117 results on '"Özsu, Elif"'
Search Results
2. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
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Altunoglu, Umut, Palencia-Campos, Adrian, Güneş, Nilay, Turgut, Gozde Tutku, Nevado, Julian, Lapunzina, Pablo, Valencia, Maria, Iturrate, Asier, Otaify, Ghada, Elhossini, Rasha, Ashour, Adel, Amin, Asmaa K., Elnahas, Rania F., Fernandez-Nuñez, Elisa, Flores, Carmen-Lisset, Arias, Pedro, Tenorio, Jair, Chamorro Fernández, Carlos Israel, Güven, Yeliz, and Özsu, Elif
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Background Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. Methods We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays. Main results We identified pathogenic variants in EVC/ EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3, respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated ’classical EvC findings’ in the literature and highlighted findings previously undescribed or rarely described as part of EvC. Conclusions This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC/EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome
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Kızılcan Çetin, Sirmen, primary, Özsu, Elif, additional, Şıklar, Zeynep, additional, Çakmaklı, Hasan Fatih, additional, Şenyazar, Gizem, additional, Aycan, Zehra, additional, Ceylaner, Serdar, additional, and Berberoğlu, Merih, additional
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- 2024
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4. A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
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ABSEYİ, Sema Nilay, primary, ŞIKLAR, Zeynep, additional, ÖZSU, Elif, additional, KAYI CANGIR, Ayten, additional, CABİ ÜNAL, Emel, additional, TAÇYILDIZ, Nurdan, additional, AYCAN, Zehra, additional, and BERBEROĞLU, Merih, additional
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- 2023
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5. Evaluation of Abnormal Uterine Bleeding in Adolescents: Single Center Experience
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Kızılcan Çetin, Sirmen, primary, Aycan, Zehra, additional, Özsu, Elif, additional, Şıklar, Zeynep, additional, Ceran, Ayşegül, additional, Erişen Karaca, Seda, additional, Şenyazar, Gizem, additional, and Berberoğlu, Merih, additional
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- 2023
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6. A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and Systematic Review
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Besci, Özge, primary, Fırat, Sevde Nur, additional, Özen, Samim, additional, Çetinkaya, Semra, additional, Akın, Leyla, additional, Kör, Yılmaz, additional, Pekkolay, Zafer, additional, Özalkak, Şervan, additional, Özsu, Elif, additional, Erdeve, Şenay Savaş, additional, Poyrazoğlu, Şükran, additional, Berberoğlu, Merih, additional, Aydın, Murat, additional, Omma, Tülay, additional, Akıncı, Barış, additional, Demir, Korcan, additional, and Oral, Elif Arioglu, additional
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- 2023
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7. Evaluation of Abnormal Uterine Bleeding in Adolescents: Single Center Experience.
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Çetin, Sirmen Kızılcan, Aycan, Zehra, Özsu, Elif, Şıklar, Zeynep, Ceran, Ayşegül, Karaca, Seda Erişen, Şenyazar, Gizem, and Berberoğlu, Merih
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UTERINE hemorrhage treatment ,UTERINE hemorrhage ,THROMBOSIS ,GENETIC mutation ,ANOVULATION ,RETROSPECTIVE studies ,MENARCHE ,COMPARATIVE studies ,MENORRHAGIA ,DESCRIPTIVE statistics ,BLOOD coagulation disorders ,ANEMIA ,LONGITUDINAL method ,ADOLESCENCE - Abstract
Objective: Abnormal uterine bleeding (AUB) is the most common gynecologic complaint in adolescent girls. The aim of this study was to identify the diagnostic and management differences between those with/without heavy menstrual bleeding. Methods: Retrospective data was collected from adolescents aged 10-19 years, diagnosed with AUB. Adolescents with known bleeding disorders at admission were excluded. All girls were classified according to the degree of anemia; group 1 had heavy bleeding [hemoglobin (Hb) <10 g/dL] and group 2 had moderate or mild bleeding (Hb >10 g/dL). Admission and follow-up characteristics were compared between the two groups. Results: The cohort consisted of 79 girls with a mean age of 14.3±1.8 years and mean age of menarche of 11.9±1.4 years, with 85% experiencing menstrual irregularity in the two years after menarche, rising to 95.3% in group 1 (p<0.01). Anovulation was evident in 80% of the cohort. Of these 79 girls, 13 (16.5%) had polycystic ovary syndrome and two (2.5%) had structural anomalies (uterus didelphys). Three girls (group 1, n=2) had previously undiagnosed clotting factor VII deficiency; no other clotting deficiencies were diagnosed. Nineteen of 34 (56%) with personal (n=2)/family history of thrombosis had MTHFR mutation. None had venous thromboembolism during follow-up of >6 months. Conclusion: The majority of AUB (85%) occurred in the first two years after menarche. A small proportion (3.8%) had undiagnosed clotting factor deficiency. The frequency of MTHFR mutation was 50% in girls with history of thrombosis; however this did not increase the risk of bleeding/thrombosis and so routine evaluation does not appear to be justified. [ABSTRACT FROM AUTHOR]
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- 2023
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8. A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.
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Besci, Özge, Fırat, Sevde Nur, Özen, Samim, Çetinkaya, Semra, Akın, Leyla, Kör, Yılmaz, Pekkolay, Zafer, Özalkak, Şervan, Özsu, Elif, Erdeve, Şenay Savaş, Poyrazoğlu, Şükran, Berberoğlu, Merih, Aydın, Murat, Omma, Tülay, Akıncı, Barış, Demir, Korcan, and Oral, Elif Arioglu
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LEPTIN receptors ,GENOTYPES - Abstract
Context: Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. Objective: To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships. Methods: Our cohort included 18 patients (LEP = 11, LEPR = 7), 8 of whom had been previously reported. A systematic literature review was conducted in July 2022. Forty-two of 47 studies on LEP/LEPR were selected. Results: Of 10 new cases, 2 novel pathogenic variants were identified in LEP (c.16delC) and LEPR (c.40 + 5G > C). Eleven patients with LEP deficiency received metreleptin, 4 of whom had been treated for over 20 years. One patient developed loss of efficacy associated with neutralizing antibody development. Of 152 patients, including 134 cases from the literature review in addition to our cases, frameshift variants were the most common (48%) in LEP and missense variants (35%) in LEPR. Patients with LEP deficiency were diagnosed at a younger age [3 (9) vs 7 (13) years, P = .02] and had a higher median body mass index (BMI) SD score [3.1 (2) vs 2.8 (1) kg/m², P = 0.02], which was more closely associated with frameshift variants (P = .02). Patients with LEP deficiency were more likely to have hyperinsulinemia (P = .02). Conclusion: Frameshift variants were more common in patients with LEP deficiency whereas missense variants were more common in LEPR deficiency. Patients with LEP deficiency were identified at younger ages, had higher BMI SD scores, and had higher rates of hyperinsulinemia than patients with LEPR deficiency. Eleven patients benefitted from long-term metreleptin, with 1 losing efficacy due to neutralizing antibodies. [ABSTRACT FROM AUTHOR]
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- 2023
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9. Evaluation of aggression level in adolescent girls with classical congenital adrenal hyperplasia.
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Isik, Recep Oğuzhan, Kizilcan Cetin, Sirmen, Cetinkaya, Semra, Berberoglu, Merih, Siklar, Zeynep, Özsu, Elif, and Aycan, Zehra
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ADRENOGENITAL syndrome ,TEENAGE girls ,PATIENTS ,AGGRESSION (Psychology) ,ADOLESCENCE ,INVECTIVE ,AGE groups - Abstract
Objective: In patients with classical congenital adrenal hyperplasia (CAH), virilization affects the brain and external genitalia due to antenatal androgen exposure. There are few studies on how the effects of androgens on brain virilization are reflected in behavior. However, there is no study focused on the adolescence period. The aim of this study was to evaluate the level of aggression in adolescent girls with classical CAH (due to 21 hydroxylase and 11β hydroxylase deficiency) and to investigate the disease‐related factors that may affect aggression. Design: Twenty female and 20 male patients aged 13–20 years, diagnosed with classical CAH, with 21 hydroxylase deficiency and 11β hydroxylase deficiency, and 20 healthy girls and 20 boys from the same age group were included. The Buss‐Perry Aggression Scale (BPAS), which consists of four subgroups measuring physical aggression, verbal aggression, hostility, and angry behaviors, was used. Results: The ages of the male and female patients with CAH were 16.30 ± 2.65 and 16.60 ± 2.41 years, respectively. Total aggression scale scores were 73.3 ± 14.6 in adolescent girls with CAH, 74.1 ± 11.2 in healthy girls, 71.5 ± 14.8 in boys with CAH, and 75.3 ± 14.5 in healthy boys (p >.05). There was no difference between the subscale scores of patients and healthy adolescents. Aggression scores in adolescents with CAH increased significantly with age. Conclusions: In this study, we found no difference between the aggression scores of adolescents with classical CAH compared to their healthy peers. The total aggression score and subscale were similar in unaffected female adolescents. [ABSTRACT FROM AUTHOR]
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- 2023
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10. Fibroblast Growth Factor 21 Levels and Bone Mineral Density in Metabolically Healthy and Metabolically Unhealthy Obese Children
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Akduman, Filiz, primary, Şıklar, Zeynep, additional, Özsu, Elif, additional, Doğan, Özlem, additional, Kır, Kemal Metin, additional, and Berberoğlu, Merih, additional
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- 2022
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11. The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results
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Kızılcan Çetin, Sirmen, primary, Ramoğlu, Mehmet Gökhan, additional, Şıklar, Zeynep, additional, Özsu, Elif, additional, Aycan, Zehra, additional, Tutar, Hasan Ercan, additional, and Berberoğlu, Merih, additional
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- 2022
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12. A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants
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Oral, Elif Arioglu, DEMİR, KORCAN, AKINCI, BARIŞ, Omma, Tulay, Aydin, Murat, BERBEROĞLU, MERİH, Poyrazoglu, Sukran, Erdeve, Senay Savas, ÖZSU, ELİF, Ozalkak, Servan, PEKKOLAY, ZAFER, Kor, Yilmaz, Akin, Leyla, Cetinkaya, Semra, ÖZEN, SAMİM, Firat, Sevde Nur, and BESCİ, ÖZGE
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- 2022
13. Evaluation of the etiological and clinical characteristics of pediatric central diabetes insipidus
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Gasimova, Elnare, primary, Berberoğlu, Merih, additional, Özsu, Elif, additional, Aycan, Zehra, additional, Uyanık, Rukiye, additional, Bilici, Esra, additional, Ceran, Ayşegül, additional, and Şiklar, Zeynep, additional
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- 2022
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14. Clinical Characteristics and Treatment Outcomes of Children with Primary Osteoporosis.
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Çetin, Sirmen Kızılcan, Şıklar, Zeynep, Aycan, Zehra, Özsu, Elif, Ceran, Ayşegül, Şenyazar, Gizem, Karaca, Seda Erişen, and Berberoğlu, Merih
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DRUG therapy ,DIPHOSPHONATES ,BONE fracture prevention ,OSTEOPOROSIS prevention ,STATISTICS ,NONPARAMETRIC statistics ,CONFIDENCE intervals ,ACQUISITION of data ,RETROSPECTIVE studies ,OSTEOPOROSIS ,TREATMENT effectiveness ,T-test (Statistics) ,MEDICAL records ,DESCRIPTIVE statistics ,BONE density ,DATA analysis software ,DATA analysis ,SYMPTOMS ,EVALUATION ,CHILDREN - Abstract
Objective: Primary osteoporosis is a rare and essential problem in childhood that can cause severe skeletal deformities. We aimed to reveal the spectrum of primary osteoporosis and assess the effectiveness and safety of bisphosphonates in increasing bone mineral density and reducing fractures. Materials and Methods: Patients with primary osteoporosis who received at least one course of pamidronate or zoledronic acid were included in the study. Patients were divided into 2 groups, osteogenesis imperfecta and non-osteogenesis imperfecta subjects. We evaluated bone densitometer parameters, activation scores, pain status, deformity status, and the number of fractures per year in all patients. Results: Of the 31 patients, 21 with osteogenesis imperfect, 3 patients with spondyloocular syndromes, 2 with Bruck Syndrome, and 5 with idiopathic juvenile osteoporosis were included. A total of 21 patients had received pamidronate treatment, while only 4 received zoledronic acid, and 6 of them switched from pamidronate to zoledronic acid. At the end of the treatment, the mean bone mineral density height-adjusted Z-score increased from −3.39 ± 1.30 to −0.95 ± 1.34. The number of fractures per year decreased from 2.28 ± 2.67 to 0.29 ± 0.69. The activation score increased from 2.81 ± 1.47 to 3.16 ± 1.48. The pain decreased significantly. There was no difference in bone mineral density increase in patients treated with pamidronate or zoledronic acid. Conclusion: Those with osteogenesis imperfecta were diagnosed at an earlier age with severe deformity and fractures. Pamidronate and zoledronic acid increased bone mineral density in all types of primary osteoporosis. [ABSTRACT FROM AUTHOR]
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- 2023
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15. Clinical Profile of Parathyroid Adenoma in Children and Adolescents: A Single-Center Experience.
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Çetin, Sirmen Kızılcan, Şıklar, Zeynep, Aycan, Zehra, Özsu, Elif, Ceran, Ayşegül, Karaca, Seda Erisen, Senyazar, Gizem, and Berberoğlu, Merih
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HYPERCALCEMIA ,MYALGIA ,NAUSEA ,SEQUENCE analysis ,CONSTIPATION ,ADENOMA ,HYPERPARATHYROIDISM ,MUSCLE weakness ,PARATHYROID gland tumors ,DESCRIPTIVE statistics ,PANCREATITIS ,ANOREXIA nervosa ,DATA analysis software ,EARLY diagnosis ,SYMPTOMS ,CHILDREN ,ADOLESCENCE - Abstract
Objective: Parathyroid adenoma is less common than in adulthood, but its morbidity is higher in children. We aimed to evaluate the clinical characteristics of parathyroid adenoma and our clinical experience since the early disease is often asymptomatic and late diagnosed. Materials and Methods: From 2010 to 2020, all children diagnosed with parathyroid adenoma at our institution were reviewed. We evaluated clinical, biochemical, and radiological aspects and follow-up characteristics. Results: Eight subjects (F/M = 6/2) ranged in age from 10 to 17 years. Three were symptomatic. The symptoms and findings were stomachache (n = 3), myalgia (n = 2), weakness (n = 2), pancreatitis (n = 1), constipation (n = 1), nausea (n = 1), bone ache (n = 1), and anorexia (n = 1). Laboratory findings on admission were as follows: the mean calcium was 12.59 ± 1.28 (11.2-15.3) mg/dL and the mean parathyroid hormone was 244.81 ± 173.61 (74.9-645.4) pg/mL. The most common localization was the lower part of the left parathyroid gland. Parathyroid adenoma could not be demonstrated by ultrasonography in 2 patients. Tc-99m-Sestamibi scintigraphy revealed the presence of parathyroid adenoma in only 7 of 8 patients. All underwent parathyroidectomy. In our follow-up, 2 subjects needed reoperation. A molecular analysis of 6 cases could be done. One was MEN1 positive. RET sequence analysis of 2, and Casr, GNA11, and AP2S1 sequence analysis of 3 were normal. Conclusion: Parathyroid adenoma should be considered in children older than the first decade with hypercalcemia. Suspected cases should undergo both ultrasonography and scintigraphy. Early diagnosis prevents the patients from serious complications of hypercalcemia such as nephrocalcinosis, diabetes insipid, and arrhythmia. It is significant to perform surgery in centers experienced in parathyroidectomy to minimize postoperative complications. [ABSTRACT FROM AUTHOR]
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- 2023
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16. Hyperprolactinemia in children and adolescents and longterm follow-up results of prolactinoma cases: a single-centre experience
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Kontbay, Tuğba, primary, Şıklar, Zeynep, additional, Özsu, Elif, additional, Uyanık, Rukiye, additional, Bilici, Esra, additional, Ceran, Ayşegül, additional, and Berberoğlu, Merih, additional
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- 2022
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17. The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results.
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Çetin, Sirmen Kızılcan, Ramoğlu, Mehmet Gökhan, Şıklar, Zeynep, Özsu, Elif, Aycan, Zehra, Tutar, Hasan Ercan, and Berberoğlu, Merih
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CARDIOVASCULAR diseases risk factors ,STATURE ,NOONAN syndrome ,HUMAN growth hormone ,TREATMENT effectiveness ,PRE-tests & post-tests ,DESCRIPTIVE statistics ,LONGITUDINAL method - Abstract
Objective: Cardiac involvement is common in Noonan syndrome (NS). Concerns have been raised regarding the effect of recombinant growth hormone (rGH) use on ventricular wall thickness and a possible increased risk of cardiac side effects. This study aimed to investigate the effect of rGH on the development of hypertrophic cardiomyopathy and other cardiac findings in NS. Methods: Patients under the age of 18 years and diagnosed with NS according to the Van der Burgt criteria, were included. Patients were divided into two groups according to those receiving rGH or not at the time of obtaining cardiac measurements. Before and after the treatment, electrocardiographic and echocardiographic (ECHO) assessments were made, including interventricular septal thickness, left ventricular internal diameter, and left ventricular posterior thickness. Results were expressed as Z scores. Results: Twenty-four NS subjects (16 boys, eight girls) were included. At the beginning of the follow up, the overall height standard deviation score was -2.56±0.94. Sixteen were on rGH. The mean rGH treatment duration was 8.3±3.8 years, and the mean dose was 0.22±0.04 mg/kg/week. The final height was 169±8.2 cm, and 10 of 11 patients who reached the final height received rGH. There was no difference between the rGH and non-rGH groups in terms of ECHO parameters pre-and post-treatment. Conclusion: In this cohort, there was no change in ECHO parameters on rGH and during follow-up. These results suggest that rGH is safe in NS patients with cardiac pathology under close follow-up. [ABSTRACT FROM AUTHOR]
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- 2022
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18. Hyperprolactinemia in children and adolescents and long-term follow-up results of prolactinoma cases: a single-centre experience.
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Kontbay, Tuğba, Şıklar, Zeynep, Özsu, Elif, Uyanık, Rukiye, Bilici, Esra, Ceran, Ayşegül, and Berberoğlu, Merih
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Background. Hyperprolactinaemia refers to increased circulating prolactin and is divided into functional and pathological hyperprolactinaemia. Prolactinoma is the most common cause of severe hyperprolactinaemia. Prolactinomas are rare in children. Treatment outcomes and long-term follow-up data in children are insufficient. Dopamine agonists are the first step in the treatment of prolactinomas. There are no recommendations supported by a high level of evidence regarding the dose and duration of cabergoline treatment. Methods. Patients with hyperprolactinaemia were evaluated for etiological, clinical, and follow-up characteristics. The case files of patients with high prolactin levels who were followed up in our clinic between 2001 and 2019 were reviewed retrospectively. Results. 27 cases (20 female, 7 male) with hyperprolactinemia were detected. The median age of the cases was 15 years (0.3-17.4). Prolactinoma was detected in 40.7% of the cases (n=11). Among these cases, six were macroadenomas. The median prolactin level was 118 ng/mL (34-4340) in those with prolactinoma and 60 ng/mL (22-200) in the hyperprolactinaemia group (p=0.007). In the prolactinoma group, the median age at presentation in macroadenoma cases (13.8 years) was lower than in microadenoma cases (17 years) (p=0.06). There was a negative correlation between prolactin level and height SDS (r=-0.770, p=0.06). In all cases, the median initial cabergoline dose was 0.5 mg/week, and prolactin levels returned to normal within an average of 2.6±2.4 months. Cabergoline treatment achieved a 50% reduction in adenoma size in the first year of treatment without high doses. Conclusions. Prolactinoma consists of an important group among hyperplolactinemia in children. In our study, prolactinoma was detected in 40.7% of children with hyperplolactinemia, and children with prolonged use (over 4 years) tolerated cabergoline well and prolactin levels normalized without high doses. Follow-up is required for relapse after discontinuing the treatment. [ABSTRACT FROM AUTHOR]
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- 2022
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19. Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
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Savaş-Erdeve, Şenay, primary, Aycan, Zehra, additional, Çetinkaya, Semra, additional, Öztürk, Ayşe Pınar, additional, Baş, Firdevs, additional, Poyrazoğlu, Şükran, additional, Darendeliler, Feyza, additional, Özsu, Elif, additional, Şıklar, Zeynep, additional, Demiral, Meliha, additional, Unal, Edip, additional, Özbek, Mehmet Nuri, additional, Gürbüz, Fatih, additional, Yüksel, Bilgin, additional, Evliyaoğlu, Olcay, additional, Akyürek, Nesibe, additional, and Berberoğlu, Merih, additional
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- 2021
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20. Obese Boys Wıth Low Concentratıons of Hıgh Densıty Lıpoproteın Cholesterol are at Greater Rısk of Hepatosteatosıs
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ÖZSU, Elif
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Fatty liver,childhood,high density lipoprotein,hepatosteatosis,obesity ,Health Care Sciences and Services ,nutritional and metabolic diseases ,Sağlık Bilimleri ve Hizmetleri - Abstract
Purpose: Non-alcoholic fatty liver disease (NAFLD) and associated morbidities have become a public health problem due to a global three-fold increase in incidence among obese children over the last three decades. Although the gold standard for diagnosis of NAFLD is liver biopsy, it is not widely used in children. Imaging techniques, including magnetic resonance and ultrasound, can provide information on liver fat deposition, with variable sensitivity. Therefore, a number of other predictors are being investigated for pediatric screening and diagnostic purposes. The aim of this study was to assess easily measured parameters to prompt further investigation for NAFLD in obese children. Methods: Obese children/adolescents with a Body Mass Index (BMI) percentile >95 were enrolled in the study (n=353). After a 12-hour fast, venous glucose, insulin, cholesterol, triglycerides (TG), high density lipoprotein (HDL), low density lipoprotein (LDL) and uric acid were measured and full blood count was performed in all subjects. The TG/LDL ratio, the AST/platelet ratio index (APRI score) and the Homeostatic Model of Assessment-Insulin Resistance (HOMA-IR) were calculated. All patients underwent abdominal ultrasound examination to assess heaptosteatosis. Results: Of 353 patients, median age 12.5 (range: 6-17.9) years, 210 (59%) patients had US-proven hepatosteatosis. Female gender reduced the risk of steatosis 2.08 fold (p=0.005), one unit increase in HDL reduced the risk of steatosis 1.02 fold (p=0.042) and one unit increase in the BMI led to a 1.11 fold (p=0.002) increase in the risk of steatosis. Conclusion: Gender, BMI and HDL were found to be predictors of steatosis. Male patients with low HDL and high BMI are at greater risk of steatosis and should be carefully examined for the presence of NAFLD.
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- 2020
21. TÜRKİYEDE ÇOCUK VE ERGEN TİP 1 DİYABET KOHORT ÇALIŞMASI İLK YIL SONUÇLARI
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TAŞ, FUNDA FERYAL, PAPATYA ÇAKIR, ESRA DENİZ, YEŞİLTEPE MUTLU, RAHİME GÜL, PARLAK, MESUT, muratoğlu şahin, nursel, ÇETİNKAYA, SEMRA, ünal, edip, ERBAŞ, İBRAHİM MERT, AYCAN, ZEHRA, MENGEN, EDA, DEMİRAL, MELİHA, DENKBOY ÖNGEN, YASEMİN, YILDIRIM, RUKEN, ÖZSU, ELİF, BİNAY, ÇİĞDEM, DİREK, GÜL, AKYÜREK, NESİBE, AŞAN, ÖNDER, YÜKSEL, BİLGİN, EVLİYAOĞLU, OLCAY, nalbant, özlem, KARAKILIÇ ÖZTURAN, ESİN, ANIK, AHMET, KILINÇ, SUNA, EKLİOĞLU, BERAY SELVER, and DÜNDAR, İSMAİL
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- 2019
22. Türkiyede Çocuk ve Ergen Tip 1 Diyabet Kohort Çalışması İlk Yıl Sonuçları
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ERBAŞ, İBRAHİM MERT, AYCAN, ZEHRA, Muratoğlu Şahin, Nursel, Mengen, Eda, ÖZSU, ELİF, BİNAY, ÇİĞDEM, Direk, Gül, Akyürek, Nesibe, Aşan, Önder, YÜKSEL, BİLGİN, Ekioğlu, Beray Selver, TAŞ, FUNDA FERYAL, DÜNDAR, İSMAİL, Papatya Çakır, ESRA dENİZ, YEŞİLTEPE MUTLU, RAHİME GÜL, KILINÇ, SUNA, EVLİYAOĞLU, SAADET OLCAY, KARAKILIÇ ÖZTURAN, ESİN, PARLAK, MESUT, ANIK, AHMET, Nalbant, Özlem, YILDIRIM, RUKEN, DENKBOY ÖNGEN, YASEMİN, Demiral, Meliha, Ünal, Edip, and ÇETİNKAYA, SEMRA
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- 2019
23. A Rare Cause of Sleep-Disordered Breathing: ROHHAD Syndrome
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Özcan, Gizem, primary, Özsu, Elif, additional, Şiklar, Zeynep, additional, and Çobanoğlu, Nazan, additional
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- 2020
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24. A Newborn with Bilateral Breast Enlargement: Neonatal Mastauxe
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Sevinç, Selin, primary, Almus, Eda, additional, Okulu, Emel, additional, Özsu, Elif, additional, Erdeve, Ömer, additional, Atasay, Begüm, additional, and Arsan, Saadet, additional
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- 2020
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25. Rare cause of central hypoventilation: ROHHAD Syndrome
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Özcan, Gizem, primary, Özsu, Elif, additional, Zirek, Fazılcan, additional, and Çobanoğlu, Nazan, additional
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- 2020
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26. Intramuscular Short-term ACTH Test for the Determination of Adrenal Function in Children: Safe, Effective and Reliable
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Özsu, Elif, primary, Şıklar, Zeynep, additional, Bilici, Esra, additional, Ceran, Ayşegül, additional, Uyanık, Rukiye, additional, Çetin, Tuğba, additional, Aycan, Zehra, additional, and Berberoğlu, Merih, additional
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- 2020
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27. Treatment Management with 18F-Fluoro-L-DOPA PET/CT Imaging of Focal Congenital Hyperinsulinemic Hypoglycemia Case
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KIZILCAN ÇETİN, Sirmen, primary, ŞIKLAR, Zeynep, additional, SOYDAL, Çiğdem, additional, ÖZSU, Elif, additional, AYCAN, Zehra, additional, YAĞMURLU, Aydın, additional, UYANIK, Rukiye, additional, BİLİCİ, M. Esra, additional, CERAN, Ayşegül, additional, and BERBEROĞLU, Merih, additional
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- 2020
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28. Fokal Konjenital Hiperinsülinemik Hipoglisemi Olgusunda 18F-Fluoro-L-DOPA PET/BT Görüntülemesi ile Tedavi Yönetimi.
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KIZILCAN ÇETİN, Sirmen, ŞIKLAR, Zeynep, SOYDAL, Çiğdem, ÖZSU, Elif, AYCAN, Zehra, YAĞMURLU, Aydın, UYANIK, Rukiye, BİLİCİ, M. Esra, CERAN, Ayşegül, and BERBEROĞLU, Merih
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POSITRON emission tomography ,COMPUTED tomography ,THERAPEUTICS ,HYPOGLYCEMIA ,PANCREATECTOMY - Abstract
Copyright of Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi is the property of Turkiye Klinikleri 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.)
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- 2020
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29. Relationship between obesity and platelet indices in children
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ÖZSU, Elif, primary and YAZICIOGLU, Bahadır, additional
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- 2018
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30. Distribution of mutations in genes known to be associated with familial idiopathic hypogonadotropic hypogonadism in a large cohort
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KINIK, SİBEL, ÖZEN, SAMİM, gürbüz, fatih, mengen, eda, özsu, elif, tunç, selma, kor, yılmaz, çakır, esra papatya, ABACI, AYHAN, DEMİR, KORCAN, akcay, teoman, kırel, birgül, KOTAN GEDİK, LEMAN DAMLA, uçaktürk, ahmet, and BİDECİ, AYSUN
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- 2015
31. Vitamin D Deficiency in Children and Adolescents with Type 1 Diabetes
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Mutlu, Ajda, Yeşiltepe Mutlu, Gül, Özsu, Elif, Çizmecioğlu, Filiz Mine, and Hatun, Şükrü
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Male ,Adolescent ,Turkey ,type 1 diabetes ,Alkaline Phosphatase ,Vitamin D Deficiency ,Young Adult ,Cross-Sectional Studies ,Diabetes Mellitus, Type 1 ,children and adolescents ,Parathyroid Hormone ,Child, Preschool ,Prevalence ,Humans ,Original Article ,Female ,Prospective Studies ,Seasons ,Vitamin D ,Child - Abstract
Objective: To investigate the frequency and effects of vitamin D deficiency in children with type 1 diabetes (T1D) in a region which is known to have a high rate of vitamin D deficiency among adolescents. Methods: In this prospective cross-sectional study, 120 children and adolescents with T1D (55 girls and 65 boys) aged 3-20 years were evaluated. Serum 25-hydroxyvitamin D [25(OH)D], parathormone (PTH), and alkaline phosphatase (ALP) levels were measured. Hemoglobin A1c levels and daily insulin requirement were also evaluated. Classification of vitamin D status was made according to the American Academy of Pediatrics (AAP)/LWEPS’s recommendations. The patients were divided into 2 groups according to their vitamin D status and also according to the season of the year in which 25(OH)D sampling was done. Results: Serum 25(OH)D levels revealed vitamin D deficiency or insufficiency in 38% of the patients. Higher PTH levels were found in the patient group whose mean 25(OH)D level was 20 ng/mL (p
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- 2011
32. Subclinical Left Ventricular Longitudinal and Radial Systolic Dysfunction in Children and Adolescents with Type 1 Diabetes Mellitus
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Altun, Gürkan, primary, Babaoğlu, Kadir, additional, Binnetoğlu, Köksal, additional, Özsu, Elif, additional, Yeşiltepe Mutlu, Rahime G., additional, and Hatun, Şükrü, additional
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- 2016
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33. İzlenmekte olan diyabetli hastalarımız arasında monogenetik diyabet için genetik analize aday hasta seçimi
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Özsu, Elif, Çizmecioğlu, Filiz Mine, and Çocuk Sağlığı ve Hastalıkları Anabilim Dalı
- Subjects
Endocrinology and Metabolic Diseases ,Endokrinoloji ve Metabolizma Hastalıkları - Abstract
Amaç: Kliniğimizde diyabet tanısıyla izlenmekte olan hastalar arasında klinik ve laboratuvar olarak MODY şüphesi yüksek olan olguların genetik analiz için aday olarak belirlenmesi, rezervi olan Tip 1DM'li vakaların belirlenmesinde idrar cpeptit/ kreatin oranının kullanılması (UCPCR) ve diyabetli olgularımız arasında MODY sıklığını saptamak, ülkemiz şartlarında MODY Probabilty Calculator (MPC) modelinin kullanılabilirliğini göstermek amacıyla planlanmıştır.Gereç ve yöntem: Çalışmaya, Kocaeli Üniversitesi Pediyatrik Endokrinoloji ve Diyabet polikliniğinden takipli, hiperglisemi tanısı ve sınıflandırılması ISPAD (International Society for Pediatric and Adolescent Diabetes) 2011 konsensusuna göre yapılıp diyabet tanısı almış hastalar dahil edildi (n 640). Toplam 640 olgu içerisinden 232 diyabetli çocuk ve ergen çalışma grubumuzu oluşturdu; Klinik olarak tip 2 DM tanısıyla izlenmekte olan olgular (n:11), MODY ön tanısıyla izlenmekte olan (n:39) ve tipik tip 1 DM olmayan (n:30) diyabetli çocuk ve adölesanların yanı sıra tipik Tip 1DM semptomları gösteren ve Tip 1 DM tanısıyla izlenmekte olan 152 olgu çalışmaya dahil edildi. Tip 1 DM'li vakalardan 3 yılı geçtiği halde rezerv insülini olan (n 25) vaka ve yukarıda sayılan diğer 3 grup çalışma kapsamında değerlendirildi.Bulgular: Çalışmaya dahil edilen gruplar; (rezervi olan Tip1 DM n 25, Tip 2 DM n11 ve sınıflandırılmayan n 30, olası MODY n 39 ile) arasında yapılan istatistiksel değerlendirmede vakaların tanı anındaki kan şekeri, tanı HbA1c ve tanı C peptit düzeyleri arasında istatistiksel anlamlı fark saptandı (p40) puanı ile UCPCR(≥0,2nmol/mmol) birlikte kullanıldığında vakaların %94 duyarlılık ve %90 özgüllüklü seçilebileceğini saptadık. MODY olabilecek vakaların belirlenmesinde tanı yılından bağımsız UCPCR≥ 0,58nmol/mmol alındığında ise %80duyarlılık ve %80 özgüllükle vakaların MODY olabileceğini öngördük. Ancak MPC de olduğu gibi altın standart olan genetik analiz ile tanılar kesinleşmediği için bu değeri de cut off olarak kullanamadık Gruplar arasında HsCRP değerleri arasında fark saptanmaz iken (p=0,67) özellikle Tip 2DM ile MODY ayırımında kullanılabilecek bir belirteç olarak değerlendirdik (p=0,02).Özellikle rezervi olan 25 vaka kendi içinde değerlendirildiğinde hastaların 3 tanesinde MPC≥40 ve 3 tanesinde insülin ihtiyacı 0,5U/kg/g saptandı. Bu vakaların kadarı DKA ile başvurmuş ve kadarında da devam eden otoimmun süreç göstergeleri pozitifti. Son konsensuslarda 3 yılı geçtiği halde rezervi olan vakaların genetik analize yönlendirilmeleri önerilmiş olup klinik ve biyokimyasal olarak MODY düşünülmese de bu vakalar genetiğe aday hastalar olmalıdır.Sonuç: Çalışmamızda ister Tip1 ister tip 2 DM tanısıyla izlensin ya da belli bir diyabet sınıfına sokulamasın, hastalar hekimde klinik şüphe oluşturuyorlar ise tahmin edilenden daha sık görülen MODY açısından (tipik klinik özellikleri karşılamasa da ) değerlendirilip genetik analize aday hasta olarak seçilmelidirler sonucu çıkmıştır. Bu seçimde rezerv insülin varlığı tip 1 DM'li vakalarda oldukça önemli bir belirteçtir. Maturity Onset Diabetes of the Young represents as a rare cause of diabetes, commonly misdiagnosed as Type 1 or Type 2 Diabetes and some patients are treated with insulin incorrectly. Common reason for misdiagnosis are in physician's awareness and restirictions in performing genetic testing because genetic testing is expensive and not widely used so when determining which patient should be tested is required careful consideration. Although when patients are refered to genetic laboratuary, 50% of whom diagnosed as MODY. Physician's might select patients for analyses with medical diagnostic desicions models, having particular condition based on their clinical characteristics. This model should be inexpensive, noninvasive and easy to apply for objective determining patients. In this study we aimed to determining probable MODY candidates and to send genetic screning. For this puropose we have used values of MPC, UCPCR and HsCRP for select more properly and we aimed to predict the effectiveness of criterias In our study, 232 out of 640 patients diagnosed according to ISPAD consensus 2011 were selected from Kocaeli University Pediatric Endocrinology Department (all diabetic cases n 640). Patients with Type 2 diabetes diagnosed clinically and supported ADA (n:11), suspected MODY patients (n:39) and unlike the cases of both Type 1or 2 DM clinically (n 30) and also patients clincally labelled type 1 diabetes were evaluated which diagnose duration over 3 years to find (n 152). From 152 patients 25 subject had significant residual of beta cell function. Patients were divided 4 groups.Groups were compared for MPC ve UCPCR in Type 1 DM with reserv mean MPC 11 ±20, UCPCR 0,7 ±0,68nmol/mmol, in type 2 DM MPC 40 ±36 UCPCR 2,1±1,5nmol/mmol and non type1-2 group mean MPC 32± 32 UCPCR 1,5±1,9nmol/mmol and in suspected MODY group mean MPC 70 ±16 UCPCR 1,6 ±1,4 nmol/mmol were detected respectively. MPC ve UCPCR values had significantly different in groups but HsCRP values had no significantly different for each groups. In clinically labeled type 1 patients were divided according to beta cell function and serum stimulated C peptide, MPC and UCPCR values significantly high in group with residual beta cell function. Strong family history for diabetes in 40%, MPC were over 40 score in 12% and insulin requirement were under 0,5U/kg/g in 12% also DKA were seen in 40% patients with resereve at diagnosis. We propesed that all patients with C-peptide positive diabetes, 3 years after diagnose for those asssume type 1 DM, should be considered to send analyses for MODY. We recommended to use UCPCR to detect patients with beta cell function. When MPC and UCPCR used together power of determining will be increased but clinic suspicion is still valuable to select MODY patients altough without all diagnostic criteria. 110
- Published
- 2013
34. Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
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Özsu, Elif, primary, Yeşiltepe Mutlu, Rahime Gül, additional, Işık, Olcay, additional, Çizmecioğlu, Filiz Mine, additional, and Hatun, Şükrü, additional
- Published
- 2014
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35. Metabolic Bone Disease of Prematurity: Report of Four Cases
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Yeşiltepe Mutlu, Gül, primary, Kırmızıbekmez, Heves, additional, Özsu, Elif, additional, Er, İlkay, additional, and Hatun, Şükrü, additional
- Published
- 2014
- Full Text
- View/download PDF
36. Ring Chromosome 13 and Ambiguous Genitalia
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Özsu, Elif, primary, Yeşiltepe Mutlu, Gül, additional, and İpekçi, Belkıs, additional
- Published
- 2014
- Full Text
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37. Features of Two Cases with 18q Deletion Syndrome
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Özsu, Elif, primary, Yeşiltepe Mutlu, Gül, additional, Yüksel, Ayşegül Büte, additional, and Hatun, Şükrü, additional
- Published
- 2014
- Full Text
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38. Hashimoto tiroiditli hastalarımızın özellikleri
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Özsu, Elif, primary, Yeşiltepe Mutlu, Rahime Gül, additional, Çizmeci, Filiz, additional, and Hatun, Şükrü, additional
- Published
- 2011
- Full Text
- View/download PDF
39. Şişman çocuklarda hafif TSH yüksekliği: Nasıl bir sorun?
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Yeşiltepe Mutlu, R. Gül, primary, Özsu, Elif, additional, Çizmecioğlu, Filiz Mine, additional, and Hatun, Şükrü, additional
- Published
- 2011
- Full Text
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40. The Mascular Distrophy Cases with Different Clinical Symptoms and Coincidental Elevated Transaminase Levels
- Author
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Apa, Hurşit, primary, Kayserili, Ertan, additional, Hızarcıoğlu, Murat, additional, Gülez, Pamir, additional, Özsu, Elif, additional, Uran, Nedret, additional, and Diniz, Ayşe Gülden, additional
- Published
- 2007
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41. McCune Albright syndrome in association with excessive GH secretion: case report.
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Özsu, Elif, Mutlu, Gül Yeşiltepe, Çizmecioğlu, Filiz Mine, and Hatun, Şükrü
- Subjects
- *
ACROMEGALY , *FIBROUS dysplasia of bone , *GLUCOSE tolerance tests , *PITUITARY diseases , *PROLACTIN , *HUMAN growth hormone , *CAFE-au-Lait spots (Disease) , *DISEASE complications - Abstract
McCune-Albright Syndrome is a rare syndrome characterized with excessive function of peripheral endocrine organs and activating mutations of the stimulatory G protein alpha subunit are involved in the pathogenesis. The three main findings of the disease include hyperpigmented café au lait spots, fibrous dysplasia and increased endocrine functions and excessive secretion of growth hormone is observed in 21% of the patients. Clinical signs may be missed in these patients because of precocious puberty and craniofacial fibrous dysplasia. Since radiotherapy causes to sarcomatous changes and transsphenoidal surgery may cause to severe thickening in the cranial bones, they are not appropriate treatment options and medical treatment is recommended. Bromocriptine, cabergoline and octreotide or different combinations of these drugs are used in treatment and pegvisomant has also been used in recent years. Here, we present a male patient aged 12 years and 7 months to show gigantism as a rare clinical reflection of McCune-Albright Syndrome with an excessive height (197 cm), café au lait spots, growht hormone levels which could not be supressed with oral glucose tolerance test and increased prolactin levels. (Turk Pediatri Ars 2015; 50: 114-7) [ABSTRACT FROM AUTHOR]
- Published
- 2015
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42. A new insight into food addiction in childhood obesity.
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Keser, Alev, Yüksel, Ayşegül, Yeşiltepe-Mutlu, Gül, Bayhan, Asuman, Özsu, Elif, and Hatun, Şükrü
- Abstract
Uncontrolled eating behavior in obese subjects is very similar to behavior in food addiction, suggesting a relationship. This study was designed to evaluate the relationship between childhood obesity and food addiction and to determine the frequency of food addiction among obese children and adolescents. The study included 100 overweight and obese children. Food addiction was evaluated by the Yale Food Addiction Scale (YFAS). The cutoff value for food addiction was defined as the presence of 3 or more symptoms. Participants were between 10 and 18 years of age; 63% were girls. Of the participants, 71% had food addiction. The most addictive foods were chocolate, ice cream, carbonated beverages, French fries, white bread, rice, candy, chips and pasta, in decreasing order of frequency. Experiencing a frequent feeling of hunger was associated with a 2.2-fold increase in food addiction risk, while consumption of French fries =1-2 times per week was associated with a 2.3-fold increase in risk (p<0.05). The high YFAS scores in obese and overweight adolescents suggest that food addiction plays an important role in childhood obesity. Evaluation of food addiction in more detail may open a new perspective on the prevention and treatment of obesity. [ABSTRACT FROM AUTHOR]
- Published
- 2015
43. Metabolic Bone Disease of Prematurity: Report of Four Cases.
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Mutlu, Gül Yeşiltepe, Kırmızıbekmez, Heves, Özsu, Elif, Er, İlkay, and Hatun, Şükrü
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PEDIATRIC endocrinology ,OSTEOPENIA ,BONE diseases ,PREMATURE infant diseases ,LOW birth weight ,NEWBORN infant care - Abstract
Osteopenia of prematurity has become a common problem recently because of improved survival rates of infants with very low birth weight (VLBW). The incidence of neonatal osteopenia is inversely correlated with gestational age and birth weight. Herein, we present four cases of preterm osteopenia that were referred to the pediatric endocrinology outpatient clinic with diverse clinical and laboratory findings and we discuss the clinical course of these infants with regard to bone disease after discharge from the neonatal intensive care unit (NICU). This report highlights the importance of enteral calcium, phosphorus and vitamin D support at adequate doses following discharge from NICU for preterm infants with VLBW who are at risk of metabolic bone disease. [ABSTRACT FROM AUTHOR]
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- 2014
- Full Text
- View/download PDF
44. Can HbA1c and One-Hour Glucose Concentration in Standard OGTT Be Used for Evaluation of Glucose Homeostasis in Childhood.
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Mutlu, Gül Yeşiltepe, Özsu, Elif, Çizmecioğlu, Filiz Mine, and Hatun, Şükrü
- Subjects
- *
GLYCOSYLATED hemoglobin , *PEDIATRIC research , *JUVENILE diseases , *CHILDHOOD obesity , *GLUCOSE tolerance tests , *TYPE 2 diabetes - Abstract
Objective: To investigate whether glycosylated hemoglobin (HbA1c) and 1-hour glucose level in oral glucose tolerance test (OGTT) are useful parameters for evaluation of glucose homeostasis in childhood. Methods: The medical records of 106 obese/overweight children aged from 7 to 18 years who underwent OGTT were evaluated retrospectively. The subjects were divided into 2 groups according to their one-hour glucose concentration. Group 1 consisted of subjects whose one-hour glucose level was <155 mg/dL, and Group 2 consisted of subjects whose one-hour glucose level was ⩾155 mg/dL. The fasting and 2-hour glucose concentrations of the groups were compared. The sensitivity and specificity levels were determined using the ROC curve to assess the predictive value of HbA1c for impaired glucose tolerance (IGT). Results: The mean 2-hour glucose concentration of the subjects in Group 2 was significantly higher than that of the subjects in Group 1 (137.8±35.5 mg/dL versus 113.1±21.2 mg/dL, p<0.05). If a 5.5% cut-off value for HbA1c was accepted as predictor of IGT, the sensitivity was 63% and specificity was 70%. 31% of the subjects with HbA1c levels at or above 5.5% had IGT. This rate was significantly lower in subjects who had HbA1c levels below 5.5% (p<0.05). Conclusions: Obese/overweight children and adolescents whose 1-hour glucose level is ⩾155 mg/dL in the standard OGTT carry a high risk for IGT. Obese/overweight children and adolescents whose HbA1c level is at or above 5.5% may have IGT even though their fasting glucose level is normal, thus, OGTT is necessary to evaluate the glucose tolerance. [ABSTRACT FROM AUTHOR]
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- 2013
- Full Text
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45. Congenital hypothyroidism screening program in Turkey: a local evaluation.
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Kuşdal, Yusuf, Yeşiltepe-Mutlu, Gül, Özsu, Elif, Çizmecioğlu, Filiz Mine, and Hatun, Şükrü
- Abstract
It was aimed to evaluate the national congenital hypothyroidism program in terms of thyroid-stimulating hormone (TSH) cut-off level, frequency of cases that required treatment and the stages before treatment in the Kocaeli district area. This research was performed with the contribution of Kocaeli University Medical Faculty, Pediatric Endocrinology Department, and the Kocaeli Local Health District. 25,188 babies born in 2009 were evaluated. The previous laboratory data including heel prick samples and venous thyroid function tests (TSH, free/total T4 levels) of babies requiring investigation were evaluated retrospectively. 49,785 heel prick blood samples were collected from 25,188 babies born in our region. TSH levels of 3,355 babies in the first sampling were greater than the cut-off level (15 mIU/L) (recall rate was 13.3%). Venous sampling was required for 107 babies, and 39 of them needed to be treated (treatment rate was 1/645). Eleven of the babies who were treated were diagnosed with thyroid dysgenesis. Families of the babies who needed further venous sampling were given final results in an average of 28.5 days after the first heel sampling. We concluded that the recall rate is high, but raising the cut-off level for TSH may lead to overlooking the diagnosis of thyroid dysgenesis. The duration for providing final results to the families is quite long. It is necessary to take venous blood samples in the pediatric endocrinology units to reduce this duration. [ABSTRACT FROM AUTHOR]
- Published
- 2012
46. Maternal D vitamini eksikliğine bağli hipokalsemik nöbet: nasil önlenebilir?
- Author
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Yeşiltepe-Mutlu, Gül, Özsu, Elif, Oruç, Meral, Çizmecioğlu, Filiz Mine, and Hatun, Şükrü
- Subjects
- *
VITAMIN D deficiency , *SPASMS , *HYPOCALCEMIA , *GENETIC disorders , *PARATHYROID hormone , *PREGNANCY , *PREVENTION - Abstract
Vitamin D deficiency and rickets remain important for the evaluation of neonatal and infantile hypocalcemia; however, physicians sometimes experience difficulties in the differential diagnosis. Vitamin D deficiency can present with hypocalcemia and sometimes hyperphosphatemia due to the inadequate response of parathyroid hormone (PTH) to hypocalcemia during the neonatal period. Herein, a case who was admitted with seizure (hypocalcemic) at 8 days of age and diagnosed as congenital rickets is reported. Vitamin D deficiency should be considered primarily in the differential diagnosis of neonatal hypocalcemia, particularly in those areas where maternal vitamin D deficiency is common. Hypocalcemia due to congenital rickets can be prevented with adequate vitamin D supplementation during pregnancy. [ABSTRACT FROM AUTHOR]
- Published
- 2011
47. Şişman çocuklarda hafif TSH yüksekliği: Nasıl bir sorun?
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Mutlu, R. Gül Yeşiltepe, Özsu, Elif, Çizmecioğlu, Filiz Mine, and Hatun, Şükrü
- Subjects
- *
THYROID diseases , *BLOOD sugar , *COMPUTER software , *STATISTICAL correlation , *INSULIN , *OBESITY , *THYROTROPIN , *DATA analysis , *BODY mass index , *RETROSPECTIVE studies , *CHILDREN , *DISEASE risk factors - Abstract
Aim: To determine the effects of obesity on thyroid functions in children Material and Method: The records of 132 patients who were followed up in our Pediatric Endocrinology and Diabetes Division with the diagnosis of obesity from March 2006 to May 2009, were investigated retrospectively. Anthropometric measurements, serum lipid profiles, thyroid hormone levels, fasting blood glucose and insulin levels were evaluated. TSH levels of patients whose HOMA-IR <3.16 and HOMA-IR >3.16 were compared. Correlation between TSH levels and HOMA-IR, BMİ (body mass index) was investigated. Statistical evaluation was done using SPSS 13.0 statistical program. For comparasion of independent groups chi-square and for correlation analysis "Pearson method" were used. p<0.05 was accepted as significant. Results: Seventeen patients' (12.9%) TSH levels were above 97.5 persentile, fifty one patients' (38.7%) TSH levels were above 90 persentile. None of the patients whose TSH levels were above 97.5 persentile, has low free/ total T4 levels. There was no significant difference in the TSH levels, when the patients whose HOMA-IR <3.16 and HOMA-IR >3.16 were compared. There was an insignificant, positive, weak correlation between TSH levels and HOMA-IR, BMI. Conclusions: TSH levels of obese children may be elevated without any change in the peripheral thyroid hormone levels. This situation should not be evaluated as hypothyroidism and not be started L- throxine treatment in the first examination. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
- View/download PDF
48. Genetic Analysis in Our Cases with Thyroid Dysgenesis.
- Author
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Özsu, Elif, Çizmecioğlu, Filiz Mine, Mutlu, Gül Yeşiltepe, Yüksel, Ayşegül, Narumi Sotoshi, and Hatun, Şükrü
- Subjects
- *
THYROID gland function tests , *GENETIC polymorphisms , *GENETIC mutation - Abstract
An abstract of the article "Genetic Analysis in Our Cases with Thyroid Dysgenesis," by Elif Özsu and colleagues is presented.
- Published
- 2015
49. HADH Mutation is a Rare Cause of Hyperinsulinaemic Hypoglycaemia.
- Author
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Özsu, Elif, Mutlu, Gül Yeşiltepe, Çizmecioğluğlu, Filiz Mine, and Hatun, şükrü
- Subjects
- *
HYPOGLYCEMIA , *BLOOD sugar , *AMMONIA , *GLUCOSE , *PEDIATRIC endocrinology - Abstract
The article presents a case study of a patient diagnosed with hyperinsulinemia at the age of 40 days. The patient has abnormal glucose and insulin level and ammonia level which led to diagnosis of hyperinsulinaemic hypoglycaemia (HH). The article also recommends genetic analysis of HADH gene patients with diazoxide-responsive HH from consanguineous families.
- Published
- 2015
50. Maturity onset diabetes of the young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A mutations in a cohort of Turkish children diagnosed as type 1 diabetes mellitus
- Author
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Ahmet Yesilyurt, Gül Yeşiltepe Mutlu, Aysegul Yuksel, Mursel Calıskan, Filiz Mine Çizmecioğlu, Şükrü Hatun, Elif Ozsu, Mutlu, Gül Yeşiltepe, Hatun, Şükrü (ORCID 0000-0003-1633-9570 & YÖK ID 153504), Özsu, Elif, Çizmecioğlu, Filiz Mine, Yüksel, Ayşegül Büte, Çalışkan, Mürsel, Yeşilyurt, Ahmet, School of Medicine, and Department of Pediatrics Endocrinology
- Subjects
Male ,medicine.medical_specialty ,endocrine system ,Adolescent ,Turkey ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Medicine ,Endocrinology and metabolism ,Pediatrics ,030204 cardiovascular system & hematology ,Gastroenterology ,Maturity onset diabetes of the young ,Childhood ,Monogenic diabetes ,Type 1 diabetes ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Internal medicine ,Glucokinase ,medicine ,Humans ,Hepatocyte Nuclear Factor 1-alpha ,Child ,Genetic testing ,Hepatocyte Nuclear Factor 1-beta ,medicine.diagnostic_test ,business.industry ,medicine.disease ,HNF1B ,HNF1A ,Hepatocyte nuclear factors ,Diabetes Mellitus, Type 1 ,Diabetes Mellitus, Type 2 ,Hepatocyte Nuclear Factor 4 ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Cohort ,Mutation ,Female ,business - Abstract
Background/aims: maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing. Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Those with a UCPCR ≥0.2 nmol/mmol were selected for genetic analysis of the Glucokinase (GCK), Hepatocyte nuclear factor 1a (HNF1A), Hepatocyte nuclear factor 4a (HNF4A), and Hepatocyte nuclear factor 1b (HNF1B) genes. This UCPCR cut-off was used because of the reported high sensitivity and specificity. Cases were also evaluated using a MODY probability calculator. Results: twenty-three patients from 152 participants (15.1%) had a UCPCR indicating persistent insulin reserve. The mean age ± SD of the patients was 13.6 ± 3.6 years (range 8.30-21.6). Of these 23, two (8.7%) were found to have a mutation, one with HNF4A and one with HNF1B mutation. No mutations were detected in the GCK or HNF1A genes. Conclusion: in Turkish children with a diagnosis of T1D but who have persistent insulin reserve 3 years after diagnosis, up to 9% may have a genetic mutation indicating a diagnosis of MODY., NA
- Published
- 2019
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