Browsing by Author "Poyrazoglu, Hatice Gamze"

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Bone Mineral Density and Bone Metabolic Markers' Status in Children with Neurofibromatosis Type 1
(2017) Poyrazoglu, Hatice Gamze; Bas, Veysel Nijat; Arslan, Alev; Bastug, Funda; Canpolat, Mehmet; Per, Huseyin; Gumus, Hakan; Kumandas, Sefer; https://orcid.org/0000-0003-4444-0027; 28125404; V-1112-2019
Background: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1. Methods: The study population included 33 pediatric NF1 patients (20 males and 13 females). Bone metabolic markers, such as total calcium, phosphorus, magnesium, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin D, the urinary calcium/creatine ratio were measured. In addition, BMD was measured at both the lumbar spine (LS) and the femoral neck in all the patients. Results: All the patients had a low 25-OH vitamin D level, but it was significantly lower in the females than in the males (p < 0.009). Overall, 18.2% of the patients had skeletal abnormalities. The lumbar Z-score was <= 2 in 21.2% of the patients, whereas the femoral neck Z-score was <= 2 in 9.1%. The urinary calcium/creatine ratio was significantly higher in the female than in the male patients (p < 0.027). In all, six patients had skeletal abnormalities. Conclusions: It is widely known that bone mineral metabolism markers and BMD are significantly affected in NF1 patients; however, the present study did not identify any effective parameters that could be used to predict skeletal abnormalities, or diagnose early osteoporosis and osteopenia in pediatric NF1 patients.
Combination of Two Different Homozygote Mutations in Pompe Disease
(2016) Arslan, Alev; Poyrazoglu, Hatice Gamze; Kiraz, Aslihan; Ozcan, Alper; Isik, Halid; Ergul, Ayse Betuel; Mungan, Neslihan Onenli; Streubel, Berthold; Ceylaner, Serdar; Torun, Yasemin Altuner; https://orcid.org/0000-0003-4444-0027; 26946079; V-1112-2019
Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13T>G homozygote and c.1856G>A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.
Effects of L-Thyroxine Treatment on Heart Functions in Infants with Congenital Hypothyroidism
(2017) Arslan, Alev; Bas, Veysel Nijat; Uytun, Salih; Poyrazoglu, Hatice Gamze; https://orcid.org/0000-0003-4444-0027; 28358714; V-1112-2019
Background: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography. Methods: The study included 30 neonates with CH and 34 healthy controls. Echocardiography were performed at baseline, 2nd week and 6th month of therapy. Results: Heart systolic function was normal. Mitral E velocities and mitral E/A ratios were significantly lower in patients at baseline. Tei indices were significantly higher in patients and a significant negative correlation was detected between free thyroxine levels and Tei indices. When early and late post-treatment echocardiography findings are compared, a non-significant difference was detected. Conclusions: Neonates with CH may exhibit systolic and diastolic heart dysfunction, which can be reversed by early L-T4 substitution treatment. The Tei index index should be measured in addition to conventional echocardiography.
Evaluation of Carotid Intima-Media Thickness in Children with Migraine: A Marker of Subclinical Atherosclerosis
(2016) Poyrazoglu, Hatice Gamze; Vurdem, Umit Erkan; Arslan, Alev; Uytun, Salih; https://orcid.org/0000-0003-4444-0027; 27371188; V-1112-2019
Migraine is a commonly seen neurovascular disorder during childhood. Inflammation induced by the activation of cytokines and neuropeptides is implied in its pathophysiology. There is an association between inflammation and atherosclerosis in patients with migraine. In addition, there is a strong correlation between early atherosclerotic wall lesions and carotid intima-media thickness (CIMT). The study population consisted of 57 migraine patients aged 5-17 years, as well as 47 healthy children who served as the control group. Those migraine patients who were not receiving any medications at the interictal period were compared to healthy controls in terms of their measured lipid levels, thyroid function, vitamin B12 levels, serum iron levels, iron binding capacity, complete blood count, C-reactive protein (CRP) levels, and carotid intima-media thickness (CIMT) scores, which may comprise risk factors for atherosclerosis. When children in the migraine and control groups were compared in terms of those risk factors that are known to be related to vascular changes, no significant differences were found. However, a significant difference was detected in CIMT values (P < 0.05). Atherosclerosis commences in childhood, and there is a long period of time before the onset of ischemic symptoms occurs. In children with migraine, an evaluation of CIMT can be used as a non-invasive imaging modality to detect atherosclerosis, which develops in the context of chronic inflammation. In this way, measures to reduce morbidity and mortality, which may result from cardiovascular diseases, can be implemented.