bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetic insights of blood lipid metabolites on polycystic ovary syndrome risk: a bidirectional two-sample Mendelian randomization study
Authors: Wang Xinzhe , Han Huawei , Shi Xiuwen , Nie Xiaping , Zhu Rui , Jin Jing , Zhou Huifang
Published: July 2024

Background

Pathologically, metabolic disorder plays a crucial role in polycystic ovarian syndrome (PCOS). However, there is no conclusive evidence lipid metabolite levels to PCOS risk.

Methods

In this study, genome-wide association study (GWAS) genetic data for 122 lipid metabolites were used to assign instrumental variables (IVs). PCOS GWAS were derived from a large-scale meta-analysis of 10,074 PCOS cases and 103,164 controls. An inverse variance weighted (IVW) analysis was the primary methodology used for Mendelian randomization (MR). For sensitivity analyses, Cochran Q test, MR-Egger intercept, MR-PRESSO, leave-one-out analysis,and Steiger test were performed. Furthermore, we conducted replication analysis, meta-analysis, and metabolic pathway analysis. Lastly, reverse MR analysis was used to determine whether the onset of PCOS affected lipid metabolites.

Results

This study detected the blood lipid metabolites and potential metabolic pathways that have a genetic association with PCOS onset. After IVW, sensitivity analyses, replication and meta-analysis, two pathogenic lipid metabolites of PCOS were finally identified: Hexadecanedioate (OR=1.85,95%CI=1.27–2.70, P=0.001) and Dihomo-linolenate (OR=2.45,95%CI=1.30–4.59, P=0.005). Besides, It was found that PCOS may be mediated by unsaturated fatty acid biosynthesis and primary bile acid biosynthesis metabolic pathways. Reverse MR analysis showed the causal association between PCOS and 2-tetradecenoyl carnitine at the genetic level (OR=1.025, 95% CI=1.003–1.048, P=0.026).

Conclusion

Genetic evidence suggests a causal relationship between hexadecanedioate and dihomo-linolenate and the risk of PCOS. These compounds could potentially serve as metabolic biomarkers for screening PCOS and selecting drug targets. The identification of these metabolic pathways is valuable in guiding the exploration of the pathological mechanisms of PCOS, although further studies are necessary for confirmation.
Impact of energy storage industry development on the low-carbon economy: evidence from China
Authors: Chen Jian , Li Hanzun
Published: July 2024

Introduction: Facing the problem that it is difficult to reconcile development and carbon reduction in the energy sector, this study explores the impact mechanism of the development of energy storage industry on low-carbon economy from the perspective of the energy trilemma.

Methods: Using a moderated two-mediation model and data from 275 cities in China, this study explores the differences in the impact mechanisms of the development of the energy storage industry on the low-carbon economy in different regions of China.

Results: This study draws the following conclusions: first, the development of the energy storage industry can promote the green economy by facilitating technical support and the development of new energy industries. Second, financial support can regulate the effect of this mediating role. Third, in China, the contribution of energy storage industry development to green development is significantly higher in the northern region than in the southern region due to the differences in impact mechanisms.

Discussion: The results of this study provide an effective path for developing countries to balance energy sector development, security, and low-carbon.
Optimal approaches for COVID-19 control: the use of vaccines and lockdowns across societal groups
Authors: Bonsall Michael B. , Huntingford Chris , Rawson Thomas
Published: July 2024

Background

By March 2023, the COVID-19 illness had caused over 6.8 million deaths globally. Countries restricted disease spread through non-pharmaceutical interventions (NPIs; e.g. social distancing). More severe “lockdowns” were also required to manage disease spread. Although lockdowns effectively reduce virus transmission, they substantially disrupt economies and individual well-being. Fortunately, the availability of vaccines provides alternative approaches to manage disease spread. Yet, vaccination programs take several months to implement fully, require further time for individuals to develop immunity following inoculation, may not have complete coverage and/or may be imperfectly efficacious against the virus. Given these aspects of a vaccination programme, it is important to understand how NPIs (such as lockdowns) can be used in conjunction with vaccination to achieve public health goals.

Methods

We use mathematical methods to, investigate optimal approaches for vaccination under varying lockdown lengths and/or severities to prevent COVID-19-related deaths exceeding critical thresholds.

Results

We find that increases in vaccination rate cause a disproportionate decrease in the length and severity lockdowns to keep mortality levels below a critical threshold. With vaccination, severe lockdowns can further reduce infections by up to 89%. Notably, we include simple demographics, modelling three groups: vulnerable, front-line workers, and non-vulnerable. We investigate the sequence of vaccination. One counter-intuitive finding is that even though the vulnerable group is high risk, demographically, this is a small group and critically, per person, vaccination therefore occurs more slowly. Hence vaccinating this group first achieves limited gains in overall disease control.

Discussion

Importantly, we conclude that improved disease control may be best achieved by vaccinating the non-vulnerable group coupled with longer and/or more severe NPIs.
Alphacoronaviruses from bats captured in European Russia in 2015 and 2021 are closely related to those of Northern Europe
Authors: Korneenko Elena V. , Samoilov Andrei E. , Chudinov Ivan K. , Butenko Ivan O. , Sonets Ignat V. , Artyushin Ilya V. , Yusefovich Alexander P. , Kruskop Sergei V. , Sinitsyn Sergei O. , Klyuchnikova Ekaterina O. , Gladkikh Anna S. , Dedkov Vladimir G. , Safonova Marina V. , Daszak Peter , Speranskaya Anna S.
Published: July 2024

Introduction

Bats are considered the natural reservoirs of several viruses including coronaviruses (CoVs), two genera of which, alpha- and betacoronaviruses, infect humans. Despite widespread screening of bat samples for novel viruses, information on the diversity of coronaviruses in bats inhabiting Russian territory remains scarce. Here, we analyzed the presence and diversity of alphacoronaviruses (Alpha-CoVs) in bats from European Russia.

Methods

Fourty three fecal samples from bats of 8 species: P. nathusii, P. kuhlii, M. brandtii, M. daubentonii, N. noctula, V. murinus, M. dasycneme, and P. auritus were taken to study.

Results and discussion

We detected Alpha-CoV RdRp gene fragments in 30% (13/43) of samples examined in 75% (6/8) of species sampled. Phylogenetic analysis of RdRp showed that most of the identified Alpha-CoV sequences fall into clades within the Pedacovirus subgenus, with minor clusters of nyctacoviruses or myotacoviruses. We assert that closely related pedacoviruses have been circulating for a long time (from 2015 to 2021) in a large region from European Russia to Northern Europe. We propose that closely related pedacoviruses collected from common areas represent a separate species, which we name NE-Alpha coronavirus, with its host being bats of the genus Pipistrellus that inhabit a region from the European part of Russia to Northern Europe. Among the animals sampled, 4.6% (2/43) carried two Alpha-CoVs related to different subgenera (pedacovirus/myotacovirus or pedacovirus/nyctacovirus) simultaneously. We confirmed the presence of two different Alpha-CoV subgenera related to pedacovirus and nyctacovirus in P. kuhlii captured in 2021 and kept in captivity using whole genome sequencing of these viruses. The presence of two or more coronaviruses in one individual animal host is an essential prerequisite for recombination to occur. We also obtained two Alpha-CoV whole genomes from two specimens of P. nathusii captured in 2015. The genomic organization of BatCoV/MOW15-21 and BatCoV/MOW15-23 was similar to other Alpha-CoVs, but the assembled genomes contained a long insertion in the ORF1ab gene which has not been described in other Alpha-CoVs, except for a single sequence from P. nathusii captured in the Netherlands. We propose that the insertion encodes a previously undescribed domain of unknown function, probably related to the SEA domain superfamily.
Genetic engineering and genome editing technologies as catalyst for Africa’s food security: the case of plant biotechnology in Nigeria
Authors: Adegbaju Muyiwa Seyi , Ajose Titilayo , Adegbaju Ifeoluwa Elizabeth , Omosebi Temitayo , Ajenifujah-Solebo Shakirat Oloruntoyin , Falana Olaitan Yetunde , Shittu Olufunke Bolatito , Adetunji Charles Oluwaseun , Akinbo Olalekan
Published: July 2024

Many African countries are unable to meet the food demands of their growing population and the situation is worsened by climate change and disease outbreaks. This issue of food insecurity may lead to a crisis of epic proportion if effective measures are not in place to make more food available. Thus, deploying biotechnology towards the improvement of existing crop varieties for tolerance or resistance to both biotic and abiotic stresses is crucial to increasing crop production. In order to optimize crop production, several African countries have implemented strategies to make the most of this innovative technology. For example, Nigerian government has implemented the National Biotechnology Policy to facilitate capacity building, research, bioresource development and commercialization of biotechnology products for over two decades. Several government ministries, research centers, universities, and agencies have worked together to implement the policy, resulting in the release of some genetically modified crops to farmers for cultivation and Commercialization, which is a significant accomplishment. However, the transgenic crops were only brought to Nigeria for confined field trials; the manufacturing of the transgenic crops took place outside the country. This may have contributed to the suspicion of pressure groups and embolden proponents of biotechnology as an alien technology. Likewise, this may also be the underlying issue preventing the adoption of biotechnology products in other African countries. It is therefore necessary that African universities develop capacity in various aspects of biotechnology, to continuously train indigenous scientists who can generate innovative ideas tailored towards solving problems that are peculiar to respective country. Therefore, this study intends to establish the role of genetic engineering and genome editing towards the achievement of food security in Africa while using Nigeria as a case study. In our opinion, biotechnology approaches will not only complement conventional breeding methods in the pursuit of crop improvements, but it remains a viable and sustainable means of tackling specific issues hindering optimal crop production. Furthermore, we suggest that financial institutions should offer low-interest loans to new businesses. In order to promote the growth of biotechnology products, especially through the creation of jobs and revenues through molecular farming.
Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia
Authors: Bragina Elizaveta , Kurchashova Svetlana , Suhomlinova Marina , Gasanova Tatiana , Ermolaeva Svetlana , Sorokina Tatyana , Kirs Eva , Arifulin Evgeniy , Solovova Olga , Ryzhkova Oxana , Khayat Sabina , Andreeva Marina , Chernykh Vyacheslav
Published: July 2024

Globozoospermia is a form of male infertility characterized by spermatozoa with spherical heads lacking acrosomes. The aim of this study was to evaluate ultrastructural and molecular defects in different types of globozoospermia. Semen samples from 12 infertile patients (9 with complete globozoospermia and 3 with partial globozoospermia) and 10 normozoospermic men (control) were examined by transmission electron microscopy and immunocytochemistry with antibodies against lamin B1. The presence of lamin A and progerin was assessed by reverse transcription-PCR. Whole exome sequencing was performed in three patients. In semen samples with complete and partial globozoospermia, lamin B1 was observed at the periphery of sperm nuclei, whereas lamin A and progerin were absent. Nuclear envelope pores were found in spermatozoa from both patient groups, regardless of morphology and chromatin condensation, in contrast to the control group. Non-condensed chromatin was present in 51%–81% of cases of complete globozoospermia and in 36%–79% of cases of partial globozoospermia. Homozygous DPY19L2 and SPATA16 variants were identified in two patients with partial globozoospermia and one patient with complete globozoospermia. An atypical nuclear membrane with abnormal nuclear pore distribution and lamin B1 localization was observed in spermatozoa from patients with both complete and partial globozoospermia. The genetic defects in the DPY19L2 and SPATA16 genes detected in patients from both globozoospermic groups suggest a generalized disruption of nuclear structure in globozoospermia, highlighting the genetic and phenotypic similarities between complete and partial globozoospermia.
The global psychological and physical effects of domestic abuse and violence on South Asian women: a qualitative systematic review
Authors: Masih Marina , Wagstaff Christopher , Kaur-Aujla Harjinder
Published: July 2024

Introduction

The purpose of this review is to systematically extract and analyse global academic literature to determine the physical and psychological effects of domestic abuse and violence on South Asian women.

Design

This review employs a qualitative systematic approach and thematic analysis to synthesize the narratives of affected women found in the literature. Given that domestic violence is often concealed and downplayed by various social factors, statistical reports and prevalence data offer only a limited view of the issue due to underreporting. Therefore, qualitative literature is deemed more dependable in this subjective domain as it captures and interprets the experiences and meanings within this under-studied group.

Data sources

Embase, PsycINFO, Google Scholar, Web Of Science, MEDLINE, and ASSIA were searched.

Review methods

All included studies were critically appraised using the CASP tool for qualitative research. Thematic analysis was conducted to develop six themes. Studies excluded did not address the research question, although intersecting population issues could be valuable topics for further research.

Results

The literature indicates severe mental and physical health consequences of domestic violence and abuse, with some traits persisting long-term. The analysis underscores the significant role of resilience, suggesting that individuals can overcome traumatic social experiences without enduring lifelong labels or a deficit model.

Conclusion

The findings provide support for future interventions aimed at recognizing signs of abuse and preventing severe psychological and physical consequences, particularly among South Asian women. Further research is needed to understand the impact on children and other family members affected by the victim's abuse, which falls beyond the scope of this review.
Causal effects of autoimmune diseases on temporomandibular disorders and the mediating pathways: a Mendelian randomization study
Authors: Chen Xin , Cheng Zheng , Xu Junyu , Wang Qianyi , Zhao Zhibai , Jiang Qianglin
Published: July 2024

Background

The role of autoimmune diseases (ADs) in temporomandibular disorders (TMDs) has been emphasized in observational studies. However, whether the causation exists is unclear, and controversy remains about which specific disorder is destructive in TMDs. This Mendelian randomization (MR) study aims to estimate the causal effect of common ADs on TMDs.

Methods

Genetic data from published genome-wide association studies for fourteen common ADs, specifically multiple sclerosis (MS, N = 15,283), ankylosing spondylitis (AS, N = 22,647), asthma (N = 408,422), celiac disease (N = 15,283), Graves’ disease (N = 458,620), Hashimoto thyroiditis (N = 395,640), primary biliary cirrhosis (PBC, N = 11,375), primary sclerosing cholangitis (PSC, N = 14,890), psoriasis vulgaris (N = 483,174), rheumatoid arthritis (RA, N = 417,256), systemic lupus erythematosus (SLE, N = 23,210), Type 1 diabetes (T1D, N = 520,580), inflammatory bowel disease (IBD, N = 34,652), and Sjogren’s syndrome (SS, N = 407,746) were collected. Additionally, the latest summary-level data for TMDs (N = 228,812) were extracted from the FinnGen database. The overall effects of each immune traits were assessed via inverse-variance weighted (IVW), weighted median, and MR-Egger methods, and performed extensive sensitivity analyses. Finally, 731 immune cell phenotypes (N = 3,757) were analyzed for their mediating role in the significant causality.

Results

Univariable MR analyses revealed that genetically predicted RA (IVW OR: 1.12, 95% CI: 1.05-1.19, p < 0.001) and MS (IVW OR: 1.06, 95% CI: 1.03-1.10, p = 0.001) were associated with increased risk of TMDs. Two out of 731 immune cell phenotypes were identified as causal mediators in the associations of RA with TMDs, including “CD25++ CD8+ T cell % CD8+ T cell” (mediation proportion: 6.2%) and “CD3 on activated CD4 regulatory T cell” (5.4%). Additionally, “CD127 on granulocyte” mediated 10.6% of the total effect of MS on TMDs. No reverse directions, heterogeneity, and pleiotropy were detected in the analyses (p > 0.05).

Conclusion

This MR study provides new evidence regarding the causal impact of genetic predisposition to RA or MS on the increased risk of TMDs, potentially mediated by the modulation of immune cells. These findings highlight the importance for clinicians to pay more attention to patients with RA or MS when consulting for temporomandibular discomfort. The mediating role of specific immune cells is proposed but needs further investigation.
Causal role of immune cells in uveitis: Mendelian randomization study
Authors: Wu Jiahui , Fang Caocao , Zhou Yongwei , Wang Menghua , Li Qiuming , Dong Shuqian
Published: July 2024

Background

Uveitis, characterized by inflammation of the iris, ciliary body, and choroid, presents a significant global clinical challenge, contributing substantially to visual impairment. Risk factors include autoimmune diseases and immune cell dysfunctions, yet many remain unidentified. Immune cells, notably T cells, B cells, and monocytes, play pivotal roles in uveitis pathogenesis. While biologic agents show promise, comprehensive studies on immune cell types in ocular diseases are lacking. Genome-wide association studies (GWAS) and Mendelian randomization (MR) present promising avenues to elucidate genetic susceptibilities and causal relationships between immune cell traits and uveitis risk.

Methods

Two-sample MR analysis was used to evaluate the causal relationship between 731 immune cells and uveitis, and genome-wide significance analysis was performed for genetic variation in 731 immune cells traits (P < 5 × 10-8). Immune characteristics include median fluorescence intensity (MFI), relative cell counts (RC), absolute cell counts (AC), and morphological parameters (MP), which were determined by published GWAS, and public data from the IEU Open GWAS database. The main analysis method of MR is inverse variance weighting (IVW). Heterogeneity and horizontal pleiotropy were also assessed.

Results

5 immunophenotypes, including CD62L-DC %DC, IgD+ CD38dim %B cell, CD3 on CM CD4+T cell, CD3 on CD45RA-CD4 +T cell, and CD3 on CD39+ CD4+ Treg may increase the risk of uveitis. 5 immunophenotypes, including CD11b on CD33dim HLA DR-Myeloid cell, HLA DR on CD33dim HLA DR+ CD11b-myeloid cell, CD14-CD16 + %monocyte, HLA DR on CD14-CD16 + monocyte and PDL-1 on CD14-CD16 + monocyte was negatively associated with the risk of uveitis. Among them, HLA DR on CD14-CD16 + monocyte (OR=0.921, 95%CI =0.875-0.970, P=0.001) and HLA DR on CD33dim HLA DR+ CD11b- (OR=0.879, 95%CI = 0.833-0.927, P=0.00) were negatively associated with the risk of uveitis in bi-direction.

Conclusion

These results indicate that 10 immune cells traits are significantly associated with the risk of developing uveitis and 2 of them were strongly associated with uveitis bi-directionally, after excluding the effects of confounding factors such as some immune diseases, which provided new ideas and therapeutic targets for the study of immune mechanism of uveitis.
Advances in second hematopoietic stem cell transplantation
Authors: Yan Sijia , Zhu Xiaojian , Xiao Yi
Published: July 2024

Hematopoietic stem cell transplantation (HSCT) is a widely used treatment for malignant hematological diseases; however, some patients inevitably experience relapse. Therefore, for patients who relapse after the first HSCT (HSCT1), a standard treatment regimen must be developed. A second hematopoietic stem cell transplantation (HSCT2) is a possible treatment option. Several studies have analyzed the feasibility of HSCT2. Previous studies have shown that various factors may affect the efficacy of HSCT2, including the hematopoietic cell transplantation comorbidity index, duration of remission after HSCT1, occurrence of chronic graft-versus-host disease, and disease status before HSCT2. However, the selection of donors for HSCT2 does not affect the transplantation efficacy. HSCT2 also presents a risk of relapse, and the prognosis of patients after relapse is poor. Further research on the treatment of patients after relapse is warranted.
Unraveling the gut microbiome’s contribution to pancreatic ductal adenocarcinoma: mechanistic insights and therapeutic perspectives
Authors: Tabrizi Eileen , Pourteymour Fard Tabrizi Fatemeh , Mahmoud Khaled Gehad , Sestito Michael P. , Jamie Saeid , Boone Brian A.
Published: July 2024

The gut microbiome plays a significant role in the pathogenesis of pancreatic ductal adenocarcinoma (PDAC), influencing oncogenesis, immune responses, and treatment outcomes. Studies have identified microbial species like Porphyromonas gingivalis and Fusobacterium nucleatum, that promote PDAC progression through various mechanisms. Additionally, the gut microbiome affects immune cell activation and response to immunotherapy, including immune checkpoint inhibitors and CAR-T therapy. Specific microbes and their metabolites play a significant role in the effectiveness of immune checkpoint inhibitors (ICIs). Alterations in the gut microbiome can either enhance or diminish responses to PD-1/PD-L1 and CTLA-4 blockade therapy. Additionally, bacterial metabolites like trimethylamine N-oxide (TMAO) and lipopolysaccharide (LPS) impact antitumor immunity, offering potential targets to augment immunotherapy responses. Modulating the microbiome through fecal microbiota transplantation, probiotics, prebiotics, dietary changes, and antibiotics shows promise in PDAC treatment, although outcomes are highly variable. Dietary modifications, particularly high-fiber diets and specific fat consumption, influence microbiome composition and impact cancer risk. Combining microbiome-based therapies with existing treatments holds potential for improving PDAC therapy outcomes, but further research is needed to optimize their effectiveness.
Dynamic changes in the proximitome of neutral sphingomyelinase-2 (nSMase2) in TNFα stimulated Jurkat cells
Authors: Schöl Marie , Schempp Rebekka , Hennig Thomas , Wigger Dominik , Schumacher Fabian , Kleuser Burkhard , Stigloher Christian , van Ham Marco , Jänsch Lothar , Schneider-Schaulies Sibylle , Dölken Lars , Avota Elita
Published: July 2024

Ceramides generated by the activity of the neutral sphingomyelinase 2 (nSMase2) play a pivotal role in stress responses in mammalian cells. Dysregulation of sphingolipid metabolism has been implicated in numerous inflammation-related pathologies. However, its influence on inflammatory cytokine-induced signaling is yet incompletely understood. Here, we used proximity labeling to explore the plasma membrane proximal protein network of nSMase2 and TNFα-induced changes thereof. We established Jurkat cells stably expressing nSMase2 C-terminally fused to the engineered ascorbate peroxidase 2 (APEX2). Removal of excess biotin phenol substantially improved streptavidin-based affinity purification of biotinylated proteins. Using our optimized protocol, we determined nSMase2-proximal biotinylated proteins and their changes within the first 5 min of TNFα stimulation by quantitative mass spectrometry. We observed significant dynamic changes in the nSMase2 microenvironment in response to TNFα stimulation consistent with rapid remodeling of protein networks. Our data confirmed known nSMase2 interactors and revealed that the recruitment of most proteins depended on nSMase2 enzymatic activity. We measured significant enrichment of proteins related to vesicle-mediated transport, including proteins of recycling endosomes, trans-Golgi network, and exocytic vesicles in the proximitome of enzymatically active nSMase2 within the first minutes of TNFα stimulation. Hence, the nSMase2 proximal network and its TNFα-induced changes provide a valuable resource for further investigations into the involvement of nSMase2 in the early signaling pathways triggered by TNFα.
Electrical impedance based condition monitoring of machine elements–a systematic review
Authors: Becker-Dombrowsky Florian Michael , Kirchner Eckhard
Published: July 2024

Condition monitoring of machine elements becomes more important over the last years. Different approaches to detect failures in mechanical components have been developed. All these methods are located at a distance from the point of interest, the observed machine element. This leads to uncertainties in the data, which influences the data quality negatively. Using the electrical impedance for condition monitoring enables in situ measurement with reduced uncertainties and higher data quality. In the last years, research considering this topic was done, but a systematic overview is missing. In this article, a systematic literature research according to the PRISMA approach is fulfilled. The main questions are, what application fields for electrical impedance-based condition monitoring approaches exists and which research gaps are not addressed yet. At the end, 21 articles are categorized in their application fields. Analyzing their content, research questions are identified which have to be addressed in further investigations.
Spatial variation of short birth intervals and their determinant factors among reproductive women in Ethiopia using a geographically weighted regression model
Authors: Arega Gezachew Gebeyehu , Mitku Aweke Abebaw , Mohammed Hussen Nuru , Mamaru Awoke Shegaw , Berelie Berehan Haymanot , Alem Kasaneh Jigar
Published: July 2024

Background

In low- and middle-income nations, a significant proportion of maternal and infant deaths are caused by a short birth interval (SBI). In Ethiopia, it is the main factor contributing to maternal and infant mortality. Understanding the spatial distribution of SBIs, i.e., birth intervals of less than 33 months, and the factors that influence them is important for categorizing and promoting targeted interventions. This study used a geographically weighted regression model to evaluate the factors associated with SBIs in hot areas of Ethiopia.

Methods

The 2019 Ethiopian Mini Demographic and Health Survey, which is nationally representative, provided the data for this study. The first step in the two-stage cluster design used to collect the data was enumeration areas, and the second stage was households. The survey was conducted between 21 March 2019 and 28 June 2019. A hot spot analysis (local Getis-Ord Gi* statistics) was initially used to investigate spatial variation in SBIs. Geographically weighted regression was used to examine the regional variation in the relationship between SBIs and the factors that cause them.

Result

The study indicated that the overall proportion of SBIs among women in Ethiopia was 43.2%. The values for Global Moran’s I (Moran’s I = 0.773 and p < 0.001) showed the presence of significant SBIs clustering in Ethiopian administrative zones in Ethiopia. High-risk areas of the SBIs include Jarar, Doolo, Shabelle, Afder, Liben, Korahe, Nogob, West Harerge, Guji, Sidama, and Assosa zones.

Conclusion

Living in a geographic region with a high proportion of uneducated women, women lacking breastfeeding practices, and followers of Orthodox religions increased the proportion of SBIs. Our full map of hot spots for short birth spacing and the factors that affect them helps in the implementation of precise public health measures for decision-makers.
Case report: Pellagra presentation with dermatitis and dysphagia
Authors: Mengistu Segenet Bizuneh , Ali Iman , Alemu Hiwot , Melese Endalkachew Belayneh
Published: July 2024

Pellagra is a disorder caused by a deficiency of niacin or tryptophan, manifested by characteristic dermatitis on sun-exposed areas of the skin. Gastrointestinal involvement is common, and symptoms include glossitis, stomatitis, and diarrhea. Neurologic symptoms can occur in some patients, including dementia, anxiety, depression, tremors, hyporeflexia and, in severe cases, encephalopathy. We present the case of a woman with hyperpigmentation and hyperkeratosis on sun-exposed areas of the skin along with progressive dysphagia. Notably, she did not report diarrhea or any neurologic or psychiatric symptoms. Her symptoms were most consistent with pellagra, and niacin supplementation was initiated, leading to recovery. This case report highlights that dermatitis and dysphagia, the main gastrointestinal manifestations, can be the only symptoms in patients with pellagra, requiring a high index of suspicion in dermatologic settings to diagnose and treat this fatal condition early.
Case report: Immunotherapy guided by molecular profiling of tumors: illustrative cases and literature review
Authors: Ozdogan Mustafa , Papadopoulou Eirini , Metaxa-Mariatou Vasiliki , Kapetsis George , Meintani Angeliki , Florou-Chatzigiannidou Chrysiida , Yildiz Akin , Cakir Muharrem Okan , Kirca Onder , Nasioulas George
Published: July 2024

Predictive biomarkers are necessary for the identification of immunotherapy-responsive patients. Tumor mutation burden (TMB), as determined by next-generation sequencing (NGS), and PD-L1 expression, as evaluated by Immunohistochemistry (IHC), are the biomarkers most frequently employed in clinical practice. In addition, microsatellite instability (MSI) was the first biomarker to demonstrate immunotherapy efficacy irrespective of the type of tumor and possesses a high predictive value. However, its limited use across most tumor types limits its therapeutic potential. This report describes two cancer patients with positive TMB and PD-L1 expression. The molecular profile of the tumor indicated that the first patient was responsive to Immune checkpoint inhibitors (ICI), while the second patient was resistant. These case studies demonstrate that tumor molecular analysis in combination with immunotherapy predictive biomarkers, such as PD-L1 expression and TMB, can enhance the prediction of response to ICI for specific patients. This methodology enables an individualized and improved approach to the treatment and management of the disease.
Tree age affects carbon sequestration potential via altering soil bacterial community composition and function
Authors: Ma Fengfeng , Liu Yang , Qi Youxiang , Deng Nan , Xiang Huahao , Qi Chuanlei , Peng Pai , Jia Liming , Zhang Xuan
Published: July 2024

Among various factors related to the forest carbon pool, the tree stand age, which interacts with soil organic matter, decomposition rates, and microbial activity, is essential and cannot be disregarded. However, knowledge about how tree phases influence soil carbon sinks is not adequate. This study sampled Larix kaempferi (Japanese larch) plantations with different tree stand ages to investigate the temporal dynamics of soil carbon sink in the forest. Physiochemical analyses and high-throughput sequencing results further revealed the interactions of tree stands and their related rhizosphere microbiome. It was found that microbial composition and metabolic activity were significantly affected by different tree ages, whose structures gradually diversified and became more stable from young to mature forests. Many keystone taxa from the phyla Chloroflexi, Proteobacteria, Acidobacteriota, and Nitrospirota were found to be associated with carbon transformation processes. Interestingly, the carbon resource utilization strategies of microbial groups related to tree ages also differed, with near-mature forest soils showing better labile carbon degradation capacity, and mature forests possessing higher degradation potential of recalcitrant carbon. Age-altered tree growth and physiology were found to interact with its rhizosphere microbiome, which is the driving factor in the formation and stability of forest soil carbon. This study highlighted that the tree age-associated soil microbiomes, which provided insights into their effects on soil carbon transformation, were significant in enhancing the knowledge of carbon sequestration in L. kaempferi plantations.
Phylogenetic and phenotypic characterization of Burkholderia pseudomallei isolates from Ghana reveals a novel sequence type and common phenotypes
Authors: Schully Kevin L. , Voegtly Logan J. , Rice Gregory K. , Drumm Hannah , Fitzpatrick Maren C. , Malagon Francisco , Shea April , Dong Ming , Oduro George , Robberts F. J. Lourens , Dartey Paul K. A. , Owusu-Ofori Alex , Clark Danielle V. , Cer Regina Z. , Bishop-Lilly Kimberly A.
Published: July 2024

Melioidosis is a potentially severe disease caused by the gram-negative soil-dwelling bacterium called Burkholderia pseudomallei. The true breadth of the distribution of this tropical pathogen is starting to emerge with environmental and clinical isolates frequently characterized in new countries and regions. Even so, isolates, clinical cases, and genetic data from the continent of Africa remain scant. We previously confirmed the presence of B. pseudomallei in the environment of Ghana, unmasking a new area of endemicity for this pathogen. Here, we describe the genetic characteristics of isolates obtained from that environmental survey. Twenty-one isolates were subjected to whole genome sequencing and found to represent three discrete sequence types (ST), one of which was novel, and designated ST2058. Phylogenetic analysis places this novel isolate within a B. pseudomallei clade that includes genomes derived from the Americas, although it is closely related to a sub-clade that includes isolates from Africa. Importantly, phenotypic characterization demonstrates common features including API 20NE profiles and B. pseudomallei CPS to support existing diagnostics, and susceptibility to standard of care antibiotics often used in the clinical management of melioidosis. These findings add to our knowledge about the presence and distribution of B. pseudomallei in Africa and represent the first published genomes out of Ghana.
Mayaro Virus as the cause of Acute Febrile Illness in the Colombian Amazon Basin
Authors: Perez-Restrepo Laura S. , Ciuoderis Karl , Usuga Jaime , Moreno Isabel , Vargas Vanessa , Arévalo-Arbelaez Angela J. , Berg Michael G. , Cloherty Gavin A. , Hernández-Ortiz Juan Pablo , Osorio Jorge E.
Published: July 2024

Introduction

Mayaro Fever (MF) is a tropical disease caused by the Mayaro virus (MAYV), with outbreaks documented in Latin America.

Methods

A hospital-based fever surveillance in Leticia, Colombian Amazon, collected sera from 1,460 patients aged 5-89 between December 2020 and April 2023.

Results

Dengue and malaria were the main diagnoses (19.4 and 5.8%, respectively), leaving 71.4% of cases unidentified after testing. Metagenomic sequencing and real-time RT-qPCR testing identified MAYV in two patients (25-year-old male and an 80-year-old female) exhibiting typical symptoms, of MF including rash, joint pain, and fever. Phylogenetics analysis of these two viruses revealed a close relationship to Peruvian strains within the MAYV D genotype.

Discussion

The study of AFI in Leticia, Colombia, identified dengue as prevalent, with malaria, COVID-19, Influenza, and Zika viruses also detected. Despite extensive testing, most cases remained unexplained until metagenomic sequencing revealed MAYV, previously unseen in Colombia but known in neighboring countries.

Conclusion

This study presents the first near full-length genomes of MAYV in Colombia, highlighting the need for further seroprevalence studies and enhanced surveillance to understand and control the spread of the virus in the region.
The microbial community structure and nitrogen cycle of high-altitude pristine saline lakes on the Qinghai-Tibetan plateau
Authors: Zhao Zhe , Zhao Yuxiang , Marotta Federico , Xamxidin Maripat , Li Huan , Xu Junquan , Hu Baolan , Wu Min
Published: July 2024

The nitrogen (N) cycle is the foundation of the biogeochemistry on Earth and plays a crucial role in global climate stability. It is one of the most important nutrient cycles in high-altitude lakes. The biogeochemistry of nitrogen is almost entirely dependent on redox reactions mediated by microorganisms. However, the nitrogen cycling of microbial communities in the high-altitude saline lakes of the Qinghai-Tibet Plateau (QTP), the world’s “third pole” has not been investigated extensively. In this study, we used a metagenomic approach to investigate the microbial communities in four high-altitude pristine saline lakes in the Altun mountain on the QTP. We observed that Proteobacteria, Bacteroidota, and Actinobacteriota were dominant in these lakes. We reconstructed 1,593 bacterial MAGs and 8 archaeal MAGs, 1,060 of which were found to contain nitrogen cycle related genes. Our analysis revealed that nitrite reduction, nitrogen fixation, and assimilatory nitrate reduction processes might be active in the lakes. Denitrification might be a major mechanism driving the potential nitrogen loss, while nitrification might be inactive. A wide variety of microorganisms in the lake, dominated by Proteobacteria, participate together in the nitrogen cycle. The prevalence of the dominant taxon Yoonia in these lakes may be attributed to its well-established nitrogen functions and the coupled proton dynamics. This study is the first to systematically investigate the structure and nitrogen function of the microbial community in the high-altitude pristine saline lakes in the Altun mountain on the QTP. As such, it contributes to a better comprehension of biogeochemistry of high-altitude saline lakes.
Molecular epidemiology and genomic features of Bordetella parapertussis in Shanghai, China, 2017–2022
Authors: Fu Pan , Li Yijia , Qin Jie , Xie Li , Yang Chao , Wang Chuanqing
Published: July 2024

Background

Pertussis is a highly contagious respiratory illness mainly caused by Bordetella pertussis (BP). Bordetella parapertussis (BPP) can induce symptoms compatible with pertussis, but has been underdiagnosed and underreported. The current pertussis vaccines offer low protection against BPP. Herein, we aim to reveal the epidemiology and genomic evolution of BPP in Shanghai, China.

Methods

Children diagnosed with BPP infection from January 2017 to December 2022 in Shanghai, China were enrolled. We performed antimicrobial susceptibility testing (AST), multiple locus variable-number tandem repeat analysis (MLVA), and whole genome sequencing (WGS) analysis. A total of 260 international BPP genomes were chosen for comparison to investigate the genomic diversity and phylogenetic characteristics of Chinese strains within a global context.

Results

Sixty patients were diagnosed with BPP infection by culture, with the positive ratio of 3.5‰ (60/17337) for BPP in nasopharyngeal swap samples. The average age of patients was 4.5 ± 0.3 years. BPPs contained four MLVA types including MT6 (65.0%), MT4 (26.7%), untype-1 (6.7%) and MT5 (1.7%), and none of strains showed resistance to macrolides. All strains carried virulence genotype of ptxP37/ptxA13/ptxB3/ptxC3/ptxD3/ptxE3/fim2-2/fim3-10. MT4 and MT5 strains carried prn54, whereas MT6 and untype-1 BPPs expressed prn101. We identified two outbreaks after 2020 caused by MT4 and MT6 strains, each corresponding to distinct WGS-based phylogenetic lineages. The MT4-lineage is estimated to have originated around 1991 and has since spread globally, being introduced to China between 2005 and 2010. In contrast, the MT6-lineage was exclusively identified in China and is inferred to have originated around 2002.

Conclusion

We revealed the genomic diversity of BPPs circulating in Shanghai, China, and reported the outbreaks of MT6 and MT4 BPPs after 2020. This is the first report on the emergence and regional outbreak of MT6 BPPs in the world, indicating that continuous surveillance on BPPs are thus required.
Potential increased propofol sensitivity in cognitively impaired elderly: a controlled, double-blind study
Authors: Zhuge Huiting , Zhou Yu , Qiu Yimin , Huang Xiaojing
Published: July 2024

Background

Cognitive impairment in the elderly may lead to potential increased sensitivity to anesthetic agents targeting receptors associated with cognition. This study aimed to explore the effect of cognitive status on propofol consumption during surgery in elderly patients.

Methods

Sixty elderly patients scheduled for laparoscopic radical prostatectomy were allocated to either a cognitively normal [CogN, Montreal Cognitive Assessment (MoCA) score ≥26] or cognitively impaired (CogI, MoCA <26) group. Propofol was administered via target-controlled infusion to maintain a bispectral index (BIS) between 55–65 during surgery. Propofol consumption was recorded at three time points: T1 (abolished eyelash reflex), T2 (BIS = 50), T3 (extubation). BIS values at eyelash reflex abolition were also recorded. Postoperative MoCA, Visual Analogue Scale (VAS) scores, and remifentanil/sufentanil consumption were assessed.

Results

BIS values before induction were similar between CogN and CogI groups. However, at eyelash reflex abolition, BIS was significantly higher in CogI than CogN (mean ± SD: 65.3 ± 7.2 vs. 61.1 ± 6.8, p = 0.031). Propofol requirement to reach BIS 50 was lower in CogI vs. CogN (1.24 ± 0.19 mg/kg vs. 1.46 ± 0.12 mg/kg, p = 0.003). Postoperative MoCA, VAS scores, and remifentanil/sufentanil consumption did not differ significantly between groups.

Conclusion

Compared to cognitively intact elderly, those with cognitive impairment exhibited higher BIS at eyelash reflex abolition and required lower propofol doses to achieve the same BIS level, suggesting increased propofol sensitivity. Cognitive status may impact anesthetic medication requirements in the elderly.
Pain-induced effects on the pupillary light response under high and low illumination conditions
Authors: Kursawe Michael , Ehrlichmann Heike , Weber Walter , Krabbe Julia , Kraus Thomas
Published: July 2024

Objective

The present study investigated the impact of two different light intensities on the pain-modulated pupillary light response (PLR). Additionally, it aimed to demonstrate parasympathetic and sympathetic influences on PLR parameters in response to pain, as predicted by functional models.

Method

A total of 24 participants were included in a randomized, repeated-measures design. The PLR was measured in response to both dark and bright light stimuli within two test cycles. Pain was induced using the cold pressor test (CPT), which involved immersing participants' feet in ice water. PLR measurements were taken during baseline and ice-water immersion within each test cycle. The assessed PLR parameters included initial diameter (INIT), latency (LAT), amplitude (AMP), and re-dilation time (ReDIL25). Along with these parameters, heart rate (HR) and pain ratings were also computed and analyzed.

Main results

The CPT caused moderate pain in participants, and the resulting PLR parameters were found to be congruent with the expected parasympathetic and sympathetic nervous system activities. Although the luminance of the stimulus did influence PLR parameters, no interaction with pain exposure was found.

Significance

The results showed that different aspects of pain experienced by an individual, as modulated through the sympathetic and parasympathetic nervous systems, are visible in their pupillary reactions to light. Notably, within the range used in the current study, light intensity did not significantly affect the pain-related PLR effects.
Optic nerve and chiasm hemangioblastomas in von Hippel-Lindau disease: report of 12 cases and review of the literature
Authors: Vergauwen Evelynn , Klingler Jan-Helge , Krüger Marie T. , Steiert Christine , Kuijpers Robert , Rosahl Steffen , Vanbinst Anne-Marie , Andreescu Corina Emilia , Gläsker Sven
Published: July 2024

Introduction

Optic nerve and chiasm hemangioblastomas are rare tumors, occurring sporadically or in the context of von Hippel-Lindau (VHL) disease. They have only been portrayed in isolated case reports and small cohorts. Their natural history and therapeutic strategies are only scarcely described. To better characterize these rare tumors, we retrospectively analyzed an optic nerve and chiasm hemangioblastoma series of 12 VHL patients. By combining our own experience to a review of all known cases in literature, we intended to create treatment recommendations for optic nerve and chiasm hemangioblastomas in VHL patients.

Methods

We reviewed two electronic databases in the hospitals of our senior authors, searching for VHL patients with optic nerve or chiasm hemangioblastomas. Clinical data were summarized. Tumor size and growth rate were measured on contrast enhanced MRI. Comparable data were collected by literature review of all available cases in VHL patients (Pubmed, Trip, Google and Google Scholar).

Results

Of 269 VHL patients, 12 had optic nerve or chiasm hemangioblastomas. In 10 of 12 patients, tumors were diagnosed upon annual ophthalmoscopic/MRI screening. Of 8 patients who were asymptomatic at diagnosis, 7 showed absent or very slow annual progression, without developing significant vision impairment. One patient developed moderate vision impairment. Two symptomatic patients suffered from rapid tumor growth and progressive vision impairment. Both underwent late-stage surgery, resulting in incomplete resection and progressive vision impairment. One patient presented with acute vision field loss. A watchful-waiting approach was adopted because the hemangioblastoma was ineligible for vision-sparing surgery. One patient developed progressive vision impairment after watchful waiting. In the literature we found 45 patient cases with 48 hemangioblastomas.

Discussion

When optic nerve and chiasm hemangioblastomas are diagnosed, we suggest annual MRI follow-up as long as patients do not develop vision impairment. If tumors grow fast, threaten the contralateral eye, or if patients develop progressive vision deficiency; surgical resection must be considered because neurological impairment is irreversible, and resection of large tumors carries a higher risk of further visual decline.