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1.
J Appl Microbiol ; 135(6)2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38877650

RESUMEN

Polar environments pose extreme challenges for life due to low temperatures, limited water, high radiation, and frozen landscapes. Despite these harsh conditions, numerous macro and microorganisms have developed adaptive strategies to reduce the detrimental effects of extreme cold. A primary survival tactic involves avoiding or tolerating intra and extracellular freezing. Many organisms achieve this by maintaining a supercooled state by producing small organic compounds like sugars, glycerol, and amino acids, or through increasing solute concentration. Another approach is the synthesis of ice-binding proteins, specifically antifreeze proteins (AFPs), which hinder ice crystal growth below the melting point. This adaptation is crucial for preventing intracellular ice formation, which could be lethal, and ensuring the presence of liquid water around cells. AFPs have independently evolved in different species, exhibiting distinct thermal hysteresis and ice structuring properties. Beyond their ecological role, AFPs have garnered significant attention in biotechnology for potential applications in the food, agriculture, and pharmaceutical industries. This review aims to offer a thorough insight into the activity and impacts of AFPs on water, examining their significance in cold-adapted organisms, and exploring the diversity of microbial AFPs. Using a meta-analysis from cultivation-based and cultivation-independent data, we evaluate the correlation between AFP-producing microorganisms and cold environments. We also explore small and large-scale biotechnological applications of AFPs, providing a perspective for future research.


Asunto(s)
Proteínas Anticongelantes , Bacterias , Biotecnología , Proteínas Anticongelantes/metabolismo , Bacterias/metabolismo , Congelación , Hielo , Frío , Proteínas Bacterianas/metabolismo , Proteínas Bacterianas/genética
2.
Int J Mol Sci ; 25(8)2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38674073

RESUMEN

Prostate cancer (PCA) is the second most common cancer diagnosis in men and the fifth leading cause of death worldwide. The conventional treatments available are beneficial to only a few patients and, in those, some present adverse side effects that eventually affect the quality of life of most patients. Thus, there is an urgent need for effective, less invasive and targeted specific treatments for PCA. Photothermal therapy (PTT) is a minimally invasive therapy that provides a localized effect for tumour cell ablation by activating photothermal agents (PTA) that mediate the conversion of the light beam's energy into heat at the site. As tumours are unable to easily dissipate heat, they become more susceptible to temperature increases. In the PTT field, gold nanoparticles (AuNPs) have been attracting interest as PTA. The aim of this study was to formulate AuNPs capable of remaining retained in the tumour and subsequently generating heat at the tumour site. AuNPs were synthesized and characterized in terms of size, polydispersity index (PdI), zeta potential (ZP), morphology and the surface plasmon resonance (SPR). The safety of AuNPs and their efficacy were assessed using in vitro models. A preliminary in vivo safety assessment of AuNPs with a mean size lower than 200 nm was confirmed. The morphology was spherical-like and the SPR band showed good absorbance at the laser wavelength. Without laser, AuNPs proved to be safe both in vitro (>70% viability) and in vivo. In addition, with laser irradiation, they proved to be relatively effective in PCA cells. Overall, the formulation appears to be promising for use in PTT.


Asunto(s)
Oro , Nanopartículas del Metal , Neoplasias de la Próstata , Oro/química , Nanopartículas del Metal/química , Nanopartículas del Metal/uso terapéutico , Masculino , Neoplasias de la Próstata/radioterapia , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/terapia , Humanos , Animales , Terapia Fototérmica/métodos , Línea Celular Tumoral , Ratones , Resonancia por Plasmón de Superficie , Rayos Láser
3.
Development ; 147(2)2020 01 22.
Artículo en Inglés | MEDLINE | ID: mdl-31932352

RESUMEN

Evolution is replete with reuse of genes in different contexts, leading to multifunctional roles of signaling factors during development. Here, we explore osteoclast regulation during skeletal development through analysis of colony-stimulating factor 1 receptor (csf1r) function in the zebrafish. A primary role of Csf1r signaling is to regulate the proliferation, differentiation and function of myelomonocytic cells, including osteoclasts. We demonstrate the retention of two functional paralogues of csf1r in zebrafish. Mutant analysis indicates that the paralogues have shared, non-redundant roles in regulating osteoclast activity during the formation of the adult skeleton. csf1ra, however, has adopted unique roles in pigment cell patterning not seen in the second paralogue. We identify a unique noncoding element within csf1ra of fishes that is sufficient for controlling gene expression in pigment cells during development. As a role for Csf1r signaling in pigmentation is not observed in mammals or birds, it is likely that the overlapping roles of the two paralogues released functional constraints on csf1ra, allowing the signaling capacity of Csf1r to serve a novel function in the evolution of pigment pattern in fishes.


Asunto(s)
Desarrollo Embrionario , Proteínas Tirosina Quinasas/metabolismo , Homología de Secuencia de Aminoácido , Proteínas de Pez Cebra/metabolismo , Pez Cebra/embriología , Animales , Huesos/metabolismo , Dentición , Desarrollo Embrionario/genética , Elementos de Facilitación Genéticos/genética , Regulación del Desarrollo de la Expresión Génica , Modelos Biológicos , Mutación/genética , Fenotipo , Pigmentación/genética , Proteínas Tirosina Quinasas/genética , Proteínas Tirosina Quinasas Receptoras , Pez Cebra/genética , Proteínas de Pez Cebra/genética
4.
J Res Adolesc ; 33(3): 973-985, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37073453

RESUMEN

The present study overcomes the limited empirical evidence on the association between well-being and school engagement in times of adversity by exploiting available data from two large and comparable samples of eighth graders; one obtained prior to the COVID-19 pandemic and the second obtained during the pandemic. Results suggest that adolescents were less engaged with their learning context during the pandemic, as well as lower in positive and negative affect, but slightly more satisfied with life. Through SEM we found a stronger positive association between positive affect and school engagement in the COVID-19 group compared with the pre-COVID-19 group. This finding highlights the important role of positive affect in supporting better academic functioning in the aftermath of a global crisis.


Asunto(s)
COVID-19 , Pandemias , Adolescente , Humanos , Instituciones Académicas , Emociones
5.
J Pers Assess ; 105(1): 22-33, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-35298310

RESUMEN

The Schwartz Model of Basic Values is an influential framework that describes what people find important and worth pursuing in life. The model proposes that ten human values are found cross-culturally, and so significant efforts have gone into empirically testing these claims. While instruments such as the Portrait Values Questionnaire-40 (PVQ-40) reliably discriminated the full set of theorized values, briefer versions have either suffered from a lack of construct validity (PVQ-21) or from not having been put through a rigorous statistical test of its underlying structure (Twenty Item Values Inventory [TwIVI]) via confirmatory factor analysis (CFA). The present study, using a Portuguese sample of adults (n = 524), is the first to examine the factorial structure of the TwIVI via CFA. We apply a magnifying glass approach by testing two separate models, each covering five values, which reflect the Growth and Self-protective dimensions. Moreover, we provide evidences that the TwIVI is reliable and capable of capturing the theorized quasi-circumplex structure, and the cross-cultural gender differences and relative hierarchical importance of values. Finally, we establish criterion-related validity, with values correlating with political identity and social and economic issues.


Asunto(s)
Reproducibilidad de los Resultados , Adulto , Humanos , Portugal , Encuestas y Cuestionarios , Análisis Factorial , Psicometría
6.
J Sci Food Agric ; 103(3): 1088-1096, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35315088

RESUMEN

BACKGROUND: Non-value agrifood byproducts are rich in biomolecules such as proteins and polysaccharides, and possess film-forming ability, motivating their use in the development of biodegradable plastics. This work studied the feasibility of using locust bean milling-derived dust (LBMD) as a source of biomolecules suitable for developing biodegradable plastics. RESULTS: LBMD is composed of 56% protein, 28% carbohydrate, 10% moisture, 6% lipid, and 2% ash. In addition, phenolic compounds are also present. The carbohydrates are mainly composed by (1 → 4)-mannose, (1 → 4,6)-mannose, and t-galactose glycosidic linkages. Depending on the LBMD concentration used, when employed in casting biodegradable plastics, LBMD yields transparent yellowish bioplastics with 90% elongation at break and surface water contact angles ranging from 60° to 90°. Additionally, LBMD-based bioplastics display antioxidant activity, inhibiting cationic 2,2'-azino-bis-(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS) radicals up to 61% in just 24 h. LBMD-based bioplastics are disintegrated when incubated on the soil surface for 34 weeks, perhaps acting as a soil nutrient. CONCLUSION: LBMD represents a potential source of biomolecules for producing transparent, flexible, water tolerant, antioxidant, and biodegradable bioplastics, opening up opportunities to implement a novel circular strategy to valorize this locust bean industry byproduct. © 2022 Society of Chemical Industry.


Asunto(s)
Antioxidantes , Plásticos Biodegradables , Plásticos Biodegradables/química , Manosa , Biopolímeros/química , Proteínas , Agua/química , Suelo , Plásticos/química
7.
Development ; 145(1)2018 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-29180569

RESUMEN

Inactivating mutations in the ubiquitously expressed membrane trafficking component GMAP-210 (encoded by Trip11) cause achondrogenesis type 1A (ACG1A). ACG1A is surprisingly tissue specific, mainly affecting cartilage development. Bone development is also abnormal, but as chondrogenesis and osteogenesis are closely coupled, this could be a secondary consequence of the cartilage defect. A possible explanation for the tissue specificity of ACG1A is that cartilage and bone are highly secretory tissues with a high use of the membrane trafficking machinery. The perinatal lethality of ACG1A prevents investigating this hypothesis. We therefore generated mice with conditional Trip11 knockout alleles and inactivated Trip11 in chondrocytes, osteoblasts, osteoclasts and pancreas acinar cells, all highly secretory cell types. We discovered that the ACG1A skeletal phenotype is solely due to absence of GMAP-210 in chondrocytes. Mice lacking GMAP-210 in osteoblasts, osteoclasts and acinar cells were normal. When we inactivated Trip11 in primary chondrocyte cultures, GMAP-210 deficiency affected trafficking of a subset of chondrocyte-expressed proteins rather than globally impairing membrane trafficking. Thus, GMAP-210 is essential for trafficking specific cargoes in chondrocytes but is dispensable in other highly secretory cells.


Asunto(s)
Acondroplasia , Alelos , Desarrollo Óseo/genética , Cartílago , Fenotipo , Acondroplasia/genética , Acondroplasia/metabolismo , Acondroplasia/patología , Animales , Transporte Biológico Activo/genética , Cartílago/anomalías , Cartílago/metabolismo , Cartílago/patología , Condrocitos/metabolismo , Condrocitos/patología , Proteínas del Citoesqueleto , Ratones , Ratones Noqueados , Proteínas Nucleares/metabolismo , Osteoblastos/metabolismo , Osteoblastos/patología , Osteoclastos/metabolismo , Osteoclastos/patología
8.
Neurol Sci ; 42(3): 1039-1043, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32719903

RESUMEN

BACKGROUND: Fingolimod is an oral daily treatment for relapsing remitting multiple sclerosis (RRMS). A decrease in lymphocytes count is a common side effect, whereby clinicians occasionally propose a reduced dose rather than its discontinuation. However, current data on the effectiveness of these regimens are scarce and contradictory. Our objective was to investigate if the fingolimod effectiveness is maintained with reduction in dosing frequency. METHODS: Retrospective and observational study of RRMS patients taking fingolimod-nondaily (FTY-ND) for at least 6 months. Propensity score-based matching was performed to select patients taking daily dose (FTY-ED) with comparable baseline characteristics: age, sex, disease duration, annualized relapse rate (ARR), and expanded disability status scale (EDSS). Afterwards, clinical and laboratorial assessment was evaluated in both groups. RESULTS: Thirty-six patients were included in each group (FTY-ED vs. FTY-ND). Decrease in lymphocytes count was the main reason for switching to FTY-ND (88.9%). Previous treatment with natalizumab was inversely associated with risk of reducing dose (OR 0.253, 95%CI = 0.08-0.807, p = 0.016). There were no significant differences in clinical disease activity between patients FTY-ED vs. FTY-ND: mean ARR 0.4 vs. 0.3 (p = 0.247), median EDSS 2.0 vs. 2.0 (p = 0.687), and proportion of patients with EDSS increase 8.3% vs. 13.9% (p = 0.453). FTY-ND was overall well tolerated and was associated with an increase in the mean lymphocytes count (362 ± 103 cells/mm3 to 541 ± 183 cells/mm3, p < 0.001). CONCLUSION: These data suggest that the effectiveness of FTY is maintained despite the reduction of the dose, minimizing the most common adverse events. These findings warrant further confirmation, ideally with randomized clinical trials.


Asunto(s)
Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Clorhidrato de Fingolimod/uso terapéutico , Humanos , Inmunosupresores/efectos adversos , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Natalizumab , Portugal , Estudios Retrospectivos , Resultado del Tratamiento
9.
Molecules ; 26(18)2021 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-34577093

RESUMEN

Dietary fiber can be obtained by dextrinization, which occurs while heating starch in the presence of acids. During dextrinization, depolymerization, transglycosylation, and repolymerization occur, leading to structural changes responsible for increasing resistance to starch enzymatic digestion. The conventional dextrinization time can be decreased by using microwave-assisted heating. The main objective of this study was to obtain dietary fiber from acidified potato starch using continuous and discontinuous microwave-assisted heating and to investigate the structure and physicochemical properties of the resulting dextrins. Dextrins were characterized by water solubility, dextrose equivalent, and color parameters (L* a* b*). Total dietary fiber content was measured according to the AOAC 2009.01 method. Structural and morphological changes were determined by means of SEM, XRD, DSC, and GC-MS analyses. Microwave-assisted dextrinization of potato starch led to light yellow to brownish products with increased solubility in water and diminished crystallinity and gelatinization enthalpy. Dextrinization products contained glycosidic linkages and branched residues not present in native starch, indicative of its conversion into dietary fiber. Thus, microwave-assisted heating can induce structural changes in potato starch, originating products with a high level of dietary fiber content.


Asunto(s)
Fibras de la Dieta/análisis , Calor , Microondas , Almidón/química , Ácidos/química , Conformación de Carbohidratos , Color , Dextrinas/análisis , Dextrinas/química , Glucosa/análisis , Glucosa/química , Microscopía Electrónica de Rastreo , Fenómenos Físicos , Solanum tuberosum/química , Solubilidad , Difracción de Rayos X
10.
Reproduction ; 160(3): R41-R54, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32716008

RESUMEN

Hormones and inflammatory mechanisms are implicated with female reproductive function, including follicle maturation, ovulation, embryo implantation, and pregnancy. Periodontitis is a chronic inflammatory disease due to a polymicrobial disruption of the homeostasis and may be considered as a potential risk factor that affect female fertility. The role of periodontitis is becoming meaningful, with significant associations with polycystic ovary syndrome, endometriosis and bacterial vaginosis. Further, periodontitis is linked with known risk factors towards female infertility, such as age, obesity, and chronic kidney disease. This review aims to summarize the available evidence on the association between periodontitis and female infertility-associated conditions, and to discuss warranting steps in future research.


Asunto(s)
Infertilidad Femenina/etiología , Periodontitis/complicaciones , Femenino , Humanos , Infertilidad Femenina/patología , Embarazo , Reproducibilidad de los Resultados
11.
Curr Genomics ; 21(4): 240-252, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-33071618

RESUMEN

Genomic and proteomic advances in extremophile microorganism studies are increasingly demonstrating their ability to produce a variety of enzymes capable of converting biomass into bioenergy. Such microorganisms are found in environments with nutritional restrictions, anaerobic environments, high salinity, varying pH conditions and extreme natural environments such as hydrothermal vents, soda lakes, and Antarctic sediments. As extremophile microorganisms and their enzymes are found in widely disparate locations, they generate new possibilities and opportunities to explore biotechnological prospecting, including biofuels (biogas, hydrogen and ethanol) with an aim toward using multi-omics tools that shed light on biotechnological breakthroughs.

12.
Epilepsy Behav ; 98(Pt A): 207-209, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31382178

RESUMEN

INTRODUCTION: Neurofibrillary tangles and tau protein, the neuropathological hallmarks of Alzheimer's disease (AD), have been identified in patients with epilepsy. Tau protein was also associated with the modulation of neuronal excitability in animal models of AD. MATERIALS AND METHODS: We evaluated in 292 patients with AD the association between the risk of seizure development and AD cerebrospinal fluid (CSF) biomarkers, demographic characteristics, baseline Mini-Mental State Examination (MMSE) score, comorbidities, and apolipoprotein E status. RESULTS: The development of seizures was associated with younger age at dementia's onset, lower baseline MMSE, and higher CSF total tau protein levels, but only MMSE (hazard ratio [HR] = 0.935; 95% confidence interval [CI] = [0.903, 0.968]; p < 0.001) and CSF tau (HR = 1.001; 95%CI = [1.001, 1.002]; p = 0.001) were independent predictors on multivariate analysis. DISCUSSION: While CSF tau and lower baseline MMSE association with seizure development could in part be explained by a greater degree of cortical damage, the role of tau in the modulation of neuronal excitability may also play a role and should be further investigated.


Asunto(s)
Enfermedad de Alzheimer/líquido cefalorraquídeo , Enfermedad de Alzheimer/diagnóstico , Convulsiones/líquido cefalorraquídeo , Convulsiones/diagnóstico , Proteínas tau/líquido cefalorraquídeo , Anciano , Enfermedad de Alzheimer/epidemiología , Péptidos beta-Amiloides/líquido cefalorraquídeo , Biomarcadores/líquido cefalorraquídeo , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Masculino , Pruebas de Estado Mental y Demencia , Persona de Mediana Edad , Estudios Prospectivos , Estudios Retrospectivos , Factores de Riesgo , Convulsiones/epidemiología
14.
Arq Bras Cardiol ; 121(2): e20230222, 2024.
Artículo en Portugués, Inglés | MEDLINE | ID: mdl-38422306

RESUMEN

Fibroelastomas are the second most common benign cardiac tumor1. They are small avascular structures with a mean size of 9mm, ranging up to 70mm, usually attached to the heart valves' surface (aortic and mitral are the most affected, followed by tricuspid and pulmonary valves). Their etiology is unclear, but the hypothesis of coalescence of microthrombus at the coaptation margins of valves is the most widely accepted theory. On echocardiography, they are pedicled, mobile, with a filamentous surface, and usually have a speckled appearance with echolucencies and a stippled pattern near the edges. Clinically, they may be associated with embolic phenomena; however, in most cases, the diagnosis is incidental. We present a series of four clinical cases with an incidental diagnosis of fibroelastomas across the four cardiac valves as assessed by transthoracic echocardiography (Video 1; Figure 1). Video 1 From left to right and top to bottom: fibroelastomas of the anterior leaflet of the tricuspid valve, anterior leaflet of the mitral valve, left cusp of the pulmonary valve and left cuspid of the aortic valve, each corresponding to a different patient. Link: http://abccardiol.org/supplementary-material/2024/12102/2023-0222_IM_video01.mp4 Figure 1 From left to right and top to bottom: fibroelastomas of the anterior leaflet of the tricuspid valve, anterior leaflet of the mitral valve, left cusp of the pulmonary valve and left cuspid of the aortic valve, each corresponding to a different patient.


Os fibroelastomas são o segundo tumor cardíaco benigno mais comum. São estruturas pequenas, avasculares, com uma dimensão média de 9mm, podendo atingir até 70mm, habitualmente aderentes à superfície das válvulas cardíacas (válvulas aórtica e mitral são as mais comumente afetadas, seguidas das válvulas tricúspide e pulmonar). A etiologia não é clara, sendo a hipótese de formação de microtrombos nas margens de coaptação das válvulas a mais aceite. Na ecocardiografia apresentam aspeto pediculado, móvel, com superfície filamentosa, tipicamente com uma aparência pontilhada nas margens e ecolucente. Do ponto de vista clínico, podem estar associados a fenómenos embólicos, no entanto, na maioria dos casos o diagnóstico é incidental. Apresentamos de seguida quatro casos de diagnóstico incidental de fibroelastomas nas quatro válvulas cardíacas, diagnosticados por ecocardiograma transtorácico (ETT) (Vídeo 1; Figura 1). Vídeo 1Da esquerda para a direita, de cima para baixo: fibroelastomas no folheto anterior da válvula tricúspide, folheto anterior da válvula mitral, cúspide esquerda da válvula pulmonar e cúspide esquerda da válvula aórtica, cada um correspondendo a um doente diferente. Em: http://abccardiol.org/supplementary-material/2024/12102/2023-0222_IM_video01.mp4 Figura 1Da esquerda para a direita, de cima para baixo: fibroelastomas no folheto anterior da válvula tricúspide, folheto anterior da válvula mitral, cúspide esquerda da válvula pulmonar e cúspide esquerda da válvula aórtica, cada um correspondendo a um doente diferente.


Asunto(s)
Ecocardiografía , Hallazgos Incidentales , Humanos , Aorta , Válvula Mitral/diagnóstico por imagen , Válvula Tricúspide/diagnóstico por imagen
15.
Artículo en Inglés | MEDLINE | ID: mdl-38871367

RESUMEN

BACKGROUND: Antibodies against leucine-rich glioma inactivated protein 1 (LGI1) constitute a common form of autoimmune encephalitis. On MR imaging, it may show T2 FLAIR hyperintensities of the medial temporal lobe (T2 FLAIR-MTL), involve the basal ganglia, or be unremarkable. PURPOSE: We performed a systematic review and meta-analysis to obtain prevalence estimates of abnormal findings on MR imaging in anti-LGI1 encephalitis. A human brain map of the LGI1 microarray gene expression was derived from the Allen Human Brain Atlas. DATA SOURCES: PubMed and Web of Science were searched with the terms "LGI1" and "encephalitis" from inception to April 7, 2022. STUDY SELECTION: Thirty-one research publications, encompassing case series and retrospective cohort and case-control studies, with >10 patients with anti-LGI1 encephalitis and MR imaging data were included. DATA ANALYSIS: Pooled prevalence estimates were calculated using Freeman-Tukey double-arcsine transformation. Meta-analysis used DerSimonian and Laird random effects models. DATA SYNTHESIS: Of 1318 patients in 30 studies, T2 FLAIR-MTL hyperintensities were present in 54% (95% CI, 0.48-0.60; I2 = 76%). Of 394 patients in 13 studies, 27% showed bilateral (95% CI, 0.19-0.36; I2 = 71%) and 24% unilateral T2 FLAIR-MTL abnormalities (95% CI, 0.17-0.32; I2 = 61%). Of 612 patients in 15 studies, basal ganglia abnormalities were present in 10% (95% CI, 0.06-0.15; I2 = 67%). LGI1 expression was highest in the amygdala, hippocampus, and caudate nucleus. LIMITATIONS: Only part of the spectrum of MR imaging abnormalities in anti-LGI1 encephalitis could be included in a meta-analysis. MR imaging findings were not the main outcomes in most studies, limiting available information. I2 values ranged from 62% to 76%, representing moderate-to-large heterogeneity. CONCLUSIONS: T2 FLAIR-MTL hyperintensities were present in around one-half of patients with anti-LGI1. The prevalence of unilateral and bilateral presentations was similar, suggesting unilaterality should raise the suspicion of this disease in the appropriate clinical context. Around 10% of patients showed basal ganglia abnormalities, indicating that special attention should be given to this region. LGI1 regional expression coincided with the most frequently reported abnormal findings on MR imaging. Regional specificity might be partially determined by expression levels of the target protein.

16.
Immunol Res ; 2024 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-38291273

RESUMEN

A Consensus of Psychoimmunology Experts (Pollak et al., 2019) established a set of red flags and proposed diagnostic criteria for psychosis of autoimmune origin (AIP). Previous studies on AIP are limited by the scarcity of CSF analysis, preventing the valorization of blood anti-neuronal antibodies (Ab). The aims of this study are to determine the relative frequency and characterize AIP in a cohort of psychotic patients that underwent CSF workup. This work is a retrospective study in a tertiary psychiatric hospital. Clinical and paraclinical data were collected from medical records, and patients were classified according to Pollak et al. (2019) criteria. From 68 patients, ten (14.7%) had positive anti-neuronal antibodies (Ab): n = 5 in CSF and blood (n = 4 anti-NMDAr, n = 1 -GAD65), and n = 5 in blood only (n = 1 anti-GABAb, n = 1 -GAD65, n = 1 -SOX1, n = 1 -NMDAr, n = 1 -zic4). After 5- (2-10)-year follow-up, n = 6/68 (8.8%) had AIP diagnosis in context of autoimmune encephalitis (AE), and the remaining (n = 4/10, blood-only Ab) alternative diagnoses (n = 2 dementia, n = 1 schizophrenia, n = 1 intellectual disability). Ten of the 13 patients that fulfilled criteria for possible AIP were mimics, and only three AE had criteria for probable AIP. All AIP developed neurological manifestations (mostly cognitive dysfunction); EEG was usually abnormal (66.7%), and all had normal MRI. We found statistically significant associations between AIP/AE and systemic autoimmune disease, presentation with seizures and EEG abnormalities. All AE developed neurological symptoms alongside psychosis. Ab positivity occurred predominantly in AE but also in other neuropsychiatric disorders. Clinical suspicion based on the knowledge of the described presentations of established Ab is crucial in the psychotic patient approach.

17.
Int J Med Microbiol ; 303(8): 505-13, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23932912

RESUMEN

The emergence of highly virulent and successful Streptococcus pyogenes (group A streptococci - GAS) clones has been attributed to the exchange of virulence factors by lateral gene transfer mechanisms, which strongly contribute to genomic diversity. We characterized a collection of 191 GAS isolates recovered from normally sterile sites in Portugal during 2006-2009 and compared them to invasive isolates obtained during 2000-2005. Antimicrobial resistance rates did not change significantly between the two periods and were generally low. In 2006-2009, emm1, emm89, emm3, and emm6 represented 60% of the isolates. The chromosomally encoded superantigen (SAg) genes speG and smeZ were present in the majority (>90%) of the isolates, while speJ was found in only 45%. The phage encoded SAgs varied greatly in prevalence (2-53%). The distribution of emm types, pulsed-field gel electrophoresis profiling (PFGE) clusters, and SAg profiles changed significantly between the periods, although there were no statistically supported changes in the prevalence of individual types. While the macrolide susceptible clone emm1-T1-ST28 remained dominant (28%), there was a significant decrease in clonal diversity as indicated by both PFGE profiling and emm typing. This was accompanied by intra-clonal divergence of SAg profiles, which was statistically confirmed for isolates representing emm1, emm28, and emm44. This diversification was associated with the loss and acquisition of SAg genes, carried by phages and of chromosomal origin. These data suggest an ongoing genomic diversification of GAS invasive isolates in Portugal that may contribute to the persistence of clones with improved fitness or virulence.


Asunto(s)
Infecciones Estreptocócicas/epidemiología , Infecciones Estreptocócicas/microbiología , Streptococcus pyogenes/genética , Streptococcus pyogenes/aislamiento & purificación , Superantígenos/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antígenos Bacterianos/genética , Proteínas de la Membrana Bacteriana Externa/genética , Proteínas Portadoras/genética , Niño , Preescolar , Electroforesis en Gel de Campo Pulsado , Femenino , Eliminación de Gen , Transferencia de Gen Horizontal , Variación Genética , Genotipo , Humanos , Lactante , Masculino , Persona de Mediana Edad , Epidemiología Molecular , Tipificación Molecular , Portugal/epidemiología , Prevalencia , Adulto Joven
18.
Rheumatology (Oxford) ; 52(12): 2168-76, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24046467

RESUMEN

OBJECTIVE: The association of non-MHC genes with AS has been recently suggested. We aimed to investigate the association of the ERAP1, IL23R and TNFSF15 regions and the susceptibility to and protection from AS in HLA-B27-positive individuals. METHODS: A total of 200 unrelated AS patients and 559 healthy unrelated subjects, all HLA-B27 positive, were tested. Twenty single nucleotide polymorphisms (SNPs) were investigated in and near IL23R (nine SNPs), in ERAP1 (five SNPs) and in TNFSF15 (six SNPs). RESULTS: ERAP1 rs30187 [odds ratio (OR) = 1.5, P = 4.7 × 10(-3)] had the strongest association with AS susceptibility. A protective effect was found in three of the ERAP1 SNPs: rs17482078 (OR = 0.7, P = 2.8 × 10(-2)), rs10050860 (OR = 0.7, P = 2.3 × 10(-2)), rs2287987 (OR = 0.6, P = 1.3 × 10(-2)). The ERAP1 haplotype rs17482078/rs10050860/rs30187/rs2287987-CCTT showed an association with AS susceptibility (P = 6.8 × 10(-3)) and a protective effect was identified in rs17482078/rs10050860/rs30187/rs2287987-TTCC (P = 3.1 × 10(-2)). Significant association with AS susceptibility was found in one IL23R marker (rs1004819, P = 4.3 × 10(-2), OR = 1.3). No associations were observed in the TNFSF15 region. CONCLUSION: The identification of a new protection haplotype in ERAP1 and the lack of association of the TNFSF15 region can provide new insights into the understanding of the mechanisms underlying the susceptibility to and protection from AS.


Asunto(s)
Aminopeptidasas/genética , Polimorfismo de Nucleótido Simple/genética , Receptores de Interleucina/genética , Espondilitis Anquilosante/genética , Miembro 15 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/genética , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad/genética , Genotipo , Antígeno HLA-B27/genética , Haplotipos , Humanos , Desequilibrio de Ligamiento/genética , Masculino , Persona de Mediana Edad , Antígenos de Histocompatibilidad Menor
19.
BMC Musculoskelet Disord ; 14: 295, 2013 Oct 16.
Artículo en Inglés | MEDLINE | ID: mdl-24131745

RESUMEN

BACKGROUND: It is well established that males have lower fracture risk in comparison with females, which suggests a higher bone resistance in men. The aim of our study was to find out if in older patients with hip fragility fractures, gender has also an impact on trabecular bone material behaviour, specifically to determine whether trabecular mechanical properties under compressive loading differ between men and women who suffered a fragility hip fracture. METHODS: Femoral epiphyses were consecutively collected during hip replacement surgery due to proximal femur fragility fracture. Trabecular bone cylinders were drilled and submitted to uniaxial compression tests and mechanical properties were assessed. RESULTS: Seventy-three patients, 55 women (mean age 81 years and standard deviation of 7 years) and 18 men (mean age 81 years and standard deviation of 8 years) were evaluated. The ultimate stress of trabecular bone was significantly higher in men than in women: the median values and the interquartile range (IQR) were respectively 8.04(5.35-10.90) MPa vs. 4.46(3.02-7.73) MPa, (p-value = 0.005). The same difference between male and female was observed in the Young's modulus: 293.68(166.67-538.18) MPa vs. 174.26(73.07-322.28) MPa, (p-value = 0.028), and also in the energy to failure: 0.25(0.07-0.42) MJ/m³ vs. 0.11(0.05-0.25) MJ/m³, (p-value = 0.058). These differences were also verified after adjusting the analysis for age in a multivariate model analysis. CONCLUSIONS: Our observations demonstrated that, even in a population who suffered a fragility hip fracture, men still have higher trabecular bone mechanical properties in comparison with women.


Asunto(s)
Fracturas de Cadera/etiología , Caracteres Sexuales , Estrés Mecánico , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis de Regresión
20.
Cureus ; 15(9): e45105, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37842465

RESUMEN

OBJECTIVE: The objective of this study was to determine the prevalence of end-organ damage in hypertensive patients attending an outpatient consultation. MATERIALS AND METHODS: Patients were selected from an outpatient consultation at a tertiary hospital care center. All patients who consulted between July 2022 and March 2023 were included. Data on demographic characteristics, blood pressure records, hypertension etiology, medication use, and the presence of target organ damage were collected. RESULTS: A total of 73 patients were included in the study, with 34 patients being male (46.6%) and 39 patients being female (53.4%). The mean age of the patients was 49.8 years. Among the cases of hypertension, 14 (19.2%) were classified as secondary arterial hypertension (AH). The most common cause of secondary AH was obstructive sleep apnea (OSA) (42.9%). Approximately 23.2% of patients had documented end-organ damage potentially related to hypertension, with kidney disease being the most frequent (n = 10, 13.7%). The most commonly prescribed pharmacological classes were angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists (n = 46, 63%). CONCLUSION: Despite numerous studies and trials on arterial hypertension, it remains a significant contributor to morbidity and mortality, necessitating the continued awareness of its long-term implications.

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