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    Clinical evaluation of cerebral MRI findings in children with cerebral palsy
    (Bayrakol Medical Publisher, 2022) Durmaz, Sevda Canbay; Karabulut, Ahmet Kagan; Gungor, Serdal; Fazliogullari, Zeliha; Uysal, Ismihan Ilknur; Unver Dogan, Nadire
    Aim: In this study, we aimed to investigate the frequency of lesions, which show the hypoxic-ischemic brain damage, their anatomical localization, the timing of the occurrence of the lesions and the causes using the magnetic resonance imaging (MRI) method.Material and Methods: MRI findings of 150 patient with cerebral palsy (CP) were analyzed. MRI findings, patients' ages, gender, type of birth, birth ages, relationship of parents, additional diseases to CP and clinical type of CP were evaluated. As a control group, 100 healthy children with normal MRI findings of the same age, their gender, types of birth, birth ages, parents relationship and data were compared with the data of children with CPResults: When etiological factors of CP and the control group were compared, male children were found to be more affected than female. In the age groups, children aged 1-5 were determined to have cerebral palsy more than in the other groups. Related with CP ethiogenesis, prematurity and low birth weight play important roles. On the other hand, negative hospital conditions during and after the birth as well as the curative effect of rapidly developing medical technologies on the babies with high mortality, also have important effects on CP ethiogenesis.Discussion: Our results show that there are some similarities and differences between the cerebral palsy group and the controls. It was also determined that the MRI method is important in CP diagnosis. Anatomical localisations of the lesions in the brain support the relevant clinical symptoms and thus play an important role in the differential diagnosis.
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    Congenital disorder of glycosylation type II: Case report
    (Bayrakol Medical Publisher, 2021) Durmaz, Sevda Canbay; Ozbag, Davut; Solgun, Selma; Canbay, Ali; Tanriverdi, Cem Gurkan
    Congenital disorder of glycosylation (CDG) is an inherited metabolic disease characterized by defects in the synthesis of glycan groups of glycoproteins and glycolipids. In this study, we present the clinical, pathological and physical evaluation of a 10-year-old female patient who is still alive and has been diagnosed with CDG type 2, accompanied by musculoskeletal, heart, liver, lung involvement, vision and hearing problems, dysmorphic facial findings, as well as the affected central nerve system. The necessary measures were taken considering all possibilities and the fact that she did not have a clear diagnosis at a very early age and was diagnosed after a comprehensive evaluation. In particular, the physical treatment process, which started at a very early age, substantially prevented the delayed musculoskeletal, respiratory and circulatory problems by extending over a period of time. In this context, we think that our case is rare in the literature.
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    Investigation of Demographic Characteristics and General Appearance of Individuals with Angelman Syndrome
    (2025) Canbay, Ali; Dağ, Selma Solgun; Direk, Figen Koç; Durmaz, Sevda Canbay; Güven, Ümran; Özmutlu, Pınar
    Aim: Angelman syndrome (AS) is an autosomal dominant neurogenetic condition seen in 1 in 10000-22000 as a result of UBE3A gene dysfunction and microdeletion of the 15q11-13 region. The aim of this study is to determine the differences and similarities between individuals with AS by evaluating the demographic characteristics and general appearance of patients diagnosed with AS. Material and Method: Age, gender, weight, height, BMI, weight, height and head circumference at birth, age of parents, type of birth, mother's gestation period, relationship status of mother and father, presence of genetic disease, dead or miscarried siblings number, parental smoking status, first appearance of clinical signs of the disease, epilepsy, scoliosis, sleep, nutrition, and speech problems, laughing attacks, tongue size, gait status, hair and eye color of 79 cases with genetic diagnosed AS case were evaluated. Results: Of the individuals with AS who participated in the study, 40 (50.6%) were boys and 39 (49.4%) were girls. 43 of the patients (54.4%) were walking. The earliest walker among these patients started walking at the age of 3, and the latest walker started walking at the age of 13. 31 (40.5%) of our patients started walking between the ages of 3 and 4. When we asked the families when they noticed the first symptoms, all families realized that there were developmental problems before the child was 24 months old and consulted a physician. In fact, 70 of the families (88.6%) understood the problem before 12 months. When the time of onset of symptoms in boys and girls was compared, it was seen that the onset of symptoms was on average 2.82 months earlier in boys than in girls (p=0.004). The majority of cases with AS were thin, fair-skinned and blue-eyed individuals. Conclusion: The parameters evaluated in our study revealed general and current data about the characteristics of individuals with AS.