78 documents found, page 1 of 8

Acute Porphyria Screening Protocol in the Emergency Department: A Strategy for ...

Acute porphyrias are a group of rare metabolic diseases, arise from defects in the heme biosynthesis pathway. These conditions are clinically characterized by acute neurovisceral attacks, chronic symptoms, and long-term complications. Given the non-specific presentation and the typically low index of clinical suspicion, diagnostic delays are recurrent and result in significant preventable morbimortality. To add...

Hydroxycinnamic and Hydroxybenzoic-Based Mitochondriotropic Antioxidants Improv...

Assisted reproductive technologies (ART) use has increased over the past decades. However, reports concerning ART’s low efficiency continue to emerge, citing causes related to lower embryo quality and pregnancy rates compared to their in vivo counterparts. One of the setbacks of ART is oxidative stress, which can impair embryo developmental rates. Mitochondrial redox and energetic homeostasis determine both cel...

Balloon pulmonary angioplasty and riociguat in the management of chronic thromb...

Background: No systematic review has been published comparing the effectiveness and safety of balloon pulmonary angioplasty (BPA) and riociguat in patients with chronic thromboembolic pulmonary hypertension (CTEPH) across studies that evaluate both treatment methods. Methods: A literature search was conducted using PubMed, ScienceDirect, and Elsevier. Clinical, functional, and hemodynamic effectiveness criteria...

Deficiência da descarboxilase dos L-aminoácidos aromáticos: possibilidade de in...

A deficiência da descarboxilase dos L-aminoácidos aromáticos (AADC) é uma doença genética rara que afeta a síntese de neurotransmissores, resultando em sintomas neurológicos e de desenvolvimento graves. A quantificação da 3-O-metildopa (3-OMD), em amostras de sangue seco, tem-se mostrado um método fiável, sensível e específico para a deteção desta patologia no período neonatal. Este facto, associado ao desenvol...

Protocol for gender-affirming voice care: a systematic review

Objective: Development of a protocol for patients with gender dysphoria related to voice. Study Design: Systematic review. Materials and Methods: A literature review was conducted using the PubMed and Google Scholar databases, including publications in English, Portuguese, and Spanish that addressed the clinical evaluation and medical and/or surgical treatment of voice in transgender patients. The systematic re...

Porfirias – Implementação do Laboratório Nacional de Referência para o Diagnóst...

Balloon pulmonary angioplasty and Riociguat in the management of chronic thromb...

Background: No systematic review has been published comparing the effectiveness and safety of balloon pulmonary angioplasty (BPA) and riociguat in patients with chronic thromboembolic pulmonary hypertension (CTEPH) across studies that evaluate both treatment methods. Methods: A literature search was conducted using PubMed, ScienceDirect, and Elsevier. Clinical, functional, and hemodynamic effectiveness criteria...

After all, Porphyria exists in Portugal! A three-year study

Introduction: Porphyrias are a group of eight rare inherited disorders, each caused by a defect in a specific enzymatic step of heme biosynthesis. These disorders are multisystemic, with variable symptoms, and represent a major burden for patients and families, with disabling chronic symptoms scattered with life-threatening acute attacks. There are two main clinical types of porphyria: acute porphyria and cutan...

Submandibular abscess caused by Listeria monocytogenes: report of a rare case

Listeria monocytogenes infection usually presents with self-limited gastrointestinal symptoms, neurolisteriosis or bacteremia. Focal involvement is very rare. We describe a case of submandibular abscess, with a 3-week progressing history of submandibular pain and swelling, diagnosed concomitantly with type 2 diabetes mellitus. An empirical antibiotic treatment was started and drainage of the abscess was perform...

Advancing the understanding of pupil size variation in occupational safety and ...

Pupil size can be used as an important biomarker for occupational risks. In recent years, there has been an increase in the development of open-source tools dedicated to obtaining and measuring pupil diameter. However, it remains undetermined determined whether these tools are suitable for use in occupational settings. This study explores the significance of pupil size variation as a biomarker for occupational ...