141 research outputs found

    MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

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    Background: Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mutation type, cancer risk and age of diagnosis in MSH6 and PMS2 families. Methods: A total of 78 participants (from 29 families) with a mutation in MSH6 and 7 participants (from 6 families) with a mutation in PMS2 were included in the current study. A database of de-identified patient information was analysed to extract all relevant information such as mutation type, cancer incidence, age of diagnosis and cancer type in this Lynch syndrome cohort. Cumulative lifetime risk was calculated utilising Kaplan-Meier survival analysis. Results: MSH6 and PMS2 mutations represent 10.3% and 1.9%, respectively, of the pathogenic mutations in our Australian Lynch syndrome families. We identified 26 different MSH6 and 4 different PMS2 mutations in the 35 families studied. We report 15 novel MSH6 and 1 novel PMS2 mutations. The estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females) and 65% for endometrial cancer in MSH6 mutation carriers. The risk of developing CRC is different between males and females at age 50 years, which is 34% for males and 21% for females. Conclusion: Novel MSH6 and PMS2 mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations. Our data provides additional information to add to the genotype-phenotype spectrum for both MSH6 and PMS2 mutations

    Characterization techniques for studying the properties of nanocarriers for systemic delivery

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    Nanocarriers have attracted a huge interest in the last decade as efficient drug delivery systems and diagnostic tools. They enable effective, targeted, controlled delivery of therapeutic molecules while lowering the side effects caused during the treatment. The physicochemical properties of nanoparticles determine their in vivo pharmacokinetics, biodistribution and tolerability. The most analyzed among these physicochemical properties are shape, size, surface charge and porosity and several techniques have been used to characterize these specific properties. These different techniques assess the particles under varying conditions, such as physical state, solvents etc. and as such probe, in addition to the particles themselves, artifacts due to sample preparation or environment during measurement. Here, we discuss the different methods to precisely evaluate these properties, including their advantages or disadvantages. In several cases, there are physical properties that can be evaluated by more than one technique. Different strengths and limitations of each technique complicate the choice of the most suitable method, while often a combinatorial characterization approach is needed

    Pharmaceutical Particle Engineering via Spray Drying

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    Saint Clement's Island, Coltons Point, Maryland, circa 1941-1950

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    Saint Clement's Island, Maryland, circa 1941-1950. Caption reads: "St. Clement's Island. An impressive 40-foot cross marks the landing of the 'Ark' and the 'Dove of Maryland' on March 25, 1634, when Leonard Calvert and his settlers took solemn possession of Maryland." Postcard number: 49257

    Production of a Lectin in Tissue Cultures of Dolichos biflorus

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    Use of Morphology and CO1 Barcoding to Test the Validity ofTetraopes huetheriSkillman (Coleoptera: Cerambycidae)

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    Etzler, Frank E., Huether, Jeffery, Johnson, Paul J., Skillman, Frederick W., Ivie, Michael A. (2013): Use of Morphology and CO1 Barcoding to Test the Validity ofTetraopes huetheriSkillman (Coleoptera: Cerambycidae). The Coleopterists Bulletin 67 (1): 45-49, DOI: 10.1649/072.067.0110, URL: http://dx.doi.org/10.1649/072.067.011

    Fig. 1 in Use of Morphology and CO1 Barcoding to Test the Validity ofTetraopes huetheriSkillman (Coleoptera: Cerambycidae)

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    Fig. 1. Protarsus of Tetraopes huetheri, paratype.Published as part of <i>Etzler, Frank E., Huether, Jeffery, Johnson, Paul J., Skillman, Frederick W. & Ivie, Michael A., 2013, Use of Morphology and CO1 Barcoding to Test the Validity ofTetraopes huetheriSkillman (Coleoptera: Cerambycidae), pp. 45-49 in The Coleopterists Bulletin 67 (1)</i> on page 47, DOI: 10.1649/072.067.0110, <a href="http://zenodo.org/record/10110560">http://zenodo.org/record/10110560</a&gt
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