20,285 research outputs found
Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked, therefore sexual ambiguity occurred. Lack of information and knowledge of both medical personnel and community made AIS frequently misdiagnose and mismanagement.
This was a descriptive retrospective and prospective study following the clinical, hormonal, cytogenetic, and molecular study from subjects with suspected AIS from the molecular and cytogenetic laboratories in Semarang during April 2004 to April 2005. Medical record was obtained from Molecular and Cytogenetic Unit in Medical Faculty of Diponegoro University and Cytogenetic Laboratory of Telogorejo Hospital.
Quigley stage measurement in 46 PAIS cases were found in stage 3 for 18 (39,1%); in stage 2 for 16 cases (34,8%); in stage 4 for 6 cases (13%); in stage 6 for 3 cases (6,5%); in stage 1 for 2 cases (4,3%) and in stage 5 for 1 case (2,2%). Twelve individuals were raised as female whose 2 of them had been operated for gender adjustment to male. There were two large families with familial PAIS suggested an X-linked inheritance. Eight subjects (16,33%) showed the characteristic of PAIS hormone. Four out of nine subjects who had been examined using molecular analysis showed missense mutation R840H and I603N.
The diagnosis of PAIS need a complex assessment, not only based on physical examination but also should be considered using hormonal, cytogenetic and molecular analysis. The majority of patients came from low socioeconomic background, expensive cost and the availability of hormonal and molecular analysis in Indonesia is the main constraint in establishing the diagnosis.
Keywords : Androgen Insensitivity Syndrome, clinical features, hormones, AR-gene mutations
The Neuroptera - Suborder Planipennia of Wisconsin Part 1 - Introduction and Chrysopidae
No one to date has published on the Neuroptera of Wisconsin. The only comprchensive report dealing with the group in a neighboring state is the one by Parfin (1952) for Minnesota. I have collected Neuroptera in Wisconsin in a desultory manner from 1922 to 1957 and from then to the present datc methodically and much more extensively. I have worked in all 72 countries of the state, some in only a few places but in a number of counties spaced throughout the state, in many places and at many times. With more collecting other species may be found or the distribution of the known species extended but I feel that publication at this time is warranted.
I have examined the collections at the Milwaukee Public Museum, the University of Wisconsin at Madison and several smaller collections in the state. My inquiries concerning Wisconsin specimens in collections outside the state have yielded very meager results.
In my collecting I have kept every neuropteran specimen no matter how damaged it might be and no matter how many duplicates I had. I did this to more accurately get a comparison of the relative abundance of the species and a more accurate figure of the proportion of males and females and of the type of habitat where different species are found
The Neuroptera - Suborder Planipennia of Wisconsin Part III - Mantispidae, Ascalaphidae, Myrmeleontidae and Coniopterygidae
This part concludes the Neuroptera-Suborder Planipennia of Wisconsin. In Parts I and I1 (Throne 1971a, b) no keys to the species were included because satisfactory keys were readily available. However, keys are included in Part 111 either because satisfactory keys are not available or because simpler keys than those available prove adequate for the few Wisconsin species. Whenever possible I have used macroscopic structural characters. In order to separate two species of Coniopterygidae I found it necessary to use male genitalic characters. I have made free use of the keys of Dr. Martin Meinander (1972) in constructing the key for the genera and species of Wisconsin dustywings.
With the exception of the Coniopterygidae which have been ably documented by Dr. Meinander, I am able to find but few recent distribution records for the species of the families here considered
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