bluuebunny/crossref_metadata_2025 huggingface dataset:
Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations
Authors: Ali Dalal S. , Marini Francesca , Alsarraf Farah , Alalwani Hatim , Alamri Abdulrahman , Khan Aliya A. , Brandi Maria Luisa
Published: August 2023

Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous activating mutation of the calcium-sensing receptor (CaSR) gene, encoding a G-Protein-coupled cell membrane sensor of extracellular calcium concentration mainly expressed by parathyroid glands, renal tubules, and the brain. ADH1 has been linked to 113 unique germline mutations, of which nearly 96% are missense mutations. There is often a lack of a clear genotype/phenotype correlation in the reported literature. Here, we described a case series of 6 unrelated ADH1 probands, each one bearing a gain-of-function CaSR mutation, and two children of one of these cases, matching our identified mutations to the same ones previously reported in the literature, and comparing the clinical and biochemical characteristics, as well as the complication profile. As a result of these genetic and clinical comparisons, we propose that a genotype/phenotype correlation may exist because our cases showed similar presentation, characteristics, and severity, with respect to published cases with the same or similar mutations. We also contend that the severity of the presentation is highly influenced by the specific CaSR variant. These findings, however, require further evaluation and assessment with a systematic review.
Production, optimization, and physicochemical characterization of biodiesel from seed oil of indigenously grown Jatropha curcas
Authors: Haq Abdul , Laiq Ur Rehman Mian , Rana Qurrat ul Ain , Khan Alam , Sajjad Wasim , Khan Haji , Khan Samiullah , Shah Aamer Ali , Hasan Fariha , Ahmed Safia , Islam Arshad , Badshah Malik , Shah Tawaf Ali , Dawoud Turki M. , Bourhia Mohammed
Published: August 2023

With the growing demand for vegetable oils, alternative non-edible feedstocks like Jatropha curcas seed oil have gained interest for biodiesel production. The study aimed to comprehensively evaluate the physicochemical properties and biodiesel production potential of locally produced J. curcas seeds in Pakistan. Two different approaches were applied: a chemical synthesis approach involving acidic pretreatment and alkaline transesterification, and a biosynthetic approach using a lipase-producing strain of the Bacillus subtilis Q5 strain. The microbial biosynthesized biodiesel was further optimized using the Plackett–Burman design. The physicochemical properties of the J. curcas methyl esters were analyzed to assess their suitability as biodiesel fuel. Initially, the raw oil had a high free fatty acid content of 13.11%, which was significantly reduced to 1.2% using sulfuric acid pretreatment, keeping the oil to methanol molar ratio to be 1:12. Afterward, alkaline transesterification of purified acid-pretreated seed oil resulted in 96% biodiesel yield at an oil to methanol molar ratio of 1:6, agitation of 600 revolutions per minute (RPM), temperature 60°C, and time 2 h. Moreover, alkaline transesterification yielded ∼98% biodiesel at the following optimized conditions: oil to methanol molar ratio 1:6, KOH 1%, time 90 min, and temperature 60°C. Similarly, the Bacillus subtilis Q5 strain yielded ∼98% biodiesel at the following optimized conditions: oil: methanol ratio of 1:9, agitation 150 RPM, inoculum size 10%, temperature 37°C, and n-hexane 10%. The fuel properties of J. curcas seed biodiesel are closely related to standard values specified by the American Society for Testing and Materials (ASTM D6751–20a), indicating its potential as a viable biodiesel fuel source.
Deforestation perspectives of dry temperate forests: main drivers and possible strategies
Authors: Ali Ehsan , Azhar Muhammad Farooq , Alam Edris , Rehman Zainab , Ullah Sami , Ahmad Aqeel , Towfiqul Islam Abu Reza Md. , Zaman Wajid , Javed Muhammad , Mittal Praveen
Published: August 2023

Deforestation is the accelerating factor of climate change in developing countries. The German Watch Report 2020 had rated Pakistan number seventh most affected country due to adverse impacts of climate change. The problem of deforestation poses an existential danger to the forest-depleted country. It is of utmost importance to predict the main drivers to control deforestation. This study was conducted from October 2021 to August 2022 in dry temperate forests of the Chilas to investigate the current condition, causes of deforestation, and predicted the main drivers by using a binary regression model. Stratified random sampling techniques and fixed area plot method were used and taken ground measurements during field inventory to access current situation of deforestation. While a non-probability quota sampling technique and semi-structured questionnaire were utilized for the determination of main drivers of deforestation through respondent’s survey. The forest inventory result showed that most trees fall in immature and sub-mature (mainly in 10–20 and 20–30 cm) diameter classes while the binary logistic regression model predicted dominating four primary drivers (unsustainable fuel wood extraction, unsustainable timber extraction and urban crawling and rural expansion/habituation, and free and uncontrolled livestock grazing) and one secondary driver (wood for energy needs). To address the underlying causes of deforestation, the government must supply alternate energy sources, as well as other economic possibilities to reduce dependency on forests.
Late Holocene riparian vegetation dynamics, environmental changes, and human impact in the Harapan forest of Sumatra, Indonesia
Authors: Nguyen Chung Hoai , Hapsari K. Anggi , Saad Asmadi , Sabiham Supiandi , Behling Hermann
Published: August 2023

Riparian wetland ecosystems provide important ecological services but are also vulnerable to climate change and human activities. To understand the influence of natural factors (e.g. climate change, flooding, drought) and human activities (e.g. agriculture) as well as to support management strategies, reconstructions of past vegetation and environmental changes are needed. To achieve this, we conducted a multi-proxy paleoecological analysis, including pollen and spores, macro-charcoal and radiocarbon dating, on a sediment core taken from a riparian area in the Harapan forest of Sumatra. Three distinct periods were identified: i) AD 1100 – 1400: Upland and swamp forest with riparian and herbaceous vegetation, possibly part of a riparian buffer zone (e.g. riverbank), was present in the study area under a stronger dry season regime; ii) AD 1400 – 1870: freshwater swamps expanded to the study site; iii) later, from AD 1870 to present, upland forests dominated in the study area with a strong dry season. The presence of cereal cultivation from AD 1300 – 1450, and oil palm (Elaeis guineensis) since the mid-19th century AD indicates the presence of small-scale agriculture in the study area. This study of riparian vegetation dynamics and environmental changes in the Harapan forest of Sumatra shows the development from a riparian forest to a freshwater swamp and upland forest under the impact of climate change and human activities.
Administration of BNT162b2 mRNA COVID-19 vaccine to subjects with various allergic backgrounds
Authors: Ribak Yaarit , Rubin Limor , Talmon Aviv , Dranitzki Zvi , Shamriz Oded , Hershkowitz Isca , Tal Yuval , Hershko Alon Y.
Published: August 2023

Background

The mRNA-based COVID-19 vaccine was introduced to the general public in December 2020. Shortly thereafter, safety concerns were raised due to the reporting of allergic reactions. Allergy-related disorders were suspected to be significant risk factors and the excipient polyethylene glycol was suggested to be a robust allergen.

Methods

This is a retrospective study analysis. Subjects with putative risk factors for severe allergic reactions to the Pfizer-BioNTech BNT162b2 vaccine were referred for vaccination under observation at the Unit of Allergy and Clinical Immunology. Data was collected for each subject, including demographic details, medical history and previous reactions to any allergen. When appropriate, skin tests were done prior to vaccination.

Results

A total of 346 subjects received 623 vaccine doses under observation. The study included patients with various allergy-related disorders (n=290) and those with allergy to a previous COVID-19 vaccine dose (n=56). Both groups showed female predominance (78% and 88%, p=NS). Patients without reactions to previous doses reported more drug allergy (80% vs. 39%, p<0.001) and previous anaphylaxis (64% vs. 14%, p<0.001). There was no difference in sensitivity to other allergens, including polyethylene glycol. Under observation, mild allergic reactions were noted in 13 individuals characterized by female gender (100%), a history of anaphylaxis (69%) and drug allergy (62%). In 7 subjects, allergy was treated with antihistamines while others recovered spontaneously.

Conclusion

Our study demonstrates that vaccination under specialist-supervision is a powerful tool for reducing over-diagnosis of systemic reactions and for rapid and reliable collection of vaccine safety data.
Characterization of a fatal feline panleukopenia virus derived from giant panda with broad cell tropism and zoonotic potential
Authors: Zhao Shan , Hu Huanyuan , Lan Jingchao , Yang Zhisong , Peng Qianling , Yan Liheng , Luo Li , Wu Lin , Lang Yifei , Yan Qigui
Published: August 2023

Represented by feline panleukopenia virus (FPV) and canine parvovirus (CPV), the species carnivore protoparvovirus 1 has a worldwide distribution through continuous ci13rculation in companion animals such as cats and dogs. Subsequently, both FPV and CPV had engaged in host-to-host transfer to other wild animal hosts of the order Carnivora. In the present study, we emphasized the significance of cross-species transmission of parvoviruses with the isolation and characterization of an FPV from giant panda displaying severe and fatal symptoms. The isolated virus, designated pFPV-sc, displayed similar morphology as FPV, while phylogenetic analysis indicated that the nucleotide sequence of pFPV-sc clades with Chinese FPV isolates. Despite pFPV-sc is seemingly an outcome of a spillover infection event from domestic cats to giant pandas, our study also provided serological evidence that FPV or other parvoviruses closely related to FPV could be already prevalent in giant pandas in 2011. Initiation of host transfer of pFPV-sc is likely with association to giant panda transferrin receptor (TfR), as TfR of giant panda shares high homology with feline TfR. Strikingly, our data also indicate that pFPV-sc can infect cell lines of other mammal species, including humans. To sum up, observations from this study shall promote future research of cross-host transmission and antiviral intervention of Carnivore protoparvovirus 1, and necessitate surveillance studies in thus far unacknowledged potential reservoirs.
Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function
Authors: Chang Jingjie , Yamashita Motoi , Padhi Aditya K. , Zhang Kam Y. J. , Taniuchi Ichiro
Published: August 2023

AIOLOS, encoded by IKZF3, is a member of the IKZF family of proteins that plays an important role in regulating late B-cell differentiation. Human individuals heterozygous for the AIOLOS p.N160S variant displayed impaired humoral immune responses as well as impaired B and T cell development. We have previously reported that a mouse strain harboring an Ikzf3N159S allele that corresponds to human IKZF3N160S recapitulated immune-deficient phenotypes, such as impaired B cell development and loss of CD23 expression. In this study, we investigated the effect of the Ikzf3N159S variant and found that B1a cell development was impaired in Ikzf3N159S/N159S mice. In addition, CD62L expression was severely decreased in both B and T lymphocytes by the Ikzf3N159S mutation, in a dose-dependent manner. Mixed bone marrow chimera experiments have revealed that most immunodeficient phenotypes, including low CD62L expression, occur in intrinsic cells. Interestingly, while Ikzf3N159S/N159S lymphocytes were still present in the spleen, they were completely outcompeted by control cells in the lymph nodes, suggesting that the capacity for homing or retention in the lymph nodes was lost due to the Ikzf3N159S mutation. The homing assay confirmed severely decreased homing abilities to lymph nodes of Ikzf3N159S/N159S B and T lymphocytes but selective enrichment of CD62L expressing Ikzf3N159S/N159S lymphocytes in lymph nodes. This finding suggests that impaired CD62L expression is the major reason for the impaired homing capacity caused by the Ikzf3N159S mutation. Interestingly, an excess amount of Ikaros, but not Aiolos, restored CD62L expression in Ikzf3N159S/N159S B cells. Together with the loss of CD62L expression due to Ikaros deficiency, the AiolosN159S mutant protein likely interferes with Ikaros function through heterodimerization, at least in activating the Sell gene encoding CD62L expression. Thus, our results revealed that AiolosN159S causes some immunodeficient phenotypes via the pathogenesis referred to as the heterodimeric interference as observed for AiolosG158R variant.
Integrative taxonomy approach to detect spatial and temporal variability of the Mediterranean benthic communities through artificial substrate units (ASUs)
Authors: Mugnai Francesco , Mikac Barbara , Colangelo Marina Antonia , Matterson Kenan Oguz , Abbiati Marco , Costantini Federica
Published: August 2023

Monitoring spatial and temporal changes of marine benthic communities using standardized procedures is essential to take necessary steps towards conservation of marine ecosystems. In this study we combined Artificial Substrate Units (ASUs) for sampling of benthic communities, with integrative taxonomy approach that incorporated morphological identification of organisms and COI DNA metabarcoding, to characterize the diversity of communities at three locations across the Central Mediterranean Sea (Livorno and Palinuro, Italy; Rovinj, Croatia) in 2019 and 2020. Significant differences in the communities’ structure were observed both at large spatial scale between sampled locations, and at small spatial scale (less than ten kilometers) between sites. Moreover, significant temporal variability in species richness and structure of benthic assemblages was detected, with higher richness in 2020. Revealed variability can probably be attributed to the peculiar geomorphological, oceanographical, and ecological features of locations, but also to the influence of interplaying local chemical and physical factors and biological processes such as species settlement, competition, and migration that can act at small spatial and temporal scales. The similarity in the species composition and community structure accessed by morphological and metabarcoding approaches was low, with only 16% of the species (out of 133 species identified overall) commonly detected by both approaches. This is mostly both due to a lack of data on COI sequences of numerous benthic invertebrates in the public barcoding databases on the one hand, and difficulties in detecting small and cryptic taxa through morphological analyses on the other. This suggests that combining of two approaches is required to fully describe the biodiversity of benthic assemblages. Finally, comparison of the spatial variability of the benthic communities’ structure with two approaches at different taxonomic levels, indicated that genus and family levels give results that are consistent to those obtained by the species level. This suggests that family level might be satisfactory in monitoring the spatial-temporal variability of Mediterranean hard bottom benthic communities.
Climate projections of meteotsunami hazards
Authors: Denamiel Cléa , Belušić Danijel , Zemunik Petra , Vilibić Ivica
Published: August 2023

Global climate models, indispensable for projecting the human-driven climate change, have been improving for decades and are nowadays capable of reproducing multiple processes (e.g., aerosols, sea-ice, carbon cycle) at up to 25 km horizontal resolution. Meteotsunami events – tsunami waves generated by mesoscale atmospheric processes – are properly captured only by sub-kilometre-scale downscaling of these models. However, the computational cost of long-term high-resolution climate simulations providing accurate meteotsunami hazard assessments would be prohibitive. In this article, to overcome this deficiency, we present a new methodology allowing to project sub-kilometre-scale meteotsunami hazards and their climate uncertainties at any location in the world. Practically, the methodology uses (1) synoptic indices to preselect a substantial number of short-term meteotsunami episodes and (2) a suite of atmospheric and oceanic models to downscale them from an ensemble of global models to the sub-kilometre-scale. Such approach, using hundreds of events to build robust statistics, could allow for an objective assessment of the meteotsunami hazards at the climate scale which, on top of sea level rise and storm surge hazards, is crucial for building adaptation plans to protect coastal communities worldwide.
Genetic alterations in juvenile cervical clear cell adenocarcinoma unrelated to human papillomavirus
Authors: Su Yuehui , Zhang Yiming , Zhou Mengjiao , Zhang Ruijin , Chen Siang , Zhang Lili , Wang Hao , Zhang Dongdong , Zhang Ting , Li Xinqiang , Zhang Chunyan , Wang Bingjie , Yuan Shuyu , Zhang Mengzhuo , Zhou Yingying , Cao Lili , Zhang Mengzhen , Luo Jianjun
Published: August 2023

Clear cell adenocarcinoma of the cervix (CCAC) is a special type of HPV-independent cervical cancer. It has a low incidence rate, can be difficult to diagnose early, has a poor prognosis. Its peak incidence is in adolescence, which poses a great threat to women’s health. Therefore, it is very important to explore the pathogenesis of cervical clear cell adenocarcinoma to guide subsequent treatment and prevention. This study analyzed 3 juvenile patients with CCAC diagnosed at the First Affiliated Hospital of Zhengzhou University. Using next-generation sequencing methods, we analyzed the pathogenesis of the patients and their close relatives by analyzing the genetic alterations of patients. CMTM5 was identified as the only shared mutated gene. Using published literature and comparative analyses of related disease-causing genes, 6 of the 19 genes (ALKBH7, MYCBP, MZF1, RNF207, RRS1, and TUSC2) were screened as genes with mutations in patients and had higher mutation rates in reproductive cancers. Pathway analysis showed that downregulated genes in non-HPV cervical cancer were mainly related to the immune system response, suggesting that non-HPV cervical cancer differs from HPV-infected cervical cancer in that the immune response is weaker, which is consistent with the weak correlation with viral infection.
Anti-inflammatory and biologic drugs for atopic dermatitis: a therapeutic approach in children and adolescents
Authors: Caffarelli Carlo , Giannetti Arianna , Giannì Giuliana , Ricci Giampaolo
Published: August 2023

Atopic dermatitis (AD) is a chronic inflammatory disease with a heterogeneous pathogenesis correlated with dysregulation of the immune system and a prevalence of the T2-mediated immune pathway. Recent understanding of the pathogenesis of AD has allowed the development of new drugs targeting different mechanisms and cytokines that have changed the treatment approach. The aim of this review is to update knowledge on the standard of care and recent advancements in the control of skin inflammation. In light of recent guidelines, we report on the clinical efficacy of novel treatments, with special attention to situations where biologics and small molecules are involved.
Tissue-preserving treatment with non-invasive physical plasma of cervical intraepithelial neoplasia—a prospective controlled clinical trial
Authors: Weiss Martin , Arnholdt Marcel , Hißnauer Anna , Fischer Irma , Schönfisch Birgitt , Andress Jürgen , Gerstner Sophia , Dannehl Dominik , Bösmüller Hans , Staebler Annette , Brucker Sara Y. , Henes Melanie
Published: August 2023

Objective

Cervical cancer represents the fourth leading cause of cancer among women and is associated with over 311,000 annual deaths worldwide. Timely diagnosis is crucial given the lengthy pre-cancerous phase, which is typified by cervical intraepithelial neoplastic lesions. However, current treatment methods are often tissue-destructive and can be accompanied by severe side effects. To address these concerns, our study introduces a novel, gentle approach for the tissue-preserving treatment of CIN lesions.

Results

We present findings of a controlled, prospective, single-armed phase IIb clinical trial performed at the Department for Women’s Health, Tübingen, Germany. From September 2017 to March 2022 we assessed 570 participants for study eligibility. Of the screened patients, 63 participants met with CIN1/2 lesions met the inclusion criteria and were treated with non-invasive physical plasma (NIPP). Assessment of treatment efficacy was based on a comprehensive analysis of histological and cytological findings, along with high-risk HPV infection load at 3 and 6 months post-treatment. Comparative analyses were performed retrospectively with data obtained from 287 untreated patients in the control group. Our findings indicate that patients treated with NIPP experienced an 86.2% rate of full remission, along with a 3.4% rate of partial remission of CIN lesions, which compares favorably to the control group’s rates of 40.4% and 4.5%, respectively. Additionally, we observed a twofold reduction in high-risk HPV infections following NIPP treatment. Minor side effects were observed, such as mild pain during treatment and short-term smear bleeding or increased vaginal discharge within 24 h after treatment. Given the experimental nature of NIPP treatment and the availability of established standard treatments, our study was designed as a non-randomized study.

Conclusion

NIPP treatment offers a highly flexible and easy-to-apply method for treating pre-cancerous CIN1/2 lesions. This non-invasive approach is notable for its tissue-preserving nature, making it a promising alternative to current excisional and ablative treatments. CIN1/2 lesions were employed as preliminary in vivo models for the targeted treatment of CIN3 lesions.

Clinical trial registration

https://www.clinicaltrials.gov, identifier NCT03218436.
Recruitment and metabolomics between Canna indica and rhizosphere bacteria under Cr stress
Authors: Mao Huan , Zhao Wei , Yang Xiuqin , Sheng Luying , Zhu Sixi
Published: August 2023

It is of positive significance to explore the mechanism of antioxidant and metabolic response of Canna indica under Cr stress mediated by rhizosphere niche. However, the mechanisms of recruitment and interaction of rhizosphere microorganisms in plants still need to be fully understood. This study combined physiology, microbiology, and metabolomics, revealing the interaction between C. indica and rhizosphere microorganisms under Cr stress. The results showed that Cr stress increased the content of malondialdehyde (MDA) and oxygen-free radicals (ROS) in plants. At the same time, the activities of antioxidant enzymes (SOD, POD, and APX) and the contents of glutathione (GSH) and soluble sugar were increased. In addition, Cr stress decreased the α diversity index of C. indica rhizosphere bacterial community and changed its community structure. The dominant bacteria, namely, Actinobacteriota, Proteobacteria, and Chloroflexi accounted for 75.16% of the total sequence. At the same time, with the extension of stress time, the colonization amount of rhizosphere-dominant bacteria increased significantly, and the metabolites secreted by roots were associated with the formation characteristics of Proteobacteria, Actinobacteria, Bacteroidetes, and other specific bacteria. Five critical metabolic pathways were identified by metabolome analysis, involving 79 differentially expressed metabolites, which were divided into 15 categories, mainly including lipids, terpenoids, and flavonoids. In conclusion, this study revealed the recruitment and interaction response mechanism between C. indica and rhizosphere bacteria under Cr stress through multi-omics methods, providing the theoretical basis for the remediation of Cr-contaminated soil.
Causal effects of specific gut microbiota on musculoskeletal diseases: a bidirectional two-sample Mendelian randomization study
Authors: Chen Shuai , Han Huawei , Sun Xiaohe , Zhou Guowei , Zhou Qing , Li Zhiwei
Published: August 2023

Background

Recent observational studies and clinical trials demonstrated an association between gut microbiota and musculoskeletal (MSK) diseases. Nonetheless, whether the gut microbiota composition has a causal effect on the risk of MSK diseases remains unclear.

Methods

Based on large-scale genome-wide association studies (GWAS), we performed a two-sample Mendelian randomization (MR) analysis to investigate the causal relationship between gut microbiota and six MSK diseases, namely osteoporosis (OP), fracture, sarcopenia, low back pain (LBP), rheumatoid arthritis (RA), and ankylosing spondylitis (AS). Instrumental variables for 211 gut microbiota taxa were obtained from the largest available GWAS meta-analysis (n = 18,340) conducted by the MiBioGen consortium. And the summary-level data for six MSK diseases were derived from published GWAS. The inverse-variance weighted (IVW) method was conducted as a primary analysis to estimate the causal effect, and the robustness of the results was tested via sensitivity analyses using multiple methods. The Bonferroni-corrected test was used to determine the strength of the causal relationship between gut microbiota and various MSK diseases. Finally, a reverse MR analysis was applied to evaluate reverse causality.

Results

According to the IVW method, we found 57 suggestive causal relationships and 3 significant causal relationships between gut microbiota and MSK diseases. Among them, Genus Bifidobacterium (β: 0.035, 95% CI: 0.013–0.058, p = 0.0002) was associated with increased left handgrip strength, Genus Oxalobacter (OR: 1.151, 95% CI: 1.065–1.245, p = 0.0003) was correlated with an increased risk of LBP, and Family Oxalobacteraceae (OR: 0.792, 95% CI: 0.698–0.899, p = 0.0003) was linked with a decreased risk of RA. Subsequently, sensitivity analyses revealed no heterogeneity, directional pleiotropy, or outliers for the causal effect of specific gut microbiota on MSK diseases (p > 0.05). Reverse MR analysis showed fracture may result in a higher abundance of Family Bacteroidales (p = 0.030) and sarcopenia may lead to a higher abundance of Genus Sellimonas (p = 0.032).

Conclusion

Genetic evidence suggested a causal relationship between specific bacteria taxa and six MSK diseases, which highlights the association of the “gut-bone/muscle” axis. Further exploration of the potential microbiota-related mechanisms of bone and muscle metabolism might provide novel insights into the prevention and treatment of MSK diseases.
Case report: Reversible splenial lesion syndrome caused by diquat poisoning
Authors: Dai Ping , Sun Jin , Yu Zhongkai , Zhang Tongyue , Wen Zixin , Jian Tianzi , Guo Lanlan , Genjiafu Aerbusili , Kan Baotian , Zhang Binbin , Jian Xiangdong
Published: August 2023

Diquat (DQ), chemically known as 1,1 ‘-ethylene-2,2’ -bipyridine, is a non-selective herbicide for leaf removal and drying. It has toxic effects on central nervous system cells, and toxic neurological lesions include axonal degeneration and pontine myelolysis. At the same time, DQ can also affect the activity of dopaminergic nerve cells through oxidative stress, causing degeneration and reducing dopamine uptake. With the increasing application of DQ in agricultural production, the clinical reports of neurotoxicity caused by acute DQ poisoning are also increasing. At present, DQ rapid-phase-related toxic encephalopathy mainly involves the pons, midbrain, basal ganglia, thalamus and other brain regions. However, this case is unusual in that the lesion mainly involved the splenium of the corpus callosum. It is also the first time to be reported.
Repetitive nerve stimulation on survival in amyotrophic lateral sclerosis
Authors: Zhu Yahui , Bai Jiongming , Li Mao , Wang Hongfen , Wang Jiao , Huang Xusheng
Published: August 2023

Objective

No previous studies investigated the association between decrement of low-frequency repetitive nerve stimulation (LF-RNS) and amyotrophic lateral sclerosis (ALS) survival. We aim to study the relationship between decrement and survival in ALS.

Methods

Sporadic ALS patients diagnosed at the Department of Neurology, the First Medical Center, Chinese PLA General Hospital from January 2018 to December 2019 were enrolled in this study. Experienced neurologists followed up the participants regularly every 6 months until January 2022. A decremental response of 10% or greater at least in one muscle was considered positive. According to the decrement, the participants were divided into LF-RNS (+) and LF-RNS (−) groups.

Results

One hundred and eighty-one sporadic ALS patients were recruited in our study, including 100 males and 81 females. Among them, 10 cases (5.5%) were lost to follow-up, 99 cases (54.7%) died, and 72 patients (39.8%) were still alive at the last follow-up. The median survival time of all ALS patients in this study was 42.0 months. There was no significant difference of median survival in LF-RNS(+) group and LF-RNS(−) group (p = 0.159, Kaplan–Meier method). In multivariate Cox regression analysis, age of onset, diagnostic delay, and ALS Functional Rating Scale-Revised (ALSFRS-R) score were associated with ALS survival, but the decrement was not correlated with ALS survival (p = 0.238).

Conclusion

The decrement in accessory and ulnar nerves was not associated with the survival of ALS. The decrement of LF-RNS could not be an electrophysiological marker to predict ALS survival.
Non-invasive transcranial alternating current stimulation of spatially resolved phosphenes
Authors: Sadrzadeh-Afsharazar Faraz , Douplik Alexandre
Published: August 2023

This study focused on the use of Non-Invasive Transcranial Alternating Current Stimulation (NITACS) to induce and map phosphenes (spark-like percepts in the visual field) in healthy individuals. The study found optimal stimulation parameters to induce reliable phosphenes without skin irritation or pain. The results suggest NITACS can be used as a tool to investigate the relationship between facial stimulation location and phosphene localization within the field of vision (FOV) and raise questions about the origin of phosphenes generated through NITACS. The outcomes of this study could serve as a source of inspiration for creating non-invasive visual aids in the future.
Cooperation between neurovascular dysfunction and Aβ in Alzheimer’s disease
Authors: Wang Niya , Yang Xiang , Zhao Zhong , Liu Da , Wang Xiaoyan , Tang Hao , Zhong Chuyu , Chen Xinzhang , Chen Wenli , Meng Qiang
Published: August 2023

The amyloid-β (Aβ) hypothesis was once believed to represent the pathogenic process of Alzheimer’s disease (AD). However, with the failure of clinical drug development and the increasing understanding of the disease, the Aβ hypothesis has been challenged. Numerous recent investigations have demonstrated that the vascular system plays a significant role in the course of AD, with vascular damage occurring prior to the deposition of Aβ and neurofibrillary tangles (NFTs). The question of how Aβ relates to neurovascular function and which is the trigger for AD has recently come into sharp focus. In this review, we outline the various vascular dysfunctions associated with AD, including changes in vascular hemodynamics, vascular cell function, vascular coverage, and blood–brain barrier (BBB) permeability. We reviewed the most recent findings about the complicated Aβ-neurovascular unit (NVU) interaction and highlighted its vital importance to understanding disease pathophysiology. Vascular defects may lead to Aβ deposition, neurotoxicity, glial cell activation, and metabolic dysfunction; In contrast, Aβ and oxidative stress can aggravate vascular damage, forming a vicious cycle loop.
A machine learning-based model for predicting distant metastasis in patients with rectal cancer
Authors: Qiu Binxu , Shen Zixiong , Wu Song , Qin Xinxin , Yang Dongliang , Wang Quan
Published: August 2023

Background

Distant metastasis from rectal cancer usually results in poorer survival and quality of life, so early identification of patients at high risk of distant metastasis from rectal cancer is essential.

Method

The study used eight machine-learning algorithms to construct a machine-learning model for the risk of distant metastasis from rectal cancer. We developed the models using 23867 patients with rectal cancer from the Surveillance, Epidemiology, and End Results (SEER) database between 2010 and 2017. Meanwhile, 1178 rectal cancer patients from Chinese hospitals were selected to validate the model performance and extrapolation. We tuned the hyperparameters by random search and tenfold cross-validation to construct the machine-learning models. We evaluated the models using the area under the receiver operating characteristic curves (AUC), the area under the precision-recall curve (AUPRC), decision curve analysis, calibration curves, and the precision and accuracy of the internal test set and external validation cohorts. In addition, Shapley’s Additive explanations (SHAP) were used to interpret the machine-learning models. Finally, the best model was applied to develop a web calculator for predicting the risk of distant metastasis in rectal cancer.

Result

The study included 23,867 rectal cancer patients and 2,840 patients with distant metastasis. Multiple logistic regression analysis showed that age, differentiation grade, T-stage, N-stage, preoperative carcinoembryonic antigen (CEA), tumor deposits, perineural invasion, tumor size, radiation, and chemotherapy were-independent risk factors for distant metastasis in rectal cancer. The mean AUC value of the extreme gradient boosting (XGB) model in ten-fold cross-validation in the training set was 0.859. The XGB model performed best in the internal test set and external validation set. The XGB model in the internal test set had an AUC was 0.855, AUPRC was 0.510, accuracy was 0.900, and precision was 0.880. The metric AUC for the external validation set of the XGB model was 0.814, AUPRC was 0.609, accuracy was 0.800, and precision was 0.810. Finally, we constructed a web calculator using the XGB model for distant metastasis of rectal cancer.

Conclusion

The study developed and validated an XGB model based on clinicopathological information for predicting the risk of distant metastasis in patients with rectal cancer, which may help physicians make clinical decisions. rectal cancer, distant metastasis, web calculator, machine learning algorithm, external validation
Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
Authors: Tovaglieri Nicola , Russo Silvia , Micaglio Emanuele , Corcelli Angela , Lobasso Simona
Published: August 2023

Background

Barth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria. This variable phenotype is caused by pathogenic hemizygous variants of the TAFAZZIN gene on the X chromosome, which impair metabolism of the mitochondrial phospholipid cardiolipin. Although most patients are usually diagnosed in the first years of life, the extremely variable clinical picture and the wide range of clinical presentations may both delay diagnosis. This is the case reported here of a man affected with severe neutropenia, who was not diagnosed with Barth syndrome until adulthood.

Case presentation

We describe herein a family case, specifically two Caucasian male cousins sharing the same mutation in the TAFAZZIN gene with a wide phenotypic variability: an infant who was early diagnosed with Barth syndrome due to heart failure, and his maternal cousin with milder and extremely different clinical features who has received the same diagnosis only at 33 years of age.

Conclusions

Our report supports the underestimation of the prevalence of Barth syndrome, which should be always considered in the differential diagnosis of male patients with recurrent neutropenia with or without signs and symptoms of cardiomyopathy.
Tunable narrowband and broadband coexisting absorber enabled by a simple all-metal grating for sensing applications
Authors: Wang Jianwei , Zhang Ze , Lin Zhiyan , Li Hanting , Gao Hua , Fan Zhenjun , Liu Haifeng
Published: August 2023

We realize a tunable narrowband and broadband coexisting absorber based on a simple step-shaped all-metal grating structure. The absorber presents an ultra-narrow absorption band of 1.5 nm and a relatively broad absorption band of 29.8 nm, both with nearly 100% absorption in the infrared region. The mechanism underlying the dual-band perfect absorption is the interaction between two diffraction coupled surface plasmon polariton (SPP) modes with one of them modulated by a cavity resonance. Influences of structure parameters on the absorption performance are numerically investigated. It is found that the positions of the two perfect absorption peaks can be easily tuned both independently and together by changing the structural parameters. In addition, the designed grating structure presents excellent sensing performance with sensitivity and figure of merit as high as 2,514 nm/RIU and 1,600 RIU−1, respectively. The excellent sensing performance, flexible tenability and simple structure design endow this grating absorber with great potential in high-precision biochemical sensing applications.
Improved chilling tolerance in glasshouse-grown potted sweet basil by end-of-production, short-duration supplementary far red light
Authors: Begum Firdous U. , Skinner George , Smieszek Sandra P. , Budge Simon , Stead Anthony D. , Devlin Paul F.
Published: August 2023

Sweet basil is a popular culinary herb used in many cuisines around the world and is widely grown commercially for retail as a live potted plant. However, basil is easily damaged by temperatures below 12 °C meaning plants must be transported from the grower to the retailer in a warm transport chain, adding considerable commercial cost in temperate countries. Improvement of chilling tolerance has been demonstrated in post-harvest crops such as tomato fruits and, indeed, fresh cut basil, by manipulation of the red:far red ratio of light provided to plants throughout the photoperiod and for a significant duration of the growing process in controlled environment chambers. We tested the effectiveness of periodic short-duration end-of-production supplementary far red light treatments designed for use with basil plants grown in a large scale commercial glasshouse for the live potted basil market. Four days of periodic, midday supplementary far red light given at end of production induced robust tolerance to 24 h of 4 °C cold treatment, resulting in greatly reduced visual damage, and reduced physiological markers of chilling injury including electrolyte leakage and reactive oxygen species accumulation. Antioxidant levels were also maintained at higher levels in live potted basil following this cold treatment. RNAseq-based analysis of gene expression changes associated with this response pointed to increased conversion of starch to soluble raffinose family oligosaccharide sugars; increased biosynthesis of anthocyanins and selected amino acids; inactivation of gibberellin signaling; and reduced expression of fatty acid desaturases, all previously associated with increased chilling tolerance in plants. Our findings offer an efficient, non-invasive approach to induce chilling tolerance in potted basil which is suitable for application in a large-scale commercial glasshouse.
On truth and polarity in negation processing: language-specific effects in non-linguistic contexts
Authors: Vanek Norbert , Zhang Haoruo
Published: August 2023

Introduction

This study examines how negation is processed in a nonverbal context (e.g., when assessing ▲ ≠ ▲) by speakers of a truth-based system like Mandarin and a polarity-based system like English. In a truth-based system, negation may take longer to process because it is typically attached to the negation as a whole (it is not true that triangle does not equal triangle), whereas in polarity-based systems, negation is processed relatively faster because it is attached to just the equation symbol (triangle does not equal triangle), which is processed relatively faster. Our hypothesis was that negation processing routines previously observed for verbal contexts, namely that speakers of Mandarin get slowed down more when processing negative stimuli than positive stimuli compared to speakers of English, also extend to contexts when language use is not obligatory.

Methods

To test this, we asked participants to agree/disagree with equations comprising simple shapes and positive ‘=’ or negative ‘≠’ equation symbols. English speakers showed a response-time advantage over Mandarin speakers in negation conditions. In a separate experiment, we also tested the contribution of equation symbols ‘≠’/‘=’ to the cognitive demands by asking participants to judge shape sameness in symbol-free trials, such as ▲ ■. This comparison allowed us to test whether crosslinguistic differences arise not because of shape congruence judgement but arguably due to negation attachment.

Results and discussion

The effect of the ‘≠’ symbol on shape congruence was language-specific, speeding up English speakers but slowing down Mandarin speakers when the two shapes differed. These findings suggest language-specific processing of negation in negative equations, interpreted as novel support for linguistic relativity.
Independent component analysis: a reliable alternative to general linear model for task-based fMRI
Authors: Gkiatis Kostakis , Garganis Kyriakos , Karanasiou Irene , Chatzisotiriou Athanasios , Zountsas Basilios , Kondylidis Nikolaos , Matsopoulos George K.
Published: August 2023

Background

Functional magnetic resonance imaging (fMRI) is a valuable tool for the presurgical evaluation of patients undergoing neurosurgeries. Although many pre-processing steps have been modified according to advances in recent years, statistical analysis has remained largely the same since the first days of fMRI. In this study, we examined the ability of Independent Component Analysis (ICA) to separate the activation of a language task in fMRI, and we compared it with the results of the General Lineal Model (GLM).

Methods

Sixty patients undergoing evaluation for brain surgery due to various brain lesions and/or epilepsy and 20 control subjects completed an fMRI language mapping protocol that included three tasks, resulting in 259 fMRI scans. Depending on brain lesion characteristics, patients were allocated to (1) static/chronic not-expanding lesions (Group 1) and (2) progressive/expanding lesions (Group 2). GLM and ICA statistical maps were evaluated by fMRI experts to assess the performance of each technique.

Results

In the control group, ICA and GLM maps were similar without any superiority of either technique. In Group 1 and Group 2, ICA performed statistically better than GLM, with a p-value of < 0.01801 and < 0.0237, respectively. This indicated that ICA performs as well as GLM when the subjects are able to cooperate well (less movement, good task performance), but ICA could outperform GLM in the patient groups. When both techniques were combined, 240 out of 259 scans produced reliable results, showing that the sensitivity of task-based fMRI can be increased when both techniques are integrated with the clinical setup.

Conclusion

ICA may be slightly more advantageous, compared to GLM, in patients with brain lesions, across the range of pathologies included in our population and independent of symptoms chronicity. Our findings suggest that GLM analysis may be more susceptible to brain activity perturbations induced by a variety of lesions or scanner-induced artifacts due to motion or other factors. In our research, we demonstrated that ICA is able to provide fMRI results that can be used in surgery, taking into account patient and task-wise aspects that differ from those when fMRI is used in research.
The Commit to Be Fit framework: a community case study of a multi-level, holistic school-based wellness initiative in rural Virginia
Authors: Redelfs Alisha H. , Smith Madeleine , Merrill Jacinda A. , Grimsley Shannon , Jenkins Hollyann E. , Tederick Jacqueline S. , Butler Amanda G. , Dueck Kirsten , Eastham Thomas Margy , Perez David A. , Whigham Leah D.
Published: August 2023

Background

Public health interventions that target children's physical, mental, and emotional health will enhance their ability to learn and grow. Although more complex, school initiatives that address multiple ecological levels and take a holistic view may be more effective and likely to lead to lasting change.

Aims

This article presents the framework of Commit to Be Fit (C2BF) as an example of how schools can integrate multi-level and holistic approaches for health. This innovative school-based intervention includes activities addressing individual, home, school, and community to create a culture of wellness. We describe the implementation of C2BF and its basis in ecological models and give examples of activities across three components: cafeteria, classroom, and community. We discuss challenges and note that leadership engagement and alignment were critical elements for C2BF's success thus far.

Discussion

C2BF uses a school-based multi-level approach to creating a culture of wellness and holistic health for students, teachers, and community members. C2BF is unique compared to other school-based programming and includes activities that address all eight domains posited for program sustainability within public health. Built to be flexible and adaptive, C2BF was able to successfully pivot during the COVID pandemic and also follow new science.

Conclusion

C2BF and other multi-level holistic approaches are more likely to achieve long-term change by utilizing strategies across the multiple levels of the ecological model to improve health and wellbeing.