Miracle-dz/UniFAR-FTUs huggingface dataset:
Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness)

OBJECTIVE—Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. RESEARCH DESIGN AND METHODS—We evaluated six Italian children from five unrelated families. Genetic analysis for Wolfram syndrome was performed by PCR amplification and direct sequencing. RESULTS—Mutation screening revealed five distinct variants, one novel mutation (c.1346C>T; p.T449I) and four previously described, all located in exon 8. CONCLUSIONS—Phenotype-genotype correlation is difficult, and the same mutation gives very different phenotypes. Severely inactivating mutations result in a more severe phenotype than mildly inactivating ones. Clinical follow-up showed the progressive syndrome's seriousness.
Radiation induced damage and recovery in poly(3-hexyl thiophene) based polymer solar cells

Polymer solar cells have been characterized during and after x-ray irradiation. The open circuit voltage, dark current and power conversion efficiency show degradation consistent with the generation of defect states in the polymer semiconductor. The polymer solar cell device remained functional with exposure to a considerable dose (500 krad (SiO2)) and showed clear signs of recovery upon removal of the irradiation source (degraded from 4.1% to 2.2% and recovered to 2.9%). Mobility–relaxation time variation, derived from J–V measurement, clearly demonstrates that radiation induced defect generation mechanisms in the organic semiconductor are active and need to be further studied. Optical transmission results ruled out the possibility of reduced light absorption and/or polymer crystallinity. The results suggest that organic solar cells are sufficiently radiation tolerant to be useful for space applications.
Repetitive short‐course hepatic arterial infusion chemotherapy with high‐dose 5‐fluorouracil and cisplatin in patients with advanced hepatocellular carcinoma

Hepatic arterial infusion chemotherapy (HAIC) has often been selected as a therapeutic option for patients with advanced hepatocellular carcinoma (HCC). The objective of the current study was to evaluate the efficacy and safety of repetitive HAIC with high‐dose 5‐fluorouracil (5‐FU) and cisplatin given for 3 days in patients with advanced HCC.
Modeling of the Effects of Wintertime Aerosols on Boundary Layer Properties Over the Indo Gangetic Plain

Wintertime fog and severe aerosol loading in the boundary layer over South Asia, especially Indo Gangetic Plain (IGP), causes disruptions in the day‐to‐day life of millions of people living in the region, and these heavy pollution episodes result in relentless effects on human health. Weather Research Forecasting model coupled with aerosol chemistry is used to investigate the radiative effects and feedbacks of aerosols on the evolution and structure of the planetary boundary layer over the region. In general, aerosols lead to cooling at the surface, which decreases the nonradiative fluxes (latent and sensible heat fluxes), weakens the turbulent diffusion, and inhibits/delays the growth of convective boundary layer. The impact was maximum over IGP where aerosol‐induced solar dimming (60–80 W/m2) led to a cooling of −0.6 to −2 ° C at the surface, which decreases the noontime boundary layer height by ∼200 m. This effect overwhelms the diabatic heating due to absorbing aerosols in the atmosphere. The significant decrease in sensible (∼11–23 W/m2) and latent heat flux (5–14 W/m2) was observed over IGP and western India. Aerosol boundary layer interaction increases the aerosol loading near the surface (PM2.5) by 3 to 30 μg/m3, which further deteriorate the air quality and visibility over the region. The aerosol forcing increases the relative humidity in the lower boundary layer and amplifies the aerosol forcing. The fog events over the Indian regions identified using INSAT‐3D observations coincide with the regions where aerosol‐boundary layer interactions are very significant. The aerosol‐boundary layer interaction has significance in forecasting fog events and planning mitigation strategies for improving the air quality over the region.
Sparsity and incoherence in compressive sampling

We consider the problem of reconstructing a sparse signal from a limited number of linear measurements. Given m randomly selected samples of Ux0, where U is an orthonormal matrix, we show that ℓ1 minimization recovers x0 exactly when the number of measurements exceeds where S is the number of nonzero components in x0 and μ is the largest entry in U properly normalized: . The smaller μ is, the fewer samples needed. The result holds for ‘most’ sparse signals x0 supported on a fixed (but arbitrary) set T. Given T, if the sign of x0 for each nonzero entry on T and the observed values of Ux0 are drawn at random, the signal is recovered with overwhelming probability. Moreover, there is a sense in which this is nearly optimal since any method succeeding with the same probability would require just about as many samples.
Dr. Frankenstein's dream made possible: Implanted electronic devices

The developments in micro-nano-electronics, biology and neuro-sciences make it possible to imagine a new world where vital signs can be monitored continuously, artificial organs can be implanted in human bodies and interfaces between the human brain and the environment can extend the capabilities of men thus making the dream of Dr. Frankenstein become true. This paper surveys some of the most innovative implantable devices and offers some perspectives on the ethical issues that come with the introduction of this technology.
Evaluation of the consistency of refills for antiretroviral medications in two hospitals in the state of Rio de Janeiro, Brazil

Abstract We conducted a retrospective cohort study using pharmacy records to assess the frequency of delay in picking up antiretroviral (ARV) medication refills from the pharmacy and to identify determinants of delay among HIV-infected patients at two Brazilian hospitals. We selected patients who were on ARV therapy before January 2001 at Nova Iguaçu Hospital (NIPRH) (N = 265) and Evandro Chagas (N=424) Clinical Research Institute. We abstracted medical records and pharmacy data using standardised forms and analysed potential associations between delay in refilling medications and patients’ demographic characteristics, type of ARV drug regimen and evolution of HIV disease. Sixty-nine patients (26%) had delays in medication refills >1 month at least once in 2001 at NIPRH compared with 140 (33%) patients at IPEC (p=0.052). No factor was found to be associated with having a delay in medication refill >1 month at NIPRH. At IPEC, delays in medication refill >1 month were associated with a median CD4+ T cell count <200/mm3 versus >500/mm3 (adjusted odds ratio (AOR) = 3.8; 95% confidence interval (CI) =1.6–8.9) and with dual protease inhibitor-based ARV regimens versus other regimens (AOR = 4.3; 95% CI = 1.9–9.4). In conclusion, rates of delay in medication refills were similar to rates of adherence to ARV therapy found in other studies in Brazil, suggesting that delay in medication refills could be used as a surrogate for adherence. Analysing ARV medication refills can complement self-reported information on adherence.
Decreased K5 receptor expression in the retina, a potential pathogenic mechanism for diabetic retinopathy

Purpose Plasminogen kringle 5 (K5) is a potent angiogenic inhibitor and specifically binds to the voltage-dependent anion channel believed to function as the K5 receptor (K5R). To investigate the role of K5R in diabetic retinopathy, the present study measured the expression levels of K5R in the retina of diabetic retinopathy models. In cultured retinal Müller cells, K5 inhibited vascular endothelial growth factor (VEGF) expression as shown with enzyme-linked immunosorbent assay and western blot analysis, suggesting that K5 has a direct effect on Müller cells. Methods To identify K5R in retinal Müller cells, ligand binding and competition assays as well as real-time reverse transcriptional polymerase chain reaction were performed in Müller cells. 125I-K5 showed saturable binding to cultured Müller cells. The binding can be competed off by an excess amount of unlabeled K5 but not by angiostatin, demonstrating the specificity of the K5 binding to Müller cells. Consistent with the binding assay, reverse transcriptional polymerase chain reaction using voltage-dependent anion channel–specific primers detected the K5R mRNA in the Müller cells. Results Interestingly, K5R mRNA expression in Müller cells was downregulated by diabetic conditions including hypoxia and high glucose medium. Incubation with K5 ligand prevented hypoxia-induced downregulation of K5R. Furthermore, K5R expression was also downregulated in the retina of the oxygen-induced retinopathy model, a model of ischemia-induced retinal neovascularization. In a type 1 diabetic rat model, K5R expression in the retina was significantly suppressed in rats that had diabetes for 5 and 8 weeks. Conclusions These results suggest that K5R is expressed in retinal Müller cells, which may mediate the inhibitory effect of K5 on VEGF expression. In diabetes conditions, K5R expression levels are decreased in the retina, which could contribute to the VEGF overexpression in diabetic retinopathy. These findings suggest that the decreased levels of K5R may also play a pathogenic role in diabetic retinopathy.
ECOLOGICAL SPECIATION IN THE EAST MAUI‐ENDEMIC DUBAUTIA (ASTERACEAE) SPECIES

Abstract Adaptive diversification can be viewed as a balance between the conservative force of interpopulation gene flow and selection for differential environments. In this paper, we examine ecological, morphological, and genetic differentiation in a small clade consisting of four East Maui‐endemic species of Dubautia: D. menziesii, D. platyphylla, D. reticulata, and D. waianapanapaensis, in the Hawaiian silversword alliance (Asteraceae). The East Maui clade is apparently recently derived (less than 1 million years ago) and is geographically restricted yet displays significant ecological and morphological differences. We used geographic data from historical herbarium specimens, measurements of plant architecture and leaf morphometrics, and measures of genetic differentiation in both microsatellite and nuclear coding loci to examine the correlation of different forms of divergence in this small species flock. We found overlap in large‐scale geographic distributions, significant differentiation in most habitat factors, significant micro‐satellite differentiation, and many shared alleles at nuclear coding loci suggesting on‐going lineage sorting. Despite the presence of apparent hybrids in some populations, microsatellite variation is consistent with isolation among species. Using Mantel tests, we compared the direction and extent of diversification among different datasets, to determine whether ecological/morphological divergence was correlated with genetic divergence. Correlations among different datasets showed that habitat was strongly correlated with plant architecture but not leaf morphology. Taken together, these results indicate that ecological and morphological diversification has driven genetic divergence at rapidly evolving microsatellite loci, whereas there is continuing lineage sorting at neutral sites in nuclear coding loci.
Cognitive Fusion and Pain Experience in Young People

Objectives:Acceptance and Commitment Therapy (ACT) has been shown to be an effective treatment for chronic pain in young people. Cognitive fusion is a key concept of ACT that is hypothesized to contribute to distress and suffering. In this study, we sought to: (1) test hypothesized associations between cognitive fusion and pain intensity, disability, and catastrophizing; and (2) examine the function of cognitive fusion as a possible mediator between catastrophizing and disability. Methods:A community sample of 281 young people (11 to 20 y) completed measures assessing cognitive fusion, pain intensity, disability, and pain catastrophizing. Results:Cognitive fusion was positively related to pain intensity (r=0.24, P<0.01), disability (r=0.32, P<0.001), and pain catastrophizing (r=0.47, P<0.001). Moreover, cognitive fusion was found to mediate the association between pain catastrophizing and disability (&bgr;=0.01, 95% confidence interval=0.002-0.024, 5000 bootstrap resamples). Discussion:The findings indicate that cognitive fusion is moderately to strongly associated with pain-related outcomes, which support the need for further research to (1) better understand the relationship between cognitive fusion and adjustment to chronic pain, and (2) determine whether the benefits of treatments such as ACT are mediated, at least in part, by reductions in cognitive fusion.
Shape from Non-homogeneous, Non-stationary, Anisotropic, Perspective Texture

We present a method for Shape-from-Texture in one of its most general forms. Previous Shape-from-Texture papers assume that the texture is constrained by one or more of the following properties: homogeneity, isotropy, stationarity, or viewed orthographically. We make none of these assumptions. We do not presume that the frontal texture is known a priori, or from a known set, or even present in the image. Instead, surface smoothness is assumed, and the surface is recovered via a consistency constraint. The key idea is that the frontal texture is estimated, and a correct estimation leads to the most consistent surface. In addition to surface shape, a frontal view of the texture is also recovered. Results are given for synthetic and real examples.
Stable glioma incidence and increased patient survival over the past two decades in Norway: a nationwide registry-based cohort study.

BACKGROUND Surveillance of incidence and survival of central nervous system tumors is essential to monitor disease burden and epidemiological changes, and to allocate health care resources. Here, we describe glioma incidence and survival trends by histopathology group, age, and sex in the Norwegian population. MATERIAL AND METHODS We included patients with a histologically verified glioma reported to the Cancer Registry of Norway from 2002 to 2021 (N = 7,048). Population size and expected mortality were obtained from Statistics Norway. Cases were followed from diagnosis until death, emigration, or 31 December 2022, whichever came first. We calculated age-standardized incidence rates (ASIR) per 100,000 person-years and age-standardized relative survival (RS). Results: The ASIR for histologically verified gliomas was 7.4 (95% CI: 7.3-7.6) and was higher for males (8.8; 95% CI: 8.5-9.1) than females (6.1; 95% CI: 5.9-6.4). Overall incidence was stable over time. Glioblastoma was the most frequent tumor entity (ASIR = 4.2; 95% CI: 4.1-4.4). Overall, glioma patients had a 1-year RS of 63.6% (95% CI: 62.5-64.8%), and a 5-year RS of 32.8% (95% CI: 31.6-33.9%). Females had slightly better survival than males. For most entities, 1- and 5-year RS improved over time (5-year RS for all gliomas 29.0% (2006) and 33.1% (2021), p < 0.001). Across all tumor types, the RS declined with increasing age at diagnosis. INTERPRETATION The incidence of gliomas has been stable while patient survival has increased over the past 20 years in Norway. As gliomas represent a heterogeneous group of primary CNS tumors, regular reporting from cancer registries at the histopathology group level is important to monitor disease burden and allocate health care resources in a population.
Treatment of fever in the neurologic intensive care unit with a catheter-based heat exchange system

ContextElevated temperature worsens injury in experimental focal and global ischemia and brain trauma. Fever is common in patients with acute neurologic illness and independently predicts poor outcome. Conventional means of treating fever are not very effective in this population. ObjectiveTo study the effectiveness of a catheter-based heat exchange system in reducing elevated temperatures in critically ill neurologic and neurosurgical patients. Design, Intervention, Setting, and PopulationThis was a prospective randomized, nonblinded trial that compared conventional treatment of fever (acetaminophen and cooling blankets) with conventional treatment plus an intravascular catheter-based heat exchange system (Alsius, Irvine, CA). Patients admitted to one of 13 neurologic intensive care units in academic medical centers were eligible if they a) suffered subarachnoid hemorrhage, intracerebral hemorrhage, ischemic infarction, or traumatic brain injury; b) had a temperature >38°C on two occasions or for >4 continuous hrs; and c) required central venous access. Main Outcome MeasureThe fever burden (area under the curve >38°C) for 72 hrs was compared in an intention to treat analysis. Safety of the catheter system was monitored. ResultsA total of 296 patients were enrolled over 20 months. Forty-one percent had subarachnoid hemorrhage, 24% had traumatic brain injury, 23% had intracerebral hemorrhage, and 13% had ischemic stroke. The groups were matched in terms of age, body mass index, sex, and Glasgow Coma Scale score distribution. Fever burden was 7.92 vs. 2.87°C-hrs in the conventional group and catheter groups, respectively (64% reduction, p < .01). There was no higher rate of infection or the use of sedatives, narcotics, or antibiotics in the catheter group. The catheter did not significantly increase risk to the patient beyond that of a central catheter. ConclusionsThe addition of this catheter-based cooling system to conventional management significantly improves fever reduction in neurologic intensive care unit patients.
The shape of a long leaf

Long leaves in terrestrial plants and their submarine counterparts, algal blades, have a typical, saddle-like midsurface and rippled edges. To understand the origin of these morphologies, we dissect leaves and differentially stretch foam ribbons to show that these shapes arise from a simple cause, the elastic relaxation via bending that follows either differential growth (in leaves) or differential stretching past the yield point (in ribbons). We quantify these different modalities in terms of a mathematical model for the shape of an initially flat elastic sheet with lateral gradients in longitudinal growth. By using a combination of scaling concepts, stability analysis, and numerical simulations, we map out the shape space for these growing ribbons and find that as the relative growth strain is increased, a long flat lamina deforms to a saddle shape and/or develops undulations that may lead to strongly localized ripples as the growth strain is localized to the edge of the leaf. Our theory delineates the geometric and growth control parameters that determine the shape space of finite laminae and thus allows for a comparative study of elongated leaf morphology.
Fortunellin ameliorates LPS‐induced acute lung injury, inflammation, and collagen deposition by restraining the TLR4/NF‐κB/NLRP3 pathway

Abstract Objective Acute lung injury (ALI) is the prevalent respiratory disease of acute inflammation with high morbidity and mortality. Fortunellin has anti‐inflammation property, but its role in ALI remains elusive. Thus, this study clarified the function of fortunellin on ALI pathogenesis. Methods The ALI mouse model was established by lipopolysaccharide (LPS) induction, and lung tissue damage was evaluated utilizing hematoxylin–eosin (HE) staining. The edema of lung tissue was measured by the lung wet/dry (W/D) ratio. The lung capillary permeability was reflected by the protein content in bronchoalveolar lavage fluid (BALF). Inflammatory cell infiltration was measured by the evaluation of the content of myeloperoxidase (MPO), neutrophils, and leukocytes in BALF. Cell apoptosis was measured by terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay. The secretions of inflammatory cytokines were quantified using enzyme‐linked immunosorbent assay (ELISA) assays. Lung tissue collagen deposition was evaluated by Masson staining. Results Fortunellin attenuated LPS‐induced lung tissue damage and reduced the W/D ratio, the content of MPO in lung tissue, the total protein contents in BALF, and the neutrophils and leukocytes number. Besides, fortunellin alleviated LPS‐stimulated lung tissue apoptosis, inflammatory response, and collagen deposition. Furthermore, Fortunellin repressed the activity of the Toll‐like receptor 4 (TLR4)/nuclear factor kappa‐B (NF‐κB)/NLR Family Pyrin Domain Containing 3 (NLRP3) pathway in the LPS‐stimulated ALI model and LPS‐induced RAW264.7 cells. Moreover, fortunellin attenuated LPS‐stimulated tissue injury, apoptosis, inflammation, and collagen deposition of the lung via restraining the TLR4/NF‐κB/NLRP3 pathway. Conclusion Fortunellin attenuated LPS‐stimulated ALI through repressing the TLR4/NF‐κB/NLRP3 pathway. Fortunellin may be a valuable drug for ALI therapy.
Perforating vein fistula is superior to forearm fistula in elderly haemodialysis patients with diabetes and arterial hypertension.

BACKGROUND Access-related problems are one of the major causes of morbidity in elderly patients with chronic kidney disease. The aim of this study was to assess potential risks and benefits in elderly patients comparing forearm arteriovenous fistula (AVF) and perforating vein AVF below the elbow for primary vascular access. METHODS A retrospective comparison of elderly patients (65.7 ± 9.3 years, 70.4% male patients, 36.2% late referral) undergoing primary vascular access surgery using forearm AVF (n = 50) and perforating vein AVF (n = 55) was performed over a 2-year period, including a multivariate analysis of potential risk factors and benefits of primary patency (PP = intervention-free access survival) and secondary patency (SP = access survival until abandonment). RESULTS Patency rates after 24 months were significantly higher in patients with perforating vein AVF (PP + SP: 78.2%) compared to forearm AVF (PP: 62%, SP: 56%, P = 0.04). Presence of diabetes mellitus in patients with forearm AVF was associated with a decreased PP [odds ratio (OR): 3.6, 95% confidence interval (CI): 0.9-13.8] and SP (OR: 4.8, 95% CI: 1.3-17.9), and arterial hypertension was associated with a lower PP (OR: 6.7, 95% CI: 0.8-53.9), whereas the presence of hyperparathyroidism was associated with higher PP and SP (OR: 0.2, 95% CI: 0.1-0.7). In contrast, PP and SP in patients with perforating vein AVF were not influenced by comorbidities. CONCLUSIONS Perforating vein AVF is superior to forearm AVF in elderly patients with diabetes and arterial hypertension due to the proximal fistula location, probably caused by an improved artery distensibility during fistula maturation.