Correction: Wilson's Disease: A Prevalence Study in a Portuguese Population.

[This corrects the article DOI: 10.7759/cureus.43718.

Acinetobacter baumannii Early-Onset Sepsis After Home Delivery Into Toilet Water.

Early-onset sepsis (EOS) is an important cause of morbidity and mortality in newborns, usually caused by pathogens acquired intrapartum. We present the case of a term neonate born by home delivery in the toilet, after an unsupervised pregnancy. He developed a culture-proven early-onset sepsis caused by .

Gastric dysplasia in random biopsies: the influence of infection and alcohol consumption in the presence of a lesion.

Background: Gastric dysplasia in the absence of an endoscopically defined lesion is rare, usually either a false positive diagnosis or a previously unidentified precancerous lesion during esophagogastroduodenoscopy (EGD).

Aims: Evaluate factors associated with the presence of an endoscopically visible lesion during follow-up in patients with histologic diagnosis of gastric dysplasia in random biopsies.

Methods: Retrospective cohort study including patients referred to our institution for gastric dysplasia in random biopsies during Index EGD.

Wilson's Disease: A Prevalence Study in a Portuguese Population.

Introduction Wilson's disease (WD) is a rare and underdiagnosed genetic disorder caused by anomalous tissue copper deposition, and for which epidemiological studies, specifically in Portugal, are scarce. Objectives This study aimed to evaluate the prevalence and incidence of WD and provide a description of its main clinical and laboratory features. Methods A retrospective study was carried out, with a search between 1995 and 2015, of all patients with a minimum follow-up of three months and birth confirmed in the northern region of Portugal, with an estimated population of 3,689,682 inhabitants.

The role of mifepristone on first trimester miscarriage treatment - A double-blind randomized controlled trial - MiFirsT.

Objectives: To evaluate the efficacy of combined mifepristone and misoprostol compared to misoprostol alone in outpatient medical treatment of first trimester miscarriage. Additionally, the study intends to compare the rate of complications, adverse effects, and treatment acceptability between groups.

Study Design: Single-center double-blind randomized placebo-controlled trial including women with diagnosis of missed first trimester miscarriage up to 9 weeks of gestation.

An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).

Background: Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis.

Bilateral Synchronous Olecranon Apophyseal Fracture in a Teenager: A Case Report.

Introduction: While elbow fractures are frequently observed in children, isolated apophyseal detachments of the olecranon are rare, accounting for just 1.7% of all elbow fractures in healthy children. These fractures have been found to have a large positive likelihood ratio for osteogenesis imperfecta (OI).

The Influence of Pregestational Body Mass Index and Physical Activity Patterns on Maternal, Delivery, and Newborn Outcomes in a Sample of Portuguese Pregnant Women: A Retrospective Cohort Study.

Introduction: There is a linear association between pregestational body mass index (BMI) and almost all adverse pregnancy outcomes. Pregnancy is "a window of opportunities" in terms of changing behavior and improving awareness of healthy living. The proper assessment of physical activity levels, during pregnancy, determines trends, health benefits, and their effects over time.

Assessment of Cardiovascular Risk and Arterial Stiffness in Patients With Human Immunodeficiency Virus.

Background: Several studies suggest that patients infected with the human immunodeficiency virus (HIV) under highly active antiretroviral therapy (HAART) have a higher cardiovascular risk than the general population. Arterial stiffness is an independent predictor of cardiovascular events and can be measured through carotid-femoral pulse wave velocity (PWV). The objectives of this study were to characterize a sample of HIV-infected patients under HAART regarding cardiovascular risk, compare PWV values of this group with those of uninfected controls, and investigate predictors of PWV in the HIV-infected group.

Clozapine-Induced Eosinophilia: a Case Report.

Introduction: Clozapine is an atypical antipsychotic drug eligible for treatment-resistant schizophrenia. It frequently represents the best and the only choice in resistant schizophrenia. However, its use is feared by many professionals due to its possible adverse effects, such as eosinophilia.

Screening for diminished ovarian reserve in Portugal: a cost-saving answer to shorten the fertility journey.

Assess the budget impact of nationwide screening for diminished ovarian reserve (OR), via anti-Müllerian hormone (AMH) levels, to the Portugal National Health System (NHS). The clinical journey was determined using literature and the family planning decision-making process/response using survey results. A panel of four local clinicians validated all assumptions/inputs.

Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea-Acanthocytosis.

Background: Chorea-acanthocytosis (ChAc) is associated with mutations of VPS13A, which encodes for chorein, a protein implicated in lipid transport at intracellular membrane contact sites.

Objectives: The goal of this study was to establish the lipidomic profile of patients with ChAc.

Methods: We analyzed 593 lipid species in the caudate nucleus (CN), putamen, and dorsolateral prefrontal cortex (DLPFC) from postmortem tissues of four patients with ChAc and six patients without ChAc.

Cardioneuroablation for severe neurocardiogenic syncope.

Introduction And Objectives: Cardioneuroablation (CNA), a technique based on radiofrequency ablation of cardiac vagal ganglia, was developed to treat recurrent vasovagal syncope (VVS) with a predominant cardioinhibitory component, as an alternative to pacemaker implantation. The aim of our study was to evaluate the safety and success rate of CNA guided by extracardiac vagal stimulation in patients with highly symptomatic cardioinhibitory VVS.

Methods: Prospective study of patients who underwent anatomically guided CNA at two cardiology centers.

EVOLUTION OF DIAGNOSTIC DELAY IN PEDIATRIC INFLAMMATORY BOWEL DISEASE AND THE IMPACT OF THE COVID-19 PANDEMIC.

Background: Pediatric inflammatory bowel disease (IBD) is increasingly prevalent, but diagnosis can still be challenging. Diagnostic delay is particularly deleterious in this age group.

Objective: This study explores the evolution of diagnostic delay in pediatric IBD and the influence of the COVID-19 pandemic.

Splenic Infarction: A Rare Complication of Infectious Mononucleosis.

Infectious mononucleosis (IM) is caused by Epstein-Barr virus (EBV), and the condition is characterized by sore throat, fever, lymphadenopathy, and atypical lymphocytosis. These infections are common in early childhood, with a second peak occurring in late adolescence. EBV is spread by contact with oral secretions.

Mitral annular disjunction: Beyond mitral valve prolapse.

Mitral annular disjunction (MAD) is an easily identifiable entity on transthoracic echocardiography, but is still poorly recognized or ignored. It is often associated with mitral valve prolapse and is itself a risk marker for ventricular arrhythmias and sudden cardiac death, but the management and risk stratification of these patients is not systematized. Two clinical cases of MAD associated with mitral valve prolapse and ventricular arrhythmias are presented.

Retention of small bowel capsule endoscopy.

Purpose Of Review: Capsule endoscopy is widely recognized as a safe and effective procedure to evaluate the small bowel and/or the colon noninvasively. Although infrequent, capsule retention is the most feared adverse event related to this technique. A better knowledge of risk factors, improvement of patients' selection and precapsule patency assessment may further contribute to reducing the incidence of capsule retention, even in patients at increased risk for this complication.