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    ALKAPTONURIA DIAGNOSED IN A GERIATRIC PATIENT; A CASE REPORT
    (Gunes Kitabevi Ltd Sti, 2020) Gunduz, Ramazan; Ustun, Betul; Uran San, Ayca; Karatas, Hatice Gulsah; Akyuz, Mufit
    Alkaptonuria is a hereditary and metabolic disease which is characterised by ocranosis, arthritis and aciduria. It is a rare clinical condition which has an estimated incidence varies from 1/ 250,000 to 1/1000000 live births. This autosomal recessive disorder occurs as a result of homogentisic acid dioxygenase enzyme deficiency which takes part in tyrosine metabolism.This case reportaimed to present a geriatric patient who had diagnosed alkaptonuria. A 69 years old male was admitted to our department with knee-shoulder pain and range of motion (ROM) limitation. His medical history revealed that he had both mechanical and inflammatory joint pain for 22 years.The examination of his eyes were compatible with blue sclera and there was also bluish black discoloration on the ears. He had also hearing loss. Qualitative 24 hours collected urine examination showed dark black discoloration. The patient was diagnosed as alkaptonuria. A physical therapy programme were planned to the patient by our department. Clinicians should be aware of this pathology and the diagnosis should be confirmed by clinical, laboratory and radiological examinations.
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    Dynamic thiol and disulphide homoeostasis in fibromyalgia
    (Termedia Publishing House Ltd, 2020) Karatas, Gulsah; Gunduz, Ramazan; Haskul, Ismail; Ustun, Betul; Neselioglu, Salim; Karatas, Fatih; Akyuz, Mufit
    Introduction: Thiol and disulphide levels are biomarkers that provide useful information about oxidative stress and antioxidant capacity, showing a different homoeostasis in inflammatory and proliferative diseases. We aimed to clarify the possible aetiology of this disease by using thiol and disulphide levels in patients with fibromyalgia, the basis of which has not yet been clearly elucidated. Material and methods: A total of 156 individuals: 86 patients with fibromyalgia and 70 age-matched controls were included in this prospective non-randomised case-control study. Demographic characteristics including smoking status, body mass index (BMI), the duration of complaints, and pain levels were carefully recorded. Dynamic thiol-disulphide homoeostasis in blood samples was determined by an automatic-spectrophotometric method. The Mann-Whitney U and Student's t-test were used to determine the differences between the groups. Results: Sex, BMI, and smoking status were similar between the groups (p = 0.62, p = 0.09, and p = 0.64, respectively). While native thiol levels were found to be high in patients with fibromyalgia (p = 0.018), disulphide levels and the rates of disulphide/native thiol and disulphide/total thiol were significantly low (p = 0.049, p = 0.007, and p = 0.007, respectively). Correlation analysis showed no significant relationship between thiol-disulphide levels and duration of complaints or pain level. Conclusions: Thiol-disulphide balance in fibromyalgia was found to be similar to benign proliferative diseases, suggesting that the underlying mechanism is more likely to be of proliferative pattern rather than inflammatory. Additionally, fibromyalgia is not directly associated with increase in oxidative stress. The molecular mechanisms need to be elucidated.
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    A Rare Condition of Vertebral Squaring Accompanied by Hereditary Spherocytosis
    (Coll Physicians & Surgeons Pakistan, 2022) San, Ayca Uran; Tezce, Ahmet; Karatas, Hatice Gulsah; Ustun, Betul; Gunduz, Ramazan; Akyuz, Mufit
    Vertebral squaring is a radiological term which defines straightening of the ventral section of vertebral body. This condition generally occurs as a result of rheumatological inflammation such as ankylosing spondylitis. There are also several other clinical conditions rarely giving rise to this change, like Paget's disease, inflammatory arthritis, and Down's syndrome. To the best of our knowledge, this is the first case of vertebral squaring accompanied by hereditary spherocytosis (HS) in literature. HS is a relatively rare condition of hemolytic anaemia due to red cell membrane defects. A 28-year male was admitted to our department with low back pain. The patient had been diagnosed with HS. On radiological examination, vertebral squaring was detected by lateral radiograph and MRI of the lumbar spine. The detection of vertebral squaring is often confusing as the clinical picture may mimic other pathologies. The diagnosis should be confirmed by laboratory and radiological assessments.