Identification and reproducibility of diagnostic DNA markers for tuber starch and yield optimization in a novel association mapping population of potato (Solanum tuberosum L.)

KEY MESSAGE: SNPs in candidate genesPain-1,InvCD141(invertases),SSIV(starch synthase),StCDF1(transcription factor),LapN(leucine aminopeptidase), and cytoplasm type are associated with potato tuber yield, starch content and/or starch yield. ABSTRACT: Tuber yield (TY), starch content (TSC), and starch yield (TSY) are complex characters of high importance for the potato crop in general and for industrial starch production in particular. DNA markers associated with superior alleles of genes that control the natural variation of TY, TSC, and TSY could increase precision and speed of breeding new cultivars optimized for potato starch production. Diagnostic DNA markers are identified by association mapping in populations of tetraploid potato varieties and advanced breeding clones. A novel association mapping population of 282 genotypes including varieties, breeding clones and Andean landraces was assembled and field evaluated in Northern Spain for TY, TSC, TSY, tuber number (TN) and tuber weight (TW). The landraces had lower mean values of TY, TW, TN, and TSY. The population was genotyped for 183 microsatellite alleles, 221 single nucleotide polymorphisms (SNPs) in fourteen candidate genes and eight known diagnostic markers for TSC and TSY. Association test statistics including kinship and population structure reproduced five known marker–trait associations of candidate genes and discovered new ones, particularly for tuber yield and starch yield. The inclusion of landraces increased the number of detected marker–trait associations. Integration of the present association mapping results with previous QTL linkage mapping studies for TY, TSC, TSY, TW, TN, and tuberization revealed some hot spots of QTL for these traits in the potato genome. The genomic positions of markers linked or associated with QTL for complex tuber traits suggest high multiplicity and genome wide distribution of the underlying genes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00122-016-2665-7) contains supplementary material, which is available to authorized users

Anatomic mapping of the collateral branches of the external carotid artery with regard to daily clinical practice

Background: To identify the anatomical variations of the main branches of the external carotid artery (lingual, facial, occipital, ascending pharyngeal and sternocleidomastoid), giving information about the calibers and origins with the aim of creating a new classification useful in clinical practice. Material and methods: 193 human embalmed body-donors were dissected. The data collected were analyzed using the Chi² test. The results of previous studies were reviewed. Results: The majority of the anterior arterial branches (superior thyroid, facial and lingual artery) were observed with an independent origin, respectively, classified as pattern I (80.83%, 156/193). In 17.62% (34/193) a linguofacial trunk, pattern II, has been observed, only in 1,04% (2/193) a thyrolingual trunk, pattern III, has been found and in one case (1/193, 0.52%) one thyrolinguofacial trunk, pattern IV, was found. Depending on the posterior branches (occipital and ascending pharyngeal), four different types could be determined: type a, the posterior arteries originated independently, type b, the posterior arteries originated in a common trunk, type c, the ascending pharyngeal artery was absent, type d, the occipital artery was absent. Conclusion: Anatomical variations in these arteries are relevant in daily clinical practice due to growing applications, e.g., in Interventional Radiology techniques. Knowledge of these anatomical references could help clinicians in the interpretation of the carotid system

Quality of life measurement in alopecia areata. Position statement of the European Academy of Dermatology and Venereology Task Force on Quality of Life and Patient Oriented Outcomes

New treatment options may lead to an increased interest in using reliable and sensitive instruments to assess health-related quality of life in people with alopecia areata (AA). The purpose of this paper is to present current knowledge about quality of life assessment in AA. The dermatology-specific Dermatology Life Quality Index (DLQI) was the most widely reported health-related quality of life instrument used in AA. Three AA-specific (Alopecia Areata Symptom Impact Scale, Alopecia Areata Quality of Life Index and Alopecia Areata Patients'' Quality of Life) and three hair disease-specific instruments (Hairdex, Scalpdex and ‘hair-specific Skindex-29’) were identified with a range of content and validation characteristics: there is little evidence yet of the actual use of these measures in AA. Scalpdex is the best-validated hair disease-specific instrument. Further extensive validation is needed for all of the AA-specific instruments. The European Academy of Dermatology and Venereology Task Force on Quality of Life and Patient Oriented Outcomes recommends the use of the dermatology-specific DLQI questionnaire, hair disease-specific Scalpdex and the alopecia areata-specific instruments the Alopecia Areata Symptom Impact Scale or Alopecia Areata Quality of Life Index, despite the limited experience of their use. We hope that new treatment methods will be able to improve both clinical signs and health-related quality of life in patients with AA. In order to assess the outcomes of trials on these new treatment methods, it would be helpful when further development and validation of AA-specific instruments is being encouraged and also conducted. © 2021 European Academy of Dermatology and Venereology

A Highly Porous Metal-Organic Framework System to Deliver Payloads for Gene Knockdown

© 2019 Elsevier Inc. Gene knockdown is an advantageous therapeutic strategy to lower dangerous genetic over-expression. However, the molecules responsible for initiating this process are unstable. Porous nanoparticles called metal-organic frameworks can encapsulate, protect, and deliver these compounds efficaciously without the need for chemical modifications—commonly done to enhance stability. By applying this platform technology, this work demonstrates the successful reduction in expression of a gene by avoiding retention and subsequent degradation in cellular compartments.This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (NanoMOFdeli), ERC-2016-COG 726380, and (SUPUVIR) no. 722380. M.H.T. thanks the Gates Cambridge Trust for funding, S. Haddad for helpful discussions, and A. Li for assistance with data visualization. D.F.-J. thanks the Royal Society for funding through a University Research Fellowship. S.B.d.Q.F., F.M.R., and D.I.J. were funded by Cancer Research UK Senior Group Leader Grant CRUK/A15678. O.K.F. gratefully acknowledges DTRA for financial support (grant HDTRA-1-14-1-0014). C.F.K. acknowledges funding from the UK Engineering and Physical Sciences Research Council (grants EP/L015889/1 and EP/H018301/1), the Wellcome Trust (grants 3-3249/Z/16/Z and 089703/Z/09/Z) and the UK Medical Research Council (grants MR/K015850/1 and MR/K02292X/1), and Infinitus (China) Ltd. Computational work was supported by the Cambridge High Performance Computing Cluster, Darwin

The self-assessed psychological comorbidities of prurigo in Europe: data from the ESDAP study

PS16 Prurigo is defined by the presence of chronic pruritus and multiple localized or generalized pruriginous lesions. The aim of this study was to assess the psychological burden of prurigo in patients of European countries. In this multicentre European study, 3, 635 general dermatology outpatients and 1, 359 controls were included. Socio-demographic data and answers to questionnaires (regarding quality of life, general health, anxiety and depression and suicidal ideation) were collected.There were 27 patients with prurigo; of these, 63% were men, and the mean age was 58.6 years. Among patients with prurigo, 10 of 27 (37%) suffered from anxiety and 8 of 27 (29%) from depression. Suicidal ideation was reported in 5 of 27 (19%) patients, and for 4 of these 5 patients, suicidal ideation was related to their skin disease. These frequencies were higher in the 10 commonest dermatological diseases (including psoriasis, atopic dermatitis and leg ulcers). The impact on quality of life was severe, with a mean Dermatologic Life Quality Index (DLQI) of 12.4, with an extreme impact on quality of life for 23% of patients and a very large impact for 27% of patients.The psychological comorbidities of prurigo are common, greater than those of other skin diseases, and their impact on quality of life is significant. Thus, it is important to study this condition and to find new treatments