Gül Mutlu - Academia.edu (original) (raw)
Papers by Gül Mutlu
Objectives: The reactive oxygen species and their active intermediate metabolites produced by cig... more Objectives: The reactive oxygen species and their active intermediate metabolites produced by cigarette smoke may create oxidative damage on mitochondrial DNA. Damages of mtDNA may trigger mitochondrial dysfunction. Mitochondria contribute to cardiac dysfunction and myocyte injury via a loss of metabolic capacity and by the production and release of toxic products. Reactive oxygen species induce myocyte hypertrophy, apoptosis, and interstitial fibrosis. These cellular events play an important role in the development and progression of maladaptive cardiac remodeling and failure. Oxidative mtDNA damage that have been created by cigarette smoke and possible protective effects of Vitamin E and selenium which are powerful antioxidants were measured in the heart tissue of Mus musculus in this study. Methods: Quantitative polymerase chain reaction method was used to measure oxidative damage and mtDNA copy number in heart tissue. It is highly sensitive for measuring DNA damage and repair. 6 groups were designed for the Cigarette Smoke, Vitamin E and Selenium applications. Results and Conclusion: According to our results cigarette smoke induced the oxidative mtDNA damage in the heart tissue of mice. Also these results have been obtained to suggest that the antioxidant supplementation may prevent this damage. This is important for the children who had smoker parents and all second-hand smokers especially.
International Journal of Pediatric Endocrinology, 2011
Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major h... more Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major health problem. Additionally, the increase of cases of rickets in children of some ethnic groups in the United States and European countries has provided this issue to be updated. Obviously, powerful strategies are necessary to prevent vitamin D deficiency nation-wide. In 2005, a nationwide prevention program for vitamin D deficiency was initiated, recommending 400 IU vitamin D per a day. This study was designed to evaluate the efficacy of the prevention program. Methods: Eighty-five infants who were recalled as part of the national screening program for congenital hypothyroidism between February 2010 and August 2010 at Kocaeli University Children's Hospital were evaluated in terms of their vitamin D status as well. All babies had been provided with free vitamin D (Cholecalciferol) solution and recommended to receive 400 IU (3 drops) daily. Information regarding the age at start of supplementation, the dosage and compliance were obtained from the mothers with face-to-face interview. Serum 25-hydroxy vitamin D (25-OH-D), alkaline phosphatase (AP), parathormone (PTH) levels were measured. Results: The mean age at which Vitamin D3 supplementation began was 16.5 ± 20.7 (3-120) days. Ninety percent of cases (n:76) were receiving 3 drops (400 IU) vitamin D3 per day as recommended; 70% of cases (n:59) were given vitamin D3 regularly, the remainder had imperfect compliance. Among those children who are older than 12 months, only 20% continued vitamin D supplementation. No subject had clinical signs of rickets. The mean 25- 5 ± 25,8 (median: 38.3) ng/ml. Ten subjects (12%) had their serum 25-OH-D levels lower than 20 ng/ ml (6 between 15-20 ng/ml, 3 between 5-15 ng/ml and only one < 5 ng/ml). Conclusions: 400 U/day vitamin D seems adequate to prevent vitamin D deficiency. However, we believe that the program for preventing vitamin D deficiency in Turkey, needs to be reinforced to start immediately after birth, and to continue beyond 1 year of age at 400U regular daily dosage.
Journal of Clinical Research in Pediatric Endocrinology, 2014
This 85-day-old female infant was referred to our clinic because of elevated serum alkaline phosp... more This 85-day-old female infant was referred to our clinic because of elevated serum alkaline phosphatase (ALP) levels. She was delivered in the 31 st gestational week with a birth
Journal of Clinical Research in Pediatric Endocrinology, 2014
International Journal of Dermatology, 2012
Journal of Pediatric Endocrinology and Metabolism, 2015
46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual developm... more 46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.
Journal of Clinical Research in Pediatric Endocrinology, 2014
Pediatric Dermatology, 2013
We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of ... more We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.
Journal of Pediatric Endocrinology and Metabolism, 2000
Keywords 47,XYY/46,XY/45,X-cyclical haematuriamixed gonadal dysgenesis-ovotesticular disorder of ... more Keywords 47,XYY/46,XY/45,X-cyclical haematuriamixed gonadal dysgenesis-ovotesticular disorder of sexual development-true hermaphrodite Summary Ovotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15-year-old having male body habitus, axillary and pubic hair, well-developed penis and rightdescended testis with history of penoscrotal hypospadias correction, presenting with three episodes of cyclical haematuria, who biochemically had normal serum testosterone (338 ng dl À1 ) which increased following hCG stimulation (614 ng dl À1 ), elevated estradiol (17.35 pg ml À1 ) along with elevated luteinising hormone (11.3 mIU l À1 ) and follicle-stimulating hormone (31 mIU l À1 ). Ultrasonography followed by micturating cystourethrogram and cystoscopy confirmed the presence of prostate, uterus, cervix and vagina draining into the urogenital sinus continuing till the penile urethra and left intra-abdominal gonad. Patient underwent hysterectomy and left gonadectomy. Histopathologic study of resected gonad confirmed presence of ovotestis. Low estradiol (1.2 pg ml À1 ) following gonadectomy confirmed the ovotestis origin of estradiol. Chromosomal analysis revealed complex karyotype predominant being 47,XYY (50%) followed by 46,XY (26%) and 45,X (24%). This is perhaps the first report of 47,XYY/46,XY/45,X causing OTDSD in a phenotypic male.
Indian Journal of Pediatrics, 2007
A term neonate born to a 37 year old mother was admitted to our Neonatology Unit because of jaund... more A term neonate born to a 37 year old mother was admitted to our Neonatology Unit because of jaundice and abdominal distention. Gastrointestinal examination revealed abdominal distention and a palpable abdominal mass in right upper quadrant. After the initial radiological studies, it was clear that the mass originated from liver. At postnatal 15th day alfa-feto protein was found to be 60.500 ng/ml(normal level (2 week-1 month):9.452±12.610 ng/ml). While due to relatively high frequency in infancy and the type of contrast material enhancement in imaging studies suggested an infantile hemangioendothelioma (IHE), heterogenous nature of the lesion and high AFP levels were consistent with a hepatoblastoma (HB). Since accurate diagnosis could not be achieved by radiological studies a liver biopsy is performed. After the pathological examination of the tru-cut liver biopsy specimen, histomorphological and immunohistochemical findings were consistent with the epithelial component of an embryonal type hepatoblastoma.
Hormone Research in Paediatrics, 2014
Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, ... more Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study. The study group consisted of 91 pregnant women aged 16-42 years admitted to Kocaeli Maternity and Children Hospital between April 2011 and April 2012. The participants were randomly divided into 3 groups. 600, 1,200, and 2,000 IU/day of vitamin D was supplemented to group 1 (control group, n = 31), group 2 (n = 31), and group 3 (n = 32), respectively. Serum calcium, 25-hydroxyvitamin D (25OHD), and the calcium/creatinine ratio in spot urine samples were measured in the follow-up period. The serum calcium and 25OHD levels of the mothers&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; infants were measured as well. The frequency of vitamin D sufficiency after supplementation was 80% in group 3 and it was significantly higher than in groups 1 (42%) and 2 (39%) (p = 0.03). The frequency of vitamin D sufficiency in the infants of the participants was 91% in group 3 and it was significantly higher than in groups 1 (36%) and 2 (52%) (p = 0.006). At least 2,000 IU/day of vitamin D is needed to ensure adequate vitamin D status in pregnancy and early infancy.
International Journal of Pediatric Endocrinology, 2011
Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major h... more Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major health problem. Additionally, the increase of cases of rickets in children of some ethnic groups in the United States and European countries has provided this issue to be updated. Obviously, powerful strategies are necessary to prevent vitamin D deficiency nation-wide. In 2005, a nationwide prevention program for vitamin D deficiency was initiated, recommending 400 IU vitamin D per a day. This study was designed to evaluate the efficacy of the prevention program. Methods: Eighty-five infants who were recalled as part of the national screening program for congenital hypothyroidism between February 2010 and August 2010 at Kocaeli University Children's Hospital were evaluated in terms of their vitamin D status as well. All babies had been provided with free vitamin D (Cholecalciferol) solution and recommended to receive 400 IU (3 drops) daily. Information regarding the age at start of supplementation, the dosage and compliance were obtained from the mothers with face-to-face interview. Serum 25-hydroxy vitamin D (25-OH-D), alkaline phosphatase (AP), parathormone (PTH) levels were measured. Results: The mean age at which Vitamin D3 supplementation began was 16.5 ± 20.7 (3-120) days. Ninety percent of cases (n:76) were receiving 3 drops (400 IU) vitamin D3 per day as recommended; 70% of cases (n:59) were given vitamin D3 regularly, the remainder had imperfect compliance. Among those children who are older than 12 months, only 20% continued vitamin D supplementation. No subject had clinical signs of rickets. The mean 25- 5 ± 25,8 (median: 38.3) ng/ml. Ten subjects (12%) had their serum 25-OH-D levels lower than 20 ng/ ml (6 between 15-20 ng/ml, 3 between 5-15 ng/ml and only one < 5 ng/ml). Conclusions: 400 U/day vitamin D seems adequate to prevent vitamin D deficiency. However, we believe that the program for preventing vitamin D deficiency in Turkey, needs to be reinforced to start immediately after birth, and to continue beyond 1 year of age at 400U regular daily dosage.
Objectives: The reactive oxygen species and their active intermediate metabolites produced by cig... more Objectives: The reactive oxygen species and their active intermediate metabolites produced by cigarette smoke may create oxidative damage on mitochondrial DNA. Damages of mtDNA may trigger mitochondrial dysfunction. Mitochondria contribute to cardiac dysfunction and myocyte injury via a loss of metabolic capacity and by the production and release of toxic products. Reactive oxygen species induce myocyte hypertrophy, apoptosis, and interstitial fibrosis. These cellular events play an important role in the development and progression of maladaptive cardiac remodeling and failure. Oxidative mtDNA damage that have been created by cigarette smoke and possible protective effects of Vitamin E and selenium which are powerful antioxidants were measured in the heart tissue of Mus musculus in this study. Methods: Quantitative polymerase chain reaction method was used to measure oxidative damage and mtDNA copy number in heart tissue. It is highly sensitive for measuring DNA damage and repair. 6 groups were designed for the Cigarette Smoke, Vitamin E and Selenium applications. Results and Conclusion: According to our results cigarette smoke induced the oxidative mtDNA damage in the heart tissue of mice. Also these results have been obtained to suggest that the antioxidant supplementation may prevent this damage. This is important for the children who had smoker parents and all second-hand smokers especially.
International Journal of Pediatric Endocrinology, 2011
Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major h... more Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major health problem. Additionally, the increase of cases of rickets in children of some ethnic groups in the United States and European countries has provided this issue to be updated. Obviously, powerful strategies are necessary to prevent vitamin D deficiency nation-wide. In 2005, a nationwide prevention program for vitamin D deficiency was initiated, recommending 400 IU vitamin D per a day. This study was designed to evaluate the efficacy of the prevention program. Methods: Eighty-five infants who were recalled as part of the national screening program for congenital hypothyroidism between February 2010 and August 2010 at Kocaeli University Children's Hospital were evaluated in terms of their vitamin D status as well. All babies had been provided with free vitamin D (Cholecalciferol) solution and recommended to receive 400 IU (3 drops) daily. Information regarding the age at start of supplementation, the dosage and compliance were obtained from the mothers with face-to-face interview. Serum 25-hydroxy vitamin D (25-OH-D), alkaline phosphatase (AP), parathormone (PTH) levels were measured. Results: The mean age at which Vitamin D3 supplementation began was 16.5 ± 20.7 (3-120) days. Ninety percent of cases (n:76) were receiving 3 drops (400 IU) vitamin D3 per day as recommended; 70% of cases (n:59) were given vitamin D3 regularly, the remainder had imperfect compliance. Among those children who are older than 12 months, only 20% continued vitamin D supplementation. No subject had clinical signs of rickets. The mean 25- 5 ± 25,8 (median: 38.3) ng/ml. Ten subjects (12%) had their serum 25-OH-D levels lower than 20 ng/ ml (6 between 15-20 ng/ml, 3 between 5-15 ng/ml and only one < 5 ng/ml). Conclusions: 400 U/day vitamin D seems adequate to prevent vitamin D deficiency. However, we believe that the program for preventing vitamin D deficiency in Turkey, needs to be reinforced to start immediately after birth, and to continue beyond 1 year of age at 400U regular daily dosage.
Journal of Clinical Research in Pediatric Endocrinology, 2014
This 85-day-old female infant was referred to our clinic because of elevated serum alkaline phosp... more This 85-day-old female infant was referred to our clinic because of elevated serum alkaline phosphatase (ALP) levels. She was delivered in the 31 st gestational week with a birth
Journal of Clinical Research in Pediatric Endocrinology, 2014
International Journal of Dermatology, 2012
Journal of Pediatric Endocrinology and Metabolism, 2015
46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual developm... more 46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.
Journal of Clinical Research in Pediatric Endocrinology, 2014
Pediatric Dermatology, 2013
We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of ... more We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.
Journal of Pediatric Endocrinology and Metabolism, 2000
Keywords 47,XYY/46,XY/45,X-cyclical haematuriamixed gonadal dysgenesis-ovotesticular disorder of ... more Keywords 47,XYY/46,XY/45,X-cyclical haematuriamixed gonadal dysgenesis-ovotesticular disorder of sexual development-true hermaphrodite Summary Ovotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15-year-old having male body habitus, axillary and pubic hair, well-developed penis and rightdescended testis with history of penoscrotal hypospadias correction, presenting with three episodes of cyclical haematuria, who biochemically had normal serum testosterone (338 ng dl À1 ) which increased following hCG stimulation (614 ng dl À1 ), elevated estradiol (17.35 pg ml À1 ) along with elevated luteinising hormone (11.3 mIU l À1 ) and follicle-stimulating hormone (31 mIU l À1 ). Ultrasonography followed by micturating cystourethrogram and cystoscopy confirmed the presence of prostate, uterus, cervix and vagina draining into the urogenital sinus continuing till the penile urethra and left intra-abdominal gonad. Patient underwent hysterectomy and left gonadectomy. Histopathologic study of resected gonad confirmed presence of ovotestis. Low estradiol (1.2 pg ml À1 ) following gonadectomy confirmed the ovotestis origin of estradiol. Chromosomal analysis revealed complex karyotype predominant being 47,XYY (50%) followed by 46,XY (26%) and 45,X (24%). This is perhaps the first report of 47,XYY/46,XY/45,X causing OTDSD in a phenotypic male.
Indian Journal of Pediatrics, 2007
A term neonate born to a 37 year old mother was admitted to our Neonatology Unit because of jaund... more A term neonate born to a 37 year old mother was admitted to our Neonatology Unit because of jaundice and abdominal distention. Gastrointestinal examination revealed abdominal distention and a palpable abdominal mass in right upper quadrant. After the initial radiological studies, it was clear that the mass originated from liver. At postnatal 15th day alfa-feto protein was found to be 60.500 ng/ml(normal level (2 week-1 month):9.452±12.610 ng/ml). While due to relatively high frequency in infancy and the type of contrast material enhancement in imaging studies suggested an infantile hemangioendothelioma (IHE), heterogenous nature of the lesion and high AFP levels were consistent with a hepatoblastoma (HB). Since accurate diagnosis could not be achieved by radiological studies a liver biopsy is performed. After the pathological examination of the tru-cut liver biopsy specimen, histomorphological and immunohistochemical findings were consistent with the epithelial component of an embryonal type hepatoblastoma.
Hormone Research in Paediatrics, 2014
Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, ... more Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study. The study group consisted of 91 pregnant women aged 16-42 years admitted to Kocaeli Maternity and Children Hospital between April 2011 and April 2012. The participants were randomly divided into 3 groups. 600, 1,200, and 2,000 IU/day of vitamin D was supplemented to group 1 (control group, n = 31), group 2 (n = 31), and group 3 (n = 32), respectively. Serum calcium, 25-hydroxyvitamin D (25OHD), and the calcium/creatinine ratio in spot urine samples were measured in the follow-up period. The serum calcium and 25OHD levels of the mothers&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; infants were measured as well. The frequency of vitamin D sufficiency after supplementation was 80% in group 3 and it was significantly higher than in groups 1 (42%) and 2 (39%) (p = 0.03). The frequency of vitamin D sufficiency in the infants of the participants was 91% in group 3 and it was significantly higher than in groups 1 (36%) and 2 (52%) (p = 0.006). At least 2,000 IU/day of vitamin D is needed to ensure adequate vitamin D status in pregnancy and early infancy.
International Journal of Pediatric Endocrinology, 2011
Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major h... more Aim-objective: Vitamin D deficiency and rickets in developing countries continues to be a major health problem. Additionally, the increase of cases of rickets in children of some ethnic groups in the United States and European countries has provided this issue to be updated. Obviously, powerful strategies are necessary to prevent vitamin D deficiency nation-wide. In 2005, a nationwide prevention program for vitamin D deficiency was initiated, recommending 400 IU vitamin D per a day. This study was designed to evaluate the efficacy of the prevention program. Methods: Eighty-five infants who were recalled as part of the national screening program for congenital hypothyroidism between February 2010 and August 2010 at Kocaeli University Children's Hospital were evaluated in terms of their vitamin D status as well. All babies had been provided with free vitamin D (Cholecalciferol) solution and recommended to receive 400 IU (3 drops) daily. Information regarding the age at start of supplementation, the dosage and compliance were obtained from the mothers with face-to-face interview. Serum 25-hydroxy vitamin D (25-OH-D), alkaline phosphatase (AP), parathormone (PTH) levels were measured. Results: The mean age at which Vitamin D3 supplementation began was 16.5 ± 20.7 (3-120) days. Ninety percent of cases (n:76) were receiving 3 drops (400 IU) vitamin D3 per day as recommended; 70% of cases (n:59) were given vitamin D3 regularly, the remainder had imperfect compliance. Among those children who are older than 12 months, only 20% continued vitamin D supplementation. No subject had clinical signs of rickets. The mean 25- 5 ± 25,8 (median: 38.3) ng/ml. Ten subjects (12%) had their serum 25-OH-D levels lower than 20 ng/ ml (6 between 15-20 ng/ml, 3 between 5-15 ng/ml and only one < 5 ng/ml). Conclusions: 400 U/day vitamin D seems adequate to prevent vitamin D deficiency. However, we believe that the program for preventing vitamin D deficiency in Turkey, needs to be reinforced to start immediately after birth, and to continue beyond 1 year of age at 400U regular daily dosage.