Neuroleptic Malignant Syndrome: An Intensive Care Unit Case of Exceptionally High Creatinine Kinase and Myoglobin Levels.

Neuroleptic Malignant Syndrome (NMS) is a rare, life-threatening neurologic emergency known to be related to the administration or sudden withdrawal of dopaminergic medications. The clinical course, symptoms, and bloodwork are very heterogeneous, making this syndrome difficult to identify. Thus, NMS is a diagnosis of exclusion. We present a case of severe NMS with exceptionally high creatinine kinase (CK) and myoglobin levels with unclear etiology and a challenging differential diagnosis. Also, our case stands out because it was serious, unique, and had a favorable outcome, which could contribute to the management of future similar cases.

Hemorrhagic Presentation in Primary Central Nervous System Lymphoma: A Case Study.

BACKGROUND Primary central nervous system diffuse large B-cell lymphoma (DLBCL) is an extremely aggressive brain disease that rarely affects immunocompetent non-elderly patients, particularly with hemorrhagic presentation. Brain magnetic resonance imaging (MRI) plays an important role in the diagnosis of this entity, which typically demonstrates restricted diffusion and a T2 hypointense appearance, suggesting hypercellularity. CASE REPORT A 44-year-old man came to the emergency department with a persistent and treatment-resistant bilateral frontal headache that had been bothering him for the past 3 weeks. Upon conducting a neurological assessment, the patient displayed temporal disorientation and incoherent speech, but without any observable motor deficits. A non-contrast enhanced brain computed tomography scan was carried out, revealing a hyperattenuating, space-occupying lesion and hemorrhage in the left hemisphere of the brain. Subsequently, brain MRI demonstrated hypointense signal on T2-weighted images, restricted diffusion, and homogeneous lesional contrast enhancement, suggesting a very cellular expansive lesion with hemorrhage. To establish a definitive diagnosis, a brain biopsy was undertaken, confirming the presence of DLBCL of the primary central nervous system (germinal center phenotype). CONCLUSIONS Hemorrhagic presentation of primary central nervous system DLBCL occurs very rarely, particularly in non-elderly immunocompetent patients. Brain MRI plays an important role in the diagnosis of this entity, which allows differentiation from high-grade glial or other lesions that present more frequently with hemorrhage. Therefore, it is crucial to suspect lymphoma before surgical intervention for appropriate patient management.

Efficacy of bacterial cellulose hydrogel in microfiber removal from contaminated waters: A sustainable approach to wastewater treatment.

Microfibers (MFs), the dominant form of microplastics in ecosystems, pose a significant environmental risk due to the inadequacy of existing wastewater treatments to remove them. Recognising the need to develop sustainable solutions to tackle this environmental challenge, this research aimed to find an eco-friendly solution to the pervasive problem of MFs contaminating water bodies. Unused remnants of bacterial cellulose (BC) were ground to form a hydrogel-form of bacterial cellulose (BCH) and used as a potential bioflocculant for polyacrylonitrile MFs. The flocculation efficiency was evaluated across various operational and environmental factors, employing response surface methodology computational modelling to elucidate and model their impact on the process. The results revealed that the BCH:MFs ratio and mixing intensity were key factors in flocculation efficiency, with BCH resilient across a range of environmental conditions, achieving a 93.6 % average removal rate. The BCH's strong retention of MFs released only 8.3 % of the MFs, after a 24-hour wash, and the flocculation tests in contaminated wastewater and chlorinated water yielded 89.3 % and 86.1 % efficiency, respectively. Therefore, BCH presents a viable, sustainable, and effective approach for removing MFs from MFs-contaminated water, exhibiting exceptional flocculation performance and adaptability. This pioneer study using BCH as a bioflocculant for MFs removal sets a new standard in sustainable wastewater treatment, catalysing research on fibrous pollutant mitigation for environmental protection.

Budd-Chiari Syndrome Caused by Polycythemia Vera: A Case Report.

Budd-Chiari syndrome (BCS) is a rare condition characterized by the obstruction of hepatic venous outflow. It has various potential etiologies, with myeloproliferative neoplasms representing the most prevalent pathogenic association. Here, we present the case of a 51-year-old male who manifested abdominal pain and ascites. Subsequent clinical investigation revealed the presence of BCS secondary to a myeloproliferative syndrome, specifically polycythemia vera. This case emphasizes the importance of diagnosing BCS and conducting a thorough investigation into its underlying etiology.

Varicella-Zoster Virus: A Case of Encephalitis.

Infection with the varicella-zoster virus (VZV) is very common worldwide and is one of the main causes of infectious encephalitis. Immunosuppressed patients are at increased risk of severe disease and central nervous system (CNS) involvement. We report the case of a 43-year-old man with HIV infection and poor adherence to antiretroviral therapy who presented to the emergency department (ER) with complaints of diplopia and a frontal headache, referring to having a child with chickenpox. Brain magnetic resonance imaging revealed three hyperintense T2-weighted lesions surrounded by edema in the right sublenticular, left occipital and left parietal regions, and VZV DNA was detected in the cerebrospinal fluid (CSF). After admitting the diagnosis of VZV encephalitis, the patient was treated with intravenous acyclovir, with clinical improvement and a favorable outcome.

Stress Cardiomyopathy as a Complication of SARS-CoV-2 Infection.

The worldwide spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in early 2020 led to the coronavirus disease 2019 (COVID-19) pandemic. Acute lung diseases, such as COVID-19 pneumonia, can trigger stress cardiomyopathy, raising concerns about potential cardiovascular complications related to these diseases. The current case involved a 72-year-old man with SARS-CoV-2 infection who was experiencing dyspnea, desaturation, and oppressive retrosternal chest pain. On his admission to the hospital, an electrocardiogram demonstrated sinus tachycardia, negative T waves in leads V4-V6, and slight ST-segment elevation in the same precordial leads. The patient also had an increased troponin I value and worsening of his baseline respiratory failure, which required starting noninvasive ventilation. The echocardiogram showed moderately depressed left ventricular systolic function and apical ballooning. The echocardiographic changes resolved during hospitalization without directed therapeutic intervention. We diagnosed Takotsubo syndrome associated with SARS-CoV-2 infection; however, the pathophysiological disruption remains to be clarified.

Morphologic and Genetic Analysis of Synhimantus (Synhimantus) laticeps from a Long-Eared Owl (Asio otus).

The long-eared owl (Asio otus) is a medium-sized owl species that is well-distributed in almost all of the territories in Portugal. Nematodes were found in the oral cavity of a long-eared owl (A. otus) admitted to CRASSA (Wildlife Rehabilitation Centre of Santo André). During a physical exam and stabilization of the bird, five nematodes were collected. The worms were examined and measured under light microscopy, and photos were taken. After a morphological analysis was conducted, all the nematodes (five females) were identified as Synhimantus (Synhimantus) laticeps. Two specimens were subjected to molecular analysis, which confirmed the result. This study provides a combined morphological and genetic approach to S. laticeps. To the authors' best knowledge, this is the first report including genetic sequencing of S. laticeps in a long-eared owl (A. otus) from Portugal.

Bilateral Renal Artery Thrombosis: A Case of Successful Kidney Recovery After Prolonged Anuria.

Anuria suggests complete urinary tract obstruction, acute cortical necrosis, or massive vascular occlusion. We report a case of bilateral renal artery thrombosis in an 87-year-old woman admitted to the emergency department with abdominal pain, diarrhea, and anuria in the last 24 hours. Serum creatinine at admission was 5.87 mg/dl and urea was 100 mg/dl. Computed tomography showed renal artery thrombosis and partial splenic infarction. A conservative approach was performed with anticoagulation with warfarin. The patient recovered renal function and urine output months later.

Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.

Pathogenic variants in the genes encoding serine palmitoyl transferase (SPTLC1 or SPTLC2) are the most common causes of the rare peripheral nerve disorder Hereditary Sensory Neuropathy Type 1 (HSN1). Macular telangiectasia type 2 (MacTel), a retinal disorder associated with disordered serine-glycine metabolism, has been described in some patients with HSN1. This study aims to further investigate this association in a cohort of people with HSN1. Fourteen patients with a clinically and genetically confirmed diagnosis of HSN1 from the National Hospital for Neurology and Neurosurgery (NHNN, University College London Hospitals NHS Foundation Trust, London, United Kingdom) were recruited to the MacTel Registry, between July 2018 and April 2019. Two additional patients were identified from the dataset of the international clinical registry study (www.lmri.net). Ocular examination included fundus autofluorescence, blue light and infrared reflectance, macular pigment optical density mapping and optical coherence tomography. Twelve patients had a pathogenic variant in the SPTLC1 gene, with p.Cys133Trp in 11 cases (92%) and p.Cys133Tyr in one case (8%). Four patients had a variant in the SPTLC2 gene. None of the patients showed clinical evidence of MacTel. The link between HSN1 and MacTel seems more complex than can solely be explained by the genetic variants. An extension of the spectrum of SPTLC1/2-related disease with phenotypic pleiotropy is proposed. HSN1 patients should be screened for visual symptoms and referred for specialist retinal screening, but the association of the two diseases is likely to be variable and remains unexplained.

E-learning is a burden for the deaf and hard of hearing.

When considering deaf and hard of hearing (DHH) population, research recognizes that fatigue due to communication challenges and multi-focal attention allocation is a significant concern. Given the putative heightened demands of distance learning on deaf and hard of hearing students, we investigate how an online environment might differently affect deaf and hard of hearing participants, compared to hearing participants, Portuguese Sign Language (PSL) users and non-users. Our findings show that the deaf and hard of hearing group present higher values in the post-task fatigue rates with significant differences from the hearing group (non-PSL users). Furthermore, our results revealed an association between post-task fatigue rates and lower performance scores for the deaf and hard of hearing group, and the gap is significantly bigger when compared with the hearing group (non-PSL users). We also found evidence for high levels of post-task fatigue and lower performance scores in the hearing group PSL users. These novel data contribute to the discussion concerning of the pros and cons of digital migration and help redesign more accessible and equitable methodologies and approaches, especially in the DHH educational field, ultimately supporting policymakers in redefining optimal learning strategies.

The 2021 Portuguese Society of Ophthalmology joint guidelines with Paediatric Rheumatology on the screening, monitoring and medical treatment of juvenile idiopathic arthritis-associated uveitis.

AIM: To develop the first Ophthalmology joint guidelines with Paediatric Rheumatology with recommendations on the screening, monitoring and medical treatment of juvenile idiopathic arthritis-associated uveitis (JIA-U), endorsed by the Portuguese Society of Ophthalmology (SPO). METHODS: A systematic literature review was conducted to include publications up to July 14th 2020, with no language restrictions, in order to include all the international position papers/guidelines concerning the medical management of JIA-U and randomised clinical trials assessing the efficacy and safety of medical treatment in this field. We searched through MEDLINE (PubMed), Scopus, Web of Science and Cochrane Library. The Delphi modified technique to generate consensus was used. Preliminary evidence statements were subject to an anonymous agreement assessment and discussion process using an online survey, followed by further discussion and update at a national meeting. A draft of the manuscript with all recommendations was then circulated among all participants and suggestions were incorporated. The final version was again circulated before publication. RESULTS: Twenty-six recommendations were developed focusing on the following topics: general management (3), screening and follow-up of uveitis (4), treatment (17) and health education in JIA-U among patients and families (2). CONCLUSION: These guidelines were designed to support the shared medical management of patients with JIA-U and emphasize the need for a multidisciplinary approach between Ophthalmology and Paediatric Rheumatology regarding the comprehensive care of JIA-U. We acknowledge that updating these recommendations will be warranted in the future, as more evidence becomes available. KEY-WORDS: juvenile idiopathic arthritis, uveitis, biological treatment, conventional immunosuppressive treatment, multidisciplinary management, guidelines, consensus, review, Delphi Technique.

First report of human Thelazia callipaeda infection in Portugal.

The zoonotic parasitic nematode Thelazia callipaeda, also known as the oriental eye worm, is endemic in several European countries, including Portugal. Infections may result in ocular disease in domestic and wild animals as well as humans, with more or less severe manifestations. We report the first human case of ocular thelaziosis by T. callipaeda in Portugal, a country where the parasite had already been found to infect dogs, cats, red foxes, wild rabbits and a beech marten. An 80-year-old patient from east-central Portugal, who had been suffering from tearing for a few years, had whitish filiform fragments removed from the left eye. Polymerase chain reaction of partial cytochrome c oxidase subunit 1 and 18S small subunit rRNA genes followed by bidirectional sequencing and BLAST analysis confirmed T. callipaeda haplotype 1, the only haplotype previously reported in Europe. The endemicity of T. callipaeda in domestic and wild animals in east-central Portugal makes it very likely that infection of the human patient had occurred locally. In east-central and other geographical areas of Portugal, veterinarians and physicians, especially ophthalmologists, should regard T. callipaeda as a cause of ocular pathology in animals and humans.

Co-Exposure with an Invasive Seaweed Exudate Increases Toxicity of Polyamide Microplastics in the Marine Mussel Mytilus galloprovincialis.

Plastic pollution and invasive species are recognised as pervasive threats to marine biodiversity. However, despite the extensive on-going research on microplastics' effects in the biota, knowledge on their combination with additional stressors is still limited. This study investigates the effects of polyamide microplastics (PA-MPs, 1 mg/L), alone and in combination with the toxic exudate from the invasive red seaweed Asparagopsis armata (2%), after a 96 h exposure, in the mussel Mytilus galloprovincialis. Biochemical responses associated with oxidative stress and damage, neurotoxicity, and energy metabolism were evaluated in different tissues (gills, digestive gland, and muscle). Byssus production and PA-MP accumulation were also assessed. Results demonstrated that PA-MPs accumulated the most in the digestive gland of mussels under PA-MP and exudate co-exposure. Furthermore, the combination of stressors also resulted in oxidative damage at the protein level in the gills as well as in a significant reduction in byssus production. Metabolic capacity increased in both PA-MP treatments, consequently affecting the energy balance in mussels under combined stress. Overall, results show a potential increase of PA-MPs toxicity in the presence of A. armata exudate, highlighting the importance of assessing the impact of microplastics in realistic scenarios, specifically in combination with co-occurring stressors, such as invasive species.

Unveiling teachers' beliefs on visual cognition and learning styles of deaf and hard of hearing students: A Portuguese-Swedish study.

Vision is considered a privileged sensory channel for deaf and hard of hearing (DHH) students to learn, and, naturally, they recognize themselves as visual learners. This assumption also seems widespread among schoolteachers, which led us to analyse the intersection between teachers' beliefs on deaf and hard of hearing students' academic achievement, visual skills, attentional difficulties, and the perceived importance of image display in class. An online survey was designed to analyse the beliefs of the schoolteachers about the deaf and hard of hearing students learning in educational settings from Portugal and Sweden. Participated 133 teachers, 70 Portuguese and 63 Swedish, from the preschool to the end of mandatory education (ages 3-18) with several years of experience. The content analysis and the computed SPSS statistical significance tests reveal that surveyed teachers believe that deaf and hard of hearing students have better visual skills when compared with their hearing peers yet show divergent beliefs about visual attentional processes. Within the teachers' perceptions on learning barriers to DHH students, the distractibility and cognitive effort factors were highlighted, among communicational difficulties in class. Conclusions about the prevalence of learning misconceptions in teachers from both countries analysed, corroborate previous studies on neuromyths in education, and bring novelty to Deaf Education field. The work of translation of scientific knowledge, teacher training updating, and partnership between researchers and educators are also urgently needed in special education.

Novel CACNA1S mutation in hypokalaemic periodic paralysis.

A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory tests revealed severe hypokalaemia and hypokaluria. Symptoms resolution occurred after potassium replacement. The diagnosis of hypokalaemic periodic paralysis (HPP) was confirmed by genetic testing, which revealed a not previously described mutation in CACNA1S gene (c.3715C>G p.Arg1239Gly). HPP is a rare neuromuscular disorder that causes episodic attacks of flaccid paralysis with concomitant hypokalaemia. Primary forms of the disease are skeletal muscle ion channelopathies. HPP occurs due to a problem in potassium distribution rather than a total body potassium deficiency. Therefore potassium replacement should be carefully performed because of the risk of rebound hyperkalaemia. Knowing this rare entity is important in order to avoid diagnostic delays and so that proper treatment can be initiated to reduce morbidity and mortality.

Granulomatosis With Polyangiitis: A Clinical Case.

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is characterized by inflammation and the destruction of small- and medium-caliber blood vessels in the presence of circulating ANCAs. Anti-neutrophil cytoplasmic antibody-associated vasculitis predominantly affects the lung and kidney with a multifactorial pathogenesis. This case refers to a 55-year-old woman with constitutional symptoms, hypoacusis, cough, and bloody sputum. Physical examination revealed polypnea and decreased lung auscultation at the bases; blood work showed elevated inflammatory parameters, acute kidney injury, and hematuria; pulmonary computed tomography revealed areas of peribronchial thickening in both lungs; immunological study resulted in positive ANCA-PR3. Corticotherapy and double immunosuppression with cyclophosphamide and rituximab were initiated, which resulted in clinical and analytical improvement. This case of granulomatosis with polyangiitis (GPA), with pulmonary, renal, cutaneous, and ear involvement, allows us to demonstrate the importance of timely clinical suspicion and initiation of immunosuppression for a favorable disease prognosis.

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.

BACKGROUND: Blau syndrome (BS) is a rare dominantly-inherited autoinflammatory disorder characterized by the triad of arthritis, uveitis and dermatitis that is consequence of gain-of-function NOD2 mutations. We describe the clinical features and genetic basis of a family with two affected members in consecutive generations affected with childhood onset arthritis and uveitis. MATERIALS AND METHODS: Clinical features were retrospectively collected from clinical records. Genetic studies were performed using the Sanger method of DNA sequencing. RESULTS: The proband is a 44 years-old female, who was diagnosed with juvenile onset arthritis at the age of 9 years. She subsequently developed uveitis at age 12 and since then she was managed between the uveitis and rheumatology services. The proband's daughter developed episcleritis at the age of 7 years, and arthritis with bilateral intermediate uveitis two years later. NOD2 analyses revealed in both patients the heterozygous c.1494A>C transversion, predicted to lead the novel, missense p.E498D variant in the NOD2 protein. Additional studies including databases searches and in silico bioinformatic predictions strongly support the "likely pathogenic" classification for this novel variant. CONCLUSIONS: We report a novel pathogenic NOD2 variant in a multiplex family with clinical features compatible with the BS diagnosis. This condition is inherited as a dominant trait in its familial form and should be considered in patients with granulomatous uveitis in association with arthritis and/or dermatitis. Further insight into NOD2 variants and their downstream effects may have implications in the treatment of BS and other inflammatory granulomatous diseases.

Reliability of Retinal Pathology Quantification in Age-Related Macular Degeneration: Implications for Clinical Trials and Machine Learning Applications.

Purpose: To investigate the interreader agreement for grading of retinal alterations in age-related macular degeneration (AMD) using a reading center setting. Methods: In this cross-sectional case series, spectral-domain optical coherence tomography (OCT; Topcon 3D OCT, Tokyo, Japan) scans of 112 eyes of 112 patients with neovascular AMD (56 treatment naive, 56 after three anti-vascular endothelial growth factor injections) were analyzed by four independent readers. Imaging features specific for AMD were annotated using a novel custom-built annotation platform. Dice score, Bland-Altman plots, coefficients of repeatability, coefficients of variation, and intraclass correlation coefficients were assessed. Results: Loss of ellipsoid zone, pigment epithelium detachment, subretinal fluid, and drusen were the most abundant features in our cohort. Subretinal fluid, intraretinal fluid, hypertransmission, descent of the outer plexiform layer, and pigment epithelium detachment showed highest interreader agreement, while detection and measures of loss of ellipsoid zone and retinal pigment epithelium were more variable. The agreement on the size and location of the respective annotation was more consistent throughout all features. Conclusions: The interreader agreement depended on the respective OCT-based feature. A selection of reliable features might provide suitable surrogate markers for disease progression and possible treatment effects focusing on different disease stages. Translational Relevance: This might give opportunities for a more time- and cost-effective patient assessment and improved decision making as well as have implications for clinical trials and training machine learning algorithms.

Quantification of Key Retinal Features in Early and Late Age-Related Macular Degeneration Using Deep Learning.

PURPOSE: We sought to develop and validate a deep learning model for segmentation of 13 features associated with neovascular and atrophic age-related macular degeneration (AMD). DESIGN: Development and validation of a deep-learning model for feature segmentation. METHODS: Data for model development were obtained from 307 optical coherence tomography volumes. Eight experienced graders manually delineated all abnormalities in 2712 B-scans. A deep neural network was trained with these data to perform voxel-level segmentation of the 13 most common abnormalities (features). For evaluation, 112 B-scans from 112 patients with a diagnosis of neovascular AMD were annotated by 4 independent observers. The main outcome measures were Dice score, intraclass correlation coefficient, and free-response receiver operating characteristic curve. RESULTS: On 11 of 13 features, the model obtained a mean Dice score of 0.63 ± 0.15, compared with 0.61 ± 0.17 for the observers. The mean intraclass correlation coefficient for the model was 0.66 ± 0.22, compared with 0.62 ± 0.21 for the observers. Two features were not evaluated quantitatively because of a lack of data. Free-response receiver operating characteristic analysis demonstrated that the model scored similar or higher sensitivity per false positives compared with the observers. CONCLUSIONS: The quality of the automatic segmentation matches that of experienced graders for most features, exceeding human performance for some features. The quantified parameters provided by the model can be used in the current clinical routine and open possibilities for further research into treatment response outside clinical trials.

Early evidence of fire in south-western Europe: the Acheulean site of Gruta da Aroeira (Torres Novas, Portugal).

The site of Gruta da Aroeira (Torres Novas, Portugal), with evidence of human occupancy dating to ca. 400 ka (Marine Isotope Stage 11), is one of the very few Middle Pleistocene localities to have provided a fossil hominin cranium associated with Acheulean bifaces in a cave context. The multi-analytic study reported here of the by-products of burning recorded in layer X suggests the presence of anthropogenic fires at the site, among the oldest such evidence in south-western Europe. The burnt material consists of bone, charcoal and, possibly, quartzite cobbles. These finds were made in a small area of the cave and in two separate occupation horizons. Our results add to our still-limited knowledge about the controlled use of fire in the Lower Palaeolithic and contribute to ongoing debates on the behavioural complexity of the Acheulean of Europe.