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Biomedical subjects

C Castiglione

Publications and source records attributed to C Castiglione.

9 recordsLinked to original sources
PubMed1999

Evolution of the HOXB6 intergenic region: motif conservation at the lateral plate mesoderm (LPM) enhancer element.

This study reports the results of a comparative sequencing study in higher primates, focusing on the intergenic region located between HOXB6 and HOXB7. We have examined an 832 bp. region, encompassing a putative Lateral Plate Mesoderm (LPM) enhancer element in a variety of anthropoid apes. The interspecific comparisons reveal extensive substitutions occurring within this region, with a marked bias in favor of C-->T transitions within the enhancer element. The pattern of these substitutions suggests that the LPM enhancer region is subject to specific sequence and compositional constraints that are only revealed through comparative sequencing. These constraints produce an enhancer signature, the CpG microisland, which may be useful in identifying additional regulatory elements located within the HOX complexes. J. Exp. Zool. (Mol. Dev. Evol.) 285:170-176, 1999.

Animals↗
PubMed1996

DNA workbench: a database package to manage regional physical mapping.

DNA Workbench (DW) is a client-server database to manage physical mapping data that will form the basis for sequencing and efforts in biologically interesting regions of a chromosome. DW draws maps at different levels of resolution in either of two modes: proportional, when the sizes of objects and the physical distances between them are known accurately or approximately, and nonproportional, when most physical distance information in a region is not available, but order information is. DW interacts with the user primarily through the map graphic. Selection of individual objects on the graphic lets the user inspect and modify the underlying data. DW also manages dependency tracking between map objects and has a rudimentary form of version control. It is currently used to manage information on the DRD2 region on chromosome 11, and on the HOX region of chromosome 17.

Chromosome Mapping↗
PubMed1993

An objective assessment of treatment for orbital hypertelorism.

A retrospective statistical analysis of orbital hypertelorism correction was performed by comparing the preoperative and postoperative intercanthal distances of these patients with published age-matched normal values. Forty-five patients who had undergone surgery over a 15-year period with an average follow-up of 5 years (6 months to 14 years) were evaluated. Comparison of age-normalized preoperative and postoperative intercanthal distances revealed a significant difference for orbital hypertelorism patients as a group (p < 0.0001), patients with clefts (p < 0.0001), patients with nasoencephalocele (p < 0.01), and patients with frontonasal dysplasia (p < 0.05), but not for those patients with craniofacial dysostosis (p < 0.20). Multiple analyses of variance revealed a significant interaction existing between the extent of preoperative deformity and the cause of hypertelorism for both the postoperative deformity and the total amount of correction achieved, but not for the type of surgery or for the age at which the surgery was performed.

Analysis of Variance↗
PubMed1984

Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of beta-nerve growth factor (beta-NGF). The role of this growth factor in dysautonomia has been difficult to resolve as there is no known source of authentic human beta-NGF. The availability of a cloned DNA probe for the human beta-NGF gene has allowed identification of some copies of the gene (alleles) in six affected families. Alleles differ in the length of restriction endonuclease fragments that hybridize to DNA probes for the gene. In two families, affected children did not inherit the same two alleles at the beta-NGF locus. Since this disease is transmitted in an autosomal recessive manner, affected children must share the same alleles at the locus causing the disease. This analysis excludes the beta-NGF gene region as the cause of this neurologic disease but does not eliminate other genes involved in beta-NGF action, such as those coding for processing enzymes, receptors, or other subunits of the NGF complex.

Alleles↗
PubMed1980

[Prolactin in pathology of the breast. Clinical study ].

In the last years many Authors on the grounds of clinical and experimental studies have assumed the possibility of a connection between the prolactin and the breast pathology especially the carcionoma. In the present work the Authors give the results of the doses of the prolactin plasmatic basal levels, performed on 122 subjects belonging to 4 different groups: 1) patients with carcinoma of the breast; 2) patients with benign tumors of the breast; 3) patients with fibrocystic breast disease; 4) subjects of control. In patients who have undergone an operation further doses of blood prolactin have been carried out on 5th, 10th, 30th day after operation. On the grounds of such results the Authors propose new hypothesis of work wich will help to clear this problem.

Breast Diseases↗
PubMedDate not supplied

[Epidemiologic characteristics of congenital hip dysplasia in a Chilean population].

The results of a retrospective study on 97 cases of congenital hip dysplasia and 100 controls matched by sex and birth weight are presented. A female: male ratio of 6.5:1 and a higher frequency (68%) of bilateral involvement were found. Statistically significant differences were found for a positive family history of congenital hip dysplasia and breech presentation and 23% cases were not clinically suspected before hip x-ray. Better screening methods by early ultrasonography and radiologic examination are proposed.

Case-Control Studies↗