A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome

Kallmann's syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. Segregation analysis in familial cases has demonstrated diverse inheritance patterns, suggesting the existence of several genes regulating GnRH secretion. Genetic defects have been demonstrated in the KAL gene, located on the Xp22.3 region, explaining the X-linked form of the disease. We report molecular findings regarding the KAL gene in 12 unrelated males with X-linked KS. PCR of the 14 exons of the KAL gene was performed on genomic DNA. PCR products of all exons were purified and sequenced. Genetic defects in the KAL gene were found in 7 patients. One exhibits a deletion from exon 3 to exon 5. Six individuals present a previously unidentified missense mutation in exon 11, consisting of a G to A substitution at codon 514 (GAA to AAA). In the remaining 5 individuals, no mutations were observed. We also found three different polymorphic changes. The first one, in exon 2, had not been reported previously. The other two were located at exons 11 and 12. The deletion described, comprises only part (exon 5) of the coding region of the first fibronectin type III-like repeat of the KAL protein. The rest of the deletion comprises part of the conserved cysteine-rich N-terminal region that corresponds to the whey acidic protein motif. The same missense mutation was found in 6 of the 12 patients, indicating the possibility that it derived from a common ancestor or suggesting the presence of a hot spot in this region of the gene.     

Pigmented squamous cell carcinoma of the skin: report of two cases and review of the literature

Melanoma is the most common malignant tumor in which melanin synthesis occurs, although other nonmelanocytic tumors synthesize melanin or contain nonneoplastic melanocytes. We present two cases of infiltrating pigmented squamous cell carcinoma of the skin and review the clinical, morphologic, and ultrastructural features. Melanin was found in epithelial tumor cells as well as in macrophages and dendritic melanocytes. Interestingly, one of the neoplasms was associated with an adjacent melanocytic nevus and pigmented solar keratosis. Immunohistochemical analysis showed that neoplastic cells stained for keratin and melanin-filled dendritic cells were found to be S-100 protein and HMB45 positive. A careless examination of the immunohistochemical stains for S-100 protein and HMB45 could cause the misdiagnosis of melanoma, a neoplasm that has a more ominous outlook.     

Identification and quantification of prostaglandin E3 in renal medullary tissue of three strains of rats fed fish oil

Three strains of rats were fed a fish oil diet to verify their ability to incorporate and convert dietary eicosapentaenoic acid (20∶5ω3) into trienoic prostaglandins. Our results show that such conversion indeed occurs in kidney medullae homogenates. Specifically, the presence of prostaglandin E₃ (PGE₃) was established by gas chromatographic-mass spectrometric (GC-MS) analysis. That compound was conclusively identified by comparison of fragment ions and their relative intensities with those obtained from authentic PGE₃. Further evidence was provided by studying the recovery of exogenously added PGE₃. The crude ethyl acetate extracts of the medullary homogenates were methylated and cleaned up by liquid-gel chromatography with Lipidex-5000 prior to conversion to PGB₃ for GC-MS analysis. The PGE₃ was quantified by selected ion monitoring (SIM) with [3,3,4,4-²H₄PGE₂ as internal standard. The levels of PGE₃ were similar, about 3 ng/mg of wet tissue, in the 3 strains of rats. Identical in vivo conversion of the 20∶5ω3 fatty acid to PGE₃ could not be positively established by analysis of pooled urine specimens.     

A new ionic conductor from AgI and Ag2O.B2O3

A room temperature conductivity maximum was recognized in the system AgI:Ag₂O.B₂O₃ at 78.8 mole% AgI, the mobile species being silver ions.X-rays diffraction and DTA showed the glass-like nature of this material which maintains its good electrochemical performances in the temperature range 25–230°. The discharge behaviour of solid state galvanic cells containing this material is close to that obtained from 4AgI:Ag₂WO₄.     

IEN-CsF1 accuracy evaluation and two-way frequency comparison

In this paper we report the accuracy evaluation of the Italian primary frequency standard IEN-CsF1. We discuss the shifts the frequency standard is corrected for and the procedure used for the accuracy evaluation. In the last section we report frequency comparisons of our fountain with those of remote laboratories and with International Atomic Time.     

In vivo characterisation of a novel bioresorbable poly(lactide-co-glycolide) tubular foam scaffold for tissue engineering applications

Polylactide-co-glycolide (PLGA) foams of tubular shape were assessed for their use as soft-tissue engineering scaffolds in vitro and in vivo. Porous membranes were fabricated by a thermally induced phase separation process of PLGA solutions in dimethylcarbonate. The parameters investigated were the PLGA concentration and the casting volume of solution. Membranes produced from 5 wt/v % polymer solutions and a 6 ml casting volume of polymer solution were selected for fabricating tubes of 3 mm diameter, 20 mm length and a nominal wall thickness of 1.5 mm. Scanning electron microscopy revealed that the structure of the tubular foams consisted of radially oriented and highly interconnected pores with a large size distribution (50-300 microm). Selected tubes were implanted subcutaneously into adult male Lewis rats. Although the lumen of the tubes collapsed within one week of implantation, histological examination of the implanted scaffolds revealed that the foam tubes were well tolerated. Cellular infiltration into the foams, consisting mainly of fibrovascular tissue, was evident after two weeks and complete within eight weeks of implantation. The polymer was still evident in the scaffolds after eight weeks of implantation. The results from this study demonstrate that the PLGA tubular foams may be useful as soft-tissue engineering scaffolds with modification holding promise for the regeneration of tissues requiring a tubular shape scaffold such as intestine.     

Aerosol lidar intercomparison in the framework of the EARLINET project. 3. Raman lidar algorithm for aerosol extinction, backscatter, and lidar ratio

An intercomparison of the algorithms used to retrieve aerosol extinction and backscatter starting from Raman lidar signals has been performed by 11 groups of lidar scientists involved in the European Aerosol Research Lidar Network (EARLINET). This intercomparison is part of an extended quality assurance program performed on aerosol lidars in the EARLINET. Lidar instruments and aerosol backscatter algorithms were tested separately. The Raman lidar algorithms were tested by use of synthetic lidar data, simulated at 355, 532, 386, and 607 nm, with realistic experimental and atmospheric conditions taken into account. The intercomparison demonstrates that the data-handling procedures used by all the lidar groups provide satisfactory results. Extinction profiles show mean deviations from the correct solution within 10% in the planetary boundary layer (PBL), and backscatter profiles, retrieved by use of algorithms based on the combined Raman elastic-backscatter lidar technique, show mean deviations from solutions within 20% up to 2 km. The intercomparison was also carried out for the lidar ratio and produced profiles that show a mean deviation from the solution within 20% in the PBL. The mean value of this parameter was also calculated within a lofted aerosol layer at higher altitudes that is representative of typical layers related to special events such as Saharan dust outbreaks, forest fires, and volcanic eruptions. Here deviations were within 15%.     

Aerosol lidar intercomparison in the framework of the EARLINET project. 1. Instruments

In the framework of the European Aerosol Research Lidar Network to Establish an Aerosol Climatology (EARLINET), 19 aerosol lidar systems from 11 European countries were compared. Aerosol extinction or backscatter coefficient profiles were measured by at least two systems for each comparison. Aerosol extinction coefficients were derived from Raman lidar measurements in the UV (351 or 355 nm), and aerosol backscatter profiles were calculated from pure elastic backscatter measurements at 351 or 355, 532, or 1064 nm. The results were compared for height ranges with high and low aerosol content. Some systems were additionally compared with sunphotometers and starphotometers. Predefined maximum deviations were used for quality control of the results. Lidar systems with results outside those limits could not meet the quality assurance criterion. The algorithms for deriving aerosol backscatter profiles from elastic lidar measurements were tested separately, and the results are described in Part 2 of this series of papers [Appl. Opt. 43, 977-989 (2004)]. In the end, all systems were quality assured, although some had to be modified to improve their performance. Typical deviations between aerosol backscatter profiles were 10% in the planetary boundary layer and 0.1 x 10(-6) m(-1) sr(-1) in the free troposphere.     

Distributed Belief Revision

In this paper, a distributed approach to belief revision is presented. It is conceived as a collective activity of a group of interacting agents, in which each component contributes with its own local beliefs. The integration of the different opinions is performed not by an external supervisor, but by the entire group through an election mechanism. Each agent exchanges information with the other components and uses a local belief revision mechanism to maintain its cognitive state consistent. We propose a model for local belief revision/integration based on what we called: Principle of Recoverability. Computationally, our way to belief revision consists of three steps acting on the symbolic part of the information, so as to deal with consistency and derivation, and two other steps working with the numerical weight of the information, so as to deal with uncertainty. In order to evaluate and compare the characteristics and performance of the centralized and of the distributed approaches, we made five different experiments simulating a simple society in which each agent is characterized by a degree of competence, communicates with some others, and revise its cognitive state. The results of these experiments are presented in the paper.