Objective: Vesicoureteral reflux (VUR) is considered the most important predisposing factor for urinary tract infection (UTI). Renal damage due to
VUR, subsequently renal scarring and the possibility of reflux nephropathy warrant early detection of VUR. Our aim was to evaluate the value of
positioned instillation of contrast (PIC) cystography in the detection of VUR in children with recurrent UTI and a normal voiding cystourethrography
(VCUG).
Materials and Methods: PIC cystography was performed in each child with the indication of recurrent UTI with a normal VCUG between June 2015
and November 2017.
Results: Thirty-four children (32 girls, 2 boys) aged 7 to 17 years (median, 10 years), were examined. Twenty (58.8%) patients had normal ultrasound
and 12 patients (35.3%) had bilateral scars detected using 99mTc-dimercaptosuccinic acid (DMSA). Thirty-one (91.2%) patients were shown to
have VUR on PIC cystography. Nine (29%) patients had no renal scar with positive PIC and 3 (12%) patients had scars with negative PIC. Scars were
detected in 13 (72.2%) patients with grade I-II VUR, and 4 (30.8%) with grade III-IV VUR had no scars on DMSA. There was no significant difference
between the results of PIC and DMSA renal scan. Twenty-six patients (76.5%) with PIC-VUR underwent simultaneous endoscopic injections. During
the postoperative follow-up with an average of 12 months, 27 patients showed no evidence of febrile UTIs.
Conclusion: Based on our results, PIC cystogram seems to be a good alternative to invasive voiding cystourethrogram in screening children for VUR
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Objective: The purpose of this study was to identify diagnostic microRNAs (miRNAs) associated with congenital kidney
anomalies.
Methods: Twenty-five healthy pregnant women who were found to have fetal kidney anomaly in the second trimester of
their pregnancy at Department of Perinatology, were included in the study. Serum samples were taken from the pregnant
women at the moment of diagnosis in the antenatal 20th gestational week, whereas serum samples were taken from the
cord blood of babies during birth. There were 11 multicystic dysplastic kidney patients, 6 autosomal recessive polycystic
kidney patients, and 8 unilateral hypoplastic kidney patients. Expression of specific miRNAs was monitored using specific
primer assays in Real-Time PCR. The expression of the following miRNAs was quantified: miR-17, miR-192, miR-194,
miR-204, miR-215, and miR-216.
Results: mir-17 expression was significantly lower in children with congenital kidney anomalies than in the control
group. ROC curve analysis showed that the area under the curve was 0.700 for miR-17 in the prediction of congenital
kidney anomalies.
Conclusions: In children with congenital kidney anomalies, miR-17 expression was significantly different than in the
control group. Thus, this miRNA may be used in the antenatal early detection of these congenital kidney anomalies.
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Objectives: This study aims to discuss the clinical, laboratory and genetic findings, and treatment options for six patients who were diagnosed with
Blau syndrome (BS)/early-onset sarcoidosis (EOS).
Patients and methods: The study included four patients (2 males,2 females; mean age 7 years; range 4 to 10 years) with EOS and two siblings
(1 male, 1 female; mean age 10 years; range, 9 to 11 years) with BS. Age, age of initial symptoms, age of diagnosis; articular involvement, presence of
uveitis, dermatitis, or fever, other organ involvement, laboratory findings, results of metabolic tests for mucopolysaccharidosis and mucolipidosis,
results of genetic, pathologic, and immunologic tests, radiologic findings to evaluate skeletal dysplasia, and treatment options were collected.
Results: The median age at diagnosis of all patients was 6 years (range, 1 to 10 years). Five patients had camptodactyly and bilateral boggy
synovitis in the wrists and ankles, one had granulomatous inflammatory changes in the liver and kidney biopsy, and one had attacks of fever and
granulomatous dermatitis. None had uveitis. The detected mutations in nucleotide-binding oligomerization domain containing 2 (NOD2) were
P268S (rs2066842), M513T (rs104895473), R702W (rs2066844), V955I (rs5743291), H343Y (rs199858111), and M491L (16:50745293). The treatments of
patients included corticosteroids, non-steroid anti-inflammatory drugs, methotrexate, infliximab, adalimumab, anakinra, and canacinumab.
Conclusion: Camptodactyly and boggy synovitis are important signs of BS/EOS. Methotrexate and tumor necrosis factor blockers are more effective
in patients with predominantly articular symptoms. In patients 5 and 6 and their mother, we determined a novel M491L mutation in the NOD2 gene.
Currently, this work is in progress towards identifying the pathogenesis and treatment options for this disease.
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Objective: Treatments for enthesitis-related arthritis (ERA) consist of a mono- or combination therapy with non-steroidal anti-inflammatory drugs, disease-modifying anti-rheumatic drugs (DMARDs),
and biological agents, and they are primarily based on adult studies and studies on other forms of
juvenile idiopathic arthritis, depending on whether there is axial or peripheral involvement. We use
DMARDs frequently in our daily practice, even in patients with axial involvement. The main reason
for this is that the health insurance system in Turkey does not allow the use of Tumor Negrosis
Factor (TNF) blockers as the first line of treatment. The aim of this study is to evaluate the factors
affecting the duration of DMARDs application in patients with ERA.
Methods: Fifty-two patients with ERA were accepted in this retrospective cohort study. These patients did not have an inflammatory bowel disease, reactive arthritis or undifferentiated arthritis,
psoriasis, and familial Mediterranean fever. Demographic characteristics, medical history, the initial
and follow-up physical examination, initial Juvenile Spondyloarthritis Disease Activity Index (JSpADA), initial laboratory tests, radiographic tests, Juvenile Arthritis Damage Index-articulary (JADI-A)
and extra-articulary (JADI-E) on the last admission, and data on medical treatments were recorded
from the registered data. The univariate Cox proportional hazards regression analyses was used to
determine factors affecting the non-response time of ERA patients to DMARDs before the biological treatment was started.
Results: Twenty-seven patients (52%) achieved remission with DMARDs, while 25 (48%) patients
did not. The age at diagnosis (HR=1.12; p=0.247); gender (HR=2.53; p=0.210); family history of ankylosing spondylitis (HR=1.17; p=0.730); inflammatory back pain (HR=0.57; p=0.175); the shoulder (HR=0.75 p=0.706), hip (HR=0.45; p=0.129), and small-joint involvement (HR=1.53; p=0.439);
sacroiliitis with physical examination (HR=0.90; p=0.814) and magnetic resonance imaging (MRI)
(HR=2.84; p=0.110); enthesitis (HR=0.83; p=0.670); presence of uveitis (HR=2.04; p=0.342); presence
of HLA-B27 (HR=1.39; p=0.524); initial high acute phase reactants levels(HR=1.89; p=0.183); initial
JSpADA score (HR=0.98; p=0.944); and last JADI-A (HR=1.41; p=0.060) score did not affect the duration of DMARDs treatment before switching to biological treatments.
Conclusion: In our study, the absence of factors affecting the duration of DMARDs application in
patients with ERA showed that DMARDs may still be applied as the first line of treatment.
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