Gulay Can Yilmaz

Role of Point Shear Wave Elastography in the Determination of the Severity of Fibrosis in Pediatric Liver Diseases With Pathologic Correlations

Our aims in this study were as follows: (1) to determine the cutoff value that can distinguish between advanced liver fibrosis and normal liver tissue for two different elastographic techniques; (2) to determine the cutoff value that can distinguish mild liver fibrosis from normal liver tissue for the techniques; and (3) to assess tissue stiffness in nonalcoholic fatty liver disease (NAFLD).

Efficacy and safety of pamidronate in children with vitamin D intoxication.

Bisphosphonates are used in the treatment of vitamin D intoxication (VDI) after failure of conventional therapy including prednisolone. Safety concerns restrict the use of bisphosphonates from being used as first‐line therapy for VDI in children. The aim of this study was to evaluate the efficacy and safety of pamidronate in comparison with prednisolone in children with VDI.

Does Type 1 Diabetes Mellitus Affect the Shear Wave Velocity of the Thyroid Gland of Children Without Autoimmune Thyroiditis

Objective The aim of this study is to evaluate the shear wave velocity (SWV) of the thyroid gland with acoustic radiation force impulse elastography in children with type 1 diabetes mellitus (T1D). Materials and Methods Between November 2015 and April 2016, 35 T1D patients who were referred to our hospitals endocrinology outpatient clinic (mean age, 11.88 ± 4.1 years) and 30 children (mean age, 11.3 ± 3.08 years) in the control group were enrolled in the study. Five acoustic radiation force impulse elastography measurements from each lobe of the thyroid gland in m/s were recorded. Diabetes age, hemoglobin A1c, and C-peptide levels were recorded in T1D patients. Statistical analyses were performed using SPSS version 21 (IBM Corporation, Armonk, NY). Results The mean SWV of the thyroid gland in T1D patients and the control group was 1.11 ± 0.21 and 1.29 ± 0.23 m/s, respectively. The mean SWV of the thyroid gland in T1D patients was lower than that in the control group and this was significant (P = 0.002). The mean SWV of the thyroid gland was not correlated with hemoglobin A1c level, body mass index, or the insulin dose in T1D patients. Conclusions The present study showed that T1D affects the thyroid gland stiffness even in patients without autoimmune thyroiditis. Acoustic radiation force impulse elastography may be a useful method in determining early changes in thyroid gland in T1D and may be used as a screening tool.

Acoustic Radiation Force Impulse Elastography in Determining the Effects of Type 1 Diabetes on Pancreas and Kidney Elasticity in Children

OBJECTIVE The aim of this study is to determine the effects of type 1 diabetes on pancreas and kidney elasticity in children, using acoustic radiation force impulse ultrasound elastography. SUBJECTS AND METHODS Sixty autoantibody-positive patients with type 1 diabetes (45% girls; mean [± SD] age, 11.7 ± 4.4 years; range, 1.9-19.3 years) admitted to the pediatric endocrinology outpatient clinic and 32 healthy children (50% girls; mean age, 10.2 ± 3.8 years; range, 2.1-17.3 years) were included in the study. Acoustic radiation force impulse elastography measurements were performed of the kidneys and pancreas in both groups. Body mass index, duration of diabetes, HbA1c levels, and insulin dosage of patients with type 1 diabetes were recorded. RESULTS The mean shear-wave velocities of the pancreas were 0.99 ± 0.25 m/s in patients with type 1 diabetes and 1.09 ± 0.22 m/s in healthy control subjects; the difference was not significant (p = 0.08). The median shear-wave velocities of the right and left kidneys in patients with type 1 diabetes were 2.43 ± 0.29 and 2.47 ± 0.25 m/s, respectively. There were no significant differences in the shear-wave velocities of the right and left kidneys between the patients with type 1 diabetes and the healthy control subjects (p = 0.91 and p = 0.73, respectively). Correlation analysis showed no correlation between the shear-wave velocities of the pancreas and kidney versus HbA1c level, duration of diabetes, insulin dosage, height, weight, and body mass index of the patients with type 1 diabetes. CONCLUSION The current study showed no significant difference in the shear-wave velocity of kidneys in children with type 1 diabetes with normoalbuminuria compared with the healthy control subjects. We also observed that the shear-wave velocity of the pancreas in children with type 1 diabetes and healthy control subjects did not differ significantly.

The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study.

Objective: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment. Methods: Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated. Height increment of patients with or without GH treatment were analyzed after three years of therapy. Results: A total of 124 NS patients from different centers were entered in the web-based system. Short stature and typical face appearance were the most frequently encountered diagnostic features of our patients. Of the 84 patients who were followed long-term, 47 hadreceived recombinant human GH (rhGH). In this group of 47 patients, height standard deviation score (HSDS) increased from -3.62±1.14 to -2.85±0.96 after three years of therapy, indicating significant differences from the patients who did not receive GH treatment. PTPN11 gene was analyzed in 61 patients, and 64% of these patients were found to have a mutation. HSDS at admission was similar in patients with or without PTPN11 gene mutation. Conclusion: A diagnosis of NS should be kept in mind in all patients with short stature showing systemic clinical findings. GH therapy is effective for improvement of short stature especially in the first two years of treatment. Further studies are needed for optimisation of GH therapy and evaluation of final height data in NS patients.

Acoustic Radiation Force Impulse Quantification in the Evaluation of Thyroid Elasticity in Pediatric Patients With Hashimoto Thyroiditis

To evaluate the parenchymal elasticity of the thyroid gland with acoustic radiation force impulse imaging in pediatric patients with Hashimoto thyroiditis and to compare it with healthy volunteers.

Transient Neonatal Diabetes with Fanconi Bickel Syndrome

Fanconi- Bickel Syndrome (FBS) is a rare glycogen storage disease (GSD) . Transient diabetes is rarely reported with FBS. We describe a patient with FBS diagnosed by diabetes findings and identification of a mutation in the GLUT2. A male infant, from a consanguineous marriage, presented with hyperglycemia and urinary system infections at 59 days and was given insulin therapy. At age 3 months, insulin was discontinued. Neonatal diabetes may be a first presentation of infants with FBS.

Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height

Abstract Background: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. Methods: This multicenter, nationwide web-based study collected data. Results: The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. Conclusions: The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.BACKGROUND The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. METHODS This multicenter, nationwide web-based study collected data. RESULTS The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. CONCLUSIONS The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.