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.

Seroepidemiology of Toxoplasma gondii in blood donors in Portugal.

Infection with the protozoan parasite Toxoplasma gondii is prevalent in animals and humans worldwide. The present study aimed to evaluate the prevalence of antibodies to T. gondii and associated risk factors among blood donors in Portugal. Serum samples were tested for the presence of anti-T. gondii immunoglobulin (Ig) G by a modified agglutination test (MAT). A written standardized questionnaire was used to collect sociodemographic and behavioural data from the blood donors. Out of 520 participants (median age: 39.5 years; interquartile range: 29.0-47.0), who attended blood collection sessions promoted by the Portuguese Institute for Blood and Transplantation (IPST), 198 (38.1%) were positive for anti-T. gondii IgG (95% confidence interval [CI]: 33.9-42.4%). Multiple logistic regression analysis revealed that ages of 46-55 years (odds ratio [OR] = 6.72; 95% CI = 3.40-13.28), and of 56-65 years (OR = 4.34; 95% CI = 1.73-10.86), having a lower education level (OR = 2.55; 95% CI = 1.45-4.49), living in the North (OR = 2.14; 95% CI = 1.25-3.65) and in the Centre regions (OR = 2.54; 95% CI = 1.36-4.76) of Portugal, and drinking water from untreated sources (OR = 2.46; 95% CI = 1.12-5.39) were risk factors for seropositivity to T. gondii. This study provides the first data on the seroprevalence of T. gondii in blood donors in Portugal, as well insights to sociodemographic and behavioural risk factors as the basis for future prevention programs.

New Middle Pleistocene hominin cranium from Gruta da Aroeira (Portugal).

The Middle Pleistocene is a crucial time period for studying human evolution in Europe, because it marks the appearance of both fossil hominins ancestral to the later Neandertals and the Acheulean technology. Nevertheless, European sites containing well-dated human remains associated with an Acheulean toolkit remain scarce. The earliest European hominin crania associated with Acheulean handaxes are at the sites of Arago, Atapuerca Sima de los Huesos (SH), and Swanscombe, dating to 400-500 ka (Marine Isotope Stage 11-12). The Atapuerca (SH) fossils and the Swanscombe cranium belong to the Neandertal clade, whereas the Arago hominins have been attributed to an incipient stage of Neandertal evolution, to Homo heidelbergensis, or to a subspecies of Homo erectus A recently discovered cranium (Aroeira 3) from the Gruta da Aroeira (Almonda karst system, Portugal) dating to 390-436 ka provides important evidence on the earliest European Acheulean-bearing hominins. This cranium is represented by most of the right half of a calvarium (with the exception of the missing occipital bone) and a fragmentary right maxilla preserving part of the nasal floor and two fragmentary molars. The combination of traits in the Aroeira 3 cranium augments the previously documented diversity in the European Middle Pleistocene fossil record.

Ranibizumab for the Treatment of Diabetic Macular Oedema in the Real-World Clinical Setting in Portugal: A Multicentre Study.

PURPOSE: The purpose of this study was to evaluate the 2-year outcome of ranibizumab for diabetic macular oedema (DME) in the real-life clinical practice of five ophthalmology departments of the National Health Service (NHS) in Portugal. METHODS: This is a retrospective multicentre study. The clinical records on consecutive patients with DME from clinical practice treated with 0.5 mg intravitreal ranibizumab and followed up for 24 months were reviewed. Efficacy outcomes comprised the change in best corrected visual acuity (BCVA) and central macular thickness (CMT) evaluated by SD-OCT. Multivariate regression analysis was performed to explore predictors of BCVA. RESULTS: A total of 122 eyes of 93 patients were included. The median BCVA change by 24 months was +5.0 letters (IQR 12.0) (p < 0.001) and the CMT change was -89.0 µm (IQR 165.0) (p < 0.001). By 24 months, 21.4% of the eyes had gained ≥15 letters and 8.6% had lost ≥15 letters. The median number of injections given during follow-up was 5.0 (IQR 4.0). A greater baseline CMT and a more disrupted status of the external limiting membrane were predictive of worse BCVA at 24 months (p ≤ 0.015). CONCLUSION: DME treatment with ranibizumab in the Portuguese NHS is associated with anatomic and functional improvement by 2 years; however, our results are below those reported in major clinical trials, and undertreatment is probably the cause.

Multiscale Poincaré plots for visualizing the structure of heartbeat time series.

BACKGROUND: Poincaré delay maps are widely used in the analysis of cardiac interbeat interval (RR) dynamics. To facilitate visualization of the structure of these time series, we introduce multiscale Poincaré (MSP) plots. METHODS: Starting with the original RR time series, the method employs a coarse-graining procedure to create a family of time series, each of which represents the system's dynamics in a different time scale. Next, the Poincaré plots are constructed for the original and the coarse-grained time series. Finally, as an optional adjunct, color can be added to each point to represent its normalized frequency. RESULTS: We illustrate the MSP method on simulated Gaussian white and 1/f noise time series. The MSP plots of 1/f noise time series reveal relative conservation of the phase space area over multiple time scales, while those of white noise show a marked reduction in area. We also show how MSP plots can be used to illustrate the loss of complexity when heartbeat time series from healthy subjects are compared with those from patients with chronic (congestive) heart failure syndrome or with atrial fibrillation. CONCLUSIONS: This generalized multiscale approach to Poincaré plots may be useful in visualizing other types of time series.

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.

BACKGROUND: Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, characterized by psychomotor retardation and hypotonia. Typically, elevation of T3 and delayed myelination in cerebral magnetic resonance imaging are found. CASE PRESENTATION: We present a 24-month-old boy, born from non-consanguineous healthy parents, with severe motor and cognitive delay and global hypotonia, being unable to hold head upright or sit without support. Deep tendon reflexes were absent bilaterally at the ankles. T3 was elevated and thyroxine slightly decreased, consistent with MCT8 deficiency. Genetic studies confirmed the diagnosis. CONCLUSIONS: Although a rare disease (MCT8 mutations have been reported in about 50 families all around the world), we illustrate the importance of excluding Allan-Herndon-Dudley syndrome in the evaluation of floppy male infants with development delay, without history of perinatal asphyxia. The simple evaluation of thyroid status, including T3, T4 and TSH can guide the diagnosis, avoiding a number of useless, expensive and invasive investigations and allowing appropriate genetic counseling to the affected families.

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.

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.

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.

Current management of inherited retinal degenerations in Portugal (IRD-PT survey).

Inherited retinal dystrophies/degenerations (IRDs) are the leading cause of visual impairment and incurable familial blindness in the Western world. Given the clinical and genetic heterogeneity, establishing a molecular diagnosis is especially relevant. The aim of this study was to perform the first nationwide survey to understand the prevalence and current management of IRDs in Portugal. A response was obtained from 26 healthcare providers (HCP) (76.5% response rate). Only 4 respondents reported not managing IRD patients. Most HCPs (68.1%) reported managing up to 100 patients, while three currently manage between 501 and 1000 patients. Based on the Portuguese population, an estimated IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals, was calculated. In most HCPs (86.3%), most patients are adults, and non-syndromic retinitis pigmentosa is the most frequent diagnosis. Only 4 HCPs currently use the national, web-based IRD registry (IRD-PT). However, all but one respondent expressed interest in participating in such a registry. Genetic testing is available in 54.5%, with 58.3% HCPs reporting solved rates between 61-80%, but 4 to 9 months to get a genetic test result in 83.4% of cases. Based on this survey, the prevalence of biallelic RPE65-associated disease in Portugal is 0.00031%, i.e., approximately 1:300,000 individuals. Data from this study provide vital background information on national differences in the diagnosis and management of IRD patients. Nationwide implementation of the IRD-PT registry should be encouraged and supported to provide population-based reference data and to identify patients eligible for current and future therapies.

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.

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.

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.

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.

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.

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.

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.

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.

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.