Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Foraminiferal biotopes and their distribution control in Ria de Aveiro (Portugal): a multiproxy approach

Ria de Aveiro, which is located in the centre of Portugal (40° 38′ N, 8° 45′ W), is a well-mixed and complex coastal lagoon that is separated from the sea by a sandy barrier and connects with the Atlantic through an artificial inlet. Tidal currents are the main factor controlling the lagoon’s hydrodynamics and, to a great extent, the sedimentary dynamic. The inner lagoonal zones receive input from several rivers and experience the pressure caused by the accumulation of organic matter and pollutants (namely, trace metals) from diverse anthropic activities. This paper is the first piece of work aiming to recognize, characterize and explain the main benthic foraminiferal biotopes in Ria de Aveiro. To provide a broad overview of this kind of setting, our results are compared to those of previous published studies conducted in similar transitional environments. The research is based on an investigation of 225 sites spread throughout this ecosystem. Utilizing a statistical approach, this study analyses the details of dead benthic foraminiferal assemblages composed of 260 taxa, the texture and composition (mineralogical and geochemical) of the sediment and physicochemical data. On the basis of the results of R-mode and Q-mode cluster analyses, several different biotopes can be defined as marsh biotope/near-marsh biotope; marginal urban/marginal urban mixing biotope; inner-outer lagoon biotope or enclosed lagoon; outer lagoon biotope, mixed sub-biotope; and outer lagoon, marine sub-biotope. These biotopes are related to foraminifera assemblages and substrate type and are influenced by local currents, water depth, chemical and physicochemical conditions, river or oceanic proximity, and anthropogenic impact, as evidenced by the mapping of the six factor loadings of the principal component analysis conducted herein. Based on a similar methodology of analysis as that applied in previous studies in the Lagoon of Venice, comparable biotypes were identified in Lagoon of Aveiro.     

THE CIRCUIT RIDING ORDINANCE ADMINISTRATOR: A SOLUTION TO SMALL COMMUNITY TECHNICAL INADEQUACIES1

ABSTRACT: Small, rural communities (less than 2500 population) in general do not have governmental staffs with the breadth required to satisfactorily implement and enforce a drainage ordinance. This fact has serious implications in rural Planning. Within a six-country rural area of Southwest Virginia, the circuit riding town manager program has been successfully conducted. The circuit riding town manager is a planning staff member who acts in the capacity of a town manager (assistant to the mayor) for five small towns, any one of which alone could not afford to support the services of such a professional. This note recommends that a circuit riding technical ordiance administrator program could be developed along the same lines. In this manner, the technical ordinance program for serveral small communities could be successfully implemented.     

Estimating the background air concentration excluding the contribution of an individual source

This paper presents two simple methods for the estimation of the instantaneous background air pollution level in a study area around an emitting point source. The methods allow estimation of concentrations non-inclusive of the contribution of the local emitting source. Hourly records of several monitoring stations located around the point source and results of the diagnostic Lagrangian particle dispersion model LADISMO are used in the calculations. A hypothetical case study is used to demonstrate the application of the two methods. This revised version was published online in July 2006 with corrections to the Cover Date.     

NONPARAMETRIC STATISTICAL ANALYSIS OF ANNUAL PEAK FLOW DATA FROM A RECENTLY URBANIZED WATERSHED1

ABSTRACT. In order to demonstrate the feasibility of a nonparametric statistical application in investigating the hydrologic impact of the rapid land use change accompanying intense urbanization, annual maximum peak flow data from an actual example (the Northeast Branch Basin, a recently urbanized Washington, D.C., suburban watershed) were analyzed. Annual peak flow data from the Patuxent Basin above Unity, Maryland, a rural watershed in close proximity to the study area, were compared to data from the Northeast Branch for the Same period utilizing the Wilcoxon matched-pairs signed-ranks test. A change in central tendency of each series was noted at the 0.01 significance level; however, the change was negative in the rural basin and positive in the urbanized Northeast Branch Basin. This central tendency change was considered indicative of an average decrease in the size of rainstorms producing annual maximum peak discharges. Rainstorm data from the Northeast Branch Basin were divided into two equal periods (before urbanization and after) and the Wilcoxon test was applied. It was found that rainstorms producing maximum annual peak discharges in the urbanized period were indeed smaller than those in the prior period (0.01 level of significance); however, larger annual peaks were produced. It was concluded that nonparametric statistical methods can be used readily with conventional methods to isolate and clearly analyze the various problems in an actual urban hydrologic study.