Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease. (C) 2019 S. Karger AG, BaselC1 [Yalin, Serkan Feyyaz; Senates, Banu Erkalma; Oruc, Meric; Altiparmak, Mehmet Riza; Seyahi, Nurhan] Istanbul Univ Cerrahpasa, Cerrahpasa Med Fac, Dept Nephrol, Istanbul, Turkey.[Eren, Necmi] Kocaeli Univ, Dept Nephrol, Med Fac, Kocaeli, Turkey.[Sinangil, Ayse; Ecder, Tevfik] Bilim Univ, Dept Nephrol, Med Fac Med, Istanbul, Turkey.[Yilmaz, Vural Taner; Kocak, Huseyin] Akdeniz Univ, Div Nephrol, Med Fac, Antalya, Turkey.[Tatar, Erhan; Uslu, Adam] Bozyaka Training & Res Hosp, Dept Nephrol, Izmir, Turkey.[Ucarf, Ali Riza; Demir, Erol; Caliskan, Yasar; Turkmen, Aydin] Istanbul Univ, Fac Med, Div Nephrol, Istanbul, Turkey.[Sevinc, Mustafa; Basturk, Taner] Sisli Hamidiye Etfal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Can, Ozgur; Ogutmen, Melike Betul] Haydarpasa Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Gurkan, Alp; Kinalp, Can] Medicana, Dept Nephrol, Istanbul, Turkey.[Arik, Nurol] Ondokuz Mayis Univ, Dept Nephrol, Med Fac, Samsun, Turkey.[Ecder, Sabahat Alisir] Medeniyet Univ, Div Nephrol, Goztepe Training & Res Hosp, Istanbul, Turkey.[Uyar, Murathan] Gaziosmanpasa Hosp, Dept Nephrol, Istanbul, Turkey.[Yasar, Murat; Dursun, Belda] Pamukkale Univ, Dept Nephrol, Med Fac, Denizli, Turkey.[Gulcicek, Sibel] Istanbul Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Mese, Meral; Bahcebasi, Zerrin Bicik] Dr Lufti Kirdar Kartal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Dheir, Hamad; Sipahi, Savas; Genc, Ahmed] Sakarya Univ, Dept Nephrol, Tip Med Fac, Sakarya, Turkey.[Cakir, Ulkem] Acibadem Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Cevher, Simal Koksal; Dede, Fatih] Ankara Numune Training & Res Hosp, Dept Nephrol, Ankara, Turkey.[Turkmen, Kultigin] Necmettin Erbakan Univ, Div Nephrol, Meram Med Fac, Konya, Turkey.[Guven, Bahtisen] Bahcesehir Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Taymez, Dilek Guven] Kocaeli State Hosp, Dept Nephrol, Kocaeli, Turkey.[Yelken, Berna] Mem Hosp, Dept Nephrol, Istanbul, Turkey

Baseline clinical characteristics and patient profile of the TURKMI registry: Results of a nation-wide acute myocardial infarction registry in Turkey

Objective: The TURKMI registry is designed to provide insight into the characteristics, management from symptom onset to hospital discharge, and outcome of patients with acute myocardial infarction (MI) in Turkey. We report the baseline and clinical characteristics of the TURKMI population. Methods: The TURKMI study is a nation-wide registry that was conducted in 50 centers capable of percutaneous coronary intervention selected from each EuroStat NUTS region in Turkey according to population sampling weight, prioritized by the number of hospitals in each region. All consecutive patients with acute MI admitted to coronary care units within 48 hours of symptom onset were prospectively enrolled during a predefined 2-week period between November 1, 2018 and November 16, 2018. Results: A total of 1930 consecutive patients (mean age, 62.0±13.2 years; 26.1% female) with a diagnosis of acute MI were prospectively enrolled. More than half of the patients were diagnosed with non-ST elevation MI (61.9%), and 38.1% were diagnosed with ST elevation MI. Coronary angiography was performed in 93.7% and, percutaneous coronary intervention was performed in 73.2% of the study population. Fibrinolytic therapy was administered to 13 patients (0.018%). Aspirin was prescribed in 99.3% of the patients, and 94% were on dual antiplatelet therapy at the time of discharge. Beta blockers were prescribed in 85.0%, anti-lipid drugs in 96.3%, angiotensin converting enzyme inhibitors in 58.4%, and angiotensin receptor blockers in 7.9%. Comparison with European countries revealed that TURKMI patients experienced MI at younger ages compared with patients in France, Switzerland, and the United Kingdom. The most prevalent risk factors in the TURKMI population were hypercholesterolemia (60.2%), hypertension (49.5%), smoking (48.8%), and diabetes (37.9%). Conclusion: The nation-wide TURKMI registry revealed that hypercholesterolemia, hypertension, and smoking were the most prevalent risk factors. TURKMI patients were younger compared with patients in European Countries. The TURKMI registry also confirmed that current treatment guidelines are largely adopted into clinical cardiology practice in Turkey in terms of antiplatelet, anti-ischemic, and anti-lipid therapy. ©Copyright 2020 by Turkish Society of Cardiolog

Assessment of Palliative Care in Lung Cancer in Turkey

Objective: To investigate the symptoms of lung cancer in Turkey and to evaluate approaches to alleviate these symptoms. Subjects and Methods: This study included 1,245 lung cancer patients from 26 centers in Turkey. Demographic characteristics as well as information regarding the disease and treatments were obtained from medical records and patient interviews. Symptoms were evaluated using the Edmonton Symptom Assessment Scale (ESAS) and were graded on a scale between 0 and 10 points. Data were compared using the. 2, Student t, and Mann-Whitney U tests. Potential predictors of symptoms were analyzed using logistic regression analysis. Results: The most common symptom was tiredness (n = 1,002; 82.1%), followed by dyspnea (n = 845; 69.3%), appetite loss (n = 801; 65.7%), pain (n = 798; 65.4%), drowsiness (n = 742; 60.8%), anxiety (n = 704; 57.7%), depression (n = 623; 51.1%), and nausea (n = 557; 45.5%). Of the 1,245 patients, 590 (48.4%) had difficulty in initiating or maintaining sleep. The symptoms were more severe in stages III and IV. Logistic regression analysis indicated a clear association between demographic characteristics and symptom distress, as well as between symptom distress (except nausea) and well-being. Overall, 804 (65.4%) patients used analgesics, 630 (51.5%) received treatment for dyspnea, 242 (19.8%) used enteral/parenteral nutrition, 132 (10.8%) used appetite stimulants, and 129 (10.6%) used anxiolytics/antidepressants. Of the 799 patients who received analgesics, 173 (21.7%) reported that their symptoms were under control, and also those on other various treatment modalities (dyspnea: 78/627 [12.4%], appetite stimulant: 25/132 [18.9%], and anxiolytics/antidepressants: 25/129 [19.4%]) reported that their symptoms were controlled. Conclusion: In this study, the symptoms progressed and became more severe in the advanced stages of lung cancer, and palliative treatment was insufficient in most of the patients in Turkey. (C) 2016 S. Karger AG, Base

Measurement of charged particle spectra in minimum-bias events from proton-proton collisions at root s =13 TeV

Pseudorapidity, transverse momentum, and multiplicity distributions are measured in the pseudorapidity range vertical bar eta vertical bar 0.5 GeV in proton-proton collisions at a center-of-mass energy of root s = 13 TeV. Measurements are presented in three different event categories. The most inclusive of the categories corresponds to an inelastic pp data set, while the other two categories are exclusive subsets of the inelastic sample that are either enhanced or depleted in single diffractive dissociation events. The measurements are compared to predictions from Monte Carlo event generators used to describe high-energy hadronic interactions in collider and cosmic-ray physics.Peer reviewe