Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and susceptibility to skin cancer. We wondered whether allele variations at this locus could influence susceptibility to malignant melanoma (MM). In all, 10 intragenic single-nucleotide polymorphisms (SNPs) were genotyped in 113 patients with melanomas and in 105 Caucasian control subjects with no personal or family history of skin cancer. By comparing allelic distribution between cases and controls, we show that MM and OCA2 are associated (p value=0.030 after correction for multiple testing). Then, a recently developed strategy, the 'combination test' enabled us to show that a combination formed by two SNPs was most strongly associated to MM, suggesting a possible interaction between intragenic SNPs. In addition, the role of OCA2 on MM risk was also detected using a logistic model taking into account the presence of variants of the melanocortin 1 receptor gene (MC1R, a key pigmentation gene) and all pigmentation characteristics as melanoma risk factors. Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma.     

电解可脱性铂弹簧圈栓塞治疗颅内动脉瘤26例

目的：报告使用电解可脱性钱弹簧圈（Ｇｕｇｌｉｅｌｍｉ ｄｅｔａｃｈａｂｌｅ ｃｏｉｌ,ＧＤＣ）栓塞治疗颅内动脉瘤的情况。方法：气管内插管全订和肝素抗凝下,使用Ｓｅｌｄｉｎｇｅｒ’ｓ技术,经Ｔｒａｃｋｅｒ微导管放置ＧＤＣ栓塞颅内动脉瘤。成功栓塞２６例３１个颅内动脉瘤,其中２７个为１００％栓塞,３个为９５％,１个为９０％。３个９５％栓塞均为宽颈动脉瘤。１个９０％栓塞者,为Ｈｕｎｔ分级Ⅳ级,存在严重脑血     

In vivo evaluation of a new system for 3D computerized angiography

A new system has been designed and built to validate the concept of 3D computerized angiography (CA). This system can acquire a set of 2D digital subtracted angiography images while rotating around a patient and then, using these images, reconstruct a 3D representation of the opacified vasculature. The design principles and main characteristics of the system are described, with special attention paid to data processing aspects. An initial in vivo evaluation of this system performed on anaesthetized animals and human volunteers is presented. The influence on the quality of the 3D reconstruction of different factors such as volume resolution, estimation method, source trajectory and number of projections is discussed.     

Testicular degeneration in three patients with the persistent müllerian duct syndrome

The presistent Müllerian duct syndrome, characterized by the presence of uterus and tubes in males, is a familial disorder due to defects of synthesis or action of anti-Müllerian hormone, a Sertoli cell glycoprotein responsible for the regression of Müllerian derivatives in normal male fetuses. Patients are normally virilized and testicular production of testosterone is normal. Both testes my be cryptorchild; alternatively, one may be descended into the inguinal canal or scrotum, together with the Müllerian derivatives, a condition known as hernia uteri inguinalis. We have recently observed three patients affected by the presistent Müllerian duct syndrome who experienced progressive degeneration of testicular tissue. In two, functional testicular tissue was still present some months after birth, but deteriortated progressively later. In one patient, testicular tissue was already absent at birth, but the normal virilization of external genitalia indicated that testicular degeneration must have occurred lat during fetal life, after the expected time of regression of male Müllerian ducts.Conclusion The high incidence of degeneration of testicular tissue in the presistent Müllerian duct syndrome could be indirectly linked to anatomical abnormalities which could favour testicular torsion, known to induce testicular regression.     

Preliminary study of electrocautery smoke particles produced in vitro and during laparoscopic procedures

Background: The objective of this preliminary study was to describe the particles contained in cautery smoke produced during five laparoscopic procedures and verify the collection method during three laboratory experiments on ex vivo animal tissue. Methods: A cascade impactor collected the smoke according to particle size, and particle weights were calculated on an electronic microbalance. Electron microscopic analysis and energy dispersive X-ray evaluation were used to determine particle morphology and elemental composition. Results: The particles, distributed according to size on the seven rotating trays of the impactor, had diameters ranging from 0.05 to >25 m, with most being 0.1–1 m. In vitro experiments yielded more particles, especially larger (>5 m) ones, than the surgical procedures, because the cauterized specimens could be placed much closer to the cascade impactor in the laboratory environment, eliminating most obstacles to particle recovery. In the laparoscopic surgery patients, larger particles, because of their physical properties, were more likely to remain trapped in the abdomen or to drop off in the collection apparatus. Uniformly, two populations of particles were demonstrated—either large, irregular fragments (2–25 m) rich in carbon and oxygen, suggesting structural cellular components, or small homogeneous spheres (0.1–0.5 m) composed of sodium, magnesium, calcium, and potassium salts. Conclusions: This study demonstrates the presence of breathable areosols and cell-size fragments in the cautery smoke produced during laparoscopic procedures. Their exact chemical composition and potential adverse effects for patients and personnel are not known.     

A site-specific deletion in mitochondrial DNA of Podospora is under the control of nuclear genes.

In the filamentous fungus Podospora anserina, the association of two nuclear genes inevitably leads to a "premature death" phenotype consisting of an early end of vegetative growth a few days after ascospore germination. Mycelia showing this phenotype contain a mitochondrial chromosome that always bears the same deletion. One of the break points is exactly at the 5' splice site of a particular mitochondrial intron, suggesting that the deletion event could result from molecular mechanisms also involved in intron mobility. One of the nuclear genes involved in triggering this site-specific event belongs to the mating-type minus haplotype; the other is a mutant allele of a gene encoding a cytosolic ribosomal protein.