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Neonatos com síndrome de Down (SD) têm maior predisposição para Doença Mieloproliferativa Transitória (DMT), um distúrbio hematológico com proliferação transitória de células imaturas no sangue periférico e medula óssea. Alguns neonatos com DMT apresentam manifestações cutâneas caracterizadas por pápulas eritematosas difusas, com crostas, vesículas e pústulas, geralmente com envolvimento facial inicial e proeminente. Apesar da remissão espontânea da DTM ao longo de vários meses, cuidados de suporte podem ser exigidos em alguns casos e, ocasionalmente, quimioterapia. Descreve-se o caso de um recém-nascido, fenótipo de síndrome de Down, sexo masculino, que manifestou tais características no 5º dia de vida e propedêutica instituída em Unidade de Terapia Intensiva Neonatal. O diagnóstico é clínico-laboratorial, portanto, foi definido pelas características típicas. O tratamento instituído envolveu medidas conservadoras objetivando cuidados com a pele e mucosas evitando traumas. Observou-se melhora de todas as lesões com um mês de vida. Logo, demonstra-se a importância do diagnóstico diferencial devido à necessidade de acompanhamento clínico regular e quimioterapia em alguns casos.

Eccrine squamous syringometaplasia (ESS) is a histological term describing a mature squamous metaplasia of the eccrine ducts. Eccrine squamous syringometaplasia is not an infrequent histological finding and may be associated with chemotherapy or with a variety of non-specific conditions including infections, neoplastic conditions, and inflammatory skin diseases. We report a 75-year-old man who developed ESS within lesions of leukemia cutis (LC). The patient had an inaugural diagnosis of acute myeloid leukemia (AML) and he was not on chemotherapy when the biopsy was performed.

Ana Teresa Melo,1,2,* Eduardo Dourado,1,2,* Raquel Campanilho-Marques,1,2,* Matilde Bandeira,1,2 Sofia C Barreira,1,2 José Costa,3 Rita Pimenta,4 Sofia Antunes-Duarte,4 Inês Cordeiro,1,2 João E Fonseca1,2 1Rheumatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 2Rheumatology Investigation Unit, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 3Physical Medicine and Rehabilitation Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal; 4Dermatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal*These authors contributed equally to this workCorrespondence: Ana Teresa Melo, Serviço de Reumatologia, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, EPE, R. Prof. Egas Moniz, Lisboa, 1700, Portugal, Tel +351 217805139, Email anateresamelo@campus.ul.ptBackground: Idiopathic inflammatory myopathies (IIM) are a rare heterogeneous group of diseases characterised by chronic skeletal muscle inflammation, but other organs are also frequently involved. IMM represent a diagnostic challenge and a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients.Objective: To describe the general functioning of our multidisciplinary myositis clinic, highlighting the benefits of multidisciplinary team management in patients with confirmed or suspected IIM and to characterise our clinical experience.Methods: Description of the organization of a dedicated multidisciplinary myositis outpatient clinic, supported by IMM specific electronic assessment tools and protocols based on our Portuguese Register - Reuma.pt. In addition, an overview of our activity between 2017 and 2022 is provided.Results: An IIM multidisciplinary care clinic, based on a close collaboration between Rheumatologists, Dermatologists and Physiatrist is detailed in this paper. One hundred and eighty-five patients were assessed in our myositis clinic; 138 (75%) of those were female, with a median age of 58 [45– 70] years. At the last appointment, 130 patients had a confirmed IIM diagnosis, and the mean disease duration was 4 [2– 6] years. The most frequent diagnosis was dermatomyositis (n = 34, 26.2%), followed by antisynthetase syndrome (n = 27, 20.8%) and clinically amyopathic/paucimyopathic dermatomyositis (n = 18, 13.8%). Twenty-four patients (18.5%) were on monotherapy and 94 (72.3%) were on combination therapy.Conclusion: A multidisciplinary approach is important to ensure the correct diagnosis and follow-up of these patients. A myositis clinic, with a standardised practice at a tertiary hospital level, contributes to a standardization of care and opens research opportunities.Keywords: inflammatory myopathies, rheumatology, dermatology, rehabilitation medicine, multidisciplinary clinic

We describe the computational design of proteins that bind the potent analgesic fentanyl. Our approach employs a fast docking algorithm to find shape complementary ligand placement in protein scaffolds, followed by design of the surrounding residues to optimize binding affinity. Co-crystal structures of the highest affinity binder reveal a highly preorganized binding site, and an overall architecture and ligand placement in close agreement with the design model. We use the designs to generate plant sensors for fentanyl by coupling ligand binding to design stability. The method should be generally useful for detecting toxic hydrophobic compounds in the environment.

Over the last two decades, there have been numerous initiatives to improve undergraduate student outcomes in STEM. One model for scalable reform is the inclusive Research Education Community (iREC). In an iREC, STEM faculty from colleges and universities across the nation are supported to adopt and sustainably implement course-based research -- a form of science pedagogy that enhances student learning and persistence in science. In this study, we used pathway modeling to develop a qualitative description that explicates the HHMI Science Education Alliance (SEA) iREC as a model for facilitating the successful adoption and continued advancement of new curricular content and pedagogy. In particular, outcomes that faculty realize through their participation in the SEA iREC were identified, organized by time, and functionally linked. The resulting pathway model was then revised and refined based on several rounds of feedback from over 100 faculty members in the SEA iREC who participated in the study. Our results show that in an iREC, STEM faculty organized as a long-standing community of practice leverage one another, outside expertise, and data to adopt, implement, and iteratively advance their pedagogy. The opportunity to collaborate in this manner and, additionally, to be recognized for pedagogical contributions sustainably engages STEM faculty in the advancement of their pedagogy. Here, we present a detailed pathway model of SEA that, together with underpinning features of an iREC identified in this study, offers a framework to facilitate transformations in undergraduate science education. [ABSTRACT FROM AUTHOR]

Summary: Synthetic biology has the potential to revolutionize biotechnology, public health, and agriculture. Recent studies have shown the enormous potential of plants as chassis for synthetic biology applications. However, tools to precisely manipulate metabolic pathways for bioproduction in plants are still needed.We used bacterial allosteric transcription factors (aTFs) that control gene expression in a ligand‐specific manner and tested their ability to repress semi‐synthetic promoters in plants. We also tested the modulation of their repression activity in response to specific plant metabolites, especially phenylpropanoid‐related molecules. Using these aTFs, we also designed synthetic genetic circuits capable of computing Boolean logic operations.Three aTFs, CouR, FapR, and TtgR, achieved c. 95% repression of their respective target promoters. For TtgR, a sixfold de‐repression could be triggered by inducing its ligand accumulation, showing its use as biosensor. Moreover, we designed synthetic genetic circuits that use AND, NAND, IMPLY, and NIMPLY Boolean logic operations and integrate metabolite levels as input to the circuit.We showed that biosensors can be implemented in plants to detect phenylpropanoid‐related metabolites and activate a genetic circuit that follows a predefined logic, demonstrating their potential as tools for exerting control over plant metabolic pathways and facilitating the bioproduction of natural products. [ABSTRACT FROM AUTHOR]