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Öğe A Childhood Inflammatory Myopathy with Cytochrome Oxidase Deficiency: Which Came First, the Chicken or the Egg?(Galenos Publ House, 2023) Diniz, Gulden; Yavascan, Onder; Sarkis, Umit Basak; Yildirim, Zubeyde; Alparslan, Caner; Ozturk, Can; Berdeli, AfigInflammatory myopathies are autoimmune disorders rarely seen in childhood. Normally high-dose corticosteroid is the current treatment for inflammatory myopathies. For a specific subgroup of patients with inflammatory myopathy with cytochrome oxidase (COX)-negative myofibers that do not typically respond to corticosteroid treatment, and methotrexate (MTX) is used for therapy. Herein we present a 10-year-old girl who initially received clinical diagnosis of juvenile inflammatory myopathy which did not respond to corticosteroid treatment. Examination of her muscle biopsy specimen showed the presence of COX-negative muscle fibers which are very rarely seen in childhood inflammatory myopathies, and she was diagnosed as inflammatory myopathy characterized with COX-negative myofibers. The patient, who recovered with MTX therapy underwent genetic examination 3 years after the treatment was terminated. The sequence analyses of mitochondrial DNA (mtDNA) identified 19 variants in the rRNA, ND2, ND4, ND5, COX1, COX3, and CytB genes of the mtDNA of the patient and her mother. These mutations generally induce the production of synonym amino acids. However, four missense mutations on the ND4, ATP6, and CytB genes have caused structural changes in amino acids. None of these mutations have been previously reported as pathogenic variants. We have thought that these variations in such essential genes might destabilize mtDNA and could probably affect the ATP synthesis in our patient. Our final diagnosis was established based on abnormal inflammatory response induced by a hereditary mtDNA defect in a child with mitochondrial myopathy, rather than an inflammatory myopathy with COX deficiency.Öğe Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience(Tubitak Scientific & Technical Research Council Turkey, 2021) Demir, Belde Kasap; Mutlubas, Fatma; Soyaltin, Eren; Alparslan, Caner; Arya, Merve; Alaygut, Demet; Camlar, Secil ArslansoyuBackground/aim: In children with autosomal dominant polycystic kidney disease (ADPKD), clinical manifestations range from severe neonatal presentation to renal cysts found by chance. We aimed to evaluate demographic, clinical, laboratory findings, and genetic analysis of children with ADPKD. Materials and methods: We evaluated children diagnosed with ADPKD between January 2006 and January 2019. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively. Patients < 10 years and >= 10 years at the time of diagnosis were divided into 2 groups and parameters were compared between the groups. Results: There were 41 children (M/F: 18/23) diagnosed with ADPKD. The mean age at diagnosis was 7.2 +/- 5.1 (0.6-16.9) years and the follow-up duration was 59.34 perpendicular to 40.56 (8-198) months. Five patients (12%) were diagnosed as very early onset ADPKD. All patients had a positive family history. Genetic analysis was performed in 29 patients (PKD1 mutations in 21, PKD2 mutations in 1, no mutation in 3). Cysts were bilateral in 35 (85%) of the patients. Only one patient had hepatic cysts. No valvular defect was defined in 12 patients detected. Only 1 patient had hypertension. None of them had chronic kidney disease. No difference could be demonstrated in sex, laterality of the cysts, maximum cyst diameter, cyst or kidney enlargement, follow-up duration, or GFR at last visit between Groups 1 and 2. Conclusion: The majority of children with ADPKD had preserved renal functions and slight cyst enlargement during their follow-up. However, they may have different renal problems deserving closed follow-up.Öğe The importance of ultrasonographic measurement of peritoneal wall thickness in pediatric chronic peritoneal dialysis patients(Taylor & Francis Ltd, 2015) Yavascan, Onder; Aksu, Nejat; Alparslan, Caner; Saritas, Serdar; Elmas, Cengiz Han; Eraslan, Ali Nihat; Duman, Soner; Mir, SevgiLoss of peritoneal function due to peritoneal fibrosing syndrome (PFS) is a major factor leading to treatment failure in chronic peritoneal dialysis (PD) patients. Although the precise biologic mechanisms responsible for these changes have not been defined, the general assumption is that alterations in peritoneal function are related to structural changes in the peritoneal membrane. Studies of the peritoneal membrane by non-invasive ultrasonography (US) in chronic PD patients are limited. The aim of the present study is to assess the relationship between functional parameters of peritoneum and peritoneal thickness measured by US in children treated by chronic PD. We recruited two groups of patients: 23 subjects (13 females, 10 males) on chronic PD (patient group) and 26 (7 females, 19 males) on predialysis out-patient follow-up (creatinine clearance: 20-60 mL/min/1.73 m(2)) (control group). Age, sex, weight, height, body mass index (BMI), chronic PD duration, episodes of peritonitis and the results of peritoneal equilibration test (PET) were recorded. Hemoglobin (Hb), blood pressure (BP), left ventricular mass index (LVMI) and renal osteodystrophy (ROD) parameters were also obtained. The thickness of the parietal peritoneum was measured by trans-abdominal US in all children. Statistical analyses were performed by using Student's t and Pearson's correlation tests. Mean peritoneal thickness in chronic PD patients (1028.26 +/- 157.26 mm) was significantly higher than control patients (786.52 +/- 132.33). Mean peritoneal thickness was significantly correlated with mean body height (R-2 = 0.93, p < 0.05), BMI (R-2 = 0.25, p < 0.05), chronic PD duration (R-2 = 0.64, p < 0.05), episodes of peritonitis (R-2 = 0.93, p < 0.05), D/P-creatinine (R-2 = 0.76, p < 0.05) and D4/D0(glucose) (R-2 = 0.81, p < 0.05). No correlation was found between peritoneal thickness and Hb, BP, LVMI and ROD parameters. In conclusion, ultrasonographic measurement of peritoneal membrane thickness is a simple and non-invasive method in chronic PD children. This diagnostic tool likely enables to assess peritoneal structure and function in these patients.Öğe The importance of ultrasonographic measurement of peritoneal wall thickness in pediatric chronic peritoneal dialysis patients(Taylor & Francis Ltd, 2015) Yavascan, Onder; Aksu, Nejat; Alparslan, Caner; Saritas, Serdar; Elmas, Cengiz Han; Eraslan, Ali Nihat; Duman, Soner; Mir, SevgiLoss of peritoneal function due to peritoneal fibrosing syndrome (PFS) is a major factor leading to treatment failure in chronic peritoneal dialysis (PD) patients. Although the precise biologic mechanisms responsible for these changes have not been defined, the general assumption is that alterations in peritoneal function are related to structural changes in the peritoneal membrane. Studies of the peritoneal membrane by non-invasive ultrasonography (US) in chronic PD patients are limited. The aim of the present study is to assess the relationship between functional parameters of peritoneum and peritoneal thickness measured by US in children treated by chronic PD. We recruited two groups of patients: 23 subjects (13 females, 10 males) on chronic PD (patient group) and 26 (7 females, 19 males) on predialysis out-patient follow-up (creatinine clearance: 20-60 mL/min/1.73 m(2)) (control group). Age, sex, weight, height, body mass index (BMI), chronic PD duration, episodes of peritonitis and the results of peritoneal equilibration test (PET) were recorded. Hemoglobin (Hb), blood pressure (BP), left ventricular mass index (LVMI) and renal osteodystrophy (ROD) parameters were also obtained. The thickness of the parietal peritoneum was measured by trans-abdominal US in all children. Statistical analyses were performed by using Student's t and Pearson's correlation tests. Mean peritoneal thickness in chronic PD patients (1028.26 +/- 157.26 mm) was significantly higher than control patients (786.52 +/- 132.33). Mean peritoneal thickness was significantly correlated with mean body height (R-2 = 0.93, p < 0.05), BMI (R-2 = 0.25, p < 0.05), chronic PD duration (R-2 = 0.64, p < 0.05), episodes of peritonitis (R-2 = 0.93, p < 0.05), D/P-creatinine (R-2 = 0.76, p < 0.05) and D4/D0(glucose) (R-2 = 0.81, p < 0.05). No correlation was found between peritoneal thickness and Hb, BP, LVMI and ROD parameters. In conclusion, ultrasonographic measurement of peritoneal membrane thickness is a simple and non-invasive method in chronic PD children. This diagnostic tool likely enables to assess peritoneal structure and function in these patients.Öğe The importance of ultrasonographic measurement of peritoneal wall thickness in pediatric chronic peritoneal dialysis patients(Taylor & Francis Ltd, 2015) Yavascan, Onder; Aksu, Nejat; Alparslan, Caner; Saritas, Serdar; Elmas, Cengiz Han; Eraslan, Ali Nihat; Duman, Soner; Mir, SevgiLoss of peritoneal function due to peritoneal fibrosing syndrome (PFS) is a major factor leading to treatment failure in chronic peritoneal dialysis (PD) patients. Although the precise biologic mechanisms responsible for these changes have not been defined, the general assumption is that alterations in peritoneal function are related to structural changes in the peritoneal membrane. Studies of the peritoneal membrane by non-invasive ultrasonography (US) in chronic PD patients are limited. The aim of the present study is to assess the relationship between functional parameters of peritoneum and peritoneal thickness measured by US in children treated by chronic PD. We recruited two groups of patients: 23 subjects (13 females, 10 males) on chronic PD (patient group) and 26 (7 females, 19 males) on predialysis out-patient follow-up (creatinine clearance: 20-60 mL/min/1.73 m(2)) (control group). Age, sex, weight, height, body mass index (BMI), chronic PD duration, episodes of peritonitis and the results of peritoneal equilibration test (PET) were recorded. Hemoglobin (Hb), blood pressure (BP), left ventricular mass index (LVMI) and renal osteodystrophy (ROD) parameters were also obtained. The thickness of the parietal peritoneum was measured by trans-abdominal US in all children. Statistical analyses were performed by using Student's t and Pearson's correlation tests. Mean peritoneal thickness in chronic PD patients (1028.26 +/- 157.26 mm) was significantly higher than control patients (786.52 +/- 132.33). Mean peritoneal thickness was significantly correlated with mean body height (R-2 = 0.93, p < 0.05), BMI (R-2 = 0.25, p < 0.05), chronic PD duration (R-2 = 0.64, p < 0.05), episodes of peritonitis (R-2 = 0.93, p < 0.05), D/P-creatinine (R-2 = 0.76, p < 0.05) and D4/D0(glucose) (R-2 = 0.81, p < 0.05). No correlation was found between peritoneal thickness and Hb, BP, LVMI and ROD parameters. In conclusion, ultrasonographic measurement of peritoneal membrane thickness is a simple and non-invasive method in chronic PD children. This diagnostic tool likely enables to assess peritoneal structure and function in these patients.Öğe INTESTINAL PARASITOSIS IN CHILDREN FALLOWING RENAL TRANSPLANTATION(Springer, 2018) Soyaltin, Eren; Turgay, Nevin; Yavascan, Onder; Alparslan, Caner; Demir, Belde Kasap; Alaygut, Demet; Camlar, Secil Arslansoyu; Mutlubas, FatmaÖğe Kidney transplantation in a child with bladder dysfunction who underwent prior bladder augmentation: A case report(Springer, 2013) Alparslan, Caner; Yavascan, Onder; Dogan, Sait Murat; Tugmen, Cem; Karaca, Cezmi; Avanoglu, Ali; Ulman, Ibrahim; Aksu, NejatÖğe A new recommendation for febrile urinary tract infection in children aged 2-24 months: Tepecik UTI Guideline-2(Oxford Univ Press, 2022) Cezayir, Begum Koyun; Yavascan, Onder; Alaygut, Demet; Demir, Belde Kasap; Mutlubas, Fatma; Camlar, Secil Arslansoyu; Alparslan, CanerAim: Urinary tract infections (UTIs) represent a common febrile illness in infancy. The study compared two UTI guidelines in terms of number of imaging studies, presence of parenchymal damage and radiation exposure in patients with the first febrile UTI between 2 and 24months of age. Method: The results of Tepecik UTI Guideline-1 used until 2012 (Group 1, n=105) were retrospectively compared with Tepecik UTI Guideline-2 (Group 2) used after 2013. In Group 1, urinary tract ultrasonography (US), dimercaptosuccinic acid (DMSA) and voiding cystourethrography (VCUG) were made in all patients. In Group 2, if the US result was abnormal, patients were evaluated with VCUG and DMSA. If the US was normal, only DMSA was performed. If the DMSA was abnormal, the VCUG was undergone (n: 43, 40.9%). Results: The abnormal VCUG detection rate was 69.2% in Group 1 and 30.8% in Group 2 (p=0.09). Sensitivity and specificity of US in the diagnosis of vesicoureteral reflux (VUR) was 15.9% and 96.7% in Group 1 and 61.5% and 70.5% in Group 2, respectively. Abnormal DMSA findings were observed among 33.3% (Groups 1) and 66.7% (Groups 2) subjects, respectively (p>0.05). The median radiation exposure (500mrem) of patients in Group 1 was statistically significantly higher than those in Group 2 (200mrem) (p<0.001). Conclusion: The VCUG should not be the first examination to be considered in such patients. We think that Tepecik UTI Guideline-2 reduces unnecessary invasive procedure and radiation exposure and not missed VUR in the management of children with UTI at 2-24months. Needs prospective follow-up studies before considering this recommendation.Öğe Superselective Angiographic Embolization for Arteriovenous Fistula after a Protocol Biopsy in a Kidney Transplanted Child(Springer India, 2016) Saritas, Serdar; Alparslan, Caner; Elmas, Cengiz Han; Bozkaya, Halil; Yavascan, Onder; Karaca, Cezmi; Mutlubas, Fatma; Demir, Belde Kasap; Dogan, Murat Sait; Aksu, NejatÖğe Superselective Angiographic Embolization For Arteriovenous Fistula After Protocol Renal Transplant Biopsy In A Child(Springer, 2014) Aksu, Nejat; Bozkaya, Halil; Yavascan, Onder; Saritas, Serdar; Elmas, Cengiz Han; Alparslan, Caner; Ozsan, Fatma Mutlubas; Demir, Belde KasapÖğe An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation(2015) Çatlı, Gönül; Alparslan, Caner; Can, P Şule; Akbay, Sinem; Kelekçi, Sefa; Atik, Tahir; Dündar, Bumin N46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-yearold girl presented to our clinic with the complaint of primary amenorrhea. on physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.Öğe An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation(Galenos Yayincilik, 2015) Catli, Gonul; Alparslan, Caner; Can, P. Sule; Akbay, Sinem; Kelekci, Sefa; Atik, Tahir; Ozyilmaz, Berk; Dundar, Bumin N.46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.Öğe An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation(Galenos Yayincilik, 2015) Catli, Gonul; Alparslan, Caner; Can, P. Sule; Akbay, Sinem; Kelekci, Sefa; Atik, Tahir; Ozyilmaz, Berk; Dundar, Bumin N.46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.Öğe An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation(Galenos Yayincilik, 2015) Catli, Gonul; Alparslan, Caner; Can, P. Sule; Akbay, Sinem; Kelekci, Sefa; Atik, Tahir; Ozyilmaz, Berk; Dundar, Bumin N.46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor.Öğe Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report(Informa Healthcare, 2014) Kose, Engin; Kose, Seda Sirin; Alparslan, Caner; Demir, Belde Kasap; Berdeli, Afig; Ozsan, Fatma Mutlubas; Yavascan, Onder; Aksu, NejatA young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. Based on clinical findings (delayed growth and O-bein deformity) and laboratory tests (hypokalemia, hyperchloremia, partially compensated metabolic acidosis, alkaline urine and nephrocalsinosis), a diagnosis of distal renal tubular acidosis (dRTA) was made. Then, the audiogram revealed a bilateral sensorineural hearing loss (SNHL). On follow-up, bilateral SNHL progressively worsened requiring the need for hearing aid. The ATP6V0A4 gene mutation analysis showed homozygote Val2Ala mutation. To the best of our knowledge, this is the first report describing a Turkish girl with dRTA who suffered from early-onset SNHL caused by Val2Ala mutation in the ATP6V0A4 gene.Öğe Veziko üreteral reflülü çocuklarda prognozu kötüleştiren risk faktörlerinin retrospektif bir çalışma ile değerlendirilmesi(2019) Keskinoğlu, Ahmet; Özgür, Su; Yavaşcan, Önder; Alparslan, Caner; Keskinoğlu, PembeAmaç: Vezikoüreteral reflü (VUR) genelde tekrarlayan üriner enfeksiyonlarla birlikte olan ve böbrek parankiminde hasara yol açabilen, çocukluk çağında sık görülen bir sorundur. Tüm çocuk nüfusunun %0,5-1,5’inde görülür. Tedavi edilerek kontrol edilmezse, kronik böbrek yetmezliğine neden olabilir. Vezikoüreteral reflüde prognozun kötüleşmesi; reflü nefropatisi, skar gelişmesi ve kronik böbrek yetersizliği tablosunun gelişmesi ile anlaşılmaktadır. Bu çalışmada, VUR’lü olguların özelliklerini tanımlamak ve kötü prognoza neden olan riskleri saptamak amaçlanmıştır, Gereç ve Yöntem: 1990-2014 yılları başvurularını kapsayan kesitsel bir çalışma gerçekleştirildi. Retrospektif olarak veriler kayıtlardan toplandı. Sonuç değişkeni VUR kötü prognozudur ve skar varlığı, reflü nefropatisi, kronik böbrek hastalığı gelişmesi ile belirlenmiştir. Kayıtlardan alınan demografik, öz-soygeçmiş, klinik özellikler nedenler olarak incelenmiştir. Veri analizinde sayı ve yüzdelerle tanımlayıcı sunulan veriler ki-kare ve çok değişkenli lojistik regresyon analizi ile SPSS 24.0 programı ile çözümlenmiştir, p<0,05 istatistik anlamlılık sınır değeri kabul edilmiştir. Bulgular: Vezikoüreteral reflülü çocuğun 2 yaş ve altında olması ve öyküde bildirilen idrar yolu enfeksiyonu varlığı prognozun kötüleşme nedeni olarak bulunmuştur. İzlem sonrası idrar yolu enfeksiyonu sayısının prognozu etkilemediği belirlenmiştir. Sonuç: Bu çalışmada indirek bir bulgu olarak elde edilen sonuca göre, VUR’lu çocuğun izlemde iyi yönetilmesi ile prognoza olumlu katkı ortaya konulmuştur.
