Search results for "Typing"
showing 10 items of 1051 documents
Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland.
1999
The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, +8, +8, +del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).
Biochemical selection of prepubertal patients with androgen insensitivity syndrome by sex hormone-binding globulin response to the human chorionic go…
1997
Before puberty, the diagnosis of androgen insensitivity syndrome (AIS) can be difficult. We studied whether the decrease of sex hormone-binding globulin (SHBG) during the human chorionic gonadotropin (hCG) test may represent a biochemical test to select prepubertal patients with AIS. We examined prepubertal patients with AIS (n = 9, age 0.9-8.2 y), male pseudohermaphroditism not due to AIS (other-MPH) (n = 8, age 0.6-10.7 y), and control boys (n = 12, age 0.8-12.5 y). Testosterone and SHBG levels (mean +/- SD) were measured before (d 0) and after (d 5) a hCG test (1500 IU X 3 d). Testosterone levels (nmol/L) increased in all groups [AIS: from 1.5 +/- 1.2 to 22.1 +/- 11.8 (p0.001); other-MPH…
Low Levels of Mitochondrial DNA and Symbiont Diversity in the Worldwide Agricultural Pest, the Greenhouse Whitefly Trialeurodes vaporariorum (Hemipte…
2015
Trialeurodes vaporariorum, the greenhouse whitefly, is a cosmopolitan agricultural pest. Little is known about the genetic diversity of T. vaporariorum and the bacterial symbionts associated with this species. Here, we undertook a large phylogeographic study by investigating both the mitochondrial (mt) diversity and the infection status of 38 T. vaporariorum collections from 18 countries around the world. Genetic diversity of T. vaporariorum was studied by analyzing sequence data from the mt cytochrome oxidase I, cytochrome b, and NADH dehydrogenase subunit 5 genes. Maximum-likelihood (ML) phylogeny reconstruction delineated 2 clades characterized by limited sequence divergence: one clade c…
"KARYOTYPE, BANDING AND rDNA FISH IN THE SCARAB BEETLE ANOPLOTRUPES STERCOROSUS (COLEOPTERA SCARABAEOIDEA: GEOTRUPIDAE). DESCRIPTION AND COMPARATIVE …
2004
Six specimens of Anoplotrupes stercorosus (Coleoptera Scarabaeoidea: Geotrupidae) were analysed using conventional staining, banding techniques and fluorescent in situ hybridization with a ribosomal probe (rDNA FISH). Detailed karyotype description was also joined to a comparative analysis between present data and those previously reported for Thorectes intermedius [Chromosome Res. 7 (1999) 1]. The two species, both belonging to the tribe Geotrupini, show the same modal number but different autosomal morphology which is in contrast with the high chromosome stability argued for Geotrupinae during the last three decades. Moreover, a detailed comparison reveals the occurrence of a plesiomorphi…
A `little world of your own': stigma, gender and narratives of venereal disease contact tracing
2008
As in other countries, in order to protect the public from venereal disease (syphilis and gonorrhoea), contact tracing in New Zealand has been a public health strategy since the mid-20th century. So far, scholars have predominantly focused on the aspect of control of the cases traced. Based on a rare interview with a female contact tracer, together with a range of archival material, this article aims to expand the scholarship by focusing on the tracer instead of the patient. Using Erving Goffman's original concept of `courtesy stigma', the article will show that his idea can be nuanced to take into account contact tracers and the ways in which this stigma can be refracted through gender. Wo…
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutat…
1994
Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.
Spermatocyte chromosome analysis of Helicella virgata (Pulmonata: Helicidae): silver-stained and C-banded chromosomes.
1991
Chromosome numbers of the snail Helicella virgata from the fields of Castellammare del Golfo (Sicily) are n = 26 and 2n = 52. Silver-staining analyses of testicular cells suggest that both mitotic and meiotic chromosomes are involved in nucleolus organization. A within-individual variability in NOR-banding pattern is present in each of the 20 specimens analyzed.
Depression, Somatization, and Posttraumatic Stress Disorder in Children Born of Occupation After World War II in Comparison With a General Population.
2015
At the end of World War II and during the first decade after the war, roughly 200,000 children were fathered in intimate contacts between German women and foreign soldiers. The experiences of these German occupation children (GOC) have been so far described in case reports and from historical perspective only. Research on psychosocial consequences of growing up as a GOC has been missing so far. This study examined traumatic experiences, posttraumatic stress disorder, somatization, and depression in GOC (N = 146) using self-report instruments: Posttraumatic Diagnostic Scale and Patient Health Questionnaire. Findings have then been compared with a representative birth cohort-matched sample fr…
Karyological studies in Coris julis (Pisces, Labridae).
1988
In the present investigation the diploid number 2n = 48 (NF = 58) has been determined for females, primary males, and secondary males of Coris julis from the Gulf of Palermo. Differentiated sex chromosomes have not been observed in the population under study.
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: Phenotypic variability and founder …
2004
WOS: 000223072400081 PubMed ID: 15292359 Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at newborn age had an unremarkable TSH result and a low serum TSH level at diagnosis. Age at diagnosis and clinical phenotype were variable. All affected children carried an identical homozygous splice site mutation (IVS2 + 5 Gdouble right arrowA) in the TSHbeta gene. This mutation leads to skipping of exon 2 and a loss of the translational start codon without ability to produce a TSH-like protein. However, using specific monoclonal antibodies, we …