scholarly journals Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia

Neurology ◽  
2019 ◽  
Vol 93 (2) ◽  
pp. e116-e124 ◽  
Author(s):  
Brice Marty ◽  
Gilles Naeije ◽  
Mathieu Bourguignon ◽  
Vincent Wens ◽  
Veikko Jousmäki ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Disease Duration ◽  
Friedreich Ataxia ◽  
Rank Correlation ◽  
Specific Marker ◽  
Healthy Controls ◽  
Triplet Expansion ◽  
Afferent Inputs ◽  
Genetically Determined ◽  
Spearman Rank Correlation Test

ObjectiveTo assess with magnetoencephalography the developmental vs progressive character of the impairment of spinocortical proprioceptive pathways in Friedreich ataxia (FRDA).MethodsNeuromagnetic signals were recorded from 16 right-handed patients with FRDA (9 female patients, mean age 27 years, mean Scale for the Assessment and Rating Of ataxia [SARA] score 22.25) and matched healthy controls while they performed right finger movements either actively or passively. The coupling between movement kinematics (i.e., acceleration) and neuromagnetic signals was assessed by the use of coherence at sensor and source levels. Such coupling, that is, the corticokinematic coherence (CKC), specifically indexes proprioceptive afferent inputs to the contralateral primary sensorimotor (cSM1) cortex. Nonparametric permutations and Spearman rank correlation test were used for statistics.ResultsIn both groups of participants and movement conditions, significant coupling peaked at the cSM1 cortex. Coherence levels were 70% to 75% lower in patients with FRDA than in healthy controls in both movement conditions. In patients with FRDA, coherence levels correlated with genotype alteration (i.e., the size of GAA1 triplet expansion) and the age at symptom onset but not with disease duration or SARA score.ConclusionThis study provides electrophysiologic evidence demonstrating that proprioceptive impairment in FRDA is mostly genetically determined and scarcely progressive after symptom onset. It also positions CKC as a reliable, robust, specific marker of proprioceptive impairment in FRDA.

scholarly journals Deregulation of lncRNA HIST1H2AG-6 and AIM1-3 in peripheral blood mononuclear cells is associated with newly diagnosed type 2 diabetes

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Hui Jiang ◽  
Peian Lou ◽  
Xiaoluo Chen ◽  
Chenguang Wu ◽  
Shihe Shao
Keyword(s):  
Roc Curve ◽  
Multivariate Logistic Regression Analysis ◽  
Rank Correlation ◽  
Differentially Expressed ◽  
Healthy Controls ◽  
Biological Functions ◽  
Multivariate Logistic Regression ◽  
Spearman’S Rank Correlation ◽  
Spearman’S Rank Correlation Coefficient

Abstract Background Type 2 diabetes mellitus (T2DM) is mainly affected by genetic and environmental factors; however, the correlation of long noncoding RNAs (lncRNAs) with T2DM remains largely unknown. Methods Microarray analysis was performed to identify the differentially expressed lncRNAs and messenger RNAs (mRNAs) in patients with T2DM and healthy controls, and the expression of two candidate lncRNAs (lnc-HIST1H2AG-6 and lnc-AIM1-3) were further validated using quantitative real-time polymerase chain reaction (qRT-PCR). Spearman’s rank correlation coefficient was used to measure the degree of association between the two candidate lncRNAs and differentially expressed mRNAs. Furthermore, the KEGG (Kyoto Encyclopedia of Genes and Genomes) pathway and GO (Gene Ontology) enrichment analysis were used to reveal the biological functions of the two candidate lncRNAs. Additionally, multivariate logistic regression analysis and receiver operating characteristic (ROC) curve analysis were performed. Results The microarray analysis revealed that there were 55 lncRNAs and 36 mRNAs differentially expressed in patients with T2DM compared with healthy controls. Notably, lnc-HIST1H2AG-6 was significantly upregulated and lnc-AIM1-3 was significantly downregulated in patients with T2DM, which was validated in a large-scale qRT-PCR examination (90 controls and 100 patients with T2DM). Spearman’s rank correlation coefficient revealed that both lncRNAs were correlated with 36 differentially expressed mRNAs. Furthermore, functional enrichment (KEGG and GO) analysis demonstrated that the two lncRNA-related mRNAs might be involved in multiple biological functions, including cell programmed death, negative regulation of insulin receptor signal, and starch and sucrose metabolism. Multivariate logistic regression analysis revealed that lnc-HIST1H2AG-6 and lnc-AIM1-3 were significantly correlated with T2DM (OR = 5.791 and 0.071, respectively, both P = 0.000). Furthermore, the ROC curve showed that the expression of lnc-HIST1H2AG-6 and lnc-AIM1-3 might be used to differentiate patients with T2DM from healthy controls (area under the ROC curve = 0.664 and 0.769, respectively). Conclusion The profiles of lncRNA and mRNA were significantly changed in patients with T2DM. The expression levels of lnc-HIST1H2AG-6 and lnc-AIM1-3 genes were significantly correlated with some features of T2DM, which may be used to distinguish patients with T2DM from healthy controls and may serve as potential novel biomarkers for diagnosis in the future.

scholarly journals SAT0077 CARDIOVASCULAR RISK ASSESSMENT WITH CAROTID ULTRASONOGRAPHY IN ADDITION TO THE TRADITIONAL CARDIOVASCULAR RISK FACTORS IN RHEUMATOID ARTHRITIS PATIENTS: A CASE CONTROL STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 973-973
Author(s):  
R. Gonzalez Mazario ◽  
J. J. Fragio-Gil ◽  
P. Martinez Calabuig ◽  
E. Grau García ◽  
M. De la Rubia Navarro ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Risk Factor ◽  
Cardiovascular Risk ◽  
Disease Duration ◽  
Case Control Study ◽  
Case Control ◽  
Healthy Controls ◽  
Carotid Ultrasonography ◽  
Control Study

Background:Cardiovascular disease (CV) is the most frequent cause of death in rheumatoid arthritis (RA) patients. It is well known that RA acts as an independent cardiovascular risk factor.Objectives:To assess the CV risk in RA patients using carotid ultrasonography (US) additionally to the traditional CV risk factors.Methods:A prospective transversal case control study was performed, including adult RA patients who fulfilled ACR/EULAR 2010 criteria and healthy controls matched according to CV risk factors. Population over 75 years old, patients with established CV disease and/or chronic kidney failure (from III stage) were excluded. The US evaluator was blinded to the case/control condition and evaluated the presence of plaques and the intima-media thickness. Statistical analysis was performed with R (3.6.1 version) and included a multivariate variance analysis (MANOVA) and a negative binomial regression adjusted by confounding factors (age, sex and CV risk factors).Results:A total of 200 cases and 111 healthy controls were included in the study. Demographical, clinical and US data are exposed in table 1. Not any difference was detected in terms of CV risk factors between the cases and controls. In both groups a relationship between age, BMI and high blood pressure was detected (p<0.001).Table 1.Table 2.RA basal characteristicsDisease duration (years)16,98 (11,38)Erosions (X-Ray of hands/feet)163 (81,5%)Seropositive (RF/anti-CCP)146 (73%)Extra-articular symptoms44 (22%)Intersticial difusse lung disease10 (5%)Rheumatoid nodules14 (7%)Prednisone use103 (51,5%)Median dose of Prednisone last year (mg)2,34 (2,84)sDMARDsMethotrexate104 (52%)Leflunomide29 (14,5%)Hydroxycloroquine9 (4,5%)bDMARDs89 (44,5%) TNFi41 (20,5%) Abatacept15 (7,5%) IL6i22 (11%) RTX11 (5,5%)JAKi26 (13%) Baricitinib11 (5,5%) Tofacitinib15 (7,5%)DAS 28-ESR3,1 (2,3, 3,9)SDAI7,85 (4,04, 13,41)HAQ0,88 (0,22, 1,5)RF (U/mL)51 (15, 164,25)Anti-CCP (U/mL)173 (22, 340)Patients showed higher intima-media (both right and left) thickness compared to controls (p<0.006). Moreover it was also related to the disease duration and DAS28 score (p<0.001). A higher plaque account was noted in cases(p<0.004) and it was also related to the disease duration (p<0.001).Conclusion:RA implies a higher CV risk. Traditional CV risk factors explains only partially the global risk. These findings support that RA acts as an independent cardiovascular risk factor.Disclosure of Interests:None declared

scholarly journals FOXP3+T Regulatory Cell Modifications in Inflammatory Bowel Disease Patients Treated with Anti-TNFαAgents

2013 ◽  
Vol 2013 ◽  
pp. 1-10 ◽  
Author(s):  
Luisa Guidi ◽  
Carla Felice ◽  
Annabella Procoli ◽  
Giuseppina Bonanno ◽  
Enrica Martinelli ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Inflammatory Bowel Disease ◽  
Flow Cytometry ◽  
Bowel Disease ◽  
Peripheral Blood ◽  
Disease Duration ◽  
Healthy Controls ◽  
T Regulatory Cell ◽  
Inflammatory Bowel ◽  
Necrosis Factor

Treg modulation has been hypothesized as one of the mechanisms by which antitumor necrosis factorα(TNFα) agents exert their action in rheumatoid arthritis (RA) and inflammatory bowel disease (IBD). However, data in IBD are still conflicting. We evaluated CD4+CD25+FOXP3+(Tregs) by flow cytometry in peripheral blood from 32 adult IBD patient before (T0) and after the induction of anti-TNFαtherapy (T1). Eight healthy controls (HCs) were included. We also evaluated the number of FOXP3+cells in the lamina propria (LP) in biopsies taken in a subset of patients and controls. Treg frequencies were significantly increased in peripheral blood from our patients after anti-TNFαtherapy compared to T0. T1 but not T0 levels were higher than HC. The increase was detectable only in clinical responders to the treatment. A negative correlation was found among delta Treg levels and the age of patients or disease duration and with the activity score of Crohn’s disease (CD). No significant differences were found in LP FOXP3+cells. Our data suggest the possibility that in IBD patients the treatment with anti-TNFαmay affect Treg percentages and that Treg modifications may correlate with clinical response, but differently in early versus late disease.

scholarly journals The Correlation between Characteristics, Knowledge and Motivation of Couples in Childbearing Age with the Early Detection of Cervical Cancer in Ulin General Hospital Banjarmasin

2020 ◽  
Vol 2 (1) ◽  
pp. 1-7
Author(s):  
Anggrita Sari ◽  
Ika Mardiatul Ulfa ◽  
Dewi Pusparani Sinambela
Keyword(s):  
Cervical Cancer ◽  
Early Detection ◽  
General Hospital ◽  
Pap Smear ◽  
Rank Correlation ◽  
Childbearing Age ◽  
Cross Sectional ◽  
Pap Smear Test ◽  
Education And Employment ◽  
Spearman Rank Correlation Test

Cervical cancer is a malignant tumor that grows in the cervix and often attack women. In Indonesia cervical cancer is the number one killer of all cancers. So early detection is very important. The incidence of cancer from year to year has been increasing significantly. On the contrary, the coverage of pap smear test has been decreasing. The aims are to determine the correlation of characteristics (age, education, and employment), knowledge and motivation and early detection of cervical cancer in couples of childbearing age in patients of Ulin General Hospital Banjarmasin. This type of research is analytic survey with cross sectional. The population is all couples of childbearing age who visit in obstetrics policlinic in Ulin General Hospital Banjarmasin. Sampling method was done by accidental sampling using a sample size of 30 people. Analysis using the spearman rank correlation test with 95% confidence value. Results find no correlation between age and early detection of cervical cancer (p=0,264>α=0,05), a correlation between education and early detection of cervical cancer (p=0,001<α=0,05), a correlation between employment with early detection of cervical cancer (p=0,003<α=0,05), no correlation between knowledge with the early detection of cervical cancer (p=0,425>α=0,05)), no correlation between motivation with the early detection of cervical cancer (p=0,264>α=0,05).

scholarly journals Association of Thiol–disulfide Homeostasis with Retinal Layer Thickness in Patients with Diabetes Mellitus

2021 ◽  
Author(s):  
Muhammet Cuneyt Bilginer ◽  
Abbas Ali Tam ◽  
Berna Evranos Ogmen ◽  
Bagdagul Yuksel Guler ◽  
Nagihan Ugurlu ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetic Retinopathy ◽  
Layer Thickness ◽  
Disease Duration ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Control Group ◽  
Retinal Layer ◽  
Healthy Controls ◽  
Total Thiol

Abstract Background: This study aimed to investigate the relationship between early changes in retinal layer thickness and thiol–disulfide homeostasis in patients with type II diabetes mellitus (T2DM).Materials-Methods: There were 69 patients with T2DM (61 patients without retinopathy, 8 patients with retinopathy) and 21 healthy controls. In patients without retinopathy, 31 of the patients had a disease duration under 10 years, 30 of the patients had a disease duration over 10 years. Retinal layer thickness of the right eye was measured using Spectral Domain Optical Coherence Tomography. Results: Patients with T2DM and healthy controls had mean ages of 48.40 ± 8.25 years and 45.94 ± 7.32 years, respectively. The ganglion cell layer and retinal pigment epithelium thicknesses were significantly lesser in patients without diabetic retinopathy than those in the control group. In patients without diabetic retinopathy and with a disease duration of under 10 years, there was a negative correlation between the retinal nerve fiber layer thickness (µm) and disulphide/total thiol ratio, between the inner nuclear layer thickness (µm) and disulphide/native thiol ratio as well as disulphide/total thiol ratio (r= −0.376, p= 0.037; r= −0.356, p= 0.050; r= −0.380, p= 0.035, respectively) and positive correlation between the INL thickness (µm) and native thiol/total thiol ratio (r= 0.359, p= 0.047).Conclusion: Early changes in retinal layers in patients with DM were associated with thiol–disulfide homeostasis. Administration of therapeutic supplements may aid in the management of low thiol concentrations; this increases the importance of the study findings.

scholarly journals FAKTOR-FAKTOR YANG BERHUBUNGAN DENGAN PERILAKU IBU RUMAH TANGGA NELAYAN DALAM MENGGUNAKAN MEDIA MASSA SEBAGAI SUMBER INFORMASI

2009 ◽  
Vol 8 (2) ◽  
pp. 73-82
Author(s):  
M. Zulkarnain Yuliarso
Keyword(s):  
Mass Media ◽  
Social Life ◽  
Mass Communication ◽  
Formal Education ◽  
Descriptive Analysis ◽  
Rank Correlation ◽  
Sample Number ◽  
Spearman Rank Correlation Test ◽  
Random Method ◽  
Working Hour

The research was aimed to 1) to research house wife’s behavior in using mass media as information,   2) study of  factors that related to house wife’s behavior in using mass media. The data were collected in August 2009 at Pondok Besi dan Berkas. Sample number in this research were 40 people was taken by simple random method.  In explaining the first purposes were use the descriptive analysis, and the second purpose was analyzed with Spearman Rank correlation test. The information which was gained from mass media especially the things related to entertainment, health, and religion could be helpful for daily life both for their personal and social life. The result of statistical analysis showed that the formal education, number of working hour, household income, their perception on information and attitude to living change, were apparently related to using mass media.Key words: mass communication, house wife’ behavior, fisherman

scholarly journals Patterns of Changes in Average Annual Water Temperatures of the Rivers of the Arctic Zone of Russia Associated with Climate Changes

2020 ◽  
pp. 8-22
Author(s):  
Keyword(s):  
Climate Changes ◽  
Rank Correlation ◽  
The Arctic ◽  
Hydroelectric Power ◽  
Spearman Rank Correlation ◽  
Hydrological Characteristics ◽  
Power Stations ◽  
Annual Water ◽  
Spearman Rank Correlation Test ◽  
Annual Water Temperature

The paper considers changes in temperature regime of rivers flowing northerner than 60th latitude. The investigation bases on data about average monthly water temperatures from 90 hydrological gages for the period 1960-2012. Annual water temperatures for this period were calculated according to the generally accepted method as average monthly temperature from May to September and according to the proposed in this paper calculation method for the entire period with positive water temperatures. It is shown that the calculation of annual water temperatures only from the average monthly temperatures from May to October, underestimates annual water temperature. The paper estimates changes in the average annual water temperatures calculated by both methods over the period 1991–2012 compared to 1961-1990 These periods cover intensive climate change, as well as the time after the construction of the largest hydroelectric power stations. Statistical analyzes of the obtained series for trends (according to the Spearman rank correlation test) and series uniformity disturbances (Mann-Whitney U-test) were carried out. A significant increase in the average annual water temperatures in rivers on most rivers of the Russian Arctic is shown. The greatest changes are observed in the territories of Yakutia. Significant changes are also noted on the Kola Peninsula. At the same time, the magnitude of the changes depends on various hydrological characteristics of the basin. Significant changes to date have occurred in less than 50% of the investigated rivers.

Specificity and Diagnostic Utility of Cerebrospinal Fluid CXCL13 in Lyme Neuroborreliosis

2020 ◽  
Author(s):  
Elizabeth A Eckman ◽  
Dana M Clausen ◽  
Aimee R Herdt ◽  
Javier Pacheco-Quinto ◽  
John J Halperin
Keyword(s):  
Cerebrospinal Fluid ◽  
Diagnostic Marker ◽  
Leukocyte Count ◽  
Rank Correlation ◽  
Lyme Neuroborreliosis ◽  
Early Infection ◽  
Igg Synthesis ◽  
Specific Igg ◽  
Active Inflammation ◽  
Spearman Rank Correlation Test

Abstract Background Demonstration of intrathecal production of Borrelia-specific antibodies (ITAb) is considered the most specific diagnostic marker of Lyme neuroborreliosis (LNB). Limitations include delayed detectability in early infection and continued presence long after successful treatment. Markers of active inflammation—increased cerebrospinal fluid (CSF) leukocytes, protein, and CXCL13—provide nonspecific markers of active infection. To assess the utility of CSF CXCL13, we measured its concentration in 132 patients with a broad spectrum of neuroinflammatory disorders, including LNB. Methods CSF CXCL13 was measured by immunoassay. Spearman rank correlation test was performed to explore its relationship to conventional markers of neuroinflammation and Borrelia-specific ITAb production. Results In non-LNB neuroinflammatory disorders, CSF CXCL13 elevation correlated with CSF immunoglobulin G (IgG) synthesis and leukocyte count. In LNB, CXCL13 concentration was far greater than expected from overall CSF IgG synthesis, and correlated with Borrelia-specific ITAb synthesis. Median CSF CXCL13 concentration in ITAb-positive LNB patients was &gt; 500 times greater than in any other group. Conclusions Intrathecal CXCL13 and IgG production are closely interrelated. CXCL13 is disproportionately increased in “definite LNB,” defined as having demonstrable Borrelia-specific ITAb, but not “probable LNB,” without ITAb. This disproportionate increase may help identify patients with very early infection or those with active vs treated LNB, or may help to differentiate ITAb-defined active LNB from other neuroinflammatory disorders. However, its reported specificity is closely related to the diagnostic requirement for ITAb. It may add little specificity to the demonstration of a pleocytosis or increased overall or specific IgG production in the CSF.

scholarly journals A.01 Parkinson’s disease prognosis by early motor subtypes

2018 ◽  
Vol 45 (s2) ◽  
pp. S9-S9
Author(s):  
N Hey ◽  
ML Rajput ◽  
AH Rajput ◽  
A Rajput
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Symptom Onset ◽  
Primary Outcome ◽  
Disease Duration ◽  
Motor Symptom ◽  
Future Studies ◽  
Disease Prognosis ◽  
Significant Difference

Background: Studies of autopsy-confirmed cases suggest that Parkinson’s disease (PD) prognosis can be predicted using motor symptom severity at first visit. We evaluated the association between motor symptom subtype at first visit and severity at eight years disease duration among clinically-diagnosed cases at the Saskatchewan Movement Disorder Program. Methods: Retrospective data review identified 374 patients with first visit within three years of symptom onset, a clinical diagnosis of idiopathic PD, and a follow-up visit eight years after symptom onset. Subtypes were grouped as tremor-dominant (TD) if tremor was greater than rigidity and bradykinesia, akinetic-rigid (AR) if rigidity or bradykinesia was greater than tremor, and mixed (MX) if patient was neither TD nor AR based on assessment of all four limbs. Primary outcome was disease severity as measured by Hoehn & Yahr score at eight years after symptom onset. Results: The most common subtype was AR (n=164) followed by MX (n=156). TD was least common (n=54). There was no significant difference between subtypes in H&Y scores at eight years disease duration. Conclusions: These findings suggest that early PD prognosis cannot be predicted based on motor symptoms in all four limbs at first visit. Earlier studies had longer follow-up and future studies will examine progression at longer periods of disease duration.

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