Urine Organic Acids as Potential Biomarkers for Autism-Spectrum Disorder in Chinese Children

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that lacks clear biological biomarkers. Existing diagnostic methods focus on behavioral and performance characteristics, which complicates the diagnosis of patients younger than 3 years-old. The purpose of this study is to characterize metabolic features of ASD that could be used to identify potential biomarkers for diagnosis and exploration of ASD etiology. We used gas chromatography-mass spectrometry (GC/MS) to evaluate major metabolic fluctuations in 76 organic acids present in urine from 156 children with ASD and from 64 non-autistic children. Three algorithms, Partial Least Squares-Discriminant Analysis (PLS-DA), Support Vector Machine (SVM), and eXtreme Gradient Boosting (XGBoost), were used to develop models to distinguish ASD from typically developing (TD) children and to detect potential biomarkers. In an independent testing set, full model of XGBoost with all 76 acids achieved an AUR of 0.94, while reduced model with top 20 acids discovered by voting from these three algorithms achieved 0.93 and represent a good collection of potential ASD biomarkers. In summary, urine organic acids detection with GC/MS combined with XGBoost algorithm could represent a novel and accurate strategy for diagnosis of autism and the discovered potential biomarkers could be valuable for future research on the pathogenesis of autism and possible interventions

Magnetic resonance imaging and mammographic appearance of dermatofibrosarcoma protuberans in a male breast: a case report and literature review

<p>Abstract</p> <p>Introduction</p> <p>Dermatofibrosarcoma protuberans is a rare low-grade soft tissue neoplasm with trunk and extremities being the most common sites of involvement. We report a rare case of male breast with dermatofibrosarcoma protuberans and its imaging features. To our knowledge the imaging appearance of dermatofibrosarcoma protuberans of the breast has never been reported in the literature.</p> <p>Case presentation</p> <p>We report the imaging appearance of dermatofibrosarcoma protuberans on the breast of a 41-year-old Chinese man who initially presented with a palpable lump. A mammogram showed two lesions, one with well circumscribed and the other with an ill defined border, in his right breast. Conventional magnetic resonance imaging was performed and showed the well defined larger lesion with mild central hypointensity while the smaller lesion had an irregular border. Both lesions were well characterized on the fat-suppressed sequences.</p> <p>Conclusions</p> <p>Dermatofibrosarcoma protuberans is a rare soft tissue sarcoma and its occurrence on the breast is even rarer. Mammography and magnetic resonance imaging can help in characterizing the lesion and localizing the lesion for further diagnostic evaluation and surgical planning.</p

The γ-gliadin multigene family in common wheat (Triticum aestivum) and its closely related species

<p>Abstract</p> <p>Background</p> <p>The unique properties of wheat flour primarily depend on gluten, which is the most important source of protein for human being. γ-Gliadins have been considered to be the most ancient of the wheat gluten family. The complex family structure of γ-gliadins complicates the determination of their function. Moreover, γ-gliadins contain several sets of celiac disease epitopes. However, no systematic research has been conducted yet.</p> <p>Results</p> <p>A total of 170 γ-gliadin genes were isolated from common wheat and its closely related species, among which 138 sequences are putatively functional. The ORF lengths of these sequences range from 678 to 1089 bp, and the repetitive region is mainly responsible for the size heterogeneity of γ-gliadins. The repeat motif <b>P</b>(Q/L/S/T/I/V/R/A)<b>F</b>(S/Y/V/Q/I/C/L)<b>P</b>(R/L/S/T/H/C/Y)<b>Q</b>_1–2<b>(P</b>(S/L/T/A/F/H)<b>QQ)</b>_1–2is repeated from 7 to 22 times. Sequence polymorphism and linkage disequilibrium analyses show that γ-gliadins are highly diverse. Phylogenic analyses indicate that there is no obvious discrimination between <it>Sitopsis </it>and <it>Ae. tauschii </it>at the <it>Gli-1 </it>loci, compared with diploid wheat. According to the number and placement of cysteine residues, we defined nine cysteine patterns and 17 subgroups. Alternatively, we classified γ-gliadins into two types based on the length of repetitive domain. Amino acid composition analyses indicate that there is a wide range of essential amino acids in γ-gliadins, and those γ-gliadins from subgroup SG-10 and SG-12 and γ-gliadins with a short repetitive domain are more nutritional. A screening of toxic epitopes shows that γ-gliadins with a pattern of C9 and γ-gliadins with a short repetitive domain almost lack any epitopes.</p> <p>Conclusion</p> <p>γ-Gliadin sequences in wheat and closely related <it>Aegilops </it>species are diverse. Each group/subgroup contributes differently to nutritional quality and epitope content. It is suggested that the genes with a short repetitive domain are more nutritional and valuable. Therefore, it is possible to breed wheat varieties, the γ-gliadins of which are less, even non-toxic and more nutritional.</p