A Successful Renal Transplantation Case After Stem Cell Transplantation.

Renal transplantation is the most effective treatment method for end-stage renal disease (ESRD). However, new treatment modalities are being investigated, such as immunotoleration, to avoid the acute and chronic side effects of immunosuppressant drugs. We report a case in which a man had undergone allogenic stem cell transplantation from his brother 16 years ago due to chronic myeloid leukemia, and who then developed ESRD due to arterial hypertension and underwent renal transplantation (Rtx) from the same brother. The patient was followed up without immunosuppression due to full chimerism.

The association of ICAM E469K with cardiovascular characteristics of acromegaly.

OBJECTIVE: It has been shown that genetic factors have a role in the development of acromegaly. We aimed to investigate the association between intercellular adhesion molecule (ICAM)-1 E469K polymorphism and some cardiovascular clinical parameters of acromegalic patients. PATIENTS AND METHODS: We included 41 patients with acromegaly and 65 healthy subjects with similar age and sex to the study. Fasting plasma glucose (FPG), high-density lipoprotein-cholesterol (HDL-C), low-density lipoprotein-cholesterol (LDL-C), triglyceride (TG) were analyzed. Genotyping was made by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The frequency of genotype and allel ICAM-1 E469K was not significantly different between control and patients (p > 0.05). Systolic blood pressure (SBP), diastolic blood pressure (DBP) and FPG levels were significantly higher, and HDL-C was significantly lower in patients with KK genotypes compared to patients with EE genotype in acromegaly group (p < 0.05). CONCLUSIONS: This is the first study to investigate the role of ICAM gene polymorphism in acromegaly and its cardiovascular characteristics. ICAM E469K may not be a risk factor for the acromegaly in Turkish population but may be associated with hypertension, higher FPG and lower HDL-C in acromegalic patients.

Homocysteine levels after nitrous oxide anesthesia for living-related donor renal transplantation: a randomized, controlled, double-blind study.

BACKGROUND: Nitrous oxide anesthesia increases postoperative homocysteine concentrations. Renal transplantation candidates present with higher homocysteine levels than patients with no renal disease. We designed this study to investigate if homocysteine levels are higher in subjects receiving nitrous oxide for renal transplantation compared with subjects undergoing nitrous oxide free anesthesia. METHODS: Data from 59 patients scheduled for living-related donor renal transplantation surgery were analyzed in this randomized, controlled, blinded, parallel-group, longitudinal trial. Patients were assigned to receive general anesthesia with (flowmeter was set at 2 L/min nitrous oxide and 1 L/min oxygen) or without nitrous oxide (2 L/min air and 1 L/min oxygen). We evaluated levels of total homocysteine and known determinants, including creatinine, folate, vitamin B12, albumin, and lipids. We evaluated factor V and von Willebrand factor (vWF) to determine endothelial dysfunction and creatinine kinase myocardial band (CKMB)-mass, troponin T to show myocardial ischemia preoperatively in the holding area (T1), after discontinuation of anesthetic gases (T2), and 24 hours after induction (T3). RESULTS: Compared with baseline, homocysteine concentrations significantly decreased both in the nitrous oxide (22.3 ± 16.3 vs 11.8 ± 9.9; P < .00001) and nitrous oxide-free groups (21.5 ± 15.3 vs 8.0 ± 5.7; P < .0001) at postoperative hour 24. The nitrous oxide group had significantly higher mean plasma homocysteine concentrations than the nitrous oxide-free group (P = .021). The actual homocysteine difference between groups was 3.8 µmol/L. CONCLUSION: This study shows that homocysteine levels markedly decrease within 24 hours after living-related donor kidney transplantation. Patients receiving nitrous oxide have a lesser reduction, but this finding is unlikely to have a clinical relevance.

Comparison of open and retroperitonoscopic donor nephrectomy in terms of lipid and protein peroxidation responses.

BACKGROUND: This study was designed to compare donors who underwent open (ODN) versus retroperitonoscopic nephrectomy (RDN) in terms of intra-operative oxidative stress and recipients graft function in the early postoperative period. METHODS: Among 40 patients who underwent donor nephrectomy, 23 were operated via an open method and 17 via retroperitonoscopic method. To analyze oxidative stress, we measured plasma levels of malondialdehyde (MDA), protein carbonyl, and protein sulfhydryl moieties in donor venous blood before induction of anesthesia and postoperatively at 0, 6, and 24 hours. The influence of oxidative stress on graft function was evaluated by means of the postoperative 5th day recipient creatinine and estimated glomerular filtration rate (eGFR) Modification of Diet in Renal Disease Formula (MDRD) to evaluate delayed graft function (DGF) status. RESULTS: ODN patients showed significantly higher 24-hour mean levels of MDA, (6,139 ± 1,854 vs 4,813 ± 1,771 nmol/L; P = .01), protein carbonyl (366 ± 64 vs 311 ± 62 µmol/L; P = .01) and protein sulfhydryl (468 ± 110 vs 386 ± 75 µmol/L; P = .01) moieties compared with those RDN patients. However, ODN and RDN recipients were similar in terms of 5th day mean creatinine and eGFR (1.1 ± 0.3 vs 1.4 ± 0.8 mg/dL and 69.15 ± 12.24 vs 56.31 ± 25.2, respectively) and DGF status (4.4% [1/23] vs 5.9% [1/17], respectively). CONCLUSIONS: Although ODN donors were more prone to intra-operative oxidative stress than RDN donors, based on significantly higher levels of oxidative stress markers, this difference seems to not significantly influence recipients early graft function.

No association between catalase (CAT) gene polymorphisms and susceptibility to vitiligo in a Turkish population.

BACKGROUND AND AIMS: Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes from the cutaneous epidermis. Low catalase (CAT) activity and Accumulation of hydrogen peroxide (H2O2) have been demonstrated in the epidermis of vitiligo patients. Some polymorphisms on catalase gene may have effect on the quantity and activity of catalase enzyme. The aim of this study was to investigate whether catalase (CAT) gene polymorphisms are associated with susceptibility to vitiligo in Turkish population. MATERIALS AND METHODS: One hundred and three patients with vitiligo and one hundred and seven gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The CAT gene -89A>T (rs7943316) and 389C>T (rs769217) genotypes and allele frequencies of vitiligo patients did not differ significantly from those of healthy controls. CONCLUSIONS: We found no association between CAT gene -89A>T and 389C>T polymorphism and vitiligo susceptibility in Turkish vitiligo patients. Further studies with greater sample size should be performed to verify these results.

Genetics analysis with down syndrome and histopathological examination of buccal epithelial cells / Análisis genético y examen histopatológico de las células epiteliales bucales en pacientes con síndrome de down

Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8 percent). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome, while the bud structures in the form of micronuclei was observed in the karyolytic cells.

El síndrome de Down es causado principalmente por la trisomía del cromosoma 21. Se revisaron los estudios citogenéticos realizados en 1.048 pacientes que fueron remitidos a la Unidad de Citogenética del Dicle University Hospital, Diyarbakir, sudeste de Turquía, entre los años 2000 y 2009. Los casos se agruparon de acuerdo a la razón de referencia para el análisis citogenético. Las frecuencias más altas de cariotipos anormales se encontraron ent los casos que fueron remitidos por sospecha de síndrome de Down (84,8 por ciento). Para el estudio histológico de las personas con y sin síndrome de Down, se realizó el frotis de mucosa oral por hisopado. Los grupos con síndrome de Down y de control (sin síndrome) se compararon estadísticamente en relación a las células epiteliales orales y los núcleos (p <0,05). Se observaron núcleos periféricos en algunos pacientes con síndrome de Down, mientras que estructuras de tipo brotes en la forma de micronúcleos se observaron en las células cariolíticas.

Angiotensin-converting enzyme gene insertion/deletion polymorphism with metabolic syndrome in Turkish patients.

BACKGROUND: The ACE gene has received substantial attention in recent years as candidate for a variety of diseases. The most common polymorphism in ACE gene is the Insertion/Deletion (I/D, rs4646994) polymorphism located on intron 16. AIM: We investigated the association between metabolic syndrome (MS) and the insertion (I) - deletion (D) polymorphisms in the angiotensin converting enzyme (ACE) gene in south-east of Turkey. SUBJECTS AND METHODS: One hundred and sixty subjects, with 101 cases of MS and 59 age- and gender-matched healthy controls were included in the study. RESULTS: The frequency of ACE I/D polymorphism was found to be 49.5% for DD, 36.6% for ID, and 13.9% for II in the MSstudy group and 44.1% for DD, 42.4% for ID and 13.5% for II in the control group. Allele frequencies were found to be 0.68% for D and 0.32% for I allele in the study group with MS and 0.65% for D, 0.35% for I allele in the control group. The I/D polymorphism of the ACE gene, DD, ID, and II genotypes occurred with similar frequencies in the study group with MS and the control group with no significant differences (p<0.05). On applying one-way analysis of variance to different ACE gene polymorphic groups in patients with MS were not significantly associated to ACE gene polymorphism and waist circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, HDL, and LDL (p<0.05). CONCLUSIONS: Further studies of patients in larger numbers and of different ethnic backgrounds may be necessary to elucidate the association between the ACE I/D gene polymorphism and MS.

Chromosome heteromorphisms are more frequent in couples with recurrent abortions.

Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.

Combination of epidural anesthesia and general anesthesia attenuates stress response to renal transplantation surgery.

Choice of the anesthestic technique can reduce or even eliminate stress responses to surgery and decrease the incidence of complications. Our aim was to compare a combination of epidural anesthesia+general anesthesia with general anesthesia alone as regards perioperative insulin resistance and inflammatory activation among renal transplant recipients. Forty-six nondiabetic patients undergoing renal transplantation were prospectively randomized to the epidural anesthesia + general anesthesia group (n = 21), or general anesthesia alone group (n = 25). Plasma levels of glucose, insulin, interleukin (IL)-6, tumour necrosis factor (TNF)-α, resistin, and adiponectin were measured at baseline (T1), end of surgery (T2), postoperative first hour (T3), postoperative second hour (T4) and postoperative 24th hour (T5). Homeostasis model assessment-estimated insulin resistance (HOMA-IR) scores were calculated at every time point that the blood samples were collected. Glucose levels (P < .001) and insulin levels at the end of surgery (P = .048) and at postoperative first hour (P = .005) and HOMA-IR levels at the end of surgery (P = .012) and at postoperative first hour (P = .010) showed significantly higher values among the general anesthesia alone group when compared with the epidural+general anesthesia group. TNF-α levels at postoperative 2nd and at 24th hour (P = .005 and P = .004, respectively) and IL-6 levels at postoperative 1st and 2nd hours (P = .002 and P = .045, respectively) were significantly higher in the general anesthesia alone group when compared with the epidural+general anesthesia group. The TNF-α levels were significantly less at all time points when compared with baseline only in the epidural+general anesthesia group (T1, 33.36 vs 37.25; T2, 18.45 vs 76.52; T3, 15.18 vs 78.27; T4, 10.75 vs 66.64; T5, 2.98 vs 36.32) Hospital stays were significantly shorter among the epidural+general anesthesia group (P = .022). We showed partly attenuated surgical stress responses among patients undergoing renal transplantation using general anesthesia combined with epidural anesthesia compared with general anesthesia alone.

Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B.

Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism. Fifty-eight patients with chronic hepatitis B and 30 healthy individuals were genotyped in terms of the p53 gene codon 72 Arg72Pro polymorphism by PCR-RFLP. A 72-h cell culture was performed on the same individuals and evaluated in terms of chromosomal aberrations and mitotic index. A high frequency of chromosomal aberrations and low mitotic index were detected in the patient group compared to the control group. A higher frequency of chromosomal aberrations was detected in both the patient and the control groups with a homozygous proline genotype (13 patients, 3 control subjects) compared to patients and controls with other genotypes [Arg/Pro (38 patients, 20 control subjects) and Arg/Arg (7 patients, 7 control subjects)]. We observed an increased frequency of cytogenetic aberrations in patients with chronic hepatitis B. In addition, a higher frequency of cytogenetic aberrations was observed in p53 variants having the homozygous proline genotype compared to variants having other genotypes both in patients and healthy individuals.

Evaluation of clinical and cytogenetic findings on 1,068 second-trimester amniocenteses in Southeast Turkey.

OBJECTIVE: To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. MATERIAL AND METHODS: Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. RESULTS: Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploidies) and 13 were structural (2 reciprocal translocations, 2 Robertsonian translocations and 6 inversions). The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal maternal serum screening combined with abnormal ultrasound (US) findings (8.0%). CONCLUSION: This study suggests that complementary measures, such as routine antenatal US and maternal serum screening, should be added to increase the efficiency of genetic amniocentesis. Therefore, the study could be used for the establishment of a database for genetic counseling.

Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey.

We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.

Outcome of assisted reproduction treatment in patients with endometrial thickness less than 7 mm.

Endometrial thickness is one of the parameters contributing to the outcome of assisted reproduction treatment. The aim of the current study was to investigate the pregnancy rate and the outcome when the endometrial thickness was <7 mm during a treatment cycle. Treatments conducted between January 2000 and December 2004 at the German Hospital in Istanbul were reviewed retrospectively. A total of 175 embryo transfer cycles with an endometrial thickness of <7 mm on the day of oocyte retrieval were assessed. The 175 oocyte retrieval-embryo transfer cycles resulted in 53 pregnancies (30%), of which 11% were biochemical pregnancies, 26% were miscarriages and 58% were delivered. The clinical pregnancy rate was 26%, miscarriage rate was 31% and live birth rate was 17%. However, the results were quite good when the patient age was <35 years or the number of oocytes retrieved was over five or the number of available embryos to transfer was three or more. In conclusion, when the endometrial thickness is <7 mm during an treatment cycle, the couple should be informed about the chance of pregnancy and the outcome. In a young normoresponder woman with at least three embryos available for transfer, transfer could be carried out, otherwise embryo freezing should be recommended.

Protective antioxidant effects of carvedilol in a rat model of ischaemia-reperfusion injury.

This study investigated the protective effects of carvedilol, a potent antioxidant, in a rat model of tourniquet-induced ischaemia-reperfusion injury of the hind limb. Thirty rats were divided equally into three groups: the control group (group 1) was only anaesthetized, without creating an ischaemia-reperfusion injury; group 2 was submitted to ischaemia (4 h), followed by a 2-h reperfusion period; and group 3 was pre-treated with carvedilol (2 mg/kg per day) for 10 days prior to ischaemia-reperfusion. Ischaemia-reperfusion produced a significant decrease in superoxide dismutase and glutathione peroxidase activities in the liver, lungs, muscle and serum compared with control treatment, and pre-treatment with carvedilol prevented these changes. Ischaemia-reperfusion caused a significant increase in malondialdehyde and nitric oxide (NO) levels in liver, lungs, muscle (except NO) and serum compared with control treatment, and carvedilol prevented these changes. In conclusion, it might be inferred that carvedilol could be used safely to prevent oxidative injury during reperfusion following ischaemia in humans.

Comparison of the effect of ketamine added to bupivacaine and ropivacaine, on stress hormone levels and the duration of caudal analgesia.

BACKGROUND: The aim of this study was to compare bupivacaine 0.25% and ropivacaine 0.2%, singly and in combination with ketamine, for caudal administration in children. Duration of analgesia, the need for other analgesics and the stress response were measured. METHODS: Eighty children were randomized into four groups of twenty. The bupivacaine group received bupivacaine 0.25% and the ketamine/bupivacaine group received bupivacaine 0.25% plus 0.5 mg/kg ketamine. The ropivacaine group received ropivacaine 0.2%, and the ketamine/ropivacaine group received ropivacaine 0.2% plus 0.5 mg/kg ketamine. The duration of analgesia and analgesic requirements were recorded for each group, as were peri-operative and post-operative concentrations of the stress hormones insulin, glucose and cortisol. RESULTS: Ketamine, added to either bupivacaine or ropivacaine for caudal analgesia, gave a longer duration of analgesia (P < 0.05) than bupivacaine or ropivacaine alone. In all groups, blood insulin concentration was increased, and cortisol concentration reduced. Glucose concentration was significantly increased in all groups (P < 0.05). CONCLUSIONS: Ketamine can safely be added to ropivacaine 0.2% or bupivacaine 0.25% for caudal anesthesia in order to prolong duration of analgesia and reduce the need for additional analgesics. Stress hormone levels are partially attenuated.