scholarly journals TLR4 gene polymorphisms in Egyptian vitiligo patients: insights into emerging association with clinical activity, family history, and response to therapy

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Maha Abdelsalam ◽  
Sherihan H. Allam ◽  
Marwa Zohdy ◽  
Hend Magdy ◽  
Maged Mostafa
Keyword(s):  
Family History ◽  
Clinical Data ◽  
Gene Polymorphisms ◽  
Demographic Data ◽  
Age Groups ◽  
Response To Therapy ◽  
Molecular Structures ◽  
Control Group ◽  
Clinical Activity ◽  
Tlr4 Gene

Abstract Background Vitiligo is a common pigmentary disorder in which autoimmunity has been suggested to play an important role. Toll-like receptor (TLR) family are recognized different molecular structures expressed on immune cells and have been implicated in a number of autoimmune diseases (AIDs) such as vitiligo. The purpose of this study was to investigate the possible association between TLR4 gene polymorphisms: rs11536858, rs1927911, rs1927914 in Egyptian vitiligo patients and their clinical data, their response to therapy. Using PCR-RFLP for TLR4 gene polymorphisms (rs11536858, rs1927911, and rs1927914), both alleles and genotypes were determined after extraction of DNA in a case-control study of 100 vitiligo Egyptian patients and 100 matched age and sex controls. Results The distribution of the protective CT genotype of rs1927914 was higher in the control group. After dividing both patients and controls into 2 age groups (below 18 and above 18 years), no significant associations between the genotypes of the selected TLR4 SNPs and the demographic and clinical data of the vitiligo patients in group 1 (below 18 years) were observed. For group 2 (above 18 years), also no significant associations were found except for the association between the CC genotype of rs1927914 and psychiatric trauma, from one side, and between the CT genotype of rs1927911 and alopecia, from the other side. The association between combined genotypes and the risk of vitiligo showed either higher frequency in patients (risky), or controls (protective), and some equal frequencies (non-significant). The association between haplotypes and risk of vitiligo in patients’ group revealed the highest frequency for the risky ATT and the least frequency for ATC haplotypes. In control group, the protective GCT haplotype showed the highest frequency while the GTC and GCC showed the least frequency. No significant correlations of haplotypes with clinical and demographic data of selected patients’ group were observed apart from that between ACC haplotype and family history of AIDs and between ATT haplotype and remission after phototherapy. Conclusions The significant relationship between TLR4 gene polymorphisms and vitiligo patients charcteristics clarify the role of innate immunity in pathogensis of vitiligo and its effect on the used therapies.

Predicting response to therapy in chronic hepatitis C: An approach combining interleukin-28B gene polymorphisms and clinical data

2012 ◽  
Vol 27 (2) ◽  
pp. 279-285 ◽  
Author(s):  
José M Ladero ◽  
Elena García Martin ◽  
Cristina Fernández ◽  
Miguel Carballo ◽  
María J Devesa ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Chronic Hepatitis C ◽  
Clinical Data ◽  
Gene Polymorphisms ◽  
Response To Therapy ◽  
Interleukin 28B

scholarly journals The therapeutic outcome of intravenous steroid therapy for active Graves' orbitopathy is influenced by the time of response but not polymorphisms of the glucocorticoid receptor

2014 ◽  
Vol 170 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Guia Vannucchi ◽  
Danila Covelli ◽  
Irene Campi ◽  
Daniele Origo ◽  
Nicola Currò ◽  
...  
Keyword(s):  
Glucocorticoid Receptor ◽  
Gene Polymorphisms ◽  
Response To Therapy ◽  
Therapeutic Outcome ◽  
Clinical Activity ◽  
Treatment Schedule ◽  
Intravenous Steroid ◽  
Therapeutic Outcomes ◽  
Variable Sensitivity ◽  
Graves Orbitopathy

BackgroundGlucocorticoids are the mainstay of immunosuppression for active moderate–severe Graves' orbitopathy (GO).AimTo analyze the response to therapy and the contribution of glucocorticoid receptor (GR) gene polymorphisms to the therapeutic outcome of intravenous glucocorticoids (IVGC) in active moderate–severe GO.MethodsWe have studied 58 patients treated with 7.5 g i.v. methylprednisolone (cumulative dose). Ophthalmological assessment was performed at baseline and at 6–8, 12–16, and 24–30 weeks after the first infusion. Three GR gene polymorphisms, ER22/23EK, N363S, and BCL1, which have been associated to variable sensitivity to steroids, were studied in 43/58 patients. The therapeutic outcomes defined as: i) reduction of the clinical activity score (CAS) ≥2 points or ii) reduction of proptosis ≥2 mm or iii) improvement of diplopia according to the Gorman score were also studied in relation to treatment schedule, age, gender, duration of thyroid or GO, smoking habits, and serum TSH-receptor autoantibodies levels.ResultsIn total, 70% of patients responded and had GO inactivation (CAS <4) as early as 6–8 weeks. At 12–16 weeks, the proportion of patients who became inactive increased by another 10% up to a total of 80%. ER22/23EK and N363S polymorphisms were present only in about 7%, while the Bcl1 variant was present in 30% of patients; no significant association of any of the GR polymorphisms with either the therapeutic response or the occurrence of side effects was observed.ConclusionsMost patients with active GO respond to IVGC as early as 6–8 weeks of therapy and the analyzed GR polymorphisms do not influence the therapeutic effect of steroids. Questions arise about the need of continuing therapy up to 12 weeks in nonresponders. We suggest that these patients may be switched to other treatments alone or in combination with steroids.

scholarly journals Mycology of Otomycosis in Port Harcourt

2021 ◽  
pp. 206-212
Author(s):  
Ureh Annabel Oparaodu ◽  
Opubo Benedict da Lilly-Tariah ◽  
Kennedy Warriso
Keyword(s):  
Fungal Infection ◽  
Demographic Data ◽  
Age Groups ◽  
Predisposing Factors ◽  
Control Group ◽  
Ear Canal ◽  
Port Harcourt ◽  
Culture Sensitivity ◽  
Positive Growth ◽  
Rivers State

Tropical climate favors the growth of fungal infection in the ear resulting in otomycosis. This study is aimed at determining the predisposing factors, symptoms, prevalence and demographic data of patients diagnosed with otomycosis. This is a 1 year prospective hospital based study, between June 2017 to June 2018 at University of Port Harcourt Teaching Hospital (UPTH), Rivers State, Nigeria. Clinical features, predisposing factors and examination findings were noted on the administered questionnaire. Patients were examined and specimen collected for microscopy, culture, sensitivity and mycological studies. Our results show isolated fungi were present in 34 out of 120 ear swabs of patients and in 5 out of 120 ear swabs from the control group. The prevalence of otomycosis was 2.7%, while the ear symptom with the highest frequency was itching (86.7%) and debris in ear canal (67.6%). Patients with positive growth constitute 53% females and 47% males. Age groups 10-29 and 40-49 years had the highest and lowest number of infected patients, respectively. Candida was the commonest organism isolated accounting for 61.8% followed by Aspergillus spp. (23.5%) and Penicillium (8.8%).

scholarly journals Evaluation of attributable risk of dentoalveolar and facial anomalies prevalence among children depending on the features of family history

2017 ◽  
Vol 98 (5) ◽  
pp. 701-703
Author(s):  
Z U Aliev
Keyword(s):  
Family History ◽  
Age Groups ◽  
Attributable Risk ◽  
Control Group ◽  
Tooth Position ◽  
Facial Anomalies ◽  
The Family ◽  
History Of ◽  
The Difference ◽  
Close Relatives

Aim. To assess the attributable risk of dentoalveolar and facial anomalies prevalence among children depending on the features of family history. Methods. A sample of 2000 children was selected (250 boys and 250 girls from 4 age groups: 3-5, 6-9, 10-12 and 13-15 years). Characteristics of the family history was obtained by parents’ survey. The risk of dentoalveolar and facial anomalies was determined by comparing their frequency between groups with compromised and normal family history. Attributable risk was defined as the difference in the frequency of dentoalveolar and facial anomalies. Results. The number of teeth with abnormal position per 100 examined patients ranged widely: from 72.3±1.1 to 105.4±5.3. Depending on various characteristics of the family history, the attributable risk of anomalous tooth position varied in the range from 3.0 to 33.1 per 100 children. The highest attributable risk of anomalies of the tooth position in children was revealed in cases when their parents had a history of dentoalveolar and facial anomalies (33.1%). In the presence of close relatives’ history of dentoalveolar and facial anomalies (except grandparents) attributable risk of anomalies of the tooth position in children was 11.4-14.8%. In the groups of children, whose grandparents had a history of dentoalveolar and facial anomalies, the prevalence of anomalies of the tooth position (80.9±2.0 per 100 children) was not significantly different from that in the control group (77.9±1.0). It can be explained by the fact that during the parents’ survey they were not able to state with certainty grandparents’ history of dentoalveolar and facial anomalies. Conclusion. Compromised family history in children is associated with high attributable risk of anomalies of occlusion and tooth position.

Haemophilia Registry of the Medical Committee of the Swiss Haemophilia Society

2009 ◽  
Vol 29 (S 01) ◽  
pp. S16-S18 ◽  
Author(s):  
B. Brand ◽  
N. von der Weid
Keyword(s):  
Quality Control ◽  
Infectious Diseases ◽  
Mutation Analysis ◽  
Clinical Data ◽  
Age Groups ◽  
Treatment Modalities ◽  
Global Survey ◽  
On Demand ◽  
Per Capita ◽  
Severity Of The Disease

SummaryThe Swiss Haemophilia Registry of the Medical Committee of the Swiss Haemophilia Society was established in 2000. Primarily it bears epidemiological and basic clinical data (incidence, type and severity of the disease, age groups, centres, mortality). Two thirds of the questions of the WFH Global Survey can be answered, especially those concerning use of concentrates (global, per capita) and treatment modalities (on-demand versus prophylactic regimens). Moreover, the registry is an important tool for quality control of the haemophilia treatment centres.There are no informations about infectious diseases like hepatitis or HIV, due to non-anonymisation of the data. We plan to incorporate the results of the mutation analysis in the future.

Effect of Chewing Gum on Bowel Motility in Women Undergoing Post-Operative Cesarean Section

2018 ◽  
Vol 3 (06) ◽  
Author(s):  
Dr.Randa Mohammed AboBaker
Keyword(s):  
Cesarean Section ◽  
Hospital Stay ◽  
Demographic Data ◽  
Length Of Hospital Stay ◽  
Chewing Gum ◽  
Control Group ◽  
Controlled Clinical Trial ◽  
Bowel Motility ◽  
Gum Chewing ◽  
Significant Difference

Postoperative Ileus (POI) is one of the most common problems after obstetrics, gynecologic and abdominal surgeries. Sham feeding, such as gum chewing, accelerates the return of bowel function and the length of hospital stay. The present study aims to evaluate the effect of chewing gum on bowel motility in women undergoing post-operative cesarean section. Intervention study was used at the Postpartum Department of Maternity and Children Hospital, KSA. A randomized controlled clinical trial research design. Through a convenience technique, 80 post Caesarian Section (CS) women were included in the study. Data were collected through three tools: Tool (I): Socio-demographic data and reproductive history interview schedule. Tool (II): Postoperative Assessment Sheet. Tool (III): Outcomes of gum chewing and the length of hospital stay.  Method: subjects were assigned randomly into two groups of (40) the experimental and (40) the control. Subjects in the study group were asked to chew two pieces of sugarless gum for 30 min/three times daily in the morning, noon, and evening immediately after recovery from anesthesia and in Postpartum Department; while subjects in the control group followed the hospital routine care. Each woman in both groups was tested abdominally using a stethoscope to auscultate the bowel sounds and asked to report immediately the time of either passing flatus or stool. Results: illustrated that a highly statistically significant difference was observed between the two groups concerning their gum chewing outcomes. Where, P = 0.000. The study concluded that gum chewing is safe, well tolerated and appears to be effective in reducing the incidence and consequences of POI following CS.

Employing Gamma Ray Irradiated Giardia lamblia as Trialed Vaccine in Experimental Animal

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Amal Kamil Abdul Sada ◽  
Amany Mohamed Al-Kaysi
Keyword(s):  
Giardia Lamblia ◽  
Gamma Ray ◽  
Age Groups ◽  
Active Phase ◽  
Study Groups ◽  
Negative Control ◽  
Control Group ◽  
High Dose ◽  
Histopathological Changes ◽  
Gamma Irradiated

This is an experimental trial to prepare a vaccine from gamma-irradiated Giardia lamblia which is evaluated in experimental animals. The study was conducted from December 2015 to April 2016. The field survey of the parasite was conducted from those patients attending the laboratories of the Alawi Children's Hospital in Rusafa and the Al-Yarmouk Teaching Hospital in Karkh, through which 1250 stool samples of different age groups were examined. Five groups of mice were used in the study; the first was injected with normal saline and considered as a negative control group, the second was injected with cystic form of non-irradiated Giardia lamblia and considered as a positive control group, whereas the other three groups were injected with gamma irradiated Giardia lamblia at three different doses 10, 15 and 25 rad respectively. Giardia lamblia was primarily cultivated in liver infusion agar for ten days to obtain the active phase. On the sixth day, the cystic phase was purified and standardized to be used in the infection of mice with or without the exposure of gamma rays. Mice showed high sensitivity to parasitic infestation, in the gamma non-irradiated and the irradiated with gamma 10 rad, and 15 rad irradiated groups which was 100%. The results expressed an excystation process of the depleted phases and the release of the feeder phases. The results of the three irradiated groups consisted of histopathological changes of the small, and the rectum by dissection after two weeks of infection, with intestine amputation lesions, as well as ulceration and inflammation of the inflammatory cells represented in small numbers of neutrophil, lymphocytes, and eosinophils. The presence of ulceration and fall of epithelial cells in the intestinal cavity has been shown, and different forms of the parasite have been observed. Mice which was injected with irradiated G lamblia at high dose (25 rad), not show and sensitivity to the challenge infection and no excystation of thy parasite had been done. After 2 wreaks, a comparison was achieved between all study groups in which no histopathological changes were noticed in the mice irradiated with dose of25 rad. After another two weeks, a challenge dose was given (un-attenuated G lamblia) and mice were dissected after another two weeks, no changes on the level of histopathology of intestinal tissue were noticed the results suggested that mice acquire an immunity against the parasite infection.

Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ -211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program

2020 ◽  
Vol 21 ◽  
Author(s):  
Elli Anagnostou ◽  
Alexia Kafkoutsou ◽  
Despina Mavrogianni ◽  
Ekaterini Domali ◽  
Evangelia Dimitroulia ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Ovarian Response ◽  
Greek Population ◽  
Control Group ◽  
Genotype Distribution ◽  
Β Subunit ◽  
Molecular Genetic Study ◽  
The Impact ◽  
First Time

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

scholarly journals POS0611 THE EFFECT OF RITUXIMAB BIOSIMILAR THERAPY ON THE EXPRESSION OF INTERFERON-STIMULATED GENES (“INTERFERON SIGNATURE”) IN PATIENTS WITH RHEUMATOID ARTHRITIS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 542.2-542
Author(s):  
A. Avdeeva ◽  
E. Tchetina ◽  
G. Markova ◽  
E. Nasonov
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Signature ◽  
Response To Therapy ◽  
Type I Interferons ◽  
Control Group ◽  
Type I ◽  
Acute Phase Reactants ◽  
Interferon Signature ◽  
Interferon Stimulated Genes ◽  
Healthy Donors

Background:Type I interferons (IFN-Is) are a group of molecules with pleiotropic effects on the immune system forming a crucial link between innate and adaptive immune responses. The type I interferon pathway has been implicated in the pathogenesis of a number of rheumatic diseases, including rheumatoid arthritis. IFN activity is usually quantified using expression of interferon-stimulated genes (ISGs) referred to as an IFN signature. Acellbia (BIOCAD) is the first Russian rituximab (RTX) biosimilar which was approved for medical use in rheumatoid arthritis (RA) patients in Russia and some CIS countries.Objectives:To evaluate the changes in expression of ISGs in patients (pts) with RA during RTX biosimilar therapyMethods:20 RA pts (18 woman, Me;IQR age 61.5(54-66.5) years, disease duration 39.5(20-84) months, mean DAS 28 5.6(4.9-6.8)) received two intravenous RTX biosimilar infusions (600 mg №2) in combination with DMARDs and glucocorticoids. Laboratory biomarkers were assessed at baseline and 24 weeks after the first infusion of RTX. 5 genes (IFI44L, MX1, IFIT 1, RSAD2, EPSTI1) were selected for evaluation of the “interferon signature” (Type I IFN gene signature – IFNGS). IFI44L and IFIT1 expression was undetectable, therefore the remaining three genes (MSX1, EPSTI1, RSAD2) were included into further analysis. IFNGS was calculated as the average expression values of the three selected genes. The control group included 20 age and gender matching healthy donors.Results:The baseline expression levels of MX1-11.48 (5.45-19.38), EPSTI1-12.83 (5.62-19.64), RSAD2-5.16 (2.73-10.4), and IFNGS-10.3 (5.18-17.12) in RA patients were significantly higher compared to healthy donors– 1,26 (0,73-1,6); 1,06 (0,81-1,48); 0,93 (0,72-1,19); 1,09 (0,92-1,42), (p<0.05, respectively). IFNGS was detected in 15 (75%) patients, and was not found in 5 (15%) patients. RTX induced reduction in disease activity, and the level of acute phase reactants (ESR, CRP) after 12 and 24 weeks of therapy, p<0.05 (fig.1). Increased RSAD 2 expression (p<0.05) and a trend to increasing IFNGS levels (p=0.06) were documented in the whole group, and also in patients with moderate treatment effects by week 24. Among patients with a good EULAR response to therapy, changes in expression were not significant (p> 0.05) (fig.1)Figure 1.Conclusion:Expression of IFN-stimulated genes was increased in RA patients compared to healthy donors. Increased RSAD2 and IFNGS expression was documented in patients with moderate effect of RTX therapy, therefore, these findings have important clinical relevance as predictors of RA clinical course which necessitates personified approach to treatment.Disclosure of Interests:None declared

scholarly journals Association of interleukin-17A rs2275913 polymorphism with rheumatoid arthritis susceptibility in Sudanese population

2021 ◽  
Vol 9 ◽  
pp. 205031212110202
Author(s):  
Rgda Mohamed Osman ◽  
Mounkaila Noma ◽  
Abdallah Elssir Ahmed ◽  
Hanadi Abdelbagi ◽  
Rihab Ali Omer ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Confidence Interval ◽  
Statistical Tests ◽  
Demographic Data ◽  
Control Group ◽  
P Value ◽  
Case Group ◽  
Molecular Technique ◽  
Interleukin 17A ◽  
Significant Difference

Objectives: Rheumatoid arthritis is a chronic inflammatory autoimmune disease. This study aimed to determine the association of interleukin-17A-197G/A polymorphism with rheumatoid arthritis in Sudanese patients. Methods: A case–control study was conducted between March and December 2018. Clinical and demographic data of the study participants were collected and analyzed. Polymerase chain reaction restriction fragment length polymorphism molecular technique was done to investigate interleukin-17A-197G/A polymorphisms. All statistical tests were considered statistically significant when p < 0.05. Results: The study population included 266 participants aged between 1 and 85 years, with an average of 40 years, classified into 85 (31.2%) cases (mean age 48.5 ± 11.3 years), and 181 (68.8%) controls (mean age 35.3 ± 15.9 years). The interleukin-17A homozygote AA genotype was more frequent among the control group compared to the case group; 95 (52.5%) and 7 (8.2%), respectively. The homozygote GG and the heterozygote AG genotypes were proportionally not different among the cases and control groups; 13 (54.2%) and 11 (45.8%), and 65 (46.4%) and 75 (53.6%), respectively. According to the distribution of interleukin-17A genotypes, a statistically significant difference was observed among cases with the interleukin-17A AA and AG genotypes, p values 0.001 and 0.004, respectively. For the association interleukin-17A genotypes and family history a negatively significant association was reported (95% confidence interval, –0.219, p value = 0.001). There was also a negatively significant association of interleukin-17A genotypes and anti-cyclic citrullinated peptide (95% confidence interval, −0.141, p value = 0.002). Conclusion: This study is the first study in Sudan established the association between interleukin-17A-197G/A (rs2275913) polymorphisms and susceptibly to rheumatoid arthritis. These findings appeal for further research in Sudan to investigate the exact role of IL-17A in immunopathology and disease severity among Sudanese rheumatoid arthritis

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