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A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings. 相似文献
104.
Dr J. L. Carrasco Juan A. Otero Gómez M. C. Vilar Mesa J. L. García Miranda J. M. Troyano Luque O. Morales Ruiz J. Parache Hernández 《黑龙江环境通报》1989,9(6):443-445
A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed. 相似文献
105.
C. Marchese M.D. E. Savin E. Dragone F. Carozzi M. De Marchi M. Campogrande G. C. Dolfin G. Pagliano E. Viora A. Carbonara 《黑龙江环境通报》1985,5(3):221-227
Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained. 相似文献
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Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM2-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM2-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM2-gangliosidosis (0 variant) was compared. 相似文献
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Catherine Potvin Petra Tschakert Frédéric Lebel Kate Kirby Hector Barrios Judith Bocariza Jaime Caisamo Leonel Caisamo Charianito Cansari Juan Casamá Maribel Casamá Laura Chamorra Nesar Dumasa Shira Goldenberg Villalaz Guainora Patrick Hayes Tim Moore Johana Ruíz 《Mitigation and Adaptation Strategies for Global Change》2007,12(8):1341-1362
This paper is part of a two-year study to investigate the feasibility of initiating a Clean Development Mechanism (CDM) project
in an indigenous community of Eastern Panamá, Ipetí-Emberá. We use participatory mapping and matrices as well as household
surveys to develop a land-use/land-cover baseline scenario and examine the role of local participation in assessing land-use
change. In Ipetí, land-use change has not occurred in a linear way over the last decades, and our data unveils socio-economic
factors as potential key drivers of change. The concordance that we observed between geographic information and individual
and collective perceptions of land-use change substantiates the possibility of using local knowledge in the establishment
of baseline data for CDM projects. Our calculations suggest that the total carbon (C) stocks in the Tierra Colectiva (TC) of Ipetí-Emberá in 2004 represents a 47% reduction from the estimated C stock at the onset of settlement in the early
1970’s. Results from the participatory assessments predict that, in 2024 and in absence of a CDM project, the C stocks will
decline from 301,859 t C in 2004 to 155,730 t C, which constitutes a reduction of 52%. The scenario with CDM estimates C stocks
of 305,853 t C for 2024, a value slightly superior to the 2004 value. In the TC there is ground to believe that cattle ranching
is likely to become an ever more important activity as the population is young and growing and cannot easily move elsewhere.
Forests tend to be cleared for cultivation while pastures are established on short fallows. Our baseline scenario underlines
the potential for a CDM project to make a significant difference in the future C stocks of this landscape. 相似文献