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Specialized or secondary metabolites are small molecules of biological origin, often showing potent biological activities with applications in agriculture, engineering and medicine. Usually, the biosynthesis of these natural products is governed by sets of co-regulated and physically clustered genes known as biosynthetic gene clusters (BGCs). To share information about BGCs in a standardized and machine-readable way, the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard and repository was initiated in 2015. Since its conception, MIBiG has been regularly updated to expand data coverage and remain up to date with innovations in natural product research. Here, we describe MIBiG version 4.0, an extensive update to the data repository and the underlying data standard. In a massive community annotation effort, 267 contributors performed 8304 edits, creating 557 new entries and modifying 590 existing entries, resulting in a new total of 3059 curated entries in MIBiG. Particular attention was paid to ensuring high data quality, with automated data validation using a newly developed custom submission portal prototype, paired with a novel peer-reviewing model. MIBiG 4.0 also takes steps towards a rolling release model and a broader involvement of the scientific community. MIBiG 4.0 is accessible online at https://mibig.secondarymetabolites.org/., (© The Author(s) 2024. Published by Oxford University Press on behalf of Nucleic Acids Research.)

Tinea capitis is a dermatophytosis, which is more common in children. It is caused by dermatophytes that vary according to the region; the most frequently isolated dermatophyte in our setting is Microsporum canis. Given its anthropophilic nature, its dissemination via interpersonal transmission and through the use of hair care tools is very common. In the course of the past year, an increase has been reported in the incidence of a pathogen that was very rare in our setting: Trichophyton tonsurans. Here we describe a retrospective study of cases of tinea capitis caused by Trichophyton tonsurans identified between September 2021 and March 2023 in the Department of Pediatric Dermatology at a general hospital of the City of Buenos Aires., (Sociedad Argentina de Pediatría.)

Introduction: Newborn filiform periungual hyperkeratosis (NFPH) incidence and prevalence during the neonatal period remain unknown and have not been described in current literature. Timely diagnosis and treatment are essential to avoid complications during the neonatal period, such as acute paronychia., Objective: The aim of our prospective observational study was to describe the characteristics of NFPH in neonates born in a referral hospital in Buenos Aires., Results: One hundred patients were included. Most of them were male (60%). NFPH consists of hard, filiform elements, mostly present bilaterally in lateral nail folds. It was found in 46% of included patients. Prevalence was higher in the right hand. Due to a trend towards easy detachment and fracture, erosions were seen in several cases. Two cases of acute paronychia secondary to NFPH were diagnosed, with favorable outcomes after topical antibiotic treatment., Conclusion: The importance of clinical examination for screening of this local predisposing factor for infection in neonatal patients is highlighted., (© 2024 Wiley Periodicals LLC.)

Introduction and Aims: Colorectal cancer is the most frequent malignant tumor of the digestive system. Its pathogeny is complex and involves the APC/β-catenin sequence. Lymph node metastases are a significant indicator for determining treatment and are a prognostic factor. SOX9 overexpression is related to oncogenic qualities and the capacity for metastasis. Our aim was to analyze SOX9 immunoexpression in primary colorectal cancer and lymph node metastasis status., Material and Methods: Seventy-nine available cases were divided into the group with lymph node metastasis (n=38) and the group without lymph node metastasis (n=41), evaluating their SOX9 expression. The IBM SPSS version 27 program in Spanish was utilized to carry out the statistical analysis, obtaining measures of central tendency, the kappa index, standard deviation, Wilcoxon Mann-Whitney nonparametric measurements, Spearman's correlation coefficient, and chi-square test and Student's t test values. SOX9 immunoexpression was evaluated through the mean-based H-score, with high immunoexpression as a score ≥145 and low immunoexpression as a score ≤144., Results: A p=0.73 was obtained that was not statistically significant, regarding the relation of SOX9 expression in primary colorectal cancer to lymph node metastasis., Conclusions: The absence or presence of lymph node metastasis was independent from SOX9 immunoexpression in primary colorectal cancer. However, due to the limited size of the population analyzed, further research is needed., (Copyright © 2024 Asociación Mexicana de Gastroenterología. Published by Masson Doyma México S.A. All rights reserved.)

Objetives: Obtain a version to validate it in a population of adults with AD., Materials and Methods: 1) Translation into Spanish and cross-cultural adaptation of the questionnaire from the original version in English, through a seven-step process. 2) Evaluation of the unidimensionality of the resulting scale by means of an exploratory factor analysis (EFA), of its reliability by means of Cronbach's alpha coefficient, and of its validity by evaluating the correlation of its score with those of the POEM and DLQI questionnaires. (external reference criteria)., Results: The version resulting from the translation and cross-cultural adaptation process was well understood by the target population. The AFE of the 66 questionnaires documented the unidimensionality of the scale based on compliance with all the criteria used for its verification. Its reliability was excellent (Cronbach's Alpha: 0.917) and its score had a very high correlation with the external reference criteria (POEM: Spearman's Rho 0.85; p < 0.0001; DLQI Spearman's Rho = 0.81; p < 0 .0001)., Conclusions: The version translated into Spanish and adapted for transculturation of the ADCT questionnaire has appropriate psychometric characteristics, which will contribute to optimizing the care processes of Spanish-speaking patients., (UNIVERSIDAD NACIONAL DE CORDOBA)

The majority of bacteriophage diversity remains uncharacterized, and new intriguing mechanisms of their biology are being continually described. Members of some phage lineages, such as the Crassvirales , repurpose stop codons to encode an amino acid by using alternate genetic codes. Here, we investigated the prevalence of stop codon reassignment in phage genomes and its subsequent impacts on functional annotation. We predicted 76 genomes within INPHARED and 712 vOTUs from the Unified Human Gut Virome Catalogue (UHGV) that repurpose a stop codon to encode an amino acid. We re-annotated these sequences with modified versions of Pharokka and Prokka, called Pharokka-gv and Prokka-gv, to automatically predict stop codon reassignment prior to annotation. Both tools significantly improved the quality of annotations, with Pharokka-gv performing best. For sequences predicted to repurpose TAG to glutamine (translation table 15), Pharokka-gv increased the median gene length (median of per genome median) from 287 to 481 bp for UHGV sequences (67.8% increase) and from 318 to 550 bp for INPHARED sequences (72.9% increase). The re-annotation increased median coding capacity from 66.8% to 90.0% and from 69.0% to 89.8% for UHGV and INPHARED sequences predicted to use translation table 15. Furthermore, the proportion of genes that could be assigned functional annotation increased, including an increase in the number of major capsid proteins that could be identified. We propose that automatic prediction of stop codon reassignment before annotation is beneficial to downstream viral genomic and metagenomic analyses., Competing Interests: The authors declare no conflicts of interest., (© The Author(s) 2024. Published by Oxford University Press on behalf of the International Society for Microbial Ecology.)

Background: Idiopathic aseptic facial granuloma (IAFG) is an underrecognized pediatric skin disease, currently considered within the spectrum of rosacea. It usually manifests as a solitary, reddish, asymptomatic nodule on the cheek that resolves spontaneously., Methods: Retrospective and descriptive observational study of 43 pediatric patients with a clinical diagnosis of IAFG, followed between 2004 and 2022, at two general hospitals in Argentina., Results: IAFG predominated in girls (65%) and the average age of onset was about 6 years. A single asymptomatic nodule was seen in 79% of patients. The most common localization was the cheek (58%) followed by lower eyelids (41%). Family history of rosacea was present in 16% of patients. A concomitant diagnosis of rosacea and periorificial dermatitis was made in 14% and 9% of our population, respectively. Past or present history of chalazia was detected in 42% of the children. IAFG diagnosis was mainly clinical (88% of cases). Oral antibiotics were the most common indicated treatment (84%). Complete healing was achieved by the majority, but 18% of those with eyelid compromise healed with scars., Conclusions: IAFG is a benign pediatric condition that physicians should recognize in order to manage correctly. We herein refer to a particular morphologic aspect of IAFG lesions affecting the lower eyelids, where nodules adopt a linear distribution and have a higher probability of involute leaving a scar. Also, we consider that the concomitant findings of rosacea, periorificial dermatitis and chalazia in our patients, reinforce the consideration of IAFG within the spectrum of rosacea., (© 2024 Wiley Periodicals LLC.)

Introduction: in one third of patients with psoriasis, symptoms start during childhood and adolescence, with a strong emotional and psychosocial impact., Objective: to develop a guideline for the systemic treatment of psoriasis in pediatric patients by means of recommendations based on the best available evidence., Materials and Methods: Sources: articles indexed in PubMed, Epistemonikos, Google Scholar, Cochrane Library and Scielo, published between January 2010 and May 2022, in English, Spanish and Portuguese. Study selection: evidence-based clinical practice guidelines, systematic reviews, meta-analyses, randomized controlled studies, observational studies (case-control, cohort studies, real-life registries) and evaluations of biosimilar drugs in patients up to and including 17 years of age were considered. The keywords "psoriasis" and "treatment" were used in all three languages. Data extraction: the literature was evaluated using Grading of Recommendations Assessment, Development and Evaluation (GRADE) recommendations. Data synthesis: evidence tables were developed and analyzed by the expert committee. The questions for the development of recommendations were based on the PICO system (population, intervention, comparison, outcome)., Results: A total of 8 recommendations and 7 points of good practice were developed. The direction and strength of the recommendations were expressed according to the GRADE system., Conclusions: the final decision on a specific therapy should be based on the best opinion of the treating physician, the individual characteristics, and the values and preferences of the patients and their caregivers., (Universidad Nacional de Córdoba)

Summary: PyHMMER provides Python integration of the popular profile Hidden Markov Model software HMMER via Cython bindings. This allows the annotation of protein sequences with profile HMMs and building new ones directly with Python. PyHMMER increases flexibility of use, allowing creating queries directly from Python code, launching searches, and obtaining results without I/O, or accessing previously unavailable statistics like uncorrected P-values. A new parallelization model greatly improves performance when running multithreaded searches, while producing the exact same results as HMMER., Availability and Implementation: PyHMMER supports all modern Python versions (Python 3.6+) and similar platforms as HMMER (x86 or PowerPC UNIX systems). Pre-compiled packages are released via PyPI (https://pypi.org/project/pyhmmer/) and Bioconda (https://anaconda.org/bioconda/pyhmmer). The PyHMMER source code is available under the terms of the open-source MIT licence and hosted on GitHub (https://github.com/althonos/pyhmmer); its documentation is available on ReadTheDocs (https://pyhmmer.readthedocs.io)., (© The Author(s) 2023. Published by Oxford University Press.)

The interpretation of genomic, transcriptomic and other microbial 'omics data is highly dependent on the availability of well-annotated genomes. As the number of publicly available microbial genomes continues to increase exponentially, the need for quality control and consistent annotation is becoming critical. We present proGenomes3, a database of 907 388 high-quality genomes containing 4 billion genes that passed stringent criteria and have been consistently annotated using multiple functional and taxonomic databases including mobile genetic elements and biosynthetic gene clusters. proGenomes3 encompasses 41 171 species-level clusters, defined based on universal single copy marker genes, for which pan-genomes and contextual habitat annotations are provided. The database is available at http://progenomes.embl.de/., (© The Author(s) 2022. Published by Oxford University Press on behalf of Nucleic Acids Research.)

Background: Atopic dermatitis (AD) is a chronic, recurrent, inflammatory skin condition that is associated with detrimental effects on the lives of patients and their families, including an impact on quality of life (QOL). Studies about QOL on Latin American AD patients are scarce and have generally included few patients., Objective: describing AD impact on the QOL in a large cohort in Argentina., Methods: a structured web-based survey including 1,650 AD pediatric and adult patients was performed., Results: according to retrieved data, AD symptoms onset started during childhood in most patients, but 20 % of participants reported that manifestations of AD were initially perceived during late adolescence and adulthood. Important differences were observed among country regions, with a shorter time-to-diagnosis in most populated and richer districts. Main affected domains included frustration, anger, mood alterations, stress, sleep alterations, routine alterations, pain and economic impact of AD., Limitations: biases inherent to survey design., Conclusions: we consider that our study contributes to a better understanding of AD in Argentina, as well as its physical, social and financial impact on affected patients., (Universidad Nacional de Córdoba)

Similar to managing software packages, managing the ontology life cycle involves multiple complex workflows such as preparing releases, continuous quality control checking and dependency management. To manage these processes, a diverse set of tools is required, from command-line utilities to powerful ontology-engineering environmentsr. Particularly in the biomedical domain, which has developed a set of highly diverse yet inter-dependent ontologies, standardizing release practices and metadata and establishing shared quality standards are crucial to enable interoperability. The Ontology Development Kit (ODK) provides a set of standardized, customizable and automatically executable workflows, and packages all required tooling in a single Docker image. In this paper, we provide an overview of how the ODK works, show how it is used in practice and describe how we envision it driving standardization efforts in our community. Database URL: https://github.com/INCATools/ontology-development-kit., (© The Author(s) 2022. Published by Oxford University Press.)

Natural microbial communities are phylogenetically and metabolically diverse. In addition to underexplored organismal groups 1 , this diversity encompasses a rich discovery potential for ecologically and biotechnologically relevant enzymes and biochemical compounds 2,3 . However, studying this diversity to identify genomic pathways for the synthesis of such compounds 4 and assigning them to their respective hosts remains challenging. The biosynthetic potential of microorganisms in the open ocean remains largely uncharted owing to limitations in the analysis of genome-resolved data at the global scale. Here we investigated the diversity and novelty of biosynthetic gene clusters in the ocean by integrating around 10,000 microbial genomes from cultivated and single cells with more than 25,000 newly reconstructed draft genomes from more than 1,000 seawater samples. These efforts revealed approximately 40,000 putative mostly new biosynthetic gene clusters, several of which were found in previously unsuspected phylogenetic groups. Among these groups, we identified a lineage rich in biosynthetic gene clusters ('Candidatus Eudoremicrobiaceae') that belongs to an uncultivated bacterial phylum and includes some of the most biosynthetically diverse microorganisms in this environment. From these, we characterized the phospeptin and pythonamide pathways, revealing cases of unusual bioactive compound structure and enzymology, respectively. Together, this research demonstrates how microbiomics-driven strategies can enable the investigation of previously undescribed enzymes and natural products in underexplored microbial groups and environments., (© 2022. The Author(s).)

Trichophyton benhamiae is a zoonotic dermatophyte that can cause tinea corporis, tinea faciei and tinea capitis, producing inflammatory lesions, especially in children. In this publication, we describe 7clinical cases of pediatric patients that occurred in our institution between July 2019 and January 2020. All patients underwent a conventional mycological study. The identification of fungi isolates was confirmed by MALDI-TOF MS and sequencing of the ribosomal DNA. T. benhamiae was identified as the etiological agent, whose epidemiological link in all cases was the contact with Guinea pigs. This is the first description of infections caused by T. benhamiae in Argentina. This dermatophyte can be misidentified as other more frequent dermatophytes when performing conventional studies. Molecular technology should be used to reach a definitive diagnosis. It is important to have epidemiological data from patients such as contact with non-traditional pets, especially Guinea pigs, for an adequate presumptive diagnosis of this dermatophytosis., (Copyright © 2021 Asociación Argentina de Microbiología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Importance: Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to establish., Objective: To expand the genotypic and phenotypic spectra of ichthyosis and delineate genotype-phenotype associations., Design, Setting, and Participants: This cohort study recruited an international group of individuals with ichthyosis and describes characteristic and distinguishing features of common genotypes, including genotype-phenotype associations, during a 10-year period from June 2011 to July 2021. Participants of all ages, races, and ethnicities were included and were enrolled worldwide from referral centers and patient advocacy groups. A questionnaire to assess clinical manifestations was completed by those with a genetic diagnosis., Main Outcomes and Measures: Genetic analysis of saliva or blood DNA, a phenotyping questionnaire, and standardized clinical photographs. Descriptive statistics, such as frequency counts, were used to describe the cases in the cohort. Fisher exact tests identified significant genotype-phenotype associations., Results: Results were reported for 1000 unrelated individuals enrolled from around the world (mean [SD] age, 50.0 [34.0] years; 524 [52.4%] were female, 427 [42.7%] were male, and 49 [4.9%] were not classified); 75% were from the US, 12% from Latin America, 4% from Canada, 3% from Europe, 3% from Asia, 2% from Africa, 1% from the Middle East, and 1% from Australia and New Zealand. A total of 266 novel disease-associated variants in 32 genes were identified among 869 kindreds. Of these, 241 (91%) pathogenic variants were found through multiplex amplicon sequencing and 25 (9%) through exome sequencing. Among the 869 participants with a genetic diagnosis, 304 participants (35%) completed the phenotyping questionnaire. Analysis of clinical manifestations in these 304 individuals revealed that pruritus, hypohydrosis, skin pain, eye problems, skin odor, and skin infections were the most prevalent self-reported features. Genotype-phenotype association analysis revealed that the presence of a collodion membrane at birth (odds ratio [OR], 6.7; 95% CI, 3.0-16.7; P < .001), skin odor (OR, 2.8; 95% CI, 1.1-6.8; P = .02), hearing problems (OR, 2.9; 95% CI, 1.6-5.5; P < .001), eye problems (OR, 3.0; 95% CI, 1.5-6.0; P < .001), and alopecia (OR, 4.6; 95% CI, 2.4-9.0; P < .001) were significantly associated with TGM1 variants compared with other ichthyosis genotypes studied. Skin pain (OR, 6.8; 95% CI, 1.6-61.2; P = .002), odor (OR, 5.7; 95% CI, 2.0-19.7; P < .001), and infections (OR, 3.1; 95% CI, 1.4-7.7; P = .03) were significantly associated with KRT10 pathogenic variants compared with disease-associated variants in other genes that cause ichthyosis. Pathogenic variants were identified in 869 (86.9%) participants. Most of the remaining individuals had unique phenotypes, enabling further genetic discovery., Conclusions and Relevance: This cohort study expands the genotypic and phenotypic spectrum of ichthyosis, establishing associations between clinical manifestations and genotypes. Collectively, the findings may help improve clinical assessment, assist with developing customized management plans, and improve clinical course prognostication.

Background: The Investigation/Study/Assay (ISA) Metadata Framework is an established and widely used set of open source community specifications and software tools for enabling discovery, exchange, and publication of metadata from experiments in the life sciences. The original ISA software suite provided a set of user-facing Java tools for creating and manipulating the information structured in ISA-Tab-a now widely used tabular format. To make the ISA framework more accessible to machines and enable programmatic manipulation of experiment metadata, the JSON serialization ISA-JSON was developed., Results: In this work, we present the ISA API, a Python library for the creation, editing, parsing, and validating of ISA-Tab and ISA-JSON formats by using a common data model engineered as Python object classes. We describe the ISA API feature set, early adopters, and its growing user community., Conclusions: The ISA API provides users with rich programmatic metadata-handling functionality to support automation, a common interface, and an interoperable medium between the 2 ISA formats, as well as with other life science data formats required for depositing data in public databases., (© The Author(s) 2021. Published by Oxford University Press GigaScience.)

CARD14-associated papulosquamous eruption (CAPE) is a proposed term that encompasses features ranging from psoriasis to pityriasis rubra pilaris (PRP) in association with CARD14 mutations. The early onset of the disease, prominent facial involvement, family history of an autosomal dominant trait, and poor response to conventional treatment are characteristics of CAPE that distinguish it from classical psoriasis and PRP. We describe the clinical features, family history, and response to therapy in three unrelated children with CAPE and compare these characteristics with those of previously described pediatric patients. Testing for CARD14 mutations in children with early onset of features of psoriasis or pityriasis rubra pilaris and resistance to conventional therapy should be considered., (© 2021 Wiley Periodicals LLC.)

Competing Interests: Competing interests: None.

Dermatological emergencies are a frequent reason for emergency departments consultation. In order to determine the prevalence of dermatological emergencies, to describe the kind of dermatological diseases that present as emergencies, to analyze the coincidence between the diagnoses received by the patients in those cases with a previous consultations for the same cutaneous manifestation, and to analyze the behavior according to the health system segment in which they were attended: public segment and private segment; a prospective, observational, analytical, cross-sectional and multi-center study was carried out. Two thousand eight hundred one patients were included. The prevalence of consultations for dermatological emergencies in adults was 15% in the same time period (public segment: 10.6 and private segment: 22.5%, p < 0.05). The consultation was due to an infectious disease in 35.5%, allergic in 29.6% and neoplastic in 8.6%; 0.7% of patients were hospitalized. In 31.7% of patients who had a previous consultation, a coincidence was found between the diagnoses made in 80.7% of those attended by a dermatologist, and 52.6% evaluated by non-dermatologist physician. The high prevalence of dermatological consultations and the existing differences in the probability of receiving an appropriate diagnosis according to the specialization of the intervening professional, show the importance of the presence of dermatology-trained physicians in the emergency area.

Most monogenic disorders have a primary clinical presentation. Inherited ISG15 deficiency, however, has manifested with two distinct presentations to date: susceptibility to mycobacterial disease and intracranial calcifications from hypomorphic interferon-II (IFN-II) production and excessive IFN-I response, respectively. Accordingly, these patients were managed for their infectious and neurologic complications. Herein, we describe five new patients with six novel ISG15 mutations presenting with skin lesions who were managed for dermatologic disease. Cellularly, we denote striking specificity to the IFN-I response, which was previously assumed to be universal. In peripheral blood, myeloid cells display the most robust IFN-I signatures. In the affected skin, IFN-I signaling is observed in the keratinocytes of the epidermis, endothelia, and the monocytes and macrophages of the dermis. These findings define the specific cells causing circulating and dermatologic inflammation and expand the clinical spectrum of ISG15 deficiency to dermatologic presentations as a third phenotype co-dominant to the infectious and neurologic manifestations., Competing Interests: Declaration of Interests The authors declare no competing interests., (Copyright © 2020 The Author(s). Published by Elsevier Inc. All rights reserved.)

Congenital candidiasis infection often presents as a skin rash with variable involvement of nails and mucous membranes. Isolated nail involvement is rare, may present late, and can often be managed with topical antifungal medication. We report a case of congenital candidiasis limited to the fingernails that resolved completely within 3 months with topical treatment., (© 2019 Wiley Periodicals, Inc.)

Psoriasis is a chronic, multifactorial inflammatory disease; its clinical severity can vary widely. Treatment of severe cases during pregnancy is of special interest. To date there is scarce information available and most data comes from other medical specialties that use similar treatments. Immunosuppressors are strongly discouraged during pregnancy and breastfeeding. Amongst biologic agents, anti-TNFα having been the longest on the market has allowed for the most experience. It is known that transplacental transport of these drugs does not occur until gestational week 22, once organogenesis is completed. Within this group certolizumab pegol, seems to be the safest choice, as its molecular structure does not cross the placental barrier. Beyond pregnancy, it is important to take into account these drugs' half-life and passage to breast milk, as well as its impact on neonatal immunization., (© 2019 Wiley Periodicals, Inc.)

Linear IgA bullous dermatosis is an acquired subepidermal immunoglobulin-mediated vesiculobullous disease. In this retrospective, observational, descriptive study, we describe the clinical characteristics, treatments, and outcomes of 17 patients with linear IgA bullous dermatosis. Two children had been vaccinated 2 weeks before the onset of symptoms, 2 had had bronco-obstructive respiratory symptoms, and 1 had received intravenous antibiotic therapy. We also observed an association with autoimmune hepatitis in one patient and alopecia areata in another. One boy had VACTERL association. Diagnosis was confirmed by histopathology and direct immunofluorescence. Sixteen patients were treated with dapsone, which was combined with oral corticosteroids in 8 cases and topical corticosteroids in two. Of note in this series was the occurrence of relapses in the perioral area coinciding with infections and vaccination, and the association between linear IgA bullous dermatosis and autoimmune hepatitis and VACTERL association., (Copyright © 2019 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Parvovirus B19 is a DNA virus of the Parvoviridae family. We present four children with unusual exanthems associated with parvovirus infection: a purpuric periflexural pattern, a purpuric vasculitic pattern, and a combination of the two., (© 2018 Wiley Periodicals, Inc.)

Background: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors., Objective: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14., Methods: Subjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed., Results: We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab., Limitations: Relatively small sample size., Conclusions: Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab., (Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

Iso-Kikuchi syndrome, or congenital onychodysplasia of the index finger, is an uncommon condition characterized by total anonychia or dysplasia of the nail of the index finger. It is occasionally accompanied by underlying bone abnormalities and is rarely associated with other conditions. Although various hypotheses have been put forward to explain the pathophysiology of the syndrome, its etiology remains unknown. We report the cases of 3 pediatric patients (2 boys and 1 girl) with nail changes and bone abnormalities consistent with Iso-Kikuchi syndrome. We highlight the importance of recognizing this entity early to avoid the need for additional tests and unnecessary treatment., (Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

Inflammatory breast cancer is an aggressive and infiltrative malignancy that is often misdiagnosed as an infection because of its symptoms and signs of inflammation, delaying proper diagnosis and treatment. We report a case of inflammatory breast cancer showing correlation between dermoscopic and histopathological diagnoses. We highlight the utility of dermoscopy for skin biopsy site selection.

NMR is a widely used analytical technique with a growing number of repositories available. As a result, demands for a vendor-agnostic, open data format for long-term archiving of NMR data have emerged with the aim to ease and encourage sharing, comparison, and reuse of NMR data. Here we present nmrML, an open XML-based exchange and storage format for NMR spectral data. The nmrML format is intended to be fully compatible with existing NMR data for chemical, biochemical, and metabolomics experiments. nmrML can capture raw NMR data, spectral data acquisition parameters, and where available spectral metadata, such as chemical structures associated with spectral assignments. The nmrML format is compatible with pure-compound NMR data for reference spectral libraries as well as NMR data from complex biomixtures, i.e., metabolomics experiments. To facilitate format conversions, we provide nmrML converters for Bruker, JEOL and Agilent/Varian vendor formats. In addition, easy-to-use Web-based spectral viewing, processing, and spectral assignment tools that read and write nmrML have been developed. Software libraries and Web services for data validation are available for tool developers and end-users. The nmrML format has already been adopted for capturing and disseminating NMR data for small molecules by several open source data processing tools and metabolomics reference spectral libraries, e.g., serving as storage format for the MetaboLights data repository. The nmrML open access data standard has been endorsed by the Metabolomics Standards Initiative (MSI), and we here encourage user participation and feedback to increase usability and make it a successful standard.

Methotrexate is an antimetabolite analog to folic acid that competitively inhibits the enzyme dihydrofolate reductase and thymidylate synthetase, essential for the synthesis of DNA and RNA. It is widely used in dermatology and its adverse effects on the skin and mucous membranes are varied, including mild and severe reactions. The appearance of erosions and skin ulcers as a manifestation of methotrexate cytotoxicity are quite infrequent. These would represent an early cutaneous sign of pancytopenia due to marrow toxicity secondary to this drug. In most of the cases there are cutaneous diseases prior to ulceration, mainly psoriasis. In the absence of underlying dermatitis, the presence of ulcerations is very rare. We present eight cases of patients with cutaneous signs of methotrexate poisoning, with and without previous dermatoses. Most of them associated mucositis and bone marrow involvement. Treatment guidelines are recommended.

Summary: Submission to the MetaboLights repository for metabolomics data currently places the burden of reporting instrument and acquisition parameters in ISA-Tab format on users, who have to do it manually, a process that is time consuming and prone to user input error. Since the large majority of these parameters are embedded in instrument raw data files, an opportunity exists to capture this metadata more accurately. Here we report a set of Python packages that can automatically generate ISA-Tab metadata file stubs from raw XML metabolomics data files. The parsing packages are separated into mzML2ISA (encompassing mzML and imzML formats) and nmrML2ISA (nmrML format only). Overall, the use of mzML2ISA & nmrML2ISA reduces the time needed to capture metadata substantially (capturing 90% of metadata on assay and sample levels), is much less prone to user input errors, improves compliance with minimum information reporting guidelines and facilitates more finely grained data exploration and querying of datasets., Availability and Implementation: mzML2ISA & nmrML2ISA are available under version 3 of the GNU General Public Licence at https://github.com/ISA-tools. Documentation is available from http://2isa.readthedocs.io/en/latest/., Contact: reza.salek@ebi.ac.uk or isatools@googlegroups.com., Supplementary Information: Supplementary data are available at Bioinformatics online., (© The Author(s) 2017. Published by Oxford University Press.)

Background: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described., Case Presentation: We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution., Conclusion: This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.