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  1. Home
  2. Browse by Author

Browsing by Author "Çam, S"

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    A rare genetic syndrome with a new splice mutation detected in the EFTUD2 gene; mandibulofacial disostosis, guion-almeida type
    Gerik-Çelebi, B; Ceylaner, S; Çam, S
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    An assessment of the quality of various bottled mineral water marketed in Turkey
    Baba, A; Erees, FS; Hicsönmez, Ü; Çam, S; Özdilek, HG
    Fifteen bottled mineral waters purchased at random all over Turkey were analyzed for their chemical composition by OPTIMA-2000 ICP-AES Perkin Elmer techniques. Results show a wide spread in the chemical specification of these mineral waters, with differences in chemical composition observed in the regions being due to the geological environment and the majority of bottled mineral waters exceeding the pH limit of Turkish drinking water standards. When the concentrations of elements are evaluated, it can readily be seen that generally there are three types of mineral water in Turkey. The concentrations of Al, B, Ba, Cd, Cu, Cr, Fe, Mn Pb and Zn in mineral water were compared with the limits established by the Turkish Standard for Natural Mineral Waters (Turkish Official Gazette 2004); water standards prepared by World Health Organization (2006) and the United States of America Environmental Protection Agency (US EPA) drinking water standards (1993). Such a comparison shows that, except for Ba and Mn, the concentrations of the other heavy metals are lower than the limit of the US.EPA in Turkey. Some parameters examined were found to comprise strong correlations pair-wise.
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    The Relationship Between Angiotensin Converting Enzyme Insertion/deletion Polymorphism and Age-related Macular Degeneration
    Üçer, B; Kayikçioglu, Ö; Seymenoglu, G; Var, A; Çam, S
    Background: To assess the role of serum angiotensin converting enzyme (ACE) levels and ACE insertion / deletion (I/D) genetic polymorphism in Turkish age-related macular degeneration (AMD) patients and control subjects. Methods: This prospective study consisted of 78 patients with AMD and 68 control subjects. The I/D polymorphism of the ACE was carried out by polymerase chain reaction. Serum ACE levels were determined by using the ELISA method. Results: There was no significant difference in the mean serum values of ACE between the control and patient groups (p = 0.107). The genotypic frequencies of ACE polymorphism in the control and patient groups were not significantly different either (p = 0.218). Conclusion: We could not show a significant role of serum ACE levels and ACE I/D genetic polymorphism in the etiopathogenesis of AMD in the Turkish population, and our findings did not support the idea that serum ACE levels and ACE DD genotype were risk factors for AMD.
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    Determination of Major and Minor Elements in the Malva sylvestris L. from Turkey Using ICP-OES Techniques
    Hicsönmez, Ü; Erees, FS; Özdemir, C; Özdemir, A; Çam, S
    In this work, Malva sylvestris var. mauritiana (L.) leaves were collected from different points in Muradiye region of Manisa-Turkey. The leaves were dissolved by wet digestion method using a mixture of mineral acid. Concentrations of Ag, Al, B, Ba, Bi, Ca, Cd, Co, Cr, Cu, Fe, K, La, Mg, Mn, Na, Ni, Pb, Sn, Sr, Sb, Si, Ti, U, Zn, and Zr in prepared solutions were determined by using inductively coupled plasma optical emission spectrometry (ICP-OES). High Ca (13,848 mg/kg) and Mg (1,936 mg/kg) concentrations were found at the leaves. Obtained values were compared with the internationally permitted (standard) values. The results of elements were analyzed statistically (analysis of variance test). For different leaf sizes, concentration factors were calculated.
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    A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
    Ayça, S; Çelebi, HBG; Çam, S; Polat, M
    We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings. In the older sister, muscle biopsy was performed; immunohistochemical studies showed a dystrophic pattern and merosin deficiency. With the diagnosis of merosin-deficient congenital muscular dystrophy (MDC1A), LAMA2 gene mutation analysis revealed an NM_000426.3:c.163_163delA; (p.N55Mfs*16) homozygous frameshift mutation in the siblings. This mutation leads to a premature stop codon and has not been reported previously in the literature.
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    A Novel Frameshift Mutation in CACNA1A Gene in a Turkish Patient with Episodic Ataxia Type 2
    Gerik-Çelebi, B; Mavioglu, H; Çam, S
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    A novel NOTCH3 gene mutation in a Turkish family
    Aydin-Gümüs, A; Gerik-Çelebi, B; Çam, S
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    Radon Exhalation Rate from Building Materials Using CR-39 Nuclear Track Detector
    Topçu, N; Biçak, D; Çam, S; Erees, FS
    Humans are exposed to radiological hazards from natural radiation sources that exist mainly in the earth's crust. Radon is a noble gas and is formed by the decay of Ra-226, which is one of the nuclides formed in the disintegration series from U-238. Building materials are considered as one of the major sources of radon in the indoor environment. Radon is one of the indoor sources that cause radiological health risk. To study radon exhalation rate, samples of sand, gravel, stone, cement, granite, marble, ashlar, ceramic tile and bricks were collected from Manisa and Izmir provinces of Turkey. The radon exhalation rates (in terms of mass and surface area) for these materials were also calculated by using solid-state nuclear track detector (CR-39). The mass and surface exhalation rates are calculated by following the radon activity growth as a function of time. These values were also compared with literature values.
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    Assessment of dose rates around Manisa (Turkey)
    Erees, FS; Aközcan, S; Parlak, Y; Çam, S
    Natural radionuclide activity concentration of surface soils at 64 locations in central Manisa were measured using gamma spectrometry (ORTEC). The natural gamma radioactivity of the terrestrial radionuclides in soil samples and the gamma-absorbed dose rates of these radionuclides in air were calculated. In this study, track etch film (CR-39) was used to determine the distribution of radon levels in dwellings. The average annual effective dose equivalents from the calculated outdoor terrestrial gamma radiation for a person in Manisa is 66 mu Sv, whilst the annual effective dose equivalent from Rn-222 is calculated to be 4.83 mSv/yr. (c) 2006 Elsevier Ltd. All rights reserved.
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    Natural radionuclides in the building materials used in Manisa City, Turkey
    Erees, FS; Dayanlkli, SA; Çam, S
    The activity concentrations of U-238, Th-232 and K-40 in brick, cement and sand samples used as building materials in Manisa province were analysed by a gamma-ray spectroscopy coupled with a Nal (TI) detector. Doses received by the citizens living in Manisa due to these building materials were also calculated. The highest activity concentrations of U-238, Th-232 and K-40 found in the sand samples were 1559.10 Bq(.)kg(-1), 142.48 Bq(.)kg(-1) and 1711.47 Bq(.)kg(-1), respectively. The maximum mean of radium equivalent activity Ra-eq was 945 Bq(.)kg(-1) calculated for levels in sand, gravel and stone samples.
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    Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
    Batum, M; Kisabay, AKA; Çetin, G; Celebi, HBG; Çam, S; Mavioglu, H
    Introduction Episodic ataxia is a clinical condition characterized by episodes of balance and coordination problems that last minutes to hours. It can be inherited or sporadic, and it can be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. Methods In this article, we present a case of a patient who had a coincidental occurrence of episodic ataxia type 2 (EA2) and multiple sclerosis (MS) Results: The patient who had a previously unidentified heterozygous mutation in the calcium voltage-gated channel subunit alpha 1 A gene (CACNA1A). Conclusion There is no publication in the literature reporting the co-occurrence of MS and EA2. This combination may be coincidental in this patient, or it may be a relationship that has not yet been scientifically revealed.

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