bluuebunny/crossref_metadata_2025_split huggingface dataset:
GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders
Authors: Fan Yu , Shen Si , Yang Jing , Yao Dabao , Li Mengjie , Mao Chengyuan , Wang Yunchao , Hao Xiaoyan , Ma Dongrui , Li Jiadi , Shi Jingjing , Guo Mengnan , Li Shuangjie , Yuan Yanpeng , Liu Fen , Yang Zhihua , Zhang Shuo , Hu Zhengwei , Fan Liyuan , Liu Han , Zhang Chan , Wang Yanlin , Wang Qingzhi , Zheng Hong , He Ying , Song Bo , Xu Yuming , Shi Changhe 
Published: February 2022

ObjectiveCGG/GGC repeat expansion in FMR1 and NOTCH2NLC is reportedly associated with movement disorders; therefore, we hypothesized that the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1, which was previously identified in myopathy, might also be associated with movement‐disorder phenotypes. Here, we investigated whether CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1 presents in a cohort of patients with movement disorders.MethodsWe screened for the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1 in 1,346 movement‐disorder patients and 1,451 matched healthy controls.ResultsNo patients or controls harbored expanded CGG repeats in LRP12 or NUTM2B‐AS1, whereas 16 patients harbored >40 CGG repeats in GIPC1, with 11 of these patients harboring >60 CGG repeats. One control individual harbored an expanded GIPC1 allele (83 CGG units), suggesting that approximately 1% of patients affected by movement disorders in our population might harbor GIPC1 CGG repeat expansion, with this likely extremely rare in healthy controls (<0.001). The clinical phenotypes of the GIPC1 CGG repeat‐positive patients strongly resembled those in patients displaying NOTCH2NLC GGC repeat‐positive movement disorders. Additionally, the GIPC1 CGG repeat‐positive patients presented white‐matter hyperintensities but without typical NOTCH2NLC‐related high‐intensity signals in the corticomedullary junction. Furthermore, 44% of the GIPC1 CGG repeat‐positive patients showed a cognitive deficit, and skin biopsies in 2 patients revealed deposition of intranuclear inclusions.InterpretationThe CGG repeat expansion in GIPC1 might be associated with movement‐disorder phenotypes and lead to diseases related to intranuclear inclusions. ANN NEUROL 2022;91:704–715
Synthesis and characterization of two new mixed‐ligand Cu(II) complexes of a tridentate NN'O type Schiff base ligand and N‐donor heterocyclic co‐ligands: In vitro anticancer assay, DNA/human leukemia/COVID‐19 molecular docking studies, and pharmacophore modeling
Authors: Ghasemi Liana , Behzad Mahdi , Khaleghian Ali , Abbasi Alireza , Abedi Anita 
Published: February 2022

AbstractTwo new mixed‐ligand complexes with general formula [Cu(SB)(L')]ClO4 (1 and 2) were synthesized and characterized by different spectroscopic and analytical techniques including Fourier transform infrared (FT‐IR) and UV–Vis spectroscopy and elemental analyses. The SB ligand is an unsymmetrical tridentate NN'O type Schiff base ligand that was derived from the condensation of 1,2‐ethylenediamine and 5‐bromo‐2‐hydroxy‐3‐nitrobenzaldehyde. The L' ligand is pyridine in (1) and 2,2′‐dimethyl‐4,4′‐bithiazole (BTZ) in (2). Crystal structure of (2) was also obtained. The two complexes were used as anticancer agents against leukemia cancer cell line HL‐60 and showed considerable anticancer activity. The anticancer activity of these complexes was comparable with the standard drug 5‐fluorouracil (5‐FU). Molecular docking and pharmacophore studies were also performed on DNA (PDB:1BNA) and leukemia inhibitor factor (LIF) (PDB:1EMR) to further investigate the anticancer and anti‐COVID activity of these complexes. The molecular docking results against DNA revealed that (1) preferentially binds to the major groove of DNA receptor whereas (2) binds to the minor groove. Complex (2) performed better with 1EMR. The experimental and theoretical results showed good correlation. Molecular docking and pharmacophore studies were also applied to study the interactions between the synthesized complexes and SARS‐CoV‐2 virus receptor protein (PDB ID:6LU7). The results revealed that complex (2) had better interaction than (1), the free ligands (SB and BTZ), and the standard drug favipiravir.
Human urinary kallidinogenase may improve the prognosis of acute stroke patients with early neurological deterioration
Authors: Xie Yiju , Li Shengyu , Zhang Jian , Chen Shijian , Deng Xuhui , Cen Gengyu , Liang Zhijian 
Published: February 2022

AbstractObjectivesSome acute ischemic stroke (AIS) patients still suffer from early neurological deterioration (END) after receiving intravenous thrombolysis (IVT), and these patients often have a poor prognosis. The purpose of our study is to observe the efficacy and safety of human urinary kallidinogenase (HUK) treatment in patients with END.MethodsThis was a retrospective analysis and 49 patients with END who met the inclusion criteria were divided into the observation group and the control group. All patients received routine treatment of AIS, while patients in the observation group were treated with HUK within 24 h after IVT and the other group without HUK.ResultsThere were 24 patients in the observation group and 25 patients in the control group. After treatment, favorable prognosis (mRS scores ≤2) at 3 months in the observation group with 13 cases (54.17%) was significantly better than that in the control group with four cases (16%) (p = .001), and there was no statistical difference between the two groups in any hemorrhagic complication.ConclusionHUK is considered to be safe and may improve the prognosis of AIS patients with END after IVT. More clinical trials are needed to validate these results in the future.
Identification of prognostic biomarkers for papillary thyroid carcinoma by a weighted gene co‐expression network analysis
Authors: Meng Kexin , Hu Xiaotian , Zheng Guowan , Qian Chenhong , Xin Ying , Guo Haiwei , He Ru , Ge Minghua , Xu Jiajie 
Published: February 2022

AbstractAimWhole transcriptome analysis was conducted to identify differentially expressed RNAs and regulatory networks associated with papillary thyroid carcinoma (PTC).MethodsA weighted gene co‐expression network analysis based on high‐throughput sequencing data for six pairs of PTC and adjacent tissue samples was conducted to understand the biological functions and regulatory networks involving long non‐coding RNAs (lncRNAs), circular RNAs (circRNAs), microRNAs (miRNAs), and messenger RNAs (mRNAs).ResultsWe detected 131, 338, 31, and 556 differentially expressed circRNAs, lncRNAs, miRNAs, and mRNAs, respectively. We identified modules that were significantly positively and negatively related to cancer and lymph node metastasis. Gray and turquoise modules were positively correlated with cancer phenotypes (p < 0.05), whereas yellow, brown, and blue modules were negatively correlated with cancer (p < 0.05). Gray module was positively correlated with lateral lymph node metastasis (p = 0.02). Kaplan–Meier analyses revealed that the levels of transmembrane protein 63C (TMEM63C), lysyl oxidase‐like 1 (LOXL1), collagen type V alpha 1 chain (COL5A1), ADAM metalloproteinase with thrombospondin type I motif 2 (ADAMTS2), and LysM‐domain containing 3 (LYSMD3) were significantly associated with overall survival (p < 0.05). Significant increase in the expression ofCOL5A1andLOXL1in tumor tissues was validated by quantitative real‐time polymerase chain reaction (p < 0.05).COL5A1andLOXL1promoted PTC cell growth and invasion in vitro.ConclusionsWe identifiedCOL5A1andLOXL1as potential prognostic biomarkers, providing new insights into the occurrence and progression of PTC.
Neonatal intestinal diffuse ganglioneuromatosis with plexiform neurofibromas; Diagnostic and management pitfalls—A case report
Authors: Essa Madani 
Published: February 2022

AbstractNeonatal intestinal ganglioneuroma and neurofibromatosis are rare in neonates. It is a challenging pathology to diagnose and treat. A 3‐week‐old full‐term newborn with a birth weight of 3.5 kg of Arabic ethnicity presented to the emergency department with a recurrent refractory intestinal obstruction. The patient has been diagnosed initially with intestinal obstruction secondary to malrotation and then operated again because of adhesion and internal herniation. Finally, after the third laparotomy, the patient was diagnosed with intestinal ganglioneuromatosis and neurofibromatosis. We reviewed the literature on the diagnosis and management of this rare pathology among neonates and to increase the awareness of it. Intestinal ganglioneuromatosis is a rare neonatal pathology. The clinical presentation of intestinal ganglioneuromatosis is similar to that of intestinal obstructions caused by many other diseases. Ganglioneuromatosis is differentiated from other differential diagnoses based on histopathology. Early diagnosis is vital to ensure appropriate management.
Usefulness of position emission tomography/computed tomography in a case of sarcoidosis with multiorgan involvement
Authors: Amano Norihiko , Takahashi Soshi , Hatachi Saori , Kumagai Shunichi 
Published: February 2022

AbstractSarcoidosis, a systemic inflammatory disease of unknown etiology, can affect any site in the body. A bone lesion was unexpectedly detected by fluorodeoxyglucose position emission tomography/computed tomography (FDG PET/CT) in a patient with multiorgan sarcoidosis. FDG PET/CT should be considered for the detection of clinically silent lesions of sarcoidosis.
Cutaneous leishmaniasis: A case report of a diagnostic dilemma
Authors: Pudasaini Prajwal , Pudasaini Prashanta 
Published: February 2022

AbstractCutaneous leishmaniasis (CL) is the most prevalent clinical form of leishmaniasis and is caused by vector‐borne protozoan parasite. Variation in diagnostic accuracy exists. A 54‐year‐old female farmer by occupation presented with lesion over right thigh for 8 months. Lesion evolved over period of 2–3 months and progressed to form ulcer with surrounding redness. On examination, solitary plaque with crateriform ulcer 3 * 2 cm in size roughly oval in shape was present. Ulcer floor was moist, smooth shiny with serous discharge, and well‐defined raised erythematous margin was present. Biopsy was done which showed features suggestive of lupus vulgaris, for which anti‐tubercular treatment (ATT) was started. There was persistence of ulcer despite 4 months of ATT, for which diagnosis was reconsidered and fine‐needle aspiration cytology (FNAC) was performed. FNAC showed numerous intra‐ and extracellular amastigotes suggestive of leishmaniasis which was treated with complete disappearance of ulcer over 4 months.
Atypical localization of demodicosis after COVID‐19 infection
Authors: Lahouel Ines , Said El Mabrouk Randa , Hadhri Rim , Youssef Monia , Belhadjali Hichem , Zili Jameleddin 
Published: February 2022

AbstractSince its outbreak in December 2019, a consistent number of case reports have been published describing a complex spectrum of skin manifestations associated with COVID‐19. We report a first observation of demodicosis of the scalp after a severe acute respiratory syndrome coronavirus 2 (SARS‐COV‐2) infection.
Spindle cell lipoma: An uncommon variant of lipoma affecting the foot sole
Authors: Ben Salah Nesrine , Lahouel Ines , Manaa Linda , Youssef Monia , Belhadjali Hichem , Zili Jameleddine 
Published: February 2022

AbstractWe report a 36‐year‐old male with an atypical variant of lipoma occurring on an atypical site.
Robot‐assisted excision of rectal duplication cysts: A case report
Authors: Kitazono Masaki , Fujita Makoto , Oyama Tomohiro , Ikeda Naotaka , Eguchi Mayumi , Kamimura Go , Sato Rikiya , Uchiyama Shuichiro , Toyosaki Ryoichi , Suenaga Toyokuni , Shimaoka Shunji 
Published: February 2022

AbstractRectal duplication cysts are extremely rare and account for only 4% of all gastrointestinal duplication cysts. They may become challenging for removal in the case of a large tumor in a narrow pelvis. Herein, we report a case of rectal duplication cysts excision via robotic‐assisted laparoscopic surgery and its utility.
Kaposiform hemangioendothelioma with fatal income: Kasabach–Merritt phenomenon and hypercalcemia
Authors: Massara Baklouti , Mariem Rekik , Emna Bahloul , Meriam Triki , Faiza Safi , Sonia Boudaya , Meriem Amouri , Lamia Gargouri , Tahia Sellami , Hamida Turki 
Published: February 2022

AbstractKaposiform hemangioendothelioma is a rare, borderline tumor that typically occurs during early childhood. Kasabach–Merritt phenomenon is a complication characterized by a consumptive coagulopathy resulting from the localized intravascular coagulation. Hypercalcemia generation is a rare association that was related in our case to parathyroid hormone‐related protein produced by this angioma.
Distributed process monitoring for large‐scale processes based on MJMI‐weighted DKPCA
Authors: Zhang Qi , Li Peng , Lang Xun , Miao Aimin , Xie Lei 
Published: February 2022

AbstractAlthough the distributed monitoring model has been widely employed in monitoring large‐scale processes, the dynamic nonlinear property in process data is rarely investigated. Given the complex dynamic nature of industrial processes, different process variables interact with each other over time. In order to describe the correlation of dynamic variables more accurately, this work proposes a novel dynamic nonlinear fault detection framework based on maximum joint mutual information (MJMI)‐weighted dynamic kernel principal component analysis (WDKPCA). After dividing the process variables using the MJMI scheme, the proposed dynamic weighting method defines the weight of time‐delayed variables, which allows the dynamic characteristics of these variables to be characterized more comprehensively. By these means, the processes can be decomposed into multiple subblocks, and a distributed monitoring scheme based on DKPCA is thus established. Then, the Bayesian fusion strategy is used to fuse the monitoring results of different subblocks. Through a series of experiments on the Tennessee Eastman (TE) process, the results indicate that MJMI‐WDKPCA has superior process monitoring performance.
Digital reconstruction and quantitative morphometric analysis of bipolar cells in live rat retinal slices
Authors: Fournel Rémi , Veruki Margaret L. , Hartveit Espen 
Published: February 2022

AbstractBipolar cells convey signals from photoreceptors in the outer retina to amacrine and ganglion cells in the inner retina. In mammals, there are typically 10–15 types of cone bipolar cells and one type of rod bipolar cell. Different types of cone bipolar cells are thought to code and transmit different features of a complex visual stimulus, thereby generating parallel channels that uniquely filter and transform the photoreceptor outputs. Differential synaptic connectivity and expression of ligand‐ and voltage‐gated ion channels are thought to be important mechanisms for processing and filtering visual signals. Whereas the biophysical basis for such mechanisms has been investigated more extensively in rat retina, there is a lack of quantitative morphological data necessary for advancing the structure–function correlation in this species, as recent connectomics investigations have focused on mouse retina. Here, we performed whole‐cell recordings from cone and rod bipolar cells in rat retinal slices, filled the cells with fluorescent dyes, and acquired image stacks by multiphoton excitation microscopy. Following deconvolution, we performed digital reconstruction and morphometric analysis of 25 cone and 14 rod bipolar cells. Compared to previous descriptions, the extent and complexity of branching of the axon terminal was surprisingly high. By precisely quantifying the level of stratification of the axon terminals in the inner plexiform layer, we have generated a reference system for reliable classification of individual cells in future studies focused on correlating physiological and morphological properties. The implemented workflow can be extended to the development of morphologically realistic compartmental models for these neurons.
Visible‐Light‐Triggered Degradation of pH‐Responsive Micelles Based on ortho‐Hydroxy Cinnamates
Authors: Abramov Alex , Bonardd Sebastián , Saldías César , Díaz Díaz David 
Published: February 2022

AbstractMicelles made by connecting hydrophobic and hydrophilic chains via photo‐responsive ortho‐hydroxy cinnamate (oHC) units undergo complete degradation within 10 min under visible light irradiation at basic pH values. This proof of concept relies on the controlled cyclization of the oHC moiety affording the corresponding coumarin with the concomitant separation of the hydrophobic portion. Furthermore, the neat polymeric micelles are stable under daylight conditions, thus allowing its storage without special precautions at neutral pH. The amphiphilic nature of mPEG750‐oHC‐dodecyl, expressed as the ability to self‐assemble into micellar aggregates in aqueous media, was corroborated by the measurement of its critical micellar concentration (CMC) by fluorescence analysis, as well as the successful visualization of these aggregates using transmission electron microscopy (TEM). Moreover, the size distribution and suspension stability of these aggregates obtained at different pH values was analyzed in terms of dynamic light scattering (DLS) and zeta potential measurements.
Reconstructing lake bottom water temperatures and their seasonal variability in the Dead Sea Basin during MIS5e
Authors: Brall Niels S. , Gardien Véronique , Ariztegui Daniel , Sorrel Philippe , Guillerm Emmanuel , Caupin Frédéric 
Published: February 2022

AbstractInterglacial periods are characterised by thick accumulations of halite units in the Dead Sea Basin. During these intervals, small water droplets (fluid inclusions, FIs) were entrapped in the halite crystals which serve as windows to estimate the chemistry and physical properties of the primary lake water conditions. Brillouin spectroscopy is used here to reconstruct annual resolution temperatures from a halite core section in the Dead Sea Basin during the onset of Marine Isotope Stage 5e (ca 130 ka) of the Last Interglacial. Lake bottom temperatures can be inferred based on the occurrence of coarse/fine halite facies, as observed today with the formation of equivalent halite facies during winter/summer seasons in the Dead Sea. A recurring increase in lake bottom temperatures is found along the direction of coarse halite layers in three successive years. Moreover, low FI entrapment temperatures were detected in layers of fine (cumulate) halite facies. These results imply a twofold stronger seasonality in the Dead Sea Basin compared to today, with colder winters at the onset of Marine Isotope Stage 5e. The results therefore highlight the potential of using cyclic salt deposits to reconstruct seasonal temperature variability for numerous evaporitic environments in the geological record.
Adaptation to a bacterial pathogen in Drosophila melanogaster is not aided by sexual selection
Authors: Sharda Sakshi , Kawecki Tadeusz J. , Hollis Brian 
Published: February 2022

AbstractTheory predicts that sexual selection should aid adaptation to novel environments, but empirical support for this idea is limited. Pathogens are a major driver of host evolution and, unlike abiotic selection pressures, undergo epidemiological and co‐evolutionary cycles with the host involving adaptation and counteradaptation. Because of this, populations harbor ample genetic variation underlying immunity and the opportunity for sexual selection based on condition‐dependent “good genes” is expected to be large. In this study, we evolved populations of Drosophila melanogaster in a 2‐way factorial design manipulating sexual selection and pathogen presence, using a gram‐negative insect pathogen Pseudomonas entomophila, for 14 generations. We then examined how the presence of sexual selection and the pathogen, as well as any potential interaction, affected the evolution of pathogen resistance. We found increased resistance to P. entomophila in populations that evolved under pathogen pressure, driven primarily by increased female survival after infection despite selection for resistance acting only on males over the course of experimental evolution. This result suggests that the genetic basis of resistance is in part shared between the sexes. We did not find any evidence of sexual selection aiding adaptation to pathogen, however, a finding contrary to the predictions of “good genes” theory. Our results therefore provide no support for a role for sexual selection in the evolution of immunity in this experimental system.
Drivers of Collembola assemblages along an altitudinal gradient in northeast China
Authors: Xie Zhijing , Sun Xin , Lux Johannes , Chen Ting‐Wen , Potapov Mikhail , Wu Donghui , Scheu Stefan 
Published: February 2022

AbstractAltitudinal changes in the diversity of plants and animals have been well documented; however, soil animals received little attention in this context and it is unclear whether their diversity follows general altitudinal distribution patterns. Changbai Mountain is one of few well‐conserved mountain regions comprising natural ecosystems on the Eurasian continent. Here, we present a comprehensive analysis of the diversity and community composition of Collembola along ten altitudinal sites representing five vegetation types from forest to alpine tundra. Among 7834 Collembola individuals, 84 morphospecies were identified. Species richness varied marginally significant with altitude and generally followed a unimodal relationship with altitude. By contrast, the density of Collembola did not change in a consistent way with altitude. Collembola communities changed gradually with altitude, with local habitat‐related factors (soil and litter carbon‐to‐nitrogen ratio, litter carbon content, and soil pH) and climatic variables (precipitation seasonality) identified as major drivers of changes in Collembola community composition. Notably, local habitat‐related factors explained more variation in Collembola assemblages than climatic variables. The results suggest that local habitat‐related factors including precipitation and temperature are the main drivers of changes in Collembola communities with altitude. Specifically, soil and litter carbon‐to‐nitrogen ratio correlated positively with Collembola communities at high altitudes, whereas soil pH correlated positively at low altitudes. This documents that altitudinal gradients provide unique opportunities for identifying factors driving the community composition of not only above‐ but also belowground invertebrates.
Low‐pH seawater alters indirect interactions in rocky‐shore tidepools
Authors: Jellison Brittany M. , Elsmore Kristen E. , Miller Jeffrey T. , Ng Gabriel , Ninokawa Aaron T. , Hill Tessa M. , Gaylord Brian 
Published: February 2022

AbstractOcean acidification is expected to degrade marine ecosystems, yet most studies focus on organismal‐level impacts rather than ecological perturbations. Field studies are especially sparse, particularly ones examining shifts in direct and indirect consumer interactions. Here we address such connections within tidepool communities of rocky shores, focusing on a three‐level food web involving the keystone sea star predator, Pisaster ochraceus, a common herbivorous snail, Tegula funebralis, and a macroalgal basal resource, Macrocystis pyrifera. We demonstrate that during nighttime low tides, experimentally manipulated declines in seawater pH suppress the anti‐predator behavior of snails, bolstering their grazing, and diminishing the top‐down influence of predators on basal resources. This attenuation of top‐down control is absent in pools maintained experimentally at higher pH. These findings suggest that as ocean acidification proceeds, shifts of behaviorally mediated links in food webs could change how cascading effects of predators manifest within marine communities.