Miracle-dz/UniFAR-FTUs huggingface dataset:
Characterization of a Drosophila model for Chorea‐Acanthocytosis

The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.
Epithermal Gold in the Philippines: Island Arc Metallogenesis, Geothermal Systems and Geology

Outline of Philippine Geology. Philippine Geothermal Systems. The Baguio Gold District. The Camarines Norte Gold District. The Eastern Mindanao Gold Province. Epithermal Systems in Eastern Negros and Masbate. Other Epithermal Districts in the Philippines. Major Characteristics and Genesis of the Epithermal Systems. Comparison with Some Epithermal Gold Systems Elsewhere. Geological Guides to Epithermal Gold. References. Index of Localities. Index.
Slum compassionate community: expanding access to palliative care in Brazil

ABSTRACT Objective: To describe the implementation of a compassionate community in Rocinha and Vidigal slums, located in the city of Rio de Janeiro. Method: Report on the experience of implementing a Compassionate Community based on the World Health Organization conceptual bases, supported by university extension guidelines. Results: Initially, local leaders and residents were recruited and trained in palliative care. Subsequently, health professionals from different specialties engaged in the project through volunteering. Home visits were instituted in the form of interconsultation and “sponsorships” by residents and health professionals to people in palliative care and family members. Finally, the health care network in the territory was integrated in order to recognize the project as a support network. Conclusion: We highlight the experience as living work in health, which involves relationships and creative processes, which mobilize structured technical knowledge and relationships between people and soft-hard and soft technologies, making it possible to recognize powers in the territory.
LGP2 directly interacts with flavivirus NS5 RNA-dependent RNA polymerase and downregulates its pre-elongation activities

LGP2 is a RIG-I-like receptor (RLR) known to bind and recognize the intermediate double-stranded RNA (dsRNA) during virus infection and to induce type-I interferon (IFN)-related antiviral innate immune responses. Here, we find that LGP2 inhibits Zika virus (ZIKV) and tick-borne encephalitis virus (TBEV) replication independent of IFN induction. Co-immunoprecipitation (Co-IP) and confocal immunofluorescence data suggest that LGP2 likely colocalizes with the replication complex (RC) of ZIKV by interacting with viral RNA-dependent RNA polymerase (RdRP) NS5. We further verify that the regulatory domain (RD) of LGP2 directly interacts with RdRP of NS5 by biolayer interferometry assay. Data from in vitro RdRP assays indicate that LGP2 may inhibit polymerase activities of NS5 at pre-elongation but not elongation stages, while an RNA-binding-defective LGP2 mutant can still inhibit RdRP activities and virus replication. Taken together, our work suggests that LGP2 can inhibit flavivirus replication through direct interaction with NS5 protein and downregulates its polymerase pre-elongation activities, demonstrating a distinct role of LGP2 beyond its function in innate immune responses.
Radiation-quality-dependent bystander cellular effects induced by heavy-ion microbeams through different pathways

Abstract We investigated the radiation-quality-dependent bystander cellular effects using heavy-ion microbeams with different ion species. The heavy-ion microbeams were produced in Takasaki Ion Accelerators for Advanced Radiation Application, National Institutes for Quantum Science and Technology. Carbon (12C5+, 220 MeV), neon (20Ne7+, 260 MeV) and argon (40Ar13+, 460 MeV) ions were used as the microbeams, collimating the beam size with a diameter of 20 μm. After 0.5 and 3 h of irradiation, the surviving fractions (SFs) are significantly lower in cells irradiated with carbon ions without a gap-junction inhibitor than those irradiated with the inhibitor. However, the same SFs with no cell killing were found with and without the inhibitor at 24 h. Conversely, no cell-killing effect was observed in argon-ion-irradiated cells at 0.5 and 3 h; however, significantly low SFs were found at 24 h with and without the inhibitor, and the effect was suppressed using vitamin C and not dimethyl sulfoxide. The mutation frequency (MF) in cells irradiated with carbon ions was 8- to 6-fold higher than that in the unirradiated control at 0.5 and 3 h; however, no mutation was observed in cells treated with the gap-junction inhibitor. At 24 h, the MFs induced by each ion source were 3- to 5-fold higher and the same with and without the inhibitor. These findings suggest that the bystander cellular effects depend on the biological endpoints, ion species and time after microbeam irradiations with different pathways.
Predictive value of ACE I/D genetic polymorphism for 12-month all-cause mortality in patients with acute myocardial infarction

The prognostic role of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) genetic polymorphism in patients with acute myocardial infarction (AMI) is controversial and inconsistent across various study populations. This study evaluated the predictive validity of the ACE I/D variant based on 12-month all-cause mortality in Vietnamese patients after AMI. This was an observational, prospective study conducted among AMI patients at Cho Ray Hospital between January 2020 and September 2021. All participants were identified for ACE I/D polymorphism using the polymerase chain reaction method, with follow-up on survival status at 12 months from the date of admission. The proportions of II, ID, and DD genotypes of the ACE I/D variant were 49.5%, 35.9%, and 14.6%, respectively. All-cause mortality after 12 months occurred in 58 cases (10.6%). The ACE I/D polymorphism did not affect all-cause mortality in the dominant (P = .196), recessive (P = .827), homozygous (P = .515), and heterozygous (P = .184) models. A subgroup analysis by usage status of angiotensin-converting enzyme inhibitor/angiotensin II receptor blocker (ACEI/ARB) showed that in the non-ACEI/ARB group, patients with the DD genotype had a lower cumulative survival probability than patients with the II/ID genotypes (hazard ratio [HR] = 3.97, 95% confidence interval [CI]: 1.21–13.04; P = .023). Among patients with Global Registry of Acute Coronary Events (GRACE) scores below the median (153.5 points), those with DD genotype had a higher risk of mortality than those with the II/ID genotypes (HR = 3.35, 95% CI: 1.01–11.11; P = .049). The ACE I/D genetic polymorphism was found not to be associated with 12-month all-cause mortality in Vietnamese patients with AMI. However, it was associated with mortality in patients who did not use ACEI/ARB and also whose GRACE scores were below 153.5 points.
A rare imaging presentation with multisystemic clinicopathological features of Langerhans cell histiocytosis: Case report and literature review

Rationale: Langerhans cell histiocytosis (LCH) is a kind of rare disease in which dendritic cells proliferate abnormally. It often occurs in children and can involve any tissue and organ. The affected sites usually include bone, skin, pituitary gland, and lungs, while the thyroid gland and external auditory canal are rarely observed. The perineal and labial involvement of this disease has not been reported yet. Patient concerns: A 47-year-old female patient experienced a swelling of the anterior neck area without an obvious inducement. She noticed a quail egg-like mass on the left side, and the mass increased progressively within 3 months. The anterior neck area was found to be swollen, and some flaky red rashes were seen on the scalp and bilateral external auditory canals. Diagnoses: Imaging examination showed enlarged thyroid and cervical lymph nodes, multiple low-density nodules in the liver, and reduced signal in the posterior pituitary gland. The biopsy pathological result of the increased left cervical lymph node indicated that LCH was detected. Interventions: VP regimen (vincristine, dexamethasone per os) and related supportive treatments were given as inducing chemotherapy for 6 weeks. Outcomes: After the second chemotherapy, the rash on the scalp and external auditory canal improved, and the neck mass was significantly reduced. After the third chemotherapy, the rash was mostly disappeared, while the neck lumps increased during chemotherapy. Thus, clatribine chemotherapy was recommended as the follow-up. Lessons: Imaging examinations played an important role in the diagnosis and follow-up of the disease, especially 18F-FDG PET/CT, which could show multiple involving organs at the same time. When a patient suffering from diabetes insipidus, skin rash, or fever, has a high FDG uptake PET/CT result in multiple tissues and organs throughout the body, it is necessary to consider the possibility of LCH.
Evaluating the impact of test-trace-isolate for COVID-19 management and alternative strategies

There are many contrasting results concerning the effectiveness of Test-Trace-Isolate (TTI) strategies in mitigating SARS-CoV-2 spread. To shed light on this debate, we developed a novel static-temporal multiplex network characterizing both the regular (static) and random (temporal) contact patterns of individuals and a SARS-CoV-2 transmission model calibrated with historical COVID-19 epidemiological data. We estimated that the TTI strategy alone could not control the disease spread: assuming R0 = 2.5, the infection attack rate would be reduced by 24.5%. Increased test capacity and improved contact trace efficiency only slightly improved the effectiveness of the TTI. We thus investigated the effectiveness of the TTI strategy when coupled with reactive social distancing policies. Limiting contacts on the temporal contact layer would be insufficient to control an epidemic and contacts on both layers would need to be limited simultaneously. For example, the infection attack rate would be reduced by 68.1% when the reactive distancing policy disconnects 30% and 50% of contacts on static and temporal layers, respectively. Our findings highlight that, to reduce the overall transmission, it is important to limit contacts regardless of their types in addition to identifying infected individuals through contact tracing, given the substantial proportion of asymptomatic and pre-symptomatic SARS-CoV-2 transmission.
Impact of aerobic fitness status, menstrual cycle phase, and oral contraceptive use on exercise substrate oxidation and metabolic flexibility in females.

The influence of menstrual cycle phase and fitness status on metabolism during high-intensity interval exercise (HIIE) was assessed. Twenty-five females (24.4(3.6) yr) were categorized by normal menstrual cycle (n = 14) vs. oral contraceptive use (n = 11) and by aerobic fitness, high fit females (HFF: n = 13) vs. low fit females (LFF: n = 12). HIIE was four sets of four repetitions with 3 min rest between intervals on a cycle ergometer at a power output halfway between the ventilatory threshold and V̇O2peak and performed during follicular (FOL: day 2-7 or inactive pills) and luteal phases (LUT: day ~21 or 3rd week of active pills). Substrate oxidation was assessed via indirect calorimetry, blood lactate via finger stick, and recovery skeletal muscle oxidative metabolism (mV̇O2) via continuous-wave near-infrared spectroscopy. HFF oxidized more fat (g•kg-1) during the full session (FOL: p = 0.050, LUT: p = 0.001), high intervals (FOL: p = 0.048, LUT: p = 0.001), low intervals (FOL: p = 0.032, LUT: p = 0.024) and LUT recovery (p = 0.033). Carbohydrate oxidation area under the curve was greater in HFF during FOL (FOL: p = 0.049, LUT: p = 0.124). Blood lactate was lower in LFF in FOL (p ≤ 0.05) but not LUT. Metabolic flexibility (Δ fat oxidation g•kg-1•min-1) was greater in HFF than LFF during intervals 2-3 in FOL and 1-4 in LUT (p ≤ 0.05). Fitness status more positively influences exercise metabolic flexibility during HIIE than cycle phase or OC use.
Genomic epidemiology unveils the dynamics and spatial corridor behind the Yellow Fever virus outbreak in Southern Brazil

Despite the considerable morbidity and mortality of yellow fever virus (YFV) infections in Brazil, our understanding of disease outbreaks is hampered by limited viral genomic data. Here, through a combination of phylogenetic and epidemiological models, we reconstructed the recent transmission history of YFV within different epidemic seasons in Brazil. A suitability index based on the highly domesticated Aedes aegypti was able to capture the seasonality of reported human infections. Spatial modeling revealed spatial hotspots with both past reporting and low vaccination coverage, which coincided with many of the largest urban centers in the Southeast. Phylodynamic analysis unraveled the circulation of three distinct lineages and provided proof of the directionality of a known spatial corridor that connects the endemic North with the extra-Amazonian basin. This study illustrates that genomics linked with eco-epidemiology can provide new insights into the landscape of YFV transmission, augmenting traditional approaches to infectious disease surveillance and control.
Mendelian randomization study shows a causal effect of asthma on chronic obstructive pulmonary disease risk

Background This study was performed to explore the causal association between asthma and chronic obstructive pulmonary disease(COPD). Methods We obtained summary statistics for asthma from 408,442 Europeans in an open genome-wide association study (GWAS) from the UK Biobank to select strongly associated single nucleotide polymorphisms that could serve as instrumental variables for asthma (P < 5×10−8). Additional summary statistics for COPD were obtained from 193,638 individuals of European ancestry in the GWAS published by FinnGen. Univariable Mendelian randomization(UVMR) analysis was performed using inverse variance weighted (IVW) as the primary method of analysis. The reliability of the results was verified by multivariable MR(MVMR), reverse and replication MR analysis, and sensitivity analysis. Results In the UVMR analysis, asthma increased the risk of COPD, with an odds ratio (OR) of 1.27 (95% confidence interval (CI) = 1.16–1.39, P = 5.44×10−7). Estimates were consistent in MVMR analyses by the adjustments of smoking initiation, age of smoking initiation, cigarettes per day, PM 2.5, and the combination of the above factors. In the reverse MR analysis, there was no evidence of a causal effect of COPD on asthma risk(OR = 1.02, 95% CI = 0.97–1.07, P = 0.3643). In the replication MR analysis, asthma still increased the risk of COPD. Sensitivity analyses validated the robustness of the above associations. Conclusions We found that genetically predicted asthma was positively associated with the risk of COPD. Additionally, there was no evidence that COPD increases the risk of asthma. Further clarification of this link and underlying mechanisms is needed to identify feasible measures to promote COPD prevention.
Clostridium butyricum MIYAIRI 588 alleviates periodontal bone loss in mice with diabetes mellitus

The gut microbiota is a bridge linking periodontitis and systemic diseases, such as diabetes mellitus (DM). The probiotic Clostridium butyricum MIYAIRI 588 (CBM588) is reportedly an effective therapeutic approach for gut dysbiosis. Here, in a mouse model, we explored the therapeutic effect of CBM588 on periodontal bone destruction in DM and DM‐associated periodontitis (DMP), as well as the underlying mechanism. Micro‐computed tomography revealed that DM and DMP both aggravated periodontal bone destruction, which was alleviated by intragastric supplementation with CBM588. Moreover, 16S rRNA sequencing and untargeted metabolite analysis indicated that CBM588 ameliorated DMP‐triggered dysbiosis and led to reduced oxidative stress associated with elevated 4‐hydroxybenzenemethanol (4‐HBA) in serum. Furthermore, in vitro and in vivo experiments found that the metabolite 4‐HBA promoted nuclear factor erythroid 2‐related factor 2 (Nrf2) signaling activation and modulated the polarization of macrophages, thus ameliorating inflammatory bone destruction in DMP. Our study demonstrates the protective effects of CBM588 in DM‐induced mice, with and without ligature‐induced periodontitis. The mechanism involves regulation of the gut microbiota and restoration of the integrity of the gut barrier to alleviate oxidative damage by elevating serum 4‐HBA. This study suggests the possibility of CBM588 as a therapeutic adjuvant for periodontal treatment in diabetes patients.
Paradoxes in the development of gullies

Gullies in the temperate zone are the products of linear erosion, piping and mass movements active mostly during heavy rains. On dominant role of one of those three co-operating processes decide the parameters of rainfalls and permability of substratum. The diversity of gullying depends also on the inherited relief and stage of development of gully forms. In the cultivated areas the formation of gullies is initiated also by cart-roads.
Effects of spring frosts in selected apple and pear orchards in the Lublin region in the years 2000, 2005 and 2007

Data concerning the effect of spring frosts on the survival of flower buds of several apple and pear cultivars, as well as on the damage caused by spring frosts to apple fruit are presented in the present paper. Observations were conducted in experimental and commercial orchards in the Lublin area in the years 2000, 2005 and 2007. The lowest temperature in spring in the consecutive years occurred on the following dates: 2000 - 3 rd and 4 th May, 2005 - 1 st April and 22 nd May, and 2007 - 2 nd and 4 th May. The most serious damages of buds were found in apple trees of Red Boskoop, Rubin and Jonagold cvs. grown in the experimental orchard in Felin (Lublin) (this was an average value for the years 2000 and 2007), whereas the buds of the late flowering cultivars of Golden Delicious Smoothee, Royal Gala and Ligol survived with significantly lesser damages. These observations generally confirmed those made in commercial orchards in 2005 and 2007, in which buds of cv. Elise also showed high resistance to spring frosts. Pear trees of cv. Concorde showed low damage to flower buds in 2007 and produced a reasonably good crop. Fruits of cv. Jonagold and its mutations Wilmuta, Jonica, Decosta and Rubinstar proved to be very sensitive to spring frosts, as well as fruits of cv. Lired. The positive influence of the Polish rootstock P60 on flower bud survival was observed in the year 2000. However, this was not confirmed in 2007, thus further observations are necessary to check these effects.
The effect of light during embryonic development on laterality and exploration in Western Rainbowfish

ABSTRACT Several factors affect the development of lateralization such as hormones and light exposure during early development. Laterality also often correlates with other behavioral traits. To examine whether there is a common mechanism underlying the development of laterality and other behaviors, we manipulated laterality by exposing embryos of the Western rainbowfish (Melatotaenia australis) to light or continuous darkness during early development and determined whether a shift in laterality was associated with a change in behavior in a novel environment test at two different ages. We found that exposing eggs to darkness led to offspring that displayed significantly less lateralized behavior in the mirror test two weeks after hatching than offspring from eggs exposed to light. Interestingly, the effects of rearing condition were lost by 3 months of age. These data suggest that exposure to light can influence laterality very early in development, but such bias can be overwritten by developmental processes post-hatch. Moreover, our manipulation of laterality apparently had no influence on exploration suggesting independent causal mechanisms. The experimental manipulation of light exposure during development could be a useful tool for enhancing individuals with a specific laterality and behavioral traits to aid future research into the causes and consequences of laterality.
Gill arch and raker morphology of common carp (Cyprinus carpio, Linnaeus, 1758) sampled in aquaculture system

The study aimed to investigate the morphologic aspects of common carp's gill arch and gill rakers (Cyprinus carpio, Linnaeus, 1758), an omnivore and highest‐produced aquaculture species. The study used 10 common carp (395.35 ± 45.06 g) grown entirely under aquaculture conditions. The fish tissues were fixed with Glutaraldehyde (2.5%) for scanning electron microscopy and with formalin (10%) for stereomicroscopic examination. In the SEM examination, two types of taste papillae (Type II and Type III) were observed in the pharyngeal mucosa. Microridge‐like structures in the epithelial layer were found to have two forms. The study findings indicate a significant decrease in gill arch lengths from cranial to caudal and a significant increase in rakers per unit area, as determined through digital calliper measurements and stereomicroscopic examinations (p < 0.05). However, there was no significant difference in measurements of gill arches and raker numbers between the bilateral symmetry of the gill arches (p > 0.05). In conclusion, it was observed that the epithelial structure on the common carp gill arch contained two types of microridge‐like structures: the gill arch length decreased from cranial to caudal, and the rake density on these arches increased caudally.
Evidence that donors with variant RH genotypes are associated with unexpected Rh antibodies

We previously reported unexpected Rh antibodies in the plasma of patients with sickle cell disease (SCD) that demonstrated common Rh specificities in the absence of transfusion of RBCs positive for that antigen. We hypothesize that these antibodies might result from transfusion of antigen‐negative donor units with variant RH genotypes.