scholarly journals Connexin 26 (GJB2) Gene Mutations Linked With Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in Iraqi Population.

Author(s):  
Anwar Madlool Al-janabi ◽  
Habeeb Shuhaib Ahmmed ◽  
Salih Mahdi Alkhafaji

Abstract Objectives: The ARNSHL wasn’t been studied enough in Iraq, this study aimed to detect the prevalence of the three most common mutations of Connexin 26 gene in Iraqi population. This study was conducted in order to detect c.35delG, c.235delC and c.167delT mutations in GJB2 gene, we were employed PCR-RFLP assays.Results: The current case-control study was conducted from January 2018 to January 2020, The study was included 95 deaf patients (55 males and 40 females) their age range between 11-40 years and 21.5 ± 6.3 year (mean ± SD) and 110 healthy control group, their ages range between 10-40 years and 20.1 ± 5.9 year (mean ± SD), these two groups were matched in age and gender. From 95 deaf patients with ARNSHL who were participated in this study, c.35delG was the main frequent mutation encountered with GJB2 gene, The second frequent mutation was c.235delC, None of 95 deaf patients were showed the c.167delT mutation, these variants were not detected in healthy control group which was studied parallel with patients group. Our data conclude that GJB2 c.35delG and c.235delC gene mutations were the main cause of ARNSHL in Iraqi deaf population.

2021 ◽  
Author(s):  
Anwar Madlool Al-janabi ◽  
Habeeb Shuhaib Ahmmed ◽  
Salih Mahdi Alkhafaji

Abstract Objective: This study aimed to detect the frequency of the three most common mutations of GJB2 in nonsyndromic sensorineural deafness for Iraqi population.Method: The current case-control study was conducted from January 2018 to November 2019 at ENT Departments from middle Euphrates region of Iraq. The study was included 95 deaf patients group (55 males and 40 females) their age range between 11-40 years old and 21.5 ± 6.3 year (mean ± SD). and 110 healthy control group, their ages range between 10-40 years old and 20.1 ± 5.9 year (mean ± SD), these two groups were matched in age and gender. In order to detect c.35delG, 235delC and 167delT mutations in GJB2 gene, we were employed the polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP) technique.Results: From 95 deaf patients with non syndromic hearing loss (NSHL), were participated in this study. The c.35delG was the main frequent mutation encountered with GJB2 gene, of the 95 patients, 38(40%) were heterozygous and the others 57(60%) were homozygous genotypes. The second degree mutation in GJB2 gene was c.235delC mutation. Which from the 95 deaf patients, 35 (36.8%) were carried out homozygous, 5 (5.3%) were carried out heterozygous and 55(57.9) of the study individuals were appeared wild genotypes. None of the 95 deaf patients were showed the c.167delT mutation, while Connexin 26 studied mutations were not detected in healthy control group.Conclusion: Our data conclude that the GJB2 c.35delG and c.235delC gene mutations were the main cause of congenital hearing loss in Iraqi deaf population.


2021 ◽  
Author(s):  
Anwar Madlool Al-janabi ◽  
Habeeb Shuhaib Ahmmed ◽  
Salih Mahdi Al-Khafaji

Abstract Background:Deafness is a total or partial hearing loss that may appear at any ages with different degrees of severity. Approximately 50% of hearing loss have a genetic origin, among them, the nonsyndromic sensorineural deafness represents about 70% of the cases. From them 80% corresponding to autosomal recessive inheritance deafness. Objective: Autosomal recessive deafness was not been studied enough at molecular level in Iraq, so this study aimed to detect the prevalence of the three most common mutations of Connexin 26 (GJB2) gene in nonsyndromic sensorineural deafness for Iraqi population.Method: The current case-control study was conducted from January 2018 to January 2020 at molecular laboratory in Anatomy and Histology Department/ faculty of Medicine/ Kufa University/Najaf/ Iraq. The study was included 95 deaf patients (55 males and 40 females) their age range between 11-40 years old and 21.5 ± 6.3 year (mean ± SD) and 110 healthy control group, their ages range between 10-40 years old and 20.1 ± 5.9 year (mean ± SD), these two groups were matched in age and gender. In order to detect c.35delG, 235delC and 167delT mutations in GJB2 gene, we were employed the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) technique.Results: From 95 deaf patients with ARNSHL who were participated in this study, the c.35delG was the main frequent mutation encountered with GJB2 gene, among them 35(36.8%) were homozygous, 40(42.1%) were heterozygous and 20 (21.1%) were wild genotypes. The second degree mutation in GJB2 gene was c.235delC mutation, which from the 95 deaf patients, there were 21 (22.1%) carried out homozygous, 33 (34.7%) heterozygous and 42(44.2%) wild genotypes. None of the 95 deaf patients were showed the c.167delT mutation, on the other hand these variants were not detected in healthy control group which was studied parallel with patients group.Conclusion: Our data conclude that the GJB2 c.35delG and c.235delC gene mutations were the main cause of ARNSHL in Iraqi deaf population.


2018 ◽  
Vol 49 (1) ◽  
pp. 15-19
Author(s):  
Ersin Kasim Ulusoy

AbstractPurposeMean platelet volume (MPV) is an indicator of platelet (Plt) function and activation. The purpose of this study is to demonstrate whether MPV and MPV/Plt ratio, indicators of Plt activation, are increased in migraine patients, compared to tension-type headache (TTH) and healthy control groups, in our large-scale study, and whether these two primary headache types with unknown pathophysiology may be differentiated by using MPV and MPV/Plt ratio.Materials and methodsEighty patients diagnosed with migraine as per the 2004 diagnosis criteria of the International Headache Society (IHS), 80 patients with TTH who have applied to the Neurology Clinic of our hospital, and 80 healthy subjects who have applied to the Family Practice Clinic and Blood Bank were enrolled in this study. MPV and MPV/Plt ratio in both patients of similar age and gender who were diagnosed with migraine as well as in the TTH group and healthy control group were compared.FindingsThe MPV/Plt ratio was 0.046±0.008 in migraine patients, 0.037±0.009 in patients with TTH, and 0.036±0.009 in the healthy control group. This difference was statistically significant (p<0.05). The cutoff value of MPV/Plt ratio for differentiating migraine and TTH was 0.037. The sensitivity of this value was 92.5%, while specificity was 55%.Conclusion We have demonstrated that the most commonly confused primary headache types may be differentiated by using MPV and MPV/Plt ratio, and therefore, the disability caused by migraine and unsuitable, unnecessary, and long-term drug therapies may be avoided in patients.


QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Nayera H El-Sherif ◽  
Mona .F Hassan ◽  
Sara M Makkeyah ◽  
Marwa G Ibrahim

Abstract Background Autoimmune cytopenias are characterized by the production of autoantibodies against differentiated hematopoietic cells because of defects in central and/or peripheral tolerance. It includes autoimmune hemolytic anemia (AIHA), immune thrombocytopenic purpura (ITP), autoimmune proliferative syndrome (ALPS) and Evans syndrome (EV). Aim of the Work to compare levels of sCTLA-4 in different types of immune cytopenias and their control. Patients and Methods Forty seven children and adolescents who have autoimmune cytopenias were recruited and assessed for eligibility in Pediatric Hematology Clinic, Ain Shams University Children’s Hospital and forming a patients group with age range 8 – 204 months old. An age and sex matched healthy control group were recruited including forty seven healthy participants with age range 6 – 156 months old. Results On initial examination in our study, the prevalence of hepatosplenomegaly and lymphadenopathy among the patients group was 27.7% and 2.1% respectively. Autoimmune cytopenic patients group have statistically significant higher serum sCTLA-4 levels (range 1 – 82 ng/ml) than control group (range 0 – 9 ng/ml) (where P &lt; 0.01 HS). On the other hand, there was no significant difference when comparing levels of sCTLA-4 between sera of ITP, AIHA and ALPS patients (P &gt; 0.05). Serum sCTLA-4 was inversely related to the age at diagnosis and positively related to disease duration. Our results demonstrated the presence of correlations between the levels of sCTLA4 and the severity of autoimmune cytopenias (negative correlation with Hemoglobin (R= -0.315; P = 0.031), mean Hemoglobin (last year) (R= -0.471; P = 0.001) and platelet (R= -0.324; P &lt; 0.05)) and (positive correlation between levels of sCTLA-4 and Reticulocyte count (R = 0.413; P = 0.004), Indirect Bilirubin (R = 0.427; P = 0.003) and Lactate dehydrogenase (R = 0.357; P = 0.014)). There was a significant differences in the prevalence of hepatosplenomegaly among ITP, AIHA and ALPS patients (P &lt; 0.05) with higher prevalence among ALPS patients. Conclusion Soluble form of CTLA4 (sCTLA4) presents in elevated levels in the sera of children and adolescents who have autoimmune cytopenia including AIHA/Evans, ITP and ALPS compared to healthy control group that suggests sCTLA4 could play a role in the pathogenesis of immune cytopenias.


2016 ◽  
Vol 86 (1-2) ◽  
pp. 9-17 ◽  
Author(s):  
Bekir Ucan ◽  
Mustafa Sahin ◽  
Muyesser Sayki Arslan ◽  
Nujen Colak Bozkurt ◽  
Muhammed Kizilgul ◽  
...  

Abstract.The relationship between Hashimoto’s thyroiditis and vitamin D has been demonstrated in several studies. The aim of the present study was to evaluate vitamin D concentrations in patients with Hashimoto’s thyroiditis, the effect of vitamin D therapy on the course of disease, and to determine changes in thyroid autoantibody status and cardiovascular risk after vitamin D therapy. We included 75 patients with Hashimoto’s thyroiditis and 43 healthy individuals. Vitamin D deficiency is defined as a 25-hydroxy vitamin D (25(OH)D3) concentration less than 20ng/mL. Vitamin D deficient patients were given 50.000 units of 25(OH)D3 weekly for eight weeks in accordance with the Endocrine Society guidelines. All evaluations were repeated after 2 months of treatment. Patients with Hashimoto’s thyroiditis had significantly lower vitamin D concentrations compared with the controls (9.37±0.69 ng/mL vs 11.95±1.01 ng/mL, p < 0.05, respectively). Thyroid autoantibodies were significantly decreased by vitamin D replacement treatment in patients with euthyroid Hashimoto’s thyroiditis. Also, HDL cholesterol concentrations improved in the euthyroid Hashimoto group after treatment. The mean free thyroxine (fT4) concentrations were 0.89±0.02 ng/dL in patients with Hashimoto’s thyroiditis and 1.07±0.03 ng/dL in the healthy control group (p < 0.001). The mean thyroid volumes were 7.71±0.44 mL in patients with Hashimoto’s thyroiditis and 5.46±0.63 mL in the healthy control group (p < 0.01). Vitamin D deficiency is frequent in Hashimoto’s thyroiditis and treatment of patients with this condition with Vitamin D may slow down the course of development of hypothyroidism and also decrease cardiovascular risks in these patients. Vitamin D measurement and replacement may be critical in these patients.


2020 ◽  
Vol 22 (9) ◽  
pp. 657-662 ◽  
Author(s):  
Mustafa Celik ◽  
Alper Şen ◽  
İsmail Koyuncu ◽  
Ataman Gönel

Aim and Objective:: To determine the mechanisms present in the etiopathogenesis of nasal polyposis. It is not clear whether amino acids contribute in a causal way to the development of the disease. Therefore, the aim of this study was to determine the plasma-free amino acid profile in patients with nasal polyposis and to compare the results with a healthy control group. Materials and Methods:: This was a prospective controlled study that took place in the Otolaryngology Department at the Harran University Faculty of Medicine between April 2017 and April 2018. Plasmafree amino acid profile levels were studied in serum samples taken from a patient group and a healthy control group. Patients who were diagnosed with bilateral diffuse nasal polyposis and were scheduled for surgical interventions were included in this study. Individuals whose age, gender, and body mass index values were compatible with that of the patient group and who did not have any health problems were included in the control group. All the participants whose levels of plasma-free amino acid were thought to be affected by one or more of the following factors were excluded from the study: smoking and alcohol use, allergic rhinitis presence, the presence of acute or chronic sinusitis, a history of endoscopic sinus surgery, unilateral nasal masses, a history of chronic drug use, systemic or topical steroid use in the last three months for any reason, and liver, kidney, hematological, cardiovascular, metabolic, neurological, or psychiatric disorders or malignancies. Results: In patients with nasal polyposis, 3-methyl histidine (3-MHIS: nasal polyposis group (ng) = 3.22 (1.92 – 6.07); control group (cg) = 1.21 (0.77 – 1.68); p = 0.001); arginine (arg: ng = 98.95 (70.81 – 117.75); cg = 75.10 (54.49 – 79.88); p = 0.005); asparagine (asn: ng = 79.84 (57.50 – 101.44); cg = 60.66 (46.39 – 74.62); p = 0.021); citrulline (cit: ng = 51.83 (43.81 – 59.78); cg = 38.33 (27.81 – 53.73); p = 0.038); cystine (cys: ng = 4.29 (2.43 – 6.66); cg = 2.41 (1.51 – 4.16); p = 0.019); glutamic acid (glu: ng = 234.86 (128.75 – 286.66); cg = 152.37 (122.51 – 188.34); p = 0.045); histidine (his: ng = 94.19 (79.34 – 113.99); cg = 74.80 (62.76 – 98.91); p = 0.018); lysine (lys: ng = 297.22 (206.55 – 371.25); cg = 179.50 (151.58 – 238.02); p = 0.001); ornithine (ng = 160.62 (128.36 – 189.32); cg = 115.91 (97.03 – 159.91); p = 0.019); serine (ser: ng = 195.15 (151.58 – 253.07); cg = 83.07 (67.44 – 92.44); p = 0.001); taurine (tau: ng = 74.69 (47.00 – 112.13); cg = 53.14 (33.57 – 67.31); p = 0.006); tryptophan (trp: ng = 52.31 (33.81 – 80.11); cg = 34.44 (25.94 – 43.07); p = 0.005), homocitrulline (ng = 1.75 (1.27 – 2.59); cg = 0.00 (0.00 – 0.53); p = 0.001); norvaline (ng = 6.90 (5.61 – 9.18); cg = 4.93 (3.74 – 7.13); p = 0.021); argininosuccinic acid (ng = 14.33 (10.06 – 25.65); cg = 12.22 (5.77 – 16.87) p = 0.046); and plasma concentrations were significantly higher than in the healthy control group (p <0.05). However, the gamma-aminobutyric acid (gaba: ng = 0.16 (0.10 – 0.24); cg = 0.21 (0.19 – 0.29); p = 0.010) plasma concentration was significantly lower in the nasal polyposis group than in the healthy control group. Conclusion: In this study, plasma levels of 15 free amino acids were significantly higher in the nasal polyposis group than in the healthy control group. A plasma level of 1 free amino acid was found to be significantly lower in the nasal polyposis group compared to the healthy control group. Therefore, it is important to determine the possibility of using the information obtained to prevent the recurrence of the condition and to develop effective treatment strategies. This study may be a milestone for studies of this subject. However, this study needs to be confirmed by further studies conducted in a larger series.


2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuan-Yuan Gong ◽  
Hai-Ying Peng

Abstract Background To investigate the correlation between the thickness of epicardial adipose tissue (EAT), C-reactive protein (CRP), interleukin (IL) -6, visfatin, juxtaposed with another zinc finger protein 1 (JAZF1) and type 2 diabetic mellitus (T2DM) macroangiopathy. Methods The study enrolled 82 patients with T2DM with macroangiopathy (the Complication Group), and 85 patients with T2DM (the Diabetes Group) who were admitted to Shandong Provincial Third Hospital from February 2018 to February 2020. In addition, 90 healthy people who underwent physical examination at the same hospital during the same period were enrolled (the Healthy Control Group). Age, gender, height, weight, waist circumference (WC), hip circumference (HC), diabetic course and therapeutic drugs, waist hip ratio (WHR), and body mass index (BMI) were recorded and calculated. Results The baseline characteristics of the three groups were comparable, and the diabetic course of the Complication Group and the Diabetes Group was not significantly different (P > 0.05). The WHR of the Complication Group was higher than that of the Diabetes Group and the Healthy Control Group, with statistical significance (P < 0.05). The FPG, 2hPG, HbA1C, CRP, IL-6, Visfatin, JAZF1, HOMA-IR, EAT thickness, and baPWV of the Complication Group were all higher than those of the Diabetes Group and the Healthy Control Group (P < 0.05, respectively). The JAZF1 and FIns of the Complication Group and Diabetes Group were lower than those of the Healthy Control Group, and JAZF1 of the Complication Group was lower than the Diabetes Group with statistical significance (P<0.05, respectively). Pearson correlation analysis showed that the EAT thickness was positively correlated with CRP, IL-6, visfatin, and JAZF1 (r = 0.387, 0.451, 0.283, 0.301, respectively, all P<0.001). Pearson correlation analysis showed that baPWV was positively correlated with EAT thickness, CRP, IL-6, visfatin, and JAZF1 (r = 0.293, 0.382, 0.473, 0.286, respectively, all P < 0.001). Multivariate stepwise regression analysis showed that FPG, 2hPG, HbA1C, CRP, IL-6, visfatin, JAZF1, and EAT thickness were independent risk factors that affected T2DM macroangiopathy. Conclusions Clinical monitoring and treatment of T2DM macroangiopathy can use CRP, IL-6, Visfatin, JAZF1, and EAT thickness as new targets to delay the progression of the disease. Further research on the relationship between the above factors and the pathogenesis of T2DM macroangiopathy may be helpful provide new treatment strategies.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mingkun Chen ◽  
Li Zhu ◽  
Miao Xue ◽  
Rongrong Zhu ◽  
Liling Jing ◽  
...  

AbstractTo evaluate the feasibility of serum HMGB1, anti-HMGB1 antibodies, and HMGB1/anti-HMGB1 ratio as a diagnosis indicator of initial clinical classification in patients with fever of unknown origin (FUO). Ninety-four patients with classical FUO and ninety healthy controls were enrolled in this study. The subjects’ clinical data and serum were collected. The serum concentration of HMGB1 was detected by a commercial HMGB1 ELISA kit, while the serum concentration of anti-HMGB1 antibodies were detected by an in-house built anti-HMGB1 antibodies ELISA kit and further confirmed by immunoblotting. According to the hospital diagnosis on discharge, ninety-four FUO patients were divided into four groups, Infectious disease subgroup, autoimmune disease subgroup, malignant tumor subgroup, and undetermined subgroup. The concentrations of HMGB1 in the infectious disease subgroup and autoimmune disease subgroup were higher than those in the malignant tumor subgroup, undetermined subgroup, and healthy control group. The concentration of anti-HMGB1 antibodies in autoimmune disease subtype group was higher than those in other subgroups as well as healthy control group. According to the distribution of HMGB1 and anti-HMGB1 in scatter plots of the patients with FUO, we found that the ratio of serum HMGB1/anti-HMGB1 is an ideal clinical indicator for differential diagnosis of different subtypes of FUO. The best cut-off was 0.75, and the sensitivity, specificity, and AUC were 66.67%, 87.32%, and 0.8, respectively. Correlation analysis showed that serum concentration of HMGB1 was moderately correlated with CRP in infectious diseases subgroup, and the serum concentration of anti-HMGB1 antibodies was strongly correlated with erythrocyte sedimentation rate in autoimmune disease subgroup. Our study had showed that serum HMGB1/anti-HMGB1 antibodies ratio can help clinicians identify FUO subtypes, thereby avoiding many unnecessary examinations and tests, and improving the effectiveness of clinical diagnosis and treatment of FUO.


CNS Spectrums ◽  
2017 ◽  
Vol 24 (03) ◽  
pp. 333-337 ◽  
Author(s):  
Maiara Zeni-Graiff ◽  
Adiel C. Rios ◽  
Pawan K. Maurya ◽  
Lucas B. Rizzo ◽  
Sumit Sethi ◽  
...  

IntroductionOxidative stress has been documented in chronic schizophrenia and in the first episode of psychosis, but there are very little data on oxidative stress prior to the disease onset.ObjectiveThis work aimed to compare serum levels of superoxide dismutase (SOD) and glutathione peroxidase (GPx) in young individuals at ultra-high risk (UHR) of developing psychosis with a comparison healthy control group (HC).MethodsThirteen UHR subjects and 29 age- and sex-matched healthy controls (HC) were enrolled in this study. Clinical assessment included the Comprehensive Assessment of At-Risk Mental States (CAARMS), the Semi-Structured Clinical Interview for DSM-IV Axis-I (SCID-I) or the Kiddie-SADS-Present and Lifetime Version (K-SADS-PL), and the Global Assessment of Functioning (GAF) scale. Activities of SOD and GPx were measured in serum by the spectrophotometric method using enzyme-linked immunosorbent assay kits.ResultsAfter adjusting for age and years of education, there was a significant lower activity of SOD and lower GPX activity in the UHR group compared to the healthy control group (rate ratio [RR]=0.330, 95% CI 0.187; 0.584, p&lt;0.001 and RR=0.509, 95% CI 0.323; 0.803, p=0.004, respectively). There were also positive correlations between GAF functioning scores and GPx and SOD activities.ConclusionOur results suggest that oxidative imbalances could be present prior to the onset of full-blown psychosis, including in at-risk stages. Future studies should replicate and expand these results.


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