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Genome Research Jul 2024Island populations often experience different ecological and demographic conditions than their counterparts on the continent, resulting in divergent evolutionary forces...
Island populations often experience different ecological and demographic conditions than their counterparts on the continent, resulting in divergent evolutionary forces affecting their genomes. Random genetic drift and selection both may leave their imprints on island populations, although the relative impact depends strongly on the specific conditions. Here we address their contributions to the island syndrome in a rodent with an unusually clear history of isolation. Common voles () were introduced by humans on the Orkney archipelago north of Scotland >5000 years ago and rapidly evolved to exceptionally large size. Our analyses show that the genomes of Orkney voles were dominated by genetic drift, with extremely low diversity, variable Tajima's , and very high divergence from continental conspecifics. Increased / ratios over a wide range of genes in Orkney voles indicated genome-wide relaxation of purifying selection. We found evidence of hard sweeps on key genes of the lipid metabolism pathway only in continental voles. The marked increase of body size in Orkney-a typical phenomenon of the island syndrome-may thus be associated to the relaxation of positive selection on genes related to this pathway. On the other hand, a hard sweep on immune genes of Orkney voles likely reflects the divergent ecological conditions and possibly the history of human introduction. The long-term isolated Orkney voles show that adaptive changes may still impact the evolutionary trajectories of such populations despite the pervasive consequences of genetic drift at the genome level.
PubMed: 38955466
DOI: 10.1101/gr.278487.123 -
International Journal of Dermatology Jul 2024Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome with a predisposition to the development of central nervous system tumors, ophthalmic...
BACKGROUND
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome with a predisposition to the development of central nervous system tumors, ophthalmic manifestations, and dermatological lesions. The latter are present in 70-95% of patients and can precede the evolution of other tumors. However, they are not included in the diagnostic criteria and are frequently undervalued during follow-up.
METHODS
An observational cross-sectional study characterizing cutaneous lesions in a cohort of NF2 patients was carried out. Dermatological examinations were performed, and lesions were classified into neural cutaneous tumors (superficial, SNCT, and deep, DNCT), hyperpigmented patches (HyperP), and hypopigmented patches (HypoP). The Dermatology Life Quality Index (DLQI) and EQ-5D questionnaires were applied to evaluate the impact on quality of life.
RESULTS
Nineteen patients with a mean age of 36 years were included. Sixteen (84%) patients had cutaneous lesions, mostly developed 10 or more years before the diagnosis. SNCT, DNCT, and HyperP showed similar frequencies (58%). HypoP were observed in only one patient. HyperP developed, on average, earlier than NCT (9.6 vs. 16.5 SNCT, 17.0 DNCT; years). The excised lesions had different histological patterns, including neurofibromas, schwannomas, and a hybrid tumor. Most patients reported a low impact of cutaneous manifestations on the quality of life (DLQI 0 or 1).
CONCLUSIONS
Cutaneous lesions are frequent in NF2 and may precede the diagnosis by several years. Their identification is important to establish the diagnosis earlier and potentially reduce morbidity and mortality.
PubMed: 38955458
DOI: 10.1111/ijd.17354 -
International Journal of Hyperthermia :... 2024Cryoablation (Cryo) is a minimally invasive treatment for tumors. Cryo can activate the body's immune response, although it is typically weak. The immune response...
BACKGROUND
Cryoablation (Cryo) is a minimally invasive treatment for tumors. Cryo can activate the body's immune response, although it is typically weak. The immune response induced by Cryo in hepatocellular carcinoma (HCC) is poorly understood. PD-1 and CTLA-4 monoclonal antibodies are immune checkpoint inhibitors used in immunotherapy for tumors. The combined use of these antibodies with Cryo may enhance the immune effect.
METHODS
A Balb/c mouse model of HCC was established and treated with Cryo, immune checkpoint blockade (ICB), or Cryo + ICB (combination therapy). The growth trend of right untreated tumors and survival time of mice were determined. The expression of apoptosis-related proteins was detected by Western blot (WB) assay. The percentages of immune cells and immunosuppressive cells were analyzed by flow cytometry. The numbers of infiltrating T lymphocytes were checked by immunohistochemistry, and the levels of T-cell-associated cytokines were detected by Quantitative real-time Polymerase Chain Reaction (qRT-PCR) assays and Enzyme-Linked Immunosorbent Assays (ELISA) assays.
RESULTS
Cryo + ICB inhibited the growth of right untreated tumors, promoted tumor cell apoptosis, and prolonged the survival time of mice. Local T-cell infiltration in right tumor tissues increased after the combination therapy, while the number of immunosuppressive cells was significantly reduced. In addition, the combination therapy may induce the production of multiple Th1-type cytokines but reduce the production of Th2-type cytokines.
CONCLUSIONS
Cryo can activate CD8 and CD4 T-cell immune responses. Cryo + ICB can relieve the immunosuppressive tumor microenvironment and shift the Th1/Th2 balance toward Th1 dominance, further enhancing the Cryo-induced T-cell immune response and resulting in a stronger antitumor immune response.
Topics: Animals; Carcinoma, Hepatocellular; Mice; Liver Neoplasms; Cryosurgery; Mice, Inbred BALB C; Immune Checkpoint Inhibitors; Disease Models, Animal; Cell Line, Tumor
PubMed: 38955354
DOI: 10.1080/02656736.2024.2373319 -
The Science of the Total Environment Jun 2024The possible contamination routes, environmental adaptation, and genetic basis of Cronobacter spp. in infant and follow-up formula production factories and retailed...
Relevance of genetic causes and environmental adaptation of Cronobacter spp. isolated from infant and follow-up formula production factories and retailed products in China: A 7-year period of continuous surveillance based on genome-wide analysis.
The possible contamination routes, environmental adaptation, and genetic basis of Cronobacter spp. in infant and follow-up formula production factories and retailed products in mainland China have been determined by laboratory studies and whole-genome comparative analysis in a 7-year nationwide continuous surveillance spanning from 2012 to 2018. The 2-year continuous multicenter surveillance of the production process (conducted in 2013 and 2014) revealed that the source of Cronobacter spp. in the dry-blending process was the raw dry ingredients and manufacturing environment (particularly in the vibro sieve and vacuum cleaner), while in the combined process, the main contamination source was identified as the packing room. It is important to note that, according to the contamination control knowledge obtained from the production process surveillance, the contamination rate of retail powdered infant formula (PIF) and follow-up formula (FUF) products in China decreased significantly from 2016 onward, after improving the hygiene management practices in factories. The prevalence of Cronobacter spp. in retailed PIF and FUF in China in 2018 was dramatically reduced from 1.55 % (61/3925, in 2012) to an average as low as 0.17 % (13/7655 in 2018). Phenotype determination and genomic analysis were performed on a total of 90 Cronobacter spp. isolates obtained from the surveillance. Of the 90 isolates, only two showed resistance to either cefazolin or cefoxitin. The multilocus sequence typing results revealed that C. sakazakii sequence type 1 (ST1), ST37, and C. malonaticus ST7 were the dominant sequence types (STs) collected from the production factories, while C. sakazakii ST1, ST4, ST64, and ST8 were the main STs detected in the retailed PIF and FUF nationwide. One C. sakazakii ST4 isolate (1.1 %, 1/90) had strong biofilm-forming ability and 13 isolates (14.4 %, 13/90) had weak biofilm-forming ability. Genomic analysis revealed that Cronobacter spp. have a relatively stable core-genome and an increasing pan-genome size. Plasmid IncFIB (pCTU3) was prevalent in this genus and some contained 14 antibacterial biocide- and metal-resistance genes (BMRGs) including copper, silver, and arsenic resistant genes. Plasmid IncN_1 was predicted to contain 6 ARGs. This is the first time that a multi-drug resistance IncN_1 type plasmid has been reported in Cronobacter spp. Genomic variations with respect to BMRGs, virulence genes, antimicrobial resistance genes (ARGs), and genes involved in biofilm formation were observed among strains of this genus. There were apparent differences in copies of bcsG and flgJ between the biofilm-forming group and non-biofilm-forming group, indicating that these two genes play key roles in biofilm formation. The findings of this study have improved our understanding of the contamination characteristics and genetic basis of Cronobacter spp. in PIF and FUF and their production environment in China and provide important guidance to reduce contamination with this pathogen during the production of PIF and FUF.
PubMed: 38955273
DOI: 10.1016/j.scitotenv.2024.174368 -
The Science of the Total Environment Jun 2024Mountain protection forests can prevent natural hazards by reducing their onset and propagation probabilities. In fact, individual trees act as natural barriers against...
Mountain protection forests can prevent natural hazards by reducing their onset and propagation probabilities. In fact, individual trees act as natural barriers against hydrogeomorphic events. However, assessing the structural strength of trees against these hazards is challenging, especially in a context of climate change due to the intensification of extreme events and changes in forest dynamics. Here, we focus on the mechanical analyses of two of the most common tree species across the Pyrenees (Abies alba Mill. and Fagus sylvatica L.) growing in two different areas (Spain and France), and affected by recurrent snow avalanche and rockfall events. We first performed 53 pulling test on mature trees, where the root-plate stiffness and the modulus of elasticity of the stems were evaluated. To further analyse the impact of forest management and climate on protective forests, we yielded information on tree growth using dendroecology techniques. Then, we assessed structure and neighbourhood characteristics for each target tree to account for the surrounding forest structure. Finally, using linear and structured equation models we tested if the mechanical capacity of the trees is determined either by functional traits (e.g. species, tree growth, diameter and height) or forest structural traits (e.g. tree density, tree structure and slenderness) or both. Our results suggest that the forest neighbourhood influences tree mechanical capacity through two pathways, including both functional and structural traits. The individual stiffness parameter of trees is influenced by their functional traits, while their structural traits are more closely related with changes in the modulus of elasticity. Both species exhibit varying levels of dominance in different locations, which is related to their resilience to the diverse natural hazards they confront. Our findings provide relevant insights to anticipating management strategies for forests that serve as a protective barrier against natural hazards in the context of a changing climate.
PubMed: 38955268
DOI: 10.1016/j.scitotenv.2024.174359 -
Arquivos de Neuro-psiquiatria Jul 2024Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.
BACKGROUND
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.
OBJECTIVE
To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development.
METHODS
A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed.
RESULTS
History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes.
CONCLUSION
The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.
Topics: Humans; Tuberous Sclerosis; Male; Female; Child; Neuropsychological Tests; Adolescent; Adult; Young Adult; Brazil; Child, Preschool; Intellectual Disability; Cognition; Epilepsy; Autism Spectrum Disorder; Cohort Studies; Cognition Disorders
PubMed: 38955213
DOI: 10.1055/s-0044-1787797 -
The American Journal of Tropical... Jul 2024Ethiopia has a plan to eliminate malaria in selected low-transmission districts by 2025. However, complex factors such as seasonality, focal heterogeneity, and...
Ethiopia has a plan to eliminate malaria in selected low-transmission districts by 2025. However, complex factors such as seasonality, focal heterogeneity, and coendemicity of Plasmodium vivax and Plasmodium falciparum, and asymptomatic cases, along with other factors, pose challenges. This longitudinal study assessed these dynamics and associated factors in three elimination-targeted settings in southern Ethiopia. The study included rural districts (Wonago and Yirgacheffe) and an urban setting (Dilla town) with 504 participants from 168 households per season. The study covered the peak and minor malaria transmission seasons and the dry season. Finger-prick blood was collected for microscopy, rapid diagnostic tests, and 18S-rRNA-based quantitative polymerase chain reaction (qPCR). During the dry season, P. vivax accounted for most infections (64.5%, 71/110) and symptomatic malaria (50.9%, 29/57), whereas P. falciparum dominated during the peak transmission season (45.7%, 42/92 infections and 58.1%, 25/43 of symptomatic cases). Treatment-seeking behavior was low, with 65.3% (143/219) of symptomatic individuals not seeking treatment. Dilla town had significantly higher infection prevalence (29.6%, 149/504, P <0.001) in all seasons compared with the rural sites. The incidence rate was 12/1,000 person-seasons by qPCR and 5/1,000 person-seasons by microscopy. Urban residents, those with low hemoglobin levels, nonuse of mosquito nets, and proximity to stagnant water had a significantly higher risk of infection (P <0.001). Tailored approaches are needed in elimination-targeted areas, focusing on urban settings, Plasmodium species, and strengthening community-level interventions for behavioral change and active case detection.
PubMed: 38955195
DOI: 10.4269/ajtmh.24-0021 -
The American Journal of Tropical... Jul 2024Leptospirosis is a neglected zoonosis for which investigations assessing host-pathogen interaction are scarce. The aim of this study was to compare the severity and...
A Comparative Study of Human Leptospirosis between Mayotte and Reunion Islands Highlights Distinct Clinical and Microbial Features Arising from Distinct Inter-Island Bacterial Ecology.
Leptospirosis is a neglected zoonosis for which investigations assessing host-pathogen interaction are scarce. The aim of this study was to compare the severity and bacterial species involved in human cases of leptospirosis on Reunion and Mayotte islands, territories located in the southwest Indian Ocean that have recorded high human leptospirosis incidence but display fairly distinct epidemiological situations. A retrospective multicentric study including all patients over 18 years of age from Mayotte or Reunion with proven leptospirosis was conducted from January 2018 to April 2020. This study collected demographic, geographical, clinical, and biological data. Overall, 490 patients were included, 222 on Mayotte and 268 on Reunion. More patients were hospitalized on Reunion (n = 215, 80%) compared with Mayotte (n = 102, 46%). Severe disease was more common on Reunion (n = 75, 28%) than on Mayotte (n = 22, 10%). The dominant Leptospira species on Reunion was Leptospira interrogans (79%) followed by Leptospira borgpetersenii (21%), contrasting with the epidemiological situation on Mayotte where L. interrogans was found in only a minority of patients (10%). The high frequency of severe cases on Reunion could be explained not only by higher comorbidities but also by the higher occurrence of L. interrogans infections compared with Mayotte. Finally, the distribution of cases linked to L. borgpetersenii was found almost exclusively on the west coast of Reunion, raising the potential role of a ruminant reservoir.
PubMed: 38955193
DOI: 10.4269/ajtmh.23-0846 -
Journal of Environmental Management Jul 2024Effective elimination of heavy metals from complex wastewater is of great significance for industrial wastewater treatment. Herein, bimetallic adsorbent FeO-CeO was...
Effective elimination of heavy metals from complex wastewater is of great significance for industrial wastewater treatment. Herein, bimetallic adsorbent FeO-CeO was prepared, and HO was added to enhance Sb(V) adsorption by FeO-CeO in complex wastewater of Sb(V) and aniline aerofloat (AAF) for the first time. FeO-CeO showed good adsorption performance and could be rapidly separated by external magnetic field. After five adsorption/desorption cycles, FeO-CeO still maintained good stability. The maximum adsorption capacities of FeO-CeO in single Sb(V), AAF + Sb(V), and HO+AAF + Sb(V) systems were 77.33, 70.14, and 80.59 mg/g, respectively. Coexisting AAF inhibited Sb(V) adsorption. Conversely, additional HO promoted Sb(V) removal in AAF + Sb(V) binary system, and made the adsorption capacity of FeO-CeO increase by 14.90%. HO could not only accelerate the reaction rate, but also reduce the optimal amount of adsorbent from 2.0 g/L to 1.2 g/L. Meanwhile, coexisting anions had little effect on Sb(V) removal by FeO-CeO+HO process. The adsorption behaviors of Sb(V) in three systems were better depicted by pseudo-second-order kinetics, implying that the chemisorption was dominant. The complexation of AAF with Sb(V) hindered the adsorption of Sb(V) by FeO-CeO. The complex Sb(V) was oxidized and decomposed into free state by hydroxyl radicals produced in FeO-CeO+HO process. Then the free Sb(V) was adsorbed by FeO-CeO mostly through outer-sphere complexation. This work provides a new tactic for the treatment of heavy metal-organics complex wastewater.
PubMed: 38955048
DOI: 10.1016/j.jenvman.2024.121610 -
Journal of Environmental Management Jul 2024Savannas and grasslands have lost almost 50% of their original cover worldwide. Therefore, the development of methods and information on open-canopy ecosystem...
Savannas and grasslands have lost almost 50% of their original cover worldwide. Therefore, the development of methods and information on open-canopy ecosystem restoration is urgent for the inclusion of these ecosystems into global and regional priorities. In the Brazilian savanna, the most diverse savanna in the world, restoration efforts focused on open ecosystems have been virtually absent, but have increased in the last 10 years. Such efforts are frequently threatened by invasive exotic grasses (IEG) that invade and dominate areas excluding native species, oftentimes aided by altered soil conditions. Long-term studies of savanna restoration trajectories are rare. In this study, we surveyed 22 savanna restoration areas established two to ten years before the study with similar restoration methods to assess their current status. We show that the current restoration methods are successful in establishing native species and allowing species turnover but they are threatened by IEG. Restoration success varies and is affected by soil conditions, IEG landscape cover and post-sowing weeding. Despite that, the simultaneous introduction of different plant functional groups allows turnover from fast to slow-growing plants. Establishing savanna native species is possible at an operational scale with current knowledge and techniques. However, native species establishment fails to prevent IEG reinfestation, which needs to be managed in restoration efforts in the Brazilian savanna.
PubMed: 38955045
DOI: 10.1016/j.jenvman.2024.121576