Vitamin D Receptor Gene Polymorphisms and Haplotypes in Hungarian Patients with Idiopathic Inflammatory Myopathy

Idiopathic inflammatory myopathies are autoimmune diseases characterized by symmetrical proximal muscle weakness. Our aim was to identify a correlation between VDR polymorphisms or haplotypes and myositis. We studiedVDR-BsmI,VDR-ApaI,VDR-TaqI, andVDR-FokIpolymorphisms and haplotypes in 89 Hungarian poly-/dermatomyositis patients (69 females) and 93 controls (52 females). We did not obtain any significant differences forVDR-FokI,BsmI,ApaI, andTaqIgenotypes and allele frequencies between patients with myositis and healthy individuals. There was no association of VDR polymorphisms with clinical manifestations and laboratory profiles in myositis patients. Men with myositis had a significantly different distribution ofBB,Bb, andbbgenotypes than female patients, control male individuals, and the entire control group. Distribution ofTT,Tt, andttgenotypes was significantly different in males than in females in patient group. According to four-marker haplotype prevalence, frequencies of sixteen possible haplotypes showed significant differences between patient and control groups. The three most frequent haplotypes in patients were thefbAt,FBaT, andfbAT. Our findings may reveal that there is a significant association:BbandTtgenotypes can be associated with myositis in the Hungarian population we studied. We underline the importance of our result in the estimated prevalence of four-marker haplotypes.

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The Estimation of prostate specific antigen (PSA) concentrations in patients with prostatitis by fully automated ELISA technique.

Journal of Medical Research and Health Sciences ◽

10.15520/jmrhs.v3i11.279 ◽

2020 ◽

Vol 3 (11) ◽

pp. 1100-1104

Author(s):

Hussein Naeem Aldhaheri ◽

Ihsan Edan AlSaimary ◽

Murtadha Mohammed ALMusafer

Keyword(s):

Personal Information ◽

Receptor Gene ◽

Specific Antigen ◽

Gene Clusters ◽

Control Group ◽

P Value ◽

Group Data ◽

Elisa Technique ◽

And Control

The Aim of this study was to determine Immunogenetic expression of Toll-like receptor gene clusters related to prostatitis, to give acknowledge about Role of TLR in prostatitis immunity in men from Basrah and Maysan provinces. A case–control study included 135 confirmed prostatitis patients And 50 persons as a control group. Data about age, marital status, working, infertility, family history and personal information like (Infection, Allergy, Steroid therapy, Residency, Smoking, Alcohol Drinking, Blood group, Body max index (BMI) and the clinical finding for all patients of Prostatitis were collected. This study shows the effect of PSA level in patients with prostatitis and control group, with P-value <0.0001 therefore the study shows a positive significant between elevated PSA levels and Prostatitis.

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Analysis of association between histamine receptor gene HRH1, HRH2, HRH3, HRH4 polymorphisms and asthma in children

Russian Pulmonology ◽

10.18093/0869-0189-2021-31-6-729-738 ◽

2021 ◽

Vol 31 (6) ◽

pp. 729-738

Author(s):

Olga N. Savelieva ◽

Aleksandra S. Karunas ◽

Yuliya Yu. Fedorova ◽

Radik F. Gatiyatullin ◽

Esfir I. Etkina ◽

...

Keyword(s):

Gene Polymorphisms ◽

Receptor Gene ◽

Severe Disease ◽

Histamine Receptor ◽

Control Group ◽

Republic Of Bashkortostan ◽

Children With Asthma ◽

Asthma Patients ◽

Receptor Gene Polymorphisms ◽

The Republic

Asthma is a common multifactorial disease characterized by chronic inflammation of the respiratory tract. Insufficient control of asthma symptoms significantly reduces the patient’s quality of life, leads to the risk for more severe disease and disability. It is important to research the role of gene polymorphisms encoding proteins involved in various stages of histamine metabolism, which is one of the known mediators of allergic reactions.The aim of the study was to investigate histamine receptor gene polymorphisms (HRH1, HRH2, HRH3, HRH4) in children with asthma and the control group.Methods. The study of HRH1 (rs901865), HRH2 (rs2067474), HRH3 (rs3787429), HRH4 (rs11665084) gene polymorphisms in asthma patients and healthy individuals aged 2 - 17 years of different ethnicities living in the Republic of Bashkortostan was carried out. Genotyping of polymorphisms was performed by polymerase chain reaction with fluorescence detection.Results. In Tatars, rs901865*CT genotype and rs901865*T allele of HRH1 gene were associated with asthma development and decrease in spirometry measures (MEF25). In Tatars, a statistically significant model of the interaction between HRH1 (rs901865), HRH3 (rs3787429), and HRH4 (rs11665084) gene polymorphisms that leads to the risk of asthma was established.Conclusion. The results of this study reveal certain aspects of asthma pathogenesis and suggest the possible involvement of polymorphic variants of histamine receptors genes HRH1, HRH3, HRH4 in the development of asthma.

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COVID-19 in Hospitalized Adults With HIV

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa327 ◽

2020 ◽

Vol 7 (8) ◽

Cited By ~ 1

Author(s):

Kate Stoeckle ◽

Carrie D Johnston ◽

Deanna P Jannat-Khah ◽

Samuel C Williams ◽

Tanya M Ellman ◽

...

Keyword(s):

Clinical Characteristics ◽

Invasive Mechanical Ventilation ◽

Clinical Manifestations ◽

Supplemental Oxygen ◽

Control Group ◽

Electronic Health Record Data ◽

Duration Of Symptoms ◽

Radiographic Findings ◽

Presenting Symptoms ◽

And Control

Abstract Background The spread of SARS-CoV-2 and the COVID-19 pandemic have caused significant morbidity and mortality worldwide. The clinical characteristics and outcomes of hospitalized patients with SARS-CoV-2 and HIV co-infection remain uncertain. Methods We conducted a matched retrospective cohort study of adults hospitalized with a COVID-19 illness in New York City between March 3, 2020, and May 15, 2020. We matched 30 people with HIV (PWH) with 90 control group patients without HIV based on age, sex, and race/ethnicity. Using electronic health record data, we compared demographic characteristics, clinical characteristics, and clinical outcomes between PWH and control patients. Results In our study, the median age (interquartile range) was 60.5 (56.6–70.0) years, 20% were female, 30% were black, 27% were white, and 24% were of Hispanic/Latino/ethnicity. There were no significant differences between PWH and control patients in presenting symptoms, duration of symptoms before hospitalization, laboratory markers, or radiographic findings on chest x-ray. More patients without HIV required a higher level of supplemental oxygen on presentation than PWH. There were no differences in the need for invasive mechanical ventilation during hospitalization, length of stay, or in-hospital mortality. Conclusions The clinical manifestations and outcomes of COVID-19 among patients with SARS-CoV-2 and HIV co-infection were not significantly different than patients without HIV co-infection. However, PWH were hospitalized with less severe hypoxemia, a finding that warrants further investigation.

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Serum Concentration of Thyroid Hormones Long-Term After Sulfur Mustard Exposure

Iranian Journal of Public Health ◽

10.18502/ijph.v48i5.1813 ◽

2019 ◽

Author(s):

Sakine MOAIEDMOHSENI ◽

Tooba GHAZANFARI ◽

Ensie Sadat MIRSHARIF ◽

Nayere ASKARI ◽

Zuhair MOHAMMAD HASSAN ◽

...

Keyword(s):

Cohort Study ◽

Thyroid Hormones ◽

Sulfur Mustard ◽

Clinical Manifestations ◽

Exposed Group ◽

Control Group ◽

Gene Expressions ◽

Historical Cohort ◽

And Control

Background: Despite several reports on the clinical manifestations of sulfur mustard (SM) intoxication, there is no study on serum concentrations of thyroid hormones long-term after SM exposure. In this study, the changes in thyroid functioning parameters 20 yr after SM exposure were evaluated. Methods: This study is a part of a larger historical cohort study conducted in 2007 following 20 years of the exposure to SM, called Sardasht–Iran cohort study (SICS). We (SICS) comprised an SM–exposed group from Sardasht City, West Azerbaijan Province, Iran (n=169 as hospitalized group and n=203 as non-hospitalized exposed group); and control participants were selected from Rabat, a town near Sardasht (n=126). Peripheral blood samples were taken in fasting state and then the sera were separated. T4, T3, TSH, antithyroglobulin (anti–Tg), and antithyroid peroxidase (anti–TPO) concentrations in the sera were measured by the ELISA method. Results: The mean of T3 concentration was significantly higher in the exposed than control group (0.88 ± 0.26 nmol/L vs 0.8 ± 0.25 nmol/L, P<0.001). The levels of TSH, T4, and T3up were not significantly different between the exposed and control groups. Thyroglobulin level was significantly higher in the exposed non-hospitalized group (56.07 ± 140.22 µg/L vs 17.66 ± 41.49 µg/L, P=0.004), but the level of anti–Tg and anti–TPO showed no significant differences between the two groups. Conclusion: More studies are needed on the alterations in thyroid hormones, their gene expressions, and mechanisms involved in SM exposure to clarify the causes of these alterations.

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The Assessment of Immunomolecular expression and prognostic role of TLR7 among patients with Prostatitis

Journal of Medical Research and Health Sciences ◽

10.15520/jmrhs.v3i11.278 ◽

2020 ◽

Vol 3 (11) ◽

pp. 1105-1109

Author(s):

Ihsan Edan AlSaimary ◽

Hussein Naeem Aldhaheri ◽

Murtadha Mohammed ALMusafer

Keyword(s):

Personal Information ◽

Receptor Gene ◽

Gene Clusters ◽

Control Group ◽

Toll Like Receptor ◽

Pcr Product ◽

Group Data ◽

And Control ◽

Molecular Expression

The Aim of this study was to determine Immunogenetic expression of Toll-like receptor gene clusters related to prostatitis, to give acknowledge about Role of TLR in prostatitis immunity in men. A case–control study included 135 confirmed prostatitis patients And 50 persons as a control group. Data about age, marital status, working, infertility, family history and personal information like (Infection, Allergy, Steroid therapy, Residency, Smoking, Alcohol Drinking, Blood group, Body max index (BMI) and the clinical finding for all patients of Prostatitis were collected , The molecular expression study include extracting DNA from blood of Prostatitis patients , Prostitis patients and Control group by using specific primers for conventional PCR and Real Time PCR , the amplification of all extracted DNA from blood samples was preform and confirm by using electrophoresis with (100volt/30min). PCR product was 149bp for TLR7 on agarose gel (1%), (50voltage for 1hour) with a presence 100%. The results of the present study indicate that the Toll like receptor alleles associated with risk of prostatitis.

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The Effect of Follicular-fluid Exposure of Endometriosis Cyst Patients toward the Levels of Bcl-2 and Cytochrome-C in Mice Oocyte

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2020.4791 ◽

2020 ◽

Vol 8 (A) ◽

pp. 567-570

Author(s):

Ida Bagus Putra Adnyana ◽

I Made Jawi ◽

Ketut Suwiyoga ◽

I Made Bakta ◽

I Nyoman Mantik Astawa ◽

...

Keyword(s):

Cytochrome C ◽

Follicular Fluid ◽

Clinical Manifestations ◽

World Health ◽

Control Group ◽

Mitochondrial Apoptosis ◽

Control Group Design ◽

Significance Level ◽

Treatment Groups ◽

And Control

BACKGROUND: Endometriosis cysts adversely affect a woman’s quality of life, which causes pain and reduces fertility. The World Health Organization found that the incidence of endometriosis with infertility clinical manifestations is around 10%. AIM: The purpose of this study is to determine the presence of mice oocytes mitochondrial apoptosis exposed with endometriosis cysts follicular fluid through Bcl-2 and cytochrome C analysis. METHODS: This study was a randomized post-test only control group design conducted at Sanglah Hospital, Bali Royal Hospital in Denpasar, and the Medical Faculty Udayana University from June 2018 to April 2019. A total of 120 mice oocytes were distributed randomly into three groups, i.e., treatment Groups 1 and 2 that added by 15% endometriosis cysts follicular fluid and control group. Bcl-2 and Cytochrome C analyzed with ELISA Technique. Comparability was tested with one-way ANOVA with a significance level of p < 0.05. RESULTS: Eighteen mice oocyte replicates were normally distributed and homogeneous. The Bcl-2 levels in the treatment Groups 1, and 2 and control were 627.83 ± 146.42, 634.50 ± 140.62, and 678.83 ± 152.71, respectively; p = 0.838 (not significantly different). Cytochrome C levels in the treatment Groups 1, and 2, and control, respectively, were 3147.75 ± 228.50, 3104.45 ± 211.29, and 2738.28 ± 227.45; p = 0.021 (significantly different). CONCLUSION: The effect of endometriosis cysts follicular fluid exposure on mitochondrial apoptosis is proven through Cytochrome C, whereas Bcl-2 is not proven.

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Idiopathic inflammatory myopathy human derived cells retain their ability to increase mitochondrial function

PLoS ONE ◽

10.1371/journal.pone.0242443 ◽

2020 ◽

Vol 15 (11) ◽

pp. e0242443

Author(s):

Carla Basualto-Alarcón ◽

Félix A. Urra ◽

María Francisca Bozán ◽

Fabián Jaña ◽

Alejandra Trangulao ◽

...

Keyword(s):

Skeletal Muscle ◽

Mitochondrial Function ◽

Inflammatory Myopathy ◽

Clinical Manifestations ◽

Metabolic Stress ◽

Idiopathic Inflammatory Myopathy ◽

Therapeutic Interventions ◽

Calcium Handling ◽

Cell Physiology ◽

Atp Production

Idiopathic Inflammatory Myopathies (IIMs) have been studied within the framework of autoimmune diseases where skeletal muscle appears to have a passive role in the illness. However, persiting weakness even after resolving inflammation raises questions about the role that skeletal muscle plays by itself in these diseases. "Non-immune mediated" hypotheses have arisen to consider inner skeletal muscle cell processes as trigger factors in the clinical manifestations of IIMs. Alterations in oxidative phosphorylation, ATP production, calcium handling, autophagy, endoplasmic reticulum stress, among others, have been proposed as alternative cellular pathophysiological mechanisms. In this study, we used skeletal muscle-derived cells, from healthy controls and IIM patients to determine mitochondrial function and mitochondrial ability to adapt to a metabolic stress when deprived of glucose. We hypothesized that mitochondria would be dysfunctional in IIM samples, which was partially true in normal glucose rich growing medium as determined by oxygen consumption rate. However, in the glucose-free and galactose supplemented condition, a medium that forced mitochondria to function, IIM cells increased their respiration, reaching values matching normal derived cells. Unexpectedly, cell death significantly increased in IIM cells under this condition. Our findings show that mitochondria in IIM is functional and the decrease respiration observed is part of an adaptative response to improve survival. The increased metabolic function obtained after forcing IIM cells to rely on mitochondrial synthesized ATP is detrimental to the cell’s viability. Thus, therapeutic interventions that activate mitochondria, could be detrimental in IIM cell physiology, and must be avoided in patients with IIM.

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The PAI-I Gene 4G/5G Polymorphism and Central Nervous System Bleeding In Factor XIII Deficiency

Blood ◽

10.1182/blood.v122.21.4782.4782 ◽

2013 ◽

Vol 122 (21) ◽

pp. 4782-4782 ◽

Cited By ~ 2

Author(s):

Majid Naderi ◽

Akbar Dorgalaleh ◽

Shaban Alizadeh ◽

Shadi Tabibian ◽

Bamedi Taregh ◽

...

Keyword(s):

Factor Xiii ◽

Conflicts Of Interest ◽

Clinical Manifestations ◽

Control Group ◽

Severe Bleeding ◽

Bleeding Tendency ◽

Intraparenchymal Hemorrhage ◽

Factor Xiii Deficiency ◽

History Of ◽

And Control

Background FXIII deficiency is one of the rare bleeding disorder (RBD) that has a highest incidence in Sistan and Baluchistan province around the world. This disorder represents with different clinical manifestations ranging from mild to severe bleeding tendency including CNS bleeding. The aim of this study is to evaluate the role of PAI-14G/5Gpolymorphism in central nervous bleeding (intra and extracranial hemorrhage) system in factor XIII deficiency. Methods In this case control study was studied 32 FXIII deficient patients with CNS bleeding and also 32 patients with factor XIII deficiency without history of CNS bleeding as control group. Initially both groups were evaluated for the previously reported polymorphism of factor XIII (Trp187Argpolymorphism) in order to confirm their disorder. Then all patients were assessed for PAI-14G/5G polymorphism. Eventually obtained data was analyzed by SPSS software. Results The result of this study revealed that all study patients were homozygote for Trp187Arg polymorphism. We also found that the equal numbers of patients (4 individuals) in case and control groups were heterozygote for PAI-14G/5G polymorphism and none of patients were homozygote for this polymorphism. All heterozygote patients had intracranial hemorrhage and patients with extracranial hemorrhage had no mutation of PAI-14G/5G. Intraparenchymal was the most common site of hemorrhage and was observed in 26 patients (92.8%).We also observed subdural and epidural hemorrhage in two patients (7.1%).Anatomic regions in patients with intraparenchymal hemorrhage, were temporal in nine (32.2%), occipital in eight (28.6%), diffused intraparenchymal hemorrhage in seven (25%), tempro-occipital in two (7.1%) and subdural with temporal in two (7.1%) patients. Conclusion: It seems that PAI-14G/5G polymorphism did not any effect on occurrence of intra and extracranial hemorrhage in patients with factor XIII deficiency. Disclosures: No relevant conflicts of interest to declare.

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Absence of Correlation between IL-28B Gene Polymorphisms and the Clinical Presentation of Chronic Hepatitis B in an Amazon Brazilian Population

Disease Markers ◽

10.1155/2014/534534 ◽

2014 ◽

Vol 2014 ◽

pp. 1-7 ◽

Cited By ~ 1

Author(s):

Simone Regina Souza da Silva Conde ◽

Luciana L. Rocha ◽

Vanessa M. Ferreira ◽

Julius Caesar Mendes Soares Monteiro ◽

Nathália Karla Fonseca Filgueiras ◽

...

Keyword(s):

Chronic Hepatitis ◽

Hepatitis B ◽

Chronic Hepatitis B ◽

Clinical Manifestations ◽

Positive Control ◽

Control Group ◽

Similar Distribution ◽

Control Groups ◽

And Control

Objective. The present study investigated the prevalence of the IL-28B polymorphisms rs12979860 and rs8099917 in chronic hepatitis B patients from a case study in Eastern Amazonia.Methods. In total, 65 chronically infected HBV patients and 97 healthy subjects who were anti-HBc and anti-HBs positive (control group) were evaluated between May 2011 and December 2012. The groups of patients were designated as inactive carriers, chronic hepatitis without cirrhosis, and chronic hepatitis with cirrhosis based on clinical, pathological, biochemical, hematological, and virological variables. The patients were genotyped using quantitative real-time PCR.Results. The frequencies of the rs12979860 polymorphism were similar between the infected group (32.3% CC, 41.5% CT, and 26.2 TT) and the control population (35% CC, 47.4% CT, and 17.6% TT), and the frequencies of the rs8099917 polymorphism (7.7% GG, 35.4% GT, and 56.9% TT versus 7.2% GG, 35.1% GT, and 57.7% TT) were also similar in both groups. The associations between the rs12979860 and rs8099917 polymorphisms and the clinical manifestations were not statistically significant.Conclusion. In conclusion, these polymorphisms had a similar distribution between infected and control groups, indicating that they were not associated with susceptibility and the clinical evolution of hepatitis B in the examined population.

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Vitamin D Receptor Gene BsmI Polymorphism in Polish Patients with Systemic Lupus Erythematosus

ISRN Endocrinology ◽

10.1155/2013/427818 ◽

2013 ◽

Vol 2013 ◽

pp. 1-5 ◽

Cited By ~ 16

Author(s):

Beata Kaleta ◽

Jarosław Bogaczewicz ◽

Ewa Robak ◽

Anna Sysa-Jędrzejowska ◽

Małgorzata Wrzosek ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Vitamin D ◽

Lupus Erythematosus ◽

Clinical Symptoms ◽

Receptor Gene ◽

Active Form ◽

Clinical Manifestations ◽

Control Group ◽

Systemic Lupus ◽

Bsmi Polymorphism

The hormonally active form of vitamin D3, 1,25(OH)2D3 (calcitriol), exerts actions through VDR receptor, which acts as a transcriptional factor. Calcitriol is an immunomodulator that affects various immune cells, and several studies link it to many autoimmune diseases. BsmI polymorphism affects the level of VDR gene transcription, transcript stability, and posttranscriptional modifications. It seems to be related to the systemic lupus erythematosus (SLE). Our study examined the characteristics of VDR gene BsmI polymorphism in Polish SLE patients and their relationship with clinical manifestations of the disease. We genotyped 62 patients with SLE and 100 healthy controls using the real-time PCR. There were no differences observed in the frequency of BsmI genotypes in SLE patients and in the control group. There was no significant correlation between BsmI genotypes and clinical symptoms of SLE, but the AA genotype correlates with higher levels of antinuclear antibodies (ANA) in this group (r=0.438; P=0.002). A larger study examining BsmI and other VDR gene polymorphisms is needed. It may allow explaining differences in the clinical picture of the disease and choosing a personalized therapy.

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