NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis

Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis. The aim of the study was to reveal genetic factors responsible for thyroid maldevelopment in two siblings with THA. None of the family members presented with congenital heart defect. The samples were subjected to whole-exome sequencing (WES) (Illumina, TruSeq Exome Enrichment Kit, San Diego, CA 92121, USA). An ultra-rare variant c.839C>T (p.Pro280Leu) in NKX2-5 gene ({"type":"entrez-nucleotide","attrs":{"text":"NM_004387.4","term_id":"1519243386","term_text":"NM_004387.4"}}NM_004387.4) was identified in both affected children and an unaffected father. In the mother, the variant was not present. This variant is reported in population databases with 0.0000655 MAF (GnomAD v3, dbSNP rs761596254). The affected amino acid position is moderately conserved (positive scores in PhyloP: 1.364 and phastCons: 0.398). Functional prediction algorithms showed deleterious impact (dbNSFP v4.1, FATHMM, SIFT) or benign (CADD, PolyPhen-2, Mutation Assessor). According to ACMG criteria, variant is classified as having uncertain clinical significance. For the first time, NKX2-5 gene variants were found in two siblings with THA, providing evidence for its potential contribution to the pathogenesis of this type of thyroid dysgenesis. The presence of the variant in an unaffected parent, carrier of p.Pro280Leu variant, suggests potential contribution of yet unidentified additional factors determining the final penetrance and expression.     

Physicochemical and sensory properties of kefir containing inulin and oligofructose

This study concerns the physicochemical and sensory analysis of stirred kefirs made at a laboratory scale, in which one‐third of the skim milk powder (SMP) was replaced by different inulins (long chain, native and oligofructose). The reference kefirs contained 12 g/100 g of SMP or whole milk powder. Rheological analysis showed that the kefirs were viscoelastic materials with thixotropic and shear‐thinning behaviour. Rheological data showed that SMP can be successfully substituted by long‐chain inulin; however, sensory evaluation indicated that substitution of SMP by any other kinds of inulin significantly decreased the consistency of kefirs while not affecting their flavour and odour.     

The Benefits of Using Saccharose for Photocatalytic Water Disinfection

In this work, the characteristics of saccharose (sucrose)-modified TiO₂ (C/TiO₂) photocatalysts obtained using a hydrothermal method at low temperature (100 °C) are presented. The influence of C/TiO₂ on survivability and enzyme activity (catalase and superoxide dismutase) of Gram-negative bacteria Escherichia coli (ATCC 29425) and Gram-positive bacteria Staphylococcus epidermidis (ATCC 49461) under UV-A and artificial solar light (ASL) were examined. The obtained TiO₂-1%-S-100 photocatalysts were capable of total E. coli and S. epidermidis inactivation under ASL irradiation in less than 1 h. In addition, the impacts of sugars on the photocatalytic activity and disinfection performance are discussed.     

Use of Methylmalonyl‐CoA Epimerase in Enhancing Crotonase Stereoselectivity

The use of methylmalonyl‐CoA epimerase (MCEE) to improve stereoselectivity in crotonase‐mediated biocatalysis is exemplified by the coupling of MCEE, crotonyl‐CoA carboxylase reductase and carboxymethylproline synthase in a three‐enzyme one‐pot sequential synthesis of functionalised C‐5 carboxyalkylprolines starting from crotonyl‐CoA and carbon dioxide.     

Characterisation of antioxidant compounds in sweet bell pepper (Capsicum annuum L.) under organic and conventional growing systems

BACKGROUND: Sweet red bell pepper is one of the best sources of ascorbic acid and carotenoids as well as phenolic compounds important in the human diet. There have been some studies showing a higher level of bioactive compounds in organic bell pepper fruits compared with conventional fruits, but not all studies have been consistent in this respect. The levels of carotenoids and phenolics are very variable and may be affected by ripeness, genotype and cultivation. RESULTS: The results obtained in this study showed that an organic growing system affected the level of bioactive compounds (carotenoids and polyphenols) in sweet bell pepper fruits cultivated in Poland. Organic bell pepper fruits contained significantly more dry matter, vitamin C, total carotenoids, β‐carotene, α‐carotene, cis‐β‐carotene, total phenolic acids (as well as individual gallic and chlorogenic acids) and flavonoids (quercetin D ‐glucoside, quercetin and kaempferol) compared with conventional fruits. The bell pepper variety also affected the level of antioxidant compounds in fruits. CONCLUSION: Organic growing increased the level of antioxidant compounds such as carotenoids, phenolic compounds and vitamin C in sweet bell pepper. The second significant factor affecting the antioxidant compound content of sweet bell pepper was variety. It would be necessary to continue this study as a long‐term experiment in order to eliminate the influence of seasonality. Copyright © 2012 Society of Chemical Industry