Porto biomedical journal最新文献

Background: Hemoglobinopathies and thalassemias are widely prevalent autosomal inherited recessive disorders of the structure and synthesis of hemoglobin, respectively. Given the regional heterogeneity of these disorders, this study was undertaken to elucidate the patterns and prevalence of these disorders from this region.

Methods: This was a tertiary-care hospital-based study in southern India over 4 years. Screening for hemoglobin (Hb) disorders was done using Hb high-performance liquid chromatography in patients based on initial screening of complete blood count parameters and for clinically indicated cases.

Results: A normal Hb HPLC pattern was observed in 404 (72.1%) and abnormal in 156 (27.9%) of 560 cases studied. The abnormalities seen were heterozygous β-thalassemia in 73 (46.8%), homozygous β-thalassemia in 19 (12.2%), heterozygous α-thalassemia in 7 (4.5%), HbH disease and heterozygous δβ-thalassemia in 1 (0.6%) each, sickle cell trait in 9 (5.8%), sickle cell anemia in 8 (5.1%), sickle β-thalassemia in 17 (10.9%), HbS+ Hb D-Punjab in 1 (0.6%), heterozygous HbE in 6 (3.8%), homozygous HbE in 2 (1.3%), HbE β-thalassemia in 3 (1.9%), Hb J-Meerut in 1 (0.6%), Hb Kirksey in 4 (2.6%), unknown α-hemoglobinopathy in 2 (1.3%), and Hb Lepore in 2 (1.3%) cases. Most of the patients were from the neighboring districts, and some were referred from other states.

Conclusion: The most common hemoglobin disorders were heterozygous β-thalassemia in 73 cases (46.8%) and sickle hemoglobinopathy in 35 cases (22.4%). A heterogeneous group of hemoglobin disorders, including uncommon α-hemoglobinopathies, was found in the study population, likely due to the referral of patients from various regions.

Light chain amyloidosis (AL) is a complex disorder defined by the extracellular deposition of insoluble amyloid fibrils formed by intact or fragmented immunoglobulin light chains, leading to cell dysfunction, rapid organ deterioration, and, ultimately, death. Although the clinical presentation of AL is directly connected to organ involvement, signs and symptoms of AL are frequently nonspecific, misinterpreted, and late recognized. Thus, an early diagnosis combined with effective therapies to cease disease progression and rescue organ function is essential. The aim of this study was to assess the knowledge and characterize the current clinical practice regarding AL diagnosis and referral among Portuguese physicians. A Delphi-like panel (one round only) with a group of national experts from different medical specialties (cardiology, hematology, internal medicine, nephrology, and neurology) was carried out online, in which 30 statements were classified using a 4-point Likert scale. For each statement, the consensus level was set at 70% for "fully agree/disagree" and the majority level was defined as >70% in agreement or disagreement. Although the results suggest the existence of adequate general knowledge of AL amyloidosis, they also disclosed the necessity to raise awareness for this disease. Overall, this Delphi panel revealed a high lack of consensus regarding the diagnosis and early management of patients with AL among different specialties despite the qualified majority obtained in 26 statements. An optimized strategy for AL early diagnosis, transversal to several medical fields, is urgently needed. Moreover, referral centers with access to diagnostic technology and a network of diverse specialties should be established to foster an early diagnosis and better disease approach to boost the possibility of a better outcome for patients with AL.

The cardiovascular response to exercise has long been a focus of interest. Over a century ago, the first descriptions of electrocardiographic changes occurring during exercise highlighted the possible relevance of this dynamic assessment. In this background, the inception of the Bruce protocol circa 60 years ago allowed for a major leap in this field by providing a standardized framework with which to address this issue, by means of an integrated and structured methodology. Since then, exercise stress testing with electrocardiographic monitoring (ExECG) has become one of the most widely appraised tests in cardiovascular medicine. Notably, past few decades have been profoundly marked by substantial advances in the approach to cardiovascular disease, challenging prior notions concerning both its physiopathology and overall management. Among these, the ever-evolving presentations of cardiovascular disease coupled with the development and implementation of several novel diagnostic modalities (both invasive and noninvasive) has led to a shifting paradigm in the application of ExECG. This technique, however, has continuously shown to be of added value across various momentums of the cardiovascular continuum, as depicted in several contemporary guidelines. This review provides a pragmatical reflexion on the development of ExECG, presenting a comprehensive overview concerning the current role of this modality, its challenges, and its future perspectives.

Objectives: Obesity and nonalcoholic fatty liver disease (NAFLD) are common worldwide health problems with a strong relationship in between. NAFLD is currently the most common cause of abnormal liver function tests (LFT) because of obesity pandemic. The question is NAFLD the only player of abnormal LFT in obesity?

Methodology: This article reviews the most important topics regarding the derangements of LFT in obesity through a PubMed search strategy for all English-language literature.

Results: The reported abnormal LFT in obesity were increased serum levels of transaminases (alanine aminotransaminase, aspartate aminotransaminase), gamma glutamyl transferase, and alkaline phosphatase and decreased serum levels of bilirubin and albumin. Besides novel potential hepatic markers of NAFLD/NASH such as triglycerides/high-density lipoprotein cholesterol ratio, sex hormone-binding globulin, fibroblast growth factor 21, and markers of hepatocyte apoptosis i.e. cytokeratin 18 and microribonucleic acids (miRNAs). Beyond NAFLD, there are other underlying players for the abnormal LFT in obesity such as oxidative stress, inflammation, and insulin resistance.

Conclusion: Derangements of LFT in obesity are attributed to NAFLD but also to obesity itself and its related oxidative stress, insulin resistance, and chronic inflammatory state. Abnormal LFT predict more than just liver disease.

Chemotherapy-induced nausea and vomiting (CINV) and radiotherapy-induced nausea and vomiting (RINV) strongly affect the quality of life of patients with cancer. Inadequate antiemetic control leads to the decline of patients' quality of life, increases rescue interventions, and may even compromise adherence to cancer treatment. Although there are international recommendations for controlling CINV and RINV, these recommendations focus mainly on pharmacological management, with scarce information on additional measures that patients may adopt. Moreover, the prophylaxis and management of CINV/RINV are not always applied. Thus, we identified the need to systematize the strategies for preventing and managing CINV/RINV and the associated risk factors to implement and promote effective prophylactic antiemetic regimens therapy in patients with cancer. This review sought to create a set of practical recommendations for managing and controlling CINV/RINV, according to the current international recommendations for antiemetic therapy and the main risk factors. Conclusively, we intended to produce a patient-centered guidance document for health care professionals focused on the awareness, monitoring, and treatment of CINV/RINV.