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Background: Autoimmune limbic encephalitis (ALE) is a rare inflammatory disorder characterised by a subacute onset, usually within weeks. The presence of multiple neuropsychiatric symptoms such as seizures, short-term memory deficits, anxiety and depression often leads to misdiagnosis as another medical condition, contributing to poor prognosis and reduced long-term survival., Case Description: A 60-year-old man, with no chronic illnesses, presented at the emergency department with daily episodes of palpitations, shivering, piloerection and a sense of impending doom lasting two months. Initially diagnosed with anxiety disorder and treated with venlafaxine 50 mg daily, he showed no improvement and developed memory loss. Hospitalised three months later, he exhibited both temporal and spatial disorientation, along with short-term memory loss. Key findings included elevated serum sedimentation rate, hyponatraemia, increased cerebrospinal fluid (CSF) protein levels and cranial magnetic resonance imaging evidence of bilateral temporal intra-parenchymal lesions, suggesting limbic encephalitis. After ruling out alternative diagnoses, screening of autoantibodies in the CSF was requested, which was positive for anti-LGI1 antibodies. The diagnosis of anti-LGI1 ALE was assumed, and treatment was initiated with significant clinical and imaging improvement., Conclusions: ALE's broad clinical spectrum contributes to underdiagnosis. Therefore, in patients with new onset of neuropsychiatric symptoms and no prior psychiatric history, ALE should be considered, as prompt diagnosis and treatment are pivotal to achieve a good prognosis., Learning Points: Autoimmune limbic encephalitis is a rare inflammatory neurological disease that affects the limbic system particularly the hippocampus, leading to memory impairment and neuropsychiatric symptoms.Due to its wide range of neuropsychiatric symptoms, the diagnosis of autoimmune limbic encephalitis may go unnoticed, leading to misdiagnosis as another medical disorder.Early diagnosis is essential to prevent potential neurological sequelae through appropriate treatment., Competing Interests: Conflicts of Interests: The Authors declare that there are no competing interests., (© EFIM 2024.)

Background: Continuous investment and systematic evaluation of program accomplishments are required to achieve excellence in ST-segment elevation myocardial infarction (STEMI) care, especially in resource-limited settings. Therefore, this study evaluates the impact of problem-driven interventions on reperfusion use rate in a long-term operating STEMI network from a low- to middle-income country., Methods: This is a healthcare improvement evaluation study of Salvador's public STEMI network in a quasi-experimental design, comparing data from 2009 to 2010 (pre-intervention) and 2019-2020 (post-intervention). There were evaluated all confirmed STEMI cases assisted in both periods. The interventions, implemented since 2017, included: expanding the support team, defining criteria to be a spoke, and initiating continuous education activities. The primary outcome was the rate of patients undergoing reperfusion, with secondary outcomes being time from door-to-ECG (D2E) and ECG-to-STEMI-team trigger (E2T)., Results: Over ten years, the network's coverage increased by 300,000 individuals, and expanded by 1,800 km 2 . A total of 885 records were analyzed, 287 in the pre-intervention group (182 men [63·4%]; mean [SD] age 62·1 [12·5] years) and 598 in the post-intervention group (356 men [59·5%]; mean [SD] age 61.9 [11·8] years). It was noticed a substantial increase in reperfusion delivery rate (90 [31%] vs. 431 [73%]; P  = 001) and reductions in time from D2E (159 [83-340] vs. 29 [15-63], P  = 001), and E2T (31 [21-44] vs. 16 [6-40], P  = 001)., Conclusion: The strategies adopted by Salvador's STEMI network were associated with significant improvements in the rate of patients undergoing reperfusion and in D2E and E2T. However, the mortality rate remains high., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Roriz, Ferreira, Pontes, Machado, Aguiar, Matos, Paiva Filho, Menezes and Andrade.)

Background: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagnosed before the age of 4. Currently, this condition is diagnosed by a mass spectrometry technique in neonatal screening, which has been implemented in Portugal since 2007; births before that were not screened for this entity., Case Description: We present a case of a 23-year-old woman referred to the internal medicine and neurology departments with a history of two hospital admissions for rhabdomyolysis at the age of 18, consanguineous parents, learning difficulties and multiple falls since the age of 8. In addition, the patient also had behavioural changes so she had psychological counselling at school, but lacked family support. Neurological examination showed mild proximal paraparesis, and spastic and paraparetic gait. The aetiological study revealed a pathological variant in homozygosity ARG1 and increased blood levels of arginine. Therefore, the diagnosis of hyperargininemia was confirmed., Conclusions: Compared to other urea cycle disorders, hyperargininemia is the rarest one. It is important to recognise the characteristic clinical features and diagnose it early because a favourable outcome can be achieved with appropriate treatment. This case shows a delayed diagnosis of hyperargininemia and highlights the importance of the internist's role in diagnosing rare diseases., Learning Points: Hyperargininemia is a rare hereditary metabolic disease of the urea cycle and the rarest of the disorders affecting this cycle.The diagnosis is almost always made within the first four years of life and very few are diagnosed in adulthood.Early diagnosis is essential to reduce the progression of neurological damage, through appropriate treatment., Competing Interests: Conflicts of Interests: The Authors declare that there are no competing interests., (© EFIM 2024.)

Desmin-related myopathies are characterized by progressive, distal skeletal muscle weakness, cardiomyopathy, and cardiac conduction disease caused by mutations of Desmin. A 43-year-old man with a history of heart transplant due to heart failure associated with restrictive cardiomyopathy, presented with slowly progressive distal muscle weakness in all four extremities for five years. On examination, predominantly distal quadriparesis and atrophy were noted, worse on the upper limbs, and reduced reflexes with normal sensation. His electromyographic studies were suggestive of subacute moderate motor axonal polyneuropathy secondary to the transplant immunosuppression. The patient's father died at 33 years due to heart failure, and his 37-year-old brother, who also had a heart transplant, had noticed the development of muscle atrophy. Another electroneuromyography performed on our index patient confirmed features consistent with a distal myopathy. A genetic panel for distal myopathies with cardiac involvement identified the pathological desmin gene mutation DES (NM_001927.4) - c.1360C>T; (p.(Arg454Trp)). Desmin-related myopathies are a diagnostic challenge. The beginning of neurological symptoms several years after the cardiac symptoms and the use of immunosuppressive agents may have contributed to the early misdiagnosis., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Dias et al.)

Background: Prognostic tools developed to stratify critically ill patients in Intensive Care Units (ICUs), are critical to predict those with higher risk of mortality in the first hours of admission. This study aims to evaluate the performance of the pShock score in critically ill patients admitted to the ICU with SARS-CoV-2 infection., Methods: Prospective observational analytical cohort study conducted between January 2020 and March 2021 in four general ICUs in Salvador, Brazil. Descriptive statistics were used to characterize the cohort and a logistic regression, followed by cross-validation, were performed to calibrate the score. A ROC curve analysis was used to assess accuracy of the models analyzed., Results: Six hundred five adult ICU patients were included in the study. The median age was 63 (IQR: 49-74) years with a mortality rate of 33.2% (201 patients). The calibrated pShock-CoV score performed well in prediction of ICU mortality (AUC of 0.80 [95% Confidence Interval (CI): 0.77-0.83; p -value < 0.0001])., Conclusions: The pShock-CoV score demonstrated robust discriminatory capacity and may assist in targeting scarce ICU resources during the COVID-19 pandemic to those critically ill patients most likely to benefit., Competing Interests: Authors TC, IF, RM, MA, KA, and BA were employed by fellows from Multinational Organization Network Sponsoring Translational and Epidemiological Research Initiative. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Carmo, Ferreira, Menezes, Pina, Oliveira, Telles, Machado, Aguiar, Caldas, Arriaga, Akrami, Filgueiras Filho and Andrade.)

The structure of humic substances (HSs) and the humification process are critical topics for understanding the dynamics of carbon on the planet. This study aimed to assess the structural patterns of 80 humic acid (HA) samples isolated from different soils, namely, Histosols, Ferralsols, Cambisols, Mollisols, Planosols and vermicompost, by spectroscopic characterization using solid-state 13 C nuclear magnetic resonance cross-polarization/magic angle spinning combined with chemometric techniques. All 80 HAs had a similar structural pattern, regardless of their source of origin, but they had different relative quantities of organic C species. The different structural amounts of the various organic C fractions generated different properties in each of the HAs. This explains why there were similarities in the HS functions but why the intensities of these functions varied among the samples from the different soil types and environments, confirming that HSs are a group of compounds with a structural identity distinct from the molecules that give rise to them. There appears to be no single definition for the humification process; therefore, for the soils from each source of origin, a specific humification process occurs that depends on the characteristics of the local environment. Humification can be understood as a process that is similar to a chemical reaction, where the key factor that determines the formation of the products is the structural characteristics of the reactants (organic substrates deposited in the soil). The degree to which the reaction progresses is governed by the reaction conditions (chemical, physical, and biological properties of the soil). The structural patterns for HSs obtained in this study justify the existence of HSs structured as self-assembled, hydrophilic and hydrophobic domains that, under certain conditions, can undergo transformations, altering the balance of organic carbon in the environment., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Medically important arboviruses such as dengue virus (DENV), Zika virus (ZIKV), and chikungunya virus (CHIKV) are primarily transmitted by the globally distributed mosquito Aedes aegypti. Increasing evidence suggests that the transmission of some viruses can be influenced by mosquito-specific and mosquito-borne viruses. Advancements in high-throughput sequencing (HTS) and bioinformatics have expanded our knowledge on the richness of viruses harbored by mosquitoes. HTS was used to characterize the presence of virus sequences in wild-caught adult Ae. aegypti from Tocantins (TO) state, Brazil. Samples of mosquitoes were collected in four cities of Tocantins state and submitted to RNA isolation, followed by sequencing at an Illumina HiSeq platform. Our results showed initially by Krona the presence of 3% of the sequenced reads belonging to the viral database. After further analysis, the virus sequences were found to have homology to two viral families found in insects Phenuiviridae and Metaviridae. Three possible viral strains including putative new viruses were detected and named Phasi Charoen-like phasivirus isolate To-1 (PCLV To-1), Aedes aegypti To virus 1 (AAToV1), and Aedes aegypti To virus 2 (AAToV2). The results presented in this work contribute to the growing knowledge about the diversity of viruses in mosquitoes and might be useful for future studies on the interaction between insect-specific viruses and arboviruses., (© 2021. Sociedade Brasileira de Microbiologia.)

Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Some neurologic syndromes are often associated with neoplasm, as a paraneoplastic disorder. Among them, namely, subacute cerebellar degeneration, sensory neuronopathy, dermatomyositis/polymyositis, Lambert-Eaton myasthenic syndrome and subacute motor neuronopathy, prove sooner or later to be harbouring a neoplasm, therefore a thorough clinical evaluation should be carried out to identify the primary tumour site. The AA present a brief review of these neurologic syndromes, illustrating the first three mentioned with clinical cases. A reference is made to the immunological associated aspects and their clinical importance.