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1.
Emergencias ; 36(3): 197-203, 2024 Jun.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-38818985

RESUMO

OBJECTIVES: Status epilepticus (SE) is a serious event associated with high mortality. This study aims to validate the recently developed ADAN (Abnormal speech, ocular Deviation, Automatisms, and Number of motor epileptic seizures) scale for detecting high risk for SE. MATERIAL AND METHODS: Prospective, multicenter, observational study in adults with suspected epileptic seizures. Consecutive recruitment took place over a 27-month period in 4 hospital emergency departments (EDs). The main endpoint was the proportion of patients with criteria for SE based on the collection and analysis of clinical characteristics and the ADAN scale criteria on arrival at the ED. RESULTS: Of the 527 patients recruited, 203 (38.5%) fulfilled the criteria that predicted SE. Multiple regression analysis demonstrated that the 4 ADAN criteria were the only variables independently associated with a final diagnosis of SE (P .001). The predictive power of the scale was 90.9% (95% CI, 88.4%-93.4%) for a final SE diagnosis. We established 3 risk groups based on ADAN scores: low (score, 0-1: 8.7%), moderate (2, 46.6%), and high (> 2, 92.6%). A cut point of more than 1 had a sensitivity of 88.2% for predicting SE, specificity of 77.8%, positive predictive value of 71.3%, and negative predictive value of 91.3%. CONCLUSION: The ADAN scale is a prospectively validated, simple clinical tool for identifying patients in the ED who are at high risk for SE.


OBJETIVO: El estado epiléptico (EE) es una enfermedad grave con elevada mortalidad. Este estudio tiene como objetivo validar la escala ADAN, propuesta recientemente para identificar pacientes con alto riesgo de desarrollar un EE. METODO: Se realizó un estudio prospectivo, multicéntrico y observacional que incluyó a pacientes adultos con sospecha de crisis epilépticas. Se llevó a cabo un reclutamiento consecutivo durante 27 meses en los servicios de urgencias (SU) de cuatro hospitales. La variable principal fue la proporción de pacientes que cumplían criterios para EE. Se han recopilado y analizado las características clínicas y la puntuación en la escala ADAN a su llegada al SU. RESULTADOS: Se reclutaron 527 pacientes, de los cuales 203 (38,5%) cumplieron criterios de EE. En el análisis de regresión múltiple, se demostró que el habla anormal, la desviación ocular, los automatismos y el número de crisis epilépticas motoras fueron las únicas variables independientemente asociadas con un diagnóstico final de EE (p 0,001). La capacidad predictiva de la escala fue del 90,9% (intervalo de confianza del 95%, 88,4-93,4) para identificar el EE como diagnóstico final. Se establecieron tres grupos de riesgo: bajo (0 1 puntos: 8,7%), moderado (2: 46,6%) y alto (> 2: 92,6%). Una puntuación de corte > 1 punto proporcionó una sensibilidad del 88,2%, especificidad del 77,8%, valor predictivo positivo del 71,3% y valor predictivo negativo del 91,3% para predecir el EE. CONCLUSIONES: La escala ADAN es una herramienta clínica simple y validada de manera prospectiva para identificar, en los SU, a los pacientes con elevado riesgo de EE.


Assuntos
Serviço Hospitalar de Emergência , Estado Epiléptico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Medição de Risco/métodos , Estado Epiléptico/diagnóstico
2.
J Atten Disord ; : 10870547241253999, 2024 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-38798087

RESUMO

OBJECTIVE: ADHD is a prevalent neurodevelopmental disorder characterized by symptoms of inattention and hyperactivity-impulsivity. Impairments in executive functioning (EF) are central to models of ADHD, while alpha-band spectral power event-related decreases (ERD) have emerged as a putative electroencephalography (EEG) biomarker of EF in ADHD. Little is known about the roles of EF and alpha ERD and their interactions with symptoms of ADHD. METHOD: We estimated network models of ADHD symptoms and integrated alpha ERD measures into the symptom network. RESULTS: EF emerges as a bridge network node connecting alpha ERD and the hyperactivity/impulsivity and inattention symptoms. We found that EF most closely relates to a subset of symptoms, namely the motoric symptoms, "seat" (difficulty staying seated), and "runs" (running or climbing excessively). CONCLUSIONS: EF functions as a bridge node connecting alpha ERD and the ADHD symptom network. Motoric-type symptoms and EF deficits may constitute important nodes in the interplay between behavior/symptoms, cognition, and neurophysiological markers of ADHD.

3.
Behav Brain Res ; 469: 115003, 2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-38642862

RESUMO

BACKGROUND: Executive functioning deficits are central to established neuropsychological models of ADHD. Oscillatory activity, particularly the alpha rhythm (8-12 Hz) has been associated with cognitive impairments in ADHD. However, most studies to date examined such neural mechanisms underlying executive dysfunction in children and adolescents with ADHD, raising the question of whether and to what extent those ADHD-related working memory impairments are still present in adults. To this end, the current study aimed to investigate the role of alpha event-related decreases (ERD) during working memory processes in adults with and without ADHD. METHODS: We collected electroencephalographic (EEG) data from 85 adults with a lifetime diagnosis of ADHD and 105 controls (aged 32-64), while they performed a continuous performance (CPT) and a spatial delayed response working memory task (SDRT). Time-frequency and independent component analysis (ICA) was used to identify alpha (8-12 Hz) clusters to examine group and condition effects during the temporal profile of sustained attention and working memory processes (encoding, maintenance, retrieval), loads (low and high) and trial type (go and nogo). RESULTS: Individuals with ADHD exhibited higher reaction time-variability in SDRT, and slower response times in SDRT and CPT, despite no differences in task accuracy. Although working memory load was associated with stronger alpha ERD in both tasks and both groups (ADHD, controls), we found no consistent evidence for attenuated alpha ERD in adults with ADHD, failing to replicate effects reported in children. In contrast, when looking at the whole sample, the correlations of alpha power during encoding with inattention and hyperactivity-impulsivity symptoms were significant, replicating prior findings in children with ADHD, but suggesting an alternate source for these effects in adults. CONCLUSIONS: Our results corroborate the robustness of alpha as a marker of visual attention and suggest that occipital alpha ERD normalizes in adulthood, but with unique contributions of centro-occipital alpha ERD, suggesting a secondary source. This implies that deviations in processes other than previously reported visuospatial cortex engagement may account for the persistent symptoms and cognitive deficits in adults with a history of ADHD.


Assuntos
Ritmo alfa , Transtorno do Deficit de Atenção com Hiperatividade , Atenção , Memória de Curto Prazo , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Memória de Curto Prazo/fisiologia , Masculino , Feminino , Adulto , Ritmo alfa/fisiologia , Atenção/fisiologia , Pessoa de Meia-Idade , Tempo de Reação/fisiologia , Eletroencefalografia , Função Executiva/fisiologia , Testes Neuropsicológicos , Desempenho Psicomotor/fisiologia
4.
Animals (Basel) ; 14(8)2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38672290

RESUMO

An experiment was carried out to assess the effect of the incorporation of sun-dried foliage of Brosimum alicastrum into rations based on hay of Megathyrsus maximus on intake, rumen fermentation, kinetics of passage, microbial nitrogen supply to the small intestine, apparent digestibility in Pelibuey hair sheep. Four rations were randomly allotted to four rumen-cannulated lambs (BW = 37.4 ± 4.9 kg) using a 4 × 4 Latin square design to assess the effect of increasing levels (0, 15, 30 and 45% DM basis) of foliage of Brosimum alicastrum on a basal ration of M. maximus. Organic matter intake and water consumption increased linearly (p < 0.01) with increasing levels of B. alicastrum in the ration. The rate and potential extent of rumen fermentation of OM and CP of B. alicastrum were 10.6%/h and 86.6% and 11.4%/h and 95.2%, respectively, but no effect (p > 0.05) was found on the potential rumen degradation of DM (40.2%) or on the rate of degradation of DM (0.033%/h) of M. maximus, although a positive effect was found in the rumen degradation rate of NDF (p < 0.05). VFA and ammonia concentration in the rumen and the rate of passage of solids and liquids through the rumen (k1) increased linearly (p < 0.01) with increasing levels of B. alicastrum. Rumen pH was not affected by the incorporation of B. alicastrum (p > 0.05). Microbial nitrogen supply to the small intestine (p < 0.001), apparent digestibility of dry matter (p < 0.01) and NDF (p < 0.05) of the rations were also significantly increased as a result of the incorporation of B. alicastrum foliage. Results from this experiment suggest that the foliage of Brosimum alicastrum can be readily incorporated at around 30% of the ration of dry matter in hair sheep with beneficial effects on feed intake, rate of passage and microbial N supply to the lower tract.

5.
Angew Chem Int Ed Engl ; 63(6): e202314595, 2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-37991081

RESUMO

Lanthanides have unique photoluminescence (PL) emission properties, including very long PL lifetimes. This makes them ideal for biological imaging applications, especially using PL lifetime imaging microscopy (PLIM). PLIM is an inherently multidimensional technique with exceptional advantages for quantitative biological imaging. Unfortunately, due to the required prolonged acquisitions times, photobleaching of lanthanide PL emission currently constitutes one of the main drawbacks of PLIM. In this study, we report a small aqueous-soluble, lanthanide antenna, 8-methoxy-2-oxo-1,2,4,5-tetrahydrocyclopenta[de]quinoline-3-phosphonic acid, PAnt, specifically designed to dynamically interact with lanthanide ions, serving as exchangeable dye aimed at mitigating photobleaching in PLIM microscopy in cellulo. Thus, self-assembled lanthanide complexes that may be photobleached during image acquisition are continuously replenished by intact lanthanide antennas from a large reservoir. Remarkably, our self-assembled lanthanide complex clearly demonstrated a significant reduction of PL photobleaching when compared to well-established lanthanide cryptates, used for bioimaging. This concept of exchangeable lanthanide antennas opens new possibilities for quantitative PLIM bioimaging.


Assuntos
Elementos da Série dos Lantanídeos , Microscopia , Luminescência , Fotodegradação
6.
iScience ; 26(12): 108491, 2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-38094248

RESUMO

Foxp3 acetylation is essential to regulatory T (Treg) cell stability and function, but pharmacologically increasing it remains an unmet challenge. Here, we report that small-molecule compounds that inhibit TIP60, an acetyltransferase known to acetylate Foxp3, unexpectedly increase Foxp3 acetylation and Treg induction. Utilizing a dual experimental/computational approach combined with a newly developed FRET-based methodology compatible with flow cytometry to measure Foxp3 acetylation, we unraveled the mechanism of action of these small-molecule compounds in murine and human Treg induction cell cultures. We demonstrate that at low-mid concentrations they activate TIP60 to acetylate P300, a different acetyltransferase, which in turn increases Foxp3 acetylation, thereby enhancing Treg cell induction. These results reveal a potential therapeutic target relevant to autoimmunity and transplant.

7.
Cancers (Basel) ; 15(23)2023 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-38067283

RESUMO

(1) Background: Our purpose is to describe the design of a phase II clinical trial on 5-fraction proton therapy for chordomas and chondrosarcomas of the skull base and to present early results in terms of local control and clinical tolerance of the first prospective series. (2) Methods: A dose of 37.5 GyRBE in five fractions was proposed for chordomas and 35 GyRBE in five fractions for chondrosarcomas. The established inclusion criteria are age ≥ 18 years, Karnofsky Performance Status ≥ 70%, clinical target volume up to 50 cc, and compliance with dose restrictions to the critical organs. Pencil beam scanning was used for treatment planning, employing four to six beams. (3) Results: A total of 11 patients (6 chordomas and 5 chondrosarcomas) were included. The median follow-up was 12 months (9-15 months) with 100% local control. Acute grade I-II headache (64%), grade I asthenia and alopecia (45%), grade I nausea (27%), and grade I dysphagia (18%) were described. Late toxicity was present in two patients with grade 3 temporal lobe necrosis. (4) Conclusions: Hypofractionated proton therapy is showing encouraging preliminary results. However, to fully assess the efficacy of this therapeutic approach, future trials with adequate sample sizes and extended follow-ups are necessary.

8.
Parasite Immunol ; 45(12): e13013, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37795913

RESUMO

Chagas disease is caused by the Trypanosoma cruzi parasite and is transmitted by infected triatomine bugs. This infection affects approximately 8 million people in the Americas, and due to globalisation and displacement, it is becoming increasingly common to find infected patients worldwide. Diagnosis of the disease in its acute form is relatively simple, as the parasite can be detected in peripheral blood smears, and symptoms are visible. However, in its chronic condition, the parasite is almost undetectable, and indirect tests are necessary to determine the presence of antibodies in infected patients. It is important to note that a single test is not enough to confirm the disease in this phase, as a second serological test should confirm the diagnosis. If the results are contradictory, a third test should be performed to confirm or discard the disease. Unfortunately, laboratories may not have access to all necessary tests in many rural areas where the disease is more frequent. Rapid tests to diagnose this disease present problems, such as significant variations in sensitivity and specificity in different countries. Therefore, searching for new biomarkers that allow for optimal correlation is essential. In this work, we have searched scientific literature from the last 10 years for mentions of novel biomarkers for diagnosis, treatment follow-up, and prediction of cardiac complications in Chagas disease in its chronic phase.


Assuntos
Doença de Chagas , Trypanosoma cruzi , Humanos , Seguimentos , Doença de Chagas/complicações , Doença de Chagas/diagnóstico , Doença de Chagas/tratamento farmacológico , Doença Crônica , Biomarcadores
10.
Sci Total Environ ; 898: 165466, 2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-37451445

RESUMO

This study aims to picture the phenomenology of urban ambient total lung deposited surface area (LDSA) (including head/throat (HA), tracheobronchial (TB), and alveolar (ALV) regions) based on multiple path particle dosimetry (MPPD) model during 2017-2019 period collected from urban background (UB, n = 15), traffic (TR, n = 6), suburban background (SUB, n = 4), and regional background (RB, n = 1) monitoring sites in Europe (25) and USA (1). Briefly, the spatial-temporal distribution characteristics of the deposition of LDSA, including diel, weekly, and seasonal patterns, were analyzed. Then, the relationship between LDSA and other air quality metrics at each monitoring site was investigated. The result showed that the peak concentrations of LDSA at UB and TR sites are commonly observed in the morning (06:00-8:00 UTC) and late evening (19:00-22:00 UTC), coinciding with traffic rush hours, biomass burning, and atmospheric stagnation periods. The only LDSA night-time peaks are observed on weekends. Due to the variability of emission sources and meteorology, the seasonal variability of the LDSA concentration revealed significant differences (p = 0.01) between the four seasons at all monitoring sites. Meanwhile, the correlations of LDSA with other pollutant metrics suggested that Aitken and accumulation mode particles play a significant role in the total LDSA concentration. The results also indicated that the main proportion of total LDSA is attributed to the ALV fraction (50 %), followed by the TB (34 %) and HA (16 %). Overall, this study provides valuable information of LDSA as a predictor in epidemiological studies and for the first time presenting total LDSA in a variety of European urban environments.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Poluentes Atmosféricos/análise , Material Particulado/análise , Emissões de Veículos/análise , Monitoramento Ambiental/métodos , Poluição do Ar/análise , Poeira , Pulmão , Europa (Continente) , Tamanho da Partícula
11.
Front Neurol ; 14: 1184612, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37332983

RESUMO

Neuronal intranuclear inclusion disease (NIID), a neurodegenerative disease previously thought to be rare, is increasingly recognized despite heterogeneous clinical presentations. NIID is pathologically characterized by ubiquitin and p-62 positive intranuclear eosinophilic inclusions that affect multiple organ systems, including the brain, skin, and other tissues. Although the diagnosis of NIID is challenging due to phenotypic heterogeneity, a greater understanding of the clinical and imaging presentations can improve accurate and early diagnosis. Here, we present three cases of pathologically proven adult-onset NIID, all presenting with episodes of acute encephalopathy with protracted workups and lengthy time between symptom onset and diagnosis. Case 1 highlights challenges in the diagnosis of NIID when MRI does not reveal classic abnormalities and provides a striking example of hyperperfusion in the setting of acute encephalopathy, as well as unique pathology with neuronal central chromatolysis, which has not been previously described. Case 2 highlights the progression of MRI findings associated with multiple NIID-related encephalopathic episodes over an extended time period, as well as the utility of skin biopsy for antemortem diagnosis.

12.
Animals (Basel) ; 13(12)2023 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-37370451

RESUMO

In Mexico, pasture degradation is associated with extensive pastures; additionally, under these conditions, livestock activities contribute considerably to greenhouse gas (GHG) emissions. Among the options to improve grazing systems and reduce GHG emissions, silvopastoral systems (SPS) have been recommended. The objectives of this work were to quantify the N outflow in a soil-plant-animal interface, as well as the CH4 emissions and milk production in an SPS with woody legumes (Leucaena leucocephala) that is associated with stargrass (Cynodon nlemfuensis). This was then compared with stargrass in a monoculture system (MS) in the seasons (dry and rainy period) over a two-year period. Dung was collected from the animals of each of the grazing systems and applied fresh to the land plots. Fresh dung and urine were collected from the cows of each grazing system and were applied to the experimental plots. In addition, the soil CH4 and N2O contents were measured to quantify the emissions. Average milk yield by seasons was similar: MS (7.1 kg per animal unit (AU)/day-1) and SPS (6.31 kg per AU/day-1). Cows in the MS had a mean N intake of 171.9 g/UA day-1 without seasonal variation, while the SPS animals' mean N intake was 215.7 g/UA day-1 for both seasons. For the urine applied to soil, the N2O outflow was higher in the MS (peak value = 1623.9 µg N-N2O m-2 h-1). The peak value for the SPS was 755.9 µg of N-N2O m-2 h-1. The N2O emissions were higher in the rainy season (which promotes denitrification). The values for the feces treatment were 0.05% (MS) and 0.01% (SPS). The urine treatment values were 0.52% (MS) and 0.17% (SPS). The emissions of CH4 showed that the feces of the SPS systems resulted in a higher accumulation of gas in the rainy season (29.8 g C ha-1), followed by the feces of the MS system in the dry season (26.0 g C ha-1). Legumes in the SPS helped to maintain milk production, and the N2O emissions were lower than those produced by the MS (where the pastures were fertilized with N).

13.
Pensar mov ; 21(1)jun. 2023.
Artigo em Inglês | LILACS, SaludCR | ID: biblio-1521280

RESUMO

León, F., Mestre. A., Priego, L., & Vera, J.C. (2023). Morphological adaptations in response to chronic exercise across musculoskeletal tissues: a systematic review. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 21(1), 1-28. To date, there is no systematic review that summarizes the morphological adaptations of the musculoskeletal system in response to chronic exercise. This systematic review selected original articles published in English between 2000 and 2020, with a clear exercise intervention and presenting a morphological change in the tissue under study, and covering human participants irrespective of age, gender or health condition. In total, 2819 records were identified. After removal of duplicates, title and abstract screening and full-text review, 67 records were included in the final analysis (6 for inter-vertebral disc, 6 for cartilage, 36 for bone, 2 for ligament, 9 for tendon and 7 for muscle). The most used interventions were aerobic, resistance, and plyometric exercise. Population ranged from children and healthy active people to individuals with a health condition. In conclusion, as a response to chronic exercise there are morphological adaptations in the tissues of the musculoskeletal system which vary from increased stiffness to an increase in cross-sectional area. Although tissues can adapt, several questions still linger, such as optimal dose and type of exercise, whether adaptations can occur in an injured tissue, and functional implications of these adaptations. Future research should address these questions.


León, F., Mestre. A., Priego, L. y Vera, J.C. (2023). Adaptaciones morfológicas en respuesta al ejercicio crónico en los tejidos osteomusculares: una revisión sistemática. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 21(1), 1-28. Hasta la fecha, no existe una revisión sistemática que resuma las adaptaciones morfológicas del sistema osteomuscular en respuesta al ejercicio crónico. Esta revisión sistemática seleccionó artículos originales, con fecha de publicación de 2000 a 2020, idioma de publicación en inglés, con una clara intervención de ejercicio y que presentaron un cambio morfológico en el tejido estudiado. Participantes humanos independientemente de la edad, el género o condición de salud. Se identificaron 2819 registros. Después de eliminar los duplicados, la selección de títulos y resúmenes y la revisión de texto completo, se incluyeron 67 registros en el análisis final (6 para disco intervertebral, 6 para cartílago, 36 para hueso, 2 para ligamento, 9 para tendón y 7 para músculo). Los resultados destacan que las intervenciones más utilizadas fueron ejercicio aeróbico, contra resistencia y pliométrico. La población abarcó desde niños y personas sanas activas hasta personas con alguna condición de salud. Se concluye que como respuesta al ejercicio crónico existen adaptaciones morfológicas en los tejidos del sistema musculoesquelético, que pueden variar desde un aumento de rigidez hasta un aumento de área. Aunque los tejidos pueden adaptarse, aún quedan varias preguntas, como la dosis y tipo de ejercicio óptimo, si pueden ocurrir adaptaciones en un tejido lesionado y las implicaciones funcionales de estas adaptaciones. La investigación futura debe abordar estas preguntas.


León, F., Mestre. A., Priego, L. e Vera, J.C. (2023). Adaptações morfológicas em resposta ao exercício crônico nos tecidos osteomusculares: uma revisão sistemática. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 21(1), 1-28. Até o momento, não há uma revisão sistemática que resuma as adaptações morfológicas do sistema osteomuscular em resposta ao exercício crônico. Esta revisão sistemática selecionou artigos originais, com data de publicação de 2000 a 2020, idioma de publicação em inglês, com clara intervenção de exercícios e que apresentaram alteração morfológica no tecido estudado. Participantes humanos, independentemente da idade, sexo ou condição de saúde. Foram identificados 2.819 registros. Após eliminar os artigos duplicados, triagem de título e resumo e revisão do texto completo, 67 registros foram incluídos na análise final (6 para disco intervertebral, 6 para cartilagem, 36 para osso, 2 para ligamento, 9 para tendão e 7 para músculo). Os resultados destacam que as intervenções mais utilizadas foram exercícios aeróbicos, resistidos e pliométricos. A população variou de crianças e pessoas saudáveis ativas a pessoas com alguma condição de saúde. Conclui-se que, em resposta ao exercício crônico, ocorrem adaptações morfológicas nos tecidos do sistema musculoesquelético, que podem variar desde um aumento de rigidez até um aumento de área. Embora os tecidos possam se adaptar, várias questões permanecem, como a dose ideal e o tipo de exercício, se adaptações podem ocorrer no tecido lesado e as implicações funcionais dessas adaptações. Pesquisas futuras devem abordar essas questões.


Assuntos
Humanos , Exercício Físico , Estilo de Vida , Sistema Musculoesquelético
14.
Neuromuscul Disord ; 33(6): 463-467, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37119590

RESUMO

TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and mitochondrial homoeostasis as the underlying pathophysiology. We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual disability caused by the recurrent deletion of exons 3-9 in homozygosity in the TANGO2 gene. Physical examination revealed hyperlordosis, waddling gait, calf pseudohypertrophy, and Aquilian tendon retractions. Laboratory investigations revealed elevation of serum biomarkers suggestive of mitochondrial dysfunction together with hypothyroidism. At the age of 24, the patient suffered a metabolic crisis with severe rhabdomyolysis and malignant cardiac arrhythmia. After recovery, no metabolic or arrhythmic crisis has recurred. Muscle histology two years later revealed increased endomysial fibrosis and other myopathic changes. Our findings illustrate the mildest end of the phenotypic spectrum of TANGO2-related disease and reveal further aspects related to chronic muscle damage in this disorder.


Assuntos
Deficiência Intelectual , Doenças Musculares , Rabdomiólise , Feminino , Humanos , Adulto , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/patologia , Éxons , Rabdomiólise/genética , Homozigoto
15.
J Hum Genet ; 68(8): 527-532, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36959467

RESUMO

RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic variants in this gene result in familial mitochondrial disease in adults and children, secondary to a maintenance disorder of mtDNA. This study describes two patients, mother and son, with early-onset chronic progressive external ophthalmoplegia (PEO). Skeletal muscle biopsy from the latter was examined: cytochrome c oxidase (COX)-negative fibres were shown, and molecular studies revealed multiple mtDNA deletions. A next-generation sequencing gene panel for nuclear-encoded mitochondrial maintenance genes identified two unreported heterozygous missense variants (c.514 G > A and c.682 G > A) in the clinically affected son. The clinically affected mother harboured the first variant in homozygous state, and the clinically unaffected father harboured the remaining variant in heterozygous state. In silico analyses predicted both variants as deleterious. Cell culture studies revealed that patients' skin fibroblasts, but not fibroblasts from healthy controls, responded to nucleoside supplementation with enhanced mtDNA repopulation, thus suggesting an in vitro functional difference in patients' cells. Our results support the pathogenicity of two novel RRM2B variants found in two patients with autosomal recessive PEO with multiple mtDNA deletions inherited with a pseudodominant pattern.


Assuntos
Oftalmoplegia Externa Progressiva Crônica , Oftalmoplegia , Ribonucleotídeo Redutases , Adulto , Criança , Humanos , Oftalmoplegia Externa Progressiva Crônica/genética , Oftalmoplegia Externa Progressiva Crônica/patologia , Padrões de Herança , DNA Mitocondrial/genética , Ribonucleotídeo Redutases/genética , Proteínas de Ciclo Celular/genética
16.
Front Plant Sci ; 14: 1123045, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36875560

RESUMO

The objective of this work was to validate the trunk water potential (Ψtrunk), using emerged microtensiometer devices, as a potential biosensor to ascertain plant water status in field-grown nectarine trees. During the summer of 2022, trees were subjected to different irrigation protocols based on maximum allowed depletion (MAD), automatically managed by real-time soil water content values measured by capacitance probes. Three percentages of depletion of available soil water (α) were imposed: (i) α=10% (MAD=27.5%); (ii) α=50% (MAD=21.5%); and (iii) α=100%, no-irrigation until Ψstem reached -2.0 MPa. Thereafter, irrigation was recovered to the maximum water requirement of the crop. Seasonal and diurnal patterns of indicators of water status in the soil-plant-atmosphere continuum (SPAC) were characterised, including air and soil water potentials, pressure chamber-derived stem (Ψstem) and leaf (Ψleaf) water potentials, and leaf gas exchange, together with Ψtrunk. Continuous measurements of Ψtrunk served as a promising indicator to determine plant water status. There was a strong linear relationship between Ψtrunk vs. Ψstem (R2 = 0.86, p<0.001), while it was not significant between Ψtrunk vs. Ψleaf (R2 = 0.37, p>0.05). A mean gradient of 0.3 and 1.8 MPa was observed between Ψtrunk vs.Ψstem and Ψleaf, respectively. In addition, Ψtrunk was the best matched to the soil matric potential. The main finding of this work points to the potential use of trunk microtensiometer as a valuable biosensor for monitoring the water status of nectarine trees. Also, trunk water potential agreed with the automated soil-based irrigation protocols implemented.

17.
Pain Physician ; 26(2): 197-206, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36988365

RESUMO

BACKGROUND: Treatment of intermediate-stage painful degenerative disc disease is controversial, with few reliable options. Allogenic mesenchymal stem cells (MSCs)are an alternative to autologous stem cell transplantation. Allogeneic MSCs in the treatment of discogenic low back pain have some practical advantages, ranging from availability to ease of treatment in a procedure-room setting. OBJECTIVES: To assess the efficacy and safety of allogenic MSC injection into painful lumbar intervertebral discs and associated clinical outcomes. STUDY DESIGN: Retrospective observational cohort study. SETTING: Private practice. METHODS: There were 33 patients: 15 women and 18 men with an average age of 47.6 years. The patients' average follow-up was 26.88 months Patients were treated with intradiscal injection of approximately 5 million allogeneic polyclonal MSCs in 1% hyaluronic acid derived from immunoselected umbilical cord stem cells. Patients were monitored for adverse event reactions. Clinical outcomes were assessed with reductions in the reported Visual Analog Scale (VAS) for back pain, the Oswestry Disability Index (ODI) scores, and the use of the modified Macnab criteria. RESULTS: No patient required any additional treatments for low back pain stemming from the level treated with MSC injections. At a 2-year follow-up, the average VAS low back score reduction was 6.565 ± 1.619 and 38.333 ± 14.865 for the ODI (P < 0.001). Reported Macnab outcomes were excellent in 11 patients (33.3%), good in 19 (57.6%), and fair in 3 (9.1%). LIMITATIONS: Our observational study is limited by patient selection, hindsight bias, and low patient numbers. CONCLUSION: The results of our feasibility study suggest that the injection of allogeneic MSCs to treat patients with painful intermediate-stage degenerative disc disease has merit. No adverse reactions were observed. The authors recommend further study in a randomized prospective study setting with a placebo control group or a natural history study group of patients to solidify this research.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Degeneração do Disco Intervertebral , Deslocamento do Disco Intervertebral , Disco Intervertebral , Dor Lombar , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Degeneração do Disco Intervertebral/complicações , Degeneração do Disco Intervertebral/cirurgia , Dor Lombar/tratamento farmacológico , Estudos Prospectivos , Estudos Retrospectivos , Transplante Autólogo , Resultado do Tratamento , Vértebras Lombares
18.
Plants (Basel) ; 12(4)2023 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-36840255

RESUMO

This field experiment focuses on the effects of a heavy rainfall event (DANA, depresión aislada en niveles altos) that occurred on 12-14 September 2019 (DOY, Day of the year, 255-257), in southern Spain on plant water status and the thermal response of nectarine trees. Two irrigation treatments were applied during the summer-autumn postharvest period (DOY 158-329): full-irrigated (CTL) and non-irrigated (DRY). Volumetric soil water content (θv), air temperature (Ta) and canopy temperature (Tc) were monitored in real-time and the crop water stress index (CWSI) was calculated. The difference in Tc between the DRY and CTL treatments (Tc' - Tc) is proposed as a new thermal indicator. Stem water potential (Ψstem) and leaf gas exchange measurements were recorded on representative days. During the DANA event, only the Tc measured by the infrared radiometer sensors could be monitored. Therefore, the effects of the DANA forced the soil water content sensors to be switched off, which prevented Ψstem and leaf gas exchange determinations from DOY 255 to 275. Before the DANA event, withholding irrigation caused a gradual decrease in the soil and plant water status in the DRY treatment. Significant differences appeared between treatments in the studied thermal indexes. Moreover, Tc' - Tc was more sensitive than Tc - Ta in assessing nectarine water stress. The effects of the DANA reduced these differences, suggesting different baselines for the calculation of CWSI. In this respect, the relationship Tc - Ta vs. VPD improved the coefficient of determination after the DANA event in full-irrigated trees. Similar values of Ψstem and leaf gas exchange were found in both treatments after the DANA event, even though thermal indexes showed some significant differences. In addition, the strong relationship found between Tc - Ta and CWSI vs. Ψstem worsened after DANA occurred, revealing a lower sensitivity of Ψstem compared to canopy temperature to accurately assess nectarine water status in these saturated soil conditions. This research underlined the robustness of infrared thermography to continuously monitor plant water status under these extreme weather conditions.

19.
Plants (Basel) ; 12(3)2023 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-36771588

RESUMO

The aim of this study was to test the combined effect of water stress and cropping system on yield and fruit quality in Bearss lime trees. For this purpose, two irrigation treatments were applied during stage II of fruit growth: control (well irrigated, automatically managed by soil water content sensors) and stress (non-irrigated), both under open-field and shaded conditions. Soil water status was assessed by determining soil water content and plant water status by measuring stem water potential (Ψstem), stomatal conductance (gs), and net photosynthesis (Pn). Yield parameters (kg and the number of fruits per tree and fresh mass per fruit) and fruit quality were assessed on two harvest dates. In addition, on the second harvest date, the content of metabolites and nutrients in the lime juice was analyzed. The results showed that soil water deficit induced 35% lower gs values in open-field than in shaded conditions. The highest kg and the number of fruits per tree were observed in the shaded system, especially on the first harvest date. The lowest yield was observed in stressed trees grown without netting. Slightly higher fresh mass and equatorial diameter were observed in shaded fruits than in open-field fruit. Soil water deficit increased fruit total soluble solids and decreased juice content, especially in open-field trees. Shaded conditions made the lime trees more resilient to soil water deficit, which led to higher yields and better external fruit quality traits. In addition, fruit precocity was significantly higher in the shaded system.

20.
Environ Int ; 172: 107744, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36696793

RESUMO

The 2017-2019 hourly particle number size distributions (PNSD) from 26 sites in Europe and 1 in the US were evaluated focusing on 16 urban background (UB) and 6 traffic (TR) sites in the framework of Research Infrastructures services reinforcing air quality monitoring capacities in European URBAN & industrial areaS (RI-URBANS) project. The main objective was to describe the phenomenology of urban ultrafine particles (UFP) in Europe with a significant air quality focus. The varying lower size detection limits made it difficult to compare PN concentrations (PNC), particularly PN10-25, from different cities. PNCs follow a TR > UB > Suburban (SUB) order. PNC and Black Carbon (BC) progressively increase from Northern Europe to Southern Europe and from Western to Eastern Europe. At the UB sites, typical traffic rush hour PNC peaks are evident, many also showing midday-morning PNC peaks anti-correlated with BC. These peaks result from increased PN10-25, suggesting significant PNC contributions from nucleation, fumigation and shipping. Site types to be identified by daily and seasonal PNC and BC patterns are: (i) PNC mainly driven by traffic emissions, with marked correlations with BC on different time scales; (ii) marked midday/morning PNC peaks and a seasonal anti-correlation with PNC/BC; (iii) both traffic peaks and midday peaks without marked seasonal patterns. Groups (ii) and (iii) included cities with high insolation. PNC, especially PN25-800, was positively correlated with BC, NO2, CO and PM for several sites. The variable correlation of PNSD with different urban pollutants demonstrates that these do not reflect the variability of UFP in urban environments. Specific monitoring of PNSD is needed if nanoparticles and their associated health impacts are to be assessed. Implementation of the CEN-ACTRIS recommendations for PNSD measurements would provide comparable measurements, and measurements of <10 nm PNC are needed for full evaluation of the health effects of this size fraction.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Material Particulado/análise , Poluentes Atmosféricos/análise , Emissões de Veículos/análise , Tamanho da Partícula , Monitoramento Ambiental , Poluição do Ar/análise , Europa (Continente) , Cidades , Fuligem
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