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1.
Cureus ; 16(6): e62074, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38989326

ABSTRACT

Tuberculosis (TB) is one of the leading infectious causes of morbidity and mortality worldwide. Either in its pulmonary (PTB) or extrapulmonary forms (EPTB), TB has a wide variety of manifestations, including hematological ones like thrombocytosis (especially in PTB) and thrombocytopenia (mainly with disseminated or miliary TB). Hematological manifestations are infrequently presenting features of TB, and within them, immune thrombocytopenic purpura (ITP)-associated TB is one of the rarest presenting features. We report a case of a 22-year-old woman with a diagnosis of ganglionic tuberculosis (GTB) presenting with ITP. The therapeutic approach was challenging and included the use, originally, of intravenous immunoglobulin 30 mg/day for five days and, posteriorly, of high-dose corticosteroids (dexamethasone 40 mg/day) and anti-tubercular therapy with satisfactory outcomes.

2.
Nat Commun ; 15(1): 5583, 2024 Jul 03.
Article in English | MEDLINE | ID: mdl-38961085

ABSTRACT

The function of many bacterial processes depends on the formation of functional membrane microdomains (FMMs), which resemble the lipid rafts of eukaryotic cells. However, the mechanism and the biological function of these membrane microdomains remain unclear. Here, we show that FMMs in the pathogen methicillin-resistant Staphylococcus aureus (MRSA) are dedicated to confining and stabilizing proteins unfolded due to cellular stress. The FMM scaffold protein flotillin forms a clamp-shaped oligomer that holds unfolded proteins, stabilizing them and favoring their correct folding. This process does not impose a direct energy cost on the cell and is crucial to survival of ATP-depleted bacteria, and thus to pathogenesis. Consequently, FMM disassembling causes the accumulation of unfolded proteins, which compromise MRSA viability during infection and cause penicillin re-sensitization due to PBP2a unfolding. Thus, our results indicate that FMMs mediate ATP-independent stabilization of unfolded proteins, which is essential for bacterial viability during infection.


Subject(s)
Bacterial Proteins , Membrane Microdomains , Membrane Proteins , Methicillin-Resistant Staphylococcus aureus , Membrane Proteins/metabolism , Membrane Microdomains/metabolism , Methicillin-Resistant Staphylococcus aureus/metabolism , Bacterial Proteins/metabolism , Protein Unfolding , Adenosine Triphosphate/metabolism , Penicillin-Binding Proteins/metabolism , Penicillin-Binding Proteins/genetics , Penicillin-Binding Proteins/chemistry , Humans , Protein Stability , Staphylococcal Infections/microbiology , Staphylococcal Infections/metabolism , Animals , Mice
3.
Eur J Case Rep Intern Med ; 11(5): 004416, 2024.
Article in English | MEDLINE | ID: mdl-38715887

ABSTRACT

Syphilis, a disease caused by the bacteria Treponema pallidum, has a multitude of clinical manifestations and is classified into primary syphilis, secondary syphilis and tertiary syphilis, based on clinical presentations and the time elapsed since the primary infection. The secondary stage of the disease can affect multiple organs and systems, and some of these involvements may be general and non-specific, justifying its name as 'the great imitator'. We present a case of a 30-year-old woman with a history of painful neck lymph nodes with progressive enlargement, persistent headache, weight loss, myalgia and alopecia. During investigations, stomatitis on the dorsal face of the tongue developed. A secondary study showed serum positive for rapid plasma reagin (RPR) and T. pallidum haemagglutination (TPHA), negative RPR in cerebrospinal fluid and normal MRI, thus the diagnosis of secondary syphilis was made. The patient was treated with a single dose of penicillin with complete resolution of symptoms. The case highlights the need for an exhaustive clinical examination, especially in cases presenting with non-specific and general symptoms, and raises awareness for this disease which has increased its prevalence in the last decades. LEARNING POINTS: Syphilis is a resurgent infection with increasing prevalence, and its manifestations in the secondary stage of the disease are general and non-specific, being able to affect every organ system.The oral mucosa may be involved at any stage of the disease and the tongue, often a neglected organ, can be particularly affected and should be routinely observed.The internist, integrating a cornerstone speciality able to manage and diagnose systemic diseases, must be aware of the individual aspects of the physical examination, notably the appreciation and interpretation of each clue and sign found.

4.
Int J Mol Sci ; 25(10)2024 May 10.
Article in English | MEDLINE | ID: mdl-38791254

ABSTRACT

Mycoses are one of the major causes of morbidity/mortality among immunocompromised individuals. Considering the importance of these infections, the World Health Organization (WHO) defined a priority list of fungi for health in 2022 that include Candida albicans as belonging to the critical priority group and Pichia kudriavzevii (Candida krusei) to the medium priority group. The existence of few available antifungal drugs, their high toxicity, the acquired fungal resistance, and the appearance of new species with a broader spectrum of resistance, points out the need for searching for new antifungals, preferably with new and multiple mechanisms of action. The cyclam salt H4[H2(4-CF3PhCH2)2Cyclam]Cl4 was previously tested against several fungi and revealed an interesting activity, with minimal inhibitory concentration (MIC) values of 8 µg/mL for C. krusei and of 128 µg/mL for C. albicans. The main objective of the present work was to deeply understand the mechanisms involved in its antifungal activity. The effects of the cyclam salt on yeast metabolic viability (resazurin reduction assay), yeast mitochondrial function (JC-1 probe), production of reactive oxygen species (DCFH-DA probe) and on intracellular ATP levels (luciferin/luciferase assay) were evaluated. H4[H2(4-CF3PhCH2)2Cyclam]Cl4 induced a significant decrease in the metabolic activity of both C. albicans and C. krusei, an increase in Reactive Oxygen Species (ROS) production, and an impaired mitochondrial function. The latter was observed by the depolarization of the mitochondrial membrane and decrease in ATP intracellular levels, mechanisms that seems to be involved in the antifungal activity of H4[H2(4-CF3PhCH2)2Cyclam]Cl4. The interference of the cyclam salt with human cells revealed a CC50 value against HEK-293 embryonic kidney cells of 1.1 µg/mL and a HC10 value against human red blood cells of 0.8 µg/mL.


Subject(s)
Antifungal Agents , Candida albicans , Candida , Microbial Sensitivity Tests , Reactive Oxygen Species , Antifungal Agents/pharmacology , Candida albicans/drug effects , Humans , Reactive Oxygen Species/metabolism , Candida/drug effects , Mitochondria/drug effects , Mitochondria/metabolism , Membrane Potential, Mitochondrial/drug effects , Pichia
5.
Antibiotics (Basel) ; 13(3)2024 Feb 28.
Article in English | MEDLINE | ID: mdl-38534657

ABSTRACT

The importance of fungal infections, particularly those caused by yeasts, is increasing among the medical community. Candida albicans and Cryptococcus neoformans are amongst the high-priority fungal species identified by the World Health Organization (WHO) and are considered in the critical group, while Candida krusei is included in the medium-priority group. The cyclam salt H4[H2(4-CF3PhCH2)2Cyclam]Cl4 proved to be active against the growth of these three yeasts, and the aim of this work was to verify its interference with their virulence mechanisms, whether shared or unique. H4[H2(4-CF3PhCH2)2Cyclam]Cl4 significantly inhibited biofilm production and catalase activity, being able to interfere with C. albicans dimorphic transition and C. neoformans melanin production. At the minimal inhibitory concentration (MIC) values, H4[H2(4-CF3PhCH2)2Cyclam]Cl4 had no antioxidant effect, as determined by the DPPH method. When using the RAW264.7 macrophage cell line, H4[H2(4-CF3PhCH2)2Cyclam]Cl4 reduced nitric oxide (NO) detection (the Griess reaction), but this effect was associated with a significant toxic effect on the cells.

6.
BMC Ophthalmol ; 24(1): 51, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38302908

ABSTRACT

BACKGROUND: Artificial intelligence (AI) has the potential to increase the affordability and accessibility of eye disease screening, especially with the recent approval of AI-based diabetic retinopathy (DR) screening programs in several countries. METHODS: This study investigated the performance, feasibility, and user experience of a seamless hardware and software solution for screening chronic eye diseases in a real-world clinical environment in Germany. The solution integrated AI grading for DR, age-related macular degeneration (AMD), and glaucoma, along with specialist auditing and patient referral decision. The study comprised several components: (1) evaluating the entire system solution from recruitment to eye image capture and AI grading for DR, AMD, and glaucoma; (2) comparing specialist's grading results with AI grading results; (3) gathering user feedback on the solution. RESULTS: A total of 231 patients were recruited, and their consent forms were obtained. The sensitivity, specificity, and area under the curve for DR grading were 100.00%, 80.10%, and 90.00%, respectively. For AMD grading, the values were 90.91%, 78.79%, and 85.00%, and for glaucoma grading, the values were 93.26%, 76.76%, and 85.00%. The analysis of all false positive cases across the three diseases and their comparison with the final referral decisions revealed that only 17 patients were falsely referred among the 231 patients. The efficacy analysis of the system demonstrated the effectiveness of the AI grading process in the study's testing environment. Clinical staff involved in using the system provided positive feedback on the disease screening process, particularly praising the seamless workflow from patient registration to image transmission and obtaining the final result. Results from a questionnaire completed by 12 participants indicated that most found the system easy, quick, and highly satisfactory. The study also revealed room for improvement in the AMD model, suggesting the need to enhance its training data. Furthermore, the performance of the glaucoma model grading could be improved by incorporating additional measures such as intraocular pressure. CONCLUSIONS: The implementation of the AI-based approach for screening three chronic eye diseases proved effective in real-world settings, earning positive feedback on the usability of the integrated platform from both the screening staff and auditors. The auditing function has proven valuable for obtaining efficient second opinions from experts, pointing to its potential for enhancing remote screening capabilities. TRIAL REGISTRATION: Institutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2021-10574-BO-ff.


Subject(s)
Diabetic Retinopathy , Glaucoma , Macular Degeneration , Humans , Artificial Intelligence , Diabetic Retinopathy/diagnosis , Mass Screening/methods , Software , Macular Degeneration/diagnosis , Glaucoma/diagnosis
7.
Nucleic Acids Res ; 52(D1): D900-D908, 2024 Jan 05.
Article in English | MEDLINE | ID: mdl-37933854

ABSTRACT

Ageing is a complex and multifactorial process. For two decades, the Human Ageing Genomic Resources (HAGR) have aided researchers in the study of various aspects of ageing and its manipulation. Here, we present the key features and recent enhancements of these resources, focusing on its six main databases. One database, GenAge, focuses on genes related to ageing, featuring 307 genes linked to human ageing and 2205 genes associated with longevity and ageing in model organisms. AnAge focuses on ageing, longevity, and life-history across animal species, containing data on 4645 species. DrugAge includes information about 1097 longevity drugs and compounds in model organisms such as mice, rats, flies, worms and yeast. GenDR provides a list of 214 genes associated with the life-extending benefits of dietary restriction in model organisms. CellAge contains a catalogue of 866 genes associated with cellular senescence. The LongevityMap serves as a repository for genetic variants associated with human longevity, encompassing 3144 variants pertaining to 884 genes. Additionally, HAGR provides various tools as well as gene expression signatures of ageing, dietary restriction, and replicative senescence based on meta-analyses. Our databases are integrated, regularly updated, and manually curated by experts. HAGR is freely available online (https://genomics.senescence.info/).


Subject(s)
Aging , Databases, Genetic , Genomics , Animals , Humans , Aging/genetics , Cellular Senescence , Longevity/genetics
8.
Sci Total Environ ; 900: 165860, 2023 Nov 20.
Article in English | MEDLINE | ID: mdl-37516189

ABSTRACT

This paper presents a source apportionment study performed on a dataset collected at a trafficked site in Coimbra (Portugal) during the period December 2018-June 2019. The novelty of this work consists in the methodological approach used and the sensitivity study carried out to give hints to potential future applications. Indeed, a multi-time resolution and multi-parameter study was performed joining together aerosol data from 24-h chemically characterized samples and high-time resolution multi-wavelength absorption coefficients retrieved by an Aethalometer. A detailed sensitivity study on the most suitable combination of time resolution and uncertainties was carried out to obtain reliable physical and stable solutions over all analyses. In parallel, a regular EPA-PMF source apportionment study using chemical and optical variables averaged on 24 h is presented and discussed in comparison to the more complex multi-time and multi-parameter approach. Apart from results pertaining to the identification and relevance of different sources in Coimbra, the methodological results shown here can give guidance for readers who want to implement optical variables jointly with chemical ones in the same model run.

9.
Eur J Case Rep Intern Med ; 10(4): 003817, 2023.
Article in English | MEDLINE | ID: mdl-37051481

ABSTRACT

Introduction: The Fontan procedure is used to treat congenital heart defects and has improved long-term survival. Long-term complications include liver disease due to congestive hepatopathy. Fontan-related cirrhosis can manifest with ascites, gastrointestinal bleeding and encephalopathy. Case description: A 43-year-old man with history of Fontan surgery was admitted with COVID-19 pneumonia. There was rapid clinical and neurological deterioration, with coma and shock. CT imaging showed thrombosis of the Fontan conduit. The patient was successfully subjected to recanalization of the Fontan circulation, with progressive improvement of coma. Discussion: Fontan-associated liver disease is a major complication following the Fontan procedure. Clinicians must be aware of this pathology during patient follow-up. LEARNING POINTS: The Fontan procedure has improved the long-term survival of patients with single ventricle pathology.Fontan-associated liver disease is a result of haemodynamic changes associated with Fontan circulation; complications include hepatic encephalopathy and coma.Patients with Fontan circulation should be evaluated over time in order prevent and treat systemic complications.

10.
Nucleic Acids Res ; 51(D1): D145-D158, 2023 01 06.
Article in English | MEDLINE | ID: mdl-36454018

ABSTRACT

Gene co-expression analysis has emerged as a powerful method to provide insights into gene function and regulation. The rapid growth of publicly available RNA-sequencing (RNA-seq) data has created opportunities for researchers to employ this abundant data to help decipher the complexity and biology of genomes. Co-expression networks have proven effective for inferring the relationship between the genes, for gene prioritization and for assigning function to poorly annotated genes based on their co-expressed partners. To facilitate such analyses we created previously an online co-expression tool for humans and mice entitled GeneFriends. To continue providing a valuable tool to the scientific community, we have now updated the GeneFriends database and website. Here, we present the new version of GeneFriends, which includes gene and transcript co-expression networks based on RNA-seq data from 46 475 human and 34 322 mouse samples. The new database also encompasses tissue-specific gene co-expression networks for 20 human and 21 mouse tissues, dataset-specific gene co-expression maps based on TCGA and GTEx projects and gene co-expression networks for additional seven model organisms (fruit fly, zebrafish, worm, rat, yeast, cow and chicken). GeneFriends is freely available at http://www.genefriends.org/.


Subject(s)
Databases, Genetic , Gene Expression Profiling , Gene Regulatory Networks , Animals , Humans , RNA , Sequence Analysis, RNA
11.
Med Law Rev ; 31(2): 247-271, 2023 May 25.
Article in English | MEDLINE | ID: mdl-36240458

ABSTRACT

Linking records could serve as a useful tool for scientific research and as a facilitator for local policymaking. This article examines the challenges and opportunities for researchers to lawfully link routinely collected health and education data with cohort data of children when using it as a tool for scientific research in Portugal. Such linking can be lawfully conducted in Portugal if three requirements are met. First, data processing pursues a legitimate purpose, such as scientific research. Secondly, data linking complies with the legal obligations of research entities and researchers, acting as data controllers or processors, and it respects the rights of children as data subjects. Finally, data linking is based on the explicit written consent of those with parental responsibility for the child. So far, the implementation of the General Data Protection Regulation in Portugal has not facilitated record linkage. It is argued that further harmonised implementation of that Regulation across European Union and European Economic Area Member States, establishing a minimum shared denominator for record linkage in scientific research for the common good, including without explicit consent, is needed.


Subject(s)
European Union , Humans , Child , Portugal
12.
Obstet Med ; 15(4): 273-275, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36523884

ABSTRACT

Primary biliary cholangitis is an autoimmune disease that mostly affects women. It is uncommon in women of childbearing age and the diagnosis during pregnancy is rare and can be challenging. Described here is a case of primary biliary cholangitis first manifesting during pregnancy, with the onset of pruritus, jaundice, biochemical liver abnormalities and positive antimitochondrial antibodies. Although treatment with ursodeoxycholic acid was started at the time of diagnosis, there was a progressive worsening of cholestatic biochemical markers throughout pregnancy. In addition, fasting hyperglycemia with polyhydramnios was diagnosed, consistent with gestational diabetes. She had a spontaneous preterm delivery at 31 weeks of gestation, of a newborn who was admitted to the neonatal intensive care unit but who subsequently had no long-term sequelae of preterm delivery. A maternal postpartum flare occurred. Treatment with ursodeoxycholic acid was well tolerated during pregnancy and lactation.

13.
Front Digit Health ; 4: 1006447, 2022.
Article in English | MEDLINE | ID: mdl-36569802

ABSTRACT

Background: COVID-19 increased the demand for Remote Patient Monitoring (RPM) services as a rapid solution for safe patient follow-up in a lockdown context. Time and resource constraints resulted in unplanned scaled-up RPM pilot initiatives posing risks to the access and quality of care. Scalability and rapid implementation of RPM services require social change and active collaboration between stakeholders. Therefore, a participatory action research (PAR) approach is needed to support the collaborative development of the technological component while simultaneously implementing and evaluating the RPM service through critical action-reflection cycles. Objective: This study aims to demonstrate how PAR can be used to guide the scalability design of RPM pilot initiatives and the implementation of RPM-based follow-up services. Methods: Using a case study strategy, we described the PAR team's (nurses, physicians, developers, and researchers) activities within and across the four phases of the research process (problem definition, planning, action, and reflection). Team meetings were analyzed through content analysis and descriptive statistics. The PAR team selected ex-ante pilot initiatives to reflect upon features feedback and participatory level assessment. Pilot initiatives were investigated using semi-structured interviews transcribed and coded into themes following the principles of grounded theory and pilot meetings minutes and reports through content analysis. The PAR team used the MoSCoW prioritization method to define the set of features and descriptive statistics to reflect on the performance of the PAR approach. Results: The approach involved two action-reflection cycles. From the 15 features identified, the team classified 11 as must-haves in the scaled-up version. The participation was similar among researchers (52.9%), developers (47.5%), and physicians (46.7%), who focused on suggesting and planning actions. Nurses with the lowest participation (5.8%) focused on knowledge sharing and generation. The top three meeting outcomes were: improved research and development system (35.0%), socio-technical-economic constraints characterization (25.2%), and understanding of end-user technology utilization (22.0%). Conclusion: The scalability and implementation of RPM services must consider contextual factors, such as individuals' and organizations' interests and needs. The PAR approach supports simultaneously designing, developing, testing, and evaluating the RPM technological features, in a real-world context, with the participation of healthcare professionals, developers, and researchers.

14.
Nat Commun ; 13(1): 7174, 2022 11 22.
Article in English | MEDLINE | ID: mdl-36418309

ABSTRACT

Staphylococcus aureus is increasingly recognized as a facultative intracellular pathogen, although the significance and pervasiveness of its intracellular lifestyle remain controversial. Here, we applied fluorescence microscopy-based infection assays and automated image analysis to profile the interaction of 191 S. aureus isolates from patients with bone/joint infections, bacteremia, and infective endocarditis, with four host cell types, at five times post-infection. This multiparametric analysis revealed that almost all isolates are internalized and that a large fraction replicate and persist within host cells, presenting distinct infection profiles in non-professional vs. professional phagocytes. Phenotypic clustering highlighted interesting sub-groups, including one comprising isolates exhibiting high intracellular replication and inducing delayed host death in vitro and in vivo. These isolates are deficient for the cysteine protease staphopain A. This study establishes S. aureus intracellular lifestyle as a prevalent feature of infection, with potential implications for the effective treatment of staphylococcal infections.


Subject(s)
Bacteremia , Staphylococcal Infections , Humans , Staphylococcus aureus , Microscopy , Life Style
15.
Annu Int Conf IEEE Eng Med Biol Soc ; 2022: 2025-2028, 2022 07.
Article in English | MEDLINE | ID: mdl-36086140

ABSTRACT

This work focuses on detection of upper gas-trointestinal (GI) landmarks, which are important anatomical areas of the upper GI tract digestive system that should be photodocumented during endoscopy to guarantee a complete examination. The aim of this work consisted in testing new automatic algorithms, specifically based on convolutional neural network (CNN) systems, able to detect upper GI landmarks, that can help to avoid the presence of blind spots during esophagogastroduodenoscopy. We tested pre-trained CNN architectures, such as the ResNet-50 and VGG-16, in conjunction with different training approaches, including the use of class weights, batch normalization, dropout, and data augmentation. The ResNet-50 model trained with class weights was the best performing CNN, achieving an accuracy of 71.79% and a Mathews Correlation Coefficient (MCC) of 65.06%. The combination of supervised and unsupervised learning was also explored to increase classification performance. In particular, convolutional autoencoder architectures trained with unlabeled GI images were used to extract representative features. Such features were then concatenated with those extracted by the pre-trained ResNet-50 architecture. This approach achieved a classification accuracy of 72.45% and an MCC of 65.08%. Clinical relevance- Esophagogastroduodenoscopy (EGD) photodocumentation is essential to guarantee that all areas of the upper GI system are examined avoiding blind spots. This work has the objective to help the EGD photodocumentation monitorization by testing new CNN-based systems able to detect EGD landmarks.


Subject(s)
Algorithms , Neural Networks, Computer , Endoscopy, Digestive System
16.
Trends Endocrinol Metab ; 33(4): 266-280, 2022 04.
Article in English | MEDLINE | ID: mdl-35183431

ABSTRACT

Geroprotectors slow down aging and promote healthy longevity in model animals. Although hundreds of compounds have been shown to extend the life of laboratory model organisms, clinical studies on potential geroprotectors are exceedingly rare, especially in healthy elders. This review aims to classify potential geroprotectors based on the mechanisms by which they influence aging. These pharmacological interventions can be classified into the following groups: those that prevent oxidation; proteostasis regulators; suppressors of genomic instability; epigenetic drugs; those that preserve mitochondrial function; inhibitors of aging-associated signaling pathways; hormetins; senolytics/senostatics; anti-inflammatory drugs; antifibrotic agents; neurotrophic factors; factors preventing the impairment of barrier function; immunomodulators; and prebiotics, metabiotics, and enterosorbents.


Subject(s)
Aging , Longevity , Aged , Aging/genetics , Animals , Humans , Signal Transduction
17.
Mol Biol Evol ; 39(2)2022 02 03.
Article in English | MEDLINE | ID: mdl-34971383

ABSTRACT

Within primates, the great apes are outliers both in terms of body size and lifespan, since they include the largest and longest-lived species in the order. Yet, the molecular bases underlying such features are poorly understood. Here, we leveraged an integrated approach to investigate multiple sources of molecular variation across primates, focusing on over 10,000 genes, including approximately 1,500 previously associated with lifespan, and additional approximately 9,000 for which an association with longevity has never been suggested. We analyzed dN/dS rates, positive selection, gene expression (RNA-seq), and gene regulation (ChIP-seq). By analyzing the correlation between dN/dS, maximum lifespan, and body mass, we identified 276 genes whose rate of evolution positively correlates with maximum lifespan in primates. Further, we identified five genes, important for tumor suppression, adaptive immunity, metastasis, and inflammation, under positive selection exclusively in the great ape lineage. RNA-seq data, generated from the liver of six species representing all the primate lineages, revealed that 8% of approximately 1,500 genes previously associated with longevity are differentially expressed in apes relative to other primates. Importantly, by integrating RNA-seq with ChIP-seq for H3K27ac (which marks active enhancers), we show that the differentially expressed longevity genes are significantly more likely than expected to be located near a novel "ape-specific" enhancer. Moreover, these particular ape-specific enhancers are enriched for young transposable elements, and specifically SINE-Vntr-Alus. In summary, we demonstrate that multiple evolutionary forces have contributed to the evolution of lifespan and body size in primates.


Subject(s)
Hominidae , Longevity , Animals , Evolution, Molecular , Hominidae/genetics , Longevity/genetics , Primates/genetics , Regulatory Sequences, Nucleic Acid
18.
Porto Biomed J ; 7(2): e175, 2022.
Article in English | MEDLINE | ID: mdl-38304159

ABSTRACT

Abstract: Stigma remains a feature that influences the lifestyle of people with mental illness. Negative attitudes, stereotypes, and discrimination are still prevalent in these people's life. Stigma is considered a public health problem that occurs unconsciously in society, categorizing people. Portugal is the seventh-worst country concerning stigma in Mental Health. There have been few improvements in reducing stigma over time, and there is a great need to create investigations and validate instruments that measure stigma in the population. Aim: This study aims to address the gaps in the level of studies and normative instruments that measure the stigma of the Portuguese population in the face of mental illness. It, therefore, aims to adapt and validate community attitudes toward people with mental illness (CAMI) culturally and examine its psychometric properties. Method: The 27-item version of CAMI was translated and back-translated into English, which was analyzed and evaluated by a panel of experts. A sociodemographic survey and CAMI were applied in an online format, in which participated 427 adults representing the Portuguese population in general. Finally, the reliability and validity of the instrument were analyzed. Results: CAMI showed positive values of reliability and validity but not optimal. The confirmatory factor analysis values satisfactory values that indicate good quality of fit: x2/df=3.296; comparative fit index = 0.601; goodness of fit index = 0.817; and root mean square error of approximation = 0.073, indicates good quality of fit. Cronbach alpha was different for each factor, but it was positive. Spearman coefficient (ρ = -0.343) obtained a negative but consistent value. Conclusions: This study contributed to the achievement and validation of new measures to assess the stigma of the general population related to people with mental illness. We must continue to analyze this theme, complete the validation of this instrument, and understand the existing levels of stigma, its predominance in society, and the possible creation and implementation of new measures that support literacy in mental illness and anti-stigma.

19.
Front Genet ; 12: 559998, 2021.
Article in English | MEDLINE | ID: mdl-33643374

ABSTRACT

While it is expected for gene length to be associated with factors such as intron number and evolutionary conservation, we are yet to understand the connections between gene length and function in the human genome. In this study, we show that, as expected, there is a strong positive correlation between gene length, transcript length, and protein size as well as a correlation with the number of genetic variants and introns. Among tissue-specific genes, we find that the longest transcripts tend to be expressed in the blood vessels, nerves, thyroid, cervix uteri, and the brain, while the smallest transcripts tend to be expressed in the pancreas, skin, stomach, vagina, and testis. We report, as shown previously, that natural selection suppresses changes for genes with longer transcripts and promotes changes for genes with smaller transcripts. We also observe that genes with longer transcripts tend to have a higher number of co-expressed genes and protein-protein interactions, as well as more associated publications. In the functional analysis, we show that bigger transcripts are often associated with neuronal development, while smaller transcripts tend to play roles in skin development and in the immune system. Furthermore, pathways related to cancer, neurons, and heart diseases tend to have genes with longer transcripts, with smaller transcripts being present in pathways related to immune responses and neurodegenerative diseases. Based on our results, we hypothesize that longer genes tend to be associated with functions that are important in the early development stages, while smaller genes tend to play a role in functions that are important throughout the whole life, like the immune system, which requires fast responses.

20.
Allergol Immunopathol (Madr) ; 49(1): 58-61, 2021.
Article in English | MEDLINE | ID: mdl-33528930

ABSTRACT

BACKGROUND: Allergen-specific immunotherapy is a potentially disease-modifying therapy that is effective for the treatment of patients with allergic diseases. Although the pain caused by the administration of subcutaneous immunotherapy with allergens (SCITA) is considered to be minimal, no studies assessing that pain for the treatment of only pediatric patients have been reported. Objectives: This research aimed to evaluate the pain associated with SCITA for pediatric patients followed at our Immunoallergology Department. METHODS: During four consecutive weeks, the nurse who administered the injection completed a questionnaire recording the child's assessment of the pain associated with SCITA; these questionnaires were randomized before any analyses were done. Two different pain evaluation scales were used, with the choice of scale being determined based on the child's age: the self-reporting faces scale (score: 0-10; 5 to 8 years old) and the numeric scale (score: 0-10; >8 years old). Demographic and clinical data, as well as any adverse reactions, were documented. RESULTS: We included 46 pediatric patients (mean age: 12.3 ± 2.6 years; 69.5% male), most of whom were suffering from rhinitis/rhinoconjunctivitis and undergoing subcutaneous immunotherapy with mites. Seven local adverse reactions were recorded, and all were mild. Ten patients did not mention any pain associated with SCITA. Of the 36 patients who mentioned some pain, 33 mentioned mild pain (scores between 1 and 3); only three mentioned moderate pain (scores between 4 and 6). For both scales, the median score obtained was 1. The maximum pain reported had a score of 6. No significant differences were observed between different groups of patients. CONCLUSIONS: In this study, SCITA was shown to be a mildly painful procedure that is associated with only a few local reactions. Therefore, SCITA should be considered as a safe option for the treatment of most pediatric patients suffering from allergies.


Subject(s)
Allergens/administration & dosage , Desensitization, Immunologic/statistics & numerical data , Pain, Procedural/epidemiology , Adolescent , Allergens/adverse effects , Child , Desensitization, Immunologic/adverse effects , Female , Humans , Hypersensitivity/therapy , Injections, Subcutaneous , Male , Pain Measurement , Pain, Procedural/etiology
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