Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
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Item HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction(2015) Bulum, Burcu; Ozcakar, Z. Birsin; Duman, Duygu; Cengiz, Filiz Basak; Kavaz, Asli; Burgu, Berk; Baskin, Esra; Cakar, Nilgun; Soygur, Tarkan; Ekim, Mesiha; Tekin, Mustafa; Yalcinkaya, Fatos; 0000-0003-4361-8508; 25924634; B-5785-2018Background: Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have been reported in UFS patients. Non-neurogenic neurogenic bladder (NNNB) has a bladder identical to UFS without typical facial features. The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) without abnormal facial expression. Methods: Patients with UFS, NNNB and severe LUTD were enrolled in the study. We examined a total of 35 patients from 33 families. There were seven UFS patients from five different families, 21 patients with NNNB and seven with LUTD. HPSE2 gene mutation analysis was performed using the polymerase chain reaction protocol followed by Sanger sequencing in these patients. Results: A twin pair with UFS was found to be homozygous for c.457C>T (p.Arg153*) mutation. No other pathogenetic variant was detected. Conclusion: HPSE2 mutations were found in one UFS family but not detected in patients with NNNB and severe LUTD. Considering the increasingly recognised cases of NNNB that were diagnosed in early childhood period, genetic factors appear to be responsible. Thus, further genetic studies are needed to discover novel associated gene variants in these bladder anomalies. (C) 2015 S. Karger AG, BaselItem COVID-19 Infections in Pediatric Renal Transplant Recipients(2022) Yilmaz, Aysun Caltik; Baskin, Esra; Gulleroglu, Kaan; Karakaya, Deniz; Akdur, Aydincan; Moray, Gokhan; Haberal, Mehmet; https://orcid.org/0000-0003-0774-4419; https://orcid.org/0000-0003-1434-3824; https://orcid.org/0000-0002-3462-7632; 35384829; AAD-1877-2021; AAJ-8833-2021; AAJ-8097-2021Objectives: The new coronavirus SARS-CoV-2 (COVID-19) first appeared in Turkey in March 2020, spread rapidly, and caused many deaths. Although COVID-19 is mostly a respiratory disease, it can cause kidney and multiorgan failure in some cases. We believe that by sharing information about the course and effects of COVID-19 infection in kidney transplant recipients receiving long-term immunosuppressive therapy our understanding will improve. Materials and Methods: Between March 2020 and October 2021, COVID-19 was researched in kidney transplant recipients under the age of 20 years who were followed at the Baskent University Transplantation Center. We documented the clinical characteristics and prognosis of pediatric kidney transplant recipients with COVID-19 disease. Results: Our study group included 23 patients with COVID-19 infection from 215 pediatric kidney transplant recipients. The mean age of the patients was 14.6 +/- 4.7 years; there were 9 female patients. The mean follow-up time posttransplant was 62.3 +/- 43.2 months. In 13 patients (56.5%), fever was the most frequent symptom. Most patients (n = 18, 78%) had minor symptoms and recovered completely after receiving supportive treatment. Four patients (17%) required hospitalization. One was diagnosed with COVID-19 infection 1 week after being treated with rituximab for acute antibody-mediated rejection. That patient died because of significant lung disease and multiorgan failure. Conclusions: Despite the fact that most of our pediatric transplant recipients had mild symptoms of COVID-19, we believe that particular caution should be observed in patients who have recently received intensive immunosuppressive medications. As a result of potential new vaccines, national immunization programs, and the emergence of novel virus strains, the clinical picture may change in the future. We believe that, as information sharing increases, we will learn more about COVID-19 in renal transplant recipients.Item Timing for Removal of Peritoneal Dialysis Catheters in Pediatric Renal Transplant Patients(2016) Melek, Engin; Baskin, Esra; Gulleroglu, Kaan Savas; Kirnap, Mahir; Moray, Gokhan; Haberal, Mehmet; 0000-0003-4361-8508; 0000-0003-1434-3824; 0000-0003-2498-7287; 0000-0002-3462-7632; 27805518; B-5785-2018; AAJ-8833-2021; AAH-9198-2019; AAE-1041-2021; AAJ-8097-2021Objectives: Peritoneal dialysis, the preferred long-term renal replacement modality in the pediatric population, can also be used during the post transplant period. Although it is well known that peritonitis or other complications may occur related to the peritoneal dialysis catheter, less is known about complications related to the peritoneal dialysis during the post transplant period. Our objective was to evaluate the complications related to use of a peritoneal dialysis catheter during the posttransplant period and to determine the optimum time for removal of the peritoneal dialysis catheter. Material and Methods: We retrospectively analyzed 33 chronic peritoneal dialysis patients. Pretransplant and posttransplant demographics and clinical and laboratory data for each patient were recorded, including incidence of peritonitis and incidence of peritoneal dialysis catheter requirement after transplant. Results: Mean age of patients at transplant was 12.8 +/- 4.0 years (range, 3.5-18.0 y). Mean catheter removal time was 81.1 +/- 36.2 days (range, 22.0-152.0 d). The peritoneal dialysis catheter was used in 6 of 33 patients (18.2%); none of these patients developed peritonitis. In contrast, 2 of the 27 patients who did not use the peritoneal dialysis catheter developed peritonitis. Our data suggest that the need for catheter use occurs predominantly during the first month, and infectious complications usually happen later. Conclusions: Previously, the trend was to not remove the peritoneal dialysis catheter at the time of transplant. However, in light of recent literature and our present study, we recommend that the time of catheter removal should be modified and decided for each patient on an individual basis.Item Agreement Between Integrated Management of Childhood Illness and Final Diagnosis in Acute Respiratory Tract Infections(2018) Yalcin, Siddika Songul; Ozdemir, Beril; Ozdemir, Sadriye; Baskin, Esra; 0000-0001-9061-4281; 0000-0003-4361-8508; 29457209; I-9331-2013; B-5785-2018ObjectiveTo evaluate the agreement between integrated management of childhood illness (IMCI) and final diagnosis in patients presenting with cough at the second and third level health institutions.MethodsThis cross-sectional study included 373 children aged 2-60 mo who presented with cough at the pediatric emergency and outpatient clinics in the Department of Pediatrics. After clinical examination of children, body temperature, respiratory rate, saturation, presence or absence of the chest indrawing, rales, wheezing and laryngeal stridor were recorded. Cases were categorized according to IMCI algorithm regarding the severity using the color code, such as red (urgent treatment), yellow (treatment in the hospital), or green (treatment at home). Final diagnosis after physical examination, laboratory analysis and chest X-ray was compared with the IMCI algorithm.ResultsStudy agreement between IMCI classification and final diagnosis was 74.3% with kappa value 0.55 (moderate agreement). Similar agreement values were detected in both the second and third level health institutions. Health condition and gender did not affect agreement value. Agreement were found to be high in patients <24 mo of age (?=0.67), presence of fever and cough (?=0.54), tachypnea (?=0.93), chest indrawing (?=1.00) and oxygen saturation of <94%(?=0.90).ConclusionsAdding saturation level to the IMCI algorithmic diagnosis may increase agreement between IMCI classification and final diagnosis.Item Extra-Renal Manifestations of Atypical Hemolytic Uremic Syndrome in Children(2018) Fidan, Kibriya; Goknar, Nilufer; Gulhan, Bora; Melek, Engin; Yildirim, Zeynep Y.; Baskin, Esra; Hayran, Mutlu; Gulleroglu, Kaan; Ozcakar, Zeynep B.; Ozaltin, Fatih; Soylemezoglu, Oguz; https://orcid.org/0000-0003-4361-8508; https://orcid.org/0000-0003-1434-3824; 29610995; B-5785-2018; AAJ-8833-2021Atypical hemolytic uremic syndrome (aHUS) is a chronic disease characterized by thrombotic microangiopathy and a high risk of end-stage kidney disease. Dysregulation and/or excessive activation of the complement system results in thrombotic microangiopathy. Interest in extrarenal manifestations of aHUS is increasing. This study aimed to determine the clinical characteristics of patients with extrarenal manifestations of aHUS in childhood. This study included 70 children with extrarenal manifestations of HUS from the national Turkish aHUS Registry. The demographics, clinical characteristics, genetic test results, all treatments, and renal/hematologic status of aHUS patients with extrarenal involvement were recorded. The most common extrarenal manifestation was neurological system involvement (n = 46 [27.2%]), followed by gastrointestinal (n = 20 [11.8%]), cardiovascular (n = 12 [7%]), and respiratory (n = 12 [7%]) involvement. The patients with neurological involvement had a higher mortality rate and a lower estimated glomerular filtration rate (eGFR) than the other patients at last follow-up. Eculizumab (with or without plasma exchange/plasma infusion) treatment increased the renal and hematologic recovery rates. The most common and serious extrarenal manifestation of aHUS is neurological involvement and treatment outcome findings presented herein are important to all relevant clinicians.