Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia.

We report the case of an adolescent with severe primary ciliary dyskinesia (PCD) phenotype associated with a rare genotype. His clinical condition deteriorated, with daily cough and breathlessness, hypoxemia, and lung function decline. Despite being started on home noninvasive ventilation (NIV), the symptoms progressed to dyspnea at rest and thoracic pain.

Expanding the Phenotypic Spectrum of -Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.

Introduction: Pathogenic variants in have been associated with a neurodevelopmental disorder mainly characterized by intellectual disability, severe language impairment, and motor developmental delay. Since its first description in 2016, only 15 patients have been described in the literature.

Methods: Here, we report 2 additional unrelated Portuguese children presenting intellectual disability and motor delay in whom de novo nonsense pathogenic variants in have been identified by next-generation sequencing analysis.

Efficacy of ultrasound-guided infiltration with levobupivacaine and triamcinolone for myofascial pain syndrome of the quadratus lumborum: a retrospective observational study.

Introduction And Objectives: Myofascial Pain Syndrome (MPS) of the Quadratus Lumborum muscle (QL) is a frequent cause of chronic low back pain. With this study, we aimed to assess the efficacy of ultrasound-guided infiltration with 0.25% levobupivacaine and 40.

Variability in the management and imaging use in paediatric minor head trauma in European emergency departments. A Research in European Pediatric Emergency Medicine study.

Objective: The objective of the study was to assess the variability in the management of paediatric MHT in European emergency departments (EDs).

Methods: This was a multicentre retrospective study of children ≤18 years old with minor head trauma (MHT) (Glasgow Coma Scale ≥14) who presented to 15 European EDs between 1 January 2013 and 31 December 31. Data on clinical characteristics, imaging tests, and disposition of included patients were collected at each hospital over a 3-year period.

GO-DACT: a phase 3b randomised, double-blind, placebo-controlled trial of GOlimumab plus methotrexate (MTX) versus placebo plus MTX in improving DACTylitis in MTX-naive patients with psoriatic arthritis.

Objectives: To assess the efficacy of golimumab in combination with methotrexate (MTX) versus MTX monotherapy in psoriatic arthritis (PsA) dactylitis.

Methods: Multicentre, investigator-initiated, randomised, double-blind, placebo-controlled, parallel-design phase 3b trial in 11 Portuguese rheumatology centres. Patients with PsA along with active dactylitis and naive to MTX and biologic disease-modifying antirheumatic drugs (bDMARDs) were randomly assigned to golimumab or placebo, both in combination with MTX.

'I saw it as a second chance': A qualitative exploration of experiences of treatment failure and regimen change among people living with HIV on second- and third-line antiretroviral therapy in Kenya, Malawi and Mozambique.

Increasing numbers of people living with HIV (PLHIV) in sub-Saharan Africa are experiencing failure of first-line antiretroviral therapy and transitioning onto second-line regimens. However, there is a dearth of research on their treatment experiences. We conducted in-depth interviews with 43 PLHIV on second- or third-line antiretroviral therapy and 15 HIV health workers in Kenya, Malawi and Mozambique to explore patients' and health workers' perspectives on these transitions.

The GO-DACT protocol: a multicentre, randomized, double-blind, parallel-group study to compare the efficacy of golimumab in combination with methotrexate (MTX) versus MTX monotherapy.

The GO-DACT is an investigator-initiated, national, multicentric randomized placebo-controlled double-blinded trial, that assesses dactylitis as primary endpoint. Psoriatic arthritis patients naïve to methotrexate and biologic disease modifying anti-rheumatic drugs, with at least one active dactylitis, were assigned to golimumab in combination with methotrexate or placebo in combination with methotrexate, for 24 weeks. Both clinical (dactylitis severity score and the Leeds dactylitis index) and imaging (high resolution magnetic resonance imaging), among others, were assessed as outcomes.

Effectiveness of early adalimumab therapy in psoriatic arthritis patients from Reuma.pt - EARLY PsA.

Objective To compare outcomes in psoriatic arthritis (PsA) patients initiating adalimumab (ADA), with short- and long-term disease duration and to evaluate the potential effect of concomitant conventional synthetic disease-modifying antirheumatic drugs (csDMARD) or glucocorticoids. Methods Analyses included adult PsA patients registered in the Rheumatic Diseases Portuguese Register (Reuma.pt) between June 2008-June 2016 who received ADA for ≥3 months.

Anticentromere antibody positive Ackerman's Syndrome with Granulomatous Anterior Uveitis.

Ackerman's Syndrome or Intersticial Granulomatous Dermatitis with Arthritis has been an issue of increasing number of reports in the last decade which had focused its heterogeneous cutaneous and rheumatologic expression besides the initial manifestations reported by Ackerman and his group. Granulomatosis anterior uveitis has not been previously described. Some patients are reported to have positive autoantibodies but association with anticentromere antibodies has not been previously described as well, to our knowledge.

Radiculopathy in a patient with chronic tophaceus gout: vertebral imaging.

Introduction: Spinal involvement is infrequent in chronic gout. However, some cases of back pain with radiculopathy secondary to this etiology have been reported.

Case Report: 56-year old male patient, with history of arterial hypertension, hypertriglyceridemia, obesity, glucose intolerance and alcohol abuse, diagnosed with gout in his fifth decade of life.

[Impact of postoperative cognitive decline in quality of life: a prospective study].

Background: Regardless the progress in perioperative care postoperative cognitive decline (PCD) has been accepted unequivocally as a significant and frequent complication of surgery in older patients. The aim of this study was to evaluate the incidence of postoperative cognitive decline and its influence on quality of life three months after surgery.

Methods: Observational, prospective study in a Post-Anesthesia Care Unit (PACU) in patients aged above 45 years, after elective major surgery.

Real-life effectiveness of Golimumab in biologic-naïve patients with rheumatoid arthritis - data from the Rheumatic Diseases Portuguese Register (Reuma.pt).

Objectives: To assess the effectiveness of subcutaneous Golimumab 50 mg/monthly combined with methotrexate (SC GLM + MTX) over 52 weeks of treatment, in biologic-naïve RA patients, in a multicentre nationwide cohort from the Rheumatic Diseases Portuguese Register (Reuma.pt).

Methods: Data for this observational study was collected from March 2011 to August 2015.

Validation of Portuguese-translated computer touch-screen questionnaires in patients with rheumatoid arthritis and spondyloarthritis, compared with paper formats.

The aim of this paper was to assess the validity and reliability of the touch-screen standard Portuguese version of the following patient-reported outcomes (PROs), compared with paper format, in patients with rheumatoid arthritis (RA) and spondyloarthritis: Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Functional Index (BASFI), Ankylosing Spondylitis Quality of Life scale (ASQoL), Short-Form 36 (SF-36), Health Assessment Questionnaire (HAQ) and visual analogue scales (VAS) measuring pain and burden of disease. Adult patients with RA and spondyloarthritis attending the Portuguese Institute of Rheumatology were recruited from March 2013 to January 2014. Patients filled the paper and touch-screen formats of the standard Portuguese versions of the PROs.

Erk5 nuclear location is independent on dual phosphorylation, and favours resistance to TRAIL-induced apoptosis.

Nucleocytoplasmic shuttling of multiple signalling proteins is critical in the control of processes such as cell proliferation, differentiation, or apoptosis. One group of proteins whose activity depends on this nucleocytoplasmic traffic includes the mitogen-activated protein kinases. Usually, these kinases reside in the cytoplasm and move to the nucleus upon dual phosphorylation.

ERK5 activates NF-kappaB in leukemic T cells and is essential for their growth in vivo.

MAPK cascades play a central role in the cellular response to the environment. The pathway involving the MAPK ERK5 mediates growth factor- and stress-induced intracellular signaling that controls proliferation or survival depending upon the cell context. In this study, we show that reducing ERK5 levels with a specific small hairpin RNA 5 (shERK5) reduced cell viability, sensitized cells to death receptor-induced apoptosis, and blocked the palliative effects of phorbol ester in anti-Fas Ab-treated cells.

The extracellular linker of pro-neuregulin-alpha2c is required for efficient sorting and juxtacrine function.

The neuregulins (NRGs) play important roles in animal physiology, and their disregulation has been linked to diseases such as cancer or schizophrenia. The NRGs may be produced as transmembrane proteins (proNRGs), even though they lack an N-terminal signal sequence. This raises the question of how NRGs are sorted to the plasma membrane.