Spiny Keratoderma Palmar que precedeu o Diagnóstico de Micose Fungóide: Uma Nova Associação Paraneoplásica?

Spiny keratoderma is a rare dermatosis of unknown etiology that has been described with both hereditary and acquired variants. The acquired form has been associated with underlying malignancy and systemic diseases. We report a case of a 65-year- -old caucasian male presenting with multiple filiform hyperkeratotic papules in the palmar aspect of his hands which were present for the past year. Skin biopsy revealed aspects compatible with spiny keratoderma. After 10 months of follow-up, the patient developed mycosis fungoides, staged as IB according to the European Organization for Research and Treatment of Cancer and treated with PUVAtherapy with good control of both dermatosis. The authors raise the hypothesis of a new paraneoplastic association of spiny keratoderma.Os quadros de spiny keratoderma são raros, de etiologia desconhecida e ocorrem de forma esporádica ou hereditária. A variante esporádica ocorre frequentemente em associação a neoplasias ou doenças sistémicas. Os autores relatam o caso de um doente caucasiano que recorreu à consulta de Dermatologia com multiplas pápulas hiperqueratósicas filiformes palmares presentes desde há um ano. Foi realizada uma biópsia cutânea que permitiu efectuar o diagnóstico de spiny keratoderma. Após dez meses de follow-up, o doente desenvolveu lesões cutâneas de micose fungóide, tendo sido classificado como estadio IB de acordo com a European Organization for Research and Treatment of Cancer e tratado com PUVAterapia com controlo satisfatório da dermatose. Os autores discutem a hipótese de este caso se tratar de uma nova associação paraneoplásica de um quadro de spiny keratoderma

Protocolos de Fototerapia no Tratamento da Psoríase

Psoriasis is a chronic inflammatory disease frequently seen in dermatologic practice. Although it is possible to control the majority of patients using only topical therapies, a significant percentage is refractory to these treatments, requiring systemic therapies. In these cases, one of the possible options is phototherapy. This paper details the various available therapeutic modalities of phototherapy in the treatment of psoriasis and the most frequently used protocols.A psoríase é uma doença inflamatória crónica muito frequente na prática Dermatológica. Apesar de ser possível o controlo da maioria dos doentes com recurso apenas a terapêuticas tópicas, uma percentagem significativa é refractária a estes tratamentos, sendo necessária a instituição de terapêutica sistémica. Nestes casos, uma das opções será a fototerapia. Neste trabalho são detalhadas as várias modalidades terapêuticas da Fototerapia disponíveis no tratamento da Psoríase e os protocolos mais frequentemente utilizados

Novo método de avaliação dinâmica da articulação patelo-femoral em RM

A patologia patelo-femoral é uma das mais frequentes causas de consulta do joelho. A problemática desta articulação é reconhecidamente multifactorial. Apesar de estabelecidos vários factores de risco, tem sido globalmente assumida a necessidade de uma avaliação dinâmica e objectiva desta “articulação”, face a recorrentes erros diagnósticos. Revela-se essencial, quer no âmbito do diagnóstico, orientando a triagem patológica (e por conseguinte a escolha das terapias mais adequadas); quer ao nível do “follow-up” do paciente, nomeadamente para avaliação dos novos métodos cirúrgicos incluindo reconstruções do ligamento patelo-femoral medial (LPFM) para instabilidades objectivas. A hipótese deste estudo é que, da avaliação funcional dinâmica combinada com os factores morfológicos clássicos pode resultar a detecção de novos factores de risco e de avaliação funcional pós operatória da patelo-femoral

Reflectance confocal microscopy for the diagnosis of skin infections and infestations

Reflectance confocal microscopy (RCM) is a noninvasive real-time imaging technique that has been widely used for the diagnosis of skin cancer. More recently, it has been reported as a useful tool for the diagnosis and management of several inflammatory and infectious skin disorders. This article provides an overview of the current available applications of RCM use in cutaneous infections and infestations. PubMed was used to search the following terms in various combinations: reflectance confocal microscopy, skin, hair, nail, infection, parasitosis, mycosis, virus, bacteria. All papers were accordingly reviewed. In most cutaneous infections or infestations, the main alterations are found in the epidermis and upper dermis, where the accuracy of confocal microscopy is nearly similar to that of histopathology. The high resolution of this technique allows the visualization of most skin parasites, fungi, and a few bacteria. Although viruses cannot be identified because of their small size, viral cytopathic effects can be observed on keratinocytes. In addition, RCM can be used to monitor the response to treatment, thereby reducing unnecessary treatments

On the development of advanced methodologies to assist on the diagnosis of human articulations pathologies : a biomechanical approach

The main purpose of this investigation is to present a preliminary study on the development of advanced methodologies to assist on the diagnosis of human articulations pathologies. In this process, a biomechanical approach is considered to characterize the patellofemoral joint. The present research work involves two distinct scientific domains, respectively, engineering and health sciences, and arises as a result of an association between the Mechanical Engineering Department of the University of Minho and a Portuguese company of medical consulting, ESPMEN. The correlation of both of these areas takes part of the highest biomedical engineer’s research interests and professional ambitions. One area where this kind of approach is essential is in the understanding of patellofemoral disorders, due to their ambiguous definition, multifactorial aetiology and common thread with and impact on nearly all knee conditions. Thus, the present project represents an appealing challenge to all the involved parts. This paper describes the patellofemoral (PF) problems, from their physiopathology to epidemiology, focusing their critical question: the diagnosis, but from a conclusive perspective of resolution. Actually, since the majority of the PF cases are recurrently misdiagnosed, there is in fact an urgent need of standardization of the physical examination methods. The biomechanical approach should prospectively culminate in the development of a standard assessment methodology that could precisely diagnose the PF pathologies and moreover allow clinicians to apply the most accurate and personalized treatment to each patient.Fundação para a Ciência e a Tecnologia (FCT

FUMARIC ACID ESTERS - A THERAPEUTIC OPTION IN PLAQUE PSORIASIS

Os ésteres de ácido fumárico estão licenciados para o tratamento sistémico da psoríase, na Alemanha, desde 1994. Estes derivados do fumarato constituem uma terapêutica eficaz, segura e económica quando comparada com outras terapêuticas sistémicas utilizadas no tratamento da psoríase moderada a grave. Considera-se que este fármaco tem um grande potencial, não só para o tratamento da psoríase em placas, como também para outras doenças dermatológicas menos frequentes. Este artigo tem como objetivo efetuar uma revisão sobre mecanismos de acção, indicações e contra-indicações para esta terapêutica.Fumaric acid esters are licensed for the treatment of psoriasis in Germany, since 1994. They are effective, safe and economical when compared with other systemic therapies used in moderate to severe plaque-type psoriasis. Fumarate esters have promising potential not only for the treatment of psoriasis but also for other less frequent dermatological conditions. The aim of this article is to review the mechanisms of action, indications and contraindications for this therapy

Porto Index Score: validação de novo método de avaliação ecográfica da patelo-femoral

A instabilidade patelo-femoral é uma das mais frequentes causas de consulta do joelho. O diagnóstico e classificação proposta pela escola de Lyon assenta nos achados clínicos e radiológicos incluindo TC (ou mais recentemente RM). A displasia da tróclea, altura da rótula, TA-GT e báscula patelar são classicamente assumidos como factores de risco major. A hipótese deste estudo é que, da avaliação funcional por ecografia é possível aferir uma correlação morfo-funcional pelo menos tão eficaz como pelos protocolos de TC ou RM com um custo significativamente mais baixo

NON-HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA - THE IMPORTANCE OF PRENATAL DIAGNOSIS

A epidermólise bolhosa juncional é uma genodermatose caracterizada por fragilidade cutânea e formação de erosões e bolhas a nível da junção dermo-epidérmica, após trauma minor. Reportamos o caso clínico de um recém-nascido, sexo masculino, caucasiano, com erupção cutânea caracterizada por bolhas tensas e erosões nas mãos, abdómen e couro cabeludo. Realizou-se uma biopsia cutânea para imunoflurescência directa com painel de anticorpos, que foi compatível com o diagnóstico de epidermólise bolhosa juncional não-Herlitz. No estudo genético identificou-se 2 mutações no gene COL17A1. Destaca-se nos antecedentes familiares, um irmão com dermatose bolhosa, falecido na terceira semana de vida por intercorrência infeciosa, sem ter sido possível efectuar o diagnóstico definitivo que possibilitasse o diagnóstico pré-natal. Salientamos a importância da referenciação rápida destes doentes a centros especializados, de forma a possibilitar o diagnóstico precoce desta patologia, uma orientação clínica adequada e um correto aconselhamento genético, incluindo o diagnóstico pré-natal em futuras gravidezes.Junctional epidermolysis bullosa is a group of inherited blistering diseases characterized by increased skin fragility, blisters and erosions after minor trauma, due to tissue cleavage at the dermal-epidermal junction. We report the case of a male Caucasian infant, born with erosions and tense blisters on the hands, abdomen and scalp. Immunoflurescence antigen mapping revealed paucity of collagen XVII immunolabelling, compatible with the diagnosis of non-Herlitz junctional epidermolysis bullosa. Molecular analysis of the COL17A1 gene revealed compound heterozygosity for two frameshift mutations. Family history was positive for a brother with a bullous dermatosis, who died from sepsis on the 3rd week of life without a definitive diagnosis that could enable precise risk estimation and prenatal diagnosis. We emphasize the importance of rapid referral to specialized centers, to provide early accurate diagnosis, adequate clinical management and prenatal diagnosis in subsequent pregnancies

Lanthanide-based complexes as efficient physiological temperature sensors

A new molecular thermometric sensor based on the terbium(III) complex [C2mim][Tb(fod)4] (C2mim – 1-methyl-3-ethylimidazolium, fod− - tetrakis-6,6,7,7,8,8,8-heptafluoro-2,2-dimethyl-3,5-octanedionate), doped with 0.015% of its europium(III) analogue (1, [C2mim][Tb(fod)4]0.99985:[C2mim][Eu(fod)4]0.00015), was prepared and its thermochromic behaviour evaluated from ambient temperature up to 75 °C, including in the physiological range (35–45 °C). It was found that the intensity ratio of the 5D4→7F5 (TbIII) and 5D0→7F2 (EuIII) transitions is correlated with temperature having three different linear regimes. Visual colorimetry allowed the evaluation of the temperature in different ranges from green at ambient temperature, to yellow and finally red at higher temperatures. The TbIII complex emission intensity is extremely sensitive to small temperature variations, particularly between 25 and 35 °C, were it reaches only 40% of the initial intensity. Confinement of the dopped TbIII tetrakis-complex in the organic polymeric matrix poly(methylmethacrylate) (PMMA) induced higher thermal stability in 1, together with a strong temperature dependence of the most intense emissive transition of the TbIII complexes. The photoluminescence quantum yield of polymer-lanthanide hybrid materials increased significantly compared with that of 1. Under 366 nm irradiation, the hybrid material presents a green colour at 25 °C that evolves to yellow at 30 °C and to a white tone at 35 °C.publishe

CDK1 Prevents Unscheduled PLK4-STIL Complex Assembly in Centriole Biogenesis

The deposited article is a post-print version (author's manuscript from PMC and available in PMC 2017 May 9).This publication hasn't any creative commons license associated.This deposit is composed by the main article and the supplementary materials are present in the publisher's page in the following link: https://www.sciencedirect.com/science/article/pii/S0960982216303001?via%3Dihub#sec4Centrioles are essential for the assembly of both centrosomes and cilia. Centriole biogenesis occurs once and only once per cell cycle and is temporally coordinated with cell-cycle progression, ensuring the formation of the right number of centrioles at the right time. The formation of new daughter centrioles is guided by a pre-existing, mother centriole. The proximity between mother and daughter centrioles was proposed to restrict new centriole formation until they separate beyond a critical distance. Paradoxically, mother and daughter centrioles overcome this distance in early mitosis, at a time when triggers for centriole biogenesis Polo-like kinase 4 (PLK4) and its substrate STIL are abundant. Here we show that in mitosis, the mitotic kinase CDK1-CyclinB binds STIL and prevents formation of the PLK4-STIL complex and STIL phosphorylation by PLK4, thus inhibiting untimely onset of centriole biogenesis. After CDK1-CyclinB inactivation upon mitotic exit, PLK4 can bind and phosphorylate STIL in G1, allowing pro-centriole assembly in the subsequent S phase. Our work shows that complementary mechanisms, such as mother-daughter centriole proximity and CDK1-CyclinB interaction with centriolar components, ensure that centriole biogenesis occurs once and only once per cell cycle, raising parallels to the cell-cycle regulation of DNA replication and centromere formation.ERC grant: (ERC-2010-StG-261344); FCT grants: (FCT Investigator, EXPL/BIM-ONC/0830/2013, PTDC/SAU-BD/105616/2008); EMBO installation grant.info:eu-repo/semantics/publishedVersio