bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Epidemiology and Hematologic Characterizationof δβ-thalassemia and Hereditary Persistence of Fetal Hemoglobin in 125661 Families of Greater Guangzhou Area, the metropolis of Southern China
Authors: JIANG FAN , Liao Can 
Published: November 2019

Abstract
Background:Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpose of this study was to examine the molecular epidemiology and hematologic characteristics of these disorders in Guangzhou, the largest city in Southern China, to offer advice for thalassemia screening programs and genetic counseling. Methods: A total of 125,661 couples participated in pregestational thalassemia screening. 654 subjects with fetal hemoglobin (Hb F) level ≥5% were selected for further investigation. Gap-PCR combined with Multiplex ligation dependent probe amplification (MLPA) were used to screen for β-globin gene cluster deletions. Gene sequencing for the promoter region of HBG1 /HBG2 gene were performed for all those subjects. Results: A total of 654 individuals had hemoglobin (HbF) levels ≥5%, and 0.12% of the couples were found to be heterozygous for HPFH/δβ-thalassemia, including Chinese Gγ(Aγδβ)0-thal, Southeast Asia HPFH (SEA-HPFH), Taiwanese deletion and Hb Lepore–Boston–Washington. The highest prevalence was observed in the Huadu district and the lowest in the Nansha district. Three cases were identified as carrying β-globin gene cluster deletions, which had not been previously reported. Two at-risk couples (0.0015%) were required to receive prenatal diagnosis. We also found 53 cases of nondeletional-HPFH (nd-HPFH), including 52 with Italian nd-HPFH and one with the Aγ-197C-T heterozygous state. It is difficult to discriminate between Chinese Gγ(Aγδβ)0-thal and Italian nd-HPFH carriers using hemoglobin (Hb) analysis. Conclusions: This study is the first to describe the familial prevalence of HPFH/δβ-thalassemia and the high-risk rate in in Greater Guangzhou Area, and the findings will support the implementation of thalassemia screening for three common deletions by gap-PCR. We alsopresented a systematic description of genotype-phenotype relationships which will be useful for genetic counseling and prenatal diagnostic services for β-thalassemia intermedia.Keywords: Prevalence, δβ-thalassemia, HPFH, Guangzhou
Clinical Implications of Pachyvessels in Polypoidal Choroidal Vasculopathy
Authors: Ijuin Nobuo , Tsujinaka Hiroki , Hirai Hiromasa , Jimura Hironobu , Nakao Shigeya , Yamashita Mariko , Nishi Tomo , Ueda Tetsuo , Ogata Nahoko 
Published: November 2019

Abstract
Purpose: Polypoidal choroidal vasculopathy (PCV) is one of the disorders within the pachychoroid spectrum diseases. The presence of pachyvessels is one of the characteristics of pachychoroid disorders. However, the relationship between the presence of pachyvessels and the clinical characteristics of PCV eyes has not been determined. The purpose of this study was to determine the relationship between the presence of choroidal pachyvessels and the clinical characteristics of eyes with PCV.Methods: The medical records of patients who were diagnosed with PCV and were treatment-naïve were reviewed. Fluorescein and indocyanine green angiography, fundus photography, spectral domain optical coherence tomography (SD-OCT), and enhanced depth imaging OCT (EDI-OCT) were used to obtain images of the choroid. The PCV eyes were divided into two groups based on the presence or absence of pachyvessels and clinical features and subfoveal choroidal thickness (SFCT) were evaluated between the two groups.Results: Eighty-six eyes of 84 patients with PCV were evaluated. Pachyvessels were detected in 48 eyes (55.8％). The mean SFCT was 203.9 ± 83.9 μm in all 86 eyes, and it was significantly thinner in eyes with pachyvessels (+) than without pachyvessels (-) (183.2 ± 58.4 μm vs 230.2 ± 103.1 μm; P=0.01). The differences in the incidence of subretinal fluid, pigment epithelial detachments, and hemorrhages between the two groups were not significant. However, the PCV eyes in pachyvessels (+) group with hemorrhage had the thinnest choroid (P=0.047). The choroidal features of the fellow eyes were similar to those of the PCV affected eyes, that is, the fellow eyes in pachyvessels (+) group had pachyvessels and the fellow eyes in pachyvessels (-) group did not had pachyvessels. Conclusions: Pachyvessels were presented 55.8% in eyes with PCV, and these eyes had the thin SFCT. The presence of pachyvessels and attenuation of the inner choroid were probably due to the pathological changes in the eyes with PCV.
First description of increased resistance in carbapenem-susceptible Klebsiella pneumoniae with imipenem treatment driven by outer membrane remodelling in China
Authors: Tian Xuebin , Wang Qiongdan , Zheng Xiangkuo , Zhao Yajie , Fang Renchi , Li Jiahui , Wang Chong , Liu Haiyang , Cao Jianming , Zhou Tieli 
Published: November 2019

Abstract
The emergence of carbapenem-resistant Kelbsiella pneumoniae (CRKP) posed threats to human health. Although there are numerous studies regarding porin alteration in association with the production of ESBLs and/or AmpC β-lactamase, a systematic research about the treatment-emergence of porins alteration in antibiotic resistance does not exist yet. The aim of this study was to investigate the underlying mechanism and evolution of resistance of K. pneumoniae during carbapenem treatment. Here, we reported three strains (FK-2624, FK-2723 and FK-2820) isolated from one patient before and after imipenem treatment during hospitalization. Antibiotic susceptibility testing indicated that FK-2624 was susceptible to almost antimicrobials but fosfomycin; FK-2723 and FK-2820 were MDR. After imipenem therapy, FK-2820 was evolved to carbapenem-resistant. PCR and Whole-Genome sequencing ( WGS) indicated that resistance genes bla SHV , oqxA and fosA5 were detected in FK-2624, in addition, FK-2723 and FK-2820 harbored bla DHA , qnrB , aac (6’)-Ib . Virulence factors K57, ybtA, mrkD, entB and iroN were detected simultaneously in all of three strains. The results of pairwise comparisons , multi-locus sequencing typing (MLST) and pulsed-field gel electrophoresis (PFGE) revealed high homology among the isolates. Sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) results showed that isolate FK-2820 lacked OmpK 36 as there was a premature stop codon of the outer membrane porin encoding gene ompk36 confirmed by sequencing. Real-time RT-PCR revealed that the expression of ompK36 in FK-2820 was 0.093 times the control isolate ATCC 13883. Our study highlighted that the alteration of outer membrane porins due to the 14-day use of imipenem clinically play a potential role in leading to the carbapenems-resistance of FK-2820.
An analysis of clinical risk factors for adolescent scoliosis caused by spinal cord abnormalities in China: Proposal for a selective whole-spine MRI examination scheme
Authors: Xu Wei , Zhang Xiangyang , Zhu Ying , li zhikun , Zhu Xiaodong , Li Dachuan , Jia Jianjun , Chen Liwei , Wang Silian , Bai Yushu , Li Ming 
Published: November 2019

Abstract
Background This study examined the risk factors for non-idiopathic scoliosis with intramedullary abnormalities, explored the feasibility of whole-spine MRI, and provided a theoretical basis for the routine diagnosis and treatment of adolescent idiopathic scoliosis.
Method The clinical data of adolescent scoliosis patients who were admitted to Shanghai Tongren Hospital and Shanghai Changhai Hospital between July 1, 2013, and December 31, 2018, were reviewed. According to the whole-spine MRI results, the patients were divided into either the idiopathic group or the intramedullary abnormality group. Sex, age, main curvature angle, main curvature direction, kyphosis angle, scoliosis type, coronal plane balance, sagittal plane balance, abdominal wall reflex, sensory abnormality, ankle clonus and tendon reflexes were compared between the two groups. Student’s t test was used to evaluate the differences in the continuous variables, and the chi-square test was used to evaluate the differences in the categorical variables. Fisher’s exact test was applied to detect the difference in the rate of intraspinal anomalies between the groups. Logistic regression was used to evaluate the correlation between the multivariate risk factors and intramedullary abnormalities.
Result A total of 714 adolescent scoliosis patients with a mean age of 13.5 (10-18 years) were included in the study, and intramedullary abnormalities were found in 68 (9.5%) patients. There were statistically significant differences in the incidence rates of intramedullary abnormalities between males and females, left and right thoracic curvatures, angular scoliosis and smooth scoliosis, and abnormal abdominal wall reflex and ankle clonus (P<0.01). Logistic regression showed that the ratios for sex, scoliosis direction, scoliosis type, abdominal wall reflex and ankle clonus were 2.987, 3.493, 4.823, 3.94 and 8.083, respectively. The ROC curve showed a sensitivity of 66.18% and a specificity of 89.01%, and the Youden index corresponding to the optimal critical point was 0.5519.
Conclusion Risk factors associated with adolescent scoliosis caused by abnormal intramedullary abnormalities included male sex, thoracic scoliosis on the left side, sharp curvature of the spine, abnormal abdominal wall reflex and ankle clonus. These clinical indicators suggest that there is a high-risk adolescent scoliosis population who should undergo whole-spinal MRI preoperatively to rule out intramedullary abnormalities.
Biomechanical Evaluation of strategies for Adjacent Segment Disease after Lateral lumbar interbody fusion: is extension of pedicle screw necessary?
Authors: Liang Ziyang , Cui Jianchao , Zhang Jiarui , He Jiahui , Tang Jingjing , Ren Hui , Ye Linqiang , Liang De , Jiang Xiaobing 
Published: November 2019

Abstract
Background: Adjacent segment disease (ASD) is a well-known complication after interbody fusion. Pedicle screw-rod revision possessed sufficient strength and rigidity. However, is a surgical segment with rigid fixation necessary for ASD reoperation? This study aimed to investigate the biomechanical effect on LLIF with different instrumentation for ASD treatment.Methods: A validated L2~5 finite element (FE) model was modified to simulate. ASD was considered the level cranial to the upper-instrumented segment(L3/4). Bonegraft fusion in LLIF with bilateral pedicle screw fixation (BPS) has occurred at the L4/5. The ASD segment for each group was underwent a) LLIF + posterior extension of BPS, b) PLIF + posterior extension of BPS, c) LLIF + lateral screw, d) Stand-alone LLIF. L3/4 Range of motion (ROM), interbody cage stress and strain, screw-boneinterface stress, cage-endplate interface stress, and L2/3 nucleus pulposus of intradiscal pressure (NP-IDP) analysis were calculated for the comparisons among fourmodels.Results: All reconstructive models displayed decreased motion at L3/4. In each loading condition, difference was not significant between model a and b, which providedthe maximum ROM reduction (73.8% to 97.7%, 68.3% to 98.4%, respectively). Model c also provided a significant ROM reduction (64.9% to 77.5%). Model d provided a minimal restriction of ROM (18.3% to 90.1%), which exceeded that of model a by 13.1 times in flexion-extension, 10.3 times in lateral bending and 4.8 times in rotation. Model b generated greater cage stress than other models, particularly in flexion. The maximum displacement of the cage and the peak stress of cage-endplate interface were found to be the highest in the model d in all loading conditions. For the screw bone interface, the stress was significantly greater in lateral instrumentation than that of posterior instrumentation.Conclusions: Stand-alone LLIF is likely to have limited stability, particularly in lateral bending and axial rotation. Posterior extension of BPS can provide the reliablystability and excellently protective effect on instrumentation and endplate. However, LLIF with in situ screw may be an alternative for ASD reoperation.
Role of CD4+ CD25+ FOXP3+ regulatory T-cells and human papilloma virus infection in Egyptian Women with breast cancer
Authors: Tawfeik Amany , Mora Ahmed , Osman Ahmed , Elsheikh Nabila , Elrefaei Mohamed 
Published: November 2019

Abstract
Several subsets of regulatory CD4+ T cells (CD4+ Tregs) have been described in peripheral blood and tumor microenvironment and blood of breast cancer (BC) patients and may play a key role in the progression of BC. High-risk human papilloma virus (HPV) have a causal role in a significant proportion of cervical, and head, and neck tumors and may play an important role in evoking neoplasia in BC. In this study we assessed the prevalence of CD4+Tregs (CD4+CD25+ FOXP3+ cells) and CD8+T cells by flow cytometry in peripheral blood from a total of 55 Egyptian women, including 20 treatment-naïve BC, 15 with breast benign lesions (BBL) and 20 healthy volunteers (HV). High-risk HPV genotype type 16, 18, and 31 was investigated in breast tissue from all BC and BBL patients using Real-Time PCR. HPV was detected in 4 BC, but in none of BBL patients. The frequency of CD4+ Tregs was significantly higher in BC compared to BBL and HV, (p < 0.001). In addition, we observed a significantly higher frequency of CD8+ T cells in peripheral blood of patients with late stage III compared to early stage I and II BC (p = 0.011). However, there was no significant association between the ratio of CD8+ T cell to CD4+ Tregs frequencies and the expression of Estrogen Receptor (ER), Progesterone Receptor (PR), and Human Epidermal Growth Factor Receptor 2 (HER2). In conclusion, CD4+ Tregs may contribute to progression BC in Egyptian women with HPV infection. The potential role CD4+ Tregs as a prognostic or predictive parameter should be analyzed in a larger longitudinal study with sufficient follow-up time.
High‐Throughput Approaches for Phenotyping Alfalfa Germplasm under Abiotic Stress in the Field
Authors: Cazenave Alexandre‐Brice , Shah Kushendra , Trammell Tresa , Komp Michael , Hoffman Justin , Motes Christy M. , Monteros Maria J. 
Published: November 2019

Core Ideas
Remote sensing technologies enable rapid and nondestructive phenotyping of plants in the field.
Biomass estimate accuracy from images and sensors was similar to yields harvested manually.
Biomass yield variation identified the most productive accessions under low‐input conditions.
High‐throughput phenotyping technologies enable monitoring plant growth and development nondestructively throughout the growing season. Crop losses associated with abiotic and biotic factors threaten the sustainability of crops used for feed, fiber, and fuel. The process to develop improved cultivars with enhanced crop yields includes phenotyping hundreds of plants under a target set of conditions. However, the manual collection of data is often laborious and time consuming. Strategies that integrate remote sensing technologies including unmanned aerial vehicles (UAVs) and sensors mounted on “phenomobiles” can streamline phenotyping efforts in plant breeding programs. The objectives of this study were to compare the phenotypic data collected from the field using UAVs, sensors, and manual approaches and to assess the potential of high‐throughput approaches to rank the productivity of alfalfa (Medicago sativa L.) accessions growing in the field. Phenotypic data were collected from 100 alfalfa accessions established and grown under low‐input conditions. Specific traits evaluated using both UAVs and sensors mounted on a phenomobile prior to physically harvesting the biomass during four harvests include biomass yield, plant height, normalized difference vegetation index, leaf area index, and ground coverage. The results from both the UAV and the sensors were highly correlated to the physical measurements obtained for the multiple traits evaluated. Therefore, field‐based high‐throughput phenotyping strategies represent a viable option for efficiently screening germplasm in the field to increase phenotyping efficiencies in plant breeding programs.
Characterization of an Intermediate Filament Protein from the Platyhelminth,Dugesia japonica
Authors: Yamamoto Akiko , Matsunaga Ken-ichiro , Anai Toyoaki , Kawano Hitoshi , Ueda Toshihisa , Matsumoto Toshihiko , Ando Shoji 
Published: November 2019

Background:Intermediate Filaments (IFs) are major constituents of the cytoskeletal systems in animal cells.Objective:To gain insights into the structure-function relationship of invertebrate cytoplasmic IF proteins, we characterized an IF protein from the platyhelminth, Dugesia japonica, termed Dif-1.Method:cDNA cloning, in situ hybridization, immunohistochemical analysis, and IF assembly experiments in vitro using recombinant Dif-1, were performed for protein characterization.Results:The structure deduced from the cDNA sequence showed that Djf-1 comprises 568 amino acids and has a tripartite domain structure (N-terminal head, central rod, and C-terminal tail) that is characteristic of IF proteins. Similar to nuclear IF lamins, Djf-1 contains an extra 42 residues in the coil 1b subdomain of the rod domain that is absent from vertebrate cytoplasmic IF proteins and a nuclear lamin-homology segment of approximately 105 residues in the tail domain; however, it contains no nuclear localization signal. In situ hybridization analysis showed that Djf-1 mRNA is specifically expressed in cells located within the marginal region encircling the worm body. Immunohistochemical analysis showed that Djf-1 protein forms cytoplasmic IFs located close to the microvilli of the cells. In vitro IF assembly experiments using recombinant proteins showed that Djf-1 alone polymerizes into IFs. Deletion of the extra 42 residues in the coil 1b subdomain resulted in the failure of IF formation.Conclusions:Together with data from other histological studies, our results suggest that Djf- 1 is expressed specifically in anchor cells within the glandular adhesive organs of the worm and that Djf-1 IFs may play a role in protecting the cells from mechanical stress.
Neurotoxic and Neuroprotective Role of Exosomes in Parkinson’s Disease
Authors: Longoni Biancamaria , Fasciani Irene , Kolachalam Shivakumar , Pietrantoni Ilaria , Marampon Francesco , Petragnano Francesco , Aloisi Gabriella , Coppolino Maria F. , Rossi Mario , Scarselli Marco , Maggio Roberto 
Published: November 2019

:Exosomes are extracellular vesicles produced by eukaryotic cells that are also found in most biological fluids and tissues. While they were initially thought to act as compartments for removal of cellular debris, they are now recognized as important tools for cell-to-cell communication and for the transfer of pathogens between the cells. They have attracted particular interest in neurodegenerative diseases for their potential role in transferring prion-like proteins between neurons, and in Parkinson’s disease (PD), they have been shown to spread oligomers of α-synuclein in the brain accelerating the progression of this pathology. A potential neuroprotective role of exosomes has also been equally proposed in PD as they could limit the toxicity of α-synuclein by clearing them out of the cells. Exosomes have also attracted considerable attention for use as drug vehicles. Being nonimmunogenic in nature, they provide an unprecedented opportunity to enhance the delivery of incorporated drugs to target cells. In this review, we discuss current knowledge about the potential neurotoxic and neuroprotective role of exosomes and their potential application as drug delivery systems in PD.
Modern Catalysts in A3- Coupling Reactions
Authors: Ramazani Ali , Ahankar Hamideh , Nafeh Zahra T. , Joo Sang W. 
Published: November 2019

:Propargylamines are an important constituent of diverse, biologically active and industrially valuable compounds. These useful, convenient and effective compounds can be synthesized via the A3-coupling reactions between an aldehyde, amine, and alkyne in the presence of a catalyst. In the past years, most of the catalysts containing transition metals were applied in these reactions, but today, various heterogeneous catalysts, especially nanocatalysts are used. The purpose of this review was to introduce some modern catalysts for the A3-coupling reaction.
Development of Ubiquitin Tools for Studies of Complex Ubiquitin Processing Protein Machines
Authors: Sui Xin , Li Yi-Ming 
Published: November 2019

:
Ubiquitination is one of the most extensive post-translational modifications in
eukaryotes and is involved in various physiological processes such as protein degradation,
autophagy, protein interaction, and protein localization. The ubiquitin (Ub)-related protein
machines include Ub-activating enzymes (E1s), Ub-conjugating enzymes (E2s), Ub ligases
(E3s), deubiquitinating enzymes (DUBs), p97, and the proteasomes. In recent years,
the role of DUBs has been extensively studied and relatively well understood. On the
other hand, the functional mechanisms of the other more complex ubiquitin-processing
protein machines (e.g., E3, p97, and proteasomes) are still to be sufficiently well explored
due to their intricate nature. One of the hurdles facing the studies of these complex protein
machines is the challenge of developing tailor-designed structurally defined model substrates,
which unfortunately cannot be directly obtained using recombinant technology. Consequently, the acquisition
and synthesis of the ubiquitin tool molecules are essential for the elucidation of the functions and
structures of the complex ubiquitin-processing protein machines. This paper aims to highlight recent studies on
these protein machines based on the synthetic ubiquitin tool molecules.
Neuroprotective Effect of β-secretase Inhibitory Peptide from Pacific Hake (Merluccius productus) Fish Protein Hydrolysate
Authors: Lee Jung Kwon , Li-Chan Eunice C.Y. , Cheung Imelda W.Y. , Jeon You-Jin , Ko Ju-Young , Byun Hee-Guk 
Published: November 2019

Background:
Various methodologies have been employed for the therapeutic interpolation of
the progressive brain disorder Alzheimer’s disease. Thus, β-secretase inhibition is significant to prevent
disease progression in the early stages.

Objective:
This study seeks to purify and characterize a novel β-secretase inhibitory peptide from Pacific
hake enzymatic hydrolysate.

Methods:
A potent β-secretase inhibitory peptide was isolated by sequential purifications using Sephadex
G-25 column chromatography and octadecylsilane (ODS) C18 reversed-phase HPLC. A total of
seven peptides were synthesized using the isolated peptide sequences. SH-SY5Y cells stably transfected
with the human ‘‘Swedish’’ amyloid precursor protein (APP) mutation APP695 (SH-SY5YAPP695swe)
were used as an in-vitro model system to investigate the effect of Leu-Asn peptide on APP
processing.

Results:
The β-secretase inhibitory activity (IC50) of the purified peptide (Ser-Leu-Ala-Phe-Val-Asp-
Asp-Val-Leu-Asn) from fish protein hydrolysate was 18.65 μM and dipeptide Leu-Asn was the most
potent β-secretase inhibitor (IC50 value = 8.82 µM). When comparing all the seven peptides, the inhibition
pattern of Leu-Asn dipeptide was found to be competitive by Lineweaver-Burk plot and Dixon plot
(Ki value = 4.24 µM). The 24 h treatment with Leu-Asn peptide in SH-SY5Y cells resulted in reducing
the β-amyloid (Aβ) production in a dose-dependent manner.

Conclusion:
Therefore, the results of this study suggest that β-secretase inhibitory peptides derived from
marine organisms could be potential candidates to develop nutraceuticals or pharmaceuticals as antidementia
agents.