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Browsing by Issue Date, starting with "2015-11-10"

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  • Characterization of the First PCSK9 Gain of Function Homozygote
    Publication . Alves, Ana Catarina; Etxebarria, Aitor; Medeiros, Ana Margarida; Benito-Vicente, Asier; Thedrez, Aurélie; Passard, Maxime; Croyal, Mikaël; Martin, Cesar; Lambert, Gilles; Bourbon, Mafalda
    Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative PCSK9 GOF missense variants (p.[(Ala62Asp)]; [(Pro467Ala)]), and no mutation in the low-density lipoprotein (LDL) receptor (LDLR) or in apolipoprotein B100 (APOB) genes. The proband was referred to the Portuguese FH Study (1) at age 11 and presented a total cholesterol of 316 mg/dl and low-density lipoprotein cholesterol (LDL-C) of 234 mg/dl on a strict diet. The phenotype presented by all PCSK9 heterozygous carriers within this large pedigree is similar to APOB heterozygous carriers (LDL-C, 198.75 ± 14.98 mg/dl vs. LDL-C, 211.57 ± 42.02 mg/dl; p = 0.227) but significantly different than heterozygous LDLR carriers (LDL-C, 198.75 ± 14.98 mg/dl vs. LDL-C, 230.63 ± 76.50 mg/dl; p = 0.012) when comparing the relatives’ phenotype in our cohort.
    2015-11-10Journal article Restricted access Show more
  • Beach sand and the potential for infectious disease transmission: observations and recommendations
    Publication . Solo-Gabriele, Helena; Harwood, Valerie J.; Kay, David; Fujioka, Roger; Sadowsky, Michael; Whitman, Richard; Wither, Andrew; Caniça, Manuela; Carvalho da Fonseca, Rita; Duarte, Aida; Edge, Thomas; Gargaté, Maria João; Gunde-cimerman, Nina; Hagen, Ferry; Mclellan, Sandra; Silva, Alexandra; Novak Babič, Monika; Prada, Susana; Rodrigues, Raquel; Romão, Daniela; Sabino, Raquel; Samson, Robert; Segal, Esther; Staley, Christopher; Taylor, Huw D.; Veríssimo, Cristina; Viegas, Carla; Barroso, Helena; Brandão, João
    Recent studies suggest that sand can serve as a vehicle for exposure of humans to pathogens at beach sites, resulting in increased health risks. Sampling for microorganisms in sand should be considered for inclusion in regulatory programmes aimed at protecting recreational beach users from infectious disease. In an effort to provide recommendations for sand sampling programmes in the original article, we outlined published guidelines for beach monitoring programmes, currently focused exclusively on measuring microbial levels in water. We also provided background on spatial distribution and temporal characteristics of microbes in sand, as these factors influence sampling programmes. First steps toward establishing a sand sampling programme include identifying appropriate beach sites and use of initial sanitary assessments to refine site selection. A tiered approach is recommended for monitoring. This approach would include the analysis of samples from many sites for faecal indicator organisms and other conventional analytes, while testing for specific pathogens and unconventional indicators is reserved for high-risk sites. Given the diversity of microbes found in sand, studies are urgently needed to identify the most significant aetiological agent of disease and to relate microbial measurements in sand.
    2015-11-10Conference object Open access Show more