A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.

Increased expression of cystine/glutamate antiporter in multiple sclerosis

Background: Glutamate excitotoxicity contributes to oligodendrocyte and tissue damage in multiple sclerosis (MS). Intriguingly, glutamate level in plasma and cerebrospinal fluid of MS patients is elevated, a feature which may be related to the pathophysiology of this disease. In addition to glutamate transporters, levels of extracellular glutamate are controlled by cystine/glutamate antiporter x(c)(-), an exchanger that provides intracellular cystine for production of glutathione, the major cellular antioxidant. The objective of this study was to analyze the role of the system x(c)(-) in glutamate homeostasis alterations in MS pathology. -- Methods: Primary cultures of human monocytes and the cell line U-937 were used to investigate the mechanism of glutamate release. Expression of cystine glutamate exchanger (xCT) was quantified by quantitative PCR, Western blot, flow cytometry and immunohistochemistry in monocytes in vitro, in animals with experimental autoimmune encephalomyelitis (EAE), the animal model of MS, and in samples of MS patients. -- Results and discussion: We show here that human activated monocytes release glutamate through cystine/glutamate antiporter x(c)(-) and that the expression of the catalytic subunit xCT is upregulated as a consequence of monocyte activation. In addition, xCT expression is also increased in EAE and in the disease proper. In the later, high expression of xCT occurs both in the central nervous system (CNS) and in peripheral blood cells. In particular, cells from monocyte-macrophage-microglia lineage have higher xCT expression in MS and in EAE, indicating that immune activation upregulates xCT levels, which may result in higher glutamate release and contribution to excitotoxic damage to oligodendrocytes. -- Conclusions: Together, these results reveal that increased expression of the cystine/glutamate antiporter system x(c)(-) in MS provides a link between inflammation and excitotoxicity in demyelinating diseases.

The Rise and Fall of Water Net (Hydrodictyon reticulatum) in New Zealand

During the late 1980s to early 1990s a range of aquatic habitats in the central North Island of New Zealand were invaded by the filamentous green alga, water net Hydrodictyon reticulatum (Linn. Lagerheim). The alga caused significant economic and recreational impacts at major sites of infestation, but it was also associated with enhanced invertebrate numbers and was the likely cause of an improvement in the trout fishery. The causes of prolific growth of water net and the range of control options pursued are reviewed. The possible causes of its sudden decline in 1995 are considered, including physical factors, increase in grazer pressure, disease, and loss of genetic vigour.

Desarrollo de la herramienta Admintool usando tecnología .NET

Desarrollo de la herramienta ADMINTOOL para administración de la plataforma Microsoft (Active Directory , Permisos NTFS), en base a tecnologia .NET

A methodology for the semiautomatic annotation of EPEC-RolSem, a basque corpus labeled at predicative level following the PropBank-Verb Net model

In this article we describe the methodology developed for the semiautomatic annotation of EPEC-RolSem, a Basque corpus labeled at predicate level following the PropBank-VerbNet model. The methodology presented is the product of detailed theoretical study of the semantic nature of verbs in Basque and of their similarities and differences with verbs in other languages. As part of the proposed methodology, we are creating a Basque lexicon on the PropBank-VerbNet model that we have named the Basque Verb Index (BVI). Our work thus dovetails the general trend toward building lexicons from tagged corpora that is clear in work conducted for other languages. EPEC-RolSem and BVI are two important resources for the computational semantic processing of Basque; as far as the authors are aware, they are also the first resources of their kind developed for Basque. In addition, each entry in BVI is linked to the corresponding verb-entry in well-known resources like PropBank, VerbNet, WordNet, Levin’s Classification and FrameNet. We have also implemented several automatic processes to aid in creating and annotating the BVI, including processes designed to facilitate the task of manual annotation.

A schematic analysis and discussion of species taken by otter trawl net by the research vessel Orion from July, 1965 to June 1966 in the Chesapeake Bay and major tributaries

From July 1965 to June 1964 the Natural Resources Institute's Research Vessel ORION took 16 minute tows with a forty (40) foot otter trawl net at 38 selected locations in Chesapeake Bay from the south of the Potomac River to Turkey Point at the head of the Bay and including some tributaries. Shallow and deep hauls were taken at most stations with depths ranging from 5 to 140 feet. A schematic summary of the 54 different species caught was compared with "Fishes of the Chesapeake Bay" by S. F. Hildebrand and W. C. Schroeder. Sixteen species including five not contained in the above references were selected for discussion. (PDF contains 21 pages)

Stimulation discomfort comparison of asynchronous and synchronous methods with multi-field electrodes

Functional Electrical Stimulation (FES) is a technique that consists on applying electrical current pulses to artificially activate motor nerve fibers and produce muscle contractions to achieve functional movements. The main applications of FES are within the rehabilitation field, in which this technique is used to aid recovery or to restore lost motor functions. People that benefit of FES are usually patients with neurological disorders which result in motor dysfunctions; most common patients include stroke and spinal cord injury (SCI). Neuroprosthesis are devices that have their basis in FES technique, and their aim is to bridge interrupted or damaged neural paths between the brain and upper or lower limbs. One of the aims of neuroprosthesis is to artificially generate muscle contractions that produce functional movements, and therefore, assist impaired people by making them able to perform activities of daily living (ADL). FES applies current pulses and stimulates nerve fibers by means of electrodes, which can be either implanted or surface electrodes. Both of them have advantages and disadvantages. Implanted electrodes need open surgery to place them next to the nerve root, so these electrodes carry many disadvantages that are produced by the use of invasive techniques. In return, as the electrodes are attached to the nerve, they make it easier to achieve selective functional movements. On the contrary, surface electrodes are not invasive and are easily attached or detached on the skin. Main disadvantages of surface electrodes are the difficulty of selectively stimulating nerve fibers and uncomfortable feeling perceived by users due to sensory nerves located in the skin. Electrical stimulation surface electrode technology has improved significantly through the years and recently, multi-field electrodes have been suggested. This multi-field or matrix electrode approach brings many advantages to FES; among them it is the possibility of easily applying different stimulation methods and techniques. The main goal of this thesis is therefore, to test two stimulation methods, which are asynchronous and synchronous stimulation, in the upper limb with multi-field electrodes. To this end, a purpose-built wrist torque measuring system and a graphic user interface were developed to measure wrist torque produced with each of the methods and to efficiently carry out the experiments. Then, both methods were tested on 15 healthy subjects and sensitivity results were analyzed for different cases. Results show that there are significant differences between methods regarding sensation in some cases, which can affect effectiveness or success of FES.

Net phytoplankton and zooplankton in the New York Bight, January 1976 to February 1978, with comments on the effects of wind, Gulf Stream eddies, and slope water intrusions

Results are given of monthly net phytoplankton and zooplankton sampling from a 10 m depth in shelf, slope, and Gulf Stream eddy water along a transect running southeastward from Ambrose Light, New York, in 1976, 1977, and early 1978. Plankton abundance and temperature at 10 m and sea surface salinity at each station are listed. The effects of atmospheric forcing and Gulf Stream eddies on plankton distribution and abundance arc discussed. The frequency of Gulf Stream eddy passage through the New York Bight corresponded with the frequency of tropical-subtropical net phytoplankton in the samples. Gulf Stream eddies injected tropical-subtropical zooplankton onto the shelf and removed shelfwater and its entrained zooplankton. Wind-induced offshore Ekman transport corresponded generally with the unusual timing of two net phytoplankton maxima. Midsummer net phytoplankton maxima were recorded following the passage of Hurricane Belle (August 1976) and a cold front (July 1977). Tropical-subtropical zooplankton which had been injected onto the outer shelf by Gulf Stream eddies were moved to the inner shelf by a wind-induced current moving up the Hudson Shelf Valley. (PDF file contains 47 pages.)

Estimating abundances of 0-group western Baltic cod by using pound net fisheries

Nearshore 0-group western Baltic cod are frequently caught as bycatch in the commercial pound net fishery. Pound net fishermen from the Danish Isle of Funen and Lolland and the German Isle of Fehmarn have recorded their catches of small cod between September and December 2008. Abundance patterns were analysed, particularly concerning the influence of abiotic factors (hydrography, meteorology) and the differences between sampling sites. Catch per unit effort (CPUE) differed by site and location, whereas CPUE were highest at Lolland. Correlation between catch and wind/currents were generally weak. However, wind directions and current speeds seem to affect the catch rates. Finally an algorithm was developed to calculate a recruitment index for western Baltic cod recruitment success based on previous analyses.

Preliminary studies on bamboo floating cage and net enclosure culture in Kainji Lake basin

The main objective of this paper is to introduce bamboo floating cage and net enclosure fish culture technology aimed at producing fish from almost all available inland bodies of water in Nigeria. The experimental approach embarked upon at Kainji Lake Research Institute is discussed. Results obtained from these experiments would help in identifying the inherent problems of this culture system and in determining the urgently needed information that will serve as management and production guidelines for adapting the technology to local conditions of varying ecological characteristics in Nigeria. Ultimately, the project is aimed at increasing the productivity of fishermen/fish farmers and hastening the development of rural communities

Small scale commercial production of tilapia fingerlings in floating bamboo net-hapas

The inadequate supply of tilapia seed is considered as one of the major present constraints to the development of the culture industry in Nigeria. The floating bamboo net-hapa hatchery/nursery system was observed to be very efficient in the mass production of tilapia (Oreochromis niloticus) fry and fingerlings at Kainji Lake Research Institute. This system was therefore, recommended for small-scale (artisanal) commercial operators consisting of fishermen families in order to increase their productivity and hasten development of rural communities. The economic analysis of this system showed that loan obtained for the recommended scale of operation can be amortized within 2 years of the project. It was emphasized that the operational and managerial skills of the fish farm operators account largely to the production cost and profitability of the enterprise

A study of the length at maturity and hooks/gill net mesh selection in Clarias lazera from Lake Chad

The minimum length at first maturity of Clarias lazera was found to be 24 cm (4.8%) for females and 20 cm (1.8%) for males. Fifty percent maturity was attained at length of 28 cm to 30 cm for both sexes; there being little difference among the sexes at this level of maturity. The modal retention lengths for gill nets were: 13 cm for 25.5 mm mesh; 18 cm for 32 mm mesh; 28 cm for 57 mm mesh; and 38 cm for 76 mm mesh. Modal lengths of Clarias lazera caught by various hooks sizes were No. 10 (28 cm); No. 11 (33 cm); Nos. 15 and 16 (28 cm). It is recommended that to protect the clarias fishery in Lake Chad, the use of gill nets of less than 57 mm mesh size and fishing hook No. 16 (and smaller sizes) which caught 43.94% of immature fishes should be discouraged

Commercial aquaculture in Nigeria: a vertically integrated approach in the commercial freshwater farming of tilapia in floating bamboo net-hapas and cages systems

Tilapia once termed "poor man's" fish, still remains as the highly-priced food fish in many developing countries. The good attributes of this fish prompt its use in intensive aquaculture vertically integrated systems (VIS) which embrace broodstock development, hatchery/nursery and growout phase. Based on the series of studies carried out at Kainji Lake Research Institute, in New Bussa, Nigeria using Oreochromis (Tilapia niloticus) in floating bamboo hapas/cages, the recommended intensive modular systems were estimated to be capable of producing 4 million Tilapia fingerlings and 729 tons fish (Market-size) annually. Cost-benefit analysis showed the venture to have high prospects. It is recommended that priority be given to Tilapia cage culture at the national level in order to contribute immensely towards increased fish production

Commercial mariculture of Oreochromis niloticus using net cages

The culture of tilapia has a long history in Africa. Fossil remains of members of the genus have been found which are about 18 million years old (Fryer and Iles, 1972). Oreochromis niloticus was the subject of detailed observations in Egypt of 5,000 years ago. A bas relief of 2,500B.C. depicts tilapia being reared in ponds in Egypt. However, despite this long history the prolific nature of this fish results in very high populations in pond culture systems. Consequently small size fish are harvested. Several methods have thus been tried to control the excessive reproduction of tilapia in captivity with only partial success. This paper reports how large size tilapia especially O. niloticus averaging at least 150g per piece can be commercially produced using floating net cages in the marine environment

The effect of long term exploitation by the gill net fishery on the multispecies fish stocks in Kainji Lake, Nigeria, 1969-1997

The findings are presented of an assessment made of the gillnet fishery in Kainji Lake, Nigeria from 1969 to the present, on the basis of data sets from commercial and experimental gillnet fishing, with the purpose to detect trends in some key fishery monitoring indicators. During this period, there has been an increase in the number of small meshed nets in the fishery resulting in a shift in the mode to lower mesh sizes; consequently, the average mesh size declined gradually in the fishery. This trend is found to be directly correlated with the decline in the CPUE and mean weight of the fish species. It is argued that the observed trend in CPUE and mean weight is forcing the fishermen to switch effort to gears such as traps which have very small meshes and can indescriminately take all sizes of the fish. It is shown that the catch composition by weight of Citharinus citharus, Lates niloticus and tilapias declined in the gillnet fishery in the late 70's and early 80's. Recent data, from 1994 to 1996, however indicates that C. citharus is recovering, but with declining mean weight. This suggests that the exploitation pattern is shifting to the smaller fish through the use of small meshed nets. In general, however, there has not been drastic changes in species bio-diversity in the Lake as a result of predatory effect and ecosystem overfishing as has happened in other great African Lakes. The species composition since lake formation continued to be dominated by fewer that 20 species. The potential yield for the lake has been estimated to be 32,166 tonnes (excluding clupeids) and the required optimum fishing effort to be 1,814 fishing canoes. In view of the relative stability of the species diversity in the lake and the current fish production level, it is proposed here that this MSY be adopted for all species. This would be achieved with the current effort level in the lake assuming that the efficiency of the fishermen and their gears do not improve. It should be reviewed after 10 or more years of catch and effort data collection. (PDF contains 65 pages)