Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas
Serdar Öztuzcu, Ali Bay, Gülper Nacarkahya, Mustafa Ulaşlı, Elif Aktekin, Sinan Akbayram, Murat Korkmaz, Füsun Taşgül, Ahmet Arslan
J Clin Exp Invest 2016;7(4):265-268.
https://doi.org/10.5799/jcei.328520
Research Article
[Abstract]
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ABSTRACT
Introduction: Beta-thalassemia is the most common autosomal recessive disease. More than 200 different mutations determined in beta-globin gene. Beta thalassemia disease has a severe clinical picture. Treatment of the diseases should be maintained properly otherwise quality of life and life period can be affected. In this study, we tried to reveal inherited beta-thalassemia mutations in surrounding areas of Gaziantep.
Material and Methods: In this study, we included 208 patients who applied with beta -thalassemia suspicion to the pediatric hematology clinic (age range 4-14). In that study, 138 patients with homozygous mutations and 70 patients’ heterozygous mutations were identified. HBB gene was sequenced by Sanger DNA Sequencing method.
Results: Most common homozygote mutations are IVS I-110 G>A, IVS I-1 G>A, IVS II-1 G>A, the heterozygote mutations are IVS I-110 G>A, IVS II-1 G>A, codon 8 (AA) del. The incidence of IVS 1.110 (G>A) mutation is 24%, 28 in homozygote patients, 29.7% in heterozygote patients. The 8% homozygote patients and 19.7% heterozygote patients were effected with IVS 1.110 (G>A) mutation.
Conclusion: The consanguinity marriages are very abundant particularly in our region due to fact that we are able to see many autosomal recessive diseased in our region. Reducing incidence of autosomal recessive disease by given genetic counseling could help the solution but it is still a major problem. J Clin Exp Invest 2016; 7(4): 265-268
Keywords: Beta Thalassemia, Beta-globin, HBB
Evaluation of Follow-up Results in Children with Henoch-Schönlein Purpura
Dursun Eryılmaz, Aydın Ece
J Clin Exp Invest 2016;7(4):269-277.
https://doi.org/10.5799/jcei.328558
Research Article
[Abstract]
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ABSTRACT
Objective: The aim of this study was to investigate long-term follow-up results of children Henoch-Schönlein purpura (HSP).
Methods: 102 children (66 boys and 36 girls) with HSP followed up at Pediatric Department of Dicle University Faculty of Medicine between 1996 and 2002 were included. Demographic, clinical and laboratory characteristics of children, treatment modalities and complications were reviewed from the follow-up charts of patients. Fourty-eigth children who came to control after a period of 40.8±19.9 months underwent a thorough clinical and laboratory work up. Clinical and laboratory findings accompanying specific organ involvements were investigated.
Results: In total, 91.2% had purpuric eruption, 62.7% had gastrointestinal system (GIS) involvement, 28.4% had renal involvement and 43.1% had arthritis. Triggering factors were upper respiratory tract infection in 55%, vaccination in 2 and drugs in 2 patients. Gastrointestinal involvement was significantly more frequent in children with high immunglobulin A levels (p=0.012), renal involvement was significantly more frequent in children with high erythrocyte sedimentation rate (p=0.006). GIS involvement was more frequent in patients over 7 years (p<0.05). Significant correlations were found between renal involvement and leukocytosis, thrombocytosis and high C-reactive protein levels (p<0.05). Mean healing period of the disease was 17.89.2 days. First relapses occurred in 42 patients (41.2%) with skin eruptions and in 33 (32.4%) with abdominal discomfort. Symptoms and signs were relapsed two times in 12 patients and three times in 13. The existence of hypertension, older age, low C3 levels were found to be associated with renal involvement in logistic regression analysis (p<0.05).
Conclusion: Increased IgA level and age over 7 were associated with GIS involvement, while high acute phase reactants and older age were found to be related with renal involvement. J Clin Exp Invest 2016; 7(4): 269-277.
Keywords: Henoch-Schönlein Purpura, children, clinical findings, laboratory findings, follow up results
A Therapeutic Challenge: Management of Atrial Thrombus
Serkan Burc Deser, Mustafa Kemal Demirag
J Clin Exp Invest 2016;7(4):278-282.
https://doi.org/10.5799/jcei.328366
Research Article
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ABSTRACT
Introduction: Primary cause of atrial thrombi include atrial fibrillation, foreign bodies inside the atrium such as catheters and pacemaker leads, emboli of deep venous thrombus and primary or metastatic tumors of the heart. We review the clinical features, epidemiology, diagnosis and treatment of nine intriguing cases with atrial thrombus.
Methods: This is a retrospective study of nine patients (seven female (78%), two male (33%)) who were diagnosed with atrial thrombi (average age of 50 ± 12 years) and were treated at the Ondokuz Mayis University, Department of Cardiovascular Surgery from February 2014 to January 2015. Among them, six patients had atrial fibrillation (one male, five female), seven patients were suffering from dispne and orthopnoea, five patients were suffering from leg swelling, seven patients had a history of hypertension and three patients had a history of mitral valve replacement surgery.
Results: All patients underwent surgery except one. Four patients recovered uneventfully and discharged with oral anticoagulation (warfarin) therapy (adjusted to maintain an international normalized ratio of INR between two and three times). Five of nine patients (55%) died after surgery.
Conclusion: The response to the thrombolytic therapy is poor, mostly ineffective and unsafe so it is often recommended as a bridge to surgery. In patients diagnosed with mechanical mitral valve thrombosis, medical therapy has the possibility of end organ emboli and also fail to resolve the organised thrombus on the stuck valve. On the other hand surgery does not always give satisfactory results. J Clin Exp Invest 2016; 7(4): 278-282
Keywords: Thrombus, atrium, treatment
Impact of Stent-Assisted Recanalization of Carotid Artery Stenosis on Brain Volume Changes
Ömer Fatih Nas, Aylin Bican Demir, Mustafa Bakar, Güven Özkaya, Emre Kaçar, Bahattin Hakyemez
J Clin Exp Invest 2016;7(4):283-289.
https://doi.org/10.5799/jcei.328500
Research Article
[Abstract]
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ABSTRACT
Objective: The purpose of this study was to investigate the effect of recanalization on stenotic internal carotid artery on brain volume changes in stent applied patients.
Materials and Methods: Carotid stenting was performed in 17 patients with severe carotid artery stenosis between June 2013 and April 2014. High resolution 3D T1 weight images were obtained from each patient 24 hours before and 7.2 ± 3.6 months (mean ± standard deviation) after the procedure on a 3T magnetic resonance imaging scanner. Intracranial total cortical grey matter, total cortical white matter, white matter hypointensity, total intraventricular and subcortical grey matter volumes were assessed by FreeSurfer version 4.5.0.
Results: A significant reduction was found in total cortical white matter and subcortical grey matter volumes (p<0.05). A significant increase was found in white matter hypointensity and total intraventricular volumes after procedure (p<0.05). However, no statistical significant difference was found in total cortical grey matter volume before and after procedure (p=0.902).
Conclusion: The significant reduction in the postoperative intracranial total cortical white matter and subcortical grey matter volumes and the significant increase in the white matter hypointensity volume were considered to be secondary to neuronal damage. J Clin Exp Invest 2016; 7(4): 283-289
Keywords: Brain volume changes, carotid stenosis; magnetic resonance imaging
Coexistence of RS3PE Syndrome and Ankylosing Spondylitis in a Young Male
Erdem İlgün, Murat Zümrüt, Fethi Demir, Murat Yıldız, Mustafa Keleş
J Clin Exp Invest 2016;7(4):290-293.
https://doi.org/10.5799/jcei.328529
Case Report
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The RS3PE syndrome is the inflammatory rheumatisms of old age, being related to rheumatoid arthritis. Etiology and pathogenesis of this disease is not fully understood and usually seen over 50 years of age and characterized by recurrent symmetrical pitting type edema. We present a case whose clinical symptoms and laboratory findings are compatible with the RS3PE in young male with ankylosing spondylitis. J Clin Exp Invest 2016; 7(4): 290-293
Keywords: Ankylosing spondylitis, pitting edema, symmetric synovitis
Letter to Editor: Prognostic Value of Mean Platelet Volume and Platelet to Lymphocyte Ratio in Laryngeal Carcinoma
Sefa Çiftci
J Clin Exp Invest 2016;7(4):294-295.
https://doi.org/10.5799/jcei.328537
Letter to Editor
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ABSTRACT
Mean thrombocyte volume (MPV) and platelet lymphocyte ratio (PLR) from platelet indices used to assess platelet activation and function have been associated with a number of diseases in recent years. Laboratory studies should be considered when evaluating MPV and PLR tests. More detailed studies on MPV and PLR is needed in Laryngeal Carcinoma. J Clin Exp Invest 2016; 7(4): 294-295
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