Intraspecific competition among larvae of Aedes albopictus in conditions of food abundance and shortage

The competition between larvae of Aedes albopictus (Skuse, 1987), an invasive mosquito species recently established in Italy, was evaluated in laboratory in conditions of food abundance and shortage. The number of emerging adults, the time of emergence and the size of the adult bodies were recorded and compared. The number of adults that emerge under conditions of food abundance was found to be significantly higher than under food shortage. When food was lacking more males than females emerged and there was no significant difference in their body sizes, while under food abundance females were larger than males. Both males and females with abundant food were on average bigger than under food shortage. There was no difference in the time of adult emergence in the two different food condition

Application of ATR-far-infrared spectroscopy to the analysis of natural resins

n/

Pheochromocytoma mimicking a non-ST elevation acute myocardial infarction

We report a 57 year-old male patient admitted with a diagnosis of non-ST elevation acute myocardial infarction. He had suffered from chest pain, diaphoresis and intense asthenia for three days. The electrocardiogram on admission showed a high frequency sinus tachycardia. Troponin T levels were elevated. An echocardiogram suggested an antero-lateral myocardial infarction. Eventually, a left adrenal pheochromocytoma was discovered. Left ventricular function, severely depressed, returned to normal after medical and surgical therapy

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation

n/

Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

<p>Abstract</p> <p>Background</p> <p>Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS). Mutations in ABHD5/CGI58 gene are associated with CDS.</p> <p>Methods</p> <p>Eight CDS patients belonging to six different families from Mediterranean countries were enrolled for genetic study. Molecular analysis of the ABHD5 gene included the sequencing of the 7 coding exons and of the putative 5' regulatory regions, as well as reverse transcript-polymerase chain reaction analysis and sequencing of normal and aberrant ABHD5 cDNAs.</p> <p>Results</p> <p>Five different mutations were identified, four of which were novel, including two splice-site mutations (c.47+1G>A and c.960+5G>A) and two large deletions (c.898_*320del and c.662-1330_773+46del). All the reported mutations are predicted to be pathogenic because they lead to an early stop codon or a frameshift producing a premature termination of translation. While nonsense, missense, frameshift and splice-site mutations have been identified in CDS patients, large genomic deletions have not previously been described.</p> <p>Conclusions</p> <p>These results emphasize the need for an efficient approach for genomic deletion screening to ensure an accurate molecular diagnosis of CDS. Moreover, in spite of intensive molecular screening, no mutations were identified in one patient with a confirmed clinical diagnosis of CDS, appointing to genetic heterogeneity of the syndrome.</p

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

AbstractFollowing the publication of this article [Redaelli C et al, Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis 2010; 5: 33.], it was clarified that the clinical follow-up of one of CDS family described in the manuscript was performed by Dr. Amalia Sertedaki and Talia Kakourou. The authorship of the article has been changed accordingly. The submitting authors would like to apologise to Amalia Sertedaki and Talia Kakourou for this error and they would like to thank Catherine Dacou-Voutetakis for underlining the problem

Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases

Background: The cause of chronic liver diseases (CLD) remains undiagnosed in up to 30% of adult patients. Whole-Exome Sequencing (WES) can improve the diagnostic rate of genetic conditions, but it is not yet widely available, due to the costs and the difficulties in results interpretation. Targeted panel sequencing (TS) represents an alternative more focused diagnostic approach.Aims: To validate a customized TS for hereditary CLD diagnosis.Methods: We designed a customized panel including 82 CLD-associated genes (iron overload, lipid metabolism, cholestatic diseases, storage diseases, specific hereditary CLD and susceptibility to liver diseases). DNA samples from 19 unrelated adult patients with undiagnosed CLD were analyzed by both TS (HaloPlex) and WES (SureSelect Human All Exon kit v5) and the diagnostic performances were compared.Results: The mean depth of coverage of TS-targeted regions was higher with TS than WES (300x vs. 102x; p &lt; 0.0001). Moreover, TS yielded a higher average coverage per gene and lower fraction of exons with low coverage (p &lt; 0.0001). Overall, 374 unique variants were identified across all samples, 98 of which were classified as “Pathogenic” or “Likely Pathogenic” with a high functional impact (HFI). The majority of HFI variants (91%) were detected by both methods; 6 were uniquely identified by TS and 3 by WES. Discrepancies in variant calling were mainly due to variability in read depth and insufficient coverage in the corresponding target regions. All variants were confirmed by Sanger sequencing except two uniquely detected by TS. Detection rate and specificity for variants in TS-targeted regions of TS were 96.9% and 97.9% respectively, whereas those of WES were 95.8% and 100%, respectively.Conclusion: TS was confirmed to be a valid first-tier genetic test, with an average mean depth per gene higher than WES and a comparable detection rate and specificity