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Objective: Primary hyperoxaluria type 1 is an autosomal recessive rare disorder, caused by mutations in the alanine: glyoxylate aminotransferase (AGXT) gene. We aimed to detect the AGXT gene mutations causing primary hyperoxaluria type I in combined liver-kidney and isolated liver transplanted children with phenotypic characteristics of primary hyperoxaluria type 1. Methods: This study was carried out by including 6 Turkish children and their families followed by Dokuz Eylül. University Faculty of Medicine, Department of Pediatric Nephrology and diagnosed as primary hyperoxaluria with their phenotypic features. Clinical features, transplantation characteristics, and AGT catalytic activities of the cases were noted. The entire coding region including exon-intron boundaries of the AGXT gene was sequenced in patients and their family. Results: We detected 6 mutations primary hyperoxaluria type 1 causing and 2 minor allele polymorphism in 6 patients (5 families) The entire patients had at least one primary hyperoxaluria type 1-related mutation. Patient 1 had homozygous minor allele polymorphisms Pro11Leu in exon 1 and Ile340Met in exon 10, and mutation Met195Arg in exon 5. Patient 2 had homozygous mutation c. 33_34insC in exon 1. Patient 3 was compound heterozygous for mutations Gly170Arg in exon 4 and c.846+1G>A in intron 8 and heterozygous minor allele polymorphisms Ile340Met in exon 10. Patient 4 had homozygous mutation c.823-824dupAG in exon 8. Patient 5 and 6 had homozygous mutation c.976delG in exon 10. Conclusions: Our studies emphasize the mutation analysis of the entire coding region instead of targeted (exons 1, 4, and 7) mutation analysis of AGXT. [ABSTRACT FROM AUTHOR]

Author(s): Eren Soyaltin [sup.1] , Belde Kasap Demir [sup.1] [sup.2] , Gökçen Erfidan [sup.1] , Seçil Arslansoyu Çamlar [sup.1] , Demet Alaygut [sup.1] , Fatma Mutlubas [sup.1] Author Affiliations: (1) [...]

Acute focal bacterial nephritis is a localized, non liquefied bacterial inflammatory kidney mass affecting one or more lobes of the kidney. It is a midpoint between pyelonephritis and the formation of a kidney abscess. Mild encephalopathy with a reversible splenial lesion is identified by a temporary diffusion restriction in the selenium of the corpus callosum in magnetic resonance imaging. Neurological symptoms sometimes seen in mild encephalopathy with a reversible splenial lesion include changes in consciousness, behavioral changes, and seizures. Many infectious agents, particularly viruses, may be associated with the diagnosis. In recent years, the association between mild encephalopathy and a reversible splenial lesion has been described in some cases with acute focal bacterial nephritis. We present a case of a 9-year-old pediatric patient admitted to the pediatric emergency department with fever and seizures. Even though his urine sample revealed normal findings, he had higher levels of acute-phase reactants. With the aid of the computerized tomography and the magnetic resonance imaging scan, he was diagnosed with mild encephalopathy with reversible corpus callosum splenium lesion associated with acute focal bacterial nephritis. After appropriate treatment, he was discharged home successfully. As a conclusion, mild encephalopathy with reversible corpus callosum splenium lesion should be kept in mind for patients with neurological signs or symptoms accompanied by acute focal bacterial nephritis. [ABSTRACT FROM AUTHOR]

Background: Patients with nephrotic syndrome (NS) are at a high risk of cardiovascular disease, obesity, and dyslipidemia. The aim of this study was to evaluate the formation of epicardial adipose tissue (EAT) and investigate electrocardiographic (ECG) parameters in patients. Methods: Thirty-two patients aged 0–18 years and 15 control patients were compared. In the patient group, physical examination and laboratory parameters were recorded. Atrial depolarization and ventricular repolarization parameters in ECG were compared between the groups. EAT was evaluated with M-mode measurements on echocardiography. Results: There was no difference between the groups in terms of sex, age, body mass index, systolic and diastolic BP. EAT was found to be significantly higher in the patient group. In ECG evaluations it was determined that atrial depolarization and ventricular repolarization parameters increased in the patient group. Conclusions: Cardiovascular morbidity and mortality are high in kidney diseases. Measurement and follow-up of EAT and ECG findings as a noninvasive parameter can provide information in NS. [ABSTRACT FROM AUTHOR]

Hypertension (HT) is seen with increasing frequency in childhood. Various guidelines have been published to better evaluate these patients. The most frequently used of these are; The 4th Report (The 4th Report-2004) updated and published by the National Heart Lung and Blood Institute (NHLBI) National High Blood Pressure Education Program (NHBPEP) Working Group in 2004, a guideline prepared by the European Society of Hypertension in 2016 (ESH-2016), the last one is the guideline prepared by the American Academy of Pediatrics in 2017 (AAP-2017). Although these guidelines have some similarities, there are serious differences between them. The 4th Report-2004 and ESH-2016 guidelines use blood pressure (BP) percentile tables based on age and height previously determined in American children. Then, new tables were created by extracting the measurements of obese children and these tables were used in AAP-2017. From the age of 16 in ESH-2016 and 13 in AAP-2017, it is recommended that BP evaluations should be made according to adult guidelines. Evaluation of the hypertensive patient, Ambulatory Blood Pressure Monitoring (ABPM) criteria, the timing of laboratory tests and treatment differ according to guidelines. As a result; since universal BP tables covering all children around the world have not yet been created; age, ethnic and geographical conditions should be taken into account when evaluating which guidelines the office BP and ABPM should follow. By following the currently published guidelines, it will be possible to reduce future cardiovascular events. [ABSTRACT FROM AUTHOR]

Aim: Familial Mediterranean Fever (FMF) is one of the most frequent genetic diseases with a frequency of 1/1,000 in our country. We aimed to assess awareness of FMF among caregivers of patients with and without FMF. Materials and Methods: Caregivers of FMF patients (group 1) and other caregivers who were in hospital for other reasons (group 2) were given a questionnaire regarding FMF and the results were compared between the 2 groups. Results: The mean ages were similar between group 1 (n=142) and group 2 (n=207). Female gender and lower educational status were more frequent in group 1. Group 1 was more aware that recurrent fever, joint pain, abdominal pain, and its occurrence in attacks are seen in FMF; and also that the disease is inherited rather than contagious; that a specific treatment exists; that the risk of kidney and heart failure increases when not treated; that attacks are triggered by sleeplessness, tiredness or emotional stress; that colchicine does not provide complete recovery; and that diarrhea is the most common side effect of colchicine (p<0.05). However, awareness about chest pain as a feature, infertility as a complication, non-adherence as a trigger for the disease and the statement that "patients feel healthy between attacks" were similar (p>0.05). Interestingly, group 2 was more aware that different treatment options exist (p=0.04). The total score was higher in group 1 and in participants who only graduated from secondary school or less (p<0.01). Conclusion: Being a caregiver of a patient was associated with a higher level of awareness of FMF regardless of education level, however, they still need to be informed about current developments. [ABSTRACT FROM AUTHOR]

Aim: Kidney transplantation is the most preferred long-term treatment of children with end stage renal disease since 1954. Graft dysfunction has been divided into three categories based on timing of presentation. In this article, we aim to present the etiologic factors of acute graft dysfunction in the first year of renal transplantation in children. Materials and Methods: The patients, diagnosed with acute allograft dysfunction in first year of kidney transplantation, in University of Health Sciences Turkey, Tepecik Training and Research Hospital between March 2005 and October 2017 were analyzed prospectively in this study. Results: Over the 15 year period, 56 pediatric renal allograft patients were followed in University of Health Sciences Turkey, Tepecik Training and Research Hospital. During this period, 25 patients had diagnosed with early allograft dysfunction. Five patients were admitted two times in a year with allograft dysfunction. The mean age of patients was 12.6 (4.0±21.0) years, with a male and female ratio of 17:8. Delayed graft function was occurred in four patients (16%). Among 25 renal allograft recipients showed early graft dysfunction on average of 4.2 months (1-10 months) after transplantation. The etiology of early graft dysfunction showed 10% immunologic diseases and 90% non-immunologic factors. Five patients (16.7%) diagnosed with urinary tract infection, one patient (3.3%) diagnosed with cytomegalovirus nephropathy, five patients (16.7%) diagnosed with BK nephropathy, eight patients (26.7%) diagnosed with acute cyclosporine toxicity, seven patients (23.3%) were diagnosed with dehydration and one patient (3.3%) diagnosed with urologic anomalies. Twelve patients had performed renal allograft biopsy. The histological findings were consistent with T-cell mediated rejection in two patients; B-cell mediated rejection in one patient and viral nephropathy in five patients. Non-specific histological findings were determined in five patients. Conclusion: Early recognition of the etiology of graft dysfunction that develops at 1 year and appropriate treatment will contribute to the preservation of long-term graft dysfunction. [ABSTRACT FROM AUTHOR]

Aim: Enuresis (EN) is a common problem in childhood. Family physicians have an important role in revealing children with EN. The aim of this study was to assess the knowledge and attitude of family medicine (FM) residents regarding the diagnosis and treatment of enuresis in children. Materials and Methods: Family medicine residents of the University of Health Sciences, İzmir Tepecik Training and Research Hospital were invited to complete a questionnaire concerning enuresis in children. Those who had completed their paediatrics rotation training were defined as group 1, and those who had not completed their paediatrics rotation as group 2. The responses were compared between the groups. Results: Sixty (88%) of the FM residents agreed to complete the survey. The mean age of the participants was 28.7 (25-35) years, 38 (63%) had completed their paediatrics rotation (group 1). The question about the age of night-time bedwetting was more often answered correctly in group 1 (19/38) (p=0.025). In the question on the symptoms of non-monosymptomatic enuresis; the constipation option was marked as a symptom by only 15 of the participants (25%), with 13 (87%) being in group 1 (p=0.03). The correct response rates to the questions about other symptoms of non-monosymptomatic enuresis, the causes of secondary enuresis, the need for treatment, treatment options and the follow-up of patients with enuresis were similar between groups 1 and 2. Conclusion: As a result of this study, more correct answers, which revealed adequate knowledge and experience regarding enuresis, were obtained from those who had concluded their paediatrics rotation. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi is the property of Logos Medical Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Tepecik Education & Research Hospital / İzmir Tepecik Eğitim ve Araştırma Hastanesi Dergisi is the property of Logos Medical Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Many new features have recently been incorporated to ÇEDD Çözüm/Child Metrics, an online and freely accessible scientific toolset. Various auxological assessments can now be made with data of children with genetic diseases (Prader Willi syndrome, Noonan syndrome, Turner syndrome, Down syndrome, and Achondroplasia) and preterm and term newborns. More detailed reports for height, weight, and body mass index data of a given child are now available. Last but not least, office and 24-hour ambulatory blood pressure values can be analyzed according to normative data. [ABSTRACT FROM AUTHOR]

Hafnia alvei is a rare bacterium that is generally reported to be an opportunistic infectious agent in adults. There are a limited number of identified pediatric cases in the literature. This article reports H. alvei as the causative agent of urinary tract infection in a healthy 8-year-old girl with no underlying disease. The patient recovered with a 10-day oral trimethoprim/sulfamethoxazole treatment. The aim of this study was to review the characteristics of this rare microorganism, as a causative agent of urinary tract infection, for clinicians. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Dr. Behcet Uz Children's Hospital is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkish Nephrology, Dialysis & Transplantation Journal is the property of Turkish Society of Nephrology and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5-10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child with autosomal dominant polycystic kidney disease presenting with nephrolithiasis is discussed. [ABSTRACT FROM AUTHOR]

Background: Antenatal hydronephrosis refers to the dilation of the renal pelvis and/or calyces in the developing fetus. The challenge lies in distinguishing between cases that warrant long-term follow-up or surgical intervention and those with transient hydronephrosis that require minimal invasive investigations., Materials and Methods: Our study aimed to assess and contrast the efficacy of the 2015 Congenital Anomalies of Kidney and Urinary Tract Guideline from the Turkish Society of Pediatric Nephrology with the Tepecik Antenatal Hydronephrosis Guideline, which was previously employed in our hospital. We conducted a comparative analysis of demographic data, outcome conditions, additional imaging requirements and quantities, radiation exposures, and rates of surgical interventions between two groups., Results: Group 2 had a significantly higher detection rate of Vesicoureteral Reflux via voiding cystourethrogram at 38.5% compared to Group 1's 13.4% (p<0.01). The incidence of abnormal findings with dimercaptosuccinic acid was similar between Group 1 (28.5%) and Group 2 (26.4%) (p>0.01), but Group 2 had a higher rate of obstruction diagnosis at 68.8% versus Group 1's 29.4% (p<0.01). Group 1 had greater median radiation exposure (500 mrem vs. 200 mrem, p<0.01), and a higher proportion of patients underwent surgery (34.2% vs. 21.9%, p<0.01)., Conclusion: This study showed that the new guideline required fewer tests, was less invasive, and exposed patients to less radiation than the old guideline., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Aim: Acute bronchiolitis is a lower respiratory tract infection caused by viral agents in children aged under two years. Treatment includes hydration, oxygen, nebulized salbutamol, and intravenous steroids. This study aimed to determine the clinically related factors, the effect of viral agents on the clinical picture, and the efficacy of treatment methods in patients admitted with acute bronchiolitis., Material and Methods: Patients aged under two years of age who were hospitalized with a diagnosis of moderate/severe acute bronchiolitis between March 2015 and March 2019 were included in the study. Demographic data, hospitalization time, body temperature, presence of congenital heart disease, history of atopy, acute-phase reactants, mean platelet volume values, and respiratory virus panel results were recorded. The treatment modalities, length of hospitalization, intensive care hospitalization, and high-flow nasal cannula oxygen therapy (HFNC) were recorded., Results: Four hundred twenty-two patients were included in the study. The duration of hospitalization was found to be significantly longer in patients aged under one year and in patients with acyanotic congenital heart disease. A single viral agent was detected in 69 (51.9%) patients. Rhinovirus was detected in 70 patients and RSV was detected in 37. The duration of hospitalization was found to be significantly shorter in patients who received only oxygen and/or intravenous fluid treatment compared with those who received nebulized salbutamol and/or intravenous steroids. In addition, and there was no significant difference between the groups in terms of HFNC and hospitalization in the intensive care unit., Conclusion: Rhinovirus was the most common cause of acute bronchiolitis in our study. It was observed that congenital heart disease prolonged the length of hospitalization. In the treatment approaches, it was observed that hydration and oxygen therapy were sufficient treatment methods for the patients, in accordance with the recommendations of the American Academy of Pediatrics, and giving nebulized therapy prolonged the hospitalization period due to the treatment discontinuation steps., Competing Interests: Conflict of Interest: The authors have no conflicts of interest to declare., (Copyright: © 2020 Turkish Archives of Pediatrics.)