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ABSTRACT Glucose-6-phosphate dehydrogenase (G6PD) enzyme from cases known to be completely or mildly deficient were analyzed. The enzymes were purified from blood samples by utilizing DEAE-52 cellulose pH 7.0 column chromatography and... more
ABSTRACT Glucose-6-phosphate dehydrogenase (G6PD) enzyme from cases known to be completely or mildly deficient were analyzed. The enzymes were purified from blood samples by utilizing DEAE-52 cellulose pH 7.0 column chromatography and ammonium sulphate precipitation. Biochemical and electrophoretic properties of G6PD were studied in these partially purified enzymes. In this study we report three new variants from Cukurova, named Adana, Samandağ, and Balcali. Variant I (G6PD Adana) had a high Km for G6P (210 microM) and NADP (13 microM). Utilization of 2d-G6P was 38%. It had a slow electrophoretic mobility, a biphasic pH optimum curve, and abnormal heat stability. Variant II (G6PD Samandağ) had a low Km for G6P (25 microM) and a high Km for NADP (18 microM). The rate of utilization of 2d-G6P was normal. G6PD Samandağ deviated from the normal enzyme by its biphasic pH optimum curve and its slow electrophoretic mobility. Variant III (G6PD-Balcali) had a normal Km G6P, NADP and rate of utilization of 2d-G6P. However, it showed a biphasic pH optimum curve and slow electrophoretic mobility.
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Research Interests:
ABSTRACT Glucose-6-phosphate dehydrogenase (G6PD) enzyme from cases known to be completely or mildly deficient were analyzed. The enzymes were purified from blood samples by utilizing DEAE-52 cellulose pH 7.0 column chromatography and... more
ABSTRACT Glucose-6-phosphate dehydrogenase (G6PD) enzyme from cases known to be completely or mildly deficient were analyzed. The enzymes were purified from blood samples by utilizing DEAE-52 cellulose pH 7.0 column chromatography and ammonium sulphate precipitation. Biochemical and electrophoretic properties of G6PD were studied in these partially purified enzymes. In this study we report three new variants from Cukurova, named Adana, Samandağ, and Balcali. Variant I (G6PD Adana) had a high Km for G6P (210 microM) and NADP (13 microM). Utilization of 2d-G6P was 38%. It had a slow electrophoretic mobility, a biphasic pH optimum curve, and abnormal heat stability. Variant II (G6PD Samandağ) had a low Km for G6P (25 microM) and a high Km for NADP (18 microM). The rate of utilization of 2d-G6P was normal. G6PD Samandağ deviated from the normal enzyme by its biphasic pH optimum curve and its slow electrophoretic mobility. Variant III (G6PD-Balcali) had a normal Km G6P, NADP and rate of utilization of 2d-G6P. However, it showed a biphasic pH optimum curve and slow electrophoretic mobility.
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The most common causes of neonatal indirect hyperbilirubinemia are blood incompatibility and erythrocyte enzyme defects. Glucose-6-phosphate dehydrogenase (G6PD) is a guarantee of erythrocyte stability and capability of existence of red... more
The most common causes of neonatal indirect hyperbilirubinemia are blood incompatibility and erythrocyte enzyme defects. Glucose-6-phosphate dehydrogenase (G6PD) is a guarantee of erythrocyte stability and capability of existence of red cells. We present here the results of a study on the effect of enzyme kinetics and different mutations on neonatal hyperbilirubinemia in the Cukurova region. Two hundred healthy term male neonates born in Cukurova University Balcall Hospital, Adana Maternity Hospital and Cukurova Maternal and Children's Hospital between 1 November 2004 and 30 November 2007 were consecutively studied. Nanogen DNA microarray was used to determine Gd Union, Gd San, Gd Mediterranean, and Gd San Antonio mutations. Quantitative G6PD enzyme assays were performed. Glucose-6-phosphate dehydrogenase deficiency was detected in six out of 200 male neonates (3%). The other 194 neonates had normal G6PD activity, with a mean of 8.3 +/- 2.1 IU/g hemoglobin (Hb) (5.2-12.7 IU/g Hb...
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We report a case of a 27-year-old man who presented with a clinical history of swelling on the left side of his head. MRI scan showed a left frontal meningioma. The patient underwent a macroscopically complete resection. The histological... more
We report a case of a 27-year-old man who presented with a clinical history of swelling on the left side of his head. MRI scan showed a left frontal meningioma. The patient underwent a macroscopically complete resection. The histological diagnosis was malignant meningioma. Ten months after the initial diagnosis, multiple distant metastases were detected. Risk factors leading to metastasis in this case are discussed with a review of the literature.
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Research Interests: Adolescent, Soft Tissue Preservation, Humans, Child, Female, and 8 moreMale, Clinical Sciences, Aged, Middle Aged, Adult, Neurosciences, Brain Edema, and Scalp
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Research Interests:
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The effects of neuronotrophic factors (NFs) on adult adrenal medulla grafts transplanted into the rat caudate nucleus after the destruction of the nigrostriatal dopaminergic pathways were investigated. Two months after implantation, all... more
The effects of neuronotrophic factors (NFs) on adult adrenal medulla grafts transplanted into the rat caudate nucleus after the destruction of the nigrostriatal dopaminergic pathways were investigated. Two months after implantation, all of the adrenal medulla grafts treated with NFs, but only 45% of the untreated grafts, had survived. The levels of tyrosine hydroxylase activity in the caudate nucleus however, were not significantly different between the sham-operated control and either NF-treated or untreated grafted groups. These results indicate that treatment with NFs significantly enhances the survival rate of the grafts.
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The slit ventricle syndrome (SVS), defined as intermittent shunt malfunction without substantial ventricular enlargement, is usually observed in shunted children with small, slitlike ventricles. This syndrome has been attributed to... more
The slit ventricle syndrome (SVS), defined as intermittent shunt malfunction without substantial ventricular enlargement, is usually observed in shunted children with small, slitlike ventricles. This syndrome has been attributed to recurrent obstruction of the ventricular catheter, which then causes an increase of intracranial pressure. Only rarely has the SVS been reported in adults. We describe a 29-year-old woman whose shunt malfunction presented with long-lasting paroxysmal hypersomnia and was diagnosed with computed tomographic evidence of small lateral ventricles. This episodic hypersomnia presented every 2 to 3 weeks and each episode lasted 1 to 2 weeks. After revision of the ventricular catheter, her symptoms stopped and she remained well.
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We report on three different cases with Virchow-Robin spaces, including one with extreme widening causing hydrocephalus. In one patient we have performed neuroendoscopic cyst fenestration to resolve the problem.
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During spinal surgery using a horseshoe headrest with the patient in the prone position, the possibility of central retinal artery occlusion (CRAO) increases, and its cause can be attributed primarily to excessive extraocular pressure, a... more
During spinal surgery using a horseshoe headrest with the patient in the prone position, the possibility of central retinal artery occlusion (CRAO) increases, and its cause can be attributed primarily to excessive extraocular pressure, a very rare complication. This report describes a case of CRAO, occurring in an adult, after cervical syringomyelia surgery in which a horseshoe headrest was used.
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Research Interests:
ABSTRACT Glucose-6-phosphate dehydrogenase (G6PD) enzyme from cases known to be completely or mildly deficient were analyzed. The enzymes were purified from blood samples by utilizing DEAE-52 cellulose pH 7.0 column chromatography and... more
ABSTRACT Glucose-6-phosphate dehydrogenase (G6PD) enzyme from cases known to be completely or mildly deficient were analyzed. The enzymes were purified from blood samples by utilizing DEAE-52 cellulose pH 7.0 column chromatography and ammonium sulphate precipitation. Biochemical and electrophoretic properties of G6PD were studied in these partially purified enzymes. In this study we report three new variants from Cukurova, named Adana, Samandağ, and Balcali. Variant I (G6PD Adana) had a high Km for G6P (210 microM) and NADP (13 microM). Utilization of 2d-G6P was 38%. It had a slow electrophoretic mobility, a biphasic pH optimum curve, and abnormal heat stability. Variant II (G6PD Samandağ) had a low Km for G6P (25 microM) and a high Km for NADP (18 microM). The rate of utilization of 2d-G6P was normal. G6PD Samandağ deviated from the normal enzyme by its biphasic pH optimum curve and its slow electrophoretic mobility. Variant III (G6PD-Balcali) had a normal Km G6P, NADP and rate of utilization of 2d-G6P. However, it showed a biphasic pH optimum curve and slow electrophoretic mobility.
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ABSTRACT Beta-thalassemia is the most common genetic abnormality causing health problems worldwide. Cukurova, in the southern part of Turkey, being on the Mediterranean, is in the thalassemic belt. Since there is no cure for the disease... more
ABSTRACT Beta-thalassemia is the most common genetic abnormality causing health problems worldwide. Cukurova, in the southern part of Turkey, being on the Mediterranean, is in the thalassemic belt. Since there is no cure for the disease at present, the frequency of the mutation types of beta-thalassemia must first be identified to aid in clinical follow-up and prenatal diagnosis. Carriers identified during a screening survey and patients referred to our laboratory were studied for this purpose. After routine hematological analysis molecular screening was performed by the amplification refractory mutation system and DNA sequencing. The frequency of the common mutations were: IVS-I-110 (G-->A) 57.3%, IVS-I-1 (G-->A) 8.3%, codon 39 (C-->T) 6.4%, IVS-I-6 (T-->C) 5.7%, frameshift codon 8 (-AA) 5.7%, -30 (T-->A) 4.7%, IVS-II-1 (G-->A) 3.4%, IVS-II-745 (G-->C) 2.8%, and frameshift codon 5 (-CT) 1.1%. Some rare mutations (1%) such as frameshift codon 44 (-C) 0.7%, frameshift codons 74/75 (-C) 0.7%, IVS-1-5 (G-->C) 0.7%, frameshift codons 8/9 (+G) 0.4%, frameshift codons 36/37 (-T) 0.4%, frameshift codons 22/23/24 (-AAGTTGG) 0.4%, IVS-1-130 (G-->C) 0.4%, IVS-1-5 (G-->T) 0.2%, -28 (A-->C) 0.2%, codon 15 (TGG-->TGA) 0.2%, and frameshift codons 82/83 (-G) 0.2%, were detected by sequence analysis. The codon 15 (TGG-->TGA) and frameshift codons 82/83 (-G) mutations were seen in Turkey for the first time.
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The aim of this study is to evaluate the effect of division of the tethered spinal cord urodynamically in spinal dysraphic cases. Between 1995-1997, 20 cases (11 males, 9 females) aged from 5 months to 13 years with TSC were investigated.... more
The aim of this study is to evaluate the effect of division of the tethered spinal cord urodynamically in spinal dysraphic cases. Between 1995-1997, 20 cases (11 males, 9 females) aged from 5 months to 13 years with TSC were investigated. 13 cases (65%) were classed as belonging to the myelomeningocele group and 5 cases (35%) to the spina bifida occulta group. We used a computerized urodynamic system to evaluate the functions of the lower urinary tracts pre- and postoperatively. The definitive diagnosis of cord tethering was made using magnetic resonance imaging (MRI) in 19 cases (95%) and spinal ultrasound in 1 case (5%). Division of filum terminale and laminectomy were carried out in all cases by the Neurosurgery Department, and 2 cases with retethering were operated on twice. All of these cases were assessed urodynamically in the preoperative and postoperative period. Significant improvements were noted in detrusor functions (35%); electromyography recordings (45%); high leak point pressures (55%) and anal and urinary continence (70%). Lower urinary tract dysfunctions secondary to tethered cord syndrome are very common in spinal dysraphic cases and significant improvements can be achieved with a judiciously timed division of the spinal tethered cord.
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Research Interests:
Research Interests:
We have analysed the alpha-globin gene defects present in several members of a large family from Southern Turkey. One deletional alpha-thalassaemia-1 (type MED-II) was found in 10 subjects: this deletion is in excess of 26.5 kb and... more
We have analysed the alpha-globin gene defects present in several members of a large family from Southern Turkey. One deletional alpha-thalassaemia-1 (type MED-II) was found in 10 subjects: this deletion is in excess of 26.5 kb and includes all zeta- and alpha-globin genes. Besides the common types of deletional alpha-thalassaemia-2 (-3.7 kb and -4.2 kb) we observed a nondeletional alpha-thalassaemia-2 that results from an A----G mutation (AATAAA----AATGAA) in the polyadenylation signal of the alpha 2-globin gene: the same A----G replacement is present in the psi alpha l gene. The mutation must cause a considerable alpha-chain deficiency as is evidenced by the haematological data for five members with Hb H disease due to a compound heterozygosity for alpha-thalassaemia-1 (MED-II) and the newly discovered poly A mutation. Several members had additional beta-chain abnormalities (Hb S, Hb D-Los Angeles, beta-thalassaemia); the 11 persons with a Hb S heterozygosity and various alpha-globin gene defects (-alpha/alpha alpha; alpha T alpha/alpha alpha, - -/alpha alpha, -alpha/-alpha and - -/alpha T alpha) showed a decrease in the level of Hb S that was directly related to the severity of the alpha-chain deficiency.
Research Interests: British, Thalassemia, Adolescent, DNA, Humans, and 9 moreChild, Mutation, Female, Male, Pedigree, Middle Aged, Adult, Base Sequence, and Poly A
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The analytical, intra-individual, inter-individual variation and reference values were determined for red cell glucose-6-phosphate dehydrogenase (G6PD). Different procedures for the conditions for storage of red blood cells and the... more
The analytical, intra-individual, inter-individual variation and reference values were determined for red cell glucose-6-phosphate dehydrogenase (G6PD). Different procedures for the conditions for storage of red blood cells and the preparation of haemolysates were investigated. A total of 2170 samples of blood were taken from apparently healthy persons-1212 males and 958 females--from randomly selected villages and city centres in the southern part of Turkey. Analytical variation, intra-individual variation and inter-individual variation were 8.67%, 32.8% and 31.8%, respectively. The mean (SD) for G6PD was 8.6 (3.3) IU/gHb. The index of individuality, 1.03, showed that the reference intervals could be used for diagnostic purposes. Whole blood or a red cell pellet could be stored in physiological saline for one week at 4 degrees C or -20 degrees with little loss of activity. Two of three different procedures for the preparation of haemolysate gave data that showed no statistical difference and were equally satisfactory.