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.

Monitoring the Tension and the Temperature in an Overhead Line

MELECON 2012 - 2012 16th IEEE Mediterranean Electrotechnical Conference, 25 Mar - 28 Mar 2012, Túnez

System for ampacity monitoring and low sag overhead conductor evaluation

MELECON 2012 - 2012 16th IEEE Mediterranean Electrotechnical Conference, 25 Mar - 28 Mar 2012, Túnez

Carmel River Lagoon Enhancement Project: Water Quality and Aquatic Wildlife Monitoring, 2006-7

This is a report to the California Department of Parks and Recreation. It describes water quality and aquatic invertebrate monitoring after the construction of the Carmel River Lagoon Enhancement Project. Included are data that have been collected for two years and preliminary assessment of the enhanced ecosystem. This report marks the completion of 3-years of monitoring water quality and aquatic habitat. The report adopts the same format and certain background text from previous years’ reporting by the same research group (e.g. Larson et al., 2005). (Document contains 100 pages)

Carmel River Lagoon Enhancement Project: Water Quality and Aquatic Wildlife Monitoring, 2005-6

In summer and fall 2004, the California Department of Parks and Recreation (DPR) initiated the Carmel River Lagoon Enhancement Project. The project involved excavation of a dry remnant Arm of the lagoon and adjacent disused farmland to form a significant new lagoon volume. The intention was to provide habitat, in particular, for two Federally threatened species: the California Red-Legged Frog, and the Steelhead Trout (South Central-Coastal California Evolutionary Significant Unit). DPR contracted with the Foundation of California State University Monterey Bay (Central Coast Watershed Studies Team, Watershed Institute) to monitor water quality and aquatic invertebrates in association with the enhancement, and to attempt to monitor steelhead using novel video techniques. The monitoring objective was to assess whether the enhancement was successful in providing habitat with good water quality, adequate invertebrate food for steelhead, and ultimately the presence of steelhead. (Document contains 102 pages)

Florida's ground water quality monitoring program: background hydrogeochemistry

The purpose of this report is to present the results of the initial quantification of background water quality in each of the state's major potable aquifer systems. Results are presented and interpreted in light of the influencing factors which locally and regionally affect ambient ground-water quality. This initial data will serve as a baseline from which future sampling results can be compared. Future sampling of the Network will indicate the extent to which Florida's regional ground-water resources are improving or declining in quality. (Document has 378 pages.)

Report of the PICES-STA Workshop on Monitoring Subarctic North Pacific Variability

The PICES Science Board and the Science and Technology Agency of Japan held a Workshop on Monitoring Subarctic North Pacific Vaiability,October 22-23,1994, in Nemuro,Hokkaido,Japan,in conjunction with the PICES Third Annual Meeting. The Workshop was not intended to discuss process studies or to review the science of the subaractic Pacific,but rather to focus on the longterm monitoring programs required for assessment of the physical and ecological responses to long-term forcing,both natural and man-made. (PDF contains 90 pages)

Beach monitoring project Sand Key Phase II Beach nourishment program (North Redington Beach and Redington Shores) Post-Nourishment Report Part II Offshore Profiles and Wave Data

This study presents the third post-nourishment survey (January 1989) results for the Sand Key Phase II beach nourishment project carried out in June, 1988. The monitoring program to this beach nourishment project is a joint effort between the University of South Florida and University of Florida. The field surveys include a total of 26 profiles, encompassing approximately 3 miles of shoreline extending from DNR R-96 to R-1ll. The total calculated volume loss of sand in the nourished segment (from R-99G to R-107) between the July 88 and January 89 surveys is 51,113 cubic yards, which is a loss about 9.7 percent of 529,150 cubic yards actually placed in the nourishment project. The total loss of sand computed in the entire survey area is 26,796 cubic yards, which is only 5.1 percent of the sand placed in the nourishment project. It is stressed that a part of these net volume reductions is due to the background erosion and not due to spreading losses induced by the nourishment project. (PDF contains 168 pages.)

Control of Variable Watermilfoil in Bashan Lake, CT with 2,4-D: Monitoring of Lake and Well Water.

Variable watermilfoil (Myriophyllum heterophyllum Michx.) has recently become a problem in Bashan Lake, East Haddam, CT, USA. By 1998, approximately 4 ha of the 110 ha lake was covered with variable watermilfoil. In 1999, the milfoil was spot treated with Aquacide®, an 18% active ingredient of the sodium salt of 2,4-D [(2,4-dichlorophenoxy) acetic acid], applied at a rate of 114 kg/ha. Aquacide® was used because labeling regarding domestic water intakes and irrigation limitations prevented the use of Navigate® or AquaKleen®, a 19% active ingredient of the butoxyethyl ester of 2,4-D. Variable watermilfoil was partially controlled in shallow protected coves but little control occurred in deeper more exposed locations. 2,4-D levels in the treatment sites were lower than desired and offsite dilution was rapid. In 2000, the United States Environmental Protection Agency (USEPA) issued a special local need (SLN) registration to allow the use of Navigate ® or AquaKleen® in lakes with potable and irrigation water intakes. Navigate® was applied at a rate of 227 kg/ha to the same areas as treated in 1999. An additional 2 ha of variable watermilfoil was treated with Navigate® in 2001, and 0.4 ha was treated in mid-September. Dilution of the 2,4-D ester formulation to untreated areas was slower than with the salt formulation. Concentrations of 2,4-D exceeded 1000 μg/ L in several lake water samples in 2000 but not 2001. Nearly all of the treated variable watermilfoil was controlled in both years. The mid-September treatment appeared as effective as the spring and early summer treatments. Testing of homeowner wells in all 3 years found no detectable levels of 2,4-D.(PDF contains 8 pages.)

Channel Islands marine protected areas first 5 years of monitoring: 2003-2008 [Report produced by the California Department of Fish and Game in collaboration with the Partnership for Interdisciplinary Studies of Coastal Oceans (PISCO), Channel Islands National Marine Sanctuary, and Channel Islands National Park]

The Channel Islands—sometimes called the Galapagos of North America—are known for their great beauty, rich biodiversity, cultural heritage, and recreational opportunities. In 1980, in recognition of the islands’ importance, the United States Congress established a national park encompassing 5 of California’s Channel Islands (Santa Barbara, Anacapa, Santa Cruz, Santa Rosa, and San Miguel Islands) and waters within 1 nautical mile of the islands. In the same year, Congress declared a national marine sanctuary around each of these islands, including waters up to 6 nautical miles offshore. Approximately 60,000 people visit the Channel Islands each year for aquatic recreation such as fishing, sailing, kayaking, wildlife watching, surfing, and diving. Another 30,000 people visit the islands for hiking, camping, and sightseeing. Dozens of commercial fishing boats based in Santa Barbara, Ventura, Oxnard, and other ports go to the Channel Islands to catch squid, spiny lobster, sea urchin, rockfish, crab, sheephead, flatfish, and sea cucumber, among other species. In the past few decades, advances in fishing technology and the rising number of fishermen, in conjunction with changing ocean conditions and diseases, have contributed to declines in some marine fishes and invertebrates at the Channel Islands. In 1998, citizens from Santa Barbara and Ventura proposed establishment of no-take marine reserves at the Channel Islands, beginning a 4-year process of public meetings, discussions, and scientific analyses. In 2003, the California Fish and Game Commission designated a network of marine protected areas (MPAs) in state waters around the northern Channel Islands. In 2006 and 2007, the National Oceanic and Atmospheric Administration (NOAA) extended the MPAs into the national marine sanctuary’s deeper, federal waters. To determine if the MPAs are protecting marine species and habitats, scientists are monitoring ecological changes. They are studying changes in habitats; abundance and size of species of interest; the ocean food web and ecosystem; and movement of fish and invertebrates from MPAs to surrounding waters. Additionally, scientists are monitoring human activities such as commercial and recreational fisheries, and compliance with MPA regulations. This booklet describes some results from the first 5 years of monitoring the Channel Islands MPAs. Although 5 years is not long enough to determine if the MPAs will accomplish all of their goals, this booklet offers a glimpse of the changes that are beginning to take place and illustrates the types of information that will eventually be used to assess the MPAs’ effectiveness. (PDF contains 24 pages.)

Monitoring hydrilla using two RAPD procedures and the Nonindigenous Aquatic Species database

Hydrilla ( Hydrilla verticillata (L.f.) Royle), an invasive aquatic weed, continues to spread to new regions in the United States. Two biotypes, one a female dioecious and the other monoecious have been identified. Management of the spread of hydrilla requires understanding the mechanisms of introduction and transport, an ability to map and make available information on distribution, and tools to distinguish the known U.S. biotypes as well as potential new introductions. Review of the literature and discussions with aquatic scientists and resource managers point to the aquarium and water garden plant trades as the primary past mechanism for the regional dispersal of hydrilla while local dispersal is primarily carried out by other mechanisms such as boat traffic, intentional introductions, and waterfowl. The Nonindigenous Aquatic Species (NAS) database is presented as a tool for assembling, geo-referencing, and making available information on the distribution of hydrilla. A map of the current range of dioecious and monoecious hydrilla by drainage is presented. Four hydrilla samples, taken from three discrete, non-contiguous regions (Pennsylvania, Connecticut, and Washington State) were examined using two RAPD assays. The first, generated using primer Operon G17, and capable of distinguishing the dioecious and monoecious U.S. biotypes, indicated all four samples were of the monoecious biotype. Results of the second assay using the Stoffel fragment and 5 primers, produced 111 markers, indicated that these samples do not represent new foreign introductions. The differences in the monoecious and dioecious growth habits and management are discussed.