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1.
Pediatr Dermatol ; 40(6): 1104-1106, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37219506

RESUMEN

CARD14-associated papulosquamous eruption (CAPE) is a rare inflammatory skin eruption that can have features of psoriasis, pityriasis rubra pilaris, and erythroderma. This skin condition is known for its resistance to topical or conventional systemic therapies. Successful treatment of CAPE with anti-IL-12/IL-23 and IL-17 inhibitors has been reported. We present a case of a 2-year-old girl with CAPE who was successfully treated with ustekinumab.


Asunto(s)
Dermatitis Exfoliativa , Fármacos Dermatológicos , Pitiriasis Rubra Pilaris , Psoriasis , Niño , Femenino , Humanos , Preescolar , Ustekinumab/uso terapéutico , Fármacos Dermatológicos/uso terapéutico , Pitiriasis Rubra Pilaris/tratamiento farmacológico , Psoriasis/tratamiento farmacológico , Guanilato Ciclasa , Proteínas de la Membrana , Proteínas Adaptadoras de Señalización CARD
2.
Sex Transm Dis ; 48(2): e30-e31, 2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33448730

RESUMEN

ABSTRACT: We report a case of perianal reactivation of herpes simplex virus type 2 in a 27-year-old man, who was HIV positive with good immunovirological status, after a laser-assisted (alexandrite) hair removal session. We discuss the clinical and laboratory features and the role of prophylaxis with antivirals, particularly in certain patients such as immunocompromised ones.


Asunto(s)
Remoción del Cabello , Herpes Simple , Adulto , Antivirales/uso terapéutico , Remoción del Cabello/efectos adversos , Herpes Simple/tratamiento farmacológico , Herpesvirus Humano 2 , Humanos , Huésped Inmunocomprometido , Rayos Láser , Masculino
3.
J Org Chem ; 86(24): 17866-17883, 2021 12 17.
Artículo en Inglés | MEDLINE | ID: mdl-34843245

RESUMEN

A range of bis-triazolylchalcogenium-BTD 3 was synthesized by a copper-catalyzed azide-alkyne cycloaddition of azido arylchalcogenides 1 and 4,7-diethynylbenzo[c][1,2,5]thiadiazole 2. Eight new compounds were obtained in moderate to good yields using 1 mol % of copper(II) acetate monohydrate under mild reaction conditions. In addition, the synthesized bis-triazolylchalcogenium-BTD 3a-3h were investigated regarding their photophysical, electrochemical, and biomolecule binding properties in solution. In general, compounds presented strong absorption bands at the 250-450 nm region and cyan to green emission properties. The redox process attributed to the chalcogen atom was observed by electrochemical analysis (CV techniques). In addition, spectroscopic studies by UV-vis, steady-state emission fluorescence, and molecular docking calculations evidenced the ability of each derivative to establish interactions with calf-thymus DNA (CT-DNA) and bovine serum albumin (BSA). The behavior presented for this new class of compounds makes them a promising tool as optical sensors for biomolecules.


Asunto(s)
Albúmina Sérica Bovina , Tiadiazoles , ADN , Simulación del Acoplamiento Molecular
4.
Transpl Infect Dis ; 23(4): e13613, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33835649

RESUMEN

Dermatophytes are common keratinophilic fungi responsible for superficial skin infections. Deep dermatophytosis is a rare form of invasive skin infection described in immunocompromised patients. We report the case of a 65-year-old man with a history of an orthotopic liver transplant for hepatocarcinoma 6 months earlier, who presented with small painless erythematous papules in lower limbs, some of which were umbilicated. Skin biopsy showed an intense non-necrotizing granulomatous reaction in the dermis around fungal structures. Trichophyton rubrum was identified as the causal agent through culture and internal transcribed spacer sequencing.


Asunto(s)
Exantema , Tiña , Anciano , Arthrodermataceae , Humanos , Masculino , Piel , Tiña/diagnóstico , Tiña/tratamiento farmacológico , Trichophyton/genética
5.
J Cutan Pathol ; 47(11): 1073-1075, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32716598

RESUMEN

Uncombable hair syndrome is a rare disorder of the hair shaft that leads to silvery and unruly hair. The hair shaft anomaly is characterized by a longitudinal groove that is detected by scanning electronic microscopy-considered to be the gold standard for diagnosis. Recently, hair cross-sectioning has been reported as a viable alternative, but currently available methods still have some flaws, especially because of hair samples' processing specificities. Here, we present two cases of uncombable hair syndrome and a new embedding technique using epoxy to perform the diagnosis.


Asunto(s)
Enfermedades del Cabello/diagnóstico , Enfermedades del Cabello/patología , Técnicas de Preparación Histocitológica/métodos , Preescolar , Compuestos Epoxi , Femenino , Humanos
6.
Dermatol Ther ; 32(4): e12947, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31025527

RESUMEN

Allergic contact dermatitis (ACD) is a type IV, delayed-type reaction caused by skin contact with low-molecular-weight organic chemicals and metal ions that activate antigen-specific T cells, primarily T-helper 1 (Th1), in a sensitized individual, leading to skin eczema.First-line treatments are based on avoidance of causal agents and topical corticosteroids/immunomodulators. In recalcitrant cases, chronic oral immunosuppressive agents may be used, but they may have serious adverse effects and do not address the immunological disfunction. We report a case of severe ACD, unresponsive to topical or oral immunosuppressive therapy, which resolved itself after treatment with teriflunomide (TF) 14 mg/daily used for multiple sclerosis. TF is a once-daily, oral selective and reversible dihydroorotate dehydrogenase inhibitor, revealing a new treatment option for ACD.


Asunto(s)
Crotonatos/uso terapéutico , Dermatitis Alérgica por Contacto/tratamiento farmacológico , Eccema/tratamiento farmacológico , Toluidinas/uso terapéutico , Dermatitis Alérgica por Contacto/patología , Dihidroorotato Deshidrogenasa , Eccema/patología , Inhibidores Enzimáticos/uso terapéutico , Femenino , Humanos , Hidroxibutiratos , Persona de Mediana Edad , Nitrilos , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/antagonistas & inhibidores , Índice de Severidad de la Enfermedad , Resultado del Tratamiento
8.
Sensors (Basel) ; 16(9)2016 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-27649181

RESUMEN

This paper presents the steps for developing a low-cost POrtableNavigation Tool for Underwater Scenarios (PONTUS) to be used as a localization device for subsea targets. PONTUS consists of an integrated ultra-short baseline acoustic positioning system aided by an inertial navigation system. Built on a practical design, it can be mounted on an underwater robotic vehicle or be operated by a scuba diver. It also features a graphical user interface that provides information on the tracking of the designated target, in addition to some details on the physical properties inside PONTUS. A full disclosure of the architecture of the tool is first presented, followed by thorough technical descriptions of the hardware components ensemble and the software development process. A series of experiments was carried out to validate the developed prototype, and the results are presented herein, which allow assessing its overall performance.

10.
J Exp Med ; 221(5)2024 May 06.
Artículo en Inglés | MEDLINE | ID: mdl-38557723

RESUMEN

CD4+ T cells are vital for host defense and immune regulation. However, the fundamental role of CD4 itself remains enigmatic. We report seven patients aged 5-61 years from five families of four ancestries with autosomal recessive CD4 deficiency and a range of infections, including recalcitrant warts and Whipple's disease. All patients are homozygous for rare deleterious CD4 variants impacting expression of the canonical CD4 isoform. A shorter expressed isoform that interacts with LCK, but not HLA class II, is affected by only one variant. All patients lack CD4+ T cells and have increased numbers of TCRαß+CD4-CD8- T cells, which phenotypically and transcriptionally resemble conventional Th cells. Finally, patient CD4-CD8- αß T cells exhibit intact responses to HLA class II-restricted antigens and promote B cell differentiation in vitro. Thus, compensatory development of Th cells enables patients with inherited CD4 deficiency to acquire effective cellular and humoral immunity against an unexpectedly large range of pathogens. Nevertheless, CD4 is indispensable for protective immunity against at least human papillomaviruses and Trophyrema whipplei.


Asunto(s)
Linfocitos T CD4-Positivos , Linfocitos T Colaboradores-Inductores , Humanos , Linfocitos T CD8-positivos , Activación de Linfocitos , Antígenos HLA , Isoformas de Proteínas/metabolismo
11.
Acta Med Port ; 36(12): 841-845, 2023 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-37837360

RESUMEN

Species associated with visceral leishmaniasis, such as L. infantum, may be responsible for cutaneous leishmaniasis (CL), particularly in the Mediterranean region. In immunosuppressed hosts, classification as complicated CL is essential, as the risk of mucosal leishmaniasis warrants systemic therapy. We report the case of a forty-seven-year-old male living in Portugal, with Fabry disease and receiving immunosuppressive treatment with adalimumab and methotrexate for Crohn's disease. There was no travel history outside of Europe. He presented a two-year-old, 5.5 cm plaque with a well-defined hyperkeratotic elevated border and central, painless ulceration on his back. The biopsy revealed parasites inside macrophages suggestive of Leishmania, and PCR identified the species as L. infantum. A biopsy via nasal endoscopy excluded mucosal involvement. Classification as complicated CL dictated treatment with liposomal amphotericin B and subsequent topical paramomycin. The rarity of CL in Portugal may delay its diagnosis, especially in autochthonous infections. Treatment choice is complicated by the heterogeneity of drugs available worldwide. As the global prevalence of CL increases, it is important to be aware of this diagnosis.


Asunto(s)
Antiprotozoarios , Leishmania infantum , Leishmaniasis Cutánea , Leishmaniasis Visceral , Humanos , Masculino , Persona de Mediana Edad , Antiprotozoarios/uso terapéutico , Terapia de Inmunosupresión , Leishmaniasis Cutánea/tratamiento farmacológico , Leishmaniasis Cutánea/epidemiología , Leishmaniasis Cutánea/parasitología , Leishmaniasis Visceral/tratamiento farmacológico
12.
GE Port J Gastroenterol ; 29(1): 38-44, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35111962

RESUMEN

A 51-year-old woman, clinically diagnosed with Xeroderma pigmentosum (XP), showed abnormalities in liver enzymes, high ferritin and transferrin saturation levels, with ultrasonographic features of chronic liver disease, in addition to skin hyperpigmentation. Genetic testing confirmed the clinical hypothesis of hereditary hemochromatosis (HH). Due to the known proximity of HFE (6p22.2) and POLH (6p21.1) genes, accountable for HH and the XP-V variant, respectively, a genetic test was offered and a rare variant of the POLH gene was identified. We report the first confirmed case, to our knowledge, of a patient diagnosed both with XP and HH, in whom two mutated neighbor genes - POLH and HFE - were identified, possibly the result of genetic linkage.


Uma mulher de 51 anos, com antecedentes pessoais de Xeroderma pigmentosum (XP), apresentava, além de hiperpigmentação cutânea, alterações nas enzimas hepáticas, elevação da ferritina sérica e da saturação da transferrina, bem como alterações ecográficas compatíveis com doença hepática crónica. A realização de um teste genético permitiu confirmar a hipótese diagnóstica de Hemocromatose Hereditária (HH). Pela proximidade conhecida dos genes HFE (6p22.2) e POLH (6p21.1), responsáveis pela HH e pelo XP-V, respetivamente, foi realizado um teste genético que detetou um polimorfismo raro do gene POLH. Reportamos o primeiro caso de uma paciente diagnosticada com XP e HH, na qual foram identificados dois genes vizinhos mutados ­ POLH e HFE ­, possivelmente como resultado de ligação genética.

13.
BioDrugs ; 33(4): 391-399, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31172372

RESUMEN

Psoriasis is a chronic inflammatory skin disease with significant psychological and physical impact. Over the last few decades, several highly effective target therapies have been developed, leading to a major paradigm shift in the way psoriatic disease is managed. Despite this, a proportion of patients still do not respond or lose response over time. Bispecific antibodies target two different cytokines simultaneously, potentially offering a better disease control. Interleukin (IL)-17A and IL-17F share structural homology and have similar biologic function. IL-17A is classically considered to be the most biologically active, but recent studies have shown that IL-17F is also increased in psoriatic skin and synovial cell in psoriatic arthritis, supporting the rationale for targeting both IL-17A and IL-17F in psoriatic disease. Bimekizumab is the first-in-class monoclonal antibody designed to simultaneously target IL-17A and IL-17F. Bimekizumab is currently in clinical development for psoriasis, psoriatic arthritis, and ankylosing spondylitis, with promising results. In early clinical trials, bimekizumab demonstrated a rapid onset of action, good safety profile, and high tolerability by treated study participants. Long-term results and head-to-head trials comparing bimekizumab with other agents will be crucial to define the role of bimekizumab in the treatment of psoriatic disease.


Asunto(s)
Anticuerpos Monoclonales Humanizados/uso terapéutico , Psoriasis/tratamiento farmacológico , Espondilitis Anquilosante/tratamiento farmacológico , Anticuerpos Monoclonales Humanizados/farmacología , Ensayos Clínicos como Asunto , Humanos , Interleucina-17/antagonistas & inhibidores , Interleucina-17/inmunología , Psoriasis/inmunología , Piel/efectos de los fármacos , Piel/inmunología , Espondilitis Anquilosante/inmunología , Membrana Sinovial/efectos de los fármacos , Membrana Sinovial/inmunología , Resultado del Tratamiento
14.
RSC Adv ; 9(17): 9468-9474, 2019 Mar 22.
Artículo en Inglés | MEDLINE | ID: mdl-35520747

RESUMEN

A carbonylative Sonogashira coupling approach to the synthesis of glyco-alkynones is described. Eighteen examples were obtained in moderate do nearly quantitative yields under mild conditions employing Mo(CO)6 as a safe carbon monoxide source. Functionalization of the alkynyl moiety via cycloaddition with organic azides provided six examples of glyco-triazoles.

16.
Eur J Dermatol ; 32(1): 161-162, 2022 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-35653101
20.
RSC Adv ; 9(17): 9468-9474, 2019.
Artículo en Inglés | SES-SP, SES SP - Instituto Butantan, SES-SP | ID: but-ib15969

RESUMEN

A carbonylative Sonogashira coupling approach to the synthesis of glyco-alkynones is described. Eighteen examples were obtained in moderate do nearly quantitative yields under mild conditions employing Mo(CO)6 as a safe carbon monoxide source. Functionalization of the alkynyl moiety via cycloaddition with organic azides provided six examples of glyco-triazoles.

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