Browsing by Author "Bundak, Ruveyde"

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    Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study
    (Elsevier, 2016-04-21) Hatun, Şükrü; Demirbilek, Hüseyin; Darcan, Şükran; Yüksel, Ayşegül; Binay, Çiğdem; Şimşek, Damla Gökşen; Kara, Cengiz; Çetinkaya, Ergün; Ünüvar, Tolga; Uçaktürk, Ahmet; Tütüncüler, Filiz; Cesur, Yaşar; Bundak, Ruveyde; Şimşek, Enver; Bereket, Abdullah; Sağlam, Halil; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; 0000-0003-0710-5422; C-7392-2019; 35612700100
    Aims: To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey. Methods: Study included 498 patients with T1DM between the ages 1-18. Data provided from patients' hospital files were recorded on standard case report forms by applicant clinicians within the 3 months of data collection period between October 2012 and July 2013. Results: Mean age of patients was 11.3 +/- 3.8 years. Mean duration of DM was determined as 3.7 +/- 3.1 years. Majority of patients (85.5%) used basal/bolus injection (BBI), and 6.5% used continuous subcutaneous insulin infusion pump. Assessment of glycemic control based on HbA1c levels showed that 29.1% of patients had an HbA1c value <7.5% (58 mmol/mol), 16.1% had a value between 7.5% (58 mmol/mol) and 8% (64 mmol/mol), 19.1% had a value between 8.1% (64 mmol/mol) and 9%(75 mmol/mol) and 35.7% a value >9%(75 mmol/mol). Hypoglycemia was reported in 145 (29.1%) patients and the number of severe hypoglycemic attacks in the last 3 months was 1.0 +/- 2.4. Taking into consideration the carbohydrate count and insulin correction dose and parents with high socioeconomic status was related to have better glycemic control. The most common comorbidities were Hashimoto's thyroiditis/hypothyroidism (6.2%) followed by celiac disease (3.8%), epilepsy(1.2%), and asthma(1.0%). Conclusions: BBI insulin therapy is widely used among pediatric T1DM patients in Turkey. However, despite improvements in treatment facilities and diabetic care, glycemic control is not at a satisfactory level. Therefore, new and comprehensive initiatives require for pediatric T1DM patients with poor glycemic control. Promoting use of carbohydrate count and insulin correction doses may improve the glycemic control of pediatric T1DM in Turkey.
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    Identification of a novel de novo COMP gene variant as a likely cause of Pseudoachondroplasia
    (Lippincott Williams & Wilkins, 2021-08-01) Tuncel, Gülten; Akcan, Neşe; Gül, Şeref; Sağ, Şebnem Ö.; Bundak, Ruveyde; Mocan, Gamze; Temel, Şehime G.; Ergoren, Mahmut C.; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji Ve Embriyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Bölümü.; 0000-0002-9802-0880; AAH-8355-2021; AAG-8385-2021
    Next-generation sequencing technology and advanced sequence analysis techniques are markedly speeding up the identification of gene variants causing rare genetic diseases. Pseudoachondroplasia (PSACH, MIM 177170) is a rare disease inherited in an autosomal dominant manner. It is known that variations in the cartilage oligomeric matrix protein (COMP) gene are associated with the disease. Here, we report a 39-month-old boy with short stature. He gave visible growth and development delayed phenotype after 12 months. Further genetic resequencing analysis was carried out to identified the disease-causing variant. Furthermore, computational approaches were used to characterize the effect of the variant. In this study, we identify and report a novel variation in the COMP gene, c.1420_1422del (p.Asn47del), causing a spontaneous form of PSACH in our patient. Our in silico model indicated that any mutational changes in this region are very susceptible to PASCH phenotype. Overall, this study is the first PSACH case in the Turkish Cypriot population. Moreover, this finding contributes to the concept that the genotype-phenotype correlation in COMP is still unknown and also improves our understanding of this complex disorder.