Association of the HLA-A2, CW2, B27, S31, DR2 Haplotype with Ankylosing Spondylitis. A Possible Role of NON-B27 Factors in the Disease

With the aim of searching for HLA haplotypes and non-B27 allele frequency variations in Sardinian AS patients, HLA-A, B, Cw, DR, DQ and Bf, C4A and C4B typing and haplotype assignment was carried out in the families of 25 AS patients and in 44 healthy individuals, all B27 heterozygotes. In the AS patients a significant increase of the A2, Cw2, B27, DR2, DQ1 haplotype was found. This depends only partially on the linkage disequilibrium existing in the Sardinian population between B27 and the other alleles of this haplotype, and rather seems to be due to a primary association of Cw2 and DR2 alleles with AS. Preliminary data seem to show that this haplotype bears the S3l complotype and the ORB1 * 1601 allele both in the AS patients and in the healthy controls. The pathogenetic implications of these findings are discussed.

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Irritable bowel syndrome and psychological stress

Health SA Gesondheid ◽

10.4102/hsag.v4i1.6 ◽

1999 ◽

Vol 4 (1) ◽

pp. 19-26 ◽

Cited By ~ 1

Author(s):

Barbara S Bayne ◽

Anita D Stuart ◽

H Gertie Pretorius

Keyword(s):

Occupational Stress ◽

Psychological Stress ◽

The Other ◽

Theory Building ◽

Healthy Controls ◽

Healthy Individuals ◽

Daily Stress ◽

Stress Inventory ◽

Irritable Bowel ◽

The Relationship

The purpose of this study was twofold. The first aim was to clarify the relationship between psychological stress and lrritable Bowel Syndrome (IBS) by establishing whether individuals suffering from IBS experience minor stress differently from healthy individuals in terms of its frequency or intensity. The second aim was more general and concerns theory building in a field filled with ambiguity and confusion. Two groups, one comprising IBS sufferers and the other healthy controls, completed the Daily Stress lnventory and the Occupational Stress lnventory - questionnaires designed to measure minor daily and occupational stress respectively. The findings indicate that IBS sufferers do not experience more stress than healthy individuals, but they experience the stressors with greater intensity.OpsommingDie doel van die studie was tweeledig. Eerstens is daar gepoog om duidelikheid te kry oor die verband tussen sielkundige stres en Prikkelbare Dermsindroom (PDS), deur te bepaal of individue wat aan PDS ly geringe stres anders ervaar as gesonde individue in terme van gereeldheid of intensiteit. Die tweede doelwit was meer algemeen en spreek die kwessie van teorie ontwikkeling aan in 'n veld gevul met dubbelsinningheid en verwarring. Twee groepe, een bestaande uit PDS lyers en die ander 'n gesonde kontrolegroep, het die "Daily Stress Inventory'' en die "Occupational Stress Inventory" voltooi. Die vraelyste is ontwerp om onderskeidelik daaglikse stres en werkstres te meet. Die resultate dui daarop dat PDS lyers nie meer stres ervaar as die gesonde individue nie, maar dat hulle wel die stressors ervaar met groter intensiteit.

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Study of the Relationship between Microbiome and Colorectal Cancer Susceptibility Using 16SrRNA Sequencing

BioMed Research International ◽

10.1155/2020/7828392 ◽

2020 ◽

Vol 2020 ◽

pp. 1-17 ◽

Cited By ~ 6

Author(s):

Wanxin Liu ◽

Ren Zhang ◽

Rong Shu ◽

Jinjing Yu ◽

Huan Li ◽

...

Keyword(s):

Colorectal Cancer ◽

Gut Microbiota ◽

Cancer Susceptibility ◽

Precancerous Lesions ◽

Bacterial Community Composition ◽

Intestinal Flora ◽

Control Group ◽

Healthy Controls ◽

Healthy Individuals

A lot of previous studies have recently reported that the gut microbiota influences the development of colorectal cancer (CRC) in Western countries, but the role of the gut microbiota in Chinese population must be investigated fully. The goal of this study was to determine the role of the gut microbiome in the initiation and development of CRC. We collected fecal samples of 206 Chinese individuals: 59 with polyp (group P), 54 with adenoma (group A), 51 with colorectal cancer (group CC), and 42 healthy controls (group HC).16S ribosomal RNA (rRNA) was used to compare the microbiota community structures among healthy controls, patients with polyp, and those with adenoma or colorectal cancer. Our study proved that intestinal flora, as a specific indicator, showed significant differences in its diversity and composition. Sobs, Chao, and Ace indexes of group CC were significantly lower than those of the healthy control group (CC group: Sobs, Chao, and Ace indexes were 217.3 ± 69, 4265.1 ± 80.7, and 268.6 ± 78.1, respectively; HC group: Sobs, Chao, and Ace indexes were 228.8 ± 44.4, 272.9 ± 58.6, and 271.9 ± 57.2, respectively). When compared with the healthy individuals, the species richness and diversity of intestinal flora in patients with colorectal cancer were significantly reduced: PCA and PCoA both revealed that a significant separation in bacterial community composition between the CC group and HC group (with PCA using the first two principal component scores of PC1 14.73% and PC2 10.34% of the explained variance, respectively; PCoA : PC1 = 14%, PC2 = 9%, PC3 = 6%). Wilcox tests was used to analyze differences between the two groups, it reveals that Firmicutes (P=0.000356), Fusobacteria (P=0.000001), Proteobacteria (P=0.000796), Spirochaetes (P=0.013421), Synergistetes (P=0.005642) were phyla with significantly different distributions between cases and controls. The proportion of microorganism composition is varying at different stages of colon cancer development: Bacteroidetes (52.14%) and Firmicutes (35.88%) were enriched in the healthy individuals; on the phylum level, the abundance of Bacteroidetes (52.14%-53.92%-52.46%–47.06%) and Firmicutes (35.88%-29.73%-24.27%–25.36%) is decreasing with the development of health-polyp-adenomas-CRC, and the abundance of Proteobacteria (9.33%-12.31%-16.51%–22.37%) is increasing. PCA and PCOA analysis showed there was no significant (P<0.05) difference in species similarity between precancerous and carcinogenic states. However, the composition of the microflora in patients with precancerous lesions (including patients with adenoma and polyp) was proved to have no significant disparity (P<0.05). Our study provides insights into new angles to dig out potential biomarkers in diagnosis and treatment of colorectal cancer and to provide scientific advice for a healthy lifestyle for the sake of gut microbiota.

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Similarities in Blood Mononuclear Cell Membrane Phospholipid Profiles During Malignancy

Medical Sciences ◽

10.3390/medsci6040105 ◽

2018 ◽

Vol 6 (4) ◽

pp. 105

Author(s):

Gohar Hakobyan ◽

Hasmik Davtyan ◽

Kristine Harutyunyan ◽

Knarik Alexanyan ◽

Yelizaveta Amirkhanyan ◽

...

Keyword(s):

Mononuclear Cells ◽

Lymphocytic Leukemia ◽

The Other ◽

Healthy Controls ◽

Healthy Individuals ◽

Common Pattern ◽

Peripheral Blood Mononuclear ◽

Cancer Data ◽

Blood Mononuclear Cells ◽

Alteration Pattern

Phospholipids (PLs), key elements of cellular membranes, are regulated reciprocally with membrane proteins and can act as sensors for alterations in physiological or pathological states of cells including initiation and development of cancer. On the other hand, peripheral blood mononuclear cells (MNCs) play an important role in antitumor immune response by reacting to cancerous modifications in distant organs. In the current study, we tested the hypothesis that tumor initiation and development are reflected in the alteration pattern of the MNC PL component. We analyzed MNC membrane PL fractions in samples from healthy individuals and from patients with diverse types of cancers to reveal possible alterations induced by malignancy. Compared to healthy controls, the cancer samples demonstrated shifts in several membrane PL profiles. In particular, when analyzing cancer data pooled together, there were significantly higher levels in lysophosphatidylcholine, phosphatidylcholine, and phosphatidylethanolamine fractions, and significantly lower quantities in phosphatidylinositol, phosphatidylserine, and phosphatidic acid fractions in cancer samples compared to controls. The levels of sphingomyelins and diphosphatidylglycerols were relatively unaffected. Most of the differences in PLs were sustained during the analysis of individual cancers such as breast cancer and chronic lymphocytic leukemia. Our findings suggest the presence of a common pattern of changes in MNC PLs during malignancy.

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Serum Sclerostin as a Possible Biomarker in Ankylosing Spondylitis: A Case-Control Study

Journal of Immunology Research ◽

10.1155/2018/9101964 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5 ◽

Cited By ~ 5

Author(s):

Fabio Massimo Perrotta ◽

Fulvia Ceccarelli ◽

Cristiana Barbati ◽

Tania Colasanti ◽

Antonia De Socio ◽

...

Keyword(s):

New York ◽

Ankylosing Spondylitis ◽

Disease Activity ◽

Serum Levels ◽

Healthy Controls ◽

Radiographic Damage ◽

Baseline Serum ◽

Progression Of Disease ◽

And Function

Objective. Several molecules are involved in the pathogenesis of a new bone formation in ankylosing spondylitis (AS). The aim of this study was to evaluate the serum levels of sclerostin in patients with AS as a possible biomarker and to investigate any correlations with radiographic damage, disease activity, and function. Methods. AS patients fulfilled the modified New York criteria, and healthy controls were enrolled for this study. BASDAI, ASDAS-CRP, BASMI, BASFI, patient and physician VAS, and C-reactive protein were evaluated at baseline visit. Spinal damage was assessed using the mSASSS on radiographs performed within 3 months from baseline. Serum concentrations of sclerostin were assessed at baseline and after four months of therapy in patients who started an anti-TNF. Results. Twenty healthy subjects and 40 AS patients were enrolled in the study. In our group, serum sclerostin levels (median (25th–75th percentile)) were significantly higher in healthy controls (18.04 (13.6–24) pg/ml) than in AS patients (6.46 (4.5–11.1) pg/ml; P value < 0.01). However, no significant correlations were found between serum sclerostin levels and radiographic damage, assessed by mSASSS, and between serum sclerostin levels and clinical indices of activity and disability or with laboratory parameters. Sclerostin levels did not show significant changes after 4 months of anti-TNF therapy. Conclusions. The results of our study suggest a possible role of sclerostin in the identification of AS patients. Further studies are needed to prove the role of sclerostin as a disease activity biomarker and progression of disease in AS.

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Appetite-Regulating Hormone Ghrelin Predicts Decision-Making in Healthy Controls but Not Individuals With Low-Weight Eating Disorders

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.1271 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A623-A624

Author(s):

Naila Shiraliyeva ◽

Madeline Rogers Stull ◽

Danielle L Kahn ◽

Lauren Breithaupt ◽

Meghan Slattery ◽

...

Keyword(s):

Decision Making ◽

Delay Discounting ◽

Energy Homeostasis ◽

Area Under The Curve ◽

Healthy Controls ◽

Impulsive Behavior ◽

Healthy Individuals ◽

Preclinical Research ◽

Low Weight

Abstract Background: Ghrelin is an orexigenic hormone known to regulate appetite, glucose homeostasis, and other food-related functions. The potential role of ghrelin beyond energy homeostasis is not well understood. Ghrelin receptors are evident in the mesolimbic reward pathway, and preclinical research has shown that ghrelin administration increases impulsive behavior and choices in rats. However, little is known about whether and how ghrelin is associated with food-independent behavior and decision-making in humans. We investigated the relationship between ghrelin levels and monetary decision-making using a well-established behavioral paradigm in healthy individuals and individuals with a low-weight eating disorder (LWED), as patients with LWEDs have been shown to have high ghrelin levels and resistance to the effects of this hormone. We hypothesized that higher ghrelin levels would predict more impulsive choices of immediate rewards in healthy individuals, while this relationship would be less pronounced in individuals with LWEDs. Methods: Sixty-four female participants with a LWED and 34 healthy controls (HC), aged 10-22 years, presented after a 10-hour fast to undergo a standardized mixed meal followed by a delay discounting task. During this task, participants decided between smaller immediate and larger delayed monetary rewards. Based on their choices, the delay discounting parameter k was calculated as a marker of choice preferences with higher values indicating a stronger preference for the immediate smaller reward. Blood was drawn prior to and 30, 60, and 120 min after the meal for analysis of ghrelin, and area under the curve was calculated as a cumulative measurement of ghrelin levels. Results: As per study design, BMI was lower in the LWED group (17.3±1.5 kg/m2) compared to the HC group (mean±SD: 21.4±2.5 kg/m2; t[96]=11.33, p<0.0001, d=-1.99). Groups did not differ by age (LWED: 18.3±3.2 years, HC: 18.0±3.1 years; t[96]=-0.36, p=0.720, d=-0.10). Ghrelin levels were higher in the LWED compared to HC group (t[96]=-2.67, p=0.009, d=0.57). K was numerically lower in the LWED compared to the HC group, but the difference was not significant (t[96]=1.37, p=0.175, d=-0.30). Importantly, in HC higher ghrelin levels were associated with higher k values (r=0.37, p=0.032). This relationship was not observed in the LWED group (r=-0.13, p=0.304). Conclusions: In HC, higher levels of ghrelin predicted a stronger preference for smaller immediate rewards, which is consistent with increased impulsive choices shown in animal research. We did not observe this relationship in our LWED sample. Our results indicate that beyond energy homeostasis, ghrelin might play a broader role in reward-related behavior and decision-making, such as monetary choices. Future studies are required to further explore the role of ghrelin in human behavior in both clinical and non-clinical populations.

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Dissociation between Private and Social Counterfactual Value Signals Following Ventromedial Prefrontal Cortex Damage

Journal of Cognitive Neuroscience ◽

10.1162/jocn_a_01372 ◽

2019 ◽

Vol 31 (5) ◽

pp. 639-656 ◽

Cited By ~ 1

Author(s):

Nadège Bault ◽

Giuseppe di Pellegrino ◽

Martina Puppi ◽

Gaëlle Opolczynski ◽

Alessia Monti ◽

...

Keyword(s):

Decision Making ◽

Prefrontal Cortex ◽

Ventromedial Prefrontal Cortex ◽

The Other ◽

Healthy Controls ◽

Risky Decision ◽

Brain Areas ◽

Social Settings ◽

Neuropsychological Study

Individuals learn by comparing the outcome of chosen and unchosen actions. A negative counterfactual value signal is generated when this comparison is unfavorable. This can happen in private as well as in social settings—where the foregone outcome results from the choice of another person. We hypothesized that, despite sharing similar features such as supporting learning, these two counterfactual signals might implicate distinct brain networks. We conducted a neuropsychological study on the role of private and social counterfactual value signals in risky decision-making. Patients with lesions in the ventromedial prefrontal cortex (vmPFC), lesion controls, and healthy controls repeatedly chose between lotteries. In private trials, participants could observe the outcomes of their choices and the outcomes of the unselected lotteries. In social trials, participants could also see the other player's choices and outcome. At the time of outcome, vmPFC patients were insensitive to private counterfactual value signals, whereas their responses to social comparison were similar to those of control participants. At the time of choice, intact vmPFC was necessary to integrate counterfactual signals in decisions, although amelioration was observed during the course of the task, possibly driven by social trials. We conclude that if the vmPFC is critical in processing private counterfactual signals and in integrating those signals in decision-making, then distinct brain areas might support the processing of social counterfactual signals.

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Serum naturally occurring anti-TDP-43 auto-antibodies are increased in amyotrophic lateral sclerosis

Scientific Reports ◽

10.1038/s41598-021-81599-5 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Elisa Conti ◽

Gessica Sala ◽

Susanna Diamanti ◽

Marco Casati ◽

Christian Lunetta ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Serum Levels ◽

The Other ◽

Diagnostic Process ◽

Healthy Controls ◽

Naturally Occurring ◽

Als Patients ◽

First Time ◽

Lateral Sclerosis

AbstractAmyotrophic Lateral Sclerosis (ALS) patients express significant clinical heterogeneity that often hinders a correct diagnostic definition. Intracellular deposition of TDP-43, a protein involved in RNA metabolism characterizes the pathology. Interestingly, this protein can be detected in serum, wherein cognate naturally-occurring auto-antibodies (anti-TDP-43 NAb) might be also present, albeit they have never been documented before. In this exploratory study, we quantified the levels of both anti-TDP-43 NAb and TDP-43 protein as putative accessible markers for improving the ALS diagnostic process by using ELISA in N = 70 ALS patients (N = 4 carrying TARDBP mutations), N = 40 age-comparable healthy controls (CTRL), N = 20 motor neuron disease mimics (MN-m), N = 20 Alzheimer’s disease (AD) and N = 15 frontotemporal lobar degeneration (FTLD) patients. Anti-TDP-43 NAb were found to be significantly increased in ALS patients compared to all the other groups (p < 0.001). On the other hand, the distribution of serum levels of TDP-43 protein was highly variable among the various groups. Levels were increased in ALS patients, albeit the highest values were detected in MN-m patients. NAb and protein serum levels failed to correlate. For the first time, we report that serum anti-TDP-43 NAb are detectable in human serum of both healthy controls and patients affected by a variety of neurodegenerative disorders; furthermore, their levels are increased in ALS patients, representing a potentially interesting trait core marker of this disease. Further studies are needed to clarify the exact role of the NAb. This information might be extremely useful for paving the way toward targeting TDP-43 by immunotherapy in ALS.

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Recombination and linkage disequilibrium in evolutionary signatures

A Primer of Molecular Population Genetics ◽

10.1093/oso/9780198838944.003.0006 ◽

2019 ◽

pp. 113-128 ◽

Cited By ~ 1

Author(s):

Asher D. Cutter

Keyword(s):

Linkage Disequilibrium ◽

Population Genetic ◽

Genetic Linkage ◽

Genetic Data ◽

Evolutionary Change ◽

The Other ◽

Complete Linkage ◽

Theoretical Predictions ◽

The Empirical Analysis

Chapter 6, “Recombination and linkage disequilibrium in evolutionary signatures,” explores the role of partial genetic linkage within and between genes in influencing patterns of nucleotide polymorphism and evolutionary change. It introduces the concept of linkage disequilibrium as the non-random association of alleles at different loci, the potential causes of linkage disequilibrium, and different methods to quantify and visualize it. The empirical effects of partial recombination on patterns of linkage disequilibrium in genomes are illustrated with theoretical predictions and natural examples. The phenomena of non-crossover recombination and gene conversion are presented, as is the application of linkage disequilibrium to inferring population demography and the genetic mapping of traits. This chapter lays the foundation for understanding how complete linkage, partial linkage, and no linkage integrate with the other forces in evolutionary theory and with the empirical analysis of molecular population genetic data.

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Unleash multifunctional role of long noncoding RNAs biomarker panel in breast cancer: a predictor classification model

Epigenomics ◽

10.2217/epi-2019-0291 ◽

2020 ◽

Vol 12 (14) ◽

pp. 1215-1237

Author(s):

Eman A Toraih ◽

Aya El-Wazir ◽

Essam Al Ageeli ◽

Mohammad H Hussein ◽

Mohamed M Eltoukhy ◽

...

Keyword(s):

Breast Cancer ◽

Expression Patterns ◽

Noncoding Rnas ◽

The Other ◽

Classification Model ◽

Gene Expression Patterns ◽

Healthy Controls ◽

Reverse Transcription Pcr ◽

Non Coding Rnas

Aim: We aimed to explore the circulating expression profile of nine lncRNAs (MALAT1, HOTAIR, PVT1, H19, ROR, GAS5, ANRIL, BANCR, MIAT) in breast cancer (BC) patients relative to normal and risky individuals. Methods: Serum relative expressions of the specified long non-coding RNAs were quantified in 155 consecutive women, using quantitative reverse-transcription PCR. Random Forest (RF) and decision tree were also applied. Results: Significant MALAT1 upregulation and GAS5 downregulation could discriminate risky women from healthy controls. Overexpression of the other genes showed good diagnostic performances. Lower GAS5 levels were associated with metastasis and recurrence. RF model revealed a better performance when combining gene expression patterns with risk factors. Conclusion: The studied panel could be utilized as diagnostic/prognostic biomarkers in BC, providing promising epigenetic-based therapeutic targets.

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Insoles Treated with Bacteria-Killing Nanotechnology Bio-Kil Reduce Bacterial Burden in Diabetic Patients and Healthy Controls

Journal of Diabetes Research ◽

10.1155/2018/7678310 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6

Author(s):

Difei Lu ◽

Xiaohui Guo ◽

Yun Li ◽

Bo Zheng ◽

Junqing Zhang

Keyword(s):

Bacterial Count ◽

The Other ◽

Diabetic Patients ◽

Healthy Controls ◽

Bacterial Burden ◽

Healthy Individuals ◽

Bacterial Counts ◽

E Coli ◽

Bacteria Killing ◽

And Control

Our study investigated the effectiveness of bacteria-killing nanotechnology Bio-Kil socks on bacterial burden reduction in diabetic patients and healthy individuals. Four strains of S. aureus and four strains of E. coli were cultured and dropped on Bio-Kil socks and control socks for 0 h, 8 h, and 48 h of incubation. Diluted samples were inoculated and bacterial counts were recorded. Additionally, 31 patients with type 2 diabetes and 31 healthy controls were assigned to wear one Bio-Kil sock on one foot and a control sock on the other for four hours, and then they were told to exchange socks from one foot to the other for four hours. The socks were sampled and diluted and then inoculated to record bacterial counts. Bacterial counts were reduced in Bio-Kil socks compared with control socks in all S. aureus strains after 0 h, 8 h, and 48 h of incubation. In E. coli strains, bacterial counts declined in Bio-Kil socks comparing with control socks in most of the experiments with ESBL-negative E. coli and ATCC35218 at 0 h and 48 h of incubation. In all participants, the mean bacterial counts significantly decreased in Bio-Kil socks in comparison with control socks both at 0 h and at 40 h of incubation (p=0.003 at 0 h and p=0.006 at 40 h). Bio-Kil socks from diabetic patients showed significantly lessened bacterial count at 40 h of incubation (p=0.003). In healthy individuals, Bio-Kil socks reflected a significantly smaller mean bacterial count than control socks (p=0.016). Socks using Bio-Kil nanotechnology efficiently reduce bacterial counts in both diabetic patients and healthy individuals and might exert stronger efficacy in Gram-positive bacteria.

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