Biomedical subjects

T Coşkun

Publications and source records attributed to T Coşkun.

At least 73 records · Page 4Linked to original sources

PubMed1984

High dose intravenous glucocorticoid in the treatment of childhood acquired aplastic anaemia.

31 children with acute acquired aplastic anaemia were treated with very high doses of i.v. bolus methylprednisolone. In 3 of them, paroxysmal nocturnal haemoglobinuria was diagnosed. Therefore the responses of 28 patients have been evaluated. Normoblastaemia and reticulocytes were observed on about the 6th d and leucocyte and granulocyte response around the 11th d of treatment. The first haemoglobin (greater than or equal to 0.5 g/dl) and haematocrit elevations were documented on about the 16th d and the initial platelet response (average greater than or equal to 34 X 10(9)/l) took more than a month. At least 64% of the patients responded to this treatment including 2 cases in whom aplasia was observed following hepatitis. Although 10 episodes of recurrences occurred in 8 patients (with the exception of 3 patients' in whom 5 recurrences were observed), response to the same regimen was obtained. With 1 exception the side-effects of this treatment could be managed by decreasing the dose. With this treatment, acquired aplastic anaemia should no longer be considered a fatal disease, at least in children.

Anemia, Aplastic↗

PubMedDate not supplied

Study of 12 mutations in Turkish cystic fibrosis patients.

67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most common mutation is delta F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677delTA, G542X, G551D, S549N/I, R553X, L558S, R334W, and R297Q were not detected.

Adolescent↗

PubMedDate not supplied

Decrease in the placental transfer of chloramphenicol when administered in albumin microspheres into rats.

Chloramphenicol is an antibiotic which can pass across the human placenta and has teratogenic effects in the foetus. When this antibiotic is entrapped in albumin microspheres and administered to pregnant rats intravenously its placental transport is significantly lowered when compared with that of free drug. Drug modifications such as entrapment are suggested as an alternative way to prevent harmful effects of drugs in case of consumption during pregnancy.

Animals↗

PubMedDate not supplied

Effect of encapsulation of chloramphenicol in albumin microspheres on its in vitro transfer across the human placenta.

The possibility of reducing drug transfer across the placenta was tested in two of our previous studies. The aim of those studies was to demonstrate an alternative method of drug application during pregnancy which we think would yield a dual benefit, i.e. protecting the foetus from the harmful effects of drugs while curing the mother. The present study was planned as a continuation of the testing of the same idea and we tried to see the effect of albumin microsphere encapsulation of chloramphenicol on its transfer across the human placenta in vitro. Microspheres containing chloramphenicol were prepared according to the method previously described. The mean per cent encapsulation of chloramphenicol in albumin microspheres was found to be 42 +/- 4.3 per cent (n = 5) and the mean size of the albumin microspheres was 3.08 +/- 0.6 mm. In vitro stability of the drug-carrying microspheres was measured by dialysing them at 37 degrees C for 24 h. Chloramphenicol was released from the microspheres gradually leaving about 50 per cent of the entrapped drug in the microspheres after 1.5 h. About 20 per cent of the chloramphenicol was retained in the microspheres at 24 h postincubation. The persistence of the antibacterial effect of the released chloramphenicol is confirmed by antibiogramme tests. In the perfusions the initial free drug concentration was kept at 100 mg/ml.(ABSTRACT TRUNCATED AT 250 WORDS)

Albumins↗

PubMedDate not supplied

Analysis of delta F508 mutation in cystic fibrosis pathology specimens.

Incidence of delta F508, a severe mutation of the CFTR gene is found to be 36.3% in paraffin block cystic fibrosis liver tissues. Samples are histologically grouped according to severity of pancreatic involvement. Two families where delta F508 was detected postmortem and who have no living children, will have the chance for a prenatal diagnosis in the future pregnancies.

Age Factors↗

PubMedDate not supplied

Neurological crisis mimicking acute pancreatitis in tyrosinemia type I.

Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. Neurological manifestations have been reported in nearly half of patients during illness to have characteristics of altered consciousness, weakness, anorexia, vomiting, and pain in the extremities and abdomen. His physical findings and laboratory results pointed out acute pancreatitis. There have been some reports of acute and chronic pancreatitis in patients with metabolic diseases; however, this is the first case with tyrosinemia type I who exhibited clinical and biochemical findings of acute pancreatitis during neurological crisis. The presented case suggests the possibility that the pancreas is affected in neurological crisis. The determination of amylase concentration both in serum and urine samples of further cases will clarity the association between pancreatitis and neurological crisis.

Acute Disease↗

PubMedDate not supplied

Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.

Tetrahydrobiopterin (BH4) deficiencies are a heterogeneous group of disorders caused by a defect in two of the three enzymes involved in its biosynthesis or in the two recycling enzymes. Except for the deficiency of dehydratase, an enzyme catalyzing a reaction in the recycling pathway, all other variants of BH4 deficiency are characterized by developmental delay, progressive neurological deterioration, hypokinesis, drooling, swallowing difficulty, truncal hypotonia, increased limb tone, myoclonus and brisk deep tendon reflexes. A deficiency of guanosine triphosphate cyclohydrolase I (GTPCH), the first enzyme in the biosynthetic pathway of BH4, is described in a 14-month-old male infant with hyperphenylalaninemia, developmental delay, hypertonia of the extremities, seizures, feeding difficulties, and vomiting. Urinary pteridine screening revealed very low levels of neopterin and biopterin which was highly suggestive of GTPCH deficiency. Low cerebrospinal fluid concentrations of 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid concentrations, together with no detectable neopterin and decreased concentrations of biopterin and folate, agreed with the diagnosis of GTPCH deficiency. Subsequently measured neopterin and biopterin synthesis in cytokine-stimulated skin fibroblasts confirmed GTPCH deficiency, albeit indirectly. The patient showed marked improvement on a low-protein low-phenylalanine diet with neurotransmitter precursor administration. The favorable outcome in this patient clearly shows that not only newborns with elevated phenylalanine levels but also older children with neurological signs and symptoms should be screened for a BH4 deficiency in order to have maximum benefit of the treatment.

Antioxidants↗

PubMedDate not supplied

Carnitinuria in rickets due to vitamin D deficiency.

In this study, we measured the serum-urine total carnitine levels and PTH levels before and after treatment in 18 patients with nutritional rickets. The urine and blood samples were taken on the first (pretreatment) and the 15th day of the study (post-treatment). The total carnitine levels of serum and urine samples, serum PTH and serum-urine creatinine concentrations were determined. We found that the levels of carnitine excreted in the urine on the first (pre-treatment) and on the 15th day (post-treatment) were higher than the reference levels. Decrease in carnitine excretion on the 15th day seemed to be correlated with decrease in aminoaciduria at that time. The study showed a significant correlation between urinary carnitine excretion and serum PTH levels. In our study we did not find any significant difference between the serum total carnitine levels on the first (pre-treatment) and the 15th day (post-treatment), and both values were lower than the reference values for the same age group. We observed that the total serum carnitine levels did not change on the 15th day of the post-treatment period in spite of a decrease in urinary carnitine excretion. The results of the present study indicated that carnitine metabolism is disturbed in nutritional rickets. Further evaluation of rickets cases and new studies will probably lead to a better understanding of carnitine metabolism in nutritional rickets.

Amino Acids↗

PubMedDate not supplied

Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients.

M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients. In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48). The second most frequent mutation at the same nucleotide position was M467K, with an allele frequency of 4.2 percent (2/48). The polymorphism which is found in linkage disequilibrium with the M467T is 231T/A (exon 1). We also found that 231T/A was associated with the M467T mutation in our series.

Amino Acid Transport Systems, Basic↗

PubMedDate not supplied

Newborn PKU screening in Turkey: at present and organization for future.

At present, pkenylketonuria screening is a national child health program in Turkey which is carried out collaboratively by the Ministry of Health and three University Children's Hospitals in Ankara, Istanbul and Izmir. Since 1986 the number of cities included in the screening program has gradually increased, now and it covers all the metropolises the country. A total of 383 babies were found with persistent hyperphenylalaninemia (1:4,172) among 1,605,582 babies screened by the Guthrie test at the Hacettepe Screening Center in Ankara. By taking into account pretreatment phenylalanine levels and phenlyalanine tolerances at five years of age, the numbers of classical and mild-moderate phenylketonuria and mild hyperphenylalaninemia cases were 216, 102 and 58, respectively. The major problems encountered in the screening program and in management of the detected cases were unsatisfactory sample collection, early discharge from maternity hospitals, difficulties in reaching some detected cases, and noncompliance with dietary therapy due to illiterate parents or to lack of social insurance. To screen and treat all newborns for phenylketonuria and to include at least hypothyroidism in the screening program, there is a need for a more disciplinary intersectoral approach than exists at present.

Humans↗

PubMedDate not supplied

Intussusception due to ectopic pancreatic tissue in a nine-month-old child.

Ileo-colic intussusception was diagnosed in a nine-month-old male infant who presented with abdominal distention, irritability, and bilious vomiting. After reduction of the invaginated segment, a mass measuring one cm was palpated at the antimesenteric border of the terminal ileum. Pathological examination of the mass revealed ectopic pancreatic tissue, which most likely caused the intussusception.

Choristoma↗

PubMedDate not supplied

Neuroblastoma presenting as protein-losing enteropathy.

Protein-losing enteropathy is often reported to be associated with malignancies such as Hodgkin's disease, non-Hodgkin's lymphoma, and mesenteric mesenchymoma, but it seldom complicates neuroblastoma. In this report, we describe a case of neuroblastoma presenting as protein-losing enteropathy in which neurohumoral mechanisms were involved.

Female↗

PubMedDate not supplied

Beta-ketothiolase deficiency. A case report.

A four-month-old boy with beta-ketothiolase deficiency is described in this report. Presenting symptoms and signs were vomiting, irritability and acidotic respiration. Laboratory investigations revealed hyperglycinemia, metabolic acidosis and ketosis. Subsequent urinary GC-MS analysis of the patient's urine sample showed the typical pattern of beta-ketothiolase deficiency. Our experience with this case indicates that accurate diagnosis and early treatment of inborn errors might be lifesaving.

Acetyl-CoA C-Acyltransferase↗

PubMedDate not supplied

Hereditary fructose intolerance in a patient with phenylketonuria.

Classical phenylketonuria (PKU) and hereditary fructose intolerance (HFI) are two inborn errors of metabolism that have an autosomal recessive mode of inheritance. In this paper, we described a 3-year-old girl with PKU and HFI. The occurrence of these two defects in the same patient is thought to be fortuitous and not genetically related since this is the first reported case and the statistical probability of such an occurrence is very low.

Child, Preschool↗

PubMedDate not supplied

Prenatal diagnosis of cystic fibrosis in a Turkish family.

Prenatal diagnosis of cystic fibrosis (CF) was made in a Turkish family whose first born child was diagnosed at necropsy as having CF. Two consecutive pregnancies followed. The fetus of the second pregnancy was diagnosed as having CF by the microvillar enzyme assay and was aborted. The diagnosis was verified by the DNA polymerase chain reaction analysis using chorionic villi from the abortus. In the third pregnancy, amniocentesis was performed in the 17th week, and KM19 polymorphism linked to CF was used to assess the status of the fetus. Since the fetus was determined to be a carrier, the family was advised to continue with the pregnancy.

Base Sequence↗

PubMedDate not supplied

Intracranial calcification in dihydropteridine reductase deficiency.

We described the clinical status and computerized tomographic findings of two patients with tetrahydrobiopterin (BH4) deficiency due to impaired BH4 regeneration. In addition to an unfavorable course, cranial computerized tomography scans demonstrated severe cortical and subcortical atrophy and bilateral corticomedullary and basal ganglia calcifications in these two cases. The occurrence of calcification in the same distribution following the use of methotrexate, a folic acid antagonist, supported the hypothesis that there is a link between the metabolism of pterins and folate.

Brain↗

PubMedDate not supplied

Iminoglycinuria: a benign type of inherited aminoaciduria.

The diagnosis of iminoglycinuria was established in two patients on the basis of increased urinary excretion of proline, hydroxyproline and glycine in the presence of normal plasma concentrations of these respective compounds. Routine metabolic screening was performed in these infants in order to find the cause for the developmental delay observed in one infant and the siblings deaths noted in the family of the other. These two patients gave further support to the previous suggestion that renal iminoglycinuria is a benign disorder with no recognizable clinical pattern. Its detection, therefore, requires screening programs or amino acid studies.

Developmental Disabilities↗

PubMedDate not supplied

Nonketotic hyperglycinemia in a newborn infant.

A neonate with nonketotic hyperglycinemia who experienced apnea, hiccups and tonic-clonic seizures on the first day of life is reported. The physical findings and laboratory tests including arterial blood gases were normal. However, serial blood and CSF amino-acid analyses demonstrated elevated glycine levels. Serum and CSF glycine levels were 1949 mumol/L and 415.5 mumol/L, respectively. (Normal serum level is 104-254 mumol/L and CSF level is 5 +/- 2 mumol/L). The CSF/plasma glycine ratio was 0.11. Oral sodium benzoate and folic acid therapy was initiated. After two weeks of assisted ventilation and clinical improvement, the patient was discharged with a protein-restricted diet.

Amino Acid Metabolism, Inborn Errors↗