregnancy and part was
cryopreserved and used to initiate the second pregnancy.
相似文献
13.
A longitudinal study of maternal serum inhibin-A, inhibin-B, activin-A, activin-AB, pro-alphaC and follistatin during pregnancy 总被引:6,自引:1,他引:6
Fowler PA; Evans LW; Groome NP; Templeton A; Knight PG 《Human reproduction (Oxford, England)》1998,13(12):3530-3536
Maternal serum concentrations of inhibin-A, inhibin-B, activin-A,
activin-AB, pro-alphaC-related inhibin forms, total follistatin, steroids
and gonadotrophins were measured longitudinally in six normal singleton
pregnancies. Maternal venous blood was collected randomly during a
spontaneous follicular phase prior to donor insemination, at 5, 7, 9, 11,
16, 20, 24, 28, 32 and 36 weeks after the first missed menses and in the
early puerperium. Steroid and gonadotrophin profiles conformed to previous
reports. While at week 5 of gestation inhibin-A, activin-A and follistatin
concentrations were similar to those at the follicular phase, all three
increased progressively (P < 0.001) to maximal concentrations in week
36: approximately 48-fold (3740 +/- 1349 ng inhibin-A/ml), approximately
22-fold (6109 +/- 1443 ng activin-A/ml) and approximately 10-fold (3563 +/-
418 ng follistatin/ml) higher. Pro- alphaC concentrations reached a maximum
in weeks 5 (approximately 5- fold, P < 0.001) and 36 (1027 +/- 174
pg/ml, P < 0.01). Inhibin-B (71 +/- 23 pg/ml prior to pregnancy) was
undetectable (<12 pg/ml) between week 5-16 of gestation but increased
slightly in the third trimester (26 +/- 7 pg/ml in week 36). Activin-AB was
undetectable throughout pregnancy. Post-partum concentrations of inhibin-A
(41 +/- 12 ng/ml), inhibin-B (<12 pg/ml), activin-A (950 +/- 149 pg/ml),
pro-alphaC (128 +/- 22 pg/ml) and follistatin (990 +/- 79 ng/ml) were
substantially lower than at week 36 of gestation. The activin-A:follistatin
ratio increased from 0.5 in week 5 to 1.8 in week 36, suggesting that more
free activin-A is available in the maternal circulation during late
pregnancy.
相似文献
14.
KM Kanal NJ Hangiandreou AM Sykes HE Eklund PA Araoz JA Leon BJ Erickson 《Journal of digital imaging》2002,14(1):30-37
The aims of this work were to measure the accuracy of one continuous speech recognition product and dependence on the speaker's
gender and status as a native or nonnative English speaker, and evaluate the product's potential for routine use in transcribing
radiology reports. IBM MedSpeak/Radiology software, version 1.1 was evaluated by 6 speakers. Two were nonnative English speakers,
and 3 were men. Each speaker dictated a set of 12 reports. The reports included neurologic and body imaging examinations performed
with 6 different modalities. The dictated and original report texts were compared, and error rates for overall, significant,
and subtle significant errors were computed. Error rate dependence on modality, native English speaker status, and gender
were evaluated by performing ttests. The overall error rate was 10.3 +/- 3.3%. No difference in accuracy between men and women
was found; however, significant differences were seen for overall and significant errors when comparing native and nonnative
English speakers (P = .009 and P = .008, respectively). The speech recognition software is approximately 90% accurate, and
while practical implementation issues (rather than accuracy) currently limit routine use of this product throughout a radiology
practice, application in niche areas such as the emergency room currently is being pursued. This methodology provides a convenient
way to compare the initial accuracy of different speech recognition products, and changes in accuracy over time, in a detailed
and sensitive manner. 相似文献
15.
J Davies B Srinivasan PA Brennan 《Annals of the Royal College of Surgeons of England》2021,103(1):e42
Lipomas are common benign tumours that can occur in most parts of the body. Lipomas arising from the deep temporal fat pad, found between the two layers of the deep temporal fascia, are rare, however; there has been only one documented case report to our knowledge. We describe a second case arising from the temporal fat pad in a patient treated at our unit, having previously reported the first one, and discuss the relevant anatomy and management. 相似文献
16.
Joshua R Lewis Trudy Voortman John PA Ioannidis 《Journal of bone and mineral research》2021,36(2):219-226
A healthy diet is essential to attain genetically determined peak bone mass and maintain optimal skeletal health across the adult lifespan. Despite the importance of nutrition for bone health, many of the nutritional requirements of the skeleton across the lifespan remain underexplored, poorly understood, or controversial. With increasingly aging populations, combined with rapidly changing diets and lifestyles globally, one anticipates large increases in the prevalence of osteoporosis and incidence of osteoporotic fractures. Robust, transparent, and reproducible nutrition research is a cornerstone for developing reliable public health recommendations to prevent osteoporosis and osteoporotic fractures. However, nutrition research is often criticized or ignored by healthcare professionals due to the overemphasis of weak science, conflicting, confusing or implausible findings, industry interests, common misconceptions, and strong opinions. Conversely, spurious research findings are often overemphasized or misconstrued by the media or prominent figures especially via social media, potentially leading to confusion and a lack of trust by the general public. Recently, reforms of the broader discipline of nutrition science have been suggested and promoted, leading to new tools and recommendations to attempt to address these issues. In this perspective, we provide a brief overview of what has been achieved in the field on nutrition and bone health, focusing on osteoporosis and osteoporotic fractures. We discuss what we view as some of the challenges, including inherent difficulties in assessing diet and its change, disentangling complex interactions between dietary components and between diet and other factors, selection of bone-related outcomes for nutrition studies, obtaining evidence with more unbiased designs, and perhaps most importantly, ensuring the trust of the public and healthcare professionals. This perspective also provides specific recommendations and highlights new developments and future opportunities for scientists studying nutrition and bone health. © 2021 American Society for Bone and Mineral Research (ASBMR). 相似文献
17.
The effects of adrenergic drugs on the formation and resolution of cerebral oedema in a rat model of cold-induced vasogenic brain oedema were studied. Evans blue dye extravasation, water content and ultrastructural alterations (pinocytotic vesicle formation in capillary endothelial cells and apparent water accumulation in the brain parenchyma) were evaluated in parietal cortex. Previous administration of the alpha-adrenoceptor antagonist phenoxybenzamine produced a reduction of Evans blue extravasation and water content, diminished vesicle formation and reduced water accumulation. Previous administration of the beta2-adrenoceptor agonist clenbuterol reduced Evans blue extravasation and water content, but did not change vesicle frequency. The effects of clenbuterol on Evans blue passage to the brain were blocked by timolol (beta-adrenoceptor antagonist) but not by metoprolol (selective beta1-adrenoceptor antagonist). When given after the application of cold, clenbuterol was also able to reduce Evans blue and water content in the brain. Isoprenaline (beta-adrenoceptor agonist that does not cross the blood-brain barrier) showed a reduction in Evans blue extravasation only when given intracerebroventricularly. Vinblastine (a drug that prevents vesicle formation) produced a reduction of the amount of pinocytotic vesicles. We conclude that there is an influence of the central adrenergic nervous system on the formation and/or resolution of vasogenic brain oedema and that the alterations on water movement and Evans blue transport mediated by adrenergic drugs seem to be due, at least in part, to alterations of pinocytotic activity in capillary endothelial cells. 相似文献
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