bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characterization of a Novel Pathogenic Mutation Causing Mitochondrial Neurogastrointestinal Encephalopathy
Authors: Habibzadeh Parham , Silawi Mohammad , Dastsooz Hassan , Bahramjahan Shima , Jahromi Shahrokh Ezzatzadegan , Ostovan Vahid Reza , Yavarian Majid , Mofatteh Mohammad , Faghihi Mohammad Ali 
Published: April 2019

Abstract
Background

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP). MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabsorption syndrome, inflammatory bowel disease, anorexia nervosa, and intestinal pseudo-obstruction. Up to date, more than 80 pathogenic and likely pathogenic mutations associated with the disease have been reported in patients from a wide range of ethnicities. The objective of this study was to investigate the underlying genetic abnormalities in a 25-year-old woman affected with MNGIE.

Case Presentation

The patient was a 25-year-old female referred to our center with the chief complaint of severe abdominal pain and diarrhea for two years that had worsened from two months prior to admission. The clinical and para-clinical findings were in favor of mitochondrial neurogastrointestinal encephalopathy syndrome. Subsequent genetic studies revealed a novel, private, homozygous nonsense mutation in TYMP gene (c. 1013 C>A, p.S338X). Sanger sequencing confirmed the new mutation in the proband. Multiple sequence alignment showed high conservation of amino acids of this protein across different species.

Conclusion

The detected new nonsense mutation in the TYMP gene would be very important for genetic counseling and subsequent early diagnosis and initiation of proper therapy. This novel pathogenic variant would help us establish future genotype-phenotype correlations and identify different pathways related to this disorder.
Expression and Significance of Th17 Cells and Related Factors in Patients with Autoimmune Hepatitis
Authors: An Jihong 
Published: April 2019

Objective:
This study aims to investigate the expression and clinical significance of
Th17 cells and related factors in peripheral blood of patients with Autoimmune Hepatitis (AIH).

Methods:
A retrospective selection of 100 patients with AIH were included as a study group, and
100 healthy volunteers in the outpatient clinic were selected as the control group. The levels of IL-
17, IL-6, IL-21 and TNF-α in peripheral blood of all subjects were detected by enzyme-linked
immunosorbent assay and the frequency of Th17 cells and Treg cells was detected by flow
cytometry.

Results:
Results showed that the study group had higher levels of serum total bilirubin (TBil),
alkaline phosphatase (ALP), γ -glutamyltranspeptidase (γ-GT), immunoglobulin G (IgG),
immunoglobulin M (IgM), alanine aminotransferase (ALT) and aspartate aminotransferase (AST)
than the control group, as well as higher levels of IL-17, IL-6, IL-21 and TNF-α in serum. The
frequency of Th17 cells in peripheral blood was higher in the study group, while the frequency of
Treg cells was lower. Also, serum IL-17, TNF-α levels and Th17 cells frequency were positively
correlated with ALT and AST, whereas Treg cells frequency were negatively correlated with ALT
and AST levels.

Conclusion:
Our finding demonstrates that Th17 cell frequency and their related factors IL-17 and
TNF-α, are associated with liver damage, which might be used to monitor AIH disease severity.
Privacy Protection of Patient Medical Images using Digital Watermarking Technique for E-healthcare System
Authors: Sivaprakash Asokan , Rajan Samuel Nadar Edward , Selvaperumal Sundaramoorthy 
Published: April 2019

Background:
Privacy protection has been a critical issue in the delivery of medical images
for telemedicine, e-health care and other remote medical systems.

Objective:
The aim of this proposed work is to implement a secure, reversible, digital watermarking
technique for the transmission of medical data remotely in health care systems.

Methods:
In this research work, we employed a novel optimized digital watermarking scheme using
discrete wavelet transform and singular value decomposition using cuckoo search algorithm
based on Lévy flight for embedding watermark into the grayscale medical images of the patient.
The performance of our proposed algorithm is evaluated on four different 256 × 256 grayscale host
medical images and a 32 × 32 binary logo image.

Results:
The performance of the proposed scheme in terms of peak signal to noise ratio was remarkably
high, with an average of 55.022dB compared to other methods.

Conclusion:
Experimental results reveal that the proposed method is capable of achieving superior
performance compared to some of the state-of-art schemes in terms of robustness, security and
high embedding capacity which is required in the field of telemedicine and e-health care system.
Evaluation of New 99mTc(CO)3 + Radiolabeled Glycylglycine In Vivo
Authors: Şenışık Ahmet M. , İçhedef Çiğdem , Kılçar Ayfer Y. , Uçar Eser , Arı Kadir , Parlak Yasemin , Bilgin Elvan S. , Teksöz Serap 
Published: April 2019

Background:
Peptide-based agents are used in molecular imaging due to their unique properties, such as
rapid clearance from the circulation, high affinity and target selectivity. Many of the radiolabeled peptides have
been clinically experienced with diagnostic accuracy. The aim of this study was to investigate in vivo biological
behavior of [99mTc(CO)3(H2O)3]+ radiolabeled glycylglycine (GlyGly).

Methods:
Glycylglycine was radiolabeled with a high radiolabeling yield of 94.69±2%, and quality control of the
radiolabeling process was performed by thin layer radiochromatography (TLRC) and High-Performance Liquid
Radiochromatography (HPLRC). Lipophilicity study for radiolabeled complex (99mTc(CO)3-Gly-Gly) was carried
out using solvent extraction. The in vivo evaluation was performed by both biodistribution and SPECT imaging.

Results:
The high radiolabelling yield of 99mTc(CO)3-GlyGly was obtained and verified by TLRC and HPLRC as
well. According to the in vivo results, SPECT images and biodistribution data are in good accordance. The
excretion route from the body was both hepatobiliary and renal.

Conclusion:
This study shows that 99mTc(CO)3-GlyGly has the potential to be used as a peptide-based imaging
agent. Further studies, 99mTc(CO)3-GlyGly can be performed on tumor-bearing animals.
Transcriptome Analysis of mRNA in Uterine Leiomyoma Using Next-generation RNA Sequencing
Authors: Anjum Shadab , Sahar Tahreem , Nigam Aruna , Wajid Saima 
Published: April 2019

Background:
Uterine leiomyoma is a benign smooth muscle tumor of monoclonal nature in the
female reproductive tract and is one of the major health problems. More than 70% of the female population
suffers from uterine leiomyoma in their lifetime and in the advanced condition, it is associated with pregnancy
complications and infertility.

Objective:
Characterization and relative expression of mRNA transcripts through transcriptome profiling in
uterine leiomyoma and adjacent normal myometrium.

Methods:
Uterine leiomyoma tissue of an Indian female, age 32 years, with a family history of leiomyoma
(evident from mother’s hysterectomy for the same pathology) was used. Patient showed 9 multiple large lesions
appearing heterogeneously, deforming the uterine contour and causing distortion and splaying of the endometrial
cavity showing disease aggressiveness was taken for Next-generation sequencing (NGS) to develop
whole transcriptome profile along with the adjacent normal myometrium as control. The validation of the
relative expression of the selective transcripts was done using Real-Time PCR.

Results:
The transcriptome profile indicated 128 genes up-regulated and 98 down-regulated, with the Log2 fold
change ≥ 2 and P ≤ 0.05, highlighting the molecular network closely associated with focal adhesion, hyaluronan
and MAPK-signaling pathways. The mean relative fold change obtained from quantitative PCR as well as the
P-values of 10 selected transcripts evaluated from student’s t-test were as follows: BCAN: 7.93 fold (p-value
=0.0013); AAK1: 2.2 fold (p-value =0.0036); PCBP3: 3.4 fold (p-value =0.0197); MOV10L1: 3.4 fold (p-value
=0.0062); TWISTNB: 1.8 fold (p-value =0.006); TMSB15A: 2.1 fold (p-value =0.0023); SMAD1: 0.8 fold
(p-value =0.0112); ANXA1: 0.6 fold (p-value =0.0012); FOS: 0.6 fold (p-value =0.0191); SLFN11: 0.56 fold
(p-value =0.0001).

Conclusion:
The present study provides a roadmap, towards the analysis of genes and their roles in corresponding
pathways throwing light on their possible involvement in the pathology of the disease.
Targeting Macrophage for the Treatment of Amyotrophic Lateral Sclerosis
Authors: Li Lian , Liu Jie , She Hua 
Published: April 2019

Background & Objective:Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that specifically affects motor neurons in the brain and in the spinal cord. Patients with amyotrophic lateral sclerosis usually die from respiratory failure within 3 to 5 years from when the symptoms first appear. Currently, there is no cure for amyotrophic lateral sclerosis. Accumulating evidence suggests that dismantling of neuromuscular junction is an early event in the pathogenesis of amyotrophic lateral sclerosis.Conclusion:It is starting to realized that macrophage malfunction contributes to the disruption of neuromuscular junction. Modulation of macrophage activation states may stabilize neuromuscular junction and provide protection against motor neuron degeneration in amyotrophic lateral sclerosis.
A Clinical and Magnetic Resonance Imaging Assessment of Anterior Cruciate Ligament Reconstruction with Different Fixation Techniques Using Gracilis and Semitendinosus Autograft
Authors: Apostolopoulos Ioannis , Pneumaticos Spyros , Korres Dimitrios , Markatos Konstantinos , Andreakos Anastasios 
Published: April 2019

Background:Hamstring tendons are widely used in anterior cruciate ligament reconstruction. Improvements in fixation materials have increased the success of the reconstruction procedures using this type of graft. The main advantage of the hamstring tendon autograft is the lower donor site morbidity associated with its harvesting. On the other hand, tunnel widening is reported more frequently with the use of hamstring tendon autograft compared to patellar or quadriceps tendons. The objective of the present study was to evaluate three different fixation techniques at a minimum of 2 years after Anterior Cruciate Ligament (ACL) reconstruction using gracilis and semitendinosus autograft.Methods:Between February 2012 and March 2016, 112 ACL reconstructions using double looped semitendinosus and gracilis graft were performed. Patients were divided into 3 groups in a randomized fashion. 98 patients were followed up for 2 years. In the first group (43 patients), suspensory fixation using Retrobutton (Arthrex, Inc, Naples, Florida) was used. In the second group (30 patients), transcondylar graft fixation Bio-Transfix (Arthrex, Naples, Florida) was performed, and in the third group (25 patients), aperture fixation using AperFix (Cayenne Medical, Scottdale, Arizona, Biomet) was performed. Clinical evaluation was performed using the International Knee Documentation Committee (IKDC) form, Lysholm knee and Tegner activity level scores, as well as arthometer measurements. Tunnel enlargement and graft integrity were evaluated using Magnetic Resonance Imaging (MRI) at 6, 12 and 24 months.Results:Ten patients were completely lost to follow up, and four had undergone a revision ACL reconstruction before the two-year follow up period, leaving 98 patients for analysis. No statistically significant differences between the three groups were noted other than that the first group tended to have more tunnel enlargement than the other two groups, especially at the femoral tunnel (p=.026), but not at the tibial tunnel (p>0.408). Our results showed that almost 90% of the patients in the three groups had functionally normal or near normal IKDC, Lysholm and Tegner scores.Conclusion:The three different techniques yielded equal results as regards improved patient performance. The functional results as well as knee stability tests were not related with tunnel enlargement, at least in the short term.
HIV INFECTION AND COMMUNITYACQUIRED PNEUMONIA. CAUSES OF DEATH
Authors: Borodulina E. A. , Vdoushkina E. S. , Borodulin B. E. , Povalyaeva L. V. 
Published: April 2019

The aim was to study the characteristics of community-acquired pneumonia in patients with HIV infection, depending on the outcome of the disease and to identify significant predictors of death. Materials and methods. The study included 80 patients with community-acquired pneumonia and HIV-infection. Two groups were formed in accordance with the outcome of community-acquired pneumonia. 1 group (study group) — 40 deceased patients, 2 group (comparison group) — 40 patients discharged from the hospital with improvement. Inclusion criteria: patients over 18 years of age, diagnosis of community-acquired pneumonia, diagnosis of HIV infection, informed consent of the patient. Patients with diagnosed pulmonary tuberculosis were excluded at the stage of examination and treatment. Results. Patients with HIV infection entered the hospital with community-acquired pneumonia of severe degree in 65% of cases, 71,25% of cases with respiratory insufficiency of II and III degrees, in 16,25% of cases with critically low oxygen saturation (less than 85%). The majority of patients had bilateral pneumonia (78,75%), in 28,75% of cases complicated by pleural effusion. Patients needed respiratory support at different levels-the chambers of the pulmonology ward in 3625% of cases, indications for noninvasive ventilation (NIV) in the intensive care unit (ICU) were noted in 80% of cases, ventilation in the ICU in 56,25% of cases. Deceased patients were significantly more likely to be injecting drug users, reported weight loss of more than 10% in six months, CD4+ cells did not exceed 50/μl, bilateral lung damage, pleural effusion, oxygen saturation less than 90%. The conclusion. Treatment and diagnosis of comorbid patients with community-acquired pneumonia and HIV infection is complex, in the stage of pronounced immunosuppression can lead to death. Early onset of NIV in the presence of severe respiratory failure may improve the survival prognosis.
The Baby Hearts Study – a case-control methodology with data linkage to evaluate risk and protective factors for congenital heart disease
Authors: McCullough Nichola , Dolk Helen , Loane Maria , Lagan Briege M , Casey Frank , Craig Brian 
Published: April 2019

IntroductionThe Baby Hearts study aimed to investigate risk and protective factors for congenital heart disease (CHD), and to investigate the health behaviours of a representative sample of pregnant women in Northern Ireland.
ObjectivesWe describe and evaluate the population-based case-control design enhanced with data linkage to administrative health data.
MethodsCases (mothers of babies with CHD, n=286) were recruited following diagnosis prenatally or postnatally. Controls (mothers of babies without CHD, n=966) were recruited at 18-22 weeks gestation, from all women attending each maternity unit during a designated month. Hybrid data collection methods were used, including a self-administered iPad/postal questionnaire, and linkage to maternity and prescription records.
ResultsRefusal rates were low (8%). iPad questionnaire completion at clinic or home visit had high acceptability whereas postal questionnaires were poorly returned leading to a further 9-10% loss of eligible cases/controls. In total, 61% of eligible cases and 68% of eligible controls were recruited, closely representative of the Northern Ireland population, with no evidence of selection bias. Of those recruited, 97% gave consent for linkage to medical records. Thirty-three percent of women had an unplanned pregnancy and 76% suspected they were pregnant by 5 weeks gestation, with no significant differences between cases and controls. There was considerable discordance between self-report, maternity and prescription records regarding medications obtained/taken in the first trimester, but no evidence of differences between cases and controls that would indicate substantial recall bias. Although there was high concordance between self-report and maternity records regarding folic acid supplementation, cases had significantly lower concordance than controls.
ConclusionsOur results suggest hybrid data collection approaches are a useful way forward for aetiological studies to reduce responder burden and address and estimate recall bias, and that the Baby Hearts study protocol is suitable for replication in other populations, modified to the local context.
On Calculation of the First Integrals for Three-dimensional ODE Systems
Authors: Kavinov A. V. 
Published: April 2019

The search for solutions of nonlinear stationary systems of ordinary differential equations (ODE) is sometimes very complicated. It is not always possible to obtain a general solution in an analytical form. As a consequence, a qualitative theory of nonlinear dynamical systems has been developed. Its methods allow us to investigate the properties of solutions without finding a general solution. Numerical methods of investigation are also widely used.In the case when it is impossible to find an analytically general solution of the ODE system, sometimes, nevertheless, it is possible to find its first integral. There is a number of known results that make it possible to obtain the first integral for certain special cases.The article deals with the method for obtaining the first integrals of ODE systems of the third order, based on the fact of integrability of the involutive distribution.The method proposed in the paper allows us to obtain the first integral of a nonlinear ODE system of the third order in the case when a vector field, which generates an involutive distribution of dimension 2 together with the vector field of the right-hand side of a given ODE system, is known. In this case, the solution of a certain sequence of Cauchy problems allows us to construct a level surface of the function of the first integral containing the given point of the state space of the system. Using the method of least squares, in a number of cases it is possible to obtain an analytic expression for the first integral.The article gives examples of the method application to two ODE systems, namely to a simple nonlinear third-order system and to the Lorentz system with special parameter values. The article shows how the first integrals can be obtained analytically using the method developed for the two systems mentioned above.
Oblique Derivative Problem Solution for the Lavrentyev-Bitsadze Equation in a Half-Plane
Authors: Kopaev A. V. 
Published: April 2019

The paper solves the boundary value problem of an oblique derivative for the Lavrent'ev – Bitsadze equation in a half-plane. The Lavrent'ev – Bitsadze equation is an equation of mixed (elliptic-hyperbolic) type. Mixed-type equations arise when solving many applied problems (for example, when simulating transonic flows of a compressible medium).In the paper, the domain of ellipticity is a half-plane, and that of hyperbolicity is its adjacent strip. On one of the straight lines bounding the strip, an oblique derivative is specified (in the direction that forms an acute angle with this straight line), and on the other straight line, which is the interface between the strip and the half-plane, the solutions are matched by boundary conditions of the fourth kind. In the hyperbolicity strip, the solution is represented by the d'Alembert formula, and in the half-plane, where the equation is elliptic, the bounded solution is represented by the Poisson integral with unknown density. For this unknown density of the Poisson integral, a singular integral equation is obtained, which is reduced to the Riemann boundary value problem with a shift for holomorphic functions. The solution of the Riemann problem is reduced to the solution of two functional equations. Solutions of these functional equations and the Sokhotsky formula for an integral of Cauchy type allowed us to find the unknown density of the Poisson integral. This allowed us to find a solution to the oblique derivative problem as the sum of a functional series (up to an arbitrary constant term).
Social facilitation between commercial broilers and Nigerian indigenous chicks and its effect on their welfare
Authors: Iyasere Oluwaseun Serah , Oyeniran Victor Juwon , Oyawale Oluwatobiloba , Adeniyi Deborah , Uyanga Victoria Anthonia 
Published: April 2019

Abstract
This study was undertaken to investigate how social facilitation between two chicken breeds could affect their welfare. Sixty chicks each of a commercial broiler (CB) and Nigerian indigenous chicken (NIC) breed were used for this study. At four days of age, the birds were randomly assigned into three treatments namely: T1 – singlestrain CB (10 birds), T2 – single-strain NIC (10 birds) and T3 – mixed-strain (5 CB and 5 NIC) each having three replicates. Feed intake and weight gain were measured from the 1st to the 4th week of age. Behavioural observations were undertaken between 09:00 h – 10:00 h for three consecutive days per week from the 2nd to 7th week of age. At the end of the 7th week, six birds per treatment were randomly selected for test of fear (tonic immobility) and level of stress (heterophil/lymphocyte ratio, H:L). Data collected were subjected to multivariate analysis using SPSS (version 21). A higher percentage (P < 0.05) of the CB displayed feeding, drinking and sitting compared to the NIC. However, higher percentage (P < 0.05) of the NIC displayed preening, foraging and standing behaviours compared to the CB. The percentage of birds drinking was greater in the mixed-strain (MS) compared to single-strain (SS). Also, there was a significant difference (P < 0.05) in breed × flock structure (FS) interaction on feeding and sitting behaviours specifically for NIC, where the percentage of NIC feeding was greater in the MS compared to SS. However, percentage of NIC sitting was greater (P < 0.05) in the SS compared to MS. CB were more fearful (P < 0.05) than NIC and chickens in the MS were less fearful (P < 0.05) compared to SS. The level of fear was reduced (P < 0.05) in the CB and NIC reared in MS compared to SS. H:L ratio was similar in CB and NIC reared either as SS or MS. Feed intake followed this trend T1 > T3 > T2. CB gained more weight compared to NIC. Body weight gain was similar in the SS compared to MS. In conclusion, MS management system had a positive influence on the welfare of both breeds.