bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing
Authors: Heidari Masoud , Gharshasbi Hamid , Isazadeh Alireza , Soleyman-Nejad Morteza , Taskhiri Mohammad Hossein , Shapouri Javad , Bolhassani Manzar , Sadighi Nahid , Heidari Mansour 
Published: February 2021

Background:
Polycystic kidney disease (PKD) is an autosomal recessive disorder resulting
from mutations in the PKHD1 gene on chromosome 6 (6p12), a large gene spanning 470 kb of
genomic DNA.

Objective:
The aim of the present study was to report newly identified mutations in the PKHD1
gene in two Iranian families with PKD.

Materials and Methods:
Genetic alterations of a 3-month-old boy and a 27-year-old girl with PKD
were evaluated using whole-exome sequencing. The PCR direct sequencing was performed to analyse
the co-segregation of the variants with the disease in the family. Finally, the molecular function
of the identified novel mutations was evaluated by in silico study.

Results:
In the 3 month-old boy, a novel homozygous frameshift mutation was detected in the
PKHD1 gene, which can cause PKD. Moreover, we identified three novel heterozygous missense
mutations in ATIC, VPS13B, and TP53RK genes. In the 27-year-old woman, with two recurrent
abortions history and two infant mortalities at early weeks due to metabolic and/or renal disease,
we detected a novel missense mutation on PKHD1 gene and a novel mutation in ETFDH gene.

Conclusion:
In general, we have identified two novel mutations in the PKHD1 gene. These molecular
findings can help accurately correlate genotype and phenotype in families with such disease in
order to reduce patient births through preoperative genetic diagnosis or better management of disorders.
Neuroprotector Effect of Daily 8-Minutes of High-Intensity Interval Training in Rat Aβ1-42 Alzheimer Disease Model
Authors: Vasconcelos-Filho Francisco S.L. , da Rocha-e-Silva Roberta C. , Martins Jonathan E.R. , Godinho Welton D.N. , da Costa Vitor V. , Ribeiro Jannison K.C. , da Silva Carlos A. , Ceccatto Vania M. , Soares Paula M. , Evangelista Janaina S.A.M. 
Published: February 2021

Background:
Alzheimer’s disease (AD) is the most common and irreversible neurodegenerative
disorder, and amyloid peptide plays a central role in its pathogenesis. Physical training contributes
as a beneficial adaptation to AD. However, these effects may be underestimated because much of
the literature used fixed training prescription variables (intensity and volume) throughout the protocol.
Moreover, researchers poorly understand whether chronic high-intensity interval training (HIIT) exerts
similar effects on the brain tissue of individuals with AD.

Objective:
This study evaluated the effect of 8 minutes of HIIT with incremental overload in an AD
model.

Methods:
Forty male Wistar rats were divided into four groups: an untrained Sham group, Sham
trained group, Aβ1-42 (Alzheimer’s) untrained group, and Aβ1-42 (Alzheimer’s) trained group (n=10 rats
per group). Animals underwent stereotactic surgery and received a hippocampal injection of Aβ1-42 or a
saline solution. Seven days after surgery, two weeks of treadmill adaptation followed by a maximal
running test (MRT) was performed. Then, animals were subjected to eight weeks of HIIT. Rats were
sacrificed 24 h after the behavioral tests (open field and Morris water maze), hippocampal tissue was
extracted to analyze the redox balance and BDNF/TrkB pathway, and neuritic plaques (NP) were
detected by evaluating silver impregnation.

Results:
The AD trained group presented a physical capacity amelioration every two weeks and
locomotor, learning, and memory improvements (p<0.05). These effects were accompanied by
increased CAT and SOD levels, followed by decreased lipid peroxidation (p<0.05). Furthermore,
increased activation of the BDNF/TrkB (p<0.05) pathway and decreased NP was observed.

Conclusions:
Based on these results, MRT was essential for an excellent chronic training protocol prescription
and overload adjustment. Therefore, 8 minutes of HIIT daily for 8 weeks may reduce behavioral
deficits by promoting a positive redox balance and increased activity of the BDNF/TrkB pathway
that may contribute to NP attenuation.
Contribution of Ultrasonography of Hands and Wrists in Early Rheumatoid Arthritis
Authors: Miladi Saoussen , Hamdi Wafa , Maatallah Kaouther , Elj Asma EL , Chelli Mouna , Kaffel Dhia , Kchir Mohamed Montasser 
Published: February 2021

Objectives:
Early diagnosis and management of rheumatoid arthritis (RA) have improved
the outcome of patients. In the last decade, musculoskeletal Ultrasonography (MSUS) had
demonstrated its superiority over clinical examination in detecting synovitis in RA. We conducted
this present study in order to assess the added value of MSUS in diagnosing early RA.

Methods:
A cross-sectional study was conducted, including one hundred patients diagnosed RA
based on the physician's opinion and presenting with inflammatory arthralgia or swollen joints for
more than 6 weeks and less than 2 years. Patients underwent clinical, laboratory, and radiographic
examination. MSUS was performed by a radiologist blinded to clinical findings assessing 22 joints
of hands. A US ACR/EULAR 2010 score was calculated by replacing the swollen joints of hands
with those expressing synovitis in Greyscale US. Agreement between clinical and US ACR/EULAR
score was assessed.

Results:
Among the 2200 joints scanned by the US, synovitis was detected in 81% of patients, an
intra-articular effusion in 36% patients, and PD signals in 51% of patients. Flexor tenosynovitis
was present in 55% of patients and extensor tenosynovitis in 59% of patients. Synovitis and PD signals
were more often detected in wrists. PD mode was found to be correlated with CRP results
(r=0,302, p=0,023). The MSUS assessment has demonstrated synovitis on 71% (N=22) patients
who were free of swollen joints on clinical examination. Through 13 patients expressing
monoarthritis at clinical examination, 69% (N=9) patients were reclassified with oligo or polyarthritis.
By adding US data, a further 13 patients accomplished the ACR/EULAR score. A good level of
agreement was found between clinical and US ACR/EULAR criteria (k=0,684, p=0,001).

Conclusions:
MSUS is an inexpensive and accessible examination tool, which should be considered
in patients in the onset of an inflammatory rheumatic disease in order to benefit of the window of
opportunity and reach remission.
A Combined Bioinformatic and Nanoparticle-Based Study Reveal the Role of ABCG2 in the Drug Resistant Breast Cancer
Authors: Huo Qin , Yuan Jianhui , Zhu Ting , Li Zhenwei , Xie Ni 
Published: February 2021

Background:
ATP-Binding Cassette subfamily G member 2 (ABCG2) is a semi-transport
protein that plays a key role in human diseases, including bladder cancer and lung cancer, and
maybe resistant to chemotherapy drugs.

Objective:
The present study aimed to determine the role and underlying mechanisms of breast cancer
resistance protein (ABCG2) in breast cancer and to study the reversal effect of inhibiting
ABCG2 expression on the drug resistance of breast cancer cells and provide new ideas for gene-targeted
therapy of breast cancer.

Methods:
The structure and genomic alterations of ABCG2 were systematically investigated using
GeneCards and cBioPortal to reveal the genetic alterations (including amplification and deep deletions)
of ABCG2. We performed the correlation between ABCG2 expression and clinicopathological
parameters using the data in bc-GenExMiner 4.4. Then, the protein-protein interaction and functional
enrichment analysis of ABCG2 were performed based on the STRING, bc-GenExMiner 4.4,
and Enrichr databases. Besides, we analyzed the pathway activity of genes that interact with
ABCG2 using GSCALite and PharmGKB. Using magnetic nanoparticles polyMAG as the carrier
of ABCG2-siRNA, polyMAG-ABCG2-siRNA was transfected into the Doxorubicin (DOX)-resistant
breast cancer cell line MCF-7/ADR and directly into the tumors in nude mice. Patent
US20150328485 points out that magnetic nanoparticles can be attached to an anti-cancer drug,
such as an antibody-based anti-cancer drug.

Results:
We found a statistically significant correlation between ABCG2 expression and clinicopathological
parameters, such as Estrogen Receptor (ER), Progesterone Receptor (PR), and human
epidermal growth factor receptor-2 (HER2), and nodal status in breast cancer patients. ABCG2 is
closely related to SLC2A9, KIT, ABCG1, and MRPS7, which suggests that these proteins may be
functional partners of breast cancer. The expression of ABCG2 is correlated with the activation or
inhibition of multiple oncogenic pathways. Moreover, we found that ABCG2 is involved in the
DOX signaling pathway. The small interfering RNA (siRNA) carried by magnetic nanoparticles
can reduce the expression of ABCG2, thereby significantly improving the therapeutic effect of
DOX on tumors.

Conclusion:
Our findings provide a more in-depth understanding of ABCG2 as a biomarker for
predicting DOX-resistance and insights into the development of related therapeutic targets in breast
cancer.
Natural Derived Nasal Spray; A Proposed Approach for COVID-19 Disease
Control
Authors: Hoseini-Tavassol Zahra , Ejtahed Hanieh-Sadat , Soroush Ahmad-Reza , Sajjadpour Zahra , Hasani-Ranjbar Shirin , Larijani Bagher 
Published: February 2021

Abstract:
Considering the importance of COVID-19 disease pandemic, emerged by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), in line with other studies to find appropriate prevention or treatment methods for this virus infection, proposing the use of natural derived ingredients as an approach for COVID-19 disease control was our study objective. Here we reviewed previous studies on natural derived nasal sprays and found that some known natural derived ingredients have antiviral properties, so their topical use as a nasal spray is effective in reducing the symptoms of respiratory infections, and it also has potential of decreasing viral load including titer of coronaviruses, in the nasal cavity. It seems that use of carrageenan or other herbal ingredients nasal spray may block the SARS-CoV-2 virus entering to the lung cells of a contaminated person and also can prevent virus transmission to other susceptible persons. Further, noticing what we know about novel 2019 coronavirus so far, we suggested carrageenan that has an unspecific physical antiviral activity and some other natural derived ingredients as a choice in coping with SARS-CoV-2 virus infection.
Improved Detection Performance of Energy Detection Based Spectrum Sensing in Cognitive Radio Networks
Authors: Sudhamani Chilakala , Saxena Ashutosh , Aswini Vunnava 
Published: February 2021

Background:
In cognitive radio networks, spectrum sensing plays an important role in identifying the underutilized
spectrum bands. Conventional spectrum sensing using energy detection method uses single detection threshold, which
degrades the detection performance.

Method:
Therefore double detection threshold has been proposed for spectrum sensing in the literature to improve the
detection performance, but the performance depends on the region between two thresholds termed as confusion state. Hence
to improve the overall detection performance new re-sensing scheme has been proposed in this paper by varying the difference
between thresholds by an improvement factor K.

Results:
The proposed method improves the detection performance compared to the single threshold method and double
threshold method.

Conclusion:
Simulation results show that the proposed method operates better than the single threshold energy detection
method and improves the detection performance at low signal to noise ratios.
The Antimalarial Drug Pyronaridine Inhibits Topoisomerase II in Breast Cancer Cells and Hinders Tumor Progression In Vivo
Authors: Villanueva Paulina J. , Gutierrez Denisse A , Contreras Lisett , Parra Karla , Segura-Cabrera Aldo , Varela-Ramirez Armando , Aguilera Renato J 
Published: February 2021

Background:
Breast cancer is the most frequently diagnosed cancer in women worldwide.
Pyronaridine (PND), an antimalarial drug, was shown to exert anticancer activity on seventeen
different human cancer cells, seven from female breast tissue. Additionally, PND induced
apoptosis via mitochondrial depolarization, alteration of cell cycle progression, and DNA intercalation.
However, the molecular target of PND in cells was not elucidated.

Objective:
Here, we have further investigated PND's mode of action by using transcriptome analysis.
Preclinical studies were also performed to determine whether PND could affect tumor progression
in a human breast cancer xenograft in mice. Moreover, we assessed the combined efficacy of
PND with well-known anticancer drugs.

Methods:
Transcriptome analyses of PND-treated cancer cells were performed. Topoisomerase II
activity was evaluated by an in vitro assay. In addition, daily oral administration of PND was given
to mice with human breast cancer xenografts. The differential nuclear staining assay measured in-
-vitro cell toxicity.

Results:
The transcriptome signatures suggested that PND might act as a topoisomerase II inhibitor.
Thus, topoisomerase inhibition assays were performed, providing evidence that PND is a bona
fide topoisomerase II inhibitor. Also, in-vivo studies suggest that PND hinders tumor progression.
Besides, combination studies of PND with anticancer drugs cisplatin and gemcitabine revealed
higher cytotoxicity against cancer cells than individual drug administration.

Conclusion:
The findings provide evidence that PND is a topoisomerase II inhibitor and can hinder
cancer progression in an animal model, further demonstrating PND's favorable characteristics
as a repurposed anticancer drug.
Social Representations of e-Mental Health Among the Actors of the Health Care System: Free-Association Study
Authors: Morgiève Margot , Mesdjian Pierre , Las Vergnas Olivier , Bury Patrick , Demassiet Vincent , Roelandt Jean-Luc , Sebbane Déborah 
Published: February 2021

BackgroundElectronic mental (e-mental) health offers an opportunity to overcome many challenges such as cost, accessibility, and the stigma associated with mental health, and most people with lived experiences of mental problems are in favor of using applications and websites to manage their mental health problems. However, the use of these new technologies remains weak in the area of mental health and psychiatry.ObjectiveThis study aimed to characterize the social representations associated with e-mental health by all actors to implement new technologies in the best possible way in the health system.MethodsA free-association task method was used. The data were subjected to a lexicometric analysis to qualify and quantify words by analyzing their statistical distribution, using the ALCESTE method with the IRaMuTeQ software.ResultsIn order of frequency, the terms most frequently used to describe e-mental health in the whole corpus are: “care” (n=21), “internet” (n=21), “computing” (n=15), “health” (n=14), “information” (n=13), “patient” (n=12), and “tool” (n=12). The corpus of text is divided into 2 themes, with technological and computing terms on one side and medical and public health terms on the other. The largest family is focused on “care,” “advances,” “research,” “life,” “quality,” and “well-being,” which was significantly associated with users. The nursing group used very medical terms such as “treatment,” “diagnosis,” “psychiatry”,” and “patient” to define e-mental health.ConclusionsThis study shows that there is a gap between the representations of users on e-mental health as a tool for improving their quality of life and those of health professionals (except nurses) that are more focused on the technological potential of these digital care tools. Developers, designers, clinicians, and users must be aware of the social representation of e-mental health conditions uses and intention of use. This understanding of everyone’s stakes will make it possible to redirect the development of tools to adapt them as much as possible to the needs and expectations of the actors of the mental health system.
Lingkar lengan atas, indeks massa tubuh, dan tinggi fundus ibu hamil sebagai prediktor berat badan lahir
Authors: Kurdanti Weni , Khasana Tri Mei , Wayansari Lastmi 
Published: February 2021

Upper arm circumference, body mass index, and fundal height of pregnant women to estimate birth weightBackground: Accuracy of estimated infant’s birth weight is one of the most important measurements at the beginning of labor. Some anthropometric measures of pregnant women are upper arm circumference (MUAC) as a screening tool for chronic energy deficiency, body mass index (BMI) for assessment of chronic energy deficiency status, and indicators of fundal height to estimate birth weight. However, many studies with varying results are related to the accuracy of estimated birth weight.Objective: The study aimed to compare the capacity of MUAC, BMI, and fundal height indicators in predicting birth weight.Methods: The type of research is a cross-sectional study carried out at the Sadewa Maternal and Child Hospital in Yogyakarta in June-August 2018 with a 376 sample. The independent variables were MUAC, BMI, and fundal height, and the dependent variable is birth weight. Bivariate analysis using Pearson correlation and AUC and ROC curve tests.Results: There is a relationship between BMI and the fundal height of pregnant women with birth weight. The AUC BMI value (AUC=0.519) was found to be the highest compared to the MUAC (AUC=0.496) and fundal height (AUC=0.466) measurements.Conclusions: Pre-pregnancy BMI had a better capacity for predicting birth weight than MUAC and fundal height.
Aplikasi Metode Aktivasi Fisika dan Aktivasi Kimia pada Pembuatan Arang Aktif dari Tempurung Kelapa (Cocos nucifera L)
Authors: Aryani Farida 
Published: February 2021

Kebutuhan arang aktif di Indonesia semakin meningkat, seiring dengan kemajuan teknologi dan industri di tanah air. Kebutuhan yang meningkat ini harus didukung pula oleh peneliti dan pengusaha yang berkecimpung dibidang arang aktif agar dapat memproduksi arang aktif yang bermutu baik dari segi kualitas maupun kuantitasnya. Dalam rangka mengembangkan metode pembuatan arang aktif dilaboratorium maka dilakukan penelitian pembuatan arang aktif dengan menggunakan dua metode aktivasi yaitu metode aktivaasi fisika dan metode aktivasi kimia. Tujuan dari penelitian ini adalah untuk mengetahui evektivitas dari metode aktivasi fisika dan kimia pada pembuatan arang aktif tempurung kelapa. Aktivasi fisika dilakukan dengan pembakaran pada suhu 500° C selama 4 jam, sedang aktivasi kimia dilakukan dengan melakukan perendaman menggunakan larutan NaOH 0,2 N selama 18 jam. Pengujian kualitas mengacu pada SNI 06-3730-1995 tentang syarat mutu dan pengujian arang aktif. Hasil Analisis arang aktif metode aktifasi fisika diperoleh rendemen sebesar 86.7%, kadar abu 8,46%, kadar air 6,0%, kadar zat mudah menguap 37,12%, dan daya serap iodium sebesar 555,32mg/g. Metode aktifasi kimia menghasilkan rendemen sebesar 63,7%, kadar abu 0,75%, kadar air 3,6%, kadar zat mudah menguap 35,06%, dan daya serap iodium sebesar 317,25mg/g.
Kalibrasi Spektrofotometer Sebagai Penjaminan Mutu Hasil Pengukuran dalam Kegiatan Penelitian dan Pengujian
Authors: Irawan Anom 
Published: February 2021

Kalibrasi menentukan perbedaan (deviasi) antara pembacaan alat ukur dengan bahan ukur (sebagai standar) dengan (taksiran) nilai benar. Tujuan kalibrasi spektrofotometer adalah untuk mengetahui nilai perbedaan dari pembacaan alat dengan membandingkan nilai standar, sehingga dapat menjamin data yang benar dan valid. Bahan standar/kalibrator untuk mengkalibrasi Spektrofotometer meliputi, akurasi panjang gelombang dengan Holmium oxide (liquid atau solid) dan Dydimium solid. Sedang untuk akurasi fotometri dengan bahan acuan K2Cr2O7 0,006% dalam larutan HClO4 0,001N (range lamda 235 nm-350 nm) dan K2Cr2O7 0,06% dalam larutan HClO4 0,001N (lamda 430 nm). Straylight dengan larutan KCl 1,2%. Daya pisah/ Resulotion menggunakan larutan Toluen dalam Heksan 0,02%. Linieritas Detektor menggunakan larutan komlpeks standar Phospat untuk dibuat kurva baku. Hasil kegiatan kalibrasi Spektrophotometer Shimadzu UV 1800 yaitu Akurasi panjang gelombang dengan Holmium oxide pada lamda yang ditentukan tidak terjadi pergeseran puncak dengan toleransi ±1 nm rentang UV dan ±3 nm visible (Pharmacopeia Eropa). Akurasi Fotometri dengan larutan K2Cr2O7 0,006% dalam HClO4 0,001 N nilai absorbansi masih dalam range. Toleransi absorbansi adalah ±0,01 dari pembacaan alat terhadap nilai sertifikat standar. Pengukuran Straylight dengan Larutan KCl 1,2% pada lamda 198 nm memberikan nilai absorbansi >2. Pengukuran Resolution dengan larutan Tolluen dalam Hexan antara panjang gelombang 268,7 nm dengan 267,0 nm memberikan nilai absorbansi yang berbeda. Nilai perbedaan >- 1,5 (Pharmacopeia Eropa). Kalibrasi Spektrofotometer Shimadzu UV 1800 di LPPT UGM, nilai pengukuran yang di dapat dan di bandingkan dengan nilai standar masih masuk dalam toleransi, sehingga alat masih valid digunakan dalam kegiatan penelitian dan pengujian sampel di LPPT UGM.
Air Limbah Air Conditioner (AC) Sebagai Alternatif Pengganti Pelarut Akuades pada Proses Analisis Total Asam pada Salak Pondoh (Salaca edulis)
Authors: Sumarwanto Padya , Hartati Yuni , Irfan Mukhamad 
Published: February 2021

Kondensasi atau pengembunan dari Air Conditioner (AC) kantor atau laboratorium berupa air, biasanya ditampung ke dalam wadah jerigen atau bahkan dibiarkan menetes di tempat terbuka. Laboratorium Pangan dan Gizi Fakultas Teknologi Pertanian selalu menggunakan AC, sehingga air AC yang terkondensasi di tampung dalam jerigen ternyata air yang dihasilkan cukup banyak untuk setiap harinya. Air ini cukup jernih mirip dengan akuades, sehingga kemungkinan bisa digunakan sebagai pelarut ataupun pengencer dalam analisis total asam pada salak pondoh (Salacca edulis)Tujuan penelitian ini untuk memanfaatkan air AC sebagai pengganti air akuades dalam proses analisis total asam dengan metode titrasi. Adapun parameter yang diukur meliputi : Total asam, pH, dan berat jenis terhadap air kondensasi AC dengan akuades.Sebagai pembanding digunakan akuades. Berdasarkan hasil analisis yang diperoleh,berat jenis air AC sebesar 1.006 + 0.001 sedangkan akuades sebesar 1.0152 + 0.0001 kg. m3. Keasaman air AC senbesar 6.28 + 0.01. Sedangkan akuades sebesar 6,8267 + 0.02. Hasil analisis total asam (dihitung sebagai asam tanat) pada salak pondoh (Salacca edulis) dengan pelarut AC sebesar 6,8182 % + 0.02 . Sedangkan dengan pelarut akuades sebesar 6,8237 + 0.007. Dari hasil analisis menunjukkan bahwa menggunakan air AC sebagai pelarut bisa digunakan untuk analisis total asam.