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

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.

Prospective Multi-Center Longitudinal Study to Validate Accuracy of the Global Anatomic Staging System (GLASS) Score in Predicting Major Acute Limb Events in Patients With Chronic Limb Threatening Ischemia Undergoing Endovascular Intervention: The PROMOTE-GLASS Study Protocol.

Introduction: Developed by the Global Vascular Guidelines committee, the Global Limb Anatomic Staging System (GLASS) is an angiographic scoring system used for quantifying infrainguinal disease extent and predicting treatment success with endovascular techniques (EVT). Currently, no other risk prediction model is available for patients with chronic limb threatening ischemia (CLTI) undergoing EVT. GLASS' validation and adoption outside academic institutions for research are limited.

Association of Malocclusion with Temporomandibular Disorders: A Cross-Sectional Study.

: Temporomandibular disorders (TMD) encompass a range of musculoskeletal and neuromuscular conditions affecting the temporomandibular joint (TMJ) and associated structures. This cross-sectional study, conducted in a Portuguese TMD department, aimed to assess the relationship between malocclusion and TMD severity. : Data on demographic variables, TMD clinical symptoms, and malocclusion classes were collected using the EUROTMJ database.

Results of Adjustable Trans-Obturator Male System for Stress Urinary Incontinence after Transurethral Resection or Holmium Laser Enucleation of the Prostate: International Multicenter Study.

: Male stress urinary incontinence (SUI) after surgical treatment of benign prostatic enlargement (BPE) is an infrequent but dreadful complication and constitutes a therapeutic challenge. The efficacy and safety of the adjustable trans-obturator male system (ATOMS) in these patients is rather unknown, mainly due to the rarity of this condition. We aimed to assess the results of ATOMS to treat SUI after transurethral resection (TURP) or holmium laser enucleation (HoLEP) of the prostate.

Performance of ChatGPT 3.5 and 4 as a tool for patient support before and after DBS surgery for Parkinson's disease.

Deep brain stimulation (DBS) is a neurosurgical procedure that involves implanting electrodes into specific areas of the brain to treat a variety of medical conditions, including Parkinson's disease. Doubts and questions from patients prior to or following surgery should be addressed in line with the most recent scientific and clinical practice. ChatGPT emerges as an example of how artificial intelligence can be used, with its ability to comprehend and answer medical questions in an understandable way, accessible to everyone.

Effect of Cyclin-Dependent Kinase 4/6 Inhibitors on Circulating Cells in Patients with Metastatic Breast Cancer.

The combination of cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) with endocrine therapy (ET) is the standard-of-care for estrogen receptor (ER)-positive, HER2-negative (ER+/HER2- advanced/metastatic breast cancer (mBC). However, the impact of CDK4/6i on circulating immune cells and circulating tumor cells (CTCs) in patients receiving CDK4/6i and ET (CDK4/6i+ET) remains poorly understood. This was a prospective cohort study including 44 patients with ER+/HER2- mBC treated with CDK4/6i+ET in either first or second line.

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.

Impact of an Exercise-Based Cardiac Rehabilitation Program on Cardiopulmonary Test Parameters.

Introduction: Exercise-based cardiac rehabilitation programs (CRPs) represent a multidisciplinary therapeutic approach tailored to improve cardiorespiratory fitness and overall health-related quality of life, while reducing cardiovascular hospitalizations and mortality. Our aim was to determine changes in exercise capacity and cardiac events according to the left ventricular ejection fraction (LVEF) following a CRP.

Methods: This single-center cohort study included 131 patients who completed a center-based CRP from 2015 to 2022.

Association between COVID-19 and the incidence of type 1 diabetes in Portugal - a registry study.

Background: Viral respiratory infections may precipitate type 1 diabetes (T1D). A possible association between the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for COVID-19, and the incidence of T1D is being determined. This study was carried out using Portuguese registries, aiming at examining temporal trends between COVID-19 and T1D.

Treatment patterns and preferences of people living with HIV starting or switching antiretroviral therapy: Real-world evidence from Portugal.

Background: There is a lack of up-to-date real-life evidence on antiretroviral therapy (ART) strategies among people living with HIV (PLWH) in Portugal. This study aimed to describe the treatment strategy used in PLWH either initiating or switching ART.

Methods: Non-interventional, cross-sectional, multicenter study carried out between December 2019 and October 2021 in Portugal.

Preoperative statin therapy for adults undergoing cardiac surgery.

Background: Despite significant advances in surgical techniques and perioperative care, people undertaking cardiac surgery due to cardiovascular disease are more prone to the development of postoperative adverse events. Statins (5-hydroxy-3-methylglutaryl-co-enzyme A (HMG-CoA) reductase inhibitors) are well-known for their anti-inflammatory and antioxidant effects and are established for primary and secondary prevention of coronary artery disease. In addition, statins are thought to have clinical benefits in perioperative outcomes in people undergoing cardiac surgery.

Midterm Survival Results of Preserflo in a Real-World Setting.

Prcis: Preserflo surgery is a safe procedure, effective in reducing intraocular pressure into the "low teens," surgical survival is greatest in cases of high baseline intraocular pressure (above 21 mm Hg) and when performed as a standalone procedure.

Purpose: To evaluate midterm surgical survival and safety profile of Preserflo filtering surgery.

Methods: In this retrospective, cohort study, consecutive patients who underwent standardized Preserflo implantation with mitomycin C from December 2019 to April 2021 were included.

Malignant melanoma in Portuguese adult population: a scoping review of the real-world evidence.

Purpose: Malignant melanoma is an aggressive cancer, and there is a notable dearth on epidemiology, clinical and treatment characterization within the Portuguese population. We performed a scoping review to identify real-world evidence studies focused in Portuguese adult patients with malignant melanoma.

Methods: A comprehensive search was conducted.