93 results match your criteria: "Centro Hospitalar Universitario Lisboa Norte EPE[Affiliation]"

Objective: To test the reliability of the Outcome Measures in Rheumatology Giant cell arteritis (GCA) Ultrasonography Score (OGUS) and other composite scores in a patient-based exercise involving experts and non-experts in vascular ultrasonography.

Methods: Six GCA patients were scanned twice (two rounds separated ≥3 hours) by 12 experts and 12 non-experts. Non-experts received 90 min of theoretical and 240 min of practical training between rounds 1 and 2.

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Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.

Am J Hum Genet

October 2024

Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK. Electronic address:

Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four families) with recessive and non-syndromic RP, carrying as well bi-allelic DNA changes in COQ8B, a gene involved in the biosynthesis of coenzyme Q10.

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Bullous drug eruption.

Clin Exp Dermatol

December 2024

Dermatology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte EPE, Lisbon, Portugal.

Article Synopsis
  • * The condition was diagnosed as a fixed drug eruption (FDE) linked to an allergic reaction from radiocontrast used during the procedure, confirmed by medical history and positive drug testing.
  • * Delayed hypersensitivity reactions (DHRs) can occur after contrast administration, and while skin tests help identify allergens, premedication with corticosteroids may reduce the severity of these reactions.
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sQuiz your knowledge! An unusual autoimmune blistering disorder.

Eur J Dermatol

April 2024

Dermatology and Venereology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte EPE, Lisbon, Portugal, Dermatology and Venereology University Clinic Faculty of Medicine, University of Lisbon, Lisbon, Portugal, Dermatology Research Unit, iMM João Lobo Antunes, University of Lisbon, Lisbon, Portugal.

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Basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs) are high-incidence, non-melanoma skin cancers (NMSCs). The success of immune-targeted therapies in advanced NMSCs led us to anticipate that NMSCs harbored significant populations of tumor-infiltrating lymphocytes with potential anti-tumor activity. The main aim of this study was to characterize T cells infiltrating NMSCs.

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A female patient in her middle childhood presented to the paediatric emergency room (ER) after a bicycle accident with an abdominal impact on the bicycle handlebar. On physical examination, a painful ecchymosis on the upper left quadrant was the only abnormal finding. Abdominal ultrasound showed no intra-abdominal lesions, and the patient was discharged home after 24 hours under monitoring.

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The degree of bowel remission predicts phenotype progression in Crohn's disease.

United European Gastroenterol J

September 2024

Grupo de Estudos de Doença Inflamatória do Intestino (GEDII), Porto, Portugal.

Background: Patients with Crohn's disease (CD) are at risk of progressing from inflammatory to stricturing and penetrating phenotypes. The influence of the depth of remission on the risk of progression has not been adequately evaluated.

Methods: A retrospective cohort study including surgically naïve CD patients with inflammatory phenotype evaluated concomitantly by magnetic resonance enterography and colonoscopy.

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Article Synopsis
  • * A 38-year-old man developed severe Fournier's gangrene linked to an initial perianal abscess, which deteriorated to septic shock and multiple organ failure despite aggressive treatment efforts including surgery and antibiotic therapy.
  • * The diagnosis of perianal tuberculosis was confirmed through biopsies, highlighting the need for awareness of its potential role in complicated cases of Fournier's gangrene and the challenges in managing such coexisting conditions.
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Introduction And Objectives: Artificial urinary sphincter (AUS) is a treatment option for women with stress urinary incontinence (SUI) after failure of previous surgery or as a primary procedure in severe intrinsic sphincter deficiency (ISD). The aim of the study was to assess the long-term efficacy and risk factors for surgical revision and definitive explantation of AUS laparoscopic implantation in female patients.

Methods: A retrospective review of all women submitted to AUS implantation between April 2005 and March 2023 was conducted.

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Article Synopsis
  • The study focuses on extensively drug-resistant Pseudomonas aeruginosa (XDR-PA) in a Portuguese hospital, highlighting its rising incidence, lack of effective treatment options, and high mortality rates.
  • Over the course of three years, 178 cases of XDR-PA were documented, primarily affecting elderly male patients and often linked to respiratory and urinary infections, with notable risk factors including immunosuppression and major surgeries.
  • Among the tested isolates, a small percentage were susceptible to certain antibiotics, with combination therapies being more effective, yet the overall death rate reached 35.1%, particularly higher in patients with certain types of cancer.
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Background: Increasing evidence supports the use of transmural remission as a treatment target in Crohn's disease (CD), but it is seldom achieved in clinical practice. Tight monitoring of inflammation using fecal calprotectin with reactive treatment escalation may potentially improve these results.

Aims: To evaluate if treatment escalation based on fecal calprotectin can improve the rates of transmural remission in CD.

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Background: Hepatitis B virus (HBV) vaccination is recommended for non-immunised patients with rheumatic diseases starting biological disease-modifying antirheumatic drugs (bDMARDs). There is some evidence that HBV vaccination is effective in patients under conventional synthetic disease-modifying anti-rheumatic drugs (csDMARDs), but it is currently unclear whether this also applies to bDMARDs.

Objectives: To assess the efficacy and safety of HBV vaccination in patients with inflammatory arthritides treated with bDMARDs.

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Objective: To develop international consensus-based recommendations for early referral of individuals with suspected polymyalgia rheumatica (PMR).

Methods: A task force including 29 rheumatologists/internists, 4 general practitioners, 4 patients and a healthcare professional emerged from the international giant cell arteritis and PMR study group. The task force supplied clinical questions, subsequently transformed into Population, Intervention, Comparator, Outcome format.

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Background: Although individuals with cancer experience high rates of cardiovascular morbidity, there are limited data on the potential differences in cardiovascular health (CVH) metrics between individuals with and without cancer.

Methods And Results: The National Health and Nutrition Examination Survey between 2015 and 2020 was queried to evaluate the prevalence of health metrics that comprise the American Heart Association Life's Essential 8 construct of cardiovascular health among adult individuals with and without cancer in the United States. Health metric scores were also evaluated according to important patient demographics including age, sex, race and ethnicity, and socioeconomic status.

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Background: Few patients can reach transmural remission in Crohn's disease (CD) with currently available therapies. Proactive optimization of infliximab (IFX) based on trough levels may potentially improve these results.

Methods: Retrospective cohort study including consecutive CD patients starting treatment with IFX.

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Objective: The aim of the present study was to determine the clinical significance of subclinical giant cell arteritis (GCA) in polymyalgia rheumatica (PMR) and ascertain its optimal treatment approach.

Methods: Patients with PMR who fulfilled the 2012 European Alliance of Associations for Rheumatology/American College of Rheumatology Provisional Classification Criteria for PMR, did not have GCA symptoms and were routinely followed up for 2 years and were stratified into two groups, according to their ultrasound results: isolated PMR and PMR with subclinical GCA. The outcomes (relapses, glucocorticoid use and disease-modifying antirheumatic drug treatments) between groups were compared.

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Erosive lesion of the nipple: What is your diagnosis?

Dermatol Online J

August 2023

Department of Dermatology and Venereology, Hospital de Santa Maria, Centro Hospitalar Universitario Lisboa Norte EPE, Lisbon, Portugal.

Erosive and oozing lesions of the nipple, especially when unilateral, should raise suspicion about malignant neoplasms. Herein we report a patient with typical clinical and histopathological features of erosive adenomatosis of the nipple (EAN). It is an uncommon, benign proliferative process of lactiferous ducts of the nipple.

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Purpose: Posterior reversible encephalopathy syndrome (PRES) and reversible cerebral vasoconstriction syndrome (RCVS) are often complicated by vasospasm and ischemia. Monitoring with transcranial color-coded Doppler (TCCD) could be useful, but its role is not established. We studied the incidence of ultrasonographic vasospasm (uVSP) in PRES/RCVS and its relationship with ischemic lesions and clinical outcome.

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Article Synopsis
  • * By sequencing 52% of confirmed cases, researchers uncovered key sublineages of the mpox virus and found evidence of early emergence and spread in Portugal, particularly among men who have sex with men.
  • * The findings emphasize the importance of sexual networks and events like saunas in the virus's spread, showcasing genomic epidemiology as a valuable tool for monitoring and controlling mpox outbreaks and informing vaccine strategies.
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Sacral stress fractures (SSFs) in physically active young patients are frequently misdiagnosed due to the lack of specificity of signs and symptoms. Over the last years, these injuries have been described as rare, although some studies report that the incidence of an SSF in athletes may be as high as 20%.We describe a case of a male long-distance runner in his late 20s with a 1-month undiagnosed SSF.

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Article Synopsis
  • The EULAR updated its recommendations for imaging techniques in diagnosing and monitoring primary large vessel vasculitis (LVV), incorporating recent research and expert consensus.
  • A systematic review highlighted ultrasound as the primary imaging method for suspected giant cell arteritis, while MRI is favored for Takayasu arteritis, with other modalities like FDG-PET and CT as alternatives.
  • Although routine follow-up imaging is not mandated, specific imaging techniques can be used to evaluate relapses or long-term structural damage when standard inflammation markers are unreliable.
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