Miracle-dz/UniFAR-FTUs huggingface dataset:
Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review

ABSTRACT In recent years, much attention has been paid to motor impairment of persons with Rett Syndrome (RTT), with increasing literature aimed to describe gross motor functioning and musculoskeletal disorders of the RTT population. The aim of this systematic review is to describe clinical evaluation tools used in the last decade to assess motor functioning and musculoskeletal abnormalities of patients with RTT. Thirty-four studies were reviewed and 20 tools were presented. Results showed that only two tools were used to measure functional change after rehabilitative or therapeutic interventions. This review underlies the lack of adequate evaluation tools to assess musculoskeletal abnormalities and deformities in RTT population. The absence of these assessments could be due to a statistical difficulty as it is challenging to build an evaluation tool that can score the entities of the abnormalities related to the amount of disability they cause.
Stress and number of servings of fruit and vegetables consumed: Buffering effects of monetary incentives

Diet is a key factor of human health, and additional research is needed in order to understand the psychological causes, consequences, and moderators of dietary behavior. Participants in two studies in the United States completed a 21-day intervention that involved either self-monitoring their fruit and vegetable consumption or self-monitoring combined with earning monetary incentives for behavior. Each day, participants reported their stress, affect, and consumption of fruits and vegetables. Hierarchical linear mixed effects model results suggest that on average, daily reports of higher stress were associated with fewer fruits and vegetables consumed on that day. This effect was moderated by incentive condition, such that the relationship between stress and fruit and vegetable consumption was reduced among incented participants. There was also a marginal negative effect of time on consumption of fruits and vegetables, but this was also significantly moderated by condition, such that those participants who did not receive incentives decreased their daily servings, while incented participants did not decrease over the course of the intervention. These studies suggest that incentives may be a novel method for buffering against the negative effect of daily stress on eating a healthy diet.
eSupport: Feasibility trial of telehealth support group participation to reduce loneliness in multiple sclerosis

Background: Loneliness is a risk factor for increased morbidity and mortality. Persons with multiple sclerosis (pwMS) are at increased risk for loneliness. Support groups facilitate meaningful social connections. Objective: To conduct a feasibility trial of eSupport: online support groups. Methods: Participants engaged in 1 hour/week eSupport or eJournal (active control). Primary outcome was feasibility (completion and adherence). We evaluated loneliness and depressive symptoms for preliminary efficacy. Results: Feasibility outcomes were met: completion rate was 96.4%; 88.9% were adherent. Loneliness and depression showed trend-level decreases in both conditions. Conclusion: Feasibility of telehealth support group participation for pwMS was supported. eSupport is accessible, affordable, acceptable, and scalable. Results warrant a randomized controlled trial to support efficacy.
Salusin-α mitigates diabetic nephropathy via inhibition of the Akt/mTORC1/p70S6K signaling pathway in diabetic rats

Abstract Salusin-α is a bioactive peptide that protects against atherosclerosis and hepatosteatosis. Serum salusin-α level is declined in patients suffering with renal insufficiency. However, it is still undefined whether salusin-α plays a role in diabetic nephropathy. The present study was designed to investigate the potential roles of salusin-α in diabetic renal disease. Herein, we demonstrated that the salusin-α levels in both plasma and kidney tissues from diabetic rats were obviously downregulated. Exogenous administration of salusin-α eliminated the typical characteristics of diabetic nephropathy. Salusin-α treatment decreased renal fibrosis, which was related with reduced epithelial-mesenchymal transition (EMT) of renal tubular epithelial cells. Injection of salusin-α suppressed the production of reactive oxygen species (ROS) via attenuation of NADPH oxidase subunits protein expressions and recovery of the antioxidant system. Mechanistically, the activated Akt/mTORC1/p70S6K signaling pathway in diabetic nephropathy was counteracted by salusin-α treatment. Our results demonstrated that salusin-α exerted protective effect against diabetic nephropathy via reduced oxidative stress and fibrosis, dependent on inactivation of the Akt/mTORC1/p70S6K signaling cascade. Salusin-α may be considered as a promising target for the treatment of diabetic nephropathy.
Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood

Background: Alpha-fetoprotein (AFP), cancer antigens 15.3, 19.9, and 125, carcinoembryonic antigen, and alkaline phosphatase (ALP) are widely measured in attempts to detect cancer and to monitor treatment response. However, due to lack of sensitivity and specificity, their utility is debated. The serum levels of these markers are affected by a number of nonmalignant factors, including genotype. Thus, it may be possible to improve both sensitivity and specificity by adjusting test results for genetic effects. Methods: We performed genome-wide association studies of serum levels of AFP (N = 22,686), carcinoembryonic antigen (N = 22,309), cancer antigens 15.3 (N = 7,107), 19.9 (N = 9,945), and 125 (N = 9,824), and ALP (N = 162,774). We also examined the correlations between levels of these biomarkers and the presence of cancer, using data from a nationwide cancer registry. Results: We report a total of 84 associations of 79 sequence variants with levels of the six biomarkers, explaining between 2.3% and 42.3% of the phenotypic variance. Among the 79 variants, 22 are cis (in- or near the gene encoding the biomarker), 18 have minor allele frequency less than 1%, 31 are coding variants, and 7 are associated with gene expression in whole blood. We also find multiple conditions associated with higher biomarker levels. Conclusions: Our results provide insights into the genetic contribution to diversity in concentration of tumor biomarkers in blood. Impact: Genetic correction of biomarker values could improve prediction algorithms and decision-making based on these biomarkers.
Eligibility and Radiologic Assessment in Adjuvant Clinical Trials in Bladder Cancer.

Objective To harmonize eligibility criteria and radiographic disease assessments in clinical trials of adjuvant therapy for muscle-invasive bladder cancer (MIBC). Methods National experts in bladder cancer clinical trial research, including medical and urologic oncologists, radiologists, biostatisticians, and patient advocates, convened at a public workshop on November 28, 2017, to discuss eligibility, radiographic entry criteria, and assessment of disease recurrence in adjuvant clinical trials in patients with MIBC. Results The key workshop conclusions for adjuvant MIBC clinical trials included the following points: (1) patients with urothelial carcinoma with divergent histologic differentiation should be allowed to enroll; (2) neoadjuvant chemotherapy is defined as at least 3 cycles of neoadjuvant cisplatin-based combination chemotherapy; (3) patients with muscle-invasive, upper-tract urothelial carcinoma should be included in adjuvant trials of MIBC; (4) patients with severe renal insufficiency can enroll into trials using agents that are not renally excreted; (5) patients with microscopic surgical margins can be included; (6) patients should undergo a standard bilateral lymph node dissection prior to enrollment; (7) computed tomographic (CT) imaging should be performed within 4 weeks prior to enrollment. For patients with renal insufficiency who cannot undergo CT imaging with contrast, noncontrast chest CT and magnetic resonance imaging of the abdomen and pelvis with gadolinium should be done; (8) biopsy of indeterminate lesions to evaluate for malignant disease should be done when feasible; (9) a uniform approach to evaluate indeterminate radiographic lesions when biopsy is not feasible should be included in any trial design; (10) a uniform approach to determining the date of recurrence is important in interpreting adjuvant trial results; and (11) new high-grade, upper-tract primary tumors and new MIBC tumors should be considered recurrence events. Conclusions and Relevance A uniform approach to eligibility criteria, definitions of no evidence of disease, and definitions of disease recurrence may lead to more consistent interpretations of adjuvant trial results in MIBC.
Landscape of Immune-Related Pneumonitis in Cancer Patients with Asthma Being Treated with Immune Checkpoint Blockade

Introduction: Predicting the factors that increase the risk of immune-related pneumonitis, a potentially life-threatening complication of treatment with immune checkpoint inhibitors for cancer, is a clinical challenge. Baseline clinical factors such as asthma may portend the development of pneumonitis due to pre-existing airway inflammation prior to immunotherapy. Objective: The purpose of the study was to investigate whether a prior diagnosis of asthma is associated with an increased risk of immune-related pneumonitis in patients undergoing cancer immunotherapy. Methods: Patients at the Moores Cancer Center at UC San Diego Health undergoing immunotherapy were identified on an IRB-approved protocol. Clinical charts were reviewed for asthma documented in the medical records and CT scans were reviewed during and after treatment. Pneumonitis was defined as the onset of new pulmonary symptoms with characteristic imaging findings during or after a patient’s first course of immunotherapy that could not be readily explained as infection or a progression of malignancy. It was graded according to the Common Terminology Criteria for Adverse Events. Results: A total of 187 patients were included. A diagnosis of asthma was found in the records of 26 cases (13.9%). Pneumonitis was found in 10 cases (5.35%); 50% were grade 2 and 50% were grade 3–4. Two of the grade 3–4 cases (40%) occurred in patients with non-small-cell lung cancer. Three patients with asthma developed pneumonitis (11.5% of patients with asthma), all grade 3–4. Only 28.6% of the non-asthma-pneumonitis cases were grade 3–4. All (100%) of the asthma-pneumonitis patients were former smokers, while 71.4% of the non-asthma-pneumonitis patients were former smokers. Conclusion: A history of asthma may be associated with a higher grade of pneumonitis if it develops, and a history of smoking may augment this relationship.
Fiber-Optic Chemical Sensors and Biosensors (2015-2019).

High-quality optical fibers can be produced now at a low cost and large quantity, and this has further promoted the development of fiber optic (chemical) sensors. After over 30 years of innovation, fiber optic sensing technology has become mature because of acceptable costs, compact instrumentation, high accuracy and the capability of performing measurements at inaccessible sites, over large distances, in strong (electro)magnetic fields and in harsh environment. The technology is still proceeding quickly in terms of innovation, and respective applications have been found in highly diversified fields. This review covers work published in the time period between October 2015 and October 2019. It is written in continuation of previous reviews.
The Everyday Compensation (EComp) Questionnaire: Construct Validity and Associations with Diagnosis and Longitudinal Change in Cognition and Everyday Function in Older Adults

Abstract Objective: The Everyday Compensation scale (EComp) is an informant-rated questionnaire designed to measure cognitively based compensatory strategies that support both everyday memory and executive function in the context of completing instrumental activities of daily living (IADLs). Although previous findings provided early support for the usefulness of the initial version of EComp, the current paper further describes the development, refinement, and validation of EComp as a new assessment tool of compensation for IADLs. Method: Confirmatory factor analysis (CFA) was used to examine its factor structure. Convergent and predictive validity was evaluated by examining the relationship between EComp and markers of disease, including diagnosis, cognitive change, and trajectories of functional abilities. Results: CFA supported a general compensation factor after accounting for variance attributable to IADL domain-specific engagement. The clinical groups differed in compensatory strategy use, with those with dementia using significantly fewer compensatory strategies as compared to individuals with normal cognition or mild cognitive impairment. Greater levels of compensation were related to better cognitive functions (memory and executive function) and functional abilities, as well as slower rates of cognitive and functional decline over time. Importantly, higher levels of compensation were associated with less functional difficulties and subsequently slower rate of functional decline independent of the level of cognitive impairment. Conclusions: Engagement in compensatory strategies among older adults has important implications for prolonging functional independence, even in those with declining cognitive functioning. Results suggest that the revised EComp is likely to be useful in measuring cognitively based compensation in older adults.
Too much? Mortality and health service utilisation among Danish children 1999-2016: A register-based study

Objectives To describe the temporal development of mortality and health service utilisation defined as in- and outpatient hospital contacts, contacts with general practitioner and specialists, and prescribed dispensed medication among Danish children 0–5 years of age from 1999 to 2016. Design Register-based descriptive study. Participants All children born in Denmark in the period 1994–2016 followed until 5 years of age. Main outcome measures Annual incidence rates of mortality and health service utilisation outcomes, and incidence rate ratios compared to the reference calendar year 1999. The new measure of post-discharge mortality is presented. Results Post-discharge mortality decreased from 1999 to 2016, IRR2016 = 0.49 (95% CI: 0.36 to 0.66). Total contacts did not change much over time, IRR2016 = 1.02 (1.02 to 1.03), but increased among neonates, IRR2016 = 3.69 (3.63 to 3.75), and decreased among children with chronic disease IRR2016 = 0.94 (0.93 to 0.94). In- and out-patient hospitalisations increased, IRR2016 = 1.26 (1.24–1.27) resp. IRR2016 = 1.62 (1.60–1.63), contacts with medical specialists increased, IRR2016 = 1.43 (1.42 to 1.43), whilst contacts with general practitioner decreased, IRR2016 = 0.91 (0.91 to 0.91). Medication use decreased, IRR2016 = 0.82 (0.82 to 0.82). Conclusions Our measure of post-discharge mortality was halved during the study period indicating improved health. Overall health service utilisation did not change much, but the type of utilisation changed, and the development over time differed between subgroups defined by age and chronic disease status. Our findings call for considerations about the benefit of increased specialisation and increased use of health services among ‘healthy’ children not suffering from chronic disease.
Two new species of Lactifluus (Fungi, Russulales) from tropical Quercus forest in eastern Mexico

Abstract Two new species of Lactifluus subgenus Lactifluus were discovered during a three-year monitoring of the ectomycorrhizal fungi in a tropical oak forest from central Veracruz, Mexico. Systematic sampling of basidiomes allowed recording of the morphological variation of fruit-bodies in different growth stages along with their fructification season. Both new species were distinguished, based on macro- and micromorphological features and on molecular data. A phylogenetic analysis of a concatenated nuc rDNA ITS, D1 and D2 domains of nuc 28S rDNA (LSU) and the 6–7 region of the second largest subunit of the RNA polymerase II (rpb2) sequence dataset of species of Lactifluus is provided. In the phylogeny inferred, one of the new species is sister to L. dissitus Van de Putte, K. Das & Verbeken and the other belongs to the group of species of L. piperatus (L.) Kuntze, sister to an unidentified species from U.S.A. The studied taxa grow under Quercus oleoides in the study site. The species are presented and illustrated here.
Associations of exposure to perfluoroalkyl substances with thyroid hormone concentrations and birth size.

BACKGROUND Adequate thyroid function during pregnancy is essential for optimal fetal growth. Gestational exposure to perfluoroalkyl substances (PFASs) can negatively affect birth size and disrupt maternal and neonatal thyroid function, although the interrelationship is unclear. OBJECTIVE We aimed to quantify the associations between maternal serum-PFAS concentrations and birth weight, birth length, and cranial circumference. We also aimed to estimate associations between PFAS and thyroid hormone (TH) concentrations, thereby elucidating whether THs potentially mediate the associations between PFAS concentrations and birth size. METHODS We studied a population-based prospective cohort of 172 mother-singleton pairs from the Faroe Islands. Twelve PFAS were measured in maternal serum obtained at 34 weeks of gestation. THs were measured in maternal and cord serum. Associations between PFAS concentrations and birth size and TH concentrations were estimated using multivariable linear regressions. Sex-stratified analyses along with a mediation analysis were performed to estimate potential mediating effects of THs in the association between PFAS and birth outcomes. RESULTS Several PFASs were negatively associated with birth weight, length, and head circumference, and a general positive association between maternal serum-PFASs and cord serum-thyroid stimulating hormone was found. For instance, a doubling in perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA) was associated with a 53% (95% CI: 18%, 99%) and 40% (95% CI: 8%, 81%) increases in thyroid stimulating hormone concentrations, respectively. There was little evidence of sexually dimorphic associations. Overall, THs were not found to mediate associations between PFASs and birth size. CONCLUSION In this study, several PFASs were negatively associated with birth size and increased THs, which however did not explain lower birth weight among children exposed to PFAS.
Actin guides filamentous rhizoid growth and morphogenesis in the zoosporic fungus Chytriomyces hyalinus

ABSTRACT The advantage of filamentous growth to the fungal lifestyle is so great that it arose multiple times. Most zoosporic fungi from phylum Chytridiomycota exhibit a monocentric thallus form consisting of anucleate filamentous rhizoids that anchor reproductive sporangia to substrata and absorb nutrients. Actin function during polarized growth and cytokinesis is well documented across eukaryotes, but its role in sculpting nonhyphal, nonyeast fungal cells is unknown. We sought to provide a basis for comparing actin organization among major fungal lineages and to investigate the effects of actin disruption on morphogenesis in a monocentric thallus. Using fluorescence microscopy, we observed fixed, rhodamine phalloidin–stained actin in chemically fixed Chytriomyces hyalinus, exemplifying monocentric thallus development within the diverse, zoosporic phylum Chytridiomycota. We also compared rhizoid lengths and rhizoid branching of thalli incubated with the actin inhibitor latrunculin B to determine the effects of actin disruption on morphology. Actin was concentrated at the tips of growing rhizoids. Actin cables typically formed cortical, parallel arrays in hyphae, but in mature sporangia they were concentrated in a funnel-shaped array in the central region. Thalli treated with latrunculin B had shorter rhizoids with fewer branches than controls. In both hyphae and monocentric thalli, actin localization coincides with active, polarized growth and cytokinesis. Specific actin localization patterns are largely shared between monocentric species but differ significantly from patterns observed in hyphae. Actin integrity is critical for sustaining filamentous growth in all fungi.
Caesarean section delivery and childhood obesity in a British longitudinal cohort study

Background Several studies reported an association between Caesarean section (CS) birth and childhood obesity. However, there are several limitations in the current literature. These include an inability to distinguish between planned and emergency CS, small study sample sizes and not adjusting for pre-pregnancy body-mass-index (BMI). We examined the association between CS delivery and childhood obesity using the United Kingdom Millennium Cohort Study (MCS). Methods Mother-infant pairs were recruited into the MCS. Use of sampling weights ensured the sample was representative of the population. The exposure was categorised as normal vaginal delivery (VD) [reference], assisted VD, planned CS and emergency CS. Childhood obesity prevalence, at age three, five, seven, eleven and fourteen years was calculated using the International Obesity Taskforce criteria. Mixed-effects linear regression models were fitted with associations adjusted for several potential confounders like maternal age, pre-pregnancy BMI, education and infant macrosomia. Linear regression models were fitted evaluating body fat percentage (BF%), at age seven and fourteen years. Results Of the 18,116 infants, 3872 (21.4%) were delivered by CS; 9.2% by planned CS. Obesity prevalence was 5.4%, 5.7%, 6.5%, 7.1% and 7.6% at age three, five, seven, eleven and fourteen years respectively. The mixed-effects linear regression model showed no association between planned (adjusted mean difference = 0.00; [95% confidence interval (CI) -0.10; 0.10], p-value = 0.97) or emergency CS (adjusted mean difference = 0.08; [95% CI -0.01; 0.17], p-value = 0.09) and child BMI. At age seven years, there was no association between planned CS and BF% (adjusted mean difference = 0.13; [95% CI -0.23; 0.49]); there was no association at age fourteen years. Conclusions Infants born by planned CS did not have a significantly higher BMI or BF% compared to those born by normal VD. This may suggest that the association, described in the literature, could be due to the indications/reasons for CS birth or residual confounding.
Breast Milk Supply of MicroRNA Associated with Leptin and Adiponectin Is Affected by Maternal Overweight/Obesity and Influences Infancy BMI

Breast milk constitutes a dietary source of leptin, adiponectin and microRNAs (miRNAs) for newborns. Expression of miRNAs previously associated with maternal obesity, leptin or adiponectin function were assessed and their impact on infant weight analyzed. Milk samples were collected (at month 1, 2, and 3) from a cohort of 59 healthy lactating mothers (38 normal-weight and 21 overweight/obese (BMI ≥ 25)), and infant growth was followed up to 2 years of age. Thirteen miRNAs, leptin and adiponectin were determined in milk. Leptin, adiponectin and miRNA showed a decrease over time of lactation in normal-weight mothers that was altered in overweight/obesity. Furthermore, negative correlations were observed in normal-weight mothers between the expression of miRNAs in milk and the concentration of leptin or adiponectin, but were absent in overweight/obesity. Moreover, miRNAs negatively correlated with infant BMI only in normal-weight mothers (miR-103, miR-17, miR-181a, miR-222, miR-let7c and miR-146b). Interestingly, target genes of milk miRNAs differently regulated in overweight/obesity could be related to neurodevelopmental processes. In conclusion, a set of miRNAs present in breast milk, in close conjunction with leptin and adiponectin, are natural bioactive compounds with the potential to modulate infant growth and brain development, an interplay that is disturbed in the case of maternal overweight/obesity.