Investigation of Mosaicism Detected in STR Typing

Short tandem repeats (STRs) are the most popular markers for human identification in forensics. These markers can be easily analyzed through a multiplex polymerase chain reaction and electrophoresis and provide high discrimination power. However, in STR analysis, several atypical phenomena can be observed such as allelic dropouts, drop-ins, or imbalance, which may be due to DNA polymerase slippage or DNA degradation effects. The observed atypical STR profiles can also provide information for mixed DNA samples or chromosomal abnormalities. In this study, we report a case of mosaicism detected in routine casework of paternity testing. Hair samples from a phenotypically normal male were tested, and the result presented a typical STR profile of a female for the amelogenin gene (XX). Through chromosome analysis using peripheral blood, it was found that 45,X/46,XY mosaicism resulted in the discrepancy between the genotype and the phenotype. In addition, the amount of Y chromosome detected was particularly low in hair compared to that in blood. This study shows that mosaicism can make interpretation difficult during STR analysis and suggests that sample types and repeated analysis should be considered even for routine STR testing.

Respiratory and diarrhoeal pathogens in Malawian children hospitalized with diarrhoea and association with short-term growth

Background: Pneumonia and diarrhoea are the leading causes of childhood mortality and morbidity worldwide. Recurrence of these common infections are one of the immediate causes of malnutrition, which puts children at risk of further infection. While studies have focused on how gut microbiota is broadly protective against respiratory infection, there has been less attention paid to the reverse relationship, of respiratory microbiota and pathogens influencing the gut, and subsequent association with growth. Methods: In this sub-study of a prospective cohort study, 27 children (2-24 months) who tested positive for Cryptosporidium were followed up over 8 weeks. Respiratory and stool pathogens were detected using quantitative molecular methods. Nutritional outcomes were assessed as length-for-age (LAZ), weight-for-length (WLZ) and weight-for-age (WAZ) z-scores. Changes over the study period were compared using repeated analysis of variance and mixed effects model analysis. Results: In this period,104 sputum and stool samples were collected. All stool samples had at least one pathogen detected, with an average of 5.1 (SD 2.1) stool pathogens, compared to 84% of the sputum samples with an average 3.5 (SD1.8). Diarrhoeagenic E. coli were the most common stool pathogens (92%), followed by Cryptosporidium (52%) and Campylobacter pan (39%). In sputum, S. pneumoniae was most prevalent (84%), seconded by Rhinovirus (56%) and M. catarrhalis (50%). There was a significant change in WAZ over the follow-up period. Children who had ≥3 GI pathogens had significantly a lower LAZ mean score at enrollment (-1.8 (SD 1.4)) and across the follow-up period. No relationship between respiratory pathogens and short-term growth was observed. Out of 49 sputum samples that had ≥3 pathogens, 42 (85%) simultaneously had ≥3 GI pathogens. Conclusion: Among young children hospitalized with diarrhoea, multiple gut and respiratory pathogens were prevalent over an 8-week follow-up period. The presence of more GI, but not respiratory, pathogens was significantly associated with reduced short-term growth.

Latviešu valodas apguvēju korpusa (LaVA) izmantošana pētniecībā un mācību uzdevumu izstrādē

The Latvian Language Learners Corpus (LaVA) developed at the Institute of Mathematics and Computer Science, University of Latvia, includes more than 1000 texts created by foreign Latvian language learners studying at Latvian higher education institutions for the first or second semester reaching A1 (possibly A2) Latvian language proficiency level. The size of the corpus is more than 180 000 words. The morphologically annotated texts have been checked manually; the language learners' errors have been manually annotated. In addition, each text is accompanied by information about the author of the text (metadata): gender, age, native language, knowledge of other languages. When analysing the data, this information can be used to determine how the learner's mother tongue and language skills, in general, affect the acquisition of the Latvian language. Users of the corpus can analyse the data both on the LaVA website (see http://lava.korpuss.lv/search) and in the SketchEngine tool, where the quantitative and qualitative analysis of the data can be performed. The quantitative approach makes it possible to find out the tendencies of the use of a word, word form, or construction and allows to determine the frequency of mistakes made by language learners. In addition, the objectivity of the research is ensured by looking at the data of language learners from different aspects and performing repeated analysis. For example, by statistically analysing the nouns used in learners' texts, it can be concluded that declension 4 nouns are most often used. The next in terms of frequency of use are declension 1, 5 and 2 nouns, while declension 3 and 6 nouns and indeclinable nouns are used very rarely. Qualitative analysis reveals certain features of morphology and word formation, including aspects of syntax, based on empirical data. It is possible to qualitatively analyse the erroneous use of nouns, verbs, or other parts of speech, trying to understand what rules determine this. For example, consider using non-reflexive verbs instead of reflexive verbs, using infinitives instead of finite forms (person forms), using a suffix that does not fit the noun paradigm, etc. According to LaVA data analysis, including learners error analysis, exercises and tests are generated. The exercises are intended to help the language learner to strengthen the linguistic competence of the Latvian language, for example, the use of verb forms in the indicative mood, both in indefinite and perfect tense forms. Exercise creation consists of three stages: (1) analysis of LaVA errors and identification of typical errors, (2) Collecting of sample sentences from various corpora of the Latvian language, for example, LVK2018, Saeima, with word forms and constructions in which language learners most often make mistakes in LaVA texts, (3) generation of different exercises using the selected sample sentences.

EP.TU.371The introduction of standardised ward round notes in the Acute Surgical Unit

Introduction A standardised approach to note-keeping has been shown to improve patient care and experience. Aims This repeated audit cycle assesses the compliance with the introduction of a standardised proforma. Method Data collection was prospective. Round 1 (n = 83) after introduction of a ward round proforma, Round 2 (n = 94) following result analysis / education, Round 3 (n = 62) following proforma changes. Results (% Compliance with proforma) Conclusions Some improvements were seen in Round 2. A notable improvement was observed in EDD and CFD when a tick box option was implemented in Round 3. Successful implementation of a standardised note-keeping requires repeated analysis, education and modification of the proforma.

Mental heartbeat tracking and rating of emotional pictures are not related

Our aim was to conceptually replicate the findings of previous empirical studies showing that people with higher cardiac interoceptive accuracy experience more intense emotions. Apart of the mental heartbeat tracking task of Schandry, Hungarian (n = 46, 76.0% female, mean age 22.28 ± 2.228) and Norwegian (n = 50, 60.0% female, mean age 24.66 ± 3.048) participants rated the arousal and valence evoked by positive, neutral and negative pictures. Multivariate repeated analysis of variance (applying both frequentist and Bayesian approaches) did not reveal any connection between heartbeat perception scores and the subjective ratings (i.e., arousal and valence) of the pictures in any of the two groups. The lack of the expected association between cardioceptive accuracy and arousal might partly be explained by the methodological differences between previous studies and this one; for example, we did not split or preselected the sample based on the performance on the Schandry task and applied a relatively strict instruction (i.e., by encouraging to count felt heartbeats only, and to report zero if no sensations were detected).

Lactose Residual Content in PDO Cheeses: Novel Inclusions for Consumers with Lactose Intolerance

Lactose intolerance (LI) is the symptomatic condition that characterizes subjects unable to digest lactose. The main solution consists of reducing or eliminating lactose from one’s diet, and so dairy products, particularly cheeses, are often the first foods excluded. The purpose of this study is to contribute to this topic by creating an updated list of naturally lactose-free (NLF) cheeses. Twenty-five PDO (Protected Designation of Origin) cheeses were selected and analyzed to determine their lactose content. At the same time, interviews with the PDO quality control consortia were carried out to understand which parameters are involved in lactose reduction, based on the cheeses’ product specifications. The analytical techniques used here for lactose determination are the most sensitive (HPAEC-PAD and LC/MS-MS), given their low limit of quantification (LOQ) of less than 10 mg/kg. The majority of selected PDO cheeses resulted in a lactose content less than the LOQ. Because of the high variability allowed in PDO cheeses’ operative conditions, it would be better to case-by-case examine the PDO cheese specification and declare the product as NLF after repeated analysis. The results of the chemical determination of this research allowed to draw up a very useful list of PDO cheeses for both consumers and nutritionists that could be identified as NLF.

New System for Measuring Cosmogenic Ne in Terrestrial and Extra-Terrestrial Rocks

Cosmogenic Ne isotopes are used for constraining the timing and rate of cosmological and Earth surface processes. We combined an automated gas extraction (laser) and purification system with a Thermo Fisher ARGUS VI mass spectrometer for high through-put, high precision Ne isotope analysis. For extra-terrestrial material with high cosmogenic Ne concentrations, we used multi-collection on Faraday detectors. Multiple measurements (n = 26) of 1.67 × 10−8 cm3 air-derived 20Ne yielded an uncertainty of 0.32%, and 21Ne/20Ne = 0.17% and 22Ne/20Ne = 0.09%. We reproduced the isotope composition of cosmogenic Ne in the Bruderheim chondrite and Imilac pallasite in a sub-ten mg sample. For lower Ne amounts that are typical of terrestrial samples, an electron multiplier detector was used in peak jumping mode. Repeated analysis of 3.2 × 10−11 cm3 STP 20Ne from air reproduced 21Ne/20Ne and 22Ne/20Ne with 1.1% and 0.58%, respectively, and 20Ne intensity with 1.7% (n = 103) over a 4-month period. Multiple (n = 8) analysis of cosmogenic Ne in CREU-1 quartz yielded 3.25 ± 0.24 × 108 atoms/g (2 s), which overlaps with the global mean value. The repeatability is comparable to the best data reported in the international experiments performed so far on samples that are 2–5× smaller. The ability to make precise Ne isotope determinations in terrestrial and extra-terrestrial samples that are significantly smaller than previously analysed suggests that the new system holds great promise for studies with limited material.

THE EFFECTS OF DYNAMIC NEUROMUSCULAR STABILITY EXERCISE ON THE SCOLIOSIS AND PAIN CONTROL IN THE YOUTH BASEBALL PLAYERS

While the presence of dynamic neuromuscular stabilization (DNS) has been provided as an important component of the integrated spinal stabilization and associated abdominal stabilization prior to dynamic movement, no previous study has investigated the spinal mechanical effects scoliosis and pain control in youth baseball player with scoliosis. This study compared the effects of gymball exercise, with and without DNS core stability exercise, on spine kinematics and pain control in youth baseball player with scoliosis. A total of 28 participants with scoliosis were randomized into gymball exercise, with and without DNS core stability exercise. Clinical outcomes included the Cobb’s angle and visual analog scale (VAS). Two-way repeated analysis of variance (ANOVA) was conducted at [Formula: see text]. Two-way repeated ANOVA showed that gymball with DNS showed superior effects, compared to gymball without DNS, on Cobb’s angle ([Formula: see text]), but not on VAS ([Formula: see text]). Our results provide novel, promising clinical evidence that DNS improved scoliosis kinematics as well as pain control in youth baseball player with scoliosis.

Comparative genome analysis revealed gene inversions, boundary expansions and contractions, and gene loss in the Stemona sessilifolia (Miq.) Miq. chloroplast genome

Stemona sessilifolia (Miq.) Miq., commonly known as Baibu, is one of the most popular herbal medicines in Asia. In the Chinese Pharmacopoeia, Baibu has multiple authentic sources and there are many similar herbs sold as Baibu in herbal medicine markets. The existence of counterfeits of Baibu brings challenges to its identification. To assist in its accurate identification, we sequenced and analyzed the complete chloroplast genome of S. sessilifolia using next-generation sequencing technology. The genome was found to be 154,037 bp in length, possessing a typical quadripartite structure consisting of a pair of inverted repeats (IRs: 27,090 bp) separated by a large single copy (LSC: 81,949 bp) and a small single copy (SSC: 17,908 bp). A total of 112 unique genes were identified, including 80 protein-coding, 28 transfer RNA and four ribosomal RNA genes. In addition, 45 tandem, 27 forward, 23 palindromic and 104 simple sequence repeats were detected in the genome by repeated analysis. Compared with its counterfeits (Asparagus officinalis and Carludovica palmata) we found that IR expansion and SSC contraction events of S. sessilifolia resulted in two copies of the rpl22 gene in the IR regions and a partial duplication of the ndhF gene in the SSC region. An approximately 3-kb-long inversion was also identified in the LSC region, leading to the petA and cemA genes being presented in the complementary strand of the chloroplast DNA molecule. Comparative analysis revealed some highly variable regions, including trnF-GAA_ndhJ, atpB_rbcL, rps15_ycf1, trnG-UCC_trnR-UCU, ndhF_rpl32, accD_psaI, rps2_rpoC2, trnS-GCU_trnG-UCC, trnT-UGU_trnL-UAA and rps16_trnQ-UUG. Finally, gene loss events were investigated in the context of phylogenetic relationships. In summary, the complete plastome of S. sessilifolia will provide valuable information for the distinction between Baibu and its counterfeits and assist in elucidating the evolution of S. sessilifolia.