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  • Ipsen Crabtree posted an update 2 weeks, 3 days ago

    After correction for Muscular Impairment Rating Scale progression, cytosine thymine-guanine expansion, and follow-up duration, a higher prevalence of CCAs was independently associated with male gender (p=0.039), but independent association with gender was not detected for CCRAs overall, cardiac rhythm abnormalities, and SCD prevalence, even if prevalence was higher in males than females.

    The overall risk of occurrence of CCAs in DM1 is significantly higher in males than females regardless of genetic background and disease severity and progression. Moreover, the data also suggest a similar impact for male gender for CCRAs overall, CCAs, and SCD even if not statistically significant.

    The overall risk of occurrence of CCAs in DM1 is significantly higher in males than females regardless of genetic background and disease severity and progression. Moreover, the data also suggest a similar impact for male gender for CCRAs overall, CCAs, and SCD even if not statistically significant.Brassica rapa displays a wide range of morphological diversity which is exploited for a variety of food crops. Here we present a high-quality genome assembly for pak choi (Brassica rapa L. subsp. chinensis), an important non-heading leafy vegetable, and comparison with the genomes of heading type Chinese cabbage and the oilseed form, yellow sarson. Gene presence-absence variation (PAV) and genomic structural variations (SV) were identified, together with single nucleotide polymorphisms (SNPs). The structure and expression of genes for leaf morphology and flowering were compared between the three morphotypes revealing candidate genes for these traits in B. rapa. The pak choi genome assembly and its comparison with other B. rapa genome assemblies provides a valuable resource for the genetic improvement of this important vegetable crop and as a model to understand the diversity of morphological variation across Brassica species.The ABCD rule has long been proposed as a guidance for malignant melanoma (MM) diagnosis. We aimed to define a new simple, straightforward tool that could be useful in early melanoma detection and must be validated in further studies. We conducted a prospective historic cohort study of 200 melanocytic lesions classifying them according to the presence of geometric borders. Sixty-four percent of the MM and 31% of the melanocytic nevi presented with geometric borders. Lesions with two straight borders that formed a noncurvilinear angle presented a 2.1-fold higher risk of being malignant after excision. When comparing melanomas with geometric and nongeometric border, we found a tendency toward better prognostic markers in the geometric lesions. Lesions located in the extremities and melanoma subtype SSM were more common in the geometric group. Regarding pathologic features, a deeper Breslow (mean, 3.8 vs 1.4 mm), presence of ulceration (25% vs 5%) and a higher number of mitosis was found in the nongeometric group. On the other hand, more regression was found in the geometric group while both groups showed similar degree of lymphovascular infiltration. We propose geometric border as another clinical criterion to take into account when suspecting MM, which must be validated in further studies. The ABCDE rule could be completed with a G for geometry.The radiate pseudanthium, with actinomorphic disk flowers surrounded by showy marginal zygomorphic ray flowers, is the most common inflorescence in the Helianthus genus. In Helianthus radula, ray flower primordia are normally absent at the dorsal domain of the inner phyllaries (discoid heads) while the occurrence of radiate inflorescences is uncommon. In Helianthus spp., flower symmetry and inflorescence architecture are mainly controlled by CYCLOIDEA (CYC)-like genes but the putative role of these genes in the development of discoid inflorescences has not been investigate. Three CYC genes of H. radula with a role in ray flower identity (HrCYC2c, HrCYC2d, and HrCYC2e) were isolated. The phylogenetic analysis placed these genes within the CYC2 subclade. We identified two different alleles for the HrCYC2c gene. A mutant allele, designed HrCYC2c-m, shows a thymine to adenine transversion, which generates a TGA stop codon after a translation of 14 amino acids. We established homozygous dominant (HrCYC2c/HrCYC2c) and recessive (HrCYC2c-m/HrCYC2c-m) plants for this nonsense mutation. Inflorescences of both HrCYC2c/HrCYC2c and HrCYC2c/HrCYC2c-m plants initiated ray flowers, despite at low frequency. By contrast, plants homozygous for the mutant allele (HrCYC2c-m/HrCYC2c-m) failed at all to develop ray flowers. The results support, for the first time, a role of the HrCYC2c gene on the initiation of ray flower primordia. However, also in the two dominant phenotypes, discoid heads are the prevalent architecture suggesting that this gene is required but not sufficient to initiate ray flowers in pseudanthia. Other unknown major genes are most likely required in the shift from discoid to radiate inflorescence.

    In Australian adults, this study seeks to describe the experiences and factors associated with the perceived outcomes of using a very low calorie diet (VLCD) program for ≥4 weeks.

    A mixed method study using the method perspective was conducted to analyse individual semi-structured interviews conducted via videoconference and cross-sectional survey data. Australians 18 to 65 years were eligible if they were currently consuming at least one VLCD product daily for ≥4 weeks or had ceased consumption within 4 weeks. Interviews were thematically analysed.

    Weight loss (19 kg [SD 18 kg]) and duration (5 months [SD 5 months]) of VLCD product use of the 31 participants (female 97%, 44 [SD 11] years, body mass index >30 kg/m

    84%) were strongly correlated (r = 0.73, P < .001). Participants’ experiences were influenced by a journey of learning from their previous weight loss attempts, discerned the VLCD program as credible, and chose to commence the VLCD due to a convergence of internal motivators. Early health-related outcomes were a reinforcing stimulus and participants developed new health behaviours but felt dependent on the VLCD long term. Throughout these experiences the participants identified various individual, program structure, and environment related factors which either facilitated their VLCD program use or created barriers to achieving their goals. Health care professionals were minimally engaged.

    A model of care to support facilitators and overcome barriers would mean more meaningful engagement of health care professionals to ultimately improve the experience and adherence of the VLCD program users in Australia.

    A model of care to support facilitators and overcome barriers would mean more meaningful engagement of health care professionals to ultimately improve the experience and adherence of the VLCD program users in Australia.We examined the association between plasma metabolites and abnormal sleep patterns using data from the Southall and Brent REvisited (SABRE) cohort. Nuclear magnetic resonance spectroscopy provided 146 circulating plasma metabolites. Sleep questionnaires identified the presence or absence of difficulty falling asleep, early morning waking, waking up tired, and snoring. Metabolites were compared between the sleep quality categories using the t test, and then filtered using a false discovery rate of 0.05. Generalised linear models with logit-link assessed the associations between filtered metabolites and sleep phenotypes. Adjustment was made for important demographic and health-related covariates. In all, 2,718 participants were included in the analysis. After correcting for multiple testing, three metabolites remained for difficulty falling asleep, 59 for snoring, and none for early morning waking and waking up tired. After adjusting for sex, age, ethnicity and years of education, 1 standard deviation increase in serum histidine and valine associated with lower odds of difficulty falling asleep by 0.89-0.90 (95% confidence intervals [CIs] 0.80-0.99). Branched-chain and aromatic amino acids (odds ratios [ORs] 1.19-1.25, 95% CIs 1.09-1.36) were positively associated with snoring. Total cholesterol in low-density lipoprotein (OR 0.90, 95% CI 0.83-0.97) and high-density lipoprotein (OR 0.88, 95% CI 0.81-0.95) associated with lower odds of snoring. In the fully adjusted model, most associations persisted. To conclude, histidine and valine associated with lower odds of difficulty falling asleep, while docosahexaenoic acid and cholesterol in low-density lipoprotein and high-density lipoprotein subfractions associated with lower odds of snoring. Identified metabolites could provide guidance on the metabolic pathways associated with adverse sleep quality.The effect on secondary structure and antimicrobial activity of introducing different cyclic constraints in linear β-hairpin antimicrobial peptides has been investigated with the intention of generating cyclic β sheets as promising antimicrobials with improved therapeutic potential. The linear peptides were cyclized head to tail either directly or after the addition of either a second turn motif or a disulfide bridge. The propensity of these peptides to adopt a cyclic β-sheet structure has been correlated to their antibacterial activity. All cyclic peptides showed enhanced activity, compared with their linear counterparts against methicillin-resistant Staphylococcus aureus. Scanning electron microscopy and transmission electron microscopy studies showed that this family kills bacteria through membrane lysis. Metabolism inhibitor The peptide that showed the best efficacy against all strains (exhibiting nanomolar activity), while retaining low haemolysis, bears two symmetrical, homochiral d-phe-2-Abz-d-ala turns and adopted a flexible structure. Its twin peptide that bears heterochiral turns (one with d-ala and one with L-Ala) showed reduced antibacterial activity and higher percentage of haemolysis. Circular dichroism and nuclear magnetic resonance spectroscopy indicate that heterochirality in the two turns leads to oligomerization of the peptide at higher concentrations, stabilizing the β-sheet secondary structure. More rigid secondary structure is associated with lower activity against bacteria and loss of selectivity.

    This study examined factors associated with severity, incidence and/or persistence of internet gaming disorder (IGD) in children and adolescents.

    Prospective cohort study with 2-year follow-up study in South Korea. A total of 2319 3rd-, 4th- and 7th-graders enrolled into the internet user cohort for unbiased recognition of gaming disorder in early adolescence [internet user Cohort for Unbiased Recognition of gaming disorder in Early adolescence (iCURE)] and analyzed for the current study.

    Severity of the IGD features was assessed by the Internet Game Use-Elicited Symptom Screen (IGUESS), a self-reported questionnaire based on the DSM-5 IGD criteria. Participants with IGUESS scores ≥10 were considered to be at high risk for IGD (HIGD). Time spent playing on-line games, game types, depressive symptoms, trait anxiety, attention deficit hyperactivity disorder (ADHD) symptoms, social support, openness of communication with parents, attachment to parents and potential confounders were assessed by self-report.