Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor () gene. We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel variant (c.159_207del).
View Article and Find Full Text PDFDistributional data on planktic copepods (Crustacea, Copepoda) collected in the framework of the III, V, and X Expeditions of the Italian National Antarctic Program (PNRA) to the Ross Sea sector from 1987 to 1995 are here provided. Sampling was performed with BIONESS and WP2 nets at 94 sampling stations at depths of 0-1,000 m, with a special focus on the Terra Nova Bay area. Altogether, this dataset comprises 6,027 distributional records, out of which 5,306 were obtained by digitizing original data reports and 721 are based on physical museum vouchers curated by the Italian National Antarctic Museum (MNA, Section of Genoa).
View Article and Find Full Text PDFSurfactants are synthetic chemicals utilized as detergents and cleaning products or as dispersants and emulsifiers to face water pollution. In spite of this, due to their wide diffusion, surfactants can induce water and soil pollution, notably in developed countries, and can be toxic to organisms. Taking into account that the assessment of new compounds is mandatory in the European Union, in this research the ecotoxicity of fire-fighting micelle encapsulator F-500, newly utilized as dispersant in seawaters polluted with oil dumping, was evaluated.
View Article and Find Full Text PDFCent Nerv Syst Agents Med Chem
March 2016
Cnidarians are numbered among the most venomous organisms. Their venoms are contained in intracellular capsules, nematocysts, which inject the content into preys/attackers through an eversion system resembling a syringe needle. Several cnidarian venoms have activity against the nervous system, being neurotoxic, or affect other systems whose functioning is under nerve control.
View Article and Find Full Text PDFThe toxicity of Cnidaria is a subject of concern for its influence on human activities and public health. During the last decades, the mechanisms of cell injury caused by cnidarian venoms have been studied utilizing extracts from several Cnidaria that have been tested in order to evaluate some fundamental parameters, such as the activity on cell survival, functioning and metabolism, and to improve the knowledge about the mechanisms of action of these compounds. In agreement with the modern tendency aimed to avoid the utilization of living animals in the experiments and to substitute them with in vitro systems, established cell lines or primary cultures have been employed to test cnidarian extracts or derivatives.
View Article and Find Full Text PDFVibrio cholerae N-acetyl glucosamine-binding protein A (GbpA) is a chitin binding protein and a virulence factor involved in the colonization of human intestine. We investigated the distribution and genetic variations of gbpA in 488 V. cholerae strains of environmental and clinical origin, belonging to different serogroups and biotypes.
View Article and Find Full Text PDFRecent Pat CNS Drug Discov
August 2013
Many organisms produce bioactive substances used in the production of drugs. In this context, Cnidaria occupy a major position; for this reason, research on new bioactive substances has focused upon them as an interesting target. As a matter of fact, substances and extracts able to fight human diseases have been found in cnidarians, several of which have been studied in laboratories using animal models or cell cultures and, at present, some are in the pre-clinical phase.
View Article and Find Full Text PDFThe production of natural toxins is an interesting aspect, which characterizes the physiology and the ecology of a number of marine species that use them for defence/offence purposes. Cnidarians are of particular concern from this point of view; their venoms are contained in specialized structures--the nematocysts--which, after mechanical or chemical stimulation, inject the venom in the prey or in the attacker. Cnidarian stinging is a serious health problem for humans in the zones where extremely venomous jellyfish or anemones are common, such as in temperate and tropical oceanic waters and particularly along several Pacific coasts, and severe cases of envenomation, including also lethal cases mainly induced by cubomedusae, were reported.
View Article and Find Full Text PDFWe carried out a 16-month in situ study to investigate the ecology of Vibrio spp. and pathogenic Vibrio species in coastal sediments of the Mediterranean Sea, employing multiple-regression analysis to reveal the major environmental factors controlling their occurrence in the benthic environment. In addition, association between vibrios and sediment-inhabiting meiofauna, which is a major component of benthic ecosystems, was investigated.
View Article and Find Full Text PDFThe toxicity of Cnidaria is a subject of concern due to its influence on humans. In particular, jellyfish blooms can highly affect human economical activities, such as bathing, fishery, tourism, etc., as well as the public health.
View Article and Find Full Text PDFThe uptake of cadmium and zinc by Spirulina platensis was investigated using a laboratory culture of this cyanobacterium. The cells were treated with metal concentrations increasing from 0.5 to 2.
View Article and Find Full Text PDFCulturable vibrios were isolated from water and plankton fractions collected during an 18-month sampling study performed along the north-central coast of the Adriatic Sea (Italy). Unculturable Vibrio vulnificus and V. parahaemolyticus were detected in plankton fractions by polymerase chain reaction amplification of DNA sequences for cytotoxin-haemolysin and thermolabile haemolysin respectively.
View Article and Find Full Text PDFHarbours are characterized by high pollutant charge and by the occurrence of well adapted and resistant species. This paper reports the results of an annual plankton survey (May 1997-June 1998) carried out in the western harbour of Genova (Ligurian Sea) and in its mouth. Plankton samples were collected by horizontal trawls using a WP2 net.
View Article and Find Full Text PDFAppl Environ Microbiol
November 2004
The presence of enterococci in lake and seawater in an 18-month survey comparing molecular (PCR and quantitative PCR) and culture methods was evaluated, as well as the possibility that zooplankton could act as reservoirs for enterococci. Samples of both water and zooplankton were collected monthly from a Lake Garda site and an Adriatic Sea site. In lake water, the positive samples numbered 13 of 54 (24%) by culture and 32 of 54 (59%) when PCR was applied.
View Article and Find Full Text PDFThe effect of exposure to artificial sea water (ASW) on the ability of classical Vibrio cholerae O1 cells to interact with chitin-containing substrates and human intestinal cells was studied. Incubation of vibrios in ASW at 5 degrees C and 18 degrees C resulted in two kinds of cell responses: the viable but non-culturable (VBNC) state (i.e.
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