Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels.

Background: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling. Some NMDs have high levels of creatine phosphokinase (CK).

Osler-Weber-Rendu Syndrome as a Rare Cause of Liver Cirrhosis.

It is essential to comprehend the clinical manifestations of hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. This autosomal dominant vascular disorder presents with distinct symptoms, including mucocutaneous telangiectasia, epistaxis, gastrointestinal bleeding, and iron deficiency anemia. Furthermore, arteriovenous malformations (AVMs) commonly occur in the pulmonary, hepatic, and cerebral circulations.

Vasospasm in traumatic brain injury.

Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in young individuals. Management of TBI is complex and aims to prevent secondary injury and optimise conditions for neurological recovery. Vasospasm is a possible complication of TBI, and its significance is unknown.

Traumatic Spondylolisthesis of L5-S1 in a Pediatric Age: A Rarely Described Injury.

In this article, we aim to present the case of a five-year-old child with traumatic spondylolisthesis of L5-S1 associated with a sacral fracture, manifesting as a spinopelvic dissociation. The goal of surgical treatment is to reduce the deformity and provide posterior fixation to restore the sagittal alignment of the lumbosacral junction. One-year follow-up showed good clinical and radiological outcomes.

Prognostic factors associated with disability in a cohort of neuromyelitis optica spectrum disorder and MOG-associated disease from a nationwide Portuguese registry.

Introduction: Neuromyelitis optica spectrum disorders (NMOSD) and MOG-associated disease (MOGAD) are an increasingly recognized group of demyelinating disorders of the central nervous system. Previous studies suggest that prognosis is predicted by older age at onset, number of relapses, the severity of the first attack and autoantibody status.

Objective: To study prognostic factors associated with disability progression and additional relapses in the 3-year follow-up of a national NMOSD/MOGAD cohort.

Potential for organ donation after controlled circulatory death: a retrospective analysis.

Objectives: Despite the discrepancy between demand and availability of organs for transplantation, controlled circulatory death donation has not been implemented in Portugal. This study aimed to estimate the potential increase in organ donation from implementing such a program.

Material And Methods: All deceased patients within the intensive care medicine department at Centro Hospitalar Universitário de São João, throughout the year 2019, were subjected to retrospective analysis.

Development and internal validation of a clinical score to predict neonatal hypoglycaemia in women with gestational diabetes.

Introduction: Gestational diabetes (GD) is a risk factor for neonatal hypoglycaemia (NH), but other factors can increase this risk.

Objectives: To create a score to predict NH in women with GD.

Methods: Retrospective study of women with GD with a live singleton birth between 2012 and 2017 from the Portuguese GD registry.

Left Ventricular Pseudoaneurysm: A Bursting Threat.

A 55-year-old man submitted to emergency surgery due to cardiac perforation by stabbing. One month later, he presented with chest pain, and a transthoracic echocardiogram revealed moderate-severe mitral regurgitation. After 6 months, a new transthoracic echocardiogram showed a left ventricular pseudoaneurysm, being later submitted to pseudoaneurysm exclusion and mitral valvuloplasty.

cellulitis with bacteremia in a person who injects drugs, living with HIV-HCV co-infection: a case report.

() is a ubiquitous spore-forming bacteria that has rarely been implicated in extraintestinal infections, mostly in immunocompromised hosts. The authors report a case of cellulitis with bacteremia in a person who injects drugs living with human immunodeficiency virus-hepatitis C virus (HIV-HCV) co-infection. Although similar cases have been reported for some species of the genus, namely () and ), this case reinforces the importance of considering other spp.

Pulmonary Artery Aneurysm Associated with Sarcoidosis in a 75-year-old with Heart Failure: The Challenges of Diagnosis and Management.

Introduction: Pulmonary artery aneurysm (PAA) is a rare abnormality of pulmonary vasculature. It can be idiopathic or secondary to various pathologies, frequently with multiple factors leading to its formation. We report the case of a man with concomitant sarcoidosis and PAA.

Blueberry Muffin Syndrome and Hyperleukocytosis in a Newborn: A Diagnostic Challenge.

Blueberry muffin syndrome (BMS) in neonates, characterized by widespread nodular lesions, presents diagnostic challenges due to its diverse etiologies. Hyperleukocytosis, with leukocyte counts exceeding 100,000/μL, is a rare phenomenon associated with severe complications in neonates. Congenital leukemia (CL), a rare diagnosis within the first month of life, is linked to high mortality.

Challenges in Extubation: A Case of a Non-removable Tracheal Tube Following Surgery.

This report details a challenging case of difficult extubation due to a lodged tracheal tube following surgery, presenting an unexpected and complex clinical situation. An inspection of the airway using videolaryngoscopy revealed an over-inflated cuff beneath the vocal cords. Initial efforts to deflate the cuff with various methods were unsuccessful.

Rheumatoid Arthritis and Pericardial Effusion - A Unique Major Manifestation.

Introduction: Pericardial effusion is common in the setting of rheumatoid arthritis (RA); however, it is rarely its first manifestation.

Case Description: An 82-year-old male presented with abdominal pain, vomiting and fever. Blood analysis revealed elevated systemic inflammatory markers, and an abdominal computed tomography scan revealed non-specific alveolar condensation of the right pulmonary base and pericardial effusion subsequently quantified as medium size by transthoracic echocardiography.

Transperitoneal vs. Retroperitoneal Approach in Laparoscopic Partial Nephrectomy for Posterior Renal Tumors: A Retrospective, Multi-Center, Comparative Study.

The aim of our study is to compare the perioperative, functional, and oncological outcomes of laparoscopic transperitoneal partial nephrectomy (LTPN) and laparoscopic retroperitoneal partial nephrectomy (LRPN) for posterior cT1 renal tumors. We retrospectively collected data on all patients who consecutively underwent LTPN and LRPN for posterior cT1 renal tumors in three different centers from January 2015 to January 2023. Patients with a single, unilateral, cT1 renal mass, located in the posterior renal surface were included.

Effective Postoperative Pain Management in Thoracic Outlet Syndrome Surgery: The Role of the Erector Spinae Plane Block.

Thoracic outlet syndrome (TOS) often necessitates surgical intervention to alleviate neurovascular bundle compression, which can result in severe postoperative pain. The myriad of surgical techniques available for TOS treatment, the intricate involvement of diverse sensory pathways, and the limited literature on effective analgesic methods for these specific cases underscore the need for successful approaches. This report introduces an efficacious multimodal analgesic strategy that incorporates the erector spinae plane (ESP) block to enhance postoperative pain management after a supraclavicular surgical approach.

Disseminated Mycobacterium bovis Infection: A Rare Complication of Bacillus Calmette-Guérin Immunotherapy.

Intravesical instillation of bacillus Calmette-Guérin (BCG) is a crucial adjunctive therapy in the treatment of bladder carcinoma. Its systemic complications are rare but include disseminated () infections, the diagnosis of which is a challenging task that requires keen clinical awareness. We report the case of an adult male treated with BCG who presented with fever, nonspecific constitutional symptoms, hepatic cytolysis, and cholestasis.

Seroprevalence of antibodies against SARS-CoV-2 among health care workers in a Portuguese hospital.

Background: Health care workers (HCW) are presumably exposed to a higher risk of infection by SARS-CoV-2 and could possibly represent a source of transmission to susceptible patients. Thus, characterization of SARS-CoV-2 infection among HCW is necessary to better understand the determinants of viral transmission and properly implement strategies to prevent dissemination and protect HCW and vulnerable patients. The aim of this study was to estimate the seroprevalence of antibodies against SARS-CoV-2 in a Portuguese tertiary hospital, in the period of July 2020 to March 2021, before the generalized use of the SARS-CoV-2 vaccine, characterize its evolution over time, and identify risk factors associated with seroconversion.

conTemporary reflectiOns regarding heart failure manaGEmenT - How to ovERcome the PorTuguese barriers (TOGETHER-PT).

Introduction And Objectives: Heart failure (HF) is a complex clinical syndrome that is a significant burden in hospitalisations, morbidity, and mortality. Although a significant effort has been made to better understand its consequences and current barriers in its management, there are still several gaps to address. The present work aimed to identify the views of a multidisciplinary group of health care professionals on HF awareness and literacy, diagnosis, treatment and organization of care, identifying current challenges and providing insights into the future.

Incidence of postoperative residual neuromuscular blockade - A multicenter, observational study in Portugal (INSPIRE 2).

Background: Although the use of neuromuscular blocking agents (NMBAs) optimizes surgical conditions and facilitates tracheal intubation, it can lead to residual neuromuscular blockade (RNMB), with postoperative complications. This study aimed to assess RNMB incidence and management in Portugal.

Methods: Prospective observational study of patients admitted for elective surgery requiring general anesthesia with nondepolarizing NMBAs between July 2018 and July 2019 at 10 Portuguese hospitals.