Preliminary study on the thermally stimulated luminescence characterization of UVC and beta irradiated tridymite.

Thermoluminescence (TL) emission of tridymite, a quartz-like mineral, could be used for a variety purposes, including basic research, ceramic technology, traditional/medical industry, and dating. The current study focused on the investigation of the thermal effects on both the luminescence emission and structural properties of natural tridymite. Thermally stimulated luminescence of beta and UVC irradiated samples exhibits complex glow curves indicating simultaneous physical-chemistry processes such as phase transitions, dehydration, dehydroxylation or redox reactions involving intrinsic defects (O vacancies giving rise to F+ and F-type centers, Schottky and Frenkel defects), extrinsic defects (dopants) and structural defects (stacking fault defects, linear and planar defects or dislocations). TL glow curves can be analyzed despite the complexity by assuming that photon emission can be fitted to 1st order kinetics. The structural changes observed using thermal X-ray diffraction up to 200 °C indicate that the Miller indices (204) and (321) have only a reversible behavior in the range of 26-29° 2θ. Tests based on the TL also corroborate such reversibility.

Relevance of Distal Arterial Collapse in Stenting of Atherosclerotic Near-Occlusion of the Carotid Artery.

BACKGROUND AND PURPOSE: Carotid near-occlusion has been subclassified into near-occlusion with and without collapse. We aimed to compare the technical success and perioperative complication rates of carotid artery stent placement with special attention to these subtypes to see whether there is a clinical relevance of this subclassification. MATERIALS AND METHODS: From January 2014 to January 2018, we retrospectively evaluated all patients with atherosclerotic extracranial carotid stenosis treated by carotid artery stent placement. Patients with near-occlusion were identified based on DSA findings. Patient characteristics, the presence of criteria for near-occlusion and collapse, arterial diameters, technical success rate, and perioperative (≤30 days) complications were analyzed. RESULTS: We identified 59 near-occlusions in 58 (46 men, 11 with collapse) patients. Forty-one patients (70.7%) were symptomatic. Technical success rate was 98.3% (58 of 59 procedures). In 1 case of near-occlusion with collapse, we were not able to pass through the stenosis. Compared with patients without collapse (4.2% of 48 cases), those with collapse (30% of 10 stented patients) had significantly higher rates of postintervention hyperperfusion syndrome (P = .032). In the whole cohort, the permanent morbidity and mortality rate was 3.4% (1.7% permanent morbidity and 1.7% mortality). For asymptomatic and symptomatic near-occlusion groups, the rates were 0% and 4.9%, respectively. The composite risk of stroke, death, and myocardial infarction was similar between the groups with and without collapse (P = .682). Rate of hyperperfusion syndrome (with or without permanent deficit) was similar (P = 1) in preoperatively symptomatic patients versus asymptomatic patients (9.8% vs 5.9%). Internal carotid artery diameter consistently increased after carotid artery stent placement in patients with collapse and was not related to the development of hyperperfusion syndrome. CONCLUSIONS: Care should be taken to minimize hyperperfusion risk in patients with near-occlusion undergoing CAS, especially in the subgroup of patients with collapse and in patients with both symptomatic and asymptomatic carotid stenosis.

Placement of a Stent within a Flow Diverter Improves Aneurysm Occlusion Rates.

BACKGROUND AND PURPOSE: Placement of a stent within a flow diverter has been described previously but its consequences have not been analyzed. We evaluated the clinical and angiographic results of stent placement within a flow diverter during the same treatment session. MATERIALS AND METHODS: All patients treated with a Surpass flow diverter were retrospectively evaluated. Patients with previously deployed stents and procedures in which scaffolding stents, a second flow diverter, or intrasaccular devices were used were excluded. Patient and aneurysm characteristics and clinical and imaging follow-up results were compared between stented and nonstented Surpass flow-diverter groups and stent assisted coiling. RESULTS: Thirty-five patients (41 aneurysms) were treated with a Surpass flow diverter only (monotherapy group), and in 33 patients (35 aneurysms), a stent was placed within the Surpass flow diverter (stented group). Stents were placed inside the Surpass flow diverter for a variety of reasons at the operator's discretion. No statistical difference was noted between the 2 groups in age, body weight, sex, history of thromboembolic events, smoking, platelet inhibition levels, hypertension, hyperlipidemia, diabetes mellitus, malignancy, and aneurysm location. Aneurysms in the stented group were larger than those in the monotherapy group (14.8 versus 9.1 mm, P < .001). The rate of clinically significant adverse events and complete aneurysm occlusion rates at 0-3 and 3-6 months (73.3% versus 61.3%, P = .31, and 84.8% versus 70.2%, P = .14) were similar. At 9-12 months, a significantly higher proportion of aneurysms in the stented group achieved complete occlusion (93.9% versus 73.2%, P = .019). There was a trend toward a higher obliteration rate on final follow-up in the stented group (93.9% versus 82.9%, P = .14). CONCLUSIONS: Placement of a stent within a flow diverter increases the rate of aneurysm occlusion. We propose that these results are from improved flow-diverter apposition due to the higher radial force of intracranial stents.

The functional variants of endothelial nitric oxide synthase gene associated with rheumatoid arthritis in Turkish adults.

This study aimed to investigate whether functional variants of endothelial nitric oxide synthase (eNOS) gene play any role in rheumatoid arthritis (RA) ethiopathogenesis and treatment in the Turkish population. Because, eNOS variants are responsible for alteration of the NO level in plasma, by reducing/increasing the endothelial NO synthesis. In the study, two eNOS gene variants (G894T and intron 4 VNTR A/B) were examined at extracted DNAs from 65 peripheral blood cell of RA patients. For the control, blood samples obtained from 70 healthy persons were studied. Genotyping of molecular variants was performed by PCR-RFLP and/or PCR technique. The data obtained was compared in itself and response to therapy. We found that "TT genotypic frequency" for the G894T variant was significantly associated with RA with an overall risk of 8.3-fold (p 0.029). No association was identified between intron 4 VNTR A/B variant and RA. At the 6 months, the mean visual analog scale (VAS), health assessment questionnaire (HAQ), and disease activity score for 28 joints (DAS 28) improvement was not significant among groups. Improvement in DAS was significantly better in anti-TNF treatment than disease-modifying antirheumatic drugs (DMARD) treatment treated subgroup. We report for the first time that variants in the eNOS "TT" genotype might be contributed to the increased risk of RA in the Turkish population. These results imply that functional variants of eNOS gene might have an effect on RA patients and response to anti-TNF treatment. In addition, the results suggest that eNOS variants might be associated and affect host susceptibility and/or response to treatment in Turkish RA patients.

Effect of Cytokine Genes in the Pathogenesis and on the Clinical Parameters for the Treatment of Multiple Myeloma.

In this study, we aimed to explore the association among gene variants of five cytokines, tumor necrosis factor alpha (TNF-α), transforming growth factor beta-1 (TGF-ß1), interferon gamma (IFN-γ), interleukin-6 (IL-6), and interleukin-10 (IL-10), and clinical parameters and prognosis in patients with multiple myeloma (MM) treated with novel therapeutic drugs in Turkish population for the first time except TNF-α. We analyzed five cytokine genes in 113 cases with MM and 113 healthy controls. Cytokine genotyping was performed by the polymerase chain reaction-sequence-specific primer method (PCR-SSP). AG genotype associated with high expression in TNF-α gene (-308) variant was found to be significantly higher (p = 0.019), and GG genotype associated with low expression in TNF-α gene (-308) variant was significantly lower in MM group as compared with controls (p = 0.012). IFN-γ (+874) variant TT genotype was increased (p = 0.037), and AA genotype was decreased (p = 0.002) in MM group in contrast to controls. IFN-γ (+874) T allele was higher in MM patients compared with controls (OR = 1.985, p = 0.000), while A allele was significantly lower (OR = 0.5037, p = 0.0005). Multivariate analysis revealed that factors associated with 5-year overall survival (OS) were only IPI III (RR = 1.630, p = 0.018) and thrombocytopenia (RR = 2.207, Cox p = 0.021), while 5-year event-free survival (EFS) was associated with IPI III (RR = 1.524, p = 0.022), thrombocytopenia (RR = 2.902, p = 0.002), APSCT treatment (RR = 1.729, p = 0.035), and female gender (RR = 0.435, p = 0.002) with negative prognostic values. Our results suggested that TNF-α gene (-308) AG genotype and IFN-γ (+874) TT genotype and T allele may have a role on MM, while other cytokines were not associated with the risk of MM.

Effects of TNFα, NOS3, MDR1 Gene Polymorphisms on Clinical Parameters, Prognosis and Survival of Multiple Myeloma Cases.

It is not clear how gene polymorphisms affecting drugs can contributes totheir efficacy in multiple myeloma (MM). We here aimed to explore associations among gene polymorphisms of tumor necrosis factor alpha (TNFα), nitric oxide synthesis 3 (NOS3) and multi-drug resistance 1 (MDR1), clinical parameters, prognosis and survival in MM patients treated with VAD (vincristine-adriamycine-dexamethasone), MP (mephalane-prednisolone), autolougus stem cell transplantation (ASCT), BODEC (bortezomib-dexamethasone-cyclophosphamide) and TD (thalidomide-dexamethasone). We analyzed TNFα, NOS 3 and MDR1 in 77 patients with MM and 77 healthy controls. The genotyping was performed with PCR and/or PCR-RFLP. There was no clinically significant difference between MM and control groups when TNF α(-238) and (-857) and MDR1 gene polymorphisms were studied. However, the TNFαgene polymorphism (-308) GG genotype (p=0.012) and NOS3 (+894) TT genotype (p=0.008) were more common in the MM group compared to healthy controls. NOS3 (VNTR) AA (p=0.007) and NOS3 (+894) GG genotypes (p=0.004) were decreased in the MM group in contrast. In conclusion, the NOS3 (+894) TT and TNF α(-308) GG genotypes may have roles in myeloma pathogenesis.

microRNA profiling for early detection of nonmelanoma skin cancer.

BACKGROUND: microRNAs (miRNAs) are single-stranded, noncoding RNA molecules. Given the vast regulatory potential of miRNAs and their often tissue-specific and disease-specific expression patterns, miRNAs are being assessed as possible biomarkers to aid diagnosis and prediction of different types and stages of cancers, including skin cancer. Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most common forms of nonmelanoma skin cancer (NMSC). BCC originates from the basal layer of the epidermis, while SCC arises from epidermal keratinocytes or from the dermal appendages. Although NMSCs are currently the most common types of malignancies, both BCC and SCC have a better than 95% cure rate if detected early. AIM: To identify plasma miRNAs suitable for early detection of NMSC. METHODS: Expression profiles of 741 miRNAs were evaluated using high-throughput real-time quantitative PCR from plasma samples in 42 patients with NMSC and 282 healthy controls (HCs). RESULTS: Our results demonstrated that in patients with NMSC, compared with HCs, expression levels of miR-30e-3p, miR-145-5p, miR-186-5p and miR-875-5p were significantly (P < 0.05) upregulated, while those of miR-19a-3p, miR-25-3p, miR-30a-5p, miR-451 and miR-576-3p were significantly downregulated. CONCLUSION: Our study suggests that the miRNAs with significant changes in expression (miR-19a-3p, miR-25-3p, miR-30a-5p, miR-145-5p and miR-186-5p) could serve as novel noninvasive biomarkers for detection of NMSC.

Subcutaneous Adipose Tissue Type II Deiodinase Gene Expression Reduced in Obese Individuals with Metabolic Syndrome.

The present study aimed to evaluate the role of subcutaneous adipose tissue (SAT) type II deiodinase enzyme gene (DIO2) expression in developing metabolic syndrome (MetS). A total of 51 obese patients with MetS and without MetS and 13 healthy subjects enrolled in the study. Body mass index (BMI), waist circumference (WC), waist-to-hip circumference ratio (WHR), hip circumference, and systolic (SBP) and diastolic blood pressures (DBP) of all subjects were recorded. Fasting plasma glucose (FPG), fasting plasma insulin, high density lipoprotein- cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), total cholesterol (TC) and triglyceride (TG) of all subjects were analyzed. Expression of the DIO2 gene in adipose tissue was determined by reverse transcription polymerase chain reaction (qRT-PCR). BMI, WC and WHR were not significantly difference between obese with and without MetS. SBP, DBP, FPG and TG were significantly higher in obese with MetS group than obese without MetS group. While the free triiodothyronine (T3) level was in the normal range in all group, it was significantly lower in the obese with MetS than both obese without MetS and control group. DIO2 expression was significantly lower in the obese with MetS group compared to the control. In correlation analysis, DIO2 expression was negatively correlated with DBP, TG and homeostasis model assessment of insulin resistance (HOMA-IR) levels and positively correlated with free T3. In conclusion, the reduction of SAT DIO2 expression is negatively correlated with DBP and TG levels that are associated with the MetS. This might have an effect on developing MetS. We believe that DIO2 gene may be an important molecular target for future studies in developing targeted treatment options for obese people with MetS.

Relationship between the level of hippocampal leptin receptor gene expression and learning performance in diabetic rats.

Diabetes mellitus may be associated with impaired cognitive function. Decreased peripheral glucose regulation was associated with decreased general cognitive performance, memory impairments, and atrophy of the hippocampus, a brain area that is key for learning and memory. Leptin that is a peptide hormone, acts in the hippocampus where it facilitates the induction of long-term potentiation and enhances NMDA receptor mediated transmission. The aim of the present study is to investigate possible relationship between the hippocampal leptin receptor gene expression and learning performance in streptozotocin (STZ) induced diabetic rats. In this study was conducted on a total of 40 Winstar albino female rats, including a control group consisting of 20 rats and experimental group comprising of 20 rats in which diabetes was induced by means of STZ administration. Leptin receptor gene expression was detected in hippocampal samples by using real time-PCR. According to the evaluation, the learning performance of rats with induced diabetes was found to be same throughout the first 3 days after STZ in comparison to the control group rats. End of the 45 days the learning performance of the control group was found to be better than the diabetic group (p<0.05). Hipocampal leptin receptor expression was found lower in diabetic group than the control group (p<0.05). The results provide evidence that leptin receptor gene may related to learning performance in diabetic rats. Further, detailed studies are needed to address the exact role of leptin and related molecules in learning performance.

Circulating microRNA expression profiles in ovarian cancer.

MicroRNA (miRNA) is an abundant class of small non-coding RNAs that act as gene regulators. Recent studies have suggested that miRNA deregulation is associated with the initiation and progression of human cancer. However, information about ovarian cancer-related miRNA is mostly limited to tissue miRNA. The aim of this study was to find specific profiles of plasma-derived miRNAs of ovarian cancer. In this present study, the expression profiles of 740 miRNAs in plasma from 18 patients and 24 healthy women subjects were evaluated using microfluidic based multiplex qRT-PCR. Our results demonstrated that expression levels of eight miRNAs were significantly upregulated in patients with ovarian cancer when compared with a control group (p < 0.05). Expression levels of four miRNAs were found significantly downregulated in patients with ovarian cancer (p < 0.05). In addition, 10 miRNAs were expressed only in the ovarian cancer group and miR-138-5p of these miRNAs is ovarian specific. In conclusion, our study suggests that detecting these ovarian cancer specific miRNAs in plasma might serve as novel non-invasive biomarkers for ovarian cancer.

Hürthle cell presence alters the distribution and outcome of categories in the Bethesda system for reporting thyroid cytopathology.

OBJECTIVES: We aimed to determine whether the presence of Hürthle cells altered the distribution of categories in the Bethesda system for reporting thyroid cytopathology, or the expected neoplastic and malignant outcome. METHODS: Fine needle aspiration (FNA) cytology reports of Hürthle cells in a 2-year period were evaluated. The distribution of Bethesda system categories and the outcome at partial or complete thyroidectomy were compared for FNAs with and without Hürthle cells. RESULTS: Of 895 adequate FNAs with Hürthle cells, 764 (85.4%) were classified as benign, 86 (9.6%) as atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS), 32 (3.6%) as follicular neoplasm/suspicious for follicular neoplasm (FN/SFN), 12 (1.3%) as suspicious for malignancy (SFM) and one (0.1%) as malignant. Of 10 359 adequate FNAs without Hürthle cells, 9707 (93.7%) were classified as benign, 412 (4.0%) as AUS/FLUS, 77 (0.7%) as FN/SFN, 93 (0.9%) as SFM and 70 (0.7%) as malignant. The distribution of categories in FNAs with and without Hürthle cells was significantly different (P < 0.001) as a result of a decrease in benign and an increase in AUS/FLUS and FN/SFN categories. Among 128 patients with and 582 without Hürthle cells undergoing surgery, the overall neoplastic and malignancy rates were higher in the former than in the latter group (27.3% versus 14.9%, P < 0.001; 21.1% versus 11.7%, P = 0.003; respectively). Although neoplastic and malignant rates were higher in the group with than without Hürthle cells in all categories, the differences were only significant for a neoplastic outcome of benign cytology (15.1% versus 6.0%, P = 0.0013) and a malignant outcome of FN/SFN cytology (63.6% versus 21.9%, P = 0.0108). CONCLUSIONS: We found that the rates of AUS/FLUS and FN/SFN categories in the Bethesda system were higher when Hürthle cells were present. After surgery, neoplastic and malignant outcomes were significantly higher in the Hürthle cell group.

Selective cerebral perfusion with aortic cannulation and short-term hypothermic circulatory arrest in aortic arch reconstruction.

BACKGROUND: The deep hypothermic circulatory arrest (DHCA) technique has been used in aortic arch and isthmus hypoplasia for many years. However, with the demonstration of the deleterious effects of prolonged DHCA, selective cerebral perfusion (SCP) has started to be used in aortic arch repair. For SCP, perfusion via the innominate artery route is generally preferred (either direct innominate artery cannulation or re-routing of the cannula in the aorta is used). Herein, we describe our technique and the result of arch reconstruction in combination with selective cerebral and myocardial perfusion (SCMP) and short-term total circulatory arrest (TCA) (5-10 min) through ascending aortic cannulation. METHODS: Thirty-seven cases with aortic arch and isthmus hypoplasia accompanying cardiac defects were operated on with SCMP and short TCA in Baskent University Istanbul Research and Training Hospital between January 2007 and Sep 2012. There were 17 cases with ventricular septal defect (VSD)-coarctation with aortic arch hypoplasia (CoAAH), 4 cases of transposition of the great arteries-VSD-CoAAH, 4 cases of Taussing Bing Anomaly-CoAAH, 2 cases complete atrioventricular canal defect-CoAAH, 3 cases single ventricle-CoAAH, 3 cases of type A interruption-VSD, 2 subvalvular aortic stenosis-CoAAH and 2 cases of isolated CoAAH. The aorta was cannulated in the middle of the ascending aorta in all cases. The cross-clamp was applied to the aortic arch distal to either the innominate artery or the left carotid artery. In addition, a side-biting clamp was applied to the descending aorta. The aorta between these two clamps was reconstructed with gluteraldehyde-treated autogeneous pericardium, using SCMP. The proximal arch and distal ascending aorta reconstructions were carried out under short TCA. RESULTS: The mean age of the patients was 2.5 ± 2 months. The mean cardiopulmonary bypass and cross-clamp times were 144 ± 58 and 43 ± 27 minutes, respectively. The mean SCMP and descending aorta ischemia times were 22.6 ± 4.8 and 27 ± 6.3 minutes, respectively. Mean TCA time was 7.6 ± 2.1 minutes (min: 4, max 10 min). The mean in-hospital stay time was 8.6 ± 1.9 days. None of the cases operated with this technique had neurological defects. The mortality rate was 2.7% (1 patient). CONCLUSION: SCMP with aortic cannulation and short TCA (under 10 minutes) in aortic reconstruction is safe and practical in this high-risk patient group.

Follow-up of atypia and follicular lesions of undetermined significance in thyroid fine needle aspiration cytology.

OBJECTIVE: To report our experience of atypia of undetermined significance (AUS)/follicular lesion of undetermined significance (FLUS) rate and outcome. METHODS: Among 7658 patients with 19 569 nodules, 524 (2.7%) nodules were diagnosed as AUS/FLUS on fine needle aspiration (FNA). After exclusion of patients with simultaneous nodules that were suspicious for follicular neoplasm or malignancy or that were malignant, 368 (4.8%) patients were diagnosed as AUS/FLUS. The outcome of 146 patients who had undergone surgery or repeated fine needle aspirate at the time of preparation of this study was evaluated. The original FNAs were matched to repeated FNAs and thyroidectomy or diagnostic lobectomy specimens. RESULTS: Seventy-two (19.6%) of the 368 patients had directly undergone surgery, either a lobectomy or a thyroidectomy: of these, 27 (37.5%) had neoplastic nodules (21 were malignant). Seventy-four (20.1%) of the 368 patients had repeat FNA. On second FNA, 47 of 74 (63.5%) were benign, three were suspicious for follicular neoplasm, one was malignant and 23 (31.1%) were non-diagnostic. Four patients had a third FNA: two were AUS/FLUS, one was malignant and one non-diagnostic. One patient had a fourth FNA, which was diagnosed as AUS/FLUS. Sixteen (21.6%) of 74 patients with repeat FNA had surgery: three of these had neoplastic nodules (two were malignant). Overall, 88 of the 368 (23.9%) patients had a thyroidectomy of which 30 (34.1%) were neoplastic and 23 (26.1%) malignant. The neoplastic rate for patients who were once diagnosed with AUS/FLUS was 8.2% and the malignancy rate 6.3%. The malignancy rate for patients on follow-up at the time we prepared the study was 15.7% (23/146); 222 remained on follow-up without surgery or repeat FNA or were managed elsewhere. CONCLUSIONS: Although in this category repeat FNA is expected rather than excision, we suggest evaluation of all AUS/FLUS patients in multidisciplinary meetings to decide management and recommend follow-up of all patients with this diagnosis.

Effects of CoQ10 supplementation and swimming training on exhaustive exercise-induced oxidative stress in rat heart.

This study examined the combined effects of swimming training and coenzyme Q10 (CoQ10) supplementation on exhaustive exercise-induced oxidative stress in rat heart. The study was carried out with 4-month-old young adult male Wistar rats. Sixty four rats were divided mainly into two groups: trained and control. Each group was further divided into four subgroups: rest, exhausted, rest with CoQ10, exhausted with CoQ10. The training program consisted of swimming one hour each day, five days a week, for six weeks. At the end of sixth week, rats in exhausted exercise group were forced to swim until exhaustion and then they were immediately sacrificed, while rats in rest group were sacrificed at rest. Training alone or in combination with CoQ10 supplementation reduced to increasing MDA levels due to exhaustive exercise in rat heart (p<0.05). The trained-rest with CoQ10 group showed lower 8-OHdG levels than the control-rest with CoQ10 group. Exhaustive exercise effect was significant on SOD activity. Exhaustive exercise increased GSH levels in control groups while decreased GSH levels in training groups (p<0.05). In conclusion, the results suggest that CoQ10 supplementation combined with training may inhibit lipid peroxidation and DNA damage in the heart tissue. Also, it can be said that SOD activity and GSH levels were not influenced by CoQ10 supplementation (Fig. 4, Tab. 1, Ref. 69).

Effects of treatment with coenzyme Q10 on exercised rat aorta.

In this study, the effect of long-term supplementation of coenzyme Q10 (CoQ10) on the responses of swim-trained rat aorta was investigated. Twenty-four adult male Wistar rats were divided into four groups: untrained, trained, untrained+CoQ10, and trained+CoQ10 group. In the trained groups rats swam for 60 min/day, five days/week for six weeks. The CoQ10 supplements were administered by intraperitoneal injection at a daily dose of 10 mg·kg-1 of body weight five days/week for six weeks. Swimming of the rats was performed in a container containing tap water. Rats were sacrificed and thoracic aortas were removed for ex vivo analysis after the last swimming session. The aortas were cut into rings 2.5 mm in length. Concentration-response curves for phenylephrine (PHE, 10-9-3×10-4 M) and potassium chloride (KCl, 5-100 mM) were isometrically recorded. The sensitivity and maximal responses to PHE and KCl of aortic rings obtained from trained rats were lower than those of untrained rats. CoQ10 supplementation decreased the responses to both vasoconstrictors in untrained and especially in trained groups. Although neither CoQ10 nor training did affect malondialdehyde (MDA) and protein carbonyl (PC) levels, creatine kinase (CK) activity decreased and superoxide dismutase (SOD) activity increased only with exercise training. Glutathione (GSH) levels increased in CoQ10 supplemented-untrained rats. In conclusion, our results suggest that CoQ10 supplementation may have beneficial effects during exercise.

Autosomal dominant aplasia cutis in three generations and one case with preaxial polydactyly in the last generation.

Aplasia Cutis Congenita (ACC), characterized by the focal absence of the skin and skin adnexia resulting from a developmental failure, may occur as part of Adams-Oliver Syndrome (AOS) which can be defined as a congenital inherited disorder, consisting of terminal transverse limb defects and vascular anomalies in addition to ACC. Coexistence of isolated preaxial polydactyly without terminal extremity defect and ACC is extremely rare. Furthermore, ACC and preaxial polydactyly has not been reported previously. Here we report a three-generation family with autosomal dominant aplasia cutis congenita and preaxial polydactyly in the last generation and discuss whether it is a coincidence or not.

Investigation of TNF-alpha, TGF-beta 1, IL-10, IL-6, IFN-gamma, MBL, GPIA, and IL1A gene polymorphisms in patients with idiopathic thrombocytopenic purpura.

Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by the presence of autoantibodies developing against thrombocyte membrane glycoproteins (GPs), such as GPIIa/IIIa and GPIb/IX. Single nucleotide polymorphisms (SNPs) of inflammatory cytokine genes were investigated in 71 patients with chronic ITP and 71 healthy controls, and they were compared with the clinical parameters. The polymorphisms in the SNPs were investigated with the polymerase chain reaction, polymerase chain reaction with sequence specific primer, and polymerase chain reaction-restriction fragment length polymorphism methods. It was found that the high expression of TNF-alpha (-308) AG phenotype significantly increased in cases with ITP (odds ratio, OR: 0.318, 95% confidence intervals, CI: 0.103-0.987, p < 0.05). TT genotype in TGF-beta 1 (codon 10) significantly decreased in ITP in comparison with the controls (OR: 0.342, 95% CI: 0.149-0.787, p = 0.016). IFN-gamma (+874) TT genotype was detected to be high in cases with ITP (OR: 3.301, 95% CI: 1.400-7.784, p < 0.05), whereas AA genotype was found to be significantly lower (OR: 4.993, 95% CI: 1.586-15.721, p < 0.05). MBL (codon 54) BB genotype (OR: 1.164, 95% CI: 1.059-1.279, p < 0.05) and IL1A A1/A2 genotype (OR: 0.249, 95% CI: 0.076-0.815, p < 0.05) were found to be significantly higher in cases with ITP than in healthy controls. TNF-alpha (-308) AG phenotype was detected to be significantly higher in steroid-refractory and splenectomized cases at the end of the first year than in the steroid-responsive (complete response (CR) and remission (R)) cases (OR: 4.137, 95% CI: 1.156-14.807, p < 0.05). When we compared the cases, from whom we obtained a CR at their first steroid response, with 12 cases, who entered R but from whom we could not obtain any CR, the frequencies of IFN-gamma (+874) AA genotype were found as 12 (20.3%) and 6 (50%) (OR: 0.082, 95% CI: 0.009-0.793, p < 0.05). MBL (codon 54) AB genotype was detected to be significantly higher in CR patients than in R cases (OR: 1.273, 95% CI: 1.110-1.459, p < 0.05). With these findings, it was found that TNF-alpha/AG, TGF-beta 1/TT, IFN-gamma/TT, MBL/BB, and IL-1RA A1/A2 genotypes were detected as the genes of susceptibility to ITP, while TNF-alpha/AG, IFN-gamma/AA, and MBL/AB genotypes might be important in response to steroid treatment.

Gated myocardial perfusion scintigraphy in children with sickle cell anemia: correlation with echocardiography.

OBJECTIVES: The heart is one of the organs affected by sickle cell anemia (SCA). This prospective study has aimed to evaluate myocardial perfusion and left ventricle (LV) function in children with SCA by gated myocardial perfusion scintigraphy (G-MPS) and to compare the results with echocardiographic parameters. METHODS: Forty-three patients with SCA were evaluated by G-MPS and echocardiography. Myocardial perfusion and motion with thickening function were analyzed both visually and quantitatively. End-diastolic (EDV), end-systolic volumes (ESV), ejection fraction (EF), lung-to-heart (L/H) ratio were also calculated. RESULTS: None of the patients showed stress perfusion impairment in G-MPS. LV dilatation in 15 patients was observed both by G-MPS and echocardiography. EF values were within normal limits. Correlation between EF values calculated by two methods was not statistically significant. However, LV dilatation detected by both methods and EDV-ESV values in G-MPS were correlated to end-diastolic and end-systolic diameters calculated in echocardiography (p<0.05). M-Mode echocardiography revealed higher myocardial performance index (LV-MPI) in patients with LV dilatation. There was also a significant relationship between LV dilatation and frequent blood transfusions (>5/years) and acute chest syndrome (p<0.05). CONCLUSION: Myocardial perfusion impairment in children with SCA is not frequently observed. Thus, performing the scintigraphy only in patients with cardiac symptoms should be considered. Since EF values of the children with SCA are not deteriorated in early stages, LV-MPI and LV dilatation should be considered as a significant parameter other than EF or perfusion data.

Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth.

13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance and various congenital malformations. In this article, we present a new case with 13q deletion syndrome phenotypically characterized by fish mouth, choanal atresia and severe mental and motor retardation. In order to determine the certain localization of deleted region high resolution multicolor-banding technique was performed and the karyotype determined as 46,XX,del(13)(q32q33.2). To come in future to a genotype-phenotype correlation, it is very important to delineate the deleted region in such cases in detail by cytogenetic/ molecular cytogenetic methods.

Short duration exhaustive running exercise does not modify lipid hydroperoxide, glutathione peroxidase and catalase.

AIM: Oxidative stress occurs only when exercise is exhaustive and is independent of the absolute duration of exercise. In this study the effects of short duration (03:50 +/- 00:06 min) high-intensity exhaustive exercise on lipid peroxidation and antioxidant status were examined. METHODS: A total of thirty-seven male university students (23.9+/-0.6 years old) participated in this study. None was involved in a regular training program before the study. Intensities of exercises were determined according to the maximum slope and speed they could run in Bruce Test Protocol which is used for determining V.O2max of the participants. Just before and after the high intensity exhaustive running exercise test, venous blood was collected and centrifuged to separate the plasma. RESULTS: Lipid hydroperoxides (LOOH) did not change, glutathione peroxidase (GPx) decreased (2%) and catalase (CAT) increased (13%) at the pre and post exhaustive exercise test. These changes were not statistically significant (P>0.05). On the other hand, lactate dehydrogenase (LDH) levels significantly increased (31%) (P< 0.001). CONCLUSION: As a result, it may be claimed that short duration exhaustive exercise test produced no important changes in LOOH, GPx and CAT levels. And exhaustive exercise-induced oxidative stress may be related with exercise duration.