bluuebunny/crossref_metadata_2025 huggingface dataset:
Diarrheal-associated gut dysbiosis in cancer and inflammatory bowel disease patients is exacerbated by Clostridioides difficile infection
Authors: Kulecka Maria , Zeber-Lubecka Natalia , Bałabas Aneta , Czarnowski Paweł , Bagińska Katarzyna , Głowienka Maria , Kluska Anna , Piątkowska Magdalena , Dąbrowska Michalina , Waker Edyta , Mikula Michał , Ostrowski Jerzy
Published: July 2023

Introduction

Low diversity gut dysbiosis can take different forms depending on the disease context. In this study, we used shotgun metagenomic sequencing and gas chromatography–mass spectrometry (GC-MS) to compared the metagenomic and metabolomic profiles of Clostridioides (Clostridium) difficile diarrheal cancer and inflammatory bowel disease (IBD) patients and defined the additive effect of C. difficile infection (CDI) on intestinal dysbiosis.

Results

The study cohort consisted of 138 case-mix cancer patients, 43 IBD patients, and 45 healthy control individuals. Thirty-three patients were also infected with C. difficile. In the control group, three well-known enterotypes were identified, while the other groups presented with an additional Escherichia-driven enterotype. Bacterial diversity was significantly lower in all groups than in healthy controls, while the highest level of bacterial species richness was observed in cancer patients. Fifty-six bacterial species had abundance levels that differentiated diarrheal patient groups from the control group. Of these species, 52 and 4 (Bacteroides fragilis, Escherichia coli, Klebsiella pneumoniae, and Ruminococcus gnavus) were under-represented and over-represented, respectively, in all diarrheal patient groups. The relative abundances of propionate and butyrate were significantly lower in fecal samples from IBD and CDI patients than in control samples. Isobutyrate, propanate, and butyrate concentrations were lower in cancer, IBD, and CDI samples, respectively. Glycine and valine amino acids were over- represented in diarrheal patients.

Conclusion

Our data indicate that different external and internal factors drive comparable profiles of low diversity dysbiosis. While diarrheal-related low diversity dysbiosis may be a consequence of systemic cancer therapy, a similar phenotype is observed in cases of moderate to severe IBD, and in both cases, dysbiosis is exacerbated by incidence of CDI.
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients
Authors: Baban Anwar , Cicenia Marianna , Magliozzi Monia , Parlapiano Giovanni , Cirillo Marco , Pascolini Giulia , Fattori Fabiana , Gnazzo Maria , Bruno Pasqualina , De Luca Lorenzo , Di Chiara Luca , Francalanci Paola , Udd Bjarne , Secinaro Aurelio , Amodeo Antonio , Bertini Enrico Silvio , Savarese Marco , Drago Fabrizio , Novelli Antonio
Published: July 2023

Background

Monoallelic and biallelic TTN truncating variants (TTNtv) may be responsible for a wide spectrum of musculoskeletal and cardiac disorders with different age at onset. Although the prevalence of heterozygous TTNtv is relatively high in the general population, cardiac phenotyping (mainly cardiomyopathies, CMPs) in biallelic titinopathy has rarely been described in children.

Methods

We reviewed the medical records of pediatric patients with biallelic TTNtv and cardiac involvement. Clinical exome sequencing excluded pathogenic/likely pathogenic variants in major CMP genes.

Results

Five pediatric patients (four male) with biallelic TTNtv were included. Major arthrogryposis multiplex was observed in four patients; no patient showed intellectual disability. At a cardiac level, congenital heart defects (atrial and ventricular septal defects, n = 3) and left ventricular non-compaction (n = 1) were reported. All patients had dilated cardiomyopathy (DCM) diagnosed at birth in one patient and at the age of 10, 13, 14, and 17 years in the other four patients. Heart rhythm monitoring showed tachyarrhythmias (premature ventricular contractions, n = 2; non-sustained ventricular tachycardia, n = 2) and nocturnal first-degree atrio-ventricular block (n = 2). Cardiac magnetic resonance (CMR) imaging was performed in all patients and revealed a peculiar late gadolinium enhancement distribution in three patients. HyperCKemia was present in two patients and end-stage heart failure in four. End-organ damage requiring heart transplantation (HT) was indicated in two patients, who were operated on successfully.

Conclusion

Biallelic TTNtv should be considered when evaluating children with severe and early-onset DCM, particularly if skeletal and muscular abnormalities are present, e.g., arthrogryposis multiplex and congenital progressive myopathy. End-stage heart failure is common and may require HT.
Application of enhanced methods of gravity data analysis for mapping the subsurface structure of the bahira basin in Morocco
Authors: Lghoul Meriem , Abd-Elhamid Hany F. , Zeleňáková Martina , Abdelrahman Kamal , Fnais Mohammed S. , Sbihi Karim
Published: July 2023

Gravity-based imaging of the subsurface has increased worldwide recently. Improvements in the processing and analysis of gravity data have allowed us to locate the basement surface, map geologic basins, and define structural patterns. In this study, gravity data were analyzed to study the Bahira basin’s underlying geology. The Bahira basin is very important economically. The Ganntour plateau is distinctive due to the importance of the phosphate mining resources. Using gravity data, we mapped the subsurface and determined the underlying structural patterns that affect the study area. In this study, we used several techniques to edge detection including Total horizontal derivative (THDR), first vertical derivative (FVD), tilt derivative (TDR), and its horizontal derivative (THDR_TDR) methods. Accordingly, the geological history of the Bahira basin suggests that the main lineaments/faults trends are NE-SW, NW-SE, ENE-WSW, and WNW-ESE. The 3D Euler deconvolution showed the depth and location of lineaments/faults, and matched edge detection results. The eastern Bahira basin’s sedimentary layer is 2–8 km deeper according to the Euler technique. Two-dimensional forward modeling along three profiles in the Bahira basin revealed a horst-graben basement structure. The outcomes of this study improved the subsurface topographical variations of the Bahira Basin. The information collected so far can help future studies in the area.
Fibroblast growth factor 21 in metabolic syndrome
Authors: Yang Ming , Liu Chongbin , Jiang Na , Liu Yan , Luo Shilu , Li Chenrui , Zhao Hao , Han Yachun , Chen Wei , Li Li , Xiao Li , Sun Lin
Published: July 2023

Metabolic syndrome is a complex metabolic disorder that often clinically manifests as obesity, insulin resistance/diabetes, hyperlipidemia, and hypertension. With the development of social and economic systems, the incidence of metabolic syndrome is increasing, bringing a heavy medical burden. However, there is still a lack of effective prevention and treatment strategies. Fibroblast growth factor 21 (FGF21) is a member of the human FGF superfamily and is a key protein involved in the maintenance of metabolic homeostasis, including reducing fat mass and lowering hyperglycemia, insulin resistance and dyslipidemia. Here, we review the current regulatory mechanisms of FGF21, summarize its role in obesity, diabetes, hyperlipidemia, and hypertension, and discuss the possibility of FGF21 as a potential target for the treatment of metabolic syndrome.
Tropical insectivorous birds’ predation patterns that promote forest–farmland trophic connectivity for integrated top–down pest biocontrol
Authors: Otieno Nickson Erick , Mukasi Jonathan
Published: July 2023

Although conversion of natural forest to agriculture can negatively impact biodiversity in many ways, some affected species may respond by dispersing across the forest–farmland eco-zone, thereby facilitating functional connections through food-web interactions beneficial to crop production and forestry. This study examined patterns of Lepidoptera (butterflies and moths), Hemiptera (bugs), and Coleoptera (beetles) herbivory, and insectivorous bird predation within forest-adjacent farms in western Kenya, and how these processes trophically connect the two ecosystems to promote pest biocontrol. Through δ13C and δ15N stable isotope analyses, proportions of maize, farmland legumes and forest trees in pest diets, and pest-prey in bird’s diets were estimated. Birds’ habitat associations and diet specializations’ influence on pest consumption and basal plant carbon levels in birds’ tissues were determined to evaluate birds’ pest-biocontrol potential. Maize was the mostly consumed plant especially by Lepidoptera, but forest trees were peimarily consumed by Coleoptera and Hemiptera. In turn, Lepidoptera were mainly consumed by forest-associated birds, whereas Hemiptera and Coleoptera were mostly consumed by farmland-associated birds. Thus, birds showed cross-habitat pest consumption tendencies, though diet-specialization was unimportant in predicting those tendencies. Muscicapidae (flycatchers and allies); Hirundinidae (swifts and swallows); Motacillidae (pipits and wagtails); and Ploceidae (weavers) birds showed the highest contributory potential for pest biocontrol of Lepidoptera pests, but Estrildidae (manikins and waxbills), Muscicapidae, and Malaconotidae (boubous and gonoleks) birds showed the best potential against Hemiptera and Coleoptera. Furthermore, more maize basal carbon was assimilated by forest-associated compared to farmland-associated birds, whereas most basal carbon from farmland legumes and forest trees were assimilated by farmland birds, suggesting that unlike pest-prey choice, basal plant carbon pathways to avian insectivorous consumers did not strongly mirror birds’ habitat associations. Lepidoptera and Hemiptera were potentially the most significant interhabitat trophic connector arthropods, and for birds, Muscicapidae, Ploceidae, and Estrildidae. These findings show that such functional connectivity may be enhanced through increasing structural cover elements that promote insectivorous birds’ dispersal between farmland and adjacent forests to boost their pest-regulation ecosystem service contribution. The results serve to inform effective management practices by agronomists, foresters, and land-use planners toward promoting landscape-scale-integrated pest management for sustainable agriculture and biodiversity conservation.
Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
Authors: Kizhakkedath Praseetha , AlDhaheri Watfa , Baydoun Ibrahim , Tabouni Mohammed , John Anne , Almansoori Taleb M. , Al-Turki Saeed , Al-Jasmi Fatma , Alblooshi Hiba
Published: July 2023

Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encodes a putative mitochondrial zinc transporter with ubiquitous expression, the highest found in the brain, kidney, and skeletal muscle. Since the first report, only one additional affected patient has been described, but there were some inconsistencies, such as hearing loss, failure to thrive, and neuroimaging findings between the clinical presentation of the disease in the Bedouin family and the second patient. Here, we present two more patients from a consanguineous Middle Eastern family with features of chronic kidney disease, neurodevelopmental regression, ataxia, hearing loss, and eye abnormalities, which were largely consistent with BILAPES. Whole-exome sequencing detected a homozygous in-frame deletion c.1049_1051delCAG (p.Ala350del) in the SLC30A9 gene, which was the same variant detected in the patients from the primary literature report and the variant segregated with disease in the family. However, in the patients described here, brain MRI showed cerebellar atrophy, which was not a cardinal feature of the syndrome from the primary report. Our findings provide further evidence for SLC30A9-associated BILAPES and contribute to defining the clinical spectrum.
SMARThealth PRegnancy And Mental Health study: protocol for a situational analysis of perinatal mental health in women living in rural India
Authors: Votruba Nicole , Praveen Devarsetty , Mellers Lucy , Rajan Eldho , Thout Sudhir Raj , Arora Varun , Malik Yogender , Kashyap Aditya , Majumdar Sreya , Hirst Jane , Maulik Pallab K.
Published: July 2023

Introduction

The situation for women experiencing mental health problems during pregnancy and postpartum in rural India is critical: a high burden of disease, a high estimated number of women are undiagnosed and untreated with mental health problems, a substantial gap in research on women's perinatal health, and severe stigma and discrimination. The SMARThealth Pregnancy study is a cluster randomised trial using a digital intervention to identify and manage anaemia, hypertension, and diabetes in the first year after birth in rural India. Within this study, the SMARThealth Pregnancy and Mental Health (PRAMH) study is a situational analysis to understand mental health problems during pregnancy and in the first year following birth in this population.

Methods/design

This situational analysis aims to analyse and to assess the context of perinatal mental health, health services, barriers, facilitators, and gaps in Siddipet district of Telangana state in India, to develop an implementation framework for a future intervention. A tested, standardised situational analysis tool will be adapted and applied to perinatal mental health in rural India. A desktop and policy review will be conducted to identify and analyse relevant mental health and pregnancy care policies at the national and state levels. We will conduct in-depth interviews with policymakers, planners, mental health professionals and other experts in perinatal mental health (n = 10–15). We will also conduct focus group discussions with key stakeholders, including women with perinatal mental health problems, their families and carers, and community health workers (n = 24–40). A theory of change workshop with key stakeholders will be conducted which will also serve as a priority setting exercise, and will clarify challenges and opportunities, priorities, and objectives for a pilot intervention study. The analysis of qualitive data will be done using thematic analysis. Based on the data analysis and synthesis of the findings, an implementation framework will be developed to guide development, testing and scale up of a contextually relevant intervention for perinatal mental health.

Discussion

The situational analysis will help to establish relationships with all relevant stakeholders, clarify the context and hypotheses for the pilot intervention and implementation.
FcγR requirements and costimulatory capacity of Urelumab, Utomilumab, and Varlilumab
Authors: Leitner Judith , Egerer Ricarda , Waidhofer-Söllner Petra , Grabmeier-Pfistershammer Katharina , Steinberger Peter
Published: July 2023

Introduction

Targeting costimulatory receptors of the tumor necrosis factor receptor (TNFR) superfamily with agonistic antibodies is a promising approach in cancer immuno therapy. It is known that their efficacy strongly depends on FcγR cross-linking.

Methods

In this study, we made use of a Jurkat-based reporter platform to analyze the influence of individual FcγRs on the costimulatory activity of the 41BB agonists, Urelumab and Utomilumab, and the CD27 agonist, Varlilumab.

Results

We found that Urelumab (IgG4) can activate 41BB-NFκB signaling without FcγR cross-linking, but the presence of the FcγRs (CD32A, CD32B, CD64) augments the agonistic activity of Urelumab. The human IgG2 antibody Utomilumab exerts agonistic function only when crosslinked via CD32A and CD32B. The human IgG1 antibody Varlilumab showed strong agonistic activity with all FcγRs tested. In addition, we analyzed the costimulatory effects of Urelumab, Utomilumab, and Varlilumab in primary human peripheral blood mononuclear cells (PBMCs). Interestingly, we observed a very weak capacity of Varlilumab to enhance cytokine production and proliferation of CD4 and CD8 T cells. In the presence of Varlilumab the percentage of annexin V positive T cells was increased, indicating that this antibody mediated FcγR-dependent cytotoxic effects.

Conclusion

Collectively, our data underscore the importance to perform studies in reductionist systems as well as in primary PBMC samples to get a comprehensive understanding of the activity of costimulation agonists.
Resveratrol induces apoptosis by modulating the reciprocal crosstalk between p53 and Sirt-1 in the CRC tumor microenvironment
Authors: Brockmueller Aranka , Buhrmann Constanze , Shayan Parviz , Shakibaei Mehdi
Published: July 2023

Introduction

P53 represents a key player in apoptosis-induction in cancers including colorectal cancer (CRC) that ranks third worldwide in cancer prevalence as well as mortality statistics. Although a pro-apoptotic effect of resveratrol has been repeatedly proven in CRC cells, its pathway mechanisms are not completely understood, as there are controversial statements in the literature regarding its activation or inhibition of the counteracting proteins Sirt-1 and p53.

Methods

CRC cells as wild-type (HCT-116 WT) or p53-deficient (HCT-116 p53-/-) were cultured using multicellular tumor microenvironment (TME) cultures containing T-lymphocytes and fibroblasts to elucidate the role of p53/Sirt-1 modulation in resveratrol’s concentration-dependent, pro-apoptotic, and thus anti-cancer effects.

Results

Resveratrol dose-dependently inhibited viability, proliferation, plasticity as well as migration, and induced apoptosis in HCT-116 WT more effectively than in HCT-116 p53-/- cells. Moreover, resveratrol stimulated Sirt-1 expression when administered at low concentrations (<5µM) but suppressed it when added at high concentrations (>10µM) to CRC-TME. In parallel, similar to the knockdown of Sirt-1 at the mRNA level, treatment with high-concentration resveratrol boosted the acetylation of p53, the expression of p21, Bax, cytochrome C, caspase-3, and ultimately induced apoptosis in CRC WT but not in CRC p53-/- cells. Notably, increasing concentrations of resveratrol were found to promote hyperacetylation of p53 and FOXO3a as post-translational substrates of Sirt-1, indicating a negative regulatory loop between Sirt-1 and p53.

Discussion

These results demonstrate for the first time, a negative reciprocal crosstalk between the regulatory circuits of p53 and Sirt-1, consequently, apoptosis induction by higher resveratrol concentrations in CRC-TME.
Tumor microenvironment responsive metal nanoparticles in cancer immunotherapy
Authors: Yang Rou , Chen Lu , Wang Yiling , Zhang Lijuan , Zheng Xi , Yang Yong , Zhu Yuxuan
Published: July 2023

Malignant tumors have a unique tumor microenvironment (TME), which includes mild acidity, hypoxia, overexpressed reactive oxygen species (ROS), and high glutathione (GSH) levels, among others. Recently, TME regulation approaches have attracted widespread attention in cancer immunotherapy. Nanoparticles as drug delivery systems have ability to modulate the hydrophilicity of drugs to affect drug uptake and efflux in tumor. Especially, the metal nanoparticles have been extensive applied for tumor immunotherapy due to their unique physical properties and elaborate design. However, the potential deficiencies of metal nanoparticles due to their low biodegradability, toxicity and treatment side effects restrict their clinical application. In this review, we briefly introduce the feature characteristics of the TME and the recent advances in tumor microenvironment responsive metal nanoparticles for tumor immunotherapy. In addition, nanoparticles could be combined with other treatments, such as chemotherapy, radiotherapy and photodynamic therapy also is presented. Finally, the challenges and outlook for improving the antitumor immunotherapy efficiency, side effect and potential risks of metal nanoparticles has been discussed.
Using computer vision to identify limpets from their shells: a case study using four species from the Baja California peninsula
Authors: Hollister Jack D. , Cai Xiaohao , Horton Tammy , Price Benjamin W. , Zarzyczny Karolina M. , Fenberg Phillip B.
Published: July 2023

The shell morphology of limpets can be cryptic and highly variable, within and between species. Therefore, the visual identification of species can be troublesome even for experts. Here, we demonstrate the capability of computer vision models as a new method to assist with identifications. We investigate the ability of computers to distinguish between four species and two genera of limpets from the Baja California peninsula (Mexico) from digital images of shells from both dorsal and ventral orientations. Overall, the models performed marginally better (97.9%) than experts (97.5%) when predicting the same set of images and did so 240x faster. Moreover, we utilised a heatmap system to both verify that models are focussing on the specimens and to view which features on the specimens the models used to distinguish between species and genera. We then enlisted the expertise of limpet ecologists specialised in identification of species from the Baja peninsula to comment on whether the heatmaps are indeed focusing on specific morphological features per species/genus. They confirm that in their opinion, the majority of the heatmaps appear to be highlighting areas and features of morphological importance for distinguishing between groups. Our findings reveal that the cutting-edge technology of computer vision holds tremendous potential in enhancing species identification techniques used by taxonomists and ecologists. Not only does it provide a complementary approach to traditional methods, but it also opens new avenues for exploring the biology and ecology of limpets in greater detail.
The role of gut microbiome in the complex relationship between respiratory tract infection and asthma
Authors: Zhao Xiaoman , Hu Mingge , Zhou Huan , Yang Yan , Shen Shiping , You Yannan , Xue Zheng
Published: July 2023

Asthma is one of the common chronic respiratory diseases in children, which poses a serious threat to children's quality of life. Respiratory infection is a risk factor for asthma. Compared with healthy children, children with early respiratory infections have a higher risk of asthma and an increased chance of developing severe asthma. Many clinical studies have confirmed the correlation between respiratory infections and the pathogenesis of asthma, but the underlying mechanism is still unclear. The gut microbiome is an important part of maintaining the body's immune homeostasis. The imbalance of the gut microbiome can affect the lung immune function, and then affect lung health and cause respiratory diseases. A large number of evidence supports that there is a bidirectional regulation between intestinal flora and respiratory tract infection, and both are significantly related to the development of asthma. The changes of intestinal microbial components and their metabolites in respiratory tract infection may affect the occurrence and development of asthma through the immune pathway. By summarizing the latest advancements in research, this review aims to elucidate the intricate connection between respiratory tract infections and the progression of asthma by highlighting its bridging role of the gut microbiome. Furthermore, it offers novel perspectives and ideas for future investigations into the mechanisms that underlie the relationship between respiratory tract infections and asthma.
The dendritic engram
Authors: Kastellakis George , Tasciotti Simone , Pandi Ioanna , Poirazi Panayiota
Published: July 2023

Accumulating evidence from a wide range of studies, including behavioral, cellular, molecular and computational findings, support a key role of dendrites in the encoding and recall of new memories. Dendrites can integrate synaptic inputs in non-linear ways, provide the substrate for local protein synthesis and facilitate the orchestration of signaling pathways that regulate local synaptic plasticity. These capabilities allow them to act as a second layer of computation within the neuron and serve as the fundamental unit of plasticity. As such, dendrites are integral parts of the memory engram, namely the physical representation of memories in the brain and are increasingly studied during learning tasks. Here, we review experimental and computational studies that support a novel, dendritic view of the memory engram that is centered on non-linear dendritic branches as elementary memory units. We highlight the potential implications of dendritic engrams for the learning and memory field and discuss future research directions.
Hyperscanning fNIRS data analysis using multiregression dynamic models: an illustration in a violin duo
Authors: do Nascimento Diego Carvalho , Santos da Silva José Roberto , Ara Anderson , Sato João Ricardo , Costa Lilia
Published: July 2023

Introduction

Interpersonal neural synchronization (INS) demands a greater understanding of a brain's influence on others. Therefore, brain synchronization is an even more complex system than intrasubject brain connectivity and must be investigated. There is a need to develop novel methods for statistical inference in this context.

Methods

In this study, motivated by the analysis of fNIRS hyperscanning data, which measure the activity of multiple brains simultaneously, we propose a two-step network estimation: Tabu search local method and global maximization in the selected subgroup [partial conditional directed acyclic graph (DAG) + multiregression dynamic model]. We illustrate this approach in a dataset of two individuals who are playing the violin together.

Results

This study contributes new tools to the social neuroscience field, which may provide new perspectives about intersubject interactions. Our proposed approach estimates the best probabilistic network representation, in addition to providing access to the time-varying parameters, which may be helpful in understanding the brain-to-brain association of these two players.

Discussion

The illustration of the violin duo highlights the time-evolving changes in the brain activation of an individual influencing the other one through a data-driven analysis. We confirmed that one player was leading the other given the ROI causal relation toward the other player.
Increased posterior cingulate cortex blood flow in cancer-related fatigue
Authors: Raizen David , Bhavsar Rupal , Keenan Brendan T. , Liu Patrick Z. , Kegelman Timothy P. , Chao Hann-Hsiang , Vapiwala Neha , Rao Hengyi
Published: July 2023

Fatigue is a common symptom associated with cancer treatments. Brain mechanisms underlying cancer-related fatigue (CRF) and its progression following therapy are poorly understood. Previous studies have suggested a role of the default mode network (DMN) in fatigue. In this study we used arterial spin labeling (ASL) perfusion functional magnetic resonance imaging (fMRI) and compared resting cerebral blood flow (CBF) differences in the posterior cingulate cortex (PCC), a core hub of the DMN, between 16 patients treated with radiation therapy (RAT) for prostate (9 males) or breast (7 females) cancer and 18 healthy controls (HC). Resting CBF in patients was also measured immediately after the performance of a fatiguing 20-min psychomotor vigilance task (PVT). Twelve of 16 cancer patients were further followed between 3 and 7 months after completion of the RAT (post-RAT). Patients reported elevated fatigue on RAT in comparison to post-RAT, but no change in sleepiness, suggesting that the underlying neural mechanisms of CRF progression are distinct from those regulating sleep drive progression. Compared to HC, patients showed significantly increased resting CBF in the PCC and the elevated PCC CBF persisted during the follow up visit. Post-PVT, but not pre-PVT, resting CBF changes in the PCC correlated with fatigue changes after therapy in patients with CRF, suggesting that PCC CBF following a fatiguing cognitive task may be a biomarker for CRF recovery.
Case report: MELAS and T3271C mitochondrial mutation in an adult woman
Authors: Chen Dong-hua , Li Wei , Jiang Hai-shan , Yuan Chao
Published: July 2023

Introduction

Patients with mitochondrial disorders always show neurological deficits. However, the diversity of clinical manifestations, genetic heterogeneity and threshold effect caused by maternal heredity make its diagnosis very challenging.

Case presentation

A 30-year-old female presented to our neurology department with a recurrence of symmetrical weakness proximally in the lower extremities. Seven years ago, the patient had a sudden onset of persistent weakness in bilateral proximal lower extremities, along with elevated creatinine kinase (CK) and CK-MB. Given the diagnosis of Guillain-Barre syndrome, she was treated with high-dose glucocorticoid (GC) therapy at the local hospital and recovered. After admission to our hospital, laboratory analysis revealed elevated CK and alpha-hydroxybutyrate dehydrogenase in serum. Electrocardiography showed sinus tachycardia and left high ventricular voltage. Electromyography (EMG) and evoked potential (EP) suggested peripheral neurogenic damage of the upper and lower extremities with myogenic wear. Chronic inflammatory demyelinating polyneuropathy (CIDP) was initially considered, but neurological symptoms were not significantly improved with glucocorticoid shock therapy. An elevated level of lactate was found. The short-tau inversion recovery (STIR) axial magnetic resonance image (MRI) revealed mild hyperintensities, indicating muscle edema. Meanwhile, muscle biopsies suggested pathological changes in mitochondrial disorders (MIDs) and neuronal damage. Further mitochondrial genome analysis revealed a heteroplasmic m3271 T>C mutation in the mitochondrial tRNA-Leu gene (UUR). Collectively, the patient was finally diagnosed with mitochondrial disorder and apparently improved after the corresponding treatment to regulate energy metabolism.

Conclusions

To our knowledge, it's the first report about MELAS with 3271 mutation that have only shown peripheral nerve motion impairment. Proximal weakness is also common in CIDP. In the context of this patient's experience, mitochondrial genome analysis provides an auxiliary criterion for differential diagnosis between MIDs and CIDP. In the meantime, we discussed the clinical effect of GCs on MIDs.
A case of pure apraxia of speech after left hemisphere stroke: behavioral findings and neural correlates
Authors: Pracar Alexis L. , Ivanova Maria V. , Richardson Amber , Dronkers Nina F.
Published: July 2023

Introduction

Apraxia of speech (AOS) is a motor speech disorder impairing the coordination of complex articulatory movements needed to produce speech. AOS typically co-occurs with a non-fluent aphasia, or language disorder, making it challenging to determine the specific brain structures that cause AOS. Cases of pure AOS without aphasia are rare but offer the best window into the neural correlates that support articulatory planning. The goal of the current study was to explore patterns of apraxic speech errors and their underlying neural correlates in a case of pure AOS.

Methods

A 67-year-old right-handed man presented with severe AOS resulting from a fronto-insular lesion caused by an ischemic stroke. The participant’s speech and language were evaluated at 1-, 3- and 12-months post-onset. High resolution structural MRI, including diffusion weighted imaging, was acquired at 12 months post-onset.

Results

At the first assessment, the participant made minor errors on the Comprehensive Aphasia Test, demonstrating mild deficits in writing, auditory comprehension, and repetition. By the second assessment, he no longer had aphasia. On the Motor Speech Evaluation, the severity of his AOS was initially rated as 5 (out of 7) and improved to a score of 4 by the second visit, likely due to training by his SLP at the time to slow his speech. Structural MRI data showed a fronto-insular lesion encompassing the superior precentral gyrus of the insula and portions of the inferior and middle frontal gyri and precentral gyrus. Tractography derived from diffusion MRI showed partial damage to the frontal aslant tract and arcuate fasciculus along the white matter projections to the insula.

Discussion

This pure case of severe AOS without aphasia affords a unique window into the behavioral and neural mechanisms of this motor speech disorder. The current findings support previous observations that AOS and aphasia are dissociable and confirm a role for the precentral gyrus of the insula and BA44, as well as underlying white matter in supporting the coordination of complex articulatory movements. Additionally, other regions including the precentral gyrus, Broca’s area, and Area 55b are discussed regarding their potential role in successful speech production.
An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus
Authors: Li Ling , Yuan Lamei , Zheng Wen , Yang Yan , Deng Xiong , Song Zhi , Deng Hao
Published: July 2023

Genetic epilepsy with febrile seizures plus (GEFSP) is a familial epileptic syndrome that is genetically heterogeneous and inherited in an autosomal dominant form in most cases. To date, at least seven genes have been reported to associate with GEFSP. This study aimed to identify the disease-causing variant in a Chinese Tujia ethnic family with GEFSP by using whole exome sequencing, Sanger sequencing, and in silico prediction. A heterozygous missense variant c.5725A>G (p.T1909A) was identified in the sodium voltage-gated channel alpha subunit 1 gene (SCN1A) coding region. The variant co-segregated with the GEFSP phenotype in this family, and it was predicted as disease-causing by multiple in silico programs, which was proposed as the genetic cause of GEFSP, further genetically diagnosed as GEFSP2. These findings expand the genetic and phenotypic spectrum of GEFSP and should contribute to genetic diagnoses, personalized therapies, and prognoses.
Regional homogeneity alterations of resting-state functional magnetic resonance imaging of chronic rhinosinusitis with olfactory dysfunction
Authors: Zhang Zhiqiang , Wu Ying , Luo Qing , Tu Junhao , Li Jiahao , Xiong Jiaxin , Lv Huiting , Ye Jing
Published: July 2023

Objectives

The aim of this study was to assess the brain functional changes of patients with chronic rhinosinusitis with olfactory dysfunction (CRSwOD) using regional homogeneity (ReHo) of resting-state functional magnetic resonance imaging (MRI) scans, and to better explain the occurrence and development of olfactory decline in patients with chronic sinusitis provides a new idea for the study of more advanced olfactory therapy modalities.

Methods

A total of 28 CRSwOD patients, 24 patients with CRS without olfactory dysfunction (CRSsOD), and 25 healthy controls (HCs) were recruited. All subjects underwent olfactory testing, clinical and brief psychological assessments, and MRI scans. A two-sided two-sample t test with AlphaSim correction (voxel-p < 0.001, cluster size >54 voxels) was used to detect differences between CRSwOD, CRSsOD, and HC groups.

Results

Compared with HCs, the ReHo values in traditional olfactory regions (e.g., parahippocampal gyrus (PHG), hippocampal, olfactory cortex) were increased, and ReHo values in the frontal gyrus, middle temporal gyrus, precuneus, and posterior cingulate gyrus were decreased in CRSwOD patients. The ReHo values in the precuneus and posterior cingulate gyrus of CRSwOD patients were negatively correlated with Questionnaire of Olfactory Disorders-Negative Statements (QOD-NS) scores. Compared with CRSsOD patients, the ReHo values in cerebellar regions were increased and those in the inferior temporal gyrus, precuneus, postcentral, and paracentral gyrus were decreased in CRSwOD patients. The receiver operating characteristic (ROC) curve showed that the mean ReHo values significantly differed between the CRSwOD and CRSsOD groups.

Conclusion

Synchronization of regional brain activity in the regions of the secondary olfactory cortex orbitofrontal cortex (OFC), temporal gyrus, precuneus, and cerebellum may be closely related to the development of olfactory dysfunction. Precuneus and posterior cingulate gyrus may be critical brain areas of action for emotional dysfunction in CRSwOD patients.
Associations between parenting strategies and BMI percentile among Latino children and youth with intellectual and developmental disabilities
Authors: Magaña Sandy , Errisuriz Vanessa L. , Yu Amy Pei-Lung , Heydaria Nazanin , Zeng Weiwen , Mirza Mansha , Vanegas Sandra , Brown Stephany , Parra-Medina Deborah , Suarez-Balcazar Yolanda
Published: July 2023

Introduction

Maintaining healthy weight is a challenge for all children, and particularly for children with IDD compared to nondisabled children and for Latino children compared to non-Latino White children. Parenting practices related to food intake and physical activity have been found to be important in maintaining children's weight. In this study, we describe the prevalence of overweight and obesity status among Latino children with IDD and their maternal caregivers and determine the relationship between food and physical activity parenting practices and childhood obesity among Latino children with IDD.

Methods

We interviewed 94 Latino parent/child dyads and collected information about parenting practices, home environment, and parent and child height and weight using standardized measures. Parent body mass index (BMI) and child BMI percentile were calculated from height and weight.

Results

The combined overweight/obesity status for children in our sample was high (60.3%) compared to national rates among nondisabled Latino children (56%) and non-Latino White children with autism (37%). Contrary to research on nondisabled children, we found that greater parental use of controlling dietary strategies was associated with lower BMI percentile in Latino children with IDD. These findings may be indicative of the fact that children with IDD tend to have unique dietary behaviors that warrant more disability and culturally sensitive strategies.

Discussion

Our findings suggest that overweight and obesity is especially prevalent for Latino children with IDD and that more research is needed on family factors that promote health in Latino families of children with IDD.
Qing Hua Chang Yin alleviates chronic colitis of mice by protecting intestinal barrier function and improving colonic microflora
Authors: Han Yuying , Liu Liya , Chen Youqin , Zheng Huifang , Yao Mengying , Cao Liujing , Sferra Thomas J. , Ke Xiao , Peng Jun , Shen Aling
Published: July 2023

Background: Qing Hua Chang Yin (QHCY) is a famous formula of traditional Chinese medicine (TCM) and has been proven to have protective effect on ulcerative colitis. However, its protective effect and potential therapeutic mechanisms in chronic colitis remain unclear. The purpose of this study is to explore the effects and underlying mechanisms of QHCY on dextran sulfate sodium (DSS)-induced chronic colitis mice model.

Methods: The chronic colitis model was established by administration of 2% DSS for three consecutive cycles of 7 days with two intervals of 14 days for recovery by drinking water. The experiment lasted 49 days. The DSS + QHCY group received QHCY administration by oral gavage at doses of 1.6 g/kg/d, DSS + Mesalazine group was administrated Mesalazine by oral gavage at doses of 0.2 g/kg/d. The control and DSS group were given equal volume of distilled water. The body weight, stool consistency and blood in stool were monitored every 2 days. The disease activity index (DAI) was calculated. The colon length was measured after the mice were sacrificed. The histomorphology of colonic tissues was checked by the HE and PAS staining. Immunohistochemistry was performed to detect the expressions of pro-inflammatory cytokines (TNF-α, IL-1β and IL-6), tight junction proteins (ZO-1, occludin) and Mucin2 (MUC2). 16S rRNA sequencing analysis was conducted to study the diversity and abundance of gut microbiota changes.

Results: QHCY treatment not only significantly attenuated DSS-induced the weight loss, DAI score increase, colon shortening and histological damage in mice, but also decreased the expression of pro-inflammatory cytokines in colonic tissues and increased the expression of ZO-1, occludin, and MUC2. Furthermore, QHCY enhanced the diversity of gut microbes and regulated the structure and composition of intestinal microflora in mice with chronic colitis.

Conclusion: QHCY has a therapeutic effect on a murine model of chronic colitis. It can effectively reduce the clinical and pathological manifestations of colitis and prevent alterations in the gut microbiota.
Dynamics of an unstirred chemostat model with Beddington–DeAngelis functional response
Authors: Zhang Wang , Nie Hua , Wang Zhiguo
Published: July 2023

This paper deals with an unstirred competitive chemostat model with the Beddington–DeAngelis functional response. With the help of the linear eigenvalue theory and the monotone dynamical system theory, we establish a relatively clear dynamic classification of this system in terms of the growth rates of two species. The results indicate that there exist several critical curves, which may classify the dynamics of this system into three scenarios: 1) extinction; 2) competitive exclusion; and 3) coexistence. Comparing with the classical chemostat model [26], our theoretical results reveal that under the weak–strong competition cases, the role of intraspecific competition can lead to species coexistence. Moreover, the simulations suggest that under different competitive cases, coexistence can occur for suitably small diffusion rates and some intermediate diffusion rates. These new phenomena indicate that the intraspecific competition and diffusion have a great influence on the dynamics of the unstirred chemostat model of two species competing with the Beddington–DeAngelis functional response.
Continuum modeling for lithium storage inside nanotubes
Authors: Alsaud Huda , Alshehri Mansoor H.
Published: July 2023

Lithium storage and capture are of particular importance for the development of new technology in electric vehicles and portable electronics. Nanotubes (NTs) are among many porous nanomaterials offered as potential candidates for lithium storage. In this paper, we adopt a continuum approach together with the Lennard–Jones function to determine the minimum interaction energies for lithium atoms in boron nitride nanotubes (BNNTs) and carbon nanotubes (CNTs). By minimizing the interaction energies, we may obtain the preferred type and size of the nanotubes to encapsulate the lithium atoms. The results showed that BNNTs and CNTs are attractive candidates for lithium atom encapsulation, and the optimal nanotube to enclose lithium is the BNNT with a radius equal to 3.4 Å, and corresponding (5, 5) armchair nanotubes and (9, 0) zigzag nanotubes, where the minimum energy is obtained. The present computations observed that both nanotubes are promising candidates for lithium intercalation materials suitable for battery applications.
Raising awareness on mental health in the heliophysics community
Authors: Nikoukar Romina , Regoli Leonardo , Halford Alexa J. , Zettergren Matthew D. , Dialynas Konstantinos , Filwett Rachael
Published: July 2023

To foster greater diversity, equity, and inclusion within the field of space sciences, it is crucial that we recognize and proactively address the mental health challenges experienced by our community. The purpose of this article is to raise awareness about mental health, assess the current state of our community in this regard, and explore ways to better safeguard and support our community members. We present a compelling argument for conducting surveys to evaluate the mental health and overall wellbeing of our community. Additionally, we offer several recommendations aimed to improve the mental health within our research community such as promoting honest conversations and programs on stress management and resilience building, training to notice and respond, and rethinking sick days. We recommend reevaluating our definition of success and reconsidering the existing strategies aimed at addressing the issues related to power imbalances. By promoting mental health awareness, fostering an open and supportive culture, and implementing policies that prioritize the wellbeing of all individuals, we can create an environment that is more inclusive and conducive to the thriving of every member.
Effect of micronutrient iron on bioactive compounds isolated from cryptophytes
Authors: Abidizadegan Maryam , Blomster Jaanika , Peltomaa Elina
Published: July 2023

Iron is one of the important micronutrients affecting algal growth due to its fundamental role in the physiological processes, including photosynthetic electron transport, respiration, and nitrogen fixation. In this study, the effect of different iron levels on growth and the production of bioactive compounds (phycoerythrin (PE), extracellular polymeric substances (EPS), and phenolic compounds (PCs)) of five cryptophyte strains were investigated. Also, the antioxidant capacity of the bioactive compounds was explored. The results showed species-specific responses to the impact of iron on growth of cryptophytes and accumulation of bioactive compounds. The growth rates of C. pyrenoidifera and Cryptomonas sp. varied significantly at different iron levels, and a reduction in the PE content was observed for several cryptophytes cultured at the highest iron level. However, no significant differences were detected in EPS content at different iron levels. Differences in PC contents of C. pyrenoidifera and Cryptomonas sp. at medium iron level were statistically significant compared with the other two treatments. The results also revealed species-specific differences in antioxidant activity at different iron levels; each studied strain followed its own pattern in response to change in iron level, and each bioactive compound had a different antioxidant activity. Overall, however, PCs demonstrated higher antioxidant activity than PE and EPS. In summary, iron has an impact on growth, bioactive compound accumulation, and antioxidant activity. However, the species-specific responses to changes in iron level should not be ignored when modifying culture conditions for optimal harvest of bioactive compounds.