The Genotypes of α-Thalassemia and Genotypes Frequencies of α- Thalassemia in Western Aegean Region

Yaygın görülen bir tek gen hastalığı olan Alfa talasemi, α-globin zincirinin kusurlu sentezi ile ortaya çıkar. Globin genlerindeki bozukluklara bağlı olarak çok geniş bir klinik spektruma yayılan bu hastalıkta çok sayıda belirlenmemiş taşıyıcı olduğu düşünülmektedir. Klinik semptomu olmayan sessiz taşıyıcılardan, rahim içinde ölüme yol açan şiddetli anemi ile kendini gösteren, çok değişken bulgulara sahip genetik bir hastalıktır. Bu çalışmada bu amaçla alfa globin gen mutasyonu sıklığının ve tiplerinin bulunması ve varyasyon saptanan bireylerdeki fenotipik etkiyi görmek amaçlandı. Gereç ve Yöntemler: HBA1 ve HBA2 genlerindeki intron bölgelerini çevreleyen tüm kodlama bölgesi sanger dizileme ile tespit edildi. Delesyonlar ve duplikasyonlar multipleks ligasyona bağımlı prob amplifikasyonu (MLPA) ile mutasyonlar tespit edildi. Bulgular: Bölgemizde en sık rastlanan mutasyon tipi olan -3,7 / (%23,18), 3.7 kb’lık delesyon çalışmamızda da en sık olarak görülürken, diğer mutasyonların dağılımı ise --3,7 (%6,82), -3,7/-- MED (%0,91), --MED (%6,82), --20,5 (3,15), --SEA (%1,36), -4,2 (%0,95), triplikasyon (%0,45) ve nükleotid değişimleri (%4,55) olarak tespit edilmiştir. Sonuç: Mevcut bilgiler ışığında genotipin fenotipe yansımasının da farklılıklar olması nedeniyle taşıyıcı bireylerin tesbit edilmesi ve genotip fenotip ilişkisinin netleştirilmesi açısından daha geniş popülasyon taramasına ihtiyaç duyulmaktadır. Toplumu alfa talasemi ve ağır klinik seyreden genetik hastalıklar hakkında bilinçlendirmek için taşıyıcı bireylere genetik danışmanlık verilmesi ve genetik çalışmalara ağırlık verilmesi bir gerekliliktir.Alpha-thalassemia, a common single gene disorder, is caused by defective synthesis of the α-globin chain. It is thought to have a wide clinical spectrum due to defects in globin genes and a large number of indeterminate carriers. It is a genetic disease with highly variable findings ranging from silent carriers with no clinical symptoms to severe anemia leading to in utero death. In this study, we aimed to determine the frequency and types of alpha globin gene mutations and to observe the phenotypic effect in individuals with mutations. Material and Methods: The coding and intron regions of HBA1 and HBA2 genes were determined by Sanger sequencing. Deletions and duplications were detected by multiplex ligation-dependent probe amplification (MLPA). Results: This research shows that -3,7 / (%23.18),3.7 kb is the most common mutation type in our deletion research/analysis, and distribution of other mutations is as follows: --3,7 (%6.82), -3,7 / -- MED (%0,91), --MED (%6.82), --20,5 (3.18), --SEA (%1.36), -4,2 (%0.95). This research also demonstrates that triplication is at %0.45 and nucleotide mutation is %4.55. Conclusion: In the light of the available information, since there are differences in the reflection of genotype to phenotype, a larger population screening is needed to identify carrier individuals and to clarify the genotype-phenotype relationship. In order to raise public awareness about alpha thalassemia and genetic diseases with severe clinical course, it is a necessity to provide genetic counseling to carrier individuals and to focus on genetic studies

Evaluation of patients with fibrotic interstitial lung disease: Preliminary results from the Turk-UIP study

OBJECTIVE: Differential diagnosis of idiopathic pulmonary fibrosis (IPF) is important among fibrotic interstitial lung diseases (ILD). This study aimed to evaluate the rate of IPF in patients with fibrotic ILD and to determine the clinical-laboratory features of patients with and without IPF that would provide the differential diagnosis of IPF. MATERIAL AND METHODS: The study included the patients with the usual interstitial pneumonia (UIP) pattern or possible UIP pattern on thorax high-resolution computed tomography, and/or UIP pattern, probable UIP or possible UIP pattern at lung biopsy according to the 2011 ATS/ERSARS/ALAT guidelines. Demographics and clinical and radiological data of the patients were recorded. All data recorded by researchers was evaluated by radiology and the clinical decision board. RESULTS: A total of 336 patients (253 men, 83 women, age 65.8 +/- 9.0 years) were evaluated. Of the patients with sufficient data for diag-nosis (n=300), the diagnosis was IPF in 121 (40.3%), unclassified idiopathic interstitial pneumonia in 50 (16.7%), combined pulmonary fibrosis and emphysema (CPFE) in 40 (13.3%), and lung involvement of connective tissue disease (CTD) in 16 (5.3%). When 29 patients with definite IPF features were added to the patients with CPFE, the total number of IPF patients reached 150 (50%). Rate of male sex (p<0.001), smoking history (p<0.001), and the presence of clubbing (p=0.001) were significantly high in patients with IPE None of the women <50 years and none of the men <50 years of age without a smoking history were diagnosed with IPE Presence of at least 1 of the symptoms suggestive of CTD, erythrocyte sedimentation rate (ESR), and antinuclear antibody (FANA) positivity rates were significantly higher in the non-IPF group (p<0.001, p=0.029, p=0.009, respectively). CONCLUSION: The rate of IPF among patients with fibrotic ILD was 50%. In the differential diagnosis of IPF, sex, smoking habits, and the presence of clubbing are important. The presence of symptoms related to CTD, ESR elevation, and EANA positivity reduce the likelihood of IPF

Zhodnocení výsledků použití stehu s kotvičkou v operační léčbě inveterovaného kladívkového prstu ruky

PURPOSE OF THE STUDYThe purpose of this study is to evaluate the results of chronic tendinous mallet finger repair with all soft suture anchors.MATERIAL AND METHODSIn this retrospective study we evaluated 14 patients. Data included age, side of surgery, the degree of extensor lag, the ratio of the damaged articular surface, postoperative recovery period and time to return to work. We recorded extensor lag and Crawford scores of all patients at the last follow-up.RESULTSMean follow-up period was 22.07 months. The preoperative and postoperative extensor lags were 27.2 (15-35) and 3 (0-19), respectively. Crawford scores of patients were moderate in 1 patient, fair in 2 patients and excellent in 10 patients. We observed only one skin complication in the postoperative period.CONCLUSIONSAll-soft suture anchors have high patient satisfaction rates and functional results. Thus, they could be used in the treatment of patients with chronic tendinous mallet finger. The low complication rate is a major advantage

Türk Dil Kurumunun kuruluşu ve Türkiye’de dilin özleşmesindeki rolü

Ankara : İhsan Doğramacı Bilkent Üniversitesi İktisadi, İdari ve Sosyal Bilimler Fakültesi, Tarih Bölümü, 2015.This work is a student project of the The Department of History, Faculty of Economics, Administrative and Social Sciences, İhsan Doğramacı Bilkent University.by Ünsal, Mehmet Süha

Efektivní technika léčení zlomenin krčku femuru – osteosyntéza s využitím zdvojené fluoroskopie

PURPOSE OF THE STUDY The most commonly used technique for fixation of the femoral neck fractures is percutaneous osteosynthesis with cannulated screw under fluoroscopy guidance. Osteosynthesis performed under single-fluoroscopic guidance requires continuous repositioning the fluoroscope to obtain biplane imaging. This study aimed to evaluate whether there is a statistically significant difference between the osteosynthesis procedures performed under guidance of single-fluoroscopy and double fluoroscopy with respect to radiation emission safety and treatment parameters for fixation of femoral neck fractures. MATERIAL AND METHODS This retrospective study included 35 patients operated for femoral neck fracture between December 2013 and October 2017. Osteosynthesis was performed in 21 of these patients using cannulated screw under guidance of single-fluoroscopy whereas other 14 patients underwent same type of osteosynthesis assisted by double-fluoroscopy. The parameters of these two groups such as duration of surgery preparation, duration of the surgery, duration of radiation exposure, collo-diaphyseal angle and Harris hip score values were recorded. RESULTS No significant difference was found between the groups regarding time for surgery preparation (p > 0.05). On the other hand, duration of surgery and overall duration of radiation exposure were found 14 (p 0.05). CONCLUSIONS Use of double-fluoroscopy significantly reduces time of surgical duration and also level of radiation exposure in surgery of femoral neck fractures. Key words:double fluoroscopy, femoral neck fractures, radiation, osteosynthesis, cannulated screw

Akutní poranění postranního ulnárního vazu základního kloubu palce - primární ošetření suturou pomocí měkké mini kotvy (JuggerKnot™)

PURPOSE OF THE STUDY We aimed to investigate the functional outcomes and complications of a new approach, the primary UCL repair using JuggerKnot™ Soft Anchor-1.0 mm Mini (Zimmer-Biomet). MATERIAL AND METHODS This study included a total of 12 patients with acute UCL injury who were operated with primary repair with JuggerKnot™ Soft Anchor-1.0 mm Mini between January 2012 and September 2016. All patients were operated on using the same surgical technique. The thumb pinch and grip strengths, articular range of motion, and Glickel functional score were recorded for all patients. The pinch grip strength and articular range of motion were compared with the intact side. Early and late postoperative complications were recorded. RESULTS The mean follow-up time was 22.2 months (range 6-54 months). The grip strength and the pinch strength were 94.3% and 92.27%, respectively, of the contralateral side. Articular range of motion attained the same level as the contralatereal side in all patients at the final visit, and no patient suffered from any complication. The patients returned to work at a mean of 5.45 weeks, and the Glickel score was good in 1 patient and excellent in the remainder 11 patients. CONCLUSIONS Surgical repair using the JuggerKnot™ Soft Anchor-1.0 mm is an effective alternative treatment method for acute total ulnar collateral ligament (UCL) rupture

The Diagnostic Value of the Modified mSIS Score in Predicting Sentinel Axillary Lymph Node Positivity in Patients with Early-Stage Breast Cancer

Axillary lymph node metastasis is the most important prognostic factor in breast cancer. No method exists to diagnose the metastasis of the axillary lymph nodes before surgery.  Sentinel lymph node biopsy is a procedure for axillary staging. Hematological parameters and systemic inflammation play a role in cancer metastasis. This study aims to evaluate the modified Systemic Inflammation Score (mSIS) score predicting sentinel axillary lymph node positivity in early breast cancer patients and to determine if there is a need to modify it. This is a retrospective study conducted in Ankara City Hospital General Surgery Department from March 2019 to July 2021.  One hundred fifty-nine patients were analyzed according to age, albumin parameters, Thrombocyte, Lymphocyte and Monocyte count, histopathological type of cancer, and lymph node metastasis status. The collected information was entered into SPSS 24.0 program. Lymph node metastasis was detected in 51 of these 159  patients. Results showed no significant difference between the lymph node metastasis group and no lymph node metastasis group after applying the mSIS score to each group. This result is due to normal albumin levels in early breast cancer patients. Platalet lymphocyte ratio (PLR) is associated with lymph node metastasis in breast cancer. PLR is applied to mSIS score instead of albumin.The  new modified early-stage breast cancer SIS(mebcSIS) was established as follows: Score 0: LMR ≥ 5.7 and PLR &lt; 141, Score 1: LMR &lt; 5.7 or PLR ≥ 141, Score 2: LMR &lt; 5.7 or PLR ≥ 141. The relationship between mebcSIS and LNM was statistically significant (p = 0.003). There is a positive correlation between mebcSIS score and lymph node metastasis in early breast cancer patients.