bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: Bilateral sudden deafness in acute middle cerebellar peduncle infarction: central or peripheral?
Authors: Yuan Ziyun , Xiang Lei , Liu Ran , Yue Wei 
Published: May 2023

BackgroundThe middle cerebellar peduncle (MCP) is the most common site associated with hearing impairment in acute ischaemic stroke. Narrowing or occlusion of the vertebrobasilar artery due to atherosclerosis is thought to be the main pathogenesis of MCP infarction. Most previous reports of MCP infarction have not been clear whether the patient's hearing impairment is localized to the center or periphery.Case presentationWe report 44-year-old man with vertigo, tinnitus, and bilateral sudden sensorineural hearing loss (SSNHL) as the first symptoms. Pure Tone Audiogram revealed complete hearing loss in both ears. Acute bilateral MCP infarction was diagnosed by repeated brain magnetic resonance imaging (MRI). The brainstem auditory evoked potential (BAEP) and the electrocochleography were normal. The otoacoustic emissions showed binaural cochlear dysfunctions. After the antiplatelet, lipid-lowering, steroids and hyperbaric oxygen therapy, the pure-tone average (PTA) showed a clear improvement with 67 decibels (dB) on the right and 73 dB on the left at the 3-month follow-up.ConclusionVertebrobasilar diseases due to atherosclerosis should be routinely considered in middle-aged and elderly patients with vascular risk factors and bilateral hearing loss. Bilateral SSNHL can be a prodrome of acute MCP infarction and it can be peripheral. Brain MRI, brain magnetic resonance angiogram (MRA), brain and neck computed tomography angiography (CTA), BAEP, otoacoustic emissions, and Pure Tone Audiogram help to localize and qualify the diagnosis. Bilateral SSNHL localized to the periphery usually improves better and has a good prognosis. Early detection of hearing loss and intervention can help patients recover.
Policy analysis in the field of rare diseases in China: a combined study of content analysis and Bibliometrics analysis
Authors: Li Xiaotao , Wu Lan , Yu Lina , He Youqin , Wang Min , Mu Yan 
Published: May 2023

IntroductionThe Chinese government has made significant strides in addressing the needs of individuals affected by rare diseases in recent years. This paper aims to provide a comprehensive analysis of national rare disease policies in China from 2009 to 2022, using a mixed-methods approach.MethodsA two-dimensional analytical framework, which includes policy tools and policy themes, is introduced to analyze the rare disease policies comprehensively. Drawing on the policy tools theory proposed by Rothwell and Zegveld, this paper evaluates the tools used in rare disease policies. Co-word analyses and network analyses are employed to identify key themes in rare disease policies and collaboration among government departments.ResultsThe rare disease policy landscape in China is undergoing rapid growth, with an increasing number of government departments involved in policy formulation. However, further collaboration between departments is needed to strengthen these policies. Environment-based and supply-based tools are preferred in rare disease policies. The policy themes can be grouped into four categories: (1) Registration, Approval and Supply of Rare Disease Drugs, (2) Construction of Diagnosis and Treatment System for Rare Diseases, (3) Development and Genericization of Rare Disease Drugs, and (4) Social Security for Patients with Rare Diseases.DiscussionThe study provides valuable insights into the current state of rare disease policies in China and offers suggestions for policy improvement. The results show that the Chinese government has made efforts to address the needs of individuals affected by rare diseases, but there is still room for improvement. The collaboration between government departments needs to be strengthened to achieve better rare disease policies. The findings of this study have implications for other countries with similar healthcare systems and can contribute to a better understanding of the impact of rare disease policies on public health.
Mitochondrial genome diversity of Balamuthia mandrillaris revealed by a fatal case of granulomatous amoebic encephalitis
Authors: Law Cherie Tsz-Yiu , Nivesvivat Thirapa , Xiong Qing , Kulkeaw Kasem , Shi Ling , Ruenchit Pichet , Suwanpakdee Detchvijitr , Suwanpakdee Piradee , Tongkrajang Nongnat , Sarasombath Patsharaporn T. , Tsui Stephen Kwok-Wing 
Published: May 2023

IntroductionBalamuthia (B.) mandrillaris is a free-living amoeba that can cause rare yet fatal granulomatous amoebic encephalitis (GAE). However, efficacious treatment for GAE is currently unavailable, especially when genomic studies on B. mandrillaris are limited.MethodsIn this study, B. mandrillaris strain KM-20 was isolated from the brain tissue of a GAE patient, and its mitochondrial genome was de novo assembled using high-coverage Nanopore long reads and Illumina short reads.Results and DiscussionPhylogenetic and comparative analyses revealed a range of diversification in the mitochondrial genome of KM-20 and nine other B. mandrillaris strains. According to the mitochondrial genome alignment, one of the most variable regions was observed in the ribosomal protein S3 (rps3), which was caused by an array of novel protein tandem repeats. The repeating units in the rps3 protein tandem region present significant copy number variations (CNVs) among B. mandrillaris strains and suggest KM-20 as the most divergent strain for its highly variable sequence and highest copy number in rps3. Moreover, mitochondrial heteroplasmy was observed in strain V039, and two genotypes of rps3 are caused by the CNVs in the tandem repeats. Taken together, the copy number and sequence variations of the protein tandem repeats enable rps3 to be a perfect target for clinical genotyping assay for B. mandrillaris. The mitochondrial genome diversity of B. mandrillaris paves the way to investigate the phylogeny and diversification of pathogenic amoebae.
Using natricine snakes to test how prey type and size affect predatory behaviors and performance
Authors: Gripshover Noah D. , Jayne Bruce C. 
Published: May 2023

IntroductionPredation is a complex process for which behavior, morphology, and size of both predator and prey can affect the success and effectiveness of the predator. For predators such as snakes that swallow prey whole, gape ultimately limits prey size, but the behaviors used to select, capture, and consume prey and attributes of the prey can also affect maximal prey size. For example, swallowing live, struggling prey is difficult, but using coiling or envenomation to restrain or kill prey has evolved repeatedly in snakes.MethodsTo test the potential benefits of these behaviors, we manipulated the type and size of prey, and determined how stereotyped predatory behavior was in a snake species (Liodytes rigida) that uses both coiling and envenomation to restrain and immobilize its formidable prey of crayfish. We also studied a close relative (Liodytes pygaea) that eats fish and salamanders to gain insights into the evolution of these traits.ResultsFor L. rigida, envenomation of hard-shell crayfish via their soft underside was very stereotyped (100% of feedings). Envenomation of soft-shell crayfish was less frequent (59% of feedings) but became more likely both with increased relative prey size and increased time after molt (hardness). L. rigida coiled more for hard-shell than soft-shell crayfish (77% vs. 30%). The probability of coiling was unaffected by prey size, but it increased with increased time after molt for the soft-shell crayfish. Liodytes rigida waited to swallow crayfish until they were completely immobile in 75% and 37% of the feedings with hard- and soft-shelled crayfish, respectively. Even with large prey L. pygaea never used coiling or envenomation, whereas previous studies of L. alleni, the sister species of L. rigida, observed non-lethal coiling without envenomation when eating hard-shell crayfish.DiscussionOur findings for the Liodytes clade of three species suggest that coiling evolved ancestral to the crayfish specialists (L. alleni; L. rigida), and envenomation by L. rigida subsequently evolved as an additional means of subduing formidable prey. The proximate benefits observed for coiling and envenomation in L. rigida support the evolutionary scenario that both traits evolved to enhance the feeding performance for more formidable prey.
Evaluation of perception threshold and pain in patients with Parkinson’s disease using PainVision®
Authors: Kurihara Kanako , Fujioka Shinsuke , Mishima Takayasu , Tsuboi Yoshio 
Published: May 2023

IntroductionPain is one of the most frequent non-motor symptoms occurring in patients with Parkinson’s disease (PD). Traditionally, the Visual Analog Pain Scale (VAS), Numerical Rating Scale (NRS), and Wong-Baker Faces Pain Rating Scale (FRS) have been used for clinical pain assessment, but these assessments are subjective at best. In contrast, PainVision® is a perceptual/pain analyzer that can quantitatively evaluate pain as “pain intensity” based on “current perception threshold” and “pain equivalent current.” We evaluated the current perception threshold in all PD patients and pain intensity in PD patients with pain using PainVision®.MethodsWe recruited 48 patients with PD (PwPD) with pain and 52 PwPD without pain. For patients with pain, we measured current perception threshold, pain equivalent current, and pain intensity using PainVision®, in addition to evaluation by VAS, NRS, and FRS. For patients without pain, only current perception threshold was measured.ResultsThere was no correlation with either VAS or FRS, whereas only weak correlation was identified for NRS (γ = −0.376) with pain intensity. Current perception threshold was positively correlated with duration of the disease (γ = 0.347) and the Hoehn and Yahr stage (γ = 0.259). As a quantitative evaluation of pain, pain intensity by PainVision® does not correlate with conventional subjective pain assessments.DiscussionThis new quantitative evaluation method of pain may be suitable as an evaluation tool for future intervention research. Current perception threshold in PwPD was related to the duration and severity of the disease and may be involved in peripheral neuropathy associated with PD.
Spotlights on adult patients with pediatric-type diffuse gliomas in accordance with the 2021 WHO classification of CNS tumors
Authors: Chen Wenlin , Jin Shanmu , Liu Qianshu , Wang Hai , Xia Yu , Guo Xiaopeng , Guo Siying , Wang Yaning , Shi Yixin , Liu Delin , Li Yilin , Wang Yuekun , Xing Hao , Li Junlin , Wu Jiaming , Liang Tingyu , Qu Tian , Li Huanzhang , Yang Tianrui , Zhang Kun , Wang Yu , Ma Wenbin 
Published: May 2023

IntroductionThe fifth edition of the World Health Organization (WHO) classification of central nervous system (CNS) tumors released in 2021 formally defines pediatric-type diffuse gliomas. However, there is still little understanding of pediatric-type diffuse gliomas, and even less attention has been paid to adult patients. Therefore, this study describes the clinical radiological, survival, and molecular features of adult patients with pediatric-type glioma.MethodsAdult patients who underwent surgery from January 2011 to January 2022, classified as pediatric-type glioma, were included in this study. Clinical, radiological, histopathological, molecular pathological, and survival data were collected for analysis.ResultsAmong 596 adult patients, 20 patients with pediatric-type glioma were screened, including 6 with diffuse astrocytoma, MYB- or MYBL1-altered, 2 with diffuse midline glioma, H3 K27-altered, and 12 with diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype. Pediatric high-grade glioma (pHGG) frequently showed tumor enhancement, peritumoral edema, and intratumoral necrosis. Adult patients with pHGG showed a longer life expectancy than adult patients with glioblastoma. Common molecular alterations included chromosome alterations and CDKN2A/B, PIK3CA, and PTEN, while altered KMT5B and MET were found to affect the overall survival.ConclusionOur study demonstrated adult patients with pediatric-type glioma. Notably, our research aims to expand the current understanding of adult patients with pediatric-type diffuse gliomas. Furthermore, personalized therapies consisting of targeted molecular inhibitors for MET and VEGFA may exhibit beneficial effects in the corresponding population.
Prefrontal activation during dual-task seated stepping and walking performed by subacute stroke patients with hemiplegia
Authors: Nosaka Shinnosuke , Imada Ken , Saita Kazuya , Okamura Hitoshi 
Published: May 2023

ObjectivesThis study examined prefrontal cortex (PFC) activation during dual-task seated stepping and walking performed by subacute stroke patients with hemiplegia and evaluated the relationship between PFC activation, frontal lobe functions, and dual-task interference.MethodsPatients with functional ambulation category (FAC) scores ≤ 2 comprised the seated stepping task group. Those with FAC scores &gt; 2 comprised the walking task group. There were 11 patients in the seated stepping task group (mean age, 65.3±12.2 years; age range, 55-73.5 years; 7 male and 4 female patients; time since stroke onset, 45.7±9.9 days) and 11 patients in the walking task group (mean age, 65.6±15.2 years; age range, 49.5-74.5 years; 7 male and 4 female patients; time since stroke onset, 57.5±18.3 days). Both groups completed the Frontal Assessment Battery (FAB). The seated stepping task group performed the following three tasks: cognitive task (CT), normal seated stepping (NSS), and dual-task seated stepping (DTSS). The walking task group completed the following tasks: CT, normal walking (NW), and dual-task walking (DTW). The CT was a letter fluency task; this letter fluency task was simultaneously performed during seated stepping (DTSS) and walking (DTW). Changes in the oxygenated hemoglobin (O2Hb) concentration and deoxygenated hemoglobin concentration during the tasks were measured using near-infrared spectroscopy (Pocket NIRS HM; Dynasense Inc., Japan). The number of steps, walking speed, and percentage of correct responses to the CT were recorded.ResultsThe results showed that DTSS activated the PFC significantly more than performing a single task and that NSS was associated with a significantly higher difference in the hemoglobin concentration when compared to that associated with the CT, which was a single task. In the walking task group, PFC activation was significantly higher during DTW, NW, and CT (in that order), and O2Hb concentrations were significantly higher in the contralesional hemisphere than in the ipsilesional hemisphere during all tasks. Associations between PFC activation, FAB scores, and dual-task interference in the seated task group indicated significant positive correlations between FAB scores and cognitive performance with dual-task interference.ConclusionDTSS may be an effective means of activating the PFC of patients with difficulty walking.
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation
Authors: Luo Sheng , Ye Xing-Guang , Jin Liang , Li Huan , He Yun-Yan , Guan Bao-Zhu , Gao Liang-Di , Liang Xiao-Yu , Wang Peng-Yu , Lu Xin-Guo , Yan Hong-Jun , Li Bing-Mei , Chen Yong-Jun , Liu Zhi-Gang 
Published: May 2023

BackgroundRecessive SZT2 variants are reported to be associated with developmental and epileptic encephalopathy 18 (DEE-18) and occasionally neurodevelopment abnormalities (NDD) without seizures. This study aims to explore the phenotypic spectrum of SZT2 and the genotype-phenotype correlation.MethodsTrios-based whole-exome sequencing was performed in patients with epilepsy. Previously reported SZT2 mutations were systematically reviewed to analyze the genotype-phenotype correlations.ResultsSZT2 variants were identified in six unrelated cases with heterogeneous epilepsy, including one de novo null variant and five pairs of biallelic variants. These variants had no or low frequencies in controls. All missense variants were predicted to alter the hydrogen bonds with surrounding residues and/or protein stability. The three patients with null variants exhibited DEE. The patients with biallelic null mutations presented severe DEE featured by frequent spasms/tonic seizures and diffuse cortical dysplasia/periventricular nodular heterotopia. The three patients with biallelic missense variants presented mild partial epilepsy with favorable outcomes. Analysis of previously reported cases revealed that patients with biallelic null mutations presented significantly higher frequency of refractory seizures and earlier onset age of seizure than those with biallelic non-null mutations or with biallelic mutations containing one null variant.SignificanceThis study suggested that SZT2 variants were potentially associated with partial epilepsy with favorable outcomes without NDD, expanding the phenotypic spectrum of SZT2. The genotype-phenotype correlation helps in understanding the underlying mechanism of phenotypic variation.
Deep-learning-based automatic segmentation and classification for craniopharyngiomas
Authors: Yan Xiaorong , Lin Bingquan , Fu Jun , Li Shuo , Wang He , Fan Wenjian , Fan Yanghua , Feng Ming , Wang Renzhi , Fan Jun , Qi Songtao , Jiang Changzhen 
Published: May 2023

ObjectiveNeuronavigation and classification of craniopharyngiomas can guide surgical approaches and prognostic information. The QST classification has been developed according to the origin of craniopharyngiomas; however, accurate preoperative automatic segmentation and the QST classification remain challenging. This study aimed to establish a method to automatically segment multiple structures in MRIs, detect craniopharyngiomas, and design a deep learning model and a diagnostic scale for automatic QST preoperative classification.MethodsWe trained a deep learning network based on sagittal MRI to automatically segment six tissues, including tumors, pituitary gland, sphenoid sinus, brain, superior saddle cistern, and lateral ventricle. A deep learning model with multiple inputs was designed to perform preoperative QST classification. A scale was constructed by screening the images.ResultsThe results were calculated based on the fivefold cross-validation method. A total of 133 patients with craniopharyngioma were included, of whom 29 (21.8%) were diagnosed with type Q, 22 (16.5%) with type S and 82 (61.7%) with type T. The automatic segmentation model achieved a tumor segmentation Dice coefficient of 0.951 and a mean tissue segmentation Dice coefficient of 0.8668 for all classes. The automatic classification model and clinical scale achieved accuracies of 0.9098 and 0.8647, respectively, in predicting the QST classification.ConclusionsThe automatic segmentation model can perform accurate multi-structure segmentation based on MRI, which is conducive to clearing tumor location and initiating intraoperative neuronavigation. The proposed automatic classification model and clinical scale based on automatic segmentation results achieve high accuracy in the QST classification, which is conducive to developing surgical plans and predicting patient prognosis.
Association of RANKL and EGFR gene expression with bone metastases in patients with metastatic non-small cell lung cancer
Authors: Brouns Anita J.W.M. , Hendriks Lizza E.L. , Robbesom-van den Berge Iris J. , Driessen Annemariek J.H.M. , Roemen Guido M.J.M. , van Herpen Britt L.J. , Dekkers Zoë , Heitzer Bas , Leunissen Daphne J.G. , Moonen Laura , Lunde Ragnar , Westenend Marcel , van Driel Marjolein , Speel Ernst-Jan M. , Dingemans Anne-Marie C. 
Published: May 2023

IntroductionBone metastases are frequent in patients with non-small cell lung cancer (NSCLC). The receptor activator of Nuclear Factor κB (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) pathway is important in bone metastases development. Furthermore, epidermal growth factor receptor (EGFR) signaling promotes osteoclast formation and stimulation. The understanding of the biological mechanism of bone metastases development might have implications for treatment strategies. Therefore, we studied whether there is an association between EGFR, RANKL, RANK and OPG gene expression in the tumor and presence of bone metastases in patients with NSCLC.MethodsFrom an updated multicenter study, including patients with EGFR mutated (EGFR+), Kirsten rat sarcoma (KRAS+) and EGFR/KRAS wildtype metastatic NSCLC, all patients with available formalin-fixed paraffin-embedded (FFPE) tumor samples were selected. Ribonucleic Acid (RNA) was isolated from these samples and gene expressions of EGFR, RANKL, OPG and RANKL were determined via quantitative Polymerase Chain Reaction (qPCR). Data on demographics, histology and molecular subtyping, sample origin, presence of bone metastasis, SREs and bone progression were collected. Primary endpoint was relation between EGFR, RANK, RANKL, OPG gene expression, RANKL: OPG ratio and bone metastases.ResultsIn 73/335 (32% EGFR+, 49% KRAS+, 19% EGFR/KRAS wildtype) samples from unique patients, gene expression analysis could be performed. Of these 73 patients, 46 (63%) had bone metastases at diagnosis or developed bone metastases during the disease course. No association was found between EGFR expression and presence of bone metastases. Patients with bone metastases had a significantly higher RANKL expression and RANKL: OPG ratio compared to those without. An increased RANKL: OPG ratio resulted in a 1.65x increased risk to develop bone metastases, especially in the first 450 days after diagnosis of metastatic NSCLC.ConclusionIncreased RANKL gene expression and RANKL: OPG ratio, but not EGFR expression, was associated with presence of bone metastases. Additionally, an increased RANKL: OPG gene ratio was associated with a higher incidence of bone metastases development.