Browsing by Author "Gözmen, S"

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    Evaluation of voiding dysfunctions in children with chronic functional constipation
    Kasirga, E; Akil, I; Yilmaz, Ö; Polat, M; Gözmen, S; Egemen, A
    There are controversial results about the role of dysfunctional bowel emptying in disorders of the urinary tract like urinary tract infection (UTI), vesicoureteral reflux (VUR) and enuresis. Constipation may cause UTI, enuresis and VUR due to the uninhibited bladder contraction. The aim of this study was to investigate the frequency of nocturnal enuresis, UTI and instability symptoms in chronic functional constipation (CFC). This study included 38 children with CFC and 31 children as the control group. Detailed past and present history of UTIs or symptoms pointing to this diagnosis, enuresis, encopresis, urgency and urge incontinence was obtained from both groups as well as the family history of UTI. Urinalysis, urine culture and stool parasite analysis as well as abdominal ultrasonography were performed on both groups. Age range of the children with CFC was 6-192 months (mean +/- standard deviation (SD) 63.5 +/- 51 months); that of the control group was 4-180 months (mean +/- SD 82 +/- 46.2 months). Frequency of UTI and urgency was significantly higher in the CFC group. However, frequencies of urge incontinence, nocturnal enuresis, and genitourinary abnormalities were not different between the two groups. In conclusion, risk of UTI and urgency is increased in CFC, but that of other voiding dysfunctions like urge incontinence do not change significantly. Therefore, we suggest that UTI and urgency should be questioned in children with CFC and vice versa.
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    Vitamin A status of healthy children in Manisa, Turkey
    Tansug, N; Polat, M; Çesme, S; Taneli, F; Gözmen, S; Tokusoglu, Ö; Yilmaz, D; Dinç, G
    Background: Vitamin A deficiency is a major public health nutrition problem in the developing world. Even subclinical Vitamin A deficiency is associated with increased childhood mortality. Severe maternal vitamin A deficiency may cause increased mortality in the first months of life. There have been a limited number of studies regarding vitamin A status in Turkey. The aim of this study was to assess vitamin A status of healthy children in Manisa, Turkey. Methods: Vitamin A status of 100 healthy children aged 36-48 months is evaluated. The children were seen during routine examination. Serum retinol concentrations were measured by high-performance liquid chromatography. Duration of breast feeding, age solid foods introduced, use of supplementary vitamins, weight and height, and intake of specific groups of nutrients on a daily, weekly and monthly basis were collected from a questionnaire completed by the mothers. Height and weight z-scores were calculated according to national standards. Mothers of 20 of the 100 children were known to have normal serum and breast milk retinol concentrations. Children with normal serum retinol concentration were compared with the children with VAD. Student's t-test and Mann-Whitney test were used to compare independent variables. The Pearson correlation analysis test was used to test relation between numeric variables. Results: Mean retinol concentration was 0.98 +/- 0.32 mu mol/L in the whole study group. Serum retinol concentrations were normal (>0.70 mu mol/L) in 89% of the children. When children with normal serum retinol concentrations were compared with those with retinol concentrations lower than 0.70 mu mol/L, there was no difference in terms of age, gender, weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, rate of supplementary vitamin use, and rate of infections (P > 0.05). There was not any relation between vitamin A concentrations and weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, vitamin use, and frequency of intake of specific groups of nutrients (P > 0.05). Conclusions: This study showed that VAD is a moderate health problem in Manisa.
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    Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome
    Akil, I; Gözmen, S; Yilmaz, Ö; Taneli, C
    TAR syndrome is a congenital malformation syndrome characterized by bilateral absence of the radius and thrombocytopenia. The known urinary anomalies are duplex ureter, dilatation of renal pelvis, horseshoe kidney and functional problems like vesicoureteral reflux and pyelonephritis. In this report of a case with TAR syndrome, a kidney stone and bladder telangiectasia were found coincidentally during the investigation of hematuria. TAR syndrome is discussed in the light of the medical literature. To our knowledge, no case has been reported demonstrating nephrolithiasis and bladder telangiectasia in TAR patients.
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    Sirolimus is effective and safe in childhood relapsed-refractory autoimmune cytopenias: A multicentre study
    Acar, SO; Tahta, N; Al, IO; Erdem, M; Gözmen, S; Karapinar, TH; Kilinç, B; Celkan, T; Kirkiz, S; Koçak,Ü; Ören, H; Yildirim, AT; Arslantas, E; Ayhan, AC; Oymak, Y
    Autoimmune cytopenias are a heterogeneous group of disorders characterized by immune-mediated destruction of haematopoietic cell lines. Effective and well-tolerated treatment options for relapsed-refractory immune cytopenias are limited. In this study, the aim was to evaluate the efficacy and safety of sirolimus in this disease group within the paediatric age group. The study enrolled patients in the paediatric age group who used sirolimus with a diagnosis of immune cytopenia between December 2010 and December 2020, followed at six centres in Turkey. Of the 17 patients, five (29.4%) were treated for autoimmune haemolytic anaemia (AIHA), six (35.2%) for immune thrombocytopenic purpura (ITP) and six (35.2%) for Evans syndrome (ES). The mean response time was 2.7 months (range, 0-9 months). Complete response (CR) and partial response (PR) were obtained in 13 of 17 patients (76.4%) and nonresponse (NR) in four patients (23.5%). Among the 13 patients who achieved CR, three of them were NR in the follow-up and two of them had remission with low-dose steroid and sirolimus. Thus, overall response rate (ORR) was achieved in 12 of 17 patients (70.5%). In conclusion, sirolimus may be an effective and safe option in paediatric patients with relapsed-refractory immune cytopenia. In a retrospective multicentre study of 17 cases (11 boys and 6 girls) who were receiving sirolimus for immune cytopenia were analysed. We found that complete response (CR) and partial response (PR) were obtained in 13 of 17 patients (76.4%) and nonresponse (NR) in 4 patients (23.5%). Overall response rate (ORR) was achieved in 12 of 17 patients (70.5%).image
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    Successful management of delayed-onset adenosine deaminase deficiency with novel mutation
    Çelik, FÇ; Soyöz, Ö; Bölük, SÖ; Taskirdi, I; Haci, IA; Kaya, MS; Demir, A; Uzunoglu, B; Yildirim, AT; Onay, H; Gözmen, S; Gülez, N; Genel, F
    A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel ADA gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation.