Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations.

Familial hypertrophic cardiomyopathy (HCM) stands as a predominant heart condition, characterised by left ventricle hypertrophy in the absence of any associated loading conditions, with affected individuals having an increased risk of developing heart failure and sudden cardiac death (SCD). Two induced pluripotent stem cell (iPSC) lines were derived from peripheral blood mononuclear cells obtained from two unrelated individuals with previously reported nonsense mutations in the MYBPC3 gene. The first individual is a 48-year-old male (F26) with the MYBPC3 c.

Impact of Diagnostic and Treatment Delays on Survival and Treatment-Related Toxicities in Portuguese Patients With Head and Neck Cancer.

Introduction: Delays in diagnosis and initiation of treatment have a negative impact on the prognosis and survival of head and neck cancer (HNC) patients. These delays also involve more intensive treatments with greater toxicity, dysfunction, and morbidity.

Methods: This was a retrospective observational study with patients diagnosed with HNC between January 1, 2018, and December 31, 2021.

Surgical aortic valve replacement in octogenarians: Single-center perioperative outcomes and five-year survival.

Introduction And Objectives: Aortic stenosis is the most common valvular heart disease. The number of octogenarians proposed for intervention is growing due to increased lifespan. In this manuscript we aim to evaluate perioperative outcome and long-term survival after surgical aortic valve replacement (SAVR) in octogenarians, comparing patients with low surgical risk (EuroscoreII <4%) with intermediate-high risk (EuroscoreII ≥4%).

Clinical and Epidemiological Characteristics of Mpox in HIV-Infected and Uninfected Men Who Have Sex with Men: A Retrospective Study in Lisbon.

The resurgence of Mpox, predominantly among men who have sex with men (MSM), has prompted an analysis of its clinical manifestations and epidemiological patterns, particularly in individuals living with human immunodeficiency virus (HIV). This retrospective study aims to delineate and compare the clinical presentations and epidemiological characteristics of Mpox among HIV-positive and HIV-negative individuals. A total of 58 confirmed Mpox cases from a dermatology department in Lisbon were analyzed, focusing on mucocutaneous manifestations, systemic symptoms, and laboratory parameters.

Effect of HCV eradication by DAAs on liver steatosis, carotid atherosclerosis, and associated metabolic comorbidities: A systematic review.

Background And Aims: The beneficial effect of Hepatitis C virus (HCV) eradication by direct antiviral agents (DAAs) on liver fibrosis is well defined. Despite this, the impact of viral eradication in both hepatic and extra-hepatic metabolic features is underreached. This systematic review aimed to synthesize the evidence on the impact of HCV eradication by DAAs on liver steatosis, carotid atherosclerosis, glucidic impairment, dyslipidaemia, and weight gain.

Good Syndrome in a Young Woman: An Unusual Presentation.

Good Syndrome is a rare disease that comprises the presence of a thymoma, immunodeficiency, and recurrent opportunistic infections. We report the case of a young woman who was diagnosed with Good Syndrome, who had a long-term history of recurrent infections, often due to atypical agents, and who also had a previous history of immunodeficiency and a B1 thymoma invading the large vessels, lung, and pericardium (Masaoka stage IV). She underwent surgical resection of the mediastinal mass, requiring vena cava superior reconstruction due to the extent of invasion, followed by adjuvant radiotherapy and immunoglobulin G supplementation.

Anxiety and depression in patients with giant cell arteritis.

Objectives: To compare the prevalence of anxiety and depression in patients with GCA with that in the general population, using the Hospital Anxiety and Depression Scale (HADS), and to identify independent predictors of these psychiatric manifestations in patients with GCA.

Methods: We conducted a cross-sectional study including all patients diagnosed with GCA followed during 1 year in a vasculitis outpatient clinic. The HADS and 36-item Short Form (SF-36) questionnaires were prospectively collected.

Tranexamic acid decreases transfusion requirements during the modified pi-plasty procedure for sagittal craniosynostosis.

The aim of our study was to evaluate the effectiveness of intraoperative tranexamic acid (TXA) administration in decreasing transfusion needs in patients undergoing modified pi-plasty. A retrospective study was performed using a population of 59 patients who underwent modified pi-plasty, wherein patients who received TXA during surgery (study group, n = 26) were compared with patients who did not receive TXA (control group, n = 33). The primary study endpoints were intraoperative red blood cell substitution (%), postoperative red blood cell substitution (%), total red blood cell substitution (%), and hematocrit variation.

Immune-related serious adverse events with immune checkpoint inhibitors: Systematic review and network meta-analysis.

Purpose: Immune checkpoint inhibitors (ICIs) have revolutionized cancer treatment, though uncertainty exists regarding their immune-related safety. The objective of this study was to assess the comparative safety profile (odds ratio) of ICIs and estimate the absolute rate of immune-related serious adverse events (irSAEs) in cancer patients undergoing treatment with ICIs.

Methods: We searched for randomized trials till February 2021, including all ICIs for all cancers.

Antepartum Rupture of the Posterior Uterine Wall in a Woman With Two Previous Cesarean Deliveries.

Uterine rupture is a rare pregnancy complication. In patients with a previous cesarean delivery, it usually involves the scarred area. Uterine rupture of the posterior wall is even rarer and mostly described during labor.

Soft-tissue, non-osteogenic distraction of the mandible and lower face in bilateral hemifacial microsomia-technical report.

The aim of this study is to present a sequential strategy of soft-tissue, non-osteogenic distraction with a novel device, followed by microvascular bony reconstruction for severe cases of mandibular hypoplasia. The case of a 21-year-old woman with Goldenhar syndrome is presented, whose mandible remained severely hypoplastic despite previous attempts at distraction and was not suitable for further osteogenic distraction. Soft tissue deficiency and pin track scarring prevented free fibular transfers.

Enterobacterales carrying chromosomal AmpC β-lactamases in Europe (EuESCPM): Epidemiology and antimicrobial resistance burden from a cohort of 27 hospitals, 2020-2022.

Introduction: The ESCPM group (Enterobacter species including Klebsiella aerogenes - formerly Enterobacter aerogenes, Serratia species, Citrobacter freundii complex, Providencia species and Morganella morganii) has not yet been incorporated into systematic surveillance programs.

Methods: We conducted a multicentre retrospective observational study analysing all ESCPM strains isolated from blood cultures in 27 European hospitals over a 3-year period (2020-2022). Diagnostic approach, epidemiology, and antimicrobial susceptibility were investigated.

Dorsal Lytic Lesions: Cancer or Infection?

Infectious spondylodiscitis is a rare disease and typically presents with an insidious progression characterized by spinal pain that usually starts gradually and progressively worsens over several weeks to months. It occurs through three main mechanisms: direct contamination in cases of trauma or surgery, hematogenous dissemination, or through contiguity. We report the case of a 63-year-old male, admitted due to a history of dorsolumbar pain after falling from a height of 1.

Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas.

Introduction: Molecular tests can contribute to improve the preoperative diagnosis of thyroid nodules. Tests available are expensive and not adapted to different populations.

Aim: This study aimed to compare the cyto-histological genetic profile and to evaluate the reliability of molecular tests using ultrasound-guided fine needle aspiration cytology (US-FNAC) in accurately diagnosing differentiated thyroid carcinomas (DTCs) and predicting biologic behavior of papillary thyroid carcinomas (PTCs).