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.
Acute viral myocarditis is one of the causes of heart failure. Cardiac asthma is commonly observed in elderly patients with left heart failure. If the pulmonary manifestations are prominent it can mask the involvement of heart. We report a young case of viral myocarditis mimicking acute asthma attack. Case Presentation: A 27-year-old young man with a history of asthma presented to the pulmonary department of our hospital with dyspnea, left sided chest pain, cough, wheezing. Asthma was diagnosed and treated, however his respiratory complaints have persisted. Laboratory evaluations revealed that elevated cardiac enzymes, Echocardiogram showed global hypokinesia in the left ventricle and a decrease of ejection fraction. We concluded that viral myocarditis can present itself like an acute asthma attack.
Objective: Some anatomical changes might trigger headaches in people who have migraine, and that surgical applications eliminating the structural problems in treatment-resistant migraine patients are effective in pain treatment. Methods: A total of 36 patients, who did not respond to different treatment options without aura migraine and chronic migraine that were showing synonasal and anatomical changes in synonasal nasal endoscopy and/or paranasal sinus CT screening, responding insufficiently and/or approximately one year period also did not respond to different treatment options, were included in this study between June 2016 and September 2019. Results: The relation between migraine episodes and synonasal symptoms was found to be statistically significant. A significant difference was detected between nasal congestion and obstruction, postnasal discharge, and runny nose in patients with attacks compared to patients without attacks. The difference between mean pain severity values was statistically significant when compared to preoperative values (3.0(3.0$4.0)) and postoperative values (1.0(0$1.0)). When the pain severity after the operation (1.0(1.0$2.75)) was compared with the severity of pain before the operation (5.0 (3.0$5.0)), it was determined that there was a significant decrease in pain severity in patients diagnosed with chronic migraine, the difference between the mean pain severity values was statistically significant, and the prevalence of pain decreased at a significant level after the operation. Conclusion:The results of the present study indicate that the elimination of synonasal structural changes, which were hypothesized to trigger pain in migraine patients, could have a pain-reducing effect on the frequency and severity of the pain.
Mucociliary clearance (MC) is one of the main defense mechanisms of the nasal respiratory mucosa. The purpose of this study was to determine changes occurring nasal MC in patients with sinusitis, and how medical treatment affects changes in MC, and to identify an appropriate topical solution with positive effects on MC for use in the treatment of sinusitis by examining the effects of various topical solutions on MC. 60 patients diagnosed with rhinosinusitis at the ear, nose and throat clinic were included in this prospective study. Patients were randomly assigned into groups. Group 1 (n:10) received no topical treatment. Group 2 (n:10) was administered with fluticasone propionate, Group 3 (n:10) received mometasone furoate and Group 4 (n:10) received oxymetazoline. Group 5 (n:10) received isotonic sea water for nasal irrigation, while Group 6 (n:10) received isotonic Ringer's solution for nasal irrigation. Group 7 represented the control group (non-sinusitis). The saccharin test was used to determine nasal mucociliary clearance times. The saccharin test was performed before and on the 2nd week of treatment in all groups. Basal MCT and 2nd week MCT values were compared in all groups. When measurements performed 20 min and 14 days after administration of topical agents were compared with basal values, mean MCT values at 20 min. and 14 days were shorter in all groups compared to mean basal MCT values. However, the difference between 20-min, 14th day and basal MCT values was only statistically significant in the oxymetazoline and isotonic Ringer's solution groups (p<0.05). We think that oxymetazoline and isotonic Ringer's solution can be used as supportive therapy in the treatment of sinusitis since these produce a significant shortening of MCT.
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