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Diabetic retinopathy (DR) is a major complication of diabetes worldwide, significantly causing vision loss and blindness in working-age adults, and imposing a substantial socioeconomic burden globally. This review examines the crucial role of genetic factors in the development of DR and highlights the shift toward personalized treatment approaches. Advances in genetic research have identified specific genes and variations involved in angiogenesis, inflammation, and oxidative stress that increase DR susceptibility. Understanding these genetic markers enables early identification of at-risk individuals and the creation of personalized treatment plans. Incorporating these genetic insights, healthcare providers can develop early intervention strategies and tailored treatment plans to improve patient outcomes and minimize side effects. This review emphasizes the transformative potential of integrating genetic information into clinical practice, marking a paradigm shift in DR management and advancing toward a more personalized and effective healthcare model. [ABSTRACT FROM AUTHOR]

Simple Summary: Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive ovarian cancer with a poor prognosis, and information on adequate treatment for this cancer is lacking. However, since the discovery of mutations in the SMARCA4 gene in 2014, SCCOHT has become the subject of extensive investigation. With this systematic review, we aim to generate an overview of all reported patients with SCCOHT from 1990 onwards, describing the clinical presentation, genetic characteristics, treatment, and outcome. Harmonization and international collaboration to obtain high-quality data on diagnostic investigations, treatment, and outcome are warranted to be able to develop international treatment guidelines to improve the survival chances of young women with SCCOHT. Background: Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare aggressive ovarian malignancy mainly affecting children, adolescents, and young adults. Since the discovery of mutations in the SMARCA4 gene in 2014, SCCOHT has become the subject of extensive investigation. However, international uniform treatment guidelines for SCCOHT are lacking and the outcome remains poor. The aim of this systematic review is to generate an overview of all reported patients with SCCOHT from 1990 onwards, describing the clinical presentation, genetic characteristics, treatment, and outcome. Methods: A systematic search was performed in the databases Embase, Medline, Web of Science, and Cochrane for studies that focus on SCCOHT. Patient characteristics and treatment data were extracted from the included studies. Survival was estimated using Kaplan–Meier's methodology. To assess the difference between survival, the log-rank test was used. To quantify the effect of the FIGO stage, the Cox proportional hazard regression model was estimated. The chi-squared test was used to study the association between the FIGO stage and the surgical procedures. Results: Sixty-seven studies describing a total of 306 patients were included. The median patient age was 25 years (range 1–60 years). The patients mostly presented with non-specific symptoms such as abdominal pain and sometimes showed hypercalcemia and elevated CA-125. A great diversity in the diagnostic work-up and therapeutic approaches was reported. The chemotherapy regimens were very diverse, all containing a platinum-based (cisplatin or carboplatin) backbone. Survival was strongly associated with the FIGO stage at diagnosis. Conclusions: SCCOHT is a rare and aggressive ovarian cancer, with a poor prognosis, and information on adequate treatment for this cancer is lacking. The testing of mutations in SMARCA4 is crucial for an accurate diagnosis and may lead to new treatment options. Harmonization and international collaboration to obtain high-quality data on diagnostic investigations, treatment, and outcome are warranted to be able to develop international treatment guidelines to improve the survival chances of young women with SCCOHT. [ABSTRACT FROM AUTHOR]

Background: Diabetes mellitus is one of the most common chronic diseases in childhood. With more advanced care options including ever-evolving technology, allocation of resources becomes increasingly important to guarantee equal care for all. Therefore, we investigated healthcare resource utilization, hospital costs, and its determinants in Dutch children with diabetes. Methods: We conducted a retrospective, observational analysis with hospital claims data of 5,474 children with diabetes mellitus treated in 64 hospitals across the Netherlands between 2019–2020. Results: Total hospital costs were €33,002,652 per year, and most of these costs were diabetes-associated (€28,151,381; 85.3%). Mean annual diabetes costs were €5,143 per child, and treatment-related costs determined 61.8%. Diabetes technology significantly increased yearly diabetes costs compared to no technology: insulin pumps € 4,759 (28.7% of children), Real-Time Continuous Glucose Monitoring € 7,259 (2.1% of children), and the combination of these treatment modalities € 9,579 (27.3% of children). Technology use increased treatment costs significantly (5.9 – 15.3 times), but lower all-cause hospitalisation rates were observed. In all age groups, diabetes technology use influenced healthcare consumption, yet in adolescence usage decreased and consumption patterns changed. Conclusions: These findings suggest that contemporary hospital costs of children with diabetes of all ages are driven primarily by the treatment of diabetes, with technology use as an important additive factor. The expected rise in technology use in the near future underlines the importance of insight into resource use and cost-effectiveness studies to evaluate if improved outcomes balance out these short-term costs of modern technology. [ABSTRACT FROM AUTHOR]

Objective. Using continuous glucose monitoring (CGM), we examined patterns in glycemia during school hours for children with type 1 diabetes, exploring differences between school and nonschool time. Methods. We conducted a retrospective analysis of CGM metrics in children 7–12 years (n = 217, diabetes duration 3.5 ± 2.5 years, hemoglobin A1c 7.5 ± 0.8%). Metrics were obtained for weekday school hours (8 AM to 3 PM) during four weeks in fall 2019. Two comparison settings included weekend (fall 2019) and weekday (spring 2020) data when children had transitioned to virtual school due to COVID-19. We used multilevel mixed models to examine factors associated with time in range (TIR) and compare glycemia between in-school, weekends, and virtual school. Results. Though CGM metrics were clinically similar across settings, TIR was statistically higher, and time above range (TAR), mean glucose, and standard deviation (SD) were lower, for weekends and virtual school (p < 0.001). Hour and setting exhibited a significant interaction for several metrics (p < 0.001). TIR in-school improved from a mean of 40.9% at the start of the school day to 58.0% later in school, with a corresponding decrease in TAR. TIR decreased on weekends (60.8 to 50.7%) and virtual school (62.2 to 47.8%) during the same interval. Mean glucose exhibited a similar pattern, though there was little change in SD. Younger age (p = 0.006), lower hemoglobin A1c (p < 0.001), and insulin pump use (p = 0.02) were associated with higher TIR in-school. Conclusion. Although TIR was higher for weekends and virtual school, glycemic metrics improve while in-school, possibly related to beneficial school day routines. Keywords: type 1 diabetes, school health, continuous glucose monitoring, time in range, glycemic control. [ABSTRACT FROM AUTHOR]

Introduction: Perceived age is defined as how old a person looks to external evaluators. It reflects the underlying biological age, which is a measure based on physical and physiological parameters reflecting a person's aging process more accurately than chronological age. People with a higher biological age have shorter lives compared to those with a lower biological age with the same chronological age. Our review aims to find whether increased perceived age is a risk factor for overall mortality risk or comorbidities. Methods: A literature search of three databases was conducted following the PRISMA guidelines for studies analyzing perceived age or isolated facial characteristics of old age and their relationship to mortality risk or comorbidity outcomes. Data on the number of patients, type and characteristics of evaluation methods, evaluator characteristics, mean chronologic age, facial characteristics studied, measured outcomes, and study results were collected. Results: Out of 977 studies, 15 fulfilled the inclusion criteria. These studies found an increase in mortality risk of 6–51% in older-looking people compared to controls (HR 1.06–1.51, p < 0.05). In addition, perceived age and some facial characteristics of old age were also associated with cardiovascular risk and myocardial infarction, cognitive function, bone mineral density, and chronic obstructive pulmonary disease (COPD). Conclusion: Perceived age promises to be a clinically useful predictor of overall mortality and cardiovascular, pulmonary, cognitive, and osseous comorbidities. Level of Evidence III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266. [ABSTRACT FROM AUTHOR]

Background and Objectives: In the development of type 2 diabetes mellitus (T2DM) and its complications, genetic and environmental factors play important roles. Diabetic nephropathy (DN), one of the major microangiopathic chronic diabetic complications, is associated with an increased risk of major cardiovascular events and all-cause mortality. The present study was designed to investigate the possible modifying effect of glutathione transferase polymorphisms (GSTM1, GSTT1, GSTP1 rs1138272/rs1695, GSTO1 rs4925 and GSTO2 rs156697) in the susceptibility to T2DM and diabetic nephropathy. Materials and Methods: GSTM1 and GSTT1 deletion polymorphisms were determined by multiplex PCR, whereas GSTO1, GSTO2, and GSTP1 polymorphisms were determined by the real-time PCR in 160 T2DM patients and 248 age- and gender-matched controls. Advanced glycation end products (AGEs) were measured by ELISA. Results: Among six investigated GST polymorphisms, a significant association between the GST genotypes and susceptibility for development of diabetes mellitus was found for the GSTM1, GSTT1, GSTP1 (rs1138272) and GSTO1 polymorphisms. When the GST genotypes' distribution in diabetes patients was assessed in the subgroups with and without diabetic nephropathy, a significant association was found only for the GSTO2 rs156697 polymorphism. Diabetic patients, carriers of the GSTM1 null, GSTT1 null and variant GSTO1*AA genotypes, had significantly increased levels of AGEs in comparison with carriers of the GSTM1 active, GSTT1 active and referent GSTO1*CC genotypes (p < 0.001, p < 0.001, p = 0.004, respectively). Conclusions: The present study supports the hypothesis that GST polymorphisms modulate the risk of diabetes and diabetic nephropathy and influence the AGEs concentration, suggesting the potential regulatory role of these enzymes in redox homeostasis disturbances. [ABSTRACT FROM AUTHOR]

A semi-automated diffusion-dialysis purification procedure is proposed for the preparation of uncontaminated graphene oxide (GO) aqueous dispersions. The purification process is integrated with analytical-signal processing to control the purification degree online by several channels: oxidation-reduction potential, conductivity, and absorbance. This approach reduces the amounts of reagents for chemical treatment during dialysis. The total transition metal (Mn and Ti) content was reduced to a sub-ppb level (assessed by slurry nebulization in inductively coupled plasma optical atomic emission spectroscopy). Purified aqueous GO samples possess good stability for about a year with a zeta-potential of ca. −40 mV and a lateral size of ca. sub-µm. Purified GO samples showed increased antioxidant properties (up to five times compared to initial samples according to chemiluminometry by superoxide-radical (O2−) generated in situ from xanthine and xanthine oxidase with the lucigenin probe) and significantly decreased peroxidase-like activity (assessed by the H2O2–L-012 system). [ABSTRACT FROM AUTHOR]

Introduction: An imbalance between reactive oxygen species (ROS) generation and the defence mechanisms underlying the activity of antioxidant enzymes has been demonstrated as the leading pathology in diabetes mellitus (DM)-related microvascular complications. Purpose: This study aims to evaluate the association between polymorphisms in antioxidant enzyme-encoding genes: catalase (CAT); manganese superoxide dismutase (Mn-SOD); glutathione S transferase M1 (GSTM1); and GSTT1 glutathione S transferase T1 (GSTT1), and the risk of type II diabetic nephropathy (DN) in the Saudi population. Patients and Methods: The present study involved 64 type II DM patients with nephropathy and 64 type II diabetes patients without nephropathy from the King Abdulaziz University (KAU) Hospital. They underwent real-time PCR genotyping for the Mn-SOD and CAT genes. Multiplex PCR was used to detect GSTM1- and GSTT1-null polymorphisms. Results: A statistically significant difference was observed between the case and control groups with regard to polymorphisms in the CAT gene (P = 0.037), but not for polymorphisms in the Mn-SOD (P = 0.64) gene. In addition, a statistically significant association was observed between null polymorphisms of the GSTT1 and GSTM1 genes and DN in the case and control groups (P = 0.046 and P = 0.035, respectively). Conclusion: Our results showed that the genetic ability to combat oxidative stress may play a major role in DN pathogenesis in Saudi type II DM patients. These polymorphisms in antioxidant enzyme-encoding genes could be used as independent genetic markers for the construction of risk prediction models for kidney-related complications in type II DM patients. [ABSTRACT FROM AUTHOR]

Purpose Of Review: Continuous glucose monitors (CGM) are transforming diabetes management, yet adolescents and young adults (AYA) with type 1 diabetes (T1D) do not experience the same benefits seen with CGM use in adults. The purpose of this review is to explore advances, challenges, and the financial impact of CGM use in AYA with T1D.Recent Findings: CGM studies in young adults highlight challenges and suggest unique barriers to CGM use in this population. Recent studies also demonstrate differences in CGM use related to race and ethnicity, raising questions about potential bias and emphasizing the importance of patient-provider communication. Cost of these devices remains a significant barrier, especially in countries without nationalized reimbursement of CGM. More research is needed to understand and address the differences in CGM utilization and to increase the accessibility of CGM therapy given the significant potential benefits of CGM in this high-risk group. [ABSTRACT FROM AUTHOR]

Aims: The aims of this study are to evaluate any differences in the Quality of life among Continuous Subcutaneous Insulin Infusion (CSII) and Multiple Dose Injection (MDI) insulin delivery, applying the Diabetes Quality of life Brief Clinical Inventory (DQoL-BCI) questionnaire, and assess the diabetes management strategies between the two groups. Methods: One hundred and ten adult participants (male/female ratio 1:2.7) with type 1 diabetes were recruited in this online survey. Forty-eight of them were using CSII and the rest 62 (were using) MDI insulin delivery. A 23-item socio-demographic/diabetes management strategies questionnaire and the 15-item DQoL-BCI were administered. Results: CSII users scored statistically, significantly better at the satisfaction treatment subscale (p = 0.032) of the DQoL-BCI and emerged that they were implemented more management strategies such as dietician guidance services (p = 0.002), carbohydrate education seminars (p = 0.03). Predictive factors were also detected regarding the HbA1c < 7% (53 mmol/mol) and β-coefficients in relation to DQoL-BCI questionnaire with the subscales of a negative impact and satisfaction treatment. Conclusion: Diabetes self-management education plays a key role to a better compliance with the treatment. Client-centered multidisciplinary centers in T1DM education are essential so that they be applicable for all T1DM patients irrespective of the type of insulin delivery they used. [ABSTRACT FROM AUTHOR]

Copyright of Arheološki Vestnik is the property of Scientific Research Centre of Slovenian Academy of Sciences & Arts and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Elevated mitochondrial matrix superoxide and/or hydrogen peroxide concentrations drive a wide range of physiological responses and pathologies. Concentrations of superoxide and hydrogen peroxide in the mitochondrial matrix are set mainly by rates of production, the activities of superoxide dismutase-2 (SOD2) and peroxiredoxin-3 (PRDX3), and by diffusion of hydrogen peroxide to the cytosol. These considerations can be used to generate criteria for assessing whether changes in matrix superoxide or hydrogen peroxide are both necessary and sufficient to drive redox signaling and pathology: is a phenotype affected by suppressing superoxide and hydrogen peroxide production; by manipulating the levels of SOD2, PRDX3 or mitochondria-targeted catalase; and by adding mitochondria-targeted SOD/catalase mimetics or mitochondria-targeted antioxidants? Is the pathology associated with variants in SOD2 and PRDX3 genes? Filtering the large literature on mitochondrial redox signaling using these criteria highlights considerable evidence that mitochondrial superoxide and hydrogen peroxide drive physiological responses involved in cellular stress management, including apoptosis, autophagy, propagation of endoplasmic reticulum stress, cellular senescence, HIF1α signaling, and immune responses. They also affect cell proliferation, migration, differentiation, and the cell cycle. Filtering the huge literature on pathologies highlights strong experimental evidence that 30-40 pathologies may be driven by mitochondrial matrix superoxide or hydrogen peroxide. These can be grouped into overlapping and interacting categories: metabolic, cardiovascular, inflammatory, and neurological diseases; cancer; ischemia/reperfusion injury; aging and its diseases; external insults, and genetic diseases. Understanding the involvement of mitochondrial matrix superoxide and hydrogen peroxide concentrations in these diseases can facilitate the rational development of appropriate therapies. [ABSTRACT FROM AUTHOR]

A novel nanocomposite-modified electrode based on reduced graphene oxide (rGO) decorated with 18-crown-6 (Cr.6) and gold nanoparticles (GNPs) on the surface of a glassy carbon electrode (GCE) was successfully fabricated to investigate the electrochemical sensing of the biomarker L-tryptophan (L-Trp) in the presence of dopamine (DA), ascorbic acid (AA), urea, and glucose. The rGO-GNPs-Cr.6/GCE displayed high electrochemical catalytic activity for L-Trp determination using square-wave voltammetry (SWV). The electrochemical behavior of L-Trp at the rGO-GNPs-Cr.6/GCE displayed higher oxidation current and potential (oxidation peak current of 40 μA at 0.85 V) than rGO-GNPs/GCE, Cr.6/GCE, GNPs/GCE, rGO/GCE, and bare GCE. The SWV demonstrated a linear range of L-Trp concentration from 0.1 to 2.5 μM. A low limit of detection (LOD) was found for L-Trp, with LOD of about 0.48 μM and 0.61 μM in diabetic and normal serum, respectively. The fabricated sensor demonstrated high selectivity and sensitivity, and good stability and reproducibility for L-Trp sensing. Finally, the nanocomposite (rGO-GNPs-Cr.6)-modified GCE was applied for the determination of L-Trp in normal and diabetic human serum samples, and displayed excellent LOD and recoveries higher than 91.8%. [ABSTRACT FROM AUTHOR]

Aim: To determine factors influencing the success of treatment for type 1 diabetes, defined as HbA1c < 58 mmol/mol (<7.5%), in a large paediatric cohort under real‐life conditions. Methods: This is a monocentric observational study analysing the determinants of glycaemic outcome (sex, age, comorbidities, sociodemographic factors, diabetes technology) in an entire cohort of people with diabetes aged up to 21 years. Glycaemic outcome was defined as an individual's median HbA1c and the prevalence of acute complications over this period. Results: Of 700 young people with type 1 diabetes [age 13.6 years (range: 1.4–20.9 years); diabetes duration 5.8 years (range: 0.1–18.3 years)], 63% were using an insulin pump and 32% any type of continuous glucose monitoring. Mean HbA1c was 61 mmol/mol [95% confidence interval (CI) 60–62; 7.7%, 95% CI 7.5–7.8]. Some 63% of children aged < 12 years reached HbA1c (58 mmol/mol (<7.5%) compared with 43% of older participants. The prevalence of severe hypoglycaemia was 2.41 events and that of diabetic ketoacidosis 1.4 events per 100 person‐years. Neither type of insulin therapy nor use of continuous glucose monitoring, sex or comorbidity with coeliac disease or thyroiditis was significantly associated with glycaemic outcome. However, age, diabetes duration, having a father not born in Germany, psychiatric comorbidities and family structure were associated with HbA1c. Conclusions: Current technologies and a multidisciplinary team approach allow high numbers of children and adolescents to realize tight glycaemic control with a low prevalence of acute complications. However, age‐related challenges, sociodemographic factors and psychological comorbidities are barriers to achieving best possible glycaemic outcome. What's new?: Several non‐medical factors such as overburdened parents and adolescents, cultural and sociodemographic characteristics, and psychosocial risks influence self‐management behaviour and thus treatment success in paediatric diabetes.Use of modern technology alone is not sufficient to optimize glycaemic outcomes.The implementation and use of technology needs to be discussed critically and tailored to the family's situation and coping capacity.Even with new technologies, diabetes management plans need to be individualized and focused on the family's strengths, barriers and psychosocial limitations. [ABSTRACT FROM AUTHOR]

Antioxidant enzymes can contribute to disease susceptibility or determine response to therapy in individuals with malaria. Genetic variations due to polymorphisms in host genes encoding antioxidant enzymes such as glutathione S-transferases-theta, mu, pi ( GSTT, GSTM, GSTP), superoxide dismutases ( SOD) and catalase ( CAT), may therefore, influence inter-individual response to malaria pathology and propensity of infection caused by Plasmodium vivax ( Pv) and Plasmodium falciparum ( Pf). Therefore, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing, we investigated the association of deletions of GSTT1 and GSTM1, single nucleotide polymorphisms (SNPs) of GSTP1 (rs1695), SOD1 (rs2234694), SOD2 (rs4880, rs1141718), SOD3 (rs2536512) and CAT (rs1001179) in individuals infected with Pf ( n = 100) and Pv ( n = 100) against healthy controls ( n = 150). Our data suggest a significant role for GSTM1 deletions in complicated Pv ( p = 0.0007) malaria with ODDs ratio 3.8 [with 95 % confidence interval (CI) 1.9-7.4]. The results also indicated that polymorphisms present in GSTP1, SOD1 and CAT genes may be associated with malaria susceptibility ( p < 0.05), whereas SOD3 polymorphism may play a role in malarial resistance ( p < 0.05). In addition, we observed significant SNP-SNP interactions with synergistic genetic effects in SOD2, SOD3 and CAT genes for Pv and in SOD2 and SOD3 genes for Pf. In conclusion, our results provide convincing evidence for a relationship between polymorphisms in host antioxidant enzymes and susceptibility to malaria infection. [ABSTRACT FROM AUTHOR]

Diabetes is one of the most fatal and vastly heritable metabolic disorders across the globe primarily due to the associated long-term effects including uncontrolled blood sugar levels, blindness, renal and cardiac problems. One of the diabetes related genes peroxisome proliferated activated receptor gamma 2 (PPARγ2) plays significant role in insulin metabolism and is expressed predominantly in adipose tissues. Single nucleotide polymorphism (SNPs) like Pro12Ala, is known to be associated with PPARγ2 gene. In this study, we have made an effort to investigate the prevalence of Pro12Ala allele in the diabetic population of Guwahati, Assam. A total of 50 human subjects with control subjects were included in the study. The data obtained revealed that 49 out of 50 samples carried the Pro/Pro allele, while 1 individual carried the Pro/Ala allele. Results obtained in the study indicate the existence of insignificant link between the targeted SNP Pro12Ala and type 2 diabetes in the sampled population, whereas in contrast we found a strong association of the SNP Pro12Pro with diabetes. The present study shows that there is a need to carry out an extensive study with a large population, which would give us the better picture of occurrence of this SNP in Northeast Indian population. [ABSTRACT FROM AUTHOR]

Genetic factors are indicated in the development of type 1 diabetes (DM1). Recently, nucleotide variants of BACH2 and SOD2 have been associated with this chronic condition. Therefore, the purpose of the present study was to investigate the contribution of BACH2 rs3757247 and SOD2 rs4880 (Ala16Val) polymorphisms to the risk of DM1 and diabetes longterm complications. Selected polymorphic variants of BACH2 and SOD2 were investigated in a group of 141 patients with DM1 and in a group of age, gendermatched healthy subjects (n=369) using a highresolution melting curve method. There was no evidence for either allelic or genotypic association with the risk of DM1 and diabetes chronic complications for analysed polymorphisms. In addition, no interaction between BACH2 and SOD2 variants in the development of this condition was observed. However, the frequency of BACH2 rs3757247 AG and AA genotypes was statistically different between DM1 patients with retinopathy and healthy individuals (odds ratio, 2.455; 95% confidence interval, 0.9996.035; P=0.044), but this result did not survive multiple testing corrections. The present study did not confirm the involvement of BACH2 rs3757247 and SOD2 rs4880 polymorphisms in the development of DM1 and diabetes longterm complications. Further studies in a larger population sample are required. [ABSTRACT FROM AUTHOR]

Diabetic retinopathy (DR) is the most common microvascular complication of diabetes and the leading cause of blindness in industrialized countries. Oxidative stress plays an important role in the development of microangiopathic complications in diabetes. Manganese superoxide dismutase (MnSOD) is a key mitochondrial antioxidant enzyme in the cellular defense against agents that induce oxidative stress. The aim of the present study was to assess whether the MnSOD A16V (C47T) polymorphism is associated with Diabetic retinopathy in northern Iran. 140 patients with Diabetic retinopathy and 140 healthy individuals, aged 30 to 75 years old, participated in this study. For genotyping of the MnSOD A16V polymorphism the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used. The prevalence of genotype frequencies AA, AV, VV in Diabetic retinopathy subjects were 5.71, 71.43 and 22.86%, respectively, while in controls they were 21.43, 38.57 and 40%, respectively. A significantly increased frequency of the AV genotype was observed in patients as compared with controls (OR = 6.94, 95% CI = 2.98-16.20, P < 0.0001). In conclusion, it is suggested that the MnSOD A16V polymorphism may be associated with the risk of Diabetic retinopathy in northern Iran. However, larger population-based studies are needed for clarifying the relation between Diabetic retinopathy and the MnSOD A16V polymorphism. [ABSTRACT FROM AUTHOR]

The impact of diabetes on the developing brain is well-accepted. Effects on neurocognitive functioning are moderate but have larger functional implications, especially when considered through a developmental lens. Pathophysiological factors such as severe hypoglycemia and chronic hyperglycemia can alter developmental trajectories in early childhood and perhaps at later periods. In this paper, we selectively review neurocognitive outcomes in pediatric diabetes (largely type 1), integrating recent research from developmental neuroscience and neuroimaging. We examine the effects of diabetes at different stages and place findings within a neurodevelopmental diathesis/stress framework. Early-onset diabetes is associated with specific effects on memory and more global cognitive late-effects, but less is known about cognitive outcomes of diabetes in later childhood and in adolescence, a time of increased neurobehavioral vulnerability that has received relatively limited empirical attention. Studies are also needed to better elucidate risk and protective factors that may moderate neurodevelopmental outcomes in youth with diabetes. [ABSTRACT FROM AUTHOR]

Aims: Oxidative stress is involved in the pathophysiology of diabetic nephropathy. Manganese superoxide dismutase (SOD2) catalyses the dismutation of superoxide, regulates the metabolism of reactive oxygen species in the mitochondria and is highly expressed in the kidney. Plasma concentration of advanced oxidation protein products (AOPP), a marker of oxidative stress, was found to be increased in patients with kidney disease. We investigated associations of SOD2 allelic variations, plasma SOD activity and AOPP concentration with diabetic nephropathy in type 1 diabetic subjects. Methods: Eight SNPs in the SOD2 region were analysed in 1285 Caucasian subjects with type 1 diabetes from the SURGENE prospective study (n = 340; 10-year follow-up), GENESIS (n = 501) and GENEDIAB (n = 444) cross-sectional studies. Baseline plasma concentration of AOPP and SOD activity were measured in GENEDIAB participants. Hazard ratio (HR) and odds ratio (OR) were determined for incidence and prevalence of nephropathy. Analyses were adjusted or stratified by retinopathy stages. Results: In the SURGENE cohort, the T-allele of rs4880 (V16A) was associated with the incidence of renal events (new cases, or the progression to a more severe stage of nephropathy; HR 1.99, 95% CI 1.24–3.12, p = 0.004) and with the decline in estimated glomerular filtration rate (eGFR) during follow-up. Similar associations were observed for rs2758329 and rs8031. Associations were replicated in GENESIS/GENEDIAB cohorts, in the subset of participants without proliferative retinopathy, and were confirmed by haplotype analyses. Risk allele and haplotype were also associated with higher plasma AOPP concentration and lower SOD activity. Conclusions: SOD2 allelic variations were associated with the incidence and the progression of diabetic nephropathy, with a faster decline in eGFR and with plasma AOPP concentration and SOD activity in subjects with type 1 diabetes. These results are consistent with a role for SOD2 in the protection against oxidative stress and kidney disease in type 1 diabetes. [ABSTRACT FROM AUTHOR]

Objective(s): To the best of our knowledge, this is the first report on the contributions of GST genetic variants to the risk of diabetic retinopathy in an Iranian population. Therefore, the objective of this study was to determine whether sequence variation in glutathione S-transferase gene (GSTM1 and GSTT1) is associated with development of diabetic retinopathy in type 2 diabetes mellitus (T2DM) Iranian patients. Materials and Methods: A total of 605 subjects were investigated in this case-control study; Study groups consisted of 201 patients with diabetic retinopathy (DR), 203 subjects with no clinically significant signs of DR and a group of 201 cases of healthy volunteers with no clinical evidence of diabetes mellitus or any other diseases. The GSTM1 and GSTT1 were genotyped by multiplexpolymerase chain reaction (multiplex-PCR) analysis in all 404 T2DM patients and 201 healthy individuals served as control. Results: Increased odds ratio showed that GSTM1-null genotype had a moderately higher occurrence in T2DM patients (OR=1.43, 95% CI=1.01-2.04; P=0.03) than in healthy individuals. However, the frequency of GSTT1 genotype (OR=1.41; 95% CI=0.92-2.18; P=0.09) was not significantly different comparing both groups. Although, regression analysis in T2DM patients showed that GSTM1 and GSTT1 genotypes are not associated with T2DM retinopathy development. Conclusion: Our findings suggest that GSTM1 and GSTT1 genotypes might not be involved in the pathogenesis of type 2 diabetes mellitus retinopathy in the Southern Iranian population. However, further investigations are needed to confirm these results in other larger populations. [ABSTRACT FROM AUTHOR]

Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder ( ASD). We analyzed genes of the superoxide dismutase family ( SOD 1, SOD 2, and SOD 3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting ( HRM) analysis, we identified two rare single nucleotide polymorphisms ( SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 ( SOD 1) gene and have a minor allele frequency in healthy population ∼5%. The SNP c.239 + 34 A> C (rs2234694) and SNP g.3341 C> G (rs36233090) were detected with an odds ratio of 2.65 and P < 0.01. Both are located in the noncoding potentially regulatory regions of the SOD 1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. Autism Res 2014, 7: 138-144. © 2013 International Society for Autism Research, Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The relevance of reactive oxygen species (ROS) production relies on the dual role shown by these molecules in aerobes. ROS are known to modulate several physiological phenomena, such as immune response and cell growth and differentiation; on the other hand, uncontrolled ROS production may cause important tissue and cell damage, such as deoxyribonucleic acid oxidation, lipid peroxidation, and protein carbonylation. The manganese superoxide dismutase (MnSOD) antioxidant enzyme affords the major defense against ROS within the mitochondria, which is considered the main ROS production locus in aerobes. Structural and/or functional single nucleotide polymorphisms (SNP) within the MnSOD encoding gene may be relevant for ROS detoxification. Specifically, the MnSOD Ala16Val SNP has been shown to alter the enzyme localization and mitochondrial transportation, affecting the redox status balance. Oxidative stress may contribute to the development of type 2 diabetes, cardiovascular diseases, various inflammatory conditions, or cancer. The Ala16Val MnSOD SNP has been associated with these and other chronic diseases; however, inconsistent findings between studies have made difficult drawing definitive conclusions. Environmental factors, such as dietary antioxidant intake and exercise have been shown to affect ROS metabolism through antioxidant enzyme regulation and may contribute to explain inconsistencies in the literature. Nevertheless, whether environmental factors may be associated to the Ala16Val genotypes in human diseases still needs to be clarified. [ABSTRACT FROM AUTHOR]

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Catalase is the main regulator of hydrogen peroxide metabolism. In vitiligo patients there are conflicting data on its activity and no data on the effect of −262C>T polymorphism in the catalase gene. Blood catalase activity, −262C>T polymorphism and acatalasemia mutations were examined in 75 vitiligo patients and in 162 controls, in Hungary. We measured blood catalase activity and conducted analyses with PCR-SSCP, polyacrylamide gel electrophoresis and silver staining in combination with RFLP and nucleotide sequencing. Comparison of the wild (CC) genotype and the mutant (TT) genotype in the vitiligo patients revealed a non significant ( P > 0.19) increase in blood catalase. Male controls with the CT genotype had significantly ( P < 0.04) lower blood catalase activity than CC genotype controls. Female vitiligo patients with CC genotype had lower ( P < 0.04) blood catalase than female controls. The frequency of wild genotype (CC) and C alleles is significantly ( P < 0.04) decreased in Hungarian controls when compared to controls in Slovenia, Morocco, UK, Greece, Turkey, USA, China. The detection of a novel acatalasemia mutation (37C>T in exon 9) and the 113G>A (exon 9) mutation in Hungary are further proofs of genetic heterogeneity origin of acatalasemia mutations. In conclusion, the −262 C>T polymorphism has a reverse effect on blood catalase in vitiligo patients and in controls. In controls the mutant genotypes and alleles are more frequent in Hungary than in several other populations. The new acatalasemia mutations are further examples of heterogeneity of acatalasemia. [ABSTRACT FROM AUTHOR]

Diabetic retinopathy (DR), a common complication of both type 1 and type 2 diabetes, is rarely expressed at a level greater than background retinopathy during childhood and adolescence. Epidemiological studies in paediatric diabetic patients together with data from the Diabetes Control and Complications Trial have demonstrated the importance of glycaemic control in delaying or preventing the development of DR; thus, the incidence of DR has declined somewhat over the past two decades. Both prepubertal and postpubertal years with diabetes contribute to the overall probability of DR development. In addition to duration of disease and degree of glycaemic control, other risk factors for DR development include elevated blood pressure, lipid profiles, serum levels of advanced glycation endproducts, evidence for early stage atherosclerosis, increased calibre of retinal blood vessels and several genetic factors, such as enzymes involved in glucose and lipid metabolism. Annual screening is recommended, with mydriatic stereoscopic fundus photography being the most sensitive detection method. Both pathophysiology and treatment in paediatric populations are essentially the same as described for adult populations, with treatment usually not required until adulthood is reached. [ABSTRACT FROM AUTHOR]

Purpose: Ovarian small cell carcinoma of the hypercalcaemic type is a very rare and highly aggressive malignant disease, mainly affecting young women. Due to the rarity of this tumour entity, prospective randomised trials are unlikely to be conducted, and the only retrospective analysis based on a large case series is from 1994. Since diagnostic and treatment modalities may have changed, we initiated this analysis. Methods: The aim of our study was to review and analyse cases published since 1975 to validate former findings and to gather more information about therapy options, diagnostic and prognostic factors. A systematic literature search of the PubMed/Medline database was performed assessing all articles until September 2010. All retrieved articles were evaluated and cross-checked for references on the topic. In total, 135 cases were included, selected from 62 case reports and smaller case studies. Results: Small cell carcinoma mostly affects women with a mean age of 23.4 years. They present with unspecific symptoms like abdominal pain or palpable mass, sometimes accompanied by an elevated calcium or CA-125 serum concentration. The tumour appears nearly almost unilaterally, mostly affecting the right ovary. Tumour stage is a clearly prognostic factor. Adjuvant chemotherapy consisting of etoposide, cisplatinum/carboplatinum or vinca alkaloids has shown improved survival, whereas radiotherapy has not. Conclusions: In spite of limitations this analysis provides new insights especially with respect to therapeutic aspects. This review underlines the importance of case reports in rare tumour entities in order to answer open questions. [ABSTRACT FROM AUTHOR]

In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of diabetes/metabolism. Each bibliography is divided into 26 sections: 1 Reviews; 2 General; 3 Genetics; 4 Epidemiology; 5 Immunology; 6 Obesity; 7 Prediction and Prevention; 8 Intervention: a) General; b) Care; c) Drug Therapy; d)Economics; e) Gene therapy; f) Nursing; g) Nutrition; h) Surgery; i) Transplantation; 9 Pathology and Complications: a) General; b) Cardiovascular; c) Eye disease; d) Gestational and fetal; e) Neurological; f) Podiatrical; g) Renal; 10 Endocrinology & Metabolism; 11 Experimental Studies; 12 Diagnosis and Techniques. Within each section, articles are listed in alphabetical order with respect to author [ABSTRACT FROM AUTHOR]

We report here on unique post-perihelion (2.3 AU) measurements of Comet Hale-Bopp in the FUV-range (950–1250 Å) by means of the UVSTAR spectrometer from the space shuttle with the main purpose of searching for argon and other FUV emitters. New methods for separating the strong airglow emission at shuttle altitudes are here discussed in detail. Due to our low resolution (15 Å) and S/N ratio the possible rocket-borne detection of argon near perihelion (0.9 AU) could not be confirmed. New species as N2 are suspected but difficult to separate from the strong airglow emission at shuttle altitudes. From the Lyα brightness (1.30± 0.08 kRy) a water production rate Q = 5.9 ± 0.4 × 1029 molecules s−1 could be derived and compared with other post-perihelion observations. [ABSTRACT FROM AUTHOR]

Tumors of the ovary in girls represent about 80% of pediatric genital tumors; approximately 30% of these tumors are malignant. The risk of malignancy increases with decreasing age. The most frequent finding is a teratoma; other tumors are rare. Small-cell carcinoma (SCCO) of the ovary is extremely rare, occurring mostly in young women. We present an 8-year-old girl with a SCCO of the hypercalcemic type. The findings and treatment are discussed with emphasis on the poor prognosis in these patients, even in stage 1 disease. The current literature is reviewed. [ABSTRACT FROM AUTHOR]

A rare case of large-cell variant of hypercalcemic small cell carcinoma of the ovary diagnosed in a 17 year-old girl is presented and discussed. The patient died of disease progression and severe hypercalcemia within 25 months of diagnosis. [ABSTRACT FROM AUTHOR]

The final optical design for a space-borne light detection and ranging (lidar) mission is presented, in response to the European Space Agency “Advanced lidar concepts” proposal for use of a differential absorption lidar system to measure water vapor distribution in atmosphere at 935.5 nm. The telescope adopts a double afocal concept (i.e., four reflections with two mirrors) using a lightweight and large aperture primary mirror. It is derived from a feasibility study that compares several different optical configurations, taking into account parameters such as cost, dimensions, complexity, and technological feasibility. The final telescope optical design is described in detail, highlighting a trade-off with other solutions and its optical tolerances. [ABSTRACT FROM AUTHOR]

In recent years, American institutions have inadvertently encountered the bodies of former slaves with increasing frequency. Pledges of respect are common-features of these discoveries, accompanied by cultural debates about what [...]