Miracle-dz/UniFAR-FTUs huggingface dataset:
Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia.

Importance Individuals with tuberous sclerosis complex can develop a progressive neuropsychiatric syndrome known as tuberous sclerosis-associated neuropsychiatric disorders. Tuberous sclerosis-associated neuropsychiatric disorders symptoms overlap with clinical criteria for frontotemporal dementia, yet the association between the 2 has not been explored. Objective To investigate the potential association between tuberous sclerosis-associated neuropsychiatric disorders and frontotemporal dementia. Design, Setting, and Participants Case-control study that enrolled patients with tuberous sclerosis complex with normal IQs in an observational clinical study at the University of California, San Francisco, from 2017 to 2019 where they underwent a comprehensive clinical evaluation including neuropsychologic testing, cerebral spinal fluid biomarker profiling, and structural neuroimaging. The study included adults who fulfilled the clinical criteria for tuberous sclerosis complex and had normal IQs, had frontotemporal dementia, or were healthy control individuals. Main Outcomes and Measures Tuberous sclerosis-associated neuropsychiatric disorders checklist severity score, neuropsychologic test scores, cerebral spinal fluid concentrations of phosphorylated tau181, total tau, amyloid-β 42, and neurofilament light chain. Amyloid and tau positron emission tomography scans were obtained in a subset of patients. Results Eighteen patients with tuberous sclerosis complex (mean [SD] age, 48 years [9.54]; 13 women [72%]), 16 with frontotemporal dementia (60 [6.93] years; 7 women [44%]) and 18 healthy control individuals (63 [3.85] years; 9 women [50%]) were included. The tuberous sclerosis-associated neuropsychiatric disorders checklist and neuropsychological test results were not significantly different when the tuberous sclerosis complex and frontotemporal dementia cohorts were compared. The tuberous sclerosis complex cohort exhibited elevated cerebral spinal fluid phosphorylated tau181 and neurofilament light chain with a mean of 32 pg/mL and 2300 pg/mL, respectively, when compared to healthy control individuals. All 3 patients with tuberous sclerosis complex who underwent fluorine 1B-labeled flortaucipir tau positron emission tomographic neuroimaging showed punctate foci of elevated [18F]flortaucipir binding in the frontal and temporal regions. Conclusions and Relevance Adults with tuberous sclerosis complex showed phenotypic overlap with frontotemporal dementia. The results support a possible clinical continuum between tuberous sclerosis-associated neuropsychiatric disorders and frontotemporal dementia and highlights a potential pathophysiological link between neurodevelopmental and neurodegenerative processes. Quantitative neuropsychological testing and the tuberous sclerosis-associated neuropsychiatric disorders checklist, potentially supplemented by cerebral spinal fluid and imaging biomarkers, could be used to screen and prognosticate for risk of a neurodegenerative process in adult patients with tuberous sclerosis complex.
Utility of citizen science data: A case study in land-based shark fishing

Involving citizen scientists in research has become increasingly popular in natural resource management and allows for an increased research effort at low cost, distribution of scientific information to relevant audiences, and meaningful public engagement. Scientists engaging fishing tournament participants as citizen scientists represent ideal scenarios for testing citizen science initiatives. For example, the Texas Shark Rodeo has begun shifting to conservation-oriented catch-and-release practices, which provides a unique opportunity to collect data on a large scale for extended periods of time, particularly through tagging large numbers of sharks for very little cost compared to a directed scientific study. However, critics are somewhat skeptical of citizen science due to the potential for lack of rigor in data collection and validation. A major management concern for shark fisheries is the ability of anglers to identify species. We tested some of the assumptions and value of citizen-collected data by cross-verifying species identification. Specifically, the purpose of this study was to evaluate the accuracy of shark species identifications made by anglers fishing in the Texas Shark Rodeo using photographs that were submitted as a requirement for tournament participation. Using a confusion matrix, we determined that anglers correctly identified 97.2% of all shark catches submitted during the Texas Shark Rodeo from 2014–2018; however, smaller sharks and certain species, including blacknose and spinner sharks, were more difficult to identify than others. Most commonly confused with blacktip sharks, spinner sharks were most commonly identified incorrectly (76.1% true positive rate [TPR]) followed by blacknose (86.8% TPR), finetooth (88.0% TPR), and Atlantic sharpnose sharks (93.8% TPR). This study demonstrated that citizen scientists have the ability to identify sharks with relatively low error. This is important for science and management, as these long-term datasets with relatively wide geographic scope could potentially be incorporated into future assessments of sharks in the Gulf of Mexico.
Choroidal hyper-reflective foci and vascularity in retinal dystrophy

Purpose: To investigate choroidal hyper-reflective foci (HRF) in subjects with retinal dystrophy [Stargardt's disease (SGD) and retinitis pigmentosa (RP)] and their association with demographics, visual acuity, choroidal thickness (CT), and choroidal vascularity index (CVI). Methods: Single center retrospective study of subjects with previously diagnosed SGD or RP. Swept-source optical coherence tomography images were analyzed for the presence of choroidal HRFs and CVI using previously validated automated algorithm. A Spearman's rank correlation coefficient was used to evaluate the correlation between the number of HRF and various baseline parameters including age, visual acuity, intraocular pressure, and other optical coherence tomography (OCT) parameters (CT, choroidal area, and CVI) were evaluated in these subjects. Results: This study included 46 eyes (23 subjects) and 55 eyes (28 subjects) with previously diagnosed RP and SGD, respectively. In the RP group, the mean number of HRFs was 247.9 ± 57.1 and mean CVI was 0.56 ± 0.04. In SGD group, mean HRF was 192.5 ± 44.3 and mean CVI was 0.41 ± 0.04. Mean HRF was significantly greater in the RP group (0.02), however, the mean CVI was not statistically different. In RP, mean HRF were correlated only with CVI (r = 0.49; P = 0.001), however, in SGD, it correlated with only choroidal area (r = 0.27; P = 0.04). Conclusion: Choroidal HRF were present in both RP and SGD subjects with more HRFs in those with RP. These HRFs were associated with alteration in choroidal vascularity, which further adds into the pathogenesis of these diseases.
Desigualdades en salud según régimen de afiliación y eventos notificados al Sistema de Vigilancia (Sivigila) en Colombia, 2015

Resumen Introducción. Las desigualdades en salud se generan por diferencias en las condiciones sociales y económicas, lo cual influye en el riesgo de enfermar y la forma de enfrentar la enfermedad. Objetivo. Evaluar las desigualdades sociales en salud en Colombia, utilizando el tipo de afiliación al sistema de salud como un parámetro representativo (proxy) de la condición socioeconómica. Materiales y métodos. Se trata de un análisis descriptivo y retrospectivo en el que se calcularon las tasas específicas de incidencia, ajustadas por edad y sexo, para eventos de notificación obligatoria, utilizando el régimen de afiliación (subsidiado o contributivo) como variable representativa del nivel socioeconómico. Las estimaciones se hicieron a nivel departamental para el 2015. Las desigualdades sociales se calcularon en términos de brechas absolutas y relativas. Resultados. Se evidencian desigualdades sociales en la ocurrencia de eventos de notificación obligatoria, las cuales desfavorecen a la población afiliada al régimen subsidiado. En esta población, se reportaron 82,31 casos más de malaria Plasmodium falciparum por 100.000 afiliados, que los notificados en el régimen contributivo. Respecto a la brecha relativa, el pertenecer al régimen subsidiado se asocia con un aumento de 31,74 veces del riesgo de morir por desnutrición en menores de cinco años. Otros eventos también presentaron profundas desigualdades, como los relacionados con la salud sexual y reproductiva (mortalidad materna, sífilis gestacional y sífilis congénita), las enfermedades infecciosas y las enfermedades transmisibles relacionadas con la pobreza (lepra y tuberculosis). Conclusión. El tipo de afiliación al Sistema General de Seguridad Social en Salud en Colombia es un buen indicador del nivel socioeconómico, y es un factor predictor de mayor morbilidad y mortalidad prematura asociada con los factores determinantes sociales de la salud.
Determinants of the diminished exercise capacity in patients with chronic obstructive pulmonary disease: looking beyond the lungs

Peak oxygen uptake, a primary determinant of prognosis, mortality and quality of life, is diminished in patients with chronic obstructive pulmonary disease (COPD), with mounting evidence supporting an important role for peripheral dysfunction, particularly within skeletal muscle. In patients with severe COPD and activity‐matched controls, muscle oxygen transport and utilization were assessed at peak effort during single‐leg knee‐extensor exercise (KE), where ventilation is assumed to be submaximal. This strategy removes ventilation as the major constraint to exercise capacity in COPD, allowing maximal muscle function to be attained and evaluated. During maximal KE, both convective arterial oxygen delivery to the skeletal muscle microvasculature and subsequent diffusive oxygen delivery to the mitochondria were diminished in patients with COPD compared to control subjects. These findings emphasize the importance of factors, beyond the lungs, that influence exercise capacity in this patient population and may, ultimately, influence the prognosis, mortality and quality of life for patients with COPD.
Multiple sclerosis

Multiple sclerosis is a chronic, unpredictable, and disabling disease. Significant advances have been made in recent years supporting an earlier, more accurate, diagnosis and have led to more than 15 disease-modifying therapies approved by the Food and Drug Administration for relapsing forms of multiple sclerosis. Disease-modifying therapies are now being classified into categories based on level of efficacy. Strategies to use disease-modifying therapies earlier and in a more customizable manner are also emerging. A clinical case study will be used throughout this pearl to review the disease-modifying therapies and use patient-specific factors to develop and provide recommendations on therapeutic strategies for individuals with relapsing forms of multiple sclerosis.
LncRNA HCG11 accelerates the progression of hepatocellular carcinoma via miR-26a-5p/ATG12 axis.

OBJECTIVE Hepatocellular carcinoma (HCC) is one of the most commonly diagnosed cancers globally. LncRNA HLA complex group 11 (HCG11) has been reported to play an oncogenic role in multiple cancers. Nevertheless, the role and regulatory mechanism of HCG11 in HCC are not fully addressed. PATIENTS AND METHODS The abundance of HCG11 and miR-26a-5p was measured by quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) in HCC tissues and cells. Cell proliferation, apoptosis, metastasis, and autophagy were detected by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT), flow cytometry, transwell migration, invasion assays, and Western blot assay, respectively. The binding sites between miR-26a-5p and HCG11 or autophagy-related 12 (ATG12) were predicted by starBase bioinformatic software, and the combination was confirmed by Dual-Luciferase reporter assay. The abundance of ATG12 was examined by Western blot assay. Murine xenograft model was established to validate the function of HCG11 in vivo. RESULTS The enrichment of HCG11 was enhanced in HCC tissues and cells and was negatively related to the prognosis of HCC patients. The abundance of miR-26a-5p was inversely correlated with the level of HCG11 in HCC tissues. HCG11 interference suppressed the proliferation, metastasis, and autophagy while promoted the apoptosis of HCC cells. MiR-26a-5p bound to lncRNA HCG11 and ATG12. The depletion of miR-26a-5p or the accumulation of ATG12 could alleviate the suppressive effects induced by HCG11 intervention on the proliferation, metastasis, autophagy, and the promoting impact on the apoptosis of HCC cells. HCG11 promoted the growth of murine xenograft tumor and autophagy through miR-26a-5p/ATG12 axis in vivo. CONCLUSIONS LncRNA HCG11 accelerated the proliferation, metastasis, and autophagy while impeded the apoptosis of HCC cells via HCG11/miR-26a-5p/ATG12 axis. HCG11 might be a potential therapeutic target for the treatment of HCC.
How enzyme promiscuity and horizontal gene transfer contribute to metabolic innovation

Promiscuity is the coincidental ability of an enzyme to catalyze its native reaction and additional reactions that are not biological functions in the same active site. Promiscuity plays a central role in enzyme evolution and is thus a useful property for protein and metabolic engineering. This review examines enzyme evolution holistically, beginning with evaluating biochemical support for four enzyme evolution models. As expected, there is strong biochemical support for the subfunctionalization and innovation–amplification–divergence models, in which promiscuity is a central feature. In many cases, however, enzyme evolution is more complex than the models indicate, suggesting much is yet to be learned about selective pressures on enzyme function. A complete understanding of enzyme evolution must also explain the ability of metabolic networks to integrate new enzyme activities. Hidden within metabolic networks are underground metabolic pathways constructed from promiscuous activities. We discuss efforts to determine the diversity and pervasiveness of underground metabolism. Remarkably, several studies have discovered that some metabolic defects can be repaired via multiple underground routes. In prokaryotes, metabolic innovation is driven by connecting enzymes acquired by horizontal gene transfer (HGT) into the metabolic network. Thus, we end the review by discussing how the combination of promiscuity and HGT contribute to evolution of metabolism in prokaryotes. Future studies investigating the contribution of promiscuity to enzyme and metabolic evolution will need to integrate deeper probes into the influence of evolution on protein biophysics, enzymology, and metabolism with more complex and realistic evolutionary models.
Microstructural Integrity of Salvaged Penumbra after Mechanical Thrombectomy

BACKGROUND AND PURPOSE: There are sparse data on the microstructural integrity of salvaged penumbral tissue after mechanical thrombectomy of large-vessel occlusions. The aim of the study was to analyze possible microstructural alteration in the penumbra and their association with clinical symptoms as well as angiographic reperfusion success in patients undergoing mechanical thrombectomy. MATERIALS AND METHODS: All patients who underwent mechanical thrombectomy for large-vessel occlusions in the anterior circulation and who received an admission CT perfusion together with postinterventional DTIs were included (n = 65). Angiographic reperfusion success by means of modified Thrombolysis in Cerebral Infarction (mTICI) scale and clinical outcome were recorded. Microstructural integrity was assessed by DTI evaluating the mean diffusivity index within the salvaged gray matter of the former penumbra. RESULTS: The mean diffusivity index was higher in completely recanalized patients (mTICI 3: −0.001 ± 0.034 versus mTICI <3: −0.030 ± 0.055, P = .03). There was a positive correlation between the mean diffusivity index and NIHSS score improvement (r = 0.49, P = .003) and the mean diffusivity index was associated with midterm functional outcome (r = –0.37, P = .04) after adjustment for confounders. In mediation analysis, the mean diffusivity index and infarction growth mediated the association between reperfusion success and clinical outcomes. CONCLUSIONS: The macroscopic salvaged penumbra included areas of microstructural integrity changes, most likely related to the initial hypoperfusion. These abnormalities were found early after mechanical thrombectomy, were dependent on angiographic results, and correlated with the clinical outcome. When confirmed, these findings prompt the evaluation of therapies for protection of the penumbral tissue integrity.
Developmental stages of biofilm and characterization of extracellular matrix of manglicolous fungus Aspergillus niger BSC‐1

Fungal biofilm is ubiquitous in natural environment. The major constituent of fungal biofilm other than biomass is the extracellular matrix (ECM), in which fungal hyphae are embedded. Physical properties of biofilms such as attachment, mechanical strength, and antibiotic resistance can be attributed to ECM. The present work probes various stages of biofilm formation by filamentous manglicolous fungus Aspergillus niger BSC‐1. The spectroscopic analysis revealed that with an increase in incubation time the biofilm formation was significantly increased (p < .0001) up to 36 h. Scanning electron micrograph and confocal micrograph depicted the development of fungal biofilm comprising of six stages, that is, (a) adsorption, (b) active attachment, (c) germling and monolayer formation, (d) hyphal development and formation of ECM, (e) maturation of ECM, and (f) dispersal of spores. At maturation stage, thickness of biofilm was observed upto approximately 15 μm. Approximately, 8.1 mg of ECM materials were extracted from 20 ml of broth culture using ethanol precipitation method. Furthermore, attenuated total reflectance Fourier‐transformed infrared spectroscopic analysis exhibited peaks at 3,398, 2,930, 1,571, 1,391, 1,092, 977 cm−1 which confirmed the presence of protein, carbohydrate, and lipid in the biofilm‐associated matrix.
The Cyphomyrus Myers 1960 (Osteoglossiformes: Mormyridae) of the Lufira Basin (Upper Lualaba: DR Congo): a generic reassignment and the description of a new species.

Within a comparative morphological framework, Hippopotamyrus aelsbroecki, only known from the holotype originating from Lubumbashi, most probably the Lubumbashi River, a left bank sub-affluent of the Luapula River, is reallocated to the genus Cyphomyrus. This transfer is motivated by the fact that H. aelsbroecki possesses a rounded or vaulted pre-dorsal profile, an insertion of the dorsal fin far anterior to the level of the insertion of the anal fin, and a compact, laterally compressed and deep body. In addition, a new species of Cyphomyrus is described from the Lufira basin; C. lufirae. Cyphomyrus lufirae was collected in large parts of the Middle Lufira, upstream of the Kyubo Falls, and also just downstream of these falls in the lower Lufira and its nearby left bank affluent, the Luvilombo River. The new species, is distinguished from its congeners, that is C. aelsbroecki, C. cubangoensis and C. discorhynchus by a deep caudal peduncle, 6.9-8.4% LS (vs. shallow, 5.3, 6.1-6.7 and 5.7-7.0% LS respectively) and a large pre-pelvic distance, 41.0-43.8% LS (vs. shorter, 39.7, 38.9-39.1 and 37.0-41.0% LS respectively). The description of yet another new species for science for the Upemba National Park and also the Kundelungu National Park further highlights their uttermost importance for fish protection and conservation in the area. Hence, the indispensable urgent need for the full integration of fish into the management plans of these parks is emphasized. This article is protected by copyright. All rights reserved.
A pilot study of a new bereavement program for children: Lionheart Camp for Kids

Abstract We assessed the acceptability and effectiveness of a new childhood bereavement service known as Lionheart Camp for Kids. Using a pre-post-follow-up design, data pertaining to 12 bereaved children (aged 5–12 years) and their primary caregivers were obtained. Results showed that caregivers reported decreases in children’s peer relationship problems, improvements in parental consistency, and reductions in coercive parenting, and there was a trend toward lower self-reported grief by the children. Caregivers were highly satisfied with the program. There is a need for a wait-list or randomized controlled trial over a longer time period to determine the full benefits of the camp.
Mechanical coordination is sufficient to promote tissue replacement during metamorphosis in Drosophila

During development, cells coordinate to organize in coherent structures. Although it is now well established that physical forces are essential for implementing this coordination, the instructive roles of mechanical inputs are not clear. Here, we show that the replacement of the larval epithelia by the adult one in Drosophila demands the coordinated exchange of mechanical signals between two cell types, the histoblasts (adult precursors) organized in nests and the surrounding larval epidermal cells (LECs). An increasing stress gradient develops from the center of the nests toward the LECs as a result of the forces generated by histoblasts as they proliferate and by the LECs as they delaminate (push/pull coordination). This asymmetric radial coordination of expansive and contractile activities contributes to epithelial replacement. Our analyses support a model in which cell–cell mechanical communication is sufficient for the rearrangements that implement epithelial morphogenesis.
Peer victimization, depression, and sexual risk behaviors among high school youth in the United States: a gender-based approach

Abstract Background and objectives Little research has examined how different types of peer victimization (i.e. school bullying, cyber-bullying, and physical and sexual dating violence) predict sexual risk behaviors and how depression may mediate the relationship of such behaviors with types of peer victimization. Few works have investigated gender differences in these direct and indirect associations as well. This study, therefore, examined gender differences in the direct and indirect associations among four types of peer victimization, depression, and sexual risk behaviors in United States (US) high school students. Materials and methods Data were drawn from the 2015 Youth Risk Behavior System Survey, collected by the U.S. Centers for Disease Control and Prevention. A multigroup path analysis was conducted using a national sample of high school students who reported having ever engaged in sexual intercourse (n = 5,288). Results All the peer victimization variables positively predicted depressive symptoms for both females and males. The direct effects of physical and sexual dating violence were associated with increased sexual risk behaviors for females and males. However, school-bullying victimization did not significantly predict sexual risk behaviors for either gender. Cyber-bullying victimization significantly predicted increased sexual risk behaviors for males only. Among indirect effects, depression positively mediated the relationship between cyber-bullying victimization and sexual risk behaviors for males only. Conclusions Our findings suggest that male adolescents who are victimized may actually be at higher risk of negative outcomes compared to their female adolescent peers. This study highlights the need to pay attention to male victims who may be ashamed to self-identify and difficult to detect in cyber-bullying.