hrp0082p1-d1-61 | Diabetes | ESPE2014

Evaluation of S-100B, Antioxidant and Oxidative Capacity Before and After the Treatment in Children with Diabetic Ketoacidosis

Kaya Cemil , Atas Ali , Aksoy Nurten

Background: Diabetic ketoacidosis is a serious condition with high rates of morbidity and mortality in children with type 1 diabetes mellitus. Calcium-binding protein S100B is a cell damage marker glycopeptide that is mainly produced by astrocytes. Oxidative stress might be defined as an imbalance between anti-oxidative defense of the body and free radical production responsible for peroxidation of lipid layer of cell walls.Objective and hypotheses: In p...

hrp0082p2-d3-312 | Bone (2) | ESPE2014

Severe Osteogenesis Imperfecta and Epidermolysis Bullosa Simplex Caused by FKBP10 Mutation: New Case

Guven Ayla , Kavala Mukaddes , Akarsu A Nurten

Background: Mutations in genes encoding type 1 procollagen (T1PC) and proteins responsible for posttranslational modifications of the T1PC heterodimer may result in brittle bone disorder osteogenesis imperfecta (OI). FKBP65 is a known chaperone for type I procollagen and encoded by FKBP10. Autosomal-recessively inherited epidermolysis bullosa simplex and moderately severe OI caused by FKBP10 mutation reported in consanguineous Turkish and Mexican families.</p...

hrp0084p2-265 | Diabetes | ESPE2015

Importance of Thrombocyte Volume Parameters in Type 1 Diabetes Mellitus Patients with and without Clinical Findings of Diabetic Ketoacidosis

Vuralli Dogus , Aksoy Hatice Tatar , Yilmaz Arzu , Engiz Ozlem , Dallar Yildiz Bilge

Background: Thrombocyte volume parameters such as mean thrombocyte volume (MPV) and PDW (thrombocyte distribution volume) are parameters used in evaluation of thrombocyte size which have hemostatic importance. The increased thrombocyte volume is a marker of thrombocyte activation. The thrombocyte activity is important in pathophysiology of diseases with a tendency of thrombosis and inflammation. In adult studies it has been reported that MPV increases in thrombotic diseases su...

hrp0086p1-p109 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

Abali Saygin , Arman Ahmet , Atay Zeynep , Bas Serpil , Cam Sevda , Gormez Zeliha , Demirci Huseyin , Alanay Yasemin , Akarsu Nurten , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

hrp0086p1-p131 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

Abali Saygin , Arman Ahmet , Atay Zeynep , Bereket Abdullah , Bas Serpil , Haliloglu Belma , Guran Tulay , Gormez Zeliha , Demirci Huseyin , Akarsu Nurten , Turan Serap

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of brittle bone disease mostly caused by quantative or qualitative defects in type I collagen. In most populations, more than 90% of the patients with OI have dominant mutations in COL1A1 or COL1A2 genes (AD-OI). Less than 10% of the cases have recessive inheritance (AR-OI). Currently 12 genes have been identified as a cause of AR-OI.Objective and hypotheses: We assumed h...

hrp0092p1-142 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Disorders of Sex Development (DSD): Inconsistencies Between Clinical Features and Peripheral Blood Cultured Karyotypes

Gurtunca Nursen , Yatsenko Svetlana , Schneck Francis , Witchel Selma Feldman

Sex differentiation and development are complex processes reflecting the precise spatiotemporal expression of specific genes and interactions among gene products. In some instances, peripheral blood karyotype diverges from anticipated findings based on phenotypic features. Ascertaining for chromosomal mosaicism aids the shared decision-making discussions with families and other health care providers. We have investigated for sex chromosome mosaicism in 13 patients by using flu...