Autoimmune Polyglandular Syndrome Type 3: A Case Report.

Autoimmune polyglandular syndromes (APS) are characterized by associations of two or more autoimmune diseases (AID). APS type 3 is characterized by the presence of autoimmune thyroid disease associated with other AID, excluding adrenal gland involvement. Here we report a case of a 64-year-old male, with history of type 1 diabetes mellitus (T1DM), diagnosed at the age of 32, who was referred to a Diabetes consultation in 2014 due to poor metabolic control.

Systematic review and meta-analysis of the prognostic role of fibroblast-activation protein in gastrointestinal cancers.

Background: Gastrointestinal (GI) cancers, particularly pancreatic cancer, are characterized by a dense stromal tumor microenvironment where cancer-associated fibroblasts (CAFs) predominate. CAFs comprise highly heterogeneous subpopulations with different functions, which can be both tumor-promoting and tumor-restraining. This systematic review and meta-analysis aims to comprehensively assess the impact of the CAF marker fibroblast-activation protein (FAP) expression on clinical outcomes in GI cancers.

Hemophagocytic Lymphohistiocytosis Secondary to Visceral Leishmaniasis: A Case Report.

Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical entity characterized by fever, constitutional symptoms, and hepatosplenomegaly associated with the presence of hemophagocytosis in the bone marrow and other organs. Visceral leishmaniasis (VL) is a severe zoonotic disease hypoendemic in Portugal, particularly in the Alto Douro region. We report the case of a 21-year-old female patient with a recent diagnosis of human immunodeficiency virus (HIV) infection, stage C3, in the context of severe pneumonia, who presented to the emergency department with fever, erythematous rash on the upper limbs and trunk, choluria and jaundice, one week after starting antiretroviral therapy (ART).

Impact of Congested Match Schedules on Countermovement Jump Metrics in Elite Volleyball Players.

Rebelo, A, Loturco, I, Pereira, JR, Martinho, DV, Valente-dos-Santos, J, and Broek, GV. Impact of congested match schedules on countermovement jump metrics in elite volleyball players. J Strength Cond Res XX(X): 000-000, 2024-The aim of this study was to assess the impact of a congested match schedule on various countermovement jump (CMJ) metrics recorded across the braking, transfer, propulsive, and flight phases of the CMJ.

Quantitative proteomics of regenerating and non-regenerating spinal cords in Xenopus.

Spinal cord injury in humans is a life-changing condition with no effective treatment. However, many non-mammalian vertebrates can fully regenerate their spinal cord after injury. Frogs such as Xenopus can regenerate the spinal cord at larval stages, but lose this capacity at metamorphosis.

Acute Pyelonephritis Complicated With Spontaneous Subcapsular Renal Hematoma: A Case Report.

Spontaneous subcapsular renal hematoma is a rare condition defined as spontaneous hemorrhage confined to the subcapsular and/or perirenal space. Its etiology can vary, ranging from renal tumors to vascular diseases, renal cysts, or infections. Here, we report the case of a 54-year-old male who presented to the emergency department with a two-day history of abdominal pain and fever.

Scaling-up ecological understanding with remote sensing and causal inference.

Decades of empirical ecological research have focused on understanding ecological dynamics at local scales. Remote sensing products can help to scale-up ecological understanding to support management actions that need to be implemented across large spatial extents. This new avenue for remote sensing applications requires careful consideration of sources of potential bias that can lead to spurious causal relationships.

Tranexamic Acid for reduction of intra- and postoperative TRansfusion requirements in elective Abdominal surgery (TATRA): study protocol for an investigator-initiated, multicenter, double-blind, placebo-controlled, randomized superiority trial with two parallel groups.

Background: Intra- and postoperative hemorrhage is a relevant problem in major abdominal surgery, leading to acute anemia and necessitating transfusion of packed red blood cells. It is estimated that in 30% of abdominal surgeries, intra- or postoperative transfusion is required. Transfusion potentially has detrimental health effects and poses a considerable socioeconomic burden.

Methodology for Measuring Intraoperative Blood Loss: Protocol for a Scoping Review.

Background: At present, there is no standardized method for measuring intraoperative blood loss. Rather, the current data on existing methods is very broad and opaque. In many cases, blood loss during surgery is estimated visually by the surgeon.

Psychological traits of extreme sport participants: a scoping review.

Background: Extreme sports have increased in popularity, particularly over the past two decades. Theories explaining participation in extreme sports tend to focus on risk. Consequently, extreme sports participants are often characterized by an accentuated desire for risk and abnormal personal traits, but the positive aspects of extreme sports are often neglected in the literature.

Concurrent Validity and Reliability of a Free Smartphone Application for Evaluation of Jump Height.

: Jump test assessment is commonly used for physical tests, with different type of devices used for its evaluation. The purpose of the present study was to examine the validity and reliability of a freely accessible mobile application (VertVision, version 2.0.

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.

Injury Risk in Elite Young Male Soccer Players: A Review on the Impact of Growth, Maturation, and Workload.

Ribeiro, N, Martinho, DV, Pereira, JR, Rebelo, A, Monasterio, X, Gonzalo-Skok, O, Valente-dos-Santos, J, and Tavares, F. Injury risk in elite young male soccer players: a review on the impact of growth, maturation, and workload. J Strength Cond Res XX(X): 000-000, 2024-The long-term development of young male soccer players involves a prolonged period of significant adjustments, highlighting the importance of studying the complex interaction between dynamic variables, including workload, and inherent elements like growth and maturity.

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

DNA-based therapeutics have emerged as a revolutionary approach for addressing the treatment gap in rare inherited conditions by targeting the fundamental genetic causes of disease. Charcot-Marie-Tooth (CMT) disease, a group of inherited neuropathies, represents one of the most prevalent Mendelian disease groups in neurology and is characterized by diverse genetic aetiology. Axonal forms of CMT, known as CMT2, are caused by dominant mutations in >30 different genes that lead to degeneration of lower motor neuron axons.

Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia.

Hereditary Spastic Paraplegia (HSP) is a group of rare inherited disorders characterized by progressive weakness and spasticity of the legs. Recent newly discovered biallelic variants in the gene FICD were found in patients with a highly similar phenotype to early onset HSP. FICD encodes filamentation induced by cAMP domain protein.

Nutritional perspectives in female soccer: a scoping review.

Background: The purpose of the review was to evaluate the literature exploring nutritional habits and practices in female soccer players.

Methods: The PRISMA-ScR Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews were followed. Searches of Web of Science, PubMed and Scopus databases were conducted for studies exploring the nutritional habits and practices of female soccer players.

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous system. The diagnostic yield in demyelinating CMT (CMT1) is typically ∼80%-95%, of which at least 60% is due to the PMP22 gene duplication. The remainder of CMT1 is more genetically heterogeneous.

Multivisceral Oncological Resections Involving the Pancreas: Protocol for a Systematic Review and Meta-Analysis.

Background: With the continuous advancement of cancer treatments, a comprehensive analysis of the impact of multivisceral oncological pancreatic resections on morbidity, mortality, and long-term survival is currently lacking.

Objective: This manuscript presents the protocol for a systematic review and meta-analysis designed to summarize the existing evidence concerning the outcomes of multivisceral oncological pancreatic resections across diverse tumor entities.

Methods: We will conduct a systematic search of the PubMed or MEDLINE, Embase, Cochrane Library, CINAHL, and ClinicalTrials.