Reproduction, body condition, age, and growth of a large sandy intertidal bivalve, Tivela stultorum

The iconic Pismo clam Tivela stultorum (Mawe, 1823) once supported a thriving commercial and recreational fishery in California, but populations have declined statewide in recent decades, in part due to overfishing. To manage and restore populations, fishery managers need accurate life history information, but critical data on reproductive cycles, maturity, and growth rates is either unknown or many decades old. This project aimed to (1) determine annual reproductive cycles and body condition of Pismo clams; (2) identify environmental drivers of reproduction and body condition; (3) determine size-age relationships among clams in California; and (4) estimate growth rates. Up to 70 clams mo-1 were collected from Pismo Beach, CA, for histological analysis to determine reproductive stage, measure a body condition index, and estimate ages from shells. Additional clams and shells were collected from sites north and south of Point Conception to compare growth and age at legal size between these 2 major oceanographic zones. Data suggests that reproductive timing deviates only slightly from historical records, with clams spawning later in the year than decades ago. Body condition indices correlate with reproductive stage 3 Ripe, providing an inexpensive proxy to monitor Pismo clam reproduction. Growth was faster in warmer Southern California compared to Central California, but still substantially slower than historical estimates; we estimate that Pismo clams reach the current legal size (114 mm) in 11.1 yr, several years later than previous estimates. Collectively, these data are critical to improve and guide management decisions for this once-abundant species

Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society

Cystic Fibrosis (CF) occurs most frequently in caucasian populations. Although less common, this disorder have been reported in all the ethnicities. Currently, there are more than 2000 described sequence variations in CFTR gene, uniformly distributed and including variants pathogenic and benign (CFTR1:www.genet.sickkids.on.ca/). To date,only a subset have been firmily established as variants annotated as disease-causing (CFTR2: www.cftr2.org). The spectrum and the frequency of individual CFTR variants, however, vary among specific ethnic groups and geographic areas. Genetic screening for CF with standard panels of CFTR mutations is widely used for the diagnosis of CF in newborns and symptomatic patients, and to diagnose CF carrier status. These screening panels have an high diagnostic sensitivity (around 85%) for CFTR mutations in caucasians populations but very low for non caucasians. Developed in the last decade, Next-Generation Sequencing (NGS) has been the last breakthrough technology in genetic studies with a substantial reduction in cost per sequenced base and a considerable enhancement of the sequence generation capabilities. Extended CFTR gene sequencing in NGS includes all the coding regions, the splicing sites and their flankig intronic regions, deep intronic regions where are localized known mutations,the promoter and the 5'-3' UTR regions. NGS allows the analysis of many samples concurrently in a shorter period of time compared to Sanger method . Moreover, NGS platforms are able to identify CFTR copy number variation (CNVs), not detected by Sanger sequencing. This technology has provided new and reliable approaches to molecular diagnosis of CF and CFTR-Related Disorders. It also allows to improve the diagnostic sensitivity of newborn and carrier screeningmolecular tests. In fact, bioinformatics tools suitable for all the NGS platforms can filter data generated from the gene sequencing, and analyze only mutations with well-established disease liability. This approach allows the development of targeted mutations panels with a higher number of frequent CF mutations for the target populationcompared to the standard panels and a consequent enhancement of the diagnostic sensitivity. Moreover, in the emerging challenge of diagnosing CF in non caucasians patients, the possibility of customize a NGS targeted mutations panel should increase the diagnostic sensitivity when the target population has different ethnicities