Association of polymorphisms of the β‐defensin 1 gene with nematode and protozoan infection traits in goat

This study's purpose was to identify polymorphisms (SNP) in the goat β‐defensin 1 gene and to associate these SNPs with traits related to nematodean and protozoan infections in Anglo‐Nubian goats from semiarid region of Brazil. A total of 184 animals were used for DNA extraction, PCR and DNA automatic sequencing. The association analyses included the fixed effects of animal age, bloodline and genotype of the SNP marker in the statistical model. The means of genotypes were compared by the Fisher test (P < 0.05). Twelve polymorphism genotypes were found: two in intron 1, seven in exon 2 and three in 3′ untranslated region. The SNPs of exon 2 were responsible for amino acid substitutions in six genetic codes, and the changes in the 25th and 33rd codes affected the protein function. The SNP 1937 was significantly associated with number of protozoan oocysts, whereas SNP 2001 was associated with degree of anaemia (Famacha©). Polymorphism 2046, in turn, showed a significant association with Famacha© degree and number of protozoan oocysts. SNP 2140 associated with maximum EPG of the animal. Results from this study suggest that the β‐defensin 1 gene can be used as a molecular marker for selection of goats regarding the susceptibility to endoparasites infections.     

Epidemiology and economic burden of herpes zoster and post-herpetic neuralgia in Italy: A retrospective,population-based study

Background  

Data on the epidemiology and cost of herpes zoster (HZ) and post-herpetic neuralgia (PHN) in Italy are limited. This retrospective, population-based study was designed to determine the incidence of HZ and the proportion developing PHN in Italy and the associated medical resource utilisation and costs. It focused primarily on immunocompetent patients aged ≥50 years who would be eligible for preventive vaccination.     

Comparative study of the topical effectiveness of the Andiroba oil (Carapa guianensis) and DEET 50% as repellent for Aedes sp

DEET (N,N-diethyl-3-methylbenzamide) is nowadays the most effective mosquito repellent available, however, its use can present some topical and systemic side effects. Some botanical compositions, as Andiroba (Carapa guianensis), have been proved repellent properties at low cost and toxicity. An experimental study was driven involving four volunteers submitting their forearms covered with Andiroba oil at 100%, DEET 50%, refined soy oil, Andiroba oil 15% and in the absence of products, directly to healthy females of Aedes sp. The times of first and third bites were checked. The results showed that the median of the first bite without any product was 17.5s and the third bite, 40.0s. In the soy oil, the bites happened in 60.0s and 101.5s, in the presence of Andiroba oil 100%, in 56.0s and 142.5s and in Andiroba oil 15%, in 63.0s and 97.5s. The volunteers using DEET 50% had not received bites after 3600s in most of the experiments (p < 0.001 Wilcoxon). Pure Andiroba oil compared to the soy oil, forearm without product and Andiroba oil 15%, showed discreet superiority (p < 0.001 Wilcoxon). Our conclusion is that this study demonstrated that the pure Andiroba oil presents discreet repellent effect against bite of Aedes sp., being significantly inferior to DEET 50%.     

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length. FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18). Both FSHD types require permissive polyadenylation signal (4qA) downstream of the D4Z4 array.     

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Inherited neuromuscular disorders (NMD) are chronic genetic diseases posing a significant burden on patients and the health care system. Despite tremendous research and clinical efforts, the molecular causes remain unknown for nearly half of the patients, due to genetic heterogeneity and conventional molecular diagnosis based on a gene-by-gene approach. We aimed to test next generation sequencing (NGS) as an efficient and cost-effective strategy to accelerate patient diagnosis. We designed a capture library to target the coding and splice site sequences of all known NMD genes and used NGS and DNA multiplexing to retrieve the pathogenic mutations in patients with heterogeneous NMD with or without known mutations. We retrieved all known mutations, including point mutations and small indels, intronic and exonic mutations, and a large deletion in a patient with Duchenne muscular dystrophy, validating the sensitivity and reproducibility of this strategy on a heterogeneous subset of NMD with different genetic inheritance. Most pathogenic mutations were ranked on top in our blind bioinformatic pipeline. Following the same strategy, we characterized probable TTN, RYR1 and COL6A3 mutations in several patients without previous molecular diagnosis. The cost was less than conventional testing for a single large gene. With appropriate adaptations, this strategy could be implemented into a routine genetic diagnosis set-up as a first screening approach to detect most kind of mutations, potentially before the need of more invasive and specific clinical investigations. An earlier genetic diagnosis should provide improved disease management and higher quality genetic counseling, and ease access to therapy or inclusion into therapeutic trials.     

Dietary Supplement Enriched in Antioxidants and Omega-3 Promotes Glutamine Synthesis in Müller Cells: A Key Process against Oxidative Stress in Retina

To prevent ocular pathologies, new generation of dietary supplements have been commercially available. They consist of nutritional supplement mixing components known to provide antioxidative properties, such as unsaturated fatty acid, resveratrol or flavonoids. However, to date, only one preclinical study has evaluated the impact of a mixture mainly composed of those components (Nutrof Total^®) on the retina and demonstrated that in vivo supplementation prevents the retina from structural and functional injuries induced by light. Considering the crucial role played by the glial Müller cells in the retina, particularly to regulate the glutamate cycle to prevent damage in oxidative stress conditions, we questioned the impact of this ocular supplement on the glutamate metabolic cycle. To this end, various molecular aspects associated with the glutamate/glutamine metabolism cycle in Müller cells were investigated on primary Müller cells cultures incubated, or not, with the commercially mix supplement before being subjected, or not, to oxidative conditions. Our results demonstrated that in vitro supplementation provides guidance of the glutamate/glutamine cycle in favor of glutamine synthesis. These results suggest that glutamine synthesis is a crucial cellular process of retinal protection against oxidative damages and could be a key step in the previous in vivo beneficial results provided by the dietary supplementation.     

Early experience with a modified preloaded system for fenestrated endovascular aortic repair

Objective

Preloaded endovascular delivery systems expand the anatomic eligibility for complex aortic repair by requiring only one iliac access vessel and providing a stable platform for guiding sheaths into challenging target vessels. This article reports the lessons learned and early clinical outcomes using a modified preloaded delivery system for fenestrated endovascular aneurysm repair (FEVAR) in three aortic centers in Europe.

Outbreak of leptospirosis after a race in the tropical forest of Martinique

Three athletes who participated in a race in the tropical forest of the Caribbean island of Martinique were subsequently diagnosed with leptospirosis using polymerase chain reaction (PCR). We investigated an outbreak to evaluate possible risk factors, and to determine the appropriate public health recommendations. Of 230 athletes, we contacted 148 (64%) and 20 (13.5%) met our case definition. Five were hospitalized and none were fatal. Ten (91%) of the 11 ill athletes who were tested were confirmed by PCR or serology. Serogroup Pyrogenes was commonly found. Cutaneous cuts, reported by 14 (73.7%), was the only potential risk factor using univariate analysis. Sporting event participants in tropical areas should be made aware of specific warnings and recommendations concerning the risk of leptospirosis, especially after periods of heavy rainfall or flooding. Rapid diagnostic assays such as PCR are particularly appropriate in this setting for early diagnosis and for formulating public health recommendations.