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Sample records for overtraining syndrome ots

  1. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

    Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes. Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation. Bibliographies were reviewed for additional resources. Results: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. Conclusions: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science’s position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS. PMID:23016079

  2. Hormonal responses in athletes: the use of a two bout exercise protocol to detect subtle differences in (over)training status.

    PubMed

    Meeusen, R; Piacentini, M F; Busschaert, B; Buyse, L; De Schutter, G; Stray-Gundersen, J

    2004-03-01

    In overtrained athletes, several signs and symptoms have been associated with the imbalance between training and recovery. However, reliable diagnostic markers for distinguishing between well-trained, overreached (OR) and overtrained (OT) athletes are lacking. A hallmark feature of overtraining syndrome (OTS) is the inability to sustain intense exercise and recover for the next training or competition session. We therefore devised a test protocol utilizing two bouts of maximal work. With this test protocol we tried to establish a difference in hormonal responses between the training status of T and OR athletes. Seven well-trained cyclists participated in this study and were tested before and after a training camp. We also present the data of one OT motocross athlete who was clinically diagnosed as overtrained. All athletes performed two maximal exercise tests separated by 4 h. Blood was analyzed for cortisol, adrenocorticotrophic hormone (ACTH), growth hormone and prolactin (PRL). Performance decreased by 6% between the first and the second exercise test in the OR group and by 11% in the OT subject. Moreover, during the second exercise test there were more marked differences between the T and OR athletes; in particular, the OT subject did not show an increase in some of the hormonal responses. PRL increased only by 14% in the OT subject's second test and there was a 7% decrease in ACTH. The two exercise approach enables us to detect subtle performance decrements that will not be identified by one exercise trigger. The hormonal responses to the second exercise test were different between the T and OR athletes (the increase in the T group was higher than in the OR that was higher than in the OT). The results of the case presentation of an overtrained athlete provide evidence of an altered and dysfunctional hypothalamic-pituitary axis response to two bouts of maximal exercise. These findings can be used to develop markers for diagnosis of OTS and to begin to address

  3. THE EFFECTS OF NON-FUNCTIONAL OVERREACHING AND OVERTRAINING ON AUTONOMIC NERVOUS SYSTEM FUNCTION IN HIGHLY TRAINED ATHLETES.

    PubMed

    Kajaia, T; Maskhulia, L; Chelidze, K; Akhalkatsi, V; Kakhabrishvili, Z

    2017-03-01

    Aim of the study was to compare the ANS functioning, as measured by heart rate variability (HRV), in athletes with non-functional overreaching (NFO) and overtraining syndrome (OTS) and in athletes without NFO/OTS. In 43 athletes with NFO/OTS, 40 athletes without NFO/OTS, as well as in 35 sedentary subjects the ANS function was evaluated with the Autonomic Balance Test, based on the HRV analysis of resting heart rate recordings. Results of the study show lower HRV and lower vagal influence along with increased sympathetic cardiovascular control in athletes with non-functional overreaching and particularly in athletes with overtraining, than in highly trained athletes without NFO/OTS. "Stress Response" in athletes with NFO, as well as in some athletes with OTS, showing sympathetic dominance, considered as a sign of physical or mental fatigue and chronic stress, whereas "Total Autonomic Dystonia" in most of the athletes with OTS (67%) reflects more advanced stage of maladaptation associated with depressed regulatory function of the ANS, both sympathetic, as well as vagal influences. Most frequently NFO and OTS were seen in wrestling, which needs further investigation and regular medical monitoring. Thus, results of the study show progression of autonomic imbalance and depression of regulatory function of the autonomic nervous system in athletes with OTS. The cardiac autonomic imbalance observed in overtrained athletes implies changes in HRV and therefore would consider that heart rate variability may provide useful information in detection of overtraining in athletes and can be a valuable adjacent tool for optimising athlete's training program as well as for timely diagnosis and prevention of progression of NFO/OTS.

  4. Effects of overtraining on skeletal muscle growth and gene expression.

    PubMed

    Xiao, W; Chen, P; Dong, J

    2012-10-01

    The aim of this study was to investigate the effects of overtraining on skeletal muscle growth and growth-related gene expression. The rats of overtraining group (OT) and overtraining recovery group (OTR) were subject to 11 experimental weeks of overtraining protocol. It was found that the absolute gastrocnemius muscle wet weight of the OT group was significantly lower than that of the sedentary group (23.6%, P<0.01). Serum creatine kinase was significantly higher in the OT and OTR groups than the sedentary group. CD68, CD163, MyoD, myogenin, IL-1β, TNF-α, IGF-I and MGF mRNA did not change in the OT group as compared with the sedentary group. IL-6 and TGF-β1 mRNA in the OT group increased significantly as compared with the sedentary group (2.17 fold and 1.78 fold, respectively; P<0.01). IL-10 mRNA decreased significantly in the OT group (63%, P<0.01) and the OTR group (77%, P<0.01) compared to the sedentary group. COX-2 mRNA decreased significantly in the OT group (60%, P<0.01) and the OTR group (69%, P<0.01) from the sedentary group. uPA mRNA in the OT group was significantly lower than that in the sedentary group (32%, P<0.01). These data suggest that inflammatory cytokines, COX-2 and uPA may play roles in the inhibition of skeletal muscle growth induced by overtraining. © Georg Thieme Verlag KG Stuttgart · New York.

  5. Body composition, metabolism, sleep, psychological and eating patterns of overtraining syndrome: Results of the EROS study (EROS-PROFILE).

    PubMed

    Cadegiani, Flavio A; Kater, Claudio E

    2018-08-01

    Overtraining syndrome (OTS) is caused by an imbalance between training, nutrition and resting, and leads to decreased performance and fatigue; however, the precise underlying triggers of OTS remain unclear. This study investigated the body composition, metabolism, eating, sleeping patterns and mood states among participants with OTS. Selected participants were divided into OTS-affected athletes (OTS, n = 14), healthy athletes (ATL, n = 25), and healthy non-physically active controls (NCS, n = 12). Compared to ATL, OTS showed decreased sleep quality (p = 0.004); increased duration of work or study (p < 0.001); decreased libido (p = 0.024); decreased calorie (p < 0.001), carbohydrate (p < 0.001) and protein (p < 0.001) intakes; decreased mood states (p < 0.001); decreased basal metabolic rate (p = 0.013) and fat burning (p < 0.001); increased body fat (p = 0.006); decreased muscle mass (p = 0.008); and decreased hydration (p < 0.001). Levels were similar between OTS and NCS, except for worsened fatigue (p < 0.001) and vigour (p = 0.001) in OTS. Reduced calorie intake, worsened sleep, and increased cognitive activity are likely OTS triggers. OTS appears to induce dehydration, increase body fat, decrease libido, and worsen mood.

  6. Evaluation and Opportunities in Overtraining Approaches

    ERIC Educational Resources Information Center

    Roose, Jolanda; de Vries, Wouter R.; Schmikli, Sandor L.; Backx, Frank J. G.; van Doornen, Lorenz J. P.

    2009-01-01

    Overtraining (OT) as a sports phenomenon can be caused by stressors on various levels (physical, emotional, psychological, and social) and evokes responses on these levels. This study evaluated research and new opportunities in the field of OT by introducing an integrated multidisciplinary approach, based on the single and multistressors approach.…

  7. Diagnosis and prevention of overtraining syndrome: an opinion on education strategies

    PubMed Central

    Kreher, Jeffrey B

    2016-01-01

    Overtraining syndrome is a condition of maladapted physiology in the setting of excessive exercise without adequate rest. The exact etiology and pathogenesis are unknown and being investigated. Symptoms are multisystem in nature and often representative of underlying hormonal, immunologic, neurologic, and psychologic disturbances. Unfortunately, systematic review of the literature does not clearly direct diagnosis, management, or prevention. However, given the severity of symptoms and impairment to quality of life, prevention of overtraining syndrome should be considered by all who interact with endurance athletes. This article will provide suggestions for management of at-risk athletes despite absence of validated diagnostic tests and preventative measures. PMID:27660501

  8. Pituitary-adrenal-gonadal responses to high-intensity resistance exercise overtraining.

    PubMed

    Fry, A C; Kraemer, W J; Ramsey, L T

    1998-12-01

    Weight-trained men [OT; n = 11; age = 22.0 +/- 0.9 (SE) yr] resistance trained daily at 100% one-repetition maximum (1-RM) intensity for 2 wk, resulting in 1-RM strength decrements and in an overtrained state. A control group (Con; n = 6; age = 23.7 +/- 2.4 yr) trained 1 day/wk at a low relative intensity (50% 1 RM). After 2 wk, the OT group exhibited slightly increased exercise-induced testosterone (preexercise = 26.5 +/- 1.3 nmol/l, postexercise = 29.1 +/- 5.9 nmol/l) and testosterone-to-cortisol ratio (preexercise = 0. 049 +/- 0.007 nmol/l, postexercise = 0.061 +/- 0.006 nmol/l) and decreased exercise-induced cortisol (preexercise = 656.1 +/- 98.1 nmol/l, postexercise = 503.1 +/- 39.7 nmol/l). Serum concentrations for growth hormone and plasma peptide F [preproenkephalin (107-140)] were similar for both groups throughout the overtraining period. This hormonal profile is distinctly different from what has been previously reported for other types of overtraining, indicating that high-relative-intensity resistance exercise overtraining may not be successfully monitered via circulating testosterone and cortisol. Unlike overtraining conditions with endurance athletes, altered resting concentrations of pituitary, adrenal, or gonadal hormones were not evident, and exercise-induced concentrations were only modestly affected.

  9. Evaluation of immune response after moderate and overtraining exercise in wistar rat

    PubMed Central

    Gholamnezhad, Zahra; Boskabady, Mohammad Hossein; Hosseini, Mahmoud; Sankian, Mojtaba; Khajavi Rad, Abolfazl

    2014-01-01

    Objective(s): The effect of prolonged overtraining on cytokine kinetics was compared with moderate exercise in the present study. Materials and Methods: Male Wistar rats were randomly divided into control sedentary (C), moderate trained (MT), (V=20 m/min, 30 min/day for 6 days a week, 8 weeks), overtrained (OT) (V=25 m/min, 60min/day for 6 days a week, 11 weeks) and recovered overtrained (OR) (OT plus 2 weeks recovery) groups, (n=6 for each group). Immediately, 24 hr and 2 weeks (in OR) after last bout of exercise blood samples were obtained. The plasma concentrations of TNFα, IL-6, IL-10, IL-4 and IFN were measured by ELISA method. Results: Immediately after last bout of exercise the following findings were observed; IL-6, IL-10 and TNFα concentrations increased in OT and OR groups compared with control (P<0.05–P<0.001). Serum level of IL-4 decreased (P<0.01) but IFN increased (P<0.05) in MT group vs. control. In addition, circulatory levels of TNFα, IL-6, IL-10 and IL-4 were higher but the IFN concentrations were lower in OT and OR groups than MT group (P<0.05-P<0.01). The IFN-γ/IL4 ratio was significantly increased in MT (P<0.01) while it decreased in OT group. There were not statistical differences in TNFα, IL-6, and IFN levels between different time intervals after exercise in MT, OT and OR groups. Conclusion: These data confirm a positive effect of moderate exercise on immune function and a decrease in susceptibility to viral infection by inducing Th1 cytokine profile shift. However, prolonged and overtraining exercise causes numerous changes in immunity that possibly reflects physiological stress and immune suppression. PMID:24592300

  10. Overtraining and immune system: a prospective longitudinal study in endurance athletes.

    PubMed

    Gabriel, H H; Urhausen, A; Valet, G; Heidelbach, U; Kindermann, W

    1998-07-01

    A prospective longitudinal study investigated for 19 +/- 3) months whether immunophenotypes of peripheral leukocytes were altered in periods of severe training. Leukocyte membrane antigens (CD3, CD4, CD8, CD14, CD16, CD19, CD45, CD45RO, and CD56) of endurance athletes were immunophenotyped (dual-color flow cytometry) and list mode data analyzed by a self-learning classification system in a state of an overtraining syndrome (OT; N = 15) and several occasions without symptoms of staleness (NS; N = 70). Neither at physical rest nor after a short-term highly intensive cycle ergometer exercise session at 110% of the individual anaerobic threshold did cell counts of neutrophils, T, B, and natural killer cells differ between OT and NS. Eosinophils were lower during OT, activated T cells (CD3+HLA/DR+) showed slight increases (NS: 5.5 +/- 2.7; OT 7.3 +/- 2.4% CD3+ of cells; means +/- SD; P < 0.01) during OT without reaching pathological ranges. The cell-surface expression of CD45RO (P < 0.001) on T cells, but not cell concentrations of CD45RO+ T cells, were higher during OT. OT could be classified with high specificities (92%) and sensitivities (93%). It is concluded that OT does not lead to clinically relevant alterations of immunophenotypes in peripheral blood and especially that an immunosuppressive effect cannot be detected. Immunophenotyping may provide help with the diagnosis of OT in future, but the diagnostic approach presented here requires improvements before use in sports medicine practice is enabled.

  11. Evaluation and opportunities in overtraining approaches.

    PubMed

    Roose, Jolanda; de Vries, Wouter R; Schmikli, Sandor L; Backx, Frank J G; van Doornen, Lorenz J P

    2009-12-01

    Overtraining (OT) as a sports phenomenon can be caused by stressors on various levels (physical, emotional, psychological, and social) and evokes responses on these levels. This study evaluated research and new opportunities in the field of OT by introducing an integrated multidisciplinary approach, based on the single and multistressors approach. The single stressor approach focuses on the training load-recovery imbalance, which results in a stagnating performance, excluding the etiology by nonsport-related factors. The multistressors approach includes all factors as relevant in the etiology of a stagnating performance. In future studies on OT an integrative approach should not only highlight changes in training regimes and specific responses to training stressors but also focus on the role of training-related recovery, the impact of stressors, and personality factors influencing stress appraisal. This will provide a better insight into the etiology and consequences of OT necessary for prevention and treatment in sport practice, and enhance the focus on adequate recovery (good sleep, sufficient rest periods) and athletes' stress-related responses.

  12. Lung abscess in a professional rugby player: an illustration of overtraining syndrome?

    PubMed Central

    Castinel, Bernard H; Adam, Philippe; Prat, Christophe; Mourlanette, Pierre

    2007-01-01

    As in other endurance sports, the intensity of training sessions and the pace of competition has significantly increased since rugby union became a professional sport. The case history is presented of a professional rugby player who was diagnosed with septicaemia and a lung abscess following an infected wound to the ear. The symptoms only resolved after a large dose of antibiotics and 3 months of rest. It is hypothesised that this may be an example of overtraining syndrome, but complementary blood analyses would be necessary to confirm this. The case underlines the importance of clinically assessing the individual capacity of players to recover, in order to prevent overtraining and to maintain a high level of performance during the whole season. PMID:17483140

  13. Nutritional status in short-term overtraining boxers

    NASA Astrophysics Data System (ADS)

    Alexandrova, Albena; Petrov, Lubomir; Zaekov, Nikolay; Bozhkov, Borislav; Zsheliaskova-Koynova, Zshivka

    2017-03-01

    The diet is essential to the recovery process in athletes, especially those undergoing intensive training. The continuous imbalance between loading and recovery leads to development of overtraining syndrome. The purpose of this study was to establish the changes in the nutritional status of short-term overtrained athletes. Twelve boxers from the team of National Spoils Academy Sofia, Bulgaria during their preparation for the National Championship 2016 were studied. The measurements were conducted three times.in the beginning of preparation (T1), 22 days later (2) and 10 days after (32 days after first measurement), in the beginning of the recovery period, one week prior the competition (T3).The measurements included basic anthropometric data, overtraining questionnaire RESTO-Sport and nutrition questionnaire, plasma concentration of testosterone and cortisol.On the data of dietary survey the percent proportion and the amount of daily consumed proteins, fats and carbohydrates were defined and the energy intake of the tested athletes was calculated. According to the RESTO-Sport a significant decrease in the ratio stress/recovery was observed in the period with the heaviest training load T2, and an increase was estimated in the pre­competition recovery period T3. It was found a typical for the overtraining syndrome decrease in the concentration of testosterone and the ratio of testosterone/cortisol in T3. In some respondents a reduction in carbohydrates and proteins intake was observed in T2 and especially in T3, which correlates with the hormonal changes. In this work the diet changes was discussed as a possible consequence and/or a cause of the overtraining syndrome.

  14. Impaired pituitary hormonal response to exhaustive exercise in overtrained endurance athletes.

    PubMed

    Urhausen, A; Gabriel, H H; Kindermann, W

    1998-03-01

    The aim of the present prospective longitudinal study was to investigate the hormonal response in overtrained athletes at rest and during exercise consisting of a short-term exhaustive endurance test on a cycle ergometer at an intensity 10% above the individual anaerobic threshold. Over a period of 19+/-1 months, 17 male endurance athletes (cyclists and triathletes; age 23.4+/-1.6 yr; VO2max. 61.2+/-1.8 mL x min(-1) x kg(-1); means+/-SEM) were examined five times on two separate days under standardized conditions. Short-term overtraining states (OT, N=15) were primarily induced by an increase of frequency of high-intensive bouts of exercise or competitions without increase of the total amount of training. OT was compared with normal training states intraindividually (NS, N=62). During OT, the time to exhaustion of the exercise test was significantly decreased by 27% on average. At rest and during exercise, the concentrations in plasma and the nocturnal excretion in urine of free epinephrine and norepinephrine were not significantly changed during OT. At physical rest, the concentrations of (free) testosterone, cortisol, luteinizing hormone, follicle-stimulating hormone, adrenocorticotropic hormone, growth hormone, and insulin during OT were comparable with those during NS. A significantly (P < 0.025) lower maximal exercise-induced increase of the adrenocorticotropic hormone and growth hormone, as well as a trend for a decrease of cortisol (P=0.060) and insulin (P=0.036), was measured. The response of free catecholamines as well as the ergometric performance of an all-out 30-s test was unchanged. Serum urea, uric acid, ferritin, and activity of creatine kinase showed no differences between conditions. In conclusion, the results confirm the hypothesis of a hypothalamo-pituitary dysregulation during OT expressed by an impaired response of pituitary hormones to exhaustive short-endurance exercise.

  15. Prevention, diagnosis, and treatment of the overtraining syndrome: joint consensus statement of the European College of Sport Science and the American College of Sports Medicine.

    PubMed

    Meeusen, Romain; Duclos, Martine; Foster, Carl; Fry, Andrew; Gleeson, Michael; Nieman, David; Raglin, John; Rietjens, Gerard; Steinacker, Jürgen; Urhausen, Axel

    2013-01-01

    Successful training not only must involve overload but also must avoid the combination of excessive overload plus inadequate recovery. Athletes can experience short-term performance decrement without severe psychological or lasting other negative symptoms. This functional overreaching will eventually lead to an improvement in performance after recovery. When athletes do not sufficiently respect the balance between training and recovery, nonfunctional overreaching (NFOR) can occur. The distinction between NFOR and overtraining syndrome (OTS) is very difficult and will depend on the clinical outcome and exclusion diagnosis. The athlete will often show the same clinical, hormonal, and other signs and symptoms. A keyword in the recognition of OTS might be "prolonged maladaptation" not only of the athlete but also of several biological, neurochemical, and hormonal regulation mechanisms. It is generally thought that symptoms of OTS, such as fatigue, performance decline, and mood disturbances, are more severe than those of NFOR. However, there is no scientific evidence to either confirm or refute this suggestion. One approach to understanding the etiology of OTS involves the exclusion of organic diseases or infections and factors such as dietary caloric restriction (negative energy balance) and insufficient carbohydrate and/or protein intake, iron deficiency, magnesium deficiency, allergies, and others together with identification of initiating events or triggers. In this article, we provide the recent status of possible markers for the detection of OTS. Currently, several markers (hormones, performance tests, psychological tests, and biochemical and immune markers) are used, but none of them meet all the criteria to make their use generally accepted.

  16. Changes in cytokines, leptin, and IGF-1 levels in overtrained athletes during a prolonged recovery phase: A case-control study.

    PubMed

    Joro, Raimo; Uusitalo, Arja; DeRuisseau, Keith C; Atalay, Mustafa

    2017-12-01

    We investigated how cytokines are implicated with overtraining syndrome (OTS) in athletes during a prolonged period of recovery. Plasma IL-6, IL-10, TNF-α, IL-1β, adipokine leptin, and insulin like growth factor-1 (IGF-1) concentrations were measured in overtrained (OA: 5 men, 2 women) and healthy control athletes (CA: 5 men, 5 women) before and after exercise to volitional exhaustion. Measurements were conducted at baseline and after 6 and 12 months. Inflammatory cytokines did not differ between groups at rest. However, resting leptin concentration was lower in OA than CA at every measurement (P < 0.050) but was not affected by acute exercise. Although IL-6 and TNF-α concentrations increased with exercise in both groups (P < 0.050), pro-inflammatory IL-1β concentration increased only in OA (P < 0.050) and anti-inflammatory IL-10 was greater in CA (P < 0.001). In OA, exercise-related IL-6 and TNF-α induction was enhanced during the follow-up (P < 0.050). IGF-1 decreased with exercise in OA (P < 0.050); however, no differences in resting IGF-1 were observed. In conclusion, low leptin level at rest and a pro-inflammatory cytokine response to acute exercise may reflect a chronic maladaptation state in overtrained athletes. In contrast, the accentuation of IL-6 and TNF-α responses to acute exercise seemed to associate with the progression of recovery from overtraining.

  17. Downhill Running-Based Overtraining Protocol Improves Hepatic Insulin Signaling Pathway without Concomitant Decrease of Inflammatory Proteins

    PubMed Central

    Pauli, José R.; Cintra, Dennys E.; de Souza, Claudio T.; Ropelle, Eduardo R.; R. da Silva, Adelino S.

    2015-01-01

    The purpose of this study was to verify the effects of overtraining (OT) on insulin, inflammatory and gluconeogenesis signaling pathways in the livers of mice. Rodents were divided into control (CT), overtrained by downhill running (OTR/down), overtrained by uphill running (OTR/up) and overtrained by running without inclination (OTR). Rotarod, incremental load, exhaustive and grip force tests were used to evaluate performance. Thirty-six hours after a grip force test, the livers were extracted for subsequent protein analyses. The phosphorylation of insulin receptor beta (pIRbeta), glycogen synthase kinase 3 beta (pGSK3beta) and forkhead box O1 (pFoxo1) increased in OTR/down versus CT. pGSK3beta was higher in OTR/up versus CT, and pFoxo1 was higher in OTR/up and OTR versus CT. Phosphorylation of protein kinase B (pAkt) and insulin receptor substrate 1 (pIRS–1) were higher in OTR/up versus CT and OTR/down. The phosphorylation of IκB kinase alpha and beta (pIKKalpha/beta) was higher in all OT protocols versus CT, and the phosphorylation of stress-activated protein kinases/Jun amino-terminal kinases (pSAPK-JNK) was higher in OTR/down versus CT. Protein levels of peroxisome proliferator-activated receptor-gamma coactivator 1alpha (PGC-1alpha) and hepatocyte nuclear factor 4alpha (HNF-4alpha) were higher in OTR versus CT. In summary, OTR/down improved the major proteins of insulin signaling pathway but up-regulated TRB3, an Akt inhibitor, and its association with Akt. PMID:26445495

  18. Prevalence of nonfunctional overreaching/overtraining in young English athletes.

    PubMed

    Matos, Nuno F; Winsley, Richard J; Williams, Craig A

    2011-07-01

    Nonfunctional overreaching and overtraining (NFOR/OT) in adults can lead to significant decrements in performance, combined with physical and psychological health problems. Little is known about this condition in young athletes by comparison; thus, the aim of the study was to assess the incidence and symptomatology of NFOR/OT in young English athletes. Three hundred seventy-six athletes (131 girls and 245 boys, age=15.1±2.0 yr) completed a 92-item survey about NFOR/OT. The sample included athletes competing at club to international standards across 19 different sports. Athletes were classified as NFOR/OT if they reported persistent daily fatigue and a significant decrement in performance that lasted for long periods of time (i.e., weeks to months). Data were analyzed using the Mann-Whitney U and the Kolmogorov-Smirnov nonparametric tests. Significant predictors of NFOR/OT were identified using logistic regression analysis. One hundred ten athletes (29%) reported having been NFOR/OT at least once. The incidence was significantly higher in individual sports (P<0.01), low-physical demand sports (P<0.01), females (P<0.01), and at the elite level (P<0.01). Training load was not a significant predictor of NFOR/OT; however, competitive level and gender accounted for a small (4.7% and 1.7%, respectively) but significant explanatory variance of NFOR/OT (P<0.05). Approximately one-third of young athletes have experienced NFOR/OT, making this an issue for parents and coaches to recognize. OT is not solely a training load-related problem with both physical and psychosocial factors identified as important contributors.

  19. Ergometric and psychological findings during overtraining: a long-term follow-up study in endurance athletes.

    PubMed

    Urhausen, A; Gabriel, H H; Weiler, B; Kindermann, W

    1998-02-01

    In the present prospective longitudinal study 17 male endurance trained athletes (cyclists and triathletes; age 23.4+/-6.7 years, VO2max 61.2+/-7.5 ml x min(-1) x kg(-1); means+/-SD) were investigated both during a state of overtraining syndrome (OT: N=15), mainly induced by an increase of exercise intensity, as well as several times in a state of regular physical ability (NS: N=62). Cycle-ergometric and psychological data were compared for a period of approximately 19 months. On 2 separate days, each subject performed a maximum incremental graded exercise, two anaerobic tests (10 s and 30 s) as well as a short-endurance "stress test" with the intensity of 110% of the individual anaerobic threshold until volitional exhaustion. The mood state was recorded by a psychological questionnaire including 40 basic items. During OT the submaximal lactate concentrations were slightly decreased. The performance of the 10 s- and 30 s-tests was unaffected. In contrast, the duration of the "stress test" decreased significantly by approximately 27% during OT compared to the individual NS. The submaximal oxygen uptake measured during the incremental graded exercise was slightly higher during OT as compared to NS, whereas the submaximal and maximal respiratory exchange ratio, maximal heart rate and maximal lactate concentrations were decreased. At the 10th minute of the "stress test", ammonia tended to be increased during OT (P=0.048). The parameters of mood state at rest as well as the subjective rating of perceived exertion during exercise were significantly impaired during OT. In conclusion, the results indicate a decreased intramuscular utilization of carbohydrates with diminished maximal anaerobic lactacid energy supply during OT. Neither the lactate-performance relationship during incremental graded exercise nor the anaerobic alactacid performance showed alterations. The duration of the short-endurance "stress test", the maximal lactate concentration of the incremental graded

  20. Treadmill Slope Modulates Inflammation, Fiber Type Composition, Androgen, and Glucocorticoid Receptors in the Skeletal Muscle of Overtrained Mice

    PubMed Central

    da Rocha, Alisson L.; Pereira, Bruno C.; Teixeira, Giovana R.; Pinto, Ana P.; Frantz, Fabiani G.; Elias, Lucila L. K.; Lira, Fábio S.; Pauli, José R.; Cintra, Dennys E.; Ropelle, Eduardo R.; de Moura, Leandro P.; Mekary, Rania A.; de Freitas, Ellen C.; da Silva, Adelino S. R.

    2017-01-01

    Overtraining (OT) may be defined as an imbalance between excessive training and adequate recovery period. Recently, a downhill running-based overtraining (OTR/down) protocol induced the nonfunctional overreaching state, which is defined as a performance decrement that may be associated with psychological and hormonal disruptions and promoted intramuscular and systemic inflammation. To discriminate the eccentric contraction effects on interleukin 1beta (IL-1β), IL-6, IL-10, IL-15, and SOCS-3, we compared the release of these cytokines in OTR/down with other two OT protocols with the same external load (i.e., the product between training intensity and volume), but performed in uphill (OTR/up) and without inclination (OTR). Also, we evaluated the effects of these OT models on the muscle morphology and fiber type composition, serum levels of fatigue markers and corticosterone, as well as androgen receptor (AR) and glucocorticoid receptor (GR) expressions. For extensor digitorum longus (EDL), OTR/down and OTR groups increased the cytokines and exhibited micro-injuries with polymorphonuclear infiltration. While OTR/down group increased the cytokines in soleus muscle, OTR/up group only increased IL-6. All OT groups presented micro-injuries with polymorphonuclear infiltration. In serum, while OTR/down and OTR/up protocols increased IL-1β, IL-6, and tumor necrosis factor alpha, OTR group increased IL-1β, IL-6, IL-15, and corticosterone. The type II fibers in EDL and soleus, total and phosphorylated AR levels in soleus, and total GR levels in EDL and soleus were differentially modulated by the OT protocols. In summary, the proinflammatory cytokines were more sensitive for OTR/down than for OTR/up and OTR. Also, the specific treadmill inclination of each OT model influenced most of the other evaluated parameters. PMID:29163473

  1. Thyroid hormones and commonly cited symptoms of overtraining in collegiate female endurance runners.

    PubMed

    Nicoll, Justin X; Hatfield, Disa L; Melanson, Kathleen J; Nasin, Christopher S

    2018-01-01

    Overtraining syndrome (OTS) is reported in endurance sports. Thyroid hormones (TH) regulate metabolism, mood, and energy production, and may play a role in OTS of endurance athletes. The purpose of this study was to investigate relationships in TH and symptoms of OTS in track and field endurance runners (ER). Sixteen female track and field middle distance (MD; n = 9; age: 20.2 ± 1.5 years; ht: 167.86 ± 5.04 cm; body-mass: 57.97 ± 5.05 kg; VO 2MAX : 53.62 ± 6.04 ml/kg/min) and long distance (LD; n = 7; age: 20.5 ± 1.5 years; ht: 162.48 ± 6.11 cm; body-mass: 56.15 ± 5.99 kg; VO 2MAX : 61.94 ± 3.29 ml/kg/min) ER participated in this descriptive study (15-weeks). Thyroid-stimulating hormone (TSH), triiodothyronine (T 3 ), and thyroxine (T 4 ), were collected at pre-(PRE) and post-season (POST). A fatigue scale was administered weekly, and percent change (PΔ) in race time (season best vs. championship performance) was calculated. Wilcoxon-sign ranked tests and Spearman's rho correlations were used to determine changes and relationships between TH and performance. TSH, T 3 and T 4 did not change from PRE to POST. The percent change (PΔ) in T 3 from PRE to POST was correlated with running performance at the end of the season (ρ = - 0.70, p = 0.036). Fatigue at week 12 correlated with running performance at the end of the season (ρ = - 0.74, p = 0.004). TH may be valuable in assessing the overall training state of ER. TH concentrations change too slowly to be a frequent marker of monitoring OTS, but are related to markers of decreased performance. Monitoring dietary intake, and fatigue may be predictive markers to assess OTS and training status of female ER.

  2. Excessive eccentric exercise leads to transitory hypothalamic inflammation, which may contribute to the low body weight gain and food intake in overtrained mice.

    PubMed

    Pereira, B C; da Rocha, A L; Pauli, J R; Ropelle, E R; de Souza, C T; Cintra, D E; Sant'Ana, M R; da Silva, A S R

    2015-12-17

    Low body weight gain and food intake are related to exhaustive training and overtraining; however, the molecular mechanisms responsible for these alterations remain unknown. The main aim of this study was to evaluate the effects of running overtraining (OT) protocols performed downhill, uphill and without inclination on the inflammatory pathway in the mouse hypothalamus. The rodents were randomized into the control (C), overtrained by downhill running (OTR/down), overtrained by uphill running (OTR/up) and overtrained by running without inclination (OTR) groups. The body weights and food intake were recorded daily. The incremental load, exhaustive, rotarod and grip force tests were used to measure performance. At 36 h after the grip force test was performed at the end of OT protocols (i.e., week eight) and/or after a 2-week total recovery period (i.e., week 10), the hypothalamus and gastrocnemius were extracted for immunoblotting analysis. In addition, the serum was used to determine cytokine and leptin concentrations. From week 0 to week 8, the OTR/down group exhibited decreased body weight and food intake, and the OTR/up group increased their food intake. At week 10, the OTR/down group exhibited increased body weight, while the OTR group decreased their food intake. The OTR/down group exhibited increased IL-1beta, IL-6, TNF-alpha, pSAPK/JNK and SOCS3 levels at week eight. The OTR/down, OTR/up and OTR groups exhibited increased IL-10 levels at week 10. The OTR/up group displayed increased pJAK2 levels at week eight. While the OTR/down group exhibited increased IL-1beta levels, the OTR/down and OTR/up groups exhibited increased IL-6 and TNF-alpha levels, but decreased IL-10 levels in the gastrocnemius at week eight. The three OT protocols increased the IL-1beta and IL-6 levels, but only the OTR/down and OTR/up groups had increased TNF-alpha levels in serum at week eight. The serum leptin levels were lower for the OTR group compared with the CT group at week eight

  3. Avoid Overtraining in Young Athletes

    ERIC Educational Resources Information Center

    Rearick, Matt; Creasy, John; Buriak, Jim

    2011-01-01

    Each year many young athletes suffer injuries from overtraining. According to the existing literature, strategies do exist to help control this growing problem. This article explores the basic nature of training and overtraining, with a particular emphasis on endurance athletes. Several psychological factors are highlighted as the first clear…

  4. Overtraining and exercise motivation: A research prospectus

    NASA Technical Reports Server (NTRS)

    Hackney, Anthony C.

    1989-01-01

    The problems of exercise overtraining has recently become one of great interest to professionals in the field of human performance assessment. Quite obviously, the ultimate goal of the training process is to improve physical performance. However, excessive training can result in the opposite effect, that is, a performance decline and an impairment in the functional work capacity of the body. Research indicates that both psychological as well as physiological disturbances are quite common in overtrained individuals. For example, psychological changes include increased levels of depression, fatigue, and a lack of motivation. Similarly, impairment of the physiological function of the cardiovascular, metabolic, and endocrine systems also have been found. Some similarities may be found in the psychological and physiological states of crew members exposed to extended space flight and overtrained individuals. Therefore, the possibility exists that the crew members subjected to extended missions in space may develop overstressed or overtrained or both states during their flights. If such states do develop within the crew members, mission performance may be impaired. With these points as a background, the intent is to address potential research directions that NASA may consider viable and of a mutual interest to the researcher. A clear framework by which to begin discussion of research topics is needed; therefore, working definitions of overtraining and exercise motivation are presented. Subsequently, a proposed conceptional model of how exercise overtraining and motivation interact is presented. In support of the proposed model is a brief literature review of relevant areas. Potential research projects are presented and discussed.

  5. Trainability of Young Athletes and Overtraining

    PubMed Central

    Matos, Nuno; Winsley, Richard J.

    2007-01-01

    Exercise adaptations to strength, anaerobic and aerobic training have been extensively studied in adults, however, young people appear to respond differently to such exercise stimulus in comparison to adults. In addition, because overtraining in young athletes has received little attention, this important area is also discussed. Resistance training in children can be safe and effective. It has the potential to improve sport performance, enhance body composition and reduce the rate of sport incurred injury. Furthermore, with the appropriate stimulus, prepubertal and adolescent athletes can show significant increments in muscle strength (13 - 30%). Children can improve anaerobic power (3%-10% Mean Power and 4%-20% in Peak Power), although the mechanisms responsible for the improvements in children remain unclear. Children show a ‘reduced’ trainability of peak VO2 in comparison to adults. Nevertheless, their aerobic power is trainable, with improvements reported at approximately 5%. Moreover, improvements in other variables like exercise economy or lactate threshold may occur without significant changes in peak VO2 The limited evidence available indicates that overtraining is occurring in young athletes (30% prevalence), highlighting the importance of further research in to all the possible contributing factors - physiological, psychological and emotional - when investigating overtraining. Key pointsChildren’s strength, anaerobic and aerobic power is trainable, although the improvements may be smaller than seen in adults.Children can demonstrate significant gains in muscle strength with resistance training (13 - 30%).Improvements in mean power (3 - 10%) and peak power (4 - 20%) are reported in children.Aerobic fitness can improve with training in children by approximately 5%.Limited available evidence indicates an occurrence of overtraining in young athletes of around 30%. PMID:24149422

  6. Decrease in heart rate variability with overtraining: assessment by the Poincaré plot analysis.

    PubMed

    Mourot, Laurent; Bouhaddi, Malika; Perrey, Stéphane; Cappelle, Sylvie; Henriet, Marie-Thérèse; Wolf, Jean-Pierre; Rouillon, Jean-Denis; Regnard, Jacques

    2004-01-01

    Numerous symptoms have been associated with the overtraining syndrome (OT), including changes in autonomic function. Heart rate variability (HRV) provides non-invasive data about the autonomic regulation of heart rate in real-life conditions. The aims of the study were to: (i) characterize the HRV profile of seven athletes (OA) diagnosed as suffering of OT, compared with eight healthy sedentary (C) and eight trained (T) subjects during supine rest and 60 degrees upright, and (ii) compare the traditional time- and frequency-domain analysis assessment of HRV with the non-linear Poincaré plot analysis. In the latter each R-R interval is plotted as a function of the previous one, and the standard deviations of the instantaneous (SD1) and long-term R-R interval variability are calculated. Total power was higher in T than in C and OA both in supine (1158 +/- 1137, 6092 +/- 3554 and 2970 +/- 2947 ms2 for C, T and OA, respectively) and in upright (640 +/- 499, 1814 +/- 806 and 1092 +/- 712 ms2 for C, T and OA, respectively; P<0.05) positions. In supine position, indicators of parasympathetic activity to the sinus node were higher in T compared with C and OA (high-frequency power: 419.1 +/- 381.2, 1105.3 +/- 781.4 and 463.7 +/- 715.8 ms2 for C, T and OA, respectively; P<0.05; SD1: 29.5 +/- 18.5, 75.2 +/- 17.2 and 37.6 +/- 27.5 for C, T and OA, respectively; P<0.05). OA had a marked predominance of sympathetic activity regardless of the position (LF/HF were 0.47 +/- 0.35, 0.47 +/- 0.50 and 3.96 +/- 5.71 in supine position for C, T and OA, respectively, and 2.09 +/- 2.17, 7.22 +/- 6.82 and 12.04 +/- 10.36 in upright position for C, T and OA, respectively). The changes in HRV indexes induced by the upright posture were greater in T than in OA. The shape of the Poincaré plots allowed the distinction between the three groups, with wide and narrow shapes in T and OA, respectively, compared with C. As Poincaré plot parameters are easy to compute and associated with the 'width

  7. Training and overtraining markers in selected sport events.

    PubMed

    Hartmann, U; Mester, J

    2000-01-01

    Varieties of symptoms are supposed to detect overtraining (OT). Besides the problems of diagnosis and analysis in elite athletes, a daily monitoring of training status takes place with measurement of the parameters serum urea (SU) and serum creatine kinase (CK); therefore, their meaningfulness will be examined, with special respect inter- and intra-individually. Data were obtained from determinations during training from athletes in rowing and athletes of international level. For 6981 SU determinations (male, N = 717; female, N = 285), a slightly asymmetric normal distribution was found (male, 80%, 5-7 mmol x L(-1); female, 75%, 4-6 mmol x L(-1)). Values for women were approximately 1.5 mmol x L(-1) lower. Individual variability was enormous; there seems little point in setting fixed value as 8.3 mmol x L(-1) for men and 7.0 mmol x L(-1) for women as a critical limit for OT. CK has also been measured and evaluated in sports as an essential parameter for determination of muscular stress. Frequency distributions of CK in 2790 samples (male, N = 497; female, N = 350) presented an asymmetric normal distribution with distinct trend toward higher values being evident for the range between 100 and 250 U x L(-1). Conspicuously elevated values occurred in the ranges 250-350 U x L(-1) and 1000-2000 U x L(-1). Men's maximal values were 3000 U x L(-1) and 1150 U x L(-1) for women. Individual variability was enormous. Athletes with chronically low CK exhibited mainly low variability; those with chronically higher values exhibited considerable variability. Establishment of both parameters should be useful to determine individual baselines from a large number of samples. Determinations should be made at least every 3 d in standardized conditions. If a large increase is observed in combination with reduced exercise tolerance after a phase of exertion (2-4 d), then the possibility of a catabolic/metabolic activity or insufficient exercise tolerance becomes much more likely.

  8. Plasma glutamine and upper respiratory tract infection during intensified training in swimmers.

    PubMed

    Mackinnon, L T; Hooper, S L

    1996-03-01

    The purposes of this study were to determine the effects of 4 wk of intensified training on resting plasma glutamine concentration, and to determine whether changes in plasma glutamine concentration relate to the appearance of upper respiratory tract infection (URTI) in swimmers during intensified training. Resting plasma glutamine concentration was measured by high performance liquid chromatography in 24 elite swimmers (8 male, 16 female, ages 15-26 yr) during 4 wk of intensified training (increased volume). Symptoms of overtraining syndrome (OT) were identified in eight swimmers (2 male, 6 female) based on decrements in swim performance and persistent high fatigue ratings; non-overtrained subjects were considered well-trained (WT). Ten of 24 swimmers (42%, 1 OT and 9 WT) exhibited URTI during the study. Plasma glutamine concentration increased significantly (P = 0.04, ANOVA) over the 4 wk, but the increase was significant only in WT swimmers (P < 0.05, post-hoc analysis). Compared with WT, plasma glutamine was significantly lower in OT at the mid-way timepoint only (P < 0.025, t-test with Bonferroni correction). There was no significant difference in glutamine levels between athletes who developed URTI and those who did not. These data suggest that plasma glutamine levels may not necessarily decrease during periods of intensified training, and that the appearance of URTI is not related to changes in plasma glutamine concentration in overtrained swimmers.

  9. Effects of Tribulus terrestris saponins on exercise performance in overtraining rats and the underlying mechanisms.

    PubMed

    Yin, Liang; Wang, Qian; Wang, Xiaohui; Song, Liang-Nian

    2016-06-22

    The objective of this study was to determine the effects of Tribulus terrestris L. (TT) saponins on exercise performance and the underlying mechanisms. A rat overtraining model was established and animals were treated with TT extracts (120 mg/kg body mass) 30 min before each training session. Serum levels of testosterone and corticosterone and levels of androgen receptor (AR) and insulin growth factor-1 receptor (IGF-1R) in the liver, gastrocnemius, and soleus were determined by ELISA and Western blot. Treatment of rats with TT saponins significantly improved the performance of the overtraining rats, reflected by the extension of time to exhaustion, with a concomitant increase in body mass, relative mass, and protein levels of gastrocnemius. Overtraining alone induced a significant decrease in the serum level of testosterone. In contrast, treatment with TT saponins dramatically increased the serum level of testosterone in overtraining rats to about 150% of control and 216% of overtraining groups, respectively. In addition, TT saponins resulted in a further significant increase in AR in gastrocnemius and significantly suppressed the overtraining-induced increase in IGF-1R in the liver. These results indicated that TT saponins increased performance, body mass, and gastrocnemius mass of rats undergoing overtraining, which might be attributed to the changes in androgen-AR axis and IGF-1R signaling.

  10. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

    PubMed

    Weksberg, Rosanna; Shuman, Cheryl; Caluseriu, Oana; Smith, Adam C; Fei, Yan-Ling; Nishikawa, Joy; Stockley, Tracy L; Best, Lyle; Chitayat, David; Olney, Ann; Ives, Elizabeth; Schneider, Adele; Bestor, Timothy H; Li, Madeline; Sadowski, Paul; Squire, Jeremy

    2002-05-15

    Beckwith-Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor predisposition and other congenital abnormalities, and is usually associated with abnormalities of chromosome 11p15. A number of identical twin pairs, mostly female, have been reported to be discordant for BWS. We show here that the incidence of female monozygotic twins among patients with BWS is dramatically increased over that of the general population. A cluster of imprinted genes within 11p15 is thought to be coordinately regulated via the imprinted expression of KCNQ1OT1, which encodes an untranslated RNA. In skin fibroblasts from five monozygotic twin pairs discordant for BWS, each affected twin had an imprinting defect at KCNQ1OT1 on 11p15, whereas the unaffected twin did not. Five additional monozygotic twin pairs, for whom only blood was available, also displayed an imprinting defect at KCNQ1OT1. It is possible that discordance for BWS in MZ twins is due to unequal splitting of the inner cell mass during twinning, thereby causing differential maintenance of imprinting at KCNQ1OT1. Alternatively, we propose that KCNQ1OT1 is especially vulnerable to a loss of imprinting event, caused by a lack of maintenance DNA methylation at a critical stage of preimplantation development, and that this loss of imprinting predisposes to twinning as well as to discordance for BWS. These data underscore the importance of continued surveillance of children born following assisted reproductive technologies that impact the preimplantation embryo.

  11. Discriminative functions and over-training as class-enhancing determinants of meaningful stimuli.

    PubMed

    Travis, Robert W; Fields, Lanny; Arntzen, Erik

    2014-07-01

    Likelihood of equivalence class formation (yield) was influenced by pre-class formation of simultaneous and successive discriminations, their mastery criteria, and overtraining of the successive discriminations. Each undergraduate in seven groups attempted to form two 3-node, 5-member equivalence classes (ABCDE). In the pictorial (PIC) group, meaningless nonsense syllables were used as the A, B, D, and E stimuli and meaningful pictures as the C stimuli. Nonsense syllables only were used in the other groups. The abstract (ABS) or 0-0-0 group involved no pre-class training. In the 84-0-0, 84-5-0 and 84-20-0 groups, simultaneous discriminations were trained among C stimuli to a mastery criterion of 84 trials, followed by successive discriminations trained to mastery criteria of 0, 5, and 20 trials, respectively. In the 84-20-0, 84-20-100, and 84-20-500 groups, simultaneous and successive discriminations were trained as noted, followed by overtraining with 0, 100, 500 successive-discrimination trials, respectively. The ABS group produced a 6% yield with the 84-0-0, 84-5-0, and 84-20-0 groups producing further modest increments. Overtraining produced a linear increase in yield, reaching 85% after 500 overtraining trials, a yield matching that produced by classes containing pictures as C stimuli (PIC). Thus, acquired discriminative functions and the overtraining of at least one function can account for class enhancement by meaningful stimuli. © Society for the Experimental Analysis of Behavior.

  12. Downregulation of Long Non-Coding RNA Kcnq1ot1: An Important Mechanism of Arsenic Trioxide-Induced Long QT Syndrome.

    PubMed

    Jiang, Yanan; Du, Weijie; Chu, Qun; Qin, Ying; Tuguzbaeva, Gulnara; Wang, Hui; Li, Anqi; Li, Guiyang; Li, Yanyao; Chai, Lu; Yue, Er; Sun, Xi; Wang, Zhiguo; Pavlov, Valentin; Yang, Baofeng; Bai, Yunlong

    2018-01-01

    Arsenic trioxide (ATO) is a known anti-acute promyelocytic leukemia (APL) reagent, whose clinical applications are limited by its serious cardiac toxicity and fatal adverse effects, such as sudden cardiac death resulting from long QT syndrome (LQTS). The mechanisms of cardiac arrhythmia due to ATO exposure still need to be elucidated. Long non-coding RNAs (lncRNAs) are emerging as major regulators of various pathophysiological processes. This study aimed to explore the involvement of lncRNAs in ATO-induced LQTS in vivo and in vitro. For in vivo experiments, mice were administered ATO through the tail vein. For in vitro experiments, ATO was added to the culture medium of primary cultured neonatal mouse cardiomyocytes. To evaluate the effect of lncRNA Kcnq1ot1, siRNA and lentivirus-shRNA were synthesized to knockdown lncRNA Kcnq1ot1. After ATO treatment, the Kcnq1ot1 and Kcnq1 expression levels were down regulated. lncRNA Kcnq1ot1 knockdown prolonged the action potential duration (APD) in vitro and exerted LQTS in vivo. Correspondingly, Kcnq1 expression was decreased after silencing lncRNA Kcnq1ot1. However, the knockdown of Kcnq1 exerted no effect on lncRNA Kcnq1ot1 expression. To our knowledge, this report is the first to demonstrate that lncRNA Kcnq1ot1 downregulation is responsible for QT interval prolongation induced by ATO at least partially by repressing Kcnq1 expression. lncRNA Kcnq1ot1 has important pathophysiological functions in the heart and could become a novel antiarrhythmic target. © 2018 The Author(s). Published by S. Karger AG, Basel.

  13. Combating Training-Stress Syndromes.

    ERIC Educational Resources Information Center

    Voight, Mike

    2002-01-01

    Addresses the nature and ramifications of various training stress syndromes (overtraining, under-recovery, distress, staleness, and burnout) that can accompany inappropriate training practices, examining the interventions that players and coaches can use to combat these syndromes (including physical, psychological, and performance interventions),…

  14. Protein and Overtraining: Potential Applications for Free-Living Athletes

    PubMed Central

    Lowery, Lonnie; Forsythe, Cassandra E

    2006-01-01

    Despite a more than adequate protein intake in the general population, athletes have special needs and situations that bring it to the forefront. Overtraining is one example. Hard-training athletes are different from sedentary persons from the sub-cellular to whole-organism level. Moreover, competitive, "free-living" (less-monitored) athletes often encounter negative energy balance, sub-optimal dietary variety, injuries, endocrine exacerbations and immune depression. These factors, coupled with "two-a-day" practices and in-season demands require that protein not be dismissed as automatically adequate or worse, deleterious to health. When applying research to practice settings, one should consider methodological aspects such as population specificity and control variables such as energy balance. This review will address data pertinent to the topic of athletic protein needs, particularly from a standpoint of overtraining and soft tissue recovery. Research-driven strategies for adjusting nutrition and exercise assessments will be offered for consideration. Potentially helpful nutrition interventions for preventing and treating training complications will also be presented. PMID:18500962

  15. Reverse effects of DPI administration combined with glutamine supplementation on function of rat neutrophils induced by overtraining.

    PubMed

    Dong, Jingmei; Chen, Peijie; Liu, Qing; Wang, Ru; Xiao, Weihua; Zhang, Yajun

    2013-04-01

    To examine the excessive reactive oxygen species (ROS) mediated by nicotinamide adenine dinucleotide phosphate (NADPH) oxidase and the combined effect of glutamine supplementation and diphenyleneiodonium (DPI) on the function of neutrophils induced by overtraining. Fifty male Wistar rats were randomly divided into 5 groups: control group (C), overtraining group (E), DPI-administration group (D), glutamine-supplementation group (G), and combined DPI and glutamine group (DG). Blood was sampled from the orbital vein after rats were trained on treadmill for 11 wk. Cytokine and lipid peroxidation in blood plasma were measured by enzyme-linked immunosorbent assay. The colocalization between gp91phox and p47phox of the NADPH oxidase was detected using immunocytochemistry and confocal microscopy. The activity of NADPH oxidase was assessed by chemiluminescence. Neutrophils' respiratory burst and phagocytosis function were measured by flow cytometry. NADPH oxidase was activated by overtraining. Cytokine and lipid peroxidation in blood plasma and the activity of NADPH oxidase were markedly increased in Group E compared with group C. Neutrophil function was lower in group E than group C. Both lower neutrophils function and higher ROS production were reversed in Group DG. The glutamine and DPI interference alone in group D and group G was less effective than DPI and glutamine combined in group DG. Activation of NADPH oxidase is responsible for the production of superoxide anions, which leads to excessive ROS and is related to the decrease in neutrophil function induced by overtraining. The combined DPI administration and glutamine supplementation reversed the decreased neutrophil function after overtraining.

  16. Preventing overtraining in athletes in high-intensity sports and stress/recovery monitoring.

    PubMed

    Kellmann, M

    2010-10-01

    In sports, the importance of optimizing the recovery-stress state is critical. Effective recovery from intense training loads often faced by elite athletes can often determine sporting success or failure. In recent decades, athletes, coaches, and sport scientists have been keen to find creative, new methods for improving the quality and quantity of training for athletes. These efforts have consistently faced barriers, including overtraining, fatigue, injury, illness, and burnout. Physiological and psychological limits dictate a need for research that addresses the avoidance of overtraining, maximizes recovery, and successfully negotiates the fine line between high and excessive training loads. Monitoring instruments like the Recovery-Stress Questionnaire for Athletes can assist with this research by providing a tool to assess their perceived state of recovery. This article will highlight the importance of recovery for elite athletes and provide an overview of monitoring instruments. © 2010 John Wiley & Sons A/S.

  17. Overview of OT

    SciTech Connect

    Pate, R.; Dooley, R.B.

    1995-01-01

    At the last International Fossil Cycle Chemistry Conference in June 1991, a report was given on the Electric Power Research Institute (EPRI) sponsored project to study and transfer technology on the use of oxygenated feedwater treatment (OT). The report basically summarized the excellent results of employing OT worldwide, and updated the project activities which included development of an EPRI guidance document for implementation of OT in US utilities. Since the OT conversions of Georgia Power`s Wansley Unit No. 1 and Ohio Edison`s Sammis Unit 5 in November 1991, over 30 once-through units have subsequently been converted. In 1994, the firstmore » US drum unit was converted. The results have been outstanding with very large reductions of feedwater corrosion products (usually Fe<1 ppb at the economizer inlet) as a result of the more oxidizing environment (>+120 mV) and the change of the surface oxide layer from magnetite to ferric oxide hydrate (FeOOH) throughout the feedwater system. The benefits accrue because FeOOH blocks the pores of original Fe{sub 3}O{sub 4} reducing the transport of oxygen and iron ions through the layer. These surface layers of FeOOH also have a much lower solubility in flowing feedwater. This paper will provide an overview of the two supercritical/subcritical unit feedwater treatment technologies, (OT & AVT). In addition, the results of the two EPRI OT demonstration units (Wansley 1, Georgia Power Co. & Sammis 5, Ohio Edison) will be presented.« less

  18. Excessive training impairs the insulin signal transduction in mice skeletal muscles.

    PubMed

    Pereira, Bruno C; da Rocha, Alisson L; Pinto, Ana P; Pauli, José R; de Moura, Leandro P; Mekary, Rania A; de Freitas, Ellen C; da Silva, Adelino S R

    2016-07-01

    The main aim of this investigation was to verify the effects of overtraining (OT) on the insulin and inflammatory signaling pathways in mice skeletal muscles. Rodents were divided into control (CT), overtrained by downhill running (OTR/down), overtrained by uphill running (OTR/up), and overtrained by running without inclination (OTR) groups. Rotarod, incremental load, exhaustive, and grip force tests were used to evaluate performance. Thirty-six hours after the grip force test, the extensor digitorum longus (EDL) and soleus were extracted for subsequent protein analyses. The three OT protocols led to similar responses of all performance evaluation tests. The phosphorylation of insulin receptor beta (pIRβ; Tyr), protein kinase B (pAkt; Ser473), and the protein levels of plasma membrane glucose transporter-4 (GLUT4) were lower in the EDL and soleus after the OTR/down protocol and in the soleus after the OTR/up and OTR protocols. While the pIRβ was lower after the OTR/up and OTR protocols, the pAkt was higher after the OTR/up in the EDL. The phosphorylation of IκB kinase alpha and beta (pIKKα/β; Ser180/181), stress-activated protein kinases/Jun amino-terminal kinases (pSAPK-JNK; Thr183/Tyr185), factor nuclear kappa B (pNFκB p65; Ser536), and insulin receptor substrate 1 (pIRS1; Ser307) were higher after the OTR/down protocol, but were not altered after the two other OT protocols. In summary, these data suggest that OT may lead to skeletal muscle insulin signaling pathway impairment, regardless of the predominance of eccentric contractions, although the insulin signal pathway impairment induced in OTR/up and OTR appeared to be muscle fiber-type specific. © 2016 Society for Endocrinology.

  19. Chronic Fatigue Syndrome: How Vulnerable Are Athletes?

    ERIC Educational Resources Information Center

    Eichner, Edward R.

    1989-01-01

    Discusses chronic fatigue syndrome as it affects elite athletes, noting that overtraining may mimic it. In some cases, athletes who have it perform exceedingly well in the face of debilitating fatigue. Among athletes and nonathletes, the cause and the mind-body connection are areas of controversy and research. (Author/SM)

  20. [Research on the mechanism and regulation of overtraining-related the function of neutrophils by the inhibitor of NADPH oxidase and glutamine supplementation].

    PubMed

    Dong, Jing-Mei; Chen, Pei-Jie

    2013-07-01

    To investigate the method and mechanism for exercise-related immunosuppression via the inhibitor of NADPH oxidase diphenyleneiodonium(DPI) and glutamine supplementation and on the function of neutrophils after overtraining. Fifty male Wistar rats were randomly divided into five groups: a negative control group (C), an overtraining group (E), an overtraining + DPI intervention group (D), an overtraining+ glutamine supplementation group(G) and combined glutamine + DPI intervention group(DG). After 36 - 40 h from the last training, eight rats were randomly selected from each group, and blood was sampled from the orbital vein. ELISAs were used to measure serum cytokine levels and lipid peroxidation in blood plasma. Flow cytometry was used to measure neutrophil respiratory burst and phagocytosis. The activity of NADPH oxidase was assessed by chemiluminescence and the gene expression of gp91(phox) and p47(phox) of the NADPH-oxidase subunit was checked by Western blot. Compared with group C, the plasma concentrations of NO increased in group G, and the NO, cytokine-induced neutrophil chemoattractant (CINC) concentrations in group DG increased significantly. The respiratory burst and phagocytosis function of neutrophils were decreased in group E, but in group DG were increased when compared with those of group E. After overtraining the expression of gp91(phox) and p47(phox) was up regulated in group E. There were no significant changes in other groups except group DG, in which the expression of gp91(phox) was down regulated. Compared with group E, the expression of gp91(phox) and p47(phox) was up regulated in group D, group G and group DG. The activation of NADPH oxidase is responsible for the production of superoxide anions, which may be related to the decrease in neutrophil function after over training and is the mechanism of exercise-related immunosuppression. The DPI treatment combined glutamine supplementation can reverse the decrease neutrophils function after

  1. Absence of the predisposing factors and signs and symptoms usually associated with overreaching and overtraining in physical fitness centers.

    PubMed

    Ackel-D'Elia, Carolina; Vancini, Rodrigo Luiz; Castelo, Adauto; Nouailhetas, Viviane Louise Andrée; Silva, Antonio Carlos da

    2010-01-01

    The aim of this study was to evaluate the occurrence of the well-known predisposing factors and signs and symptoms usually associated with either overreaching or overtraining syndrome in physical fitness centers in São Paulo City, Brazil. A questionnaire consisting of 13 question groups pertaining to either predisposing factors (1-7) or signs and symptoms (8-13) was given to 413 subjects. The general training schedule of the volunteers was characterized by workout sessions of 2.18 ± 0.04 h for a total of 11.0 ± 0.3 h/week for 33 ± 2 months independent of the type of exercise performed (walking, running, spinning, bodybuilding and stretching). A mean score was calculated ranging from 1 (completely absent) to 5 (severe) for each question group. A low occurrence was considered to be a question group score lower than 4, which was observed in all 13 question groups. The psychological evaluation by POMS Mood State Questionnaire indicated a normal non-inverted iceberg. The hematological parameters, creatine kinase activity, cortisol, total testosterone and free testosterone concentrations were within the normal ranges for the majority of the volunteers selected for this analysis (n = 60). According to the questionnaire score analysis, no predisposing factors or signs and symptoms usually associated with either overreaching or overtraining were detected among the members of physical fitness centers in São Paulo City, Brazil. This observation was corroborated by the absence of any significant hematological or stress hormone level alterations in blood analyses of the majority of the selected volunteers (n = 60).

  2. Organic field-effect transistor with octadecyltrichlorosilane (OTS) self-assembled monolayers on gate oxide: effect of OTS quality

    NASA Astrophysics Data System (ADS)

    Devynck, M.; Tardy, P.; Wantz, G.; Nicolas, Y.; Hirsch, L.

    2011-12-01

    The effect of OTS (octadecyltrichlorosilane) Self-Assembled Monolayer (SAM) grafted on SiO2 gate dielectric of pentacene-based OFETs (organic field-effect transistors) is investigated. A significant improvement of the charge mobility (μ), up to 0.74 cm2/V s, is reached thanks to OTS treatment. However, in spite of improved performances, several drawbacks, such as an increase in mobility dispersion, substantial hysteresis in IDS-VG characteristics and high threshold voltages (VT), are observed. Changing solvent and deposition method turns out to have no significant effect on the mobility dispersion. A more accurate approach on the evolution of the mobility and the threshold voltage dispersion with OTS storage time highlights the effect of the OTS solution aging. Even if no difference is evidenced in the surface energy and roughness of the OTS layer, electrical characteristics exhibit considerable deterioration with OTS solution storage time. Using an "aged" OTS solution, opened under air, kept under argon and distilled before use, results in an increase of the IDS-VG hysteresis as well as in VT and in mobility dispersion. In comparison, fresh-OTS-based OFETs present a very low hysteresis, a threshold voltage close to 0 and a much lower mobility dispersion. It is demonstrated that aged OTS solutions contain impurities that are not removed by distillation process, which leads to a less densely packed layer causing interfacial charge traps thus deteriorated performances.

  3. Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders

    PubMed Central

    Francis, S.M.; Sagar, A.; Levin-Decanini, T.; Liu, W.; Carter, C.S.; Jacob, S.

    2015-01-01

    Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT and AVP systems have been investigated in Autism Spectrum Disorder (ASD), Prader–Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS). All of these neurodevelopmental disorders (NDD) are marked by social deficits. While PWS, WS and FXS have identified genetic mutations, ASD stems from multiple genes with complex interactions. Animal models of NDD are invaluable for studying the role and relatedness of OT and AVP in the developing brain. We present data from a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased OT and AVP staining cells in some brain regions. Reviewing the research about OT and AVP in these NDD suggests that altered OT pathways may be downstream from different etiological factors and perturbations in development. This has implications for ongoing studies of the therapeutic application of OT in NDD. PMID:24462936

  4. Master-Saao new OT

    NASA Astrophysics Data System (ADS)

    Balanutsa, P.; Lipunov, V.; Buckley, D.; Gorbovskoy, E.; Kornilov, V.; Tiurina, N.; Kuznetsov, A.; Vladimirov, V.; Vlasenko, D.; Chazov, V.; Gress, O.; Zimnukhov, D.; Kuvshinov, D.; Shumkov, V.; Gorelkina, V.; Pogrosheva, T.; Gabovich, A.

    2018-04-01

    MASTER-SAAO auto-detection system ( Lipunov et al., "MASTER Global Robotic Net", Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 18h 58m 35.32s -35d 40m 42.2s on 2018-04-12.08618 UT. The OT unfiltered magnitude is (mlim=19.0).

  5. Absence of the predisposing factors and signs and symptoms usually associated with overreaching and overtraining in physical fitness centers

    PubMed Central

    Ackel‐D'Elia, Carolina; Vancini, Rodrigo Luiz; Castelo, Adauto; Nouailhetas, Viviane Louise Andrée; da Silva, Antonio Carlos

    2010-01-01

    OBJECTIVE: The aim of this study was to evaluate the occurrence of the well‐known predisposing factors and signs and symptoms usually associated with either overreaching or overtraining syndrome in physical fitness centers in São Paulo City, Brazil. METHOD: A questionnaire consisting of 13 question groups pertaining to either predisposing factors (1‐7) or signs and symptoms (8‐13) was given to 413 subjects. The general training schedule of the volunteers was characterized by workout sessions of 2.18 ± 0.04 h for a total of 11.0 ± 0.3 h/week for 33 ± 2 months independent of the type of exercise performed (walking, running, spinning, bodybuilding and stretching). A mean score was calculated ranging from 1 (completely absent) to 5 (severe) for each question group. A low occurrence was considered to be a question group score lower than 4, which was observed in all 13 question groups. RESULTS: The psychological evaluation by POMS Mood State Questionnaire indicated a normal non‐inverted iceberg. The hematological parameters, creatine kinase activity, cortisol, total testosterone and free testosterone concentrations were within the normal ranges for the majority of the volunteers selected for this analysis (n  =  60). CONCLUSION: According to the questionnaire score analysis, no predisposing factors or signs and symptoms usually associated with either overreaching or overtraining were detected among the members of physical fitness centers in São Paulo City, Brazil. This observation was corroborated by the absence of any significant hematological or stress hormone level alterations in blood analyses of the majority of the selected volunteers (n  =  60). PMID:21243291

  6. 12 CFR 510.5 - Release of unpublished OTS information.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... parties to lawsuits in which the OTS is not a party. (2) Unpublished OTS information includes records created or obtained in connection with the OTS's performance of its responsibilities, such as records... affiliates, and records compiled in connection with the OTS's enforcement responsibilities. Unpublished OTS...

  7. 12 CFR 510.5 - Release of unpublished OTS information.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... parties to lawsuits in which the OTS is not a party. (2) Unpublished OTS information includes records created or obtained in connection with the OTS's performance of its responsibilities, such as records... affiliates, and records compiled in connection with the OTS's enforcement responsibilities. Unpublished OTS...

  8. Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders.

    PubMed

    Francis, S M; Sagar, A; Levin-Decanini, T; Liu, W; Carter, C S; Jacob, S

    2014-09-11

    Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT and AVP systems have been investigated in Autism Spectrum Disorder (ASD), Prader-Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS). All of these neurodevelopmental disorders (NDD) are marked by social deficits. While PWS, WS and FXS have identified genetic mutations, ASD stems from multiple genes with complex interactions. Animal models of NDD are invaluable for studying the role and relatedness of OT and AVP in the developing brain. We present data from a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased OT and AVP staining cells in some brain regions. Reviewing the research about OT and AVP in these NDD suggests that altered OT pathways may be downstream from different etiological factors and perturbations in development. This has implications for ongoing studies of the therapeutic application of OT in NDD. This article is part of a Special Issue entitled Oxytocin and Social Behav. Copyright © 2014. Published by Elsevier B.V.

  9. MASTER-OAFA: new OT outburst

    NASA Astrophysics Data System (ADS)

    Savinov, D.; Shumkov, V.; Lipunov, V.; Podesta, R.; Levato, H.; Kornilov, V.; Gorbovskoy, E.; Tiurina, N.; Gorbunov, I.; Balanutsa, P.; Kuznetsov, A.; Ishmuhametova, Yu.; Chazov, V.; Vlasenko, D.; Vladimirov, V.; Gress, O.; Pogrosheva, T.; Zimnukhov, D.; Lopez, C.; Podesta, F.; Saffe, C.; Senik, V.; Gabovich, A.; Kuvshinov, D.

    2018-04-01

    MASTER-OAFA auto-detection system ( Lipunov et al., "MASTER Global Robotic Net", Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 09h 09m 00.56s +04d 49m 04.1s on 2018-04-16.11132 UT. The OT unfiltered magnitude is 17.2m (mlim=19.3m).

  10. High amplutude bright OT detected by MASTER-OAFA

    NASA Astrophysics Data System (ADS)

    Shumkov, V.; Lipunov, V.; Podesta, R.; Levato, H.; Pogrosheva, T.; Gorbovskoy, E.; Tiurina, N.; Balanutsa, P.; Kuznetsov, A.; Kornilov, V.; Chazov, V.; Vlasenko, D.; Vladimirov, V.; Gress, O.; Gorbunov, I.; Krylov, A.; Lopez, C.; Podesta, F.

    2018-05-01

    MASTER-OAFA auto-detection system ( Lipunov et al., "MASTER Global Robotic Net",Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 17h 08m 14.73s -19d 05m 58.3s on 2018-05-12.37420 UT.The OT unfiltered magnitude is 15.9m (mlim=18.2m).The OT is seen in 4 images.

  11. On the mechanism of chromophototherapy used in sports medicine and rehabilitation

    NASA Astrophysics Data System (ADS)

    Tang, Mian; Liu, Timon C.

    2005-01-01

    Light is the primary stimulus for regulating circadian rhythms, seasonal cycles, and neuroendocrine responses in many species, including humans. The major circadian pacemaker in the hypothalamic suprachiasmatic nucleus is entrained to the light/dark cycles from the outside world by circadian photoreceptors which are functionally characterized by the direct sensitivity to light with broad spectrum and the relatively high stability. Chromophototherapy mediated by the color indirect effect (CIE), the physiological and psychological effects of color resulting from color vision, is functionally characterized by the sensitivity to light with narrow spectrum and the relatively low stability. In this paper, the mechanism of chromophototherapy used in sports medicine and rehabilitation, especially in treating overtraining syndrome (OTS), was discussed. Although several hypotheses and the corresponding OTS treatments have been proposed, each only explains and treats a selective aspect of OTS. On the one hand, an autonomic or neuroendocrine imbalance is hypothesized as underlying by Lehmann et al so that the described functional alterations of pituitary-adrenal axis and sympathetic system can explain persistent performance incompetence in affected athletes beside additional mechanisms. On the other hand, cold color (green, blue or violet) excites parasympathetic subsystem and hot color (red, orange or yellow) excites sympathetic subsystem for chromophototherapy. The conclusion was then drawn that chromophototherapy might be a good therapy to treat OTS.

  12. MASTER: OT in M31 direction

    NASA Astrophysics Data System (ADS)

    Balanutsa, P.; Lipunov, V.; Kornilov, V.; Gorbovskoy, E.; Tiurina, N.; Gorbunov, I.; Senik, V.; Chazov, V.; Kuznetsov, A.; Vladimirov, V.; Vlasenko, D.; Zimnukhov, D.; Tlatov, O. Gress A.; Shumkov, A. Gabovich V.; Pogrosheva, T.

    2018-06-01

    MASTER-Kislovodsk auto-detection system ( Lipunov et al., "MASTER Global Robotic Net", Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 00h 43m 55.89s +41d 32m 09.9s on 2018-06-20.98169 UT. The OT unfiltered magnitude is 19.0m (limit 19.6m).

  13. Selective and non-selective OT receptor agonists induce different locomotor behaviors in male rats via central OT receptors and peripheral V1a receptors.

    PubMed

    Wolfe, Monica; Wisniewska, Halina; Tariga, Hiroe; Ibanez, Gerardo; Collins, James C; Wisniewski, Kazimierz; Qi, Steve; Srinivasan, Karthik; Hargrove, Diane; Lindstrom, Beatriz Fioravanti

    2018-05-21

    Oxytocin (OT) continues to inspire much research due to its diverse physiological effects. While the best-understood actions of OT are uterine contraction and milk ejection, OT is also implicated in maternal and bonding behaviors, and potentially in CNS disorders such as autism, schizophrenia, and pain. The dissection of the mechanism of action of OT is complicated by the fact that this peptide activates not only its cognate receptor but also vasopressin type 1a (V1a) receptors. In this study, we evaluated OT and a selective OT receptor (OTR) agonist, FE 204409, in an automated assay that measures rat locomotor activity. The results showed: 1) Subcutaneous (sc) administration of OT decreased locomotor behavior (distance traveled, stereotypy, and rearing). This effect was reversed by a V1a receptor (V1aR) antagonist ([Pmp1,Tyr(ME)2]AVP, sc), suggesting that OT acts through peripheral V1aR to inhibit locomotor activity. 2) A selective OTR agonist (FE 204409, sc) increased stereotypy. This effect was reversed by an OTR antagonist dosed icv, suggesting a central OTR site of action. Our findings identify distinct behavioral effects for OT and the selective agonist FE 204409, adding to the growing body of evidence that the V1aR mediates many effects attributed to OT and that peptides administered systemically at supra-physiological doses may activate receptors in the brain. Our studies further emphasize the importance of utilizing selective agonists and antagonists to assess therapeutic indications. Copyright © 2018 Elsevier Ltd. All rights reserved.

  14. MASTER-Kislovodsk: new OT, ampl>6m

    NASA Astrophysics Data System (ADS)

    Vladimirov, V.; Lipunov, V.; Gorbovskoy, E.; Tiurina, N.; Kornilov, V.; Balanutsa, P.; Kuznetsov, A.; Chazov, V.; Gress, O.; Vlasenko, D.; Pogrosheva, T.; Zimnukhov, D.; Senik, V.; Kuvshinov, D.; Rebolo, R.; Serra-Ricart, M.; Gabovich, A.

    2018-05-01

    MASTER-Kislovodsk auto-detection system discovered OT source at (RA, Dec) = 03h 19m 57.28s +77d 11m 22.8s on 2018-04-29.83595 UT during Fermi trigger inspection (but this OT is not connected with GRB).

  15. Effects of overtraining on extinction in newts (Cynops pyrrhogaster).

    PubMed

    Shibasaki, Masahiro; Ishida, Masato

    2012-11-01

    The overtraining extinction effect (OEE), a phenomenon in which extended training facilitates extinction, has been found in mammals and reptiles. However, fish have never shown OEE. No study has yet investigated OEE in newts, a representative amphibian species. We tested whether newts, Cynops pyrrhogaster, show OEE in a straight-array task. All animals received five trials per day and were given a piece of dried worm during reinforced trials. They showed significant acquisition and extinction effects in reinforced and nonreinforced trials. However, we found no difference in extinction performance between a group with 25-trial acquisition and one with 75-trial acquisition, suggesting that OEE was not found in newts. OEE has generally been explained in terms of frustration-related mechanisms. Our results suggest that emotional reactions to nonreward, such as frustration, may not influence behavior in amphibians.

  16. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

    PubMed

    Gaston, V; Le Bouc, Y; Soupre, V; Burglen, L; Donadieu, J; Oro, H; Audry, G; Vazquez, M P; Gicquel, C

    2001-06-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental abnormalities, tissue and organ hyperplasia and an increased risk of embryonal tumours (most commonly Wilms tumour). This multigenic disorder is caused by dysregulation of the expression of imprinted genes in the 11p15 chromosomal region. Molecular diagnosis of BWS is currently difficult, mostly due to the large spectrum of genetic and epigenetic abnormalities. The other difficulty in managing BWS is the identification of patients at risk of tumour. An imprinted antisense transcript within KCNQ1, called KCNQ1OT (also known as LIT1), was recently shown to be normally expressed from the paternal allele. A loss of imprinting of the KCNQ1OT gene, associated with the loss of maternal allele-specific methylation of the differentially methylated region KvDMR1 has been described in BWS patients. The principal aim of this study was to evaluate the usefulness of KvDMR1 methylation analysis of leukocyte DNA for the diagnosis of BWS. The allelic status of the 11p15 region and the methylation status of the KCNQ1OT and H19 genes were investigated in leukocyte DNA from 97 patients referred for BWS and classified into two groups according to clinical data: complete BWS (CBWS) (n=61) and incomplete BWS (IBWS) (n=36). Fifty-eight (60%) patients (39/61 CBWS and 19/36 IBWS) displayed abnormal demethylation of KvDMR1. In 11 of the 56 informative cases, demethylation of KvDMR1 was related to 11p15 uniparental disomy (UPD) (nine CBWS and two IBWS). Thirteen of the 39 patients with normal methylation of KvDMR1 displayed hypermethylation of the H19 gene. These 13 patients included two siblings with 11p15 trisomy. These results show that analysis of the methylation status of KvDMR1 and the H19 gene in leukocyte DNA is useful in the diagnosis of 11p15-related overgrowth syndromes, resulting in the diagnosis of BWS in more than 70% of investigated patients. We also evaluated clinical and molecular features as

  17. OT promotes closer interpersonal distance among highly empathic individuals.

    PubMed

    Perry, Anat; Mankuta, David; Shamay-Tsoory, Simone G

    2015-01-01

    The space between people, or 'interpersonal distance', creates and defines the dynamics of social interactions and is a salient cue signaling responsiveness and feeling comfortable. This distance is implicit yet clearly felt, especially if someone stands closer or farther away than expected. Increasing evidence suggests that Oxytocin (OT) serves as a social hormone in humans, and that one of its roles may be to alter the perceptual salience of social cues. Considering that empathic ability may shape the way individuals process social stimuli, we predicted that OT will differentially affect preferred interpersonal distance depending on individual differences in empathy. Participants took part in two interpersonal distance experiments: In the first, they had to stop a (computer visualized) protagonist when feeling most comfortable; in the second, they were asked to choose the room in which they would later discuss intimate topics with another. Both experiments revealed an interaction between the effect of OT and empathy level. Among highly empathic individuals, OT promoted the choice of closer interpersonal distances. Yet, OT had an opposite effect on individuals with low empathic traits. We conclude that the enhancement of social cues following OT administration may have opposite effects on individuals with different empathic abilities. © The Author (2014). Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.

  18. Cell-free plasma DNA as a novel marker of aseptic inflammation severity related to exercise overtraining.

    PubMed

    Fatouros, Ioannis G; Destouni, Aspasia; Margonis, Konstantinos; Jamurtas, Athanasios Z; Vrettou, Christina; Kouretas, Dimitrios; Mastorakos, George; Mitrakou, Asimina; Taxildaris, Kiriakos; Kanavakis, Emmanouel; Papassotiriou, Ioannis

    2006-09-01

    Circulating free plasma DNA is implicated in conditions associated with tissue injury, including exercise-induced inflammation, and thus is a potential marker for athletic overtraining. We measured free plasma DNA along with C-reactive protein (CRP), creatine kinase (CK), and uric acid (UA) in 17 recreationally trained men participating in a 12-week resistance training regimen (8 resistance multi-joint exercises selected to stress the entire musculature: bench press, squat, leg press, snatch, hang clean, dead lifts, barbell arm curls, and rowing), consisting of 4 training periods (t1, t2, t3, and t4). Plasma DNA concentrations increased markedly after t1, t2, and t3 and returned to baseline after t4. There were substantial differences between t2 and t1 and between t3 and t2 plasma DNA concentrations. CRP increased by 300% after t2 and by 400% after t3 (there was no difference between t2 and t3 CRP values) compared with baseline (t0). CK increased only after t3. UA increased after t2 and t3, with a greater increase after t3. This study demonstrates that, after chronic excessive resistance exercise, plasma DNA concentrations increase in proportion to training load, suggesting that plasma DNA may be a sensitive marker for overtraining-induced inflammation.

  19. MASTER: high amplitude OT and OT during Fermi inspection

    NASA Astrophysics Data System (ADS)

    Balanutsa, P.; Lipunov, V.; Rebolo, R.; Serra-Ricart, M.; Podesta, R.; Levato, H.; Buckley, D.; Gorbovskoy, E.; Tiurina, N.; Shumkov, V.; Gress, O.; Pogrosheva, T.; Kuznetsov, A.; Kornilov, V.; Chazov, V.; Vlasenko, D.; Vladimirov, V.; Gorbunov, I.; Krylov, A.; Lopez, C.; Podesta, F.; Saffe, C.; Gabovich, A.

    2017-06-01

    During trigger (short GRB)/ (GRB_TIME: 17/06/04 14:28:05.09 UT, GRB_RA,Dec(2000):22h 41m 46s,+40d 40' 12", GRB_ERROR: 4.10 [deg radius, statistical only] )inspection MASTER-Kislovodsk auto-detection system detected optical transient at (RA, Dec) = 23h 01m 48.65s +41d 19m 04.2s on 2017-06-04.97120 UT. The OT unfiltered magnitude is 19.2m (limit 19.3m).

  20. 75 FR 51169 - OTS Minority Depository Institutions Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-18

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision [Docket ID: OTS-2010-0026] OTS Minority Depository Institutions Advisory Committee AGENCY: Department of the Treasury, Office of Thrift Supervision...: Deirdre A. Foley, Designated Federal Official, (202) 906-5750, Office of Thrift Supervision, 1700 G Street...

  1. Athletes: Fit but Unhealthy?

    PubMed

    Maffetone, Philip B; Laursen, Paul B

    While the words "fit" and "healthy" are often used synonymously in everyday language, the terms have entirely separate meanings. Fitness describes the ability to perform a given exercise task, and health explains a person's state of well-being, where physiological systems work in harmony. Although we typically view athletes as fit and healthy, they often are not. The global term we place on unhealthy athletes is the overtraining syndrome. In this current opinion, we propose that two primary drivers may contribute to the development of the overtraining syndrome, namely high training intensity and the modern-day highly processed, high glycemic diet. Both factors elicit a sympathetic response through the hypothalamic-pituitary-adrenal axis, in turn driving systemic reactive oxygen species production, inflammation, and a metabolic substrate imbalance towards carbohydrate and away from fat oxidation, manifesting in an array of symptoms often labeled as the overtraining syndrome. Ultimately, these symptoms reveal an unhealthy athlete. We argue that practitioners, scientists, and athletes may work towards health and alleviate overtraining syndrome by lowering training intensity and removing processed and/or high glycemic foods from the diet, which together enhance fat oxidation rates. Athletes should be fit and healthy.

  2. 12 CFR 510.5 - Release of unpublished OTS information.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 12 Banks and Banking 6 2012-01-01 2012-01-01 false Release of unpublished OTS information. 510.5 Section 510.5 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY MISCELLANEOUS ORGANIZATIONAL REGULATIONS § 510.5 Release of unpublished OTS information. (a) Scope. (1) This section applies to...

  3. 12 CFR 555.310 - How do I notify OTS?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false How do I notify OTS? 555.310 Section 555.310 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY ELECTRONIC OPERATIONS Requirements Applicable to All Savings Associations § 555.310 How do I notify OTS? (a) Notice requirement. You...

  4. MASTER: OT detection during Fermi trigger inspection

    NASA Astrophysics Data System (ADS)

    Popova, E.; Lipunov, V.; Buckley, D.; Gorbovskoy, E.; Tiurina, N.; Balanutsa, P.; Kuznetsov, A.; Kornilov, V.; Chazov, V.; Vlasenko, D.; Vladimirov, V.; Gress, O.; Ivanov, K.; Potter, S.; Gabovich, A.

    2016-11-01

    During inspection of Fermi trigger 501261070 ( (Ra,Dec)=47.190,-47.210; GRB_ERROR_radius=3.27deg, GRB_TIME=2016/11/19 15:11:06.40UT http://gcn.gsfc.nasa.gov/other/501261070.fermi ) MASTER-SAAO auto-detection system ( Lipunov et al., "MASTER Global Robotic Net", Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 03h 22m 52.70s -48d 29m 10.9s on 2016-11-19 21:17:17.878UT with unfiltered m_OT=17.8 (mlim=19.7).

  5. Probable Opitz trigonocephaly C syndrome with medulloblastoma

    SciTech Connect

    Omran, H.; Hildebrandt, F.; Brandis, M.

    1997-04-14

    We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in themore » future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.« less

  6. The potential for oxytocin (OT) to prevent breast cancer: a hypothesis.

    PubMed

    Murrell, T G

    1995-08-01

    This hypothesis proposes that carcinogens in the breast are generated by the action of superoxide free radicals released when acinal gland distension, under the influence of unopposed prolactin, causes microvessel ischaemia. Inadequate nipple care in the at-risk years leads to ductal obstruction preventing the elimination of carcinogens from the breast. The regular production of oxytocin (OT) from nipple stimulation would cause contraction of the myoepithelial cells, relieving acinal gland distension and aiding the active elimination of carcinogenic fluid from the breast. Mechanical breast pump stimulation causes an increase in plasma OT levels in the luteal but not in the follicular phase of the menstrual cycle. OT production upon nipple stimulation in the luteal phase of premenopausal, non-lactating women may be protective against the high rates of mitotic breast cell division noted at this time via the potential to block the effect of oestrogen. The epidemiology of breast cancer suggests that lengthy lactation time is beneficial. Sexual activity in nulliparous women also protects and OT levels have been shown to rise with orgasm in women and in men. OT systems in the brain are intricately linked to oestrogen and progesterone levels, and it is possible that these hormones may modify the OT secretory response both centrally and through an effect on the sensitivity of the breast. OT production with nipple care and in sex and lactation, and the reduction in cycling ovarian hormones that occurs with pregnancy, may all be important preventative factors in the development of breast cancer both pre- and post-menopausally.

  7. 12 CFR 563b.115 - How will OTS review my business plan?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false How will OTS review my business plan? 563b.115... business plan? (a) OTS will review your business plan to determine that it demonstrates a safe and sound... will be determinative. OTS will review every case on its merits. (b) You must file your business plan...

  8. A Scoping Review of the Tensions in OT-Teacher Collaborations

    ERIC Educational Resources Information Center

    Wintle, James; Krupa, Terry; Cramm, Heidi; DeLuca, Christopher

    2017-01-01

    Teachers must meet the educational needs of diverse students. Occupational therapists (OTs) assist some of these students through the provision of school-based occupational therapy (SBOT). However, there can be challenges to collaboration between OTs and teachers, and this can engender difficulty in achieving desired results. This scoping review…

  9. A new assessment method of outdoor tobacco smoke (OTS) exposure

    NASA Astrophysics Data System (ADS)

    Cho, Hyeri; Lee, Kiyoung

    2014-04-01

    Outdoor tobacco smoke (OTS) is concerned due to potential health effects. An assessment method of OTS exposure is needed to determine effects of OTS and validate outdoor smoking policies. The objective of this study was to develop a new method to assess OTS exposure. This study was conducted at 100 bus stops including 50 centerline bus stops and 50 roadside bus stops in Seoul, Korea. Using real-time aerosol monitor, PM2.5 was measured for 30 min at each bus stop in two seasons. ‘Peak analysis' method was developed to assess short term PM2.5 exposure by OTS. The 30-min average PM2.5 exposure at each bus stop was associated with season and bus stop location but not smoking activity. The PM2.5 peak occurrence rate by the peak analysis method was significantly associated with season, bus stop location, observed smoking occurrence, and the number of buses servicing a route. The PM2.5 peak concentration was significantly associated with season, smoking occurrence, and the number of buses servicing a route. When a smoker was standing still at the bus stop, magnitude of peak concentrations were significantly higher than when the smoker walking-through the bus stop. People were exposed to high short-term PM2.5 peak levels at bus stops, and the magnitude of peak concentrations were highest when a smoker was located close to the monitor. The magnitude of peak concentration was a good indicator helped distinguish nearby OTS exposure. Further research using ‘peak analysis' is needed to measure smoking-related exposure to PM2.5 in other outdoor locations.

  10. 12 CFR 500.10 - The OTS or The Office.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false The OTS or The Office. 500.10 Section 500.10 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY AGENCY ORGANIZATION AND FUNCTIONS General Organization § 500.10 The OTS or The Office. The Office of Thrift Supervision (referred to as “OTS” or “Office”) is an office of the...

  11. 12 CFR 563b.675 - What conditions will OTS impose on an approval?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false What conditions will OTS impose on an approval... Supervisory Conversion Application § 563b.675 What conditions will OTS impose on an approval? (a) OTS will... conditions and restrictions on you (before and after the conversion), your acquiror, controlling parties, or...

  12. Teaching the Moving Child: OT Insights That Will Transform Your K-3 Classroom

    ERIC Educational Resources Information Center

    Berkey, Sybil M.

    2009-01-01

    Because sensorimotor and environmental factors have a profound effect on children's learning, every teacher should know how to weave strategies from occupational therapy (OT) into their everyday instruction. This is the guidebook K-3 teachers need to "think like an OT"--and form effective partnerships with OTs in their schools--so all students can…

  13. 12 CFR 550.80 - How do I obtain OTS approval?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false How do I obtain OTS approval? 550.80 Section 550.80 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Obtaining Fiduciary Powers § 550.80 How do I obtain OTS approval? You must file an...

  14. 12 CFR 550.80 - How do I obtain OTS approval?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false How do I obtain OTS approval? 550.80 Section 550.80 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Obtaining Fiduciary Powers § 550.80 How do I obtain OTS approval? You must file an...

  15. MASTER Net: OT in M31 direction and new CV

    NASA Astrophysics Data System (ADS)

    Shumkov, V.; Pogrosheva, T.; Lipunov, V.; Lopez, R. Rebolo; Serra-Ricart, M.; Buckley, D.; Gorbovskoy, E.; Tiurina, N.; Balanutsa, P.; Kuznetsov, A.; Kornilov, V.; Gress, O.; Zimnukhov, D.; Vladimirov, V.; Vlasenko, D.; Kuvshinov, D.

    2018-01-01

    MASTER-SAAO auto-detection system ( Lipunov et al., "MASTER Global Robotic Net", Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 03h 00m 57.16s -66d 25m 23.1s on 2018-01-11.89176 UT. The OT unfiltered magnitude is 19.2m (mlim=20.1).

  16. 12 CFR 516.10 - How does OTS compute time periods under this part?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... APPLICATION PROCESSING PROCEDURES § 516.10 How does OTS compute time periods under this part? In computing time periods under this part, OTS does not include the day of the act or event that commences the time... 12 Banks and Banking 5 2010-01-01 2010-01-01 false How does OTS compute time periods under this...

  17. Superhump Period of MASTER OT

    NASA Astrophysics Data System (ADS)

    Garnavich, Peter; McClelland, Colin

    2013-02-01

    We observed the optical transient MASTER OT J065608.28+744455.2 (ATEL #4783) with the Vatican Advanced Technology Telescope (VATT) and VATT4K CCD camera. V-band imaging began at 2013 Feb. 5.15 (UT) and continued for 3.3 hours with a time resolution of 22 seconds.

  18. A global outer-rise/outer-trench-slope (OR/OTS) earthquake study

    NASA Astrophysics Data System (ADS)

    Wartman, J. M.; Kita, S.; Kirby, S. H.; Choy, G. L.

    2009-12-01

    Using improved seismic, bathymetric, satellite gravity and other geophysical data, we investigated the seismicity patterns and focal mechanisms of earthquakes in oceanic lithosphere off the trenches of the world that are large enough to be well recorded at teleseismic distances. A number of prominent trends are apparent, some of which have been previously recognized based on more limited data [1], and some of which are largely new [2-5]: (1) The largest events and the highest seismicity rates tend to occur where Mesozoic incoming plates are subducting at high rates (e.g., those in the western Pacific and the Banda segment of Indonesia). The largest events are predominantly shallow normal faulting (SNF) earthquakes. Less common are reverse-faulting (RF) events that tend to be deeper and to be present along with SNF events where nearby seamounts, seamount chains and other volcanic features are subducting [Seno and Yamanaka, 1996]. Blooms of SNF OR/OTS events usually occur just after and seaward of great interplate thrust (IPT) earthquakes but are far less common after smaller IPT events. (2) Plates subducting at slow rates (<20 mm/a) often show sparse OR/OTS seismicity. It is unclear if such low activity is a long-term feature of these systems or is a consequence of the long return times of great IPT earthquakes (e.g., the sparse OR/OTS seismicity before the 26 December 2004 M9.2 Sumatra earthquake and many subsequent OR/OTS events). (3) OR/OTS shocks are generally sparse or absent where incoming plates are very young (<20 Ma) (e.g., Cascadia, southern Mexico, Nankai, and South Shetlands). (4) Subducting plates of intermediate age (20 to about 65 Ma) display a diversity of focal mechanisms and seismicity patterns. In the Philippines, NE Indonesia, and Melanesia, bands of reverse faulting events occur at or near the trench and SNF earthquakes are restricted to OR/OTS sites further from the trench. (5) Clustering of OR/OTS events of all types commonly occurs where

  19. OT calibration and service maintenance manual.

    DOT National Transportation Integrated Search

    2012-01-01

    The machine conditions, as well as the values at the calibration and control parameters, may determine the quality of each test results obtained. In order to keep consistency and accuracy, the conditions, performance and measurements of an OT must be...

  20. 75 FR 181 - Application for Conversion From: (a) OTS-Regulated, State-Chartered Savings Association to...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-04

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision Application for Conversion From: (a) OTS...: Application for Conversion from: (1) OTS- Regulated, State-Chartered Savings Association to Federal Saving... whether it meets applicable eligibility requirements for conversion and complies with applicable OTS...

  1. First report on the occurrence of Theileria sp. OT3 in China.

    PubMed

    Tian, Zhancheng; Liu, Guangyuan; Yin, Hong; Xie, Junren; Wang, Suyan; Yuan, Xiaosong; Wang, Fangfang; Luo, Jin

    2014-04-01

    Theileria sp. OT3 was firstly detected and identified from clinically healthy sheep in Xinjiang Uygur Autonomous Region of China (XUAR) through comparing the complete 18S rDNA gene sequences available in GenBank database and the phylogenetic status based on the internal transcribed spacers (ITS1, ITS2) as well as the intervening 5.8S coding region of the rRNA gene by the methods of a partitioned multi-locus analysis in BEAST and Maximum likelihood analysis in PhyML. Moreover, the findings were confirmed by the species-specific PCR for Theileria sp. OT3 and the prevalence of Theileria sp. OT3 was 14.9% in the north of XUAR. This study is the first report on the occurrence of Theileria sp. OT3 in China. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  2. 12 CFR 563.146 - Will the OTS permit my capital distribution?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... under 12 U.S.C. 1831o(d)(1)(B). (b) Your proposed capital distribution raises safety or soundness... 12 Banks and Banking 5 2010-01-01 2010-01-01 false Will the OTS permit my capital distribution... SAVINGS ASSOCIATIONS-OPERATIONS Capital Distributions § 563.146 Will the OTS permit my capital...

  3. 12 CFR 502.55 - Where can I find OTS's fee schedule?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false Where can I find OTS's fee schedule? 502.55 Section 502.55 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY ASSESSMENTS AND... fees in a Thrift Bulletin. OTS will publish these fees at least 30 days before they are effective. ...

  4. Other Transaction (OT) Authority

    DTIC Science & Technology

    2008-11-25

    definition may be found in a Public Contract Law Journal article: “For purposes of this article, when the term ‘commercial’ is used, it encompasses all...the Bayh-Dole Act: Keeping the Federal Government on the Cutting Edge,” Public Contract Law Journal, vol. 30, no. 2 (winter 2001), p. 226.) The...Government? Should They Be?” Public Contract Law Journal, vol. 33, no. 1 (fall 2003), p. 26. The benefit of OT authority is that it “... allows

  5. Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome.

    PubMed

    Hall, Scott S; Lightbody, Amy A; McCarthy, Brigid E; Parker, Karen J; Reiss, Allan L

    2012-04-01

    Fragile X syndrome (FXS) is a rare inherited genetic disorder causing severe intellectual disability and autistic-like symptoms. Individuals with FXS, males in particular, often exhibit extreme eye gaze avoidance and hyperarousal when they encounter stressful social situations. We investigated whether oxytocin (OT), a hormone with prosocial and anxiolytic effects, could alleviate symptoms of social anxiety in this population. A randomized double-blind placebo-controlled single-dose trial was performed with intranasal administration of placebo, 24 IU OT and 48 IU OT. Measures of eye gaze frequency, heart rate, respiratory sinus arrhythmia (RSA), heart rate variability (HRV) and salivary cortisol were obtained during a structured social challenge conducted 50 min following OT administration. Ten low-functioning males with FXS (aged 13-28 years) traveled to Stanford for the initial visit: 8 completed the study. Eye gaze frequency improved significantly in response to the 24 IU OT dose and salivary cortisol levels decreased significantly in response to the 48 IU OT dose. There was no effect of OT on heart rate, RSA or HRV although individual plots of the heart rate data suggested that OT increased heart rate in some participants and decreased heart rate in others. These findings suggest that intranasal administration of OT may ameliorate some symptoms of social anxiety in patients with FXS. Further double-blind placebo-controlled studies of OT, conducted in combination with behavioral treatment programs, may be warranted. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Optimization of OT-MACH Filter Generation for Target Recognition

    NASA Technical Reports Server (NTRS)

    Johnson, Oliver C.; Edens, Weston; Lu, Thomas T.; Chao, Tien-Hsin

    2009-01-01

    An automatic Optimum Trade-off Maximum Average Correlation Height (OT-MACH) filter generator for use in a gray-scale optical correlator (GOC) has been developed for improved target detection at JPL. While the OT-MACH filter has been shown to be an optimal filter for target detection, actually solving for the optimum is too computationally intensive for multiple targets. Instead, an adaptive step gradient descent method was tested to iteratively optimize the three OT-MACH parameters, alpha, beta, and gamma. The feedback for the gradient descent method was a composite of the performance measures, correlation peak height and peak to side lobe ratio. The automated method generated and tested multiple filters in order to approach the optimal filter quicker and more reliably than the current manual method. Initial usage and testing has shown preliminary success at finding an approximation of the optimal filter, in terms of alpha, beta, gamma values. This corresponded to a substantial improvement in detection performance where the true positive rate increased for the same average false positives per image.

  7. 12 CFR 555.300 - Must I inform OTS before I use electronic means or facilities?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false Must I inform OTS before I use electronic means... I inform OTS before I use electronic means or facilities? (a) General. A savings association (“you”) are not required to inform OTS before you use electronic means or facilities, except as provided in...

  8. An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism.

    PubMed

    Meziane, Hamid; Schaller, Fabienne; Bauer, Sylvian; Villard, Claude; Matarazzo, Valery; Riet, Fabrice; Guillon, Gilles; Lafitte, Daniel; Desarmenien, Michel G; Tauber, Maithé; Muscatelli, Françoise

    2015-07-15

    Mutations of MAGEL2 have been reported in patients presenting with autism, and loss of MAGEL2 is also associated with Prader-Willi syndrome, a neurodevelopmental genetic disorder. This study aimed to determine the behavioral phenotype of Magel2-deficient adult mice, to characterize the central oxytocin (OT) system of these mutant mice, and to test the curative effect of a peripheral OT treatment just after birth. We assessed the social and cognitive behavior of Magel2-deficient mice, analyzed the OT system of mutant mice treated or not by a postnatal administration of OT, and determined the effect of this treatment on the brain. Magel2 inactivation induces a deficit in social recognition and social interaction and a reduced learning ability in adult male mice. In these mice, we reveal anatomical and functional modifications of the OT system and show that these defects change from birth to adulthood. Daily administration of OT in the first postnatal week was sufficient to prevent deficits in social behavior and learning abilities in adult mutant male mice. We show that this OT treatment partly restores a normal OT system. Thus, we report that an alteration of the OT system around birth has long-term consequences on behavior and on cognition. Importantly, an acute OT treatment of Magel2-deficient pups has a curative effect. Our study reveals that OT plays a crucial role in setting social behaviors during a period just after birth. An early OT treatment in this critical period could be a novel therapeutic approach for the treatment of neurodevelopmental disorders such as Prader-Willi syndrome and autism. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  9. VHF Direction Finder (VDF) Operational Test and Evaluation (OT&E) integration and OT&E Operational Test Logs and Data

    DTIC Science & Technology

    1994-05-01

    4. 2 + 30 1 120 K1. Dl f o’fZ. 5 $ Time 143 q Data___________ Plot.,- s A "’ke-., v CO Pi.ot -----.-.. n•_ ze g .,nL,.,khav ,.-VW ý61I;, 9- 0 ; $ 4...Saemario 0 5 . Two Airaraft. apraimately 45 minutes. D1Fre ; 12T. Z.-t._--__ Aircraft a1 iiuot-Mg A~uomy-ss 3nq1?O" lLock~v*otf time 2 13 9a Aircraft 02...1 a b ul a z %# U,’t YIV M" us~N b Ct u U, ý at nOt P SI am N% EA . 0 40 on N n -q P"I n n I - 44~~K 5 ~ - - N N mul 3 UA ’YM ly! oni - 4 b eq a

  10. Effects of Hypergravity Exposure on Plasma Oxytocin (OT) Concentrations in Pregnant and Lactating Rat Dams

    NASA Technical Reports Server (NTRS)

    Baer, Lisa A.; Wade, Charles E.; Plaut, Karen; Ronca, April E.; Dalton, Bonnie (Technical Monitor)

    2002-01-01

    From pregnancy to weaning there is a progressive elevation of plasma oxytocin (OT) levels associated with nursing activity, irrespective of litter size. In the present study, we analyzed the effects of continuous 1.5G, 1.75G and 2.0G hypergravity exposure on OT plasma concentration in prepartum (Gestation Day 20) (G20) and lactating (Postnatal day) (P10) rat dams. For this study, litter size was controlled with a yoking procedure established in our lab where individual control litters were yoked-matched to individual hypergravity litters. We reviewed all data at hypergravity irrespective of gravitational level and compared the values with the controls in both G20 (HG, n=15;SC, n=9) and P10 (HG, n=21;SC, n=16). Results showed that over time, we did observe the expected OT increase in both groups. In G20 dams, measurement of OT concentrations showed no significance. However, at P10, measurements of OT concentrations suggest a reduction of about 20% compared to established controls in our laboratory, 0.9+/-0.09 ng/ml for the controls and 0.7+/-0.06 ng/ml for centrifuged animals (p<0.02). These data suggest that exposure to centrifugation may reduce OT levels during lactation. When these plasma samples were obtained, the dams were removed from the litters, and values were not adjusted for the size of the litters. The reduction in OT with centrifugation may reflect a decrease in nursing activity or a decreased responsiveness of the mammary hypothalamic axis. In addition, we have analyzed data on plasma prolactin concentrations and mammary gland development, which may give additional insight to the results of our OT measurements.

  11. 75 FR 61572 - Open Meeting of the OTS Mutual Savings Association Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-05

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision [Docket ID OTS-2010-0030] Open Meeting of... Thrift Supervision. ACTION: Notice of meeting. SUMMARY: The OTS Mutual Savings Associations Advisory....treas.gov ; or Mail: to Charlotte Bahin, Designated Federal Official, Office of Thrift Supervision, 1700...

  12. 75 FR 76524 - Closed Meeting of the OTS Mutual Savings Association Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-08

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision [Docket ID: OTS-2010-0034] Closed Meeting of the OTS Mutual Savings Association Advisory Committee AGENCY: Office of Thrift Supervision... Supervision, 1700 G Street, NW., Washington, DC 20552. The public is invited to submit written statements to...

  13. 75 FR 63895 - Open Meeting of the OTS Minority Depository Institutions Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-18

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision [Docket ID: OTS-2010-0028] Open Meeting of... of Thrift Supervision. ACTION: Notice of meeting. SUMMARY: The OTS Minority Depository Institutions... the Office of Thrift Supervision, 1700 G Street, NW., Washington, DC, beginning at 9 a.m. Eastern Time...

  14. 75 FR 38188 - Closed Meeting of the OTS Mutual Savings Association Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-01

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision [Docket ID OTS-2010-0021] Closed Meeting... of Thrift Supervision. ACTION: Notice of Closed Meeting. SUMMARY: The OTS Mutual Savings Associations... Supervision, 1700 G Street, NW., Washington, DC 20552. The public is invited to submit written statements to...

  15. 76 FR 7630 - Open Meeting of the OTS Minority Depository Institutions Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-10

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision [Docket ID: OTS-2011-0003] Open Meeting of... of Thrift Supervision. ACTION: Notice of meeting. SUMMARY: The OTS Minority Depository Institutions... Office of Thrift Supervision, 1700 G Street, NW., Washington, DC, beginning at 9 a.m. [[Page 7631...

  16. 12 CFR 550.120 - What action will the OTS take on my application?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false What action will the OTS take on my application? 550.120 Section 550.120 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Obtaining Fiduciary Powers § 550.120 What action will the OTS take...

  17. 12 CFR 550.120 - What action will the OTS take on my application?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false What action will the OTS take on my application? 550.120 Section 550.120 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Obtaining Fiduciary Powers § 550.120 What action will the OTS take...

  18. 12 CFR 516.170 - When will OTS conduct a meeting on an application?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... application, or otherwise determines that a meeting will benefit the decision-making process. OTS may limit... inform the applicant and all commenters requesting a meeting of its decision to grant or deny a meeting request, or of its decision to conduct a meeting on its own initiative. (c) If OTS decides to conduct a...

  19. On the light-curve of OT/GRB970508

    NASA Astrophysics Data System (ADS)

    Pedersen, H.; Jaunsen, A. O.; Østensen, R.; Grav, T.; Wold, M.; Lacy, M.; Kristen, H.; Broeils, A.; Castro-Tirado, A. J.; Gorosabel, J.; Rodriguez Espinosa, J. M.; Perez, A. M.; Näslund, M.; Fransson, C.; Andersen, M. I.; Wolf, C.; Fockenbrock, R.; Piro, L.; Feroci, M.; Costa, E.; Nicastro, L.; Palazzi, E.; Frontera, F.; Monaldi, L.; Heise, J.; Hjorth, J.

    1998-05-01

    Using the Nordic Optical Telescope, La Palma, Spain, optical studies of OT/GRB970508 were initiated 3 hours 5 minutes after the high energy event (This appears to be sooner than achieved elsewhere, for any optical transient). The OT was clearly detected in the earliest images. The last observation was done August 13-15, i.e. 95-97 days after the event. We have combined the NOT R and unfiltered data with similar photometry from elsewhere. We conclude that the observed source brightness cannot easily be modeled by theories predicting a monotonic rise to maximum. Also the post-maximum power-law decay, albeit predicted by several models, is no longer valid at the moment of our last observation. The contribution of a constant source, mR=25.5 is indicated, but this does not show up in the image profile.

  20. Use of thermal cycling to reduce adhesion of OTS coated coated MEMS cantilevers

    NASA Astrophysics Data System (ADS)

    Ali, Shaikh M.; Phinney, Leslie M.

    2003-01-01

    °Microelectromechanical systems (MEMS) have enormous potential to contribute in diverse fields such as automotive, health care, aerospace, consumer products, and biotechnology, but successful commercial applications of MEMS are still small in number. Reliability of MEMS is a major impediment to the commercialization of laboratory prototypes. Due to the multitude of MEMS applications and the numerous processing and packaging steps, MEMS are exposed to a variety of environmental conditions, making the prediction of operational reliability difficult. In this paper, we investigate the effects of operating temperature on the in-use adhesive failure of electrostatically actuated MEMS microcantilevers coated with octadecyltrichlorosilane (OTS) films. The cantilevers are subjected to repeated temperature cycles and electrostatically actuated at temperatures between 25°C and 300°C in ambient air. The experimental results indicate that temperature cycling of the OTS coated cantilevers in air reduces the sticking probability of the microcantilevers. The sticking probability of OTS coated cantilevers was highest during heating, which decreased during cooling, and was lowest during reheating. Modifications to the OTS release method to increase its yield are also discussed.

  1. "Merging Yoga and Occupational Therapy (MY-OT): A feasibility and pilot study".

    PubMed

    Schmid, Arlene A; Puymbroeck, Marieke Van; Portz, Jennifer D; Atler, Karen E; Fruhauf, Christine A

    2016-10-01

    To examine the feasibility and benefits of the Merging Yoga and Occupational Therapy (MY-OT) intervention. This is the primary analysis of a non-controlled pretest-posttest pilot study to understand the feasibility and impact of MY-OT on balance, balance self-efficacy, and fall risk factor management in people with chronic stroke. University research laboratory. People with chronic stroke were included in the study if they: had sustained a fall or had fear of falling, were able to stand, and hand impaired balance and were at risk for falls (≤46 on the Berg Balance Scale (BBS)). Individuals completed an 8 week intervention that included 16 sessions of both yoga and group occupational therapy (OT). Yoga included physical postures, breathing exercises, and meditation. OT focused on post-stroke fall risk factor management. The BBS was used to assess balance, the Activities-specific Balance Confidence Scale (ABC) was used to measure balance self-efficacy. Five fall risk factor management scales were used. Overall, the intervention was considered feasible, as individuals were able to safely complete the intervention with little attrition and high attendance. Balance improved by 30% (p=0.002). Balance self-efficacy improved by 15% (p=0.034). Each of the five fall risk factor management scales improved, but only two significantly improved (Fall Prevention and Management Questionnaire, 29%, p=0.004 and Fall Prevention Strategy Survey, 42%, p=0.032). The results demonstrate that MY-OT is a potential intervention to improve multiple fall related outcomes for people with stroke. Therapists may consider these interventions for people with stroke, but additional research is warranted. Copyright © 2016 Elsevier Ltd. All rights reserved.

  2. Trehalose-6-Phosphate-Mediated Toxicity Determines Essentiality of OtsB2 in Mycobacterium tuberculosis In Vitro and in Mice.

    PubMed

    Korte, Jan; Alber, Marina; Trujillo, Carolina M; Syson, Karl; Koliwer-Brandl, Hendrik; Deenen, René; Köhrer, Karl; DeJesus, Michael A; Hartman, Travis; Jacobs, William R; Bornemann, Stephen; Ioerger, Thomas R; Ehrt, Sabine; Kalscheuer, Rainer

    2016-12-01

    Trehalose biosynthesis is considered an attractive target for the development of antimicrobials against fungal, helminthic and bacterial pathogens including Mycobacterium tuberculosis. The most common biosynthetic route involves trehalose-6-phosphate (T6P) synthase OtsA and T6P phosphatase OtsB that generate trehalose from ADP/UDP-glucose and glucose-6-phosphate. In order to assess the drug target potential of T6P phosphatase, we generated a conditional mutant of M. tuberculosis allowing the regulated gene silencing of the T6P phosphatase gene otsB2. We found that otsB2 is essential for growth of M. tuberculosis in vitro as well as for the acute infection phase in mice following aerosol infection. By contrast, otsB2 is not essential for the chronic infection phase in mice, highlighting the substantial remodelling of trehalose metabolism during infection by M. tuberculosis. Blocking OtsB2 resulted in the accumulation of its substrate T6P, which appears to be toxic, leading to the self-poisoning of cells. Accordingly, blocking T6P production in a ΔotsA mutant abrogated otsB2 essentiality. T6P accumulation elicited a global upregulation of more than 800 genes, which might result from an increase in RNA stability implied by the enhanced neutralization of toxins exhibiting ribonuclease activity. Surprisingly, overlap with the stress response caused by the accumulation of another toxic sugar phosphate molecule, maltose-1-phosphate, was minimal. A genome-wide screen for synthetic lethal interactions with otsA identified numerous genes, revealing additional potential drug targets synergistic with OtsB2 suitable for combination therapies that would minimize the emergence of resistance to OtsB2 inhibitors.

  3. Trehalose-6-Phosphate-Mediated Toxicity Determines Essentiality of OtsB2 in Mycobacterium tuberculosis In Vitro and in Mice

    PubMed Central

    Koliwer-Brandl, Hendrik; Hartman, Travis; Jacobs, William R.; Ioerger, Thomas R.; Ehrt, Sabine

    2016-01-01

    Trehalose biosynthesis is considered an attractive target for the development of antimicrobials against fungal, helminthic and bacterial pathogens including Mycobacterium tuberculosis. The most common biosynthetic route involves trehalose-6-phosphate (T6P) synthase OtsA and T6P phosphatase OtsB that generate trehalose from ADP/UDP-glucose and glucose-6-phosphate. In order to assess the drug target potential of T6P phosphatase, we generated a conditional mutant of M. tuberculosis allowing the regulated gene silencing of the T6P phosphatase gene otsB2. We found that otsB2 is essential for growth of M. tuberculosis in vitro as well as for the acute infection phase in mice following aerosol infection. By contrast, otsB2 is not essential for the chronic infection phase in mice, highlighting the substantial remodelling of trehalose metabolism during infection by M. tuberculosis. Blocking OtsB2 resulted in the accumulation of its substrate T6P, which appears to be toxic, leading to the self-poisoning of cells. Accordingly, blocking T6P production in a ΔotsA mutant abrogated otsB2 essentiality. T6P accumulation elicited a global upregulation of more than 800 genes, which might result from an increase in RNA stability implied by the enhanced neutralization of toxins exhibiting ribonuclease activity. Surprisingly, overlap with the stress response caused by the accumulation of another toxic sugar phosphate molecule, maltose-1-phosphate, was minimal. A genome-wide screen for synthetic lethal interactions with otsA identified numerous genes, revealing additional potential drug targets synergistic with OtsB2 suitable for combination therapies that would minimize the emergence of resistance to OtsB2 inhibitors. PMID:27936238

  4. Oxytocin (OT) and arginine-vasopressin (AVP) act on OT receptors and not AVP V1a receptors to enhance social recognition in adult Syrian hamsters (Mesocricetus auratus).

    PubMed

    Song, Zhimin; Larkin, Tony E; Malley, Maureen O'; Albers, H Elliott

    2016-05-01

    Social recognition is a fundamental requirement for all forms of social relationships. A majority of studies investigating the neural mechanisms underlying social recognition in rodents have investigated relatively neutral social stimuli such as juveniles or ovariectomized females over short time intervals (e.g., 2h). The present study developed a new testing model to study social recognition among adult males using a potent social stimulus. Flank gland odors are used extensively in social communication in Syrian hamsters and convey important information such as dominance status. We found that the recognition of flank gland odors after a 3min exposure lasted for at least 24h, substantially longer than the recognition of other social cues in rats and mice. Intracerebroventricular injections of OT and AVP prolonged the recognition of flank gland odor for up to 48h. Selective OTR but not V1aR agonists, mimicked these enhancing effects of OT and AVP. Similarly, selective OTR but not V1aR antagonists blocked recognition of the odors after 20min. In contrast, the recognition of non-social stimuli was not blocked by either the OTR or the V1aR antagonists. Our findings suggest both OT and AVP enhance social recognition via acting on OTRs and not V1aRs and that the recognition enhancing effects of OT and AVP are limited to social stimuli. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. 75 FR 10560 - Application for Conversion From: (a) OTS-Regulated, State-Chartered Savings Association to...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-08

    ... DEPARTMENT OF THE TREASURY Office of Thrift Supervision Application for Conversion From: (a) OTS... Proposal: Application for Conversion from: (1) OTS- Regulated, State-Chartered Savings Association to... reviewed to determine whether it meets applicable eligibility requirements for conversion and complies with...

  6. Recent optical activity of the blazar OT 355

    NASA Astrophysics Data System (ADS)

    Bachev, R.; Kurtenkov, A.; Nikolov, Y.; Spassov, B.; Boeva, S.; Latev, G.; Dimitrova, R. V. Munoz

    2017-06-01

    The Flat Spectrum Radio Quasar OT 355 (also known as 7C 173240.70+385949.00, z=0.975) was typically observed to be in the optical between 16th and 21th magnitude (CRTS, http://nesssi.cacr.caltech.edu/catalina/20011332/113321380764100137p.html).

  7. Software OT&E Guidelines. Volume 3. Software Maintainability Evaluator’s Handbook

    DTIC Science & Technology

    1980-04-01

    SOFTWARE OT&E " 1 GUIDELINES . VOLUME III SOFTWARE MAINTAINABILITY EVALUATOR’S HANDBOOK APRIL 1980 AIR FORCE TEST AND EVALUATION CENTER KIRTLAND AIR...FORCE BASE NEW MEXICO 87117 C-, -j AfTECP 800-3 AF’r...........3 ...... UNCLASSIFIED SECURITY CLASSIFICATION OF THIS PAGE (When D.. Entered) RE:PORT...c -. 5 TY!aJ0. PERIOD COVERED SOFTWARE OT& . GUIDELINES, Volume III .of five). -1 softare-R.aintainability Evaluator’s P-IEFnook’ 4ina. i 1980

  8. 12 CFR 510.5 - Release of unpublished OTS information.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... their official capacities. Examples of unpublished information include: (i) Information in the memory of... must be sent to the OTS at 1700 G Street NW., Washington, DC 20552, to the attention of the Corporate...

  9. 12 CFR 550.70 - Must I obtain OTS approval or file a notice before I exercise fiduciary powers?

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... before I exercise fiduciary powers? 550.70 Section 550.70 Banks and Banking OFFICE OF THRIFT SUPERVISION... I obtain OTS approval or file a notice before I exercise fiduciary powers? You should refer to the following chart to determine if you must obtain OTS approval or file a notice with OTS before you exercise...

  10. 12 CFR 550.70 - Must I obtain OTS approval or file a notice before I exercise fiduciary powers?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... before I exercise fiduciary powers? 550.70 Section 550.70 Banks and Banking OFFICE OF THRIFT SUPERVISION... I obtain OTS approval or file a notice before I exercise fiduciary powers? You should refer to the following chart to determine if you must obtain OTS approval or file a notice with OTS before you exercise...

  11. 12 CFR 550.70 - Must I obtain OTS approval or file a notice before I exercise fiduciary powers?

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... before I exercise fiduciary powers? 550.70 Section 550.70 Banks and Banking OFFICE OF THRIFT SUPERVISION... I obtain OTS approval or file a notice before I exercise fiduciary powers? You should refer to the following chart to determine if you must obtain OTS approval or file a notice with OTS before you exercise...

  12. 12 CFR 550.70 - Must I obtain OTS approval or file a notice before I exercise fiduciary powers?

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... before I exercise fiduciary powers? 550.70 Section 550.70 Banks and Banking OFFICE OF THRIFT SUPERVISION... I obtain OTS approval or file a notice before I exercise fiduciary powers? You should refer to the following chart to determine if you must obtain OTS approval or file a notice with OTS before you exercise...

  13. 12 CFR 550.70 - Must I obtain OTS approval or file a notice before I exercise fiduciary powers?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... before I exercise fiduciary powers? 550.70 Section 550.70 Banks and Banking OFFICE OF THRIFT SUPERVISION... I obtain OTS approval or file a notice before I exercise fiduciary powers? You should refer to the following chart to determine if you must obtain OTS approval or file a notice with OTS before you exercise...

  14. 12 CFR 516.250 - Will OTS require me to publish a new public notice?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false Will OTS require me to publish a new public... publish a new public notice? (a) If your application was subject to a publication requirement, OTS may require you to publish a new public notice of your application if: (1) You submitted a revision to the...

  15. 12 CFR 502.60 - When will OTS adjust, add, waive, or eliminate a fee?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false When will OTS adjust, add, waive, or eliminate a fee? 502.60 Section 502.60 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY ASSESSMENTS AND FEES Fees § 502.60 When will OTS adjust, add, waive, or eliminate a fee? Under...

  16. Disruptive Ideas for IT/OT Security in Energy Systems

    SciTech Connect

    Martin, Maurice

    Presentation on disruptive ideas for IT and OT cybersecurity in energy systems, presented by Power Systems Engineering Center Researcher Maurice Martin. This presentation was prepared for the Florida Institute for Cybersecurity Research Conference on March 1, 2018.

  17. Time comparison via OTS-2

    NASA Technical Reports Server (NTRS)

    Dejong, G.; Kaarls, R.; Kirchner, D.; Ressler, H.

    1982-01-01

    The time comparisons carried out via OTS-2 between the Technical University Graz (Austria) and the Van Swinden Laboratory Delft (Netherlands) are discussed. The method is based on the use of the synchronization pulse in the TV-frame of the daily evening broadcasting of a French TV-program to Northern Africa. Corrections, as a consequence of changes in the position of the satellite coordinates are applied weekly after reception of satellite coordinates. A description of the method is given as well as some of the particular techniques used in both the participating laboratories. Preliminary results are presented.

  18. Placental Expressions of CDKN1C and KCNQ1OT1 in Monozygotic Twins with Selective Intrauterine Growth Restriction.

    PubMed

    Gou, Chenyu; Liu, Xiangzhen; Shi, Xiaomei; Chai, Hanjing; He, Zhi-Ming; Huang, Xuan; Fang, Qun

    2017-10-01

    CDKN1C and KCNQ1OT1 are imprinted genes that might be potential regulators of placental development. This study investigated placental expressions of CDKN1C and KCNQ1OT1 in monozygotic twins with and without selective intrauterine growth restriction (sIUGR). Seventeen sIUGR and fifteen normal monozygotic(MZ) twin pairs were examined. Placental mRNA expressions of CDKN1C and KCNQ1OT1 were detected by real-time fluorescent quantitative PCR. CDKN1C protein expression was detected by immunohistochemical assay and Western-blotting. In the sIUGR group, smaller fetuses had a smaller share of the placenta, and CDKN1C protein expression was significantly increased while KCNQ1OT1 mRNA expression was significantly decreased. The CDKN1C/KCNQ1OT1 mRNA ratio was lower in the larger fetus than in the smaller fetus (p < .05). In the control group, CDKN1C protein expression showed no difference between larger and smaller fetuses, while KCNQ1OT1 mRNA expression was significantly lower in the larger fetus, and the CDKN1C/KCNQ1OT1 mRNA ratio was higher in the larger fetus than in the smaller fetus (p < .05). Our findings showed that pathogenesis of sIUGR may be related to the co-effect of the up-regulated protein expression of CDKN1C and down-regulated mRNA expression of KCNQ1OT1 in the placenta.

  19. Counterpart of MASTER OT J084140.94+722732.6

    NASA Astrophysics Data System (ADS)

    Nesci, Roberto

    2016-02-01

    Following the ATel #8725 by Balanutsa et al. about MASTER OT J084140.94+722732.6, I made aperture photometry on all the Palomar survey plates (12) available from the MAST archive to get an indication of the star color.

  20. 12 CFR 502.10 - How does OTS calculate the semi-annual assessment for savings associations?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... §§ 502.15 through 502.25 of this part. (b) OTS uses the September 30 Thrift Financial Report to determine amounts due at the January 31 assessment; and the March 31 Thrift Financial Report to determine amounts... your total assets as reported on Thrift Financial Reports filed with OTS. ...

  1. 12 CFR 502.27 - How does OTS determine the risk/complexity component for a savings and loan holding company?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false How does OTS determine the risk/complexity...-Calculation of Assessments § 502.27 How does OTS determine the risk/complexity component for a savings and loan holding company? (a) OTS computes the risk/complexity component for responsible savings and loan...

  2. An 8-Year Longitudinal Study of Overreaching in 114 Elite Female Chinese Wrestlers

    PubMed Central

    Tian, Ye; He, Zihong; Zhao, Jiexiu; Tao, Dalang; Xu, Kuiyuan; Midgley, Adrian; McNaughton, Lars

    2015-01-01

    Context: Successful training involves structured overload but must avoid the combination of excessive overload and inadequate recovery. Objective: The aim of this study was to determine the incidence of functional overreaching (FOR), nonfunctional overreaching (NFOR), and overtraining syndrome in elite female wrestlers during their normal training and competition schedules and to explore the utility of blood markers for the early detection of overreaching. Classification of FOR, NFOR, and overtraining syndrome was based on the European Congress of Sports Medicine position statement. Design: Case series. Setting: China Institute of Sport Science. Patients or Other Participants: Over an 8-year period, 114 wrestlers from the women's Asian wrestling team were monitored to help identify if and when they experienced FOR, NFOR, or overtraining syndrome. Main Outcome Measure(s): Creatine kinase, hemoglobin, testosterone, and cortisol were measured throughout the period to identify whether wrestlers were outside the reference intervals (constructed from normal recovery data) during periods of overreaching and not overreaching. Results: Among the 114 athletes, there were 13 (3.6%) instances of FOR, 23 (6.4%) instances of NFOR, and 2 (0.6%) instances of overtraining syndrome. The diagnostic sensitivity for FOR was 38%, 15%, 45%, and 18% for creatine kinase, hemoglobin, testosterone, and cortisol, respectively. The diagnostic sensitivity for NFOR was 29%, 33%, 26%, and 35% for creatine kinase, hemoglobin, testosterone, and cortisol, respectively. Specificity was 79%, 88%, 90%, and 82% for creatine kinase, hemoglobin, testosterone, and cortisol, respectively. Post hoc analysis showed no mean differences in creatine kinase (F = 0.5, P = .47), hemoglobin (F = 3.8, P = .052), testosterone (F = 0.2, P = .62), or cortisol (F = 0.04, P = .85) between monitoring periods when wrestlers were and were not diagnosed with FOR and NFOR. Conclusions: Coaches and sports scientists should not

  3. Long noncoding RNA SOX2OT contributes to gastric cancer progression by sponging miR-194-5p from AKT2.

    PubMed

    Qu, Fei; Cao, Peilong

    2018-05-18

    Gastric cancer (GC) is a highly malignant cancer with poor prognosis. Long non-coding RNA (LncRNA) may play an important role in tumor progression. Our present study aimed to explore the effect of LncRNA SOX2OT on GC progression. We observed that SOX2OT was overexpressed in GC tissues and cell lines. Overexpressed SOX2OT promoted cell proliferation and metastasis of GC cells (SGC-7901, TMK-1) and the phosphorylation of AKT2 as well, while knockdown of SOX2OT reversed these effects. Besides that, miR-194-5p was predicted to be a target of SOX2OT and decreased expression of miR-194-5p was observed in GC tissues and cell lines. Overexpressed miR-194-5p counteracted the promoting role of SOX2OT on cell proliferation and invasion of GC cells. Moreover, AKT2 was predicted to be a target of miR-194-5p. The expression of AKT2 was negatively regulated by miR-194-5p while positively regulated by SOX2OT. Overexpressed AKT2 also promoted GC cell proliferation and invasion. Our in vitro experiments suggested that SOX2OT promoted cell proliferation and metastasis of GC cells via sponging miR-194-5p from AKT2. Finally, our in vivo experiments indicated that overexpressed SOX2OT promoted GC tumor growth and metastasis in nude mice. Taken together, our present study suggested that SOX2OT contributed to GC progression via sponging miR-194-5p from AKT2 both in vitro and in vivo. The SOX2OT-miR-194-5p-AKT2 axis may provide a new perspective for treatment of GC. Copyright © 2018. Published by Elsevier Inc.

  4. OT discovered by MASTER during Fermi Trigger Num 430645968 follow up observations follow up observations

    NASA Astrophysics Data System (ADS)

    Tiurina, N.; Balanutsa, P.; Denisenko, D.; Lipunov, V.; Gorbovskoy, E.; Kornilov, V.; Chazov, V.; Kuznetsov, A.; Vladimirov, V.; Yecheistov, V.; Shumkov, V.; Ivanov, K.; Yazev, S.; Budnev, N.; Konstantinov, E.; Chuvalaev, O.; Poleshchuk, V.; Gress, O.; Parkhomenko, A.; Tlatov, A.; Dormidontov, D.; Senik, V.; Yurkov, V.; Sergienko, Y.; Varda, D.; Sinyakov, E.; Gabovich, A.; Krushinsky, V.; Zalozhnih, I.; Popov, A.; Bourdanov, A.; Podvorotny, P.; Shurpakov, S.; Levato, H.; Saffe, C.; Mallamaci, C.; Lopez, C.; Podest, F.

    2014-08-01

    MASTER-Tunka auto-detection system during follow-up Fermi Trigger 430645968 observations (GCN 16745) discovered OT source at: MASTER-Tunka auto-detection system discovered MASTER OT J230448.20+324534.1 at (RA, Dec) = 23h 04m 48.20s +32d 45m 34.1s on 2014-08-25.62245 UT.

  5. LEARNING STRATEGY REFINEMENT REVERSES EARLY SENSORY CORTICAL MAP EXPANSION BUT NOT BEHAVIOR: SUPPORT FOR A THEORY OF DIRECTED CORTICAL SUBSTRATES OF LEARNING AND MEMORY

    PubMed Central

    Elias, Gabriel A.; Bieszczad, Kasia M.; Weinberger, Norman M.

    2015-01-01

    Primary sensory cortical fields develop highly specific associative representational plasticity, notably enlarged area of representation of reinforced signal stimuli within their topographic maps. However, overtraining subjects after they have solved an instrumental task can reduce or eliminate the expansion while the successful behavior remains. As the development of this plasticity depends on the learning strategy used to solve a task, we asked whether the loss of expansion is due to the strategy used during overtraining. Adult male rats were trained in a three-tone auditory discrimination task to bar-press to the CS+ for water reward and refrain from doing so during the CS− tones and silent intertrial intervals; errors were punished by a flashing light and time-out penalty. Groups acquired this task to a criterion within seven training sessions by relying on a strategy that was “bar-press from tone-onset-to-error signal” (“TOTE”). Three groups then received different levels of overtraining: Group ST, none; Group RT, one week; Group OT, three weeks. Post-training mapping of their primary auditory fields (A1) showed that Groups ST and RT had developed significantly expanded representational areas, specifically restricted to the frequency band of the CS+ tone. In contrast, the A1 of Group OT was no different from naïve controls. Analysis of learning strategy revealed this group had shifted strategy to a refinement of TOTE in which they self-terminated bar-presses before making an error (“iTOTE”). Across all animals, the greater the use of iTOTE, the smaller was the representation of the CS+ in A1. Thus, the loss of cortical expansion is attributable to a shift or refinement in strategy. This reversal of expansion was considered in light of a novel theoretical framework (CONCERTO) highlighting four basic principles of brain function that resolve anomalous findings and explaining why even a minor change in strategy would involve concomitant shifts of

  6. Learning strategy refinement reverses early sensory cortical map expansion but not behavior: Support for a theory of directed cortical substrates of learning and memory.

    PubMed

    Elias, Gabriel A; Bieszczad, Kasia M; Weinberger, Norman M

    2015-12-01

    Primary sensory cortical fields develop highly specific associative representational plasticity, notably enlarged area of representation of reinforced signal stimuli within their topographic maps. However, overtraining subjects after they have solved an instrumental task can reduce or eliminate the expansion while the successful behavior remains. As the development of this plasticity depends on the learning strategy used to solve a task, we asked whether the loss of expansion is due to the strategy used during overtraining. Adult male rats were trained in a three-tone auditory discrimination task to bar-press to the CS+ for water reward and refrain from doing so during the CS- tones and silent intertrial intervals; errors were punished by a flashing light and time-out penalty. Groups acquired this task to a criterion within seven training sessions by relying on a strategy that was "bar-press from tone-onset-to-error signal" ("TOTE"). Three groups then received different levels of overtraining: Group ST, none; Group RT, one week; Group OT, three weeks. Post-training mapping of their primary auditory fields (A1) showed that Groups ST and RT had developed significantly expanded representational areas, specifically restricted to the frequency band of the CS+ tone. In contrast, the A1 of Group OT was no different from naïve controls. Analysis of learning strategy revealed this group had shifted strategy to a refinement of TOTE in which they self-terminated bar-presses before making an error ("iTOTE"). Across all animals, the greater the use of iTOTE, the smaller was the representation of the CS+ in A1. Thus, the loss of cortical expansion is attributable to a shift or refinement in strategy. This reversal of expansion was considered in light of a novel theoretical framework (CONCERTO) highlighting four basic principles of brain function that resolve anomalous findings and explaining why even a minor change in strategy would involve concomitant shifts of involved brain

  7. The prognostic value of long noncoding RNA Sox2ot expression in various cancers: A systematic review and meta-analysis.

    PubMed

    Song, Xiaoyang; Yao, Hongyan; Liu, Jinlin; Wang, Qiang

    2018-05-19

    Several investigations have explored the prognostic value of long noncoding RNA Sox2 overlapping transcript (lncRNA Sox2ot) expression in human cancers, however, with inconsistent results. The aim of this study was to evaluate the prognostic role of lncRNA Sox2ot expression in various cancers. PubMed, Web of Science, Embase, and Cochrane Library were comprehensively searched to retrieve relevant studies. The relationships between lncRNA Sox2ot expression and prognostic parameters were detected, including overall survival (OS), tumor differentiation, clinical stage, distant metastasis, lymph node metastasis and so on. A total of 10 studies involving 943 cancer patients were finally included into the study. High lncRNA Sox2ot expression was significantly related to shorter OS in cancers (HR = 2.06, 95%CI = 1.67-2.55, P < 0.01). The cancer patients with high lncRNA Sox2ot expression tended to have worse tumor differentiation (P = 0.04), advanced clinical stage (P < 0.01), earlier distant metastasis (P < 0.01), and earlier lymph node metastasis (P = 0.01) compared to those with low lncRNA Sox2ot expression. However, there was no distinct correlation between lncRNA Sox2ot expression and age (P = 0.87), gender (P = 0.48), tumor size (P = 0.08), or vascular invasion (P = 0.07). High lncRNA Sox2ot expression was significantly associated with worse OS, advanced clinical stage, worse tumor differentiation, earlier distant metastasis, and earlier lymph node metastasis in various cancers. LncRNA Sox2ot expression might a promising prognostic factor in various cancers. Copyright © 2018 Elsevier B.V. All rights reserved.

  8. Gene expression profiles of prohibitin in testes of Octopus tankahkeei (ot-phb) revealing its possible role during spermiogenesis.

    PubMed

    Mao, Hai-Tao; Wang, Da-Hui; Lan, Zhou; Zhou, Hong; Yang, Wan-Xi

    2012-05-01

    Prohibitin is essential for intracellular homeostasis and stabilization of mitochondrial respiratory chain complexes. To explore its functions during spermiogenesis of Octopus tankahkeei (O. tankahkeei), we have cloned and sequenced the cDNA of this mammalian PHB homologue (termed ot-PHB) from the testes of O. tankahkeei. The 1165 bp ot-phb cDNA contains a 100 bp 5' UTR, a 882 bp open reading frame and a 183 bp 3' UTR. The putative ot-PHB protein owns a transmembrane domain from 6 to 31 amino acid (aa) and a putative PHB domain from 26 to 178 aa. Protein alignment demonstrated that ot-PHB had 73.3, 73.6, 74.0, 75.1, and 45.4% identity with its homologues in Homo sapiens, Mus muculus, Danio rerio, Xenopus tropicalis and Trypanosoma brucei, respectively. Tissue distribution profile analysis revealed its presence in all the tissues examined. In situ hybridization in spermiogenic cells demonstrated that ot-phb was expressed moderately at the beginning of the spermiogenesis. The abundance of transcripts increased in intermediate spermatids and in drastically remodeling final spermatids. In mature spermatozoa, the residuary transcripts concentrated around the chondriosomal mantle where mitochondria assemble around. In summary, the expression of ot-phb during spermiogenesis implicates a potential function of this protein during mitochondrial ubiquitination. It is the first time to implicate the role of prohibitin in cephalopod spermiogenesis.

  9. 12 CFR 502.50 - What fees does OTS charge?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false What fees does OTS charge? 502.50 Section 502.50 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY ASSESSMENTS AND FEES... consolidated with a savings association on the Consolidated Statement of Condition of the Thrift Financial...

  10. 8. Photocopy of a drawing (original in the Collection ot ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    8. Photocopy of a drawing (original in the Collection ot the PL&C, Shelf 128, Drawing 1766) PLAN OF PART OF THE MERRIMACK RIVER (PLAN OF DAM), FEBRUARY 1833 - Lowell Canal System, Pawtucket Dam, Merrimack River,above Pawtucket Falls, Lowell, Middlesex County, MA

  11. Spectroscopic Classification of MASTER OT J044212.20+230616.7

    NASA Astrophysics Data System (ADS)

    Shivvers, I.; Kelly, P. L.; Clubb, K. I.; Filippenko, A. V.

    2014-09-01

    We report that inspection of a CCD spectrum (range 330-1000 nm), obtained on September 22 UT with the 3-m Shane reflector (+ Kast) at Lick Observatory, shows that MASTER OT J044212.20+230616.7 (ATel #6484) is a Type IIn supernova.

  12. Over-Expression of the Mycobacterial Trehalose-Phosphate Phosphatase OtsB2 Results in a Defect in Macrophage Phagocytosis Associated with Increased Mycobacterial-Macrophage Adhesion

    PubMed Central

    Li, Hao; Wu, Mei; Shi, Yan; Javid, Babak

    2016-01-01

    Trehalose-6-phosphate phosphatase (OtsB2) is involved in the OtsAB trehalose synthesis pathway to produce free trehalose and is strictly essential for mycobacterial growth. We wished to determine the effects of OtsB2 expression on mycobacterial phenotypes such as growth, phagocytosis and survival in macrophages. Mycobacterium bovis-bacillus calmette-guerin (BCG) over-expressing OtsB2 were able to better survive in stationary phase. Over-expression of OtsB2 led to a decrease in phagocytosis but not survival in THP-1 macrophage-like cells, and this was not due to a decrease in general macrophage phagocytic activity. Surprisingly, when we investigated macrophage–mycobacterial interactions by flow cytometry and atomic force microscopy, we discovered that BCG over-expressing OtsB2 have stronger binding to THP-1 cells than wild-type BCG. These results suggest that altering OtsB2 expression has implications for mycobacterial host–pathogen interactions. Macrophage–mycobacteria phagocytic interactions are complex and merit further study. PMID:27867377

  13. Accuracy of Conventional PCR Targeting the 16S rRNA Gene with the Ot-16sRF1 and Ot-16sRR1 Primers for Diagnosis of Scrub Typhus: a Case-Control Study

    PubMed Central

    Kim, Choon-Mee; Cho, Min Keun; Yun, Na-Ra; Kim, Seok Won; Jang, Sook Jin; Ahn, Young-Joon; Lim, Donghoon

    2015-01-01

    We retrospectively evaluated the accuracy of conventional PCR targeting the 16S rRNA gene (16S C-PCR) using the Ot-16sRF1/Ot-16sRR1 primers for diagnosing scrub typhus. The diagnosis of Orientia tsutsugamushi infection by 16S C-PCR presented an increased sensitivity of 87.0% and specificity of 100% compared with those obtained with other targets and is thus a simple and clinically useful method with good diagnostic accuracy. PMID:26491185

  14. A multidisciplinary approach to overreaching detection in endurance trained athletes.

    PubMed

    Le Meur, Yann; Hausswirth, Christophe; Natta, Françoise; Couturier, Antoine; Bignet, Frank; Vidal, Pierre Paul

    2013-02-01

    In sport, high training load required to reach peak performance pushes human adaptation to their limits. In that process, athletes may experience general fatigue, impaired performance, and may be identified as overreached (OR). When this state lasts for several months, an overtraining syndrome is diagnosed (OT). Until now, no variable per se can detect OR, a requirement to prevent the transition from OR to OT. It encouraged us to further investigate OR using a multivariate approach, including physiological, biomechanical, cognitive, and perceptive monitoring. Twenty-four highly trained triathletes were separated into an overload group and a normo-trained group (NT) during 3 wk of training. Given the decrement of their running performance, 11 triathletes were diagnosed as OR after this period. A discriminant analysis showed that the changes of eight parameters measured during a maximal incremental test could explain 98.2% of the OR state (lactatemia, heart rate, biomechanical parameters and effort perception). Variations in heart rate and lactatemia were the two most discriminating factors. When the multifactorial analysis was restricted to these variables, the classification score reached 89.5%. Catecholamines and creatine kinase concentrations at rest did not change significantly in both groups. Running pattern was preserved and cognitive performance decrement was observed only at exhaustion in OR subjects. This study showed that monitoring various variables is required to prevent the transition between NT and OR. It emphasized that an OR index, which combines heart rate and blood lactate concentration changes after a strenuous training period, could be helpful to routinely detect OR.

  15. Genome sequence of the algicidal bacterium Kordia algicida OT-1.

    PubMed

    Lee, Hyun Sook; Kang, Sung Gyun; Kwon, Kae Kyoung; Lee, Jung-Hyun; Kim, Sang-Jin

    2011-08-01

    Kordia algicida OT-1 is an algicidal bacterium against the bloom-forming microalgae. The genome sequence of K. algicida revealed a number of interesting features, including the degradation of macromolecules, the biosynthesis of carotenoid pigment and secondary metabolites, and the capacity for gliding motility, which might facilitate the understanding of algicidal mechanisms.

  16. MASTER OT J072007.30+451611.6: Cataclysmic Variable with an Extreme Hot Spot

    NASA Astrophysics Data System (ADS)

    Denisenko, D.

    2018-05-01

    MASTER team has reported an unusual object MASTER OT J072007.30+451611.6 in ATel #11620 (T. Pogrosheva et al.). The object was observed at 17.0-17.2m during 9 minutes from 22:15:26 to 22:24:30 UT on 2018-04-26, but was below the detection limit (18.8m) 45 minutes before the first positive observation and 43 minutes after the last one. As noted by S. Otero in AAVSO VSX entry, MASTER OT J072007.30+451611.6 has an X-ray counterpart XMMSL2 J072007.4+451615.

  17. 12 CFR 502.27 - How does OTS determine the risk/complexity component for a savings and loan holding company?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... classifications and total consolidated holding company assets. OTS will establish these schedules in a Thrift Bulletin. (b) For the purposes of this section, the holding company risk/complexity classification is the most recent risk/complexity classification of which OTS notified the savings and loan holding company...

  18. MASTER-SAAO: contradictory SN and flaring OT

    NASA Astrophysics Data System (ADS)

    Balanutsa, P.; Lipunov, V.; Buckley, D.; Gorbovskoy, E.; Tiurina, N.; Kuznetsov, A.; Kornilov, V.; Gress, O.; Pogrosheva, T.; Shumkov, V.; Vladimirov, V.; Vlasenko, D.; Kuvshinov, D.; Gabovich, A.

    2017-07-01

    MASTER-SAAO auto-detection system ( Lipunov et al., "MASTER Global Robotic Net", Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 03h 42m 50.70s , -01d 52m 28s.7 on 2017-07-01.1753UT with unfiltered (6 images), that contradicts to Ia type detected in ATEL #10240 , ATEL #10225 for ATLAS17dcl ( http://www.supernova.thistlethwaites.com/sn2017/sndate.html ). It is in 8.4"W,20"S of PGC135685 with Btc=15.13, Vgsr=2773 http://leda.univ-lyon1.fr/ledacat.cgi?PGC135685 Spectral observations are required.

  19. Prader-Willi syndrome as a model of human hyperphagia.

    PubMed

    Tauber, Maithe; Diene, Gwenaelle; Mimoun, Emmanuelle; Çabal-Berthoumieu, Sophie; Mantoulan, Carine; Molinas, Catherine; Muscatelli, F; Salles, Jean Pierre

    2014-01-01

    Prader-Willi syndrome (PWS), first described in 1956, is considered as a paradigm of a neurodevelopmental disorder with severe and early obesity with hyperphagia and impaired satiety. The improved knowledge in the natural history and recent data on genetics offer new perspectives for understanding the metabolic and endocrine dysfunctions and possibly for treatment. Natural history of the disease has been described due to the early diagnosis performed in the first months of life and various nutritional phases have been described. In addition, there is clear evidence that the abnormal feeding behavior is included in the behavioral problems. Brain imaging studies have shown that some brain regions may be important in PWS. The role of SNORD116 gene cluster is detailed and its links with circadian rhythm and brain and hypothalamus development. Pathophysiology of the abnormal ghrelin levels and of OT dysfunction is documented. While no effect on appetite and weight regulation has been reported with ghrelin antagonists, OT has been shown to improve some of the behavioral problems in adults. We discuss our hypothesis of an abnormal ghrelin/OT/dopamine pathway which may explain the switch of nutritional phases and behavior. These new aspects offer an opportunity for therapeutic use and possible early intervention. © 2014 S. Karger AG, Basel.

  20. Glucuronidation of OTS167 in Humans Is Catalyzed by UDP-Glucuronosyltransferases UGT1A1, UGT1A3, UGT1A8, and UGT1A10

    PubMed Central

    Ramírez, Jacqueline; Mirkov, Snezana; House, Larry K.

    2015-01-01

    OTS167 is a potent maternal embryonic leucine zipper kinase inhibitor undergoing clinical testing as antineoplastic agent. We aimed to identify the UDP-glucuronosyltransferases (UGTs) involved in OTS167 metabolism, study the relationship between UGT genetic polymorphisms and hepatic OTS167 glucuronidation, and investigate the inhibitory potential of OTS167 on UGTs. Formation of a single OTS167-glucuronide (OTS167-G) was observed in pooled human liver (HLM) (Km = 3.4 ± 0.2 µM), intestinal microsomes (HIM) (Km = 1.7 ± 0.1 µM), and UGTs. UGT1A1 (64 µl/min/mg) and UGT1A8 (72 µl/min/mg) exhibited the highest intrinsic clearances (CLint) for OTS167, followed by UGT1A3 (51 µl/min/mg) and UGT1A10 (47 µl/min/mg); UGT1A9 was a minor contributor. OTS167 glucuronidation in HLM was highly correlated with thyroxine glucuronidation (r = 0.91, P < 0.0001), SN-38 glucuronidation (r = 0.79, P < 0.0001), and UGT1A1 mRNA (r = 0.72, P < 0.0001). Nilotinib (UGT1A1 inhibitor) and emodin (UGT1A8 and UGT1A10 inhibitor) exhibited the highest inhibitory effects on OTS167-G formation in HLM (68%) and HIM (47%). We hypothesize that OTS167-G is an N-glucuronide according to mass spectrometry. A significant association was found between rs6706232 and reduced OTS167-G formation (P = 0.03). No or weak UGT inhibition (range: 0–21%) was observed using clinically relevant OTS167 concentrations (0.4–2 µM). We conclude that UGT1A1 and UGT1A3 are the main UGTs responsible for hepatic formation of OTS167-G. Intestinal UGT1A1, UGT1A8, and UGT1A10 may contribute to first-pass OTS167 metabolism after oral administration. PMID:25870101

  1. Glucuronidation of OTS167 in Humans Is Catalyzed by UDP-Glucuronosyltransferases UGT1A1, UGT1A3, UGT1A8, and UGT1A10.

    PubMed

    Ramírez, Jacqueline; Mirkov, Snezana; House, Larry K; Ratain, Mark J

    2015-07-01

    OTS167 is a potent maternal embryonic leucine zipper kinase inhibitor undergoing clinical testing as antineoplastic agent. We aimed to identify the UDP-glucuronosyltransferases (UGTs) involved in OTS167 metabolism, study the relationship between UGT genetic polymorphisms and hepatic OTS167 glucuronidation, and investigate the inhibitory potential of OTS167 on UGTs. Formation of a single OTS167-glucuronide (OTS167-G) was observed in pooled human liver (HLM) (Km = 3.4 ± 0.2 µM), intestinal microsomes (HIM) (Km = 1.7 ± 0.1 µM), and UGTs. UGT1A1 (64 µl/min/mg) and UGT1A8 (72 µl/min/mg) exhibited the highest intrinsic clearances (CLint) for OTS167, followed by UGT1A3 (51 µl/min/mg) and UGT1A10 (47 µl/min/mg); UGT1A9 was a minor contributor. OTS167 glucuronidation in HLM was highly correlated with thyroxine glucuronidation (r = 0.91, P < 0.0001), SN-38 glucuronidation (r = 0.79, P < 0.0001), and UGT1A1 mRNA (r = 0.72, P < 0.0001). Nilotinib (UGT1A1 inhibitor) and emodin (UGT1A8 and UGT1A10 inhibitor) exhibited the highest inhibitory effects on OTS167-G formation in HLM (68%) and HIM (47%). We hypothesize that OTS167-G is an N-glucuronide according to mass spectrometry. A significant association was found between rs6706232 and reduced OTS167-G formation (P = 0.03). No or weak UGT inhibition (range: 0-21%) was observed using clinically relevant OTS167 concentrations (0.4-2 µM). We conclude that UGT1A1 and UGT1A3 are the main UGTs responsible for hepatic formation of OTS167-G. Intestinal UGT1A1, UGT1A8, and UGT1A10 may contribute to first-pass OTS167 metabolism after oral administration. Copyright © 2015 by The American Society for Pharmacology and Experimental Therapeutics.

  2. How much is too much? (Part 2) International Olympic Committee consensus statement on load in sport and risk of illness

    PubMed Central

    Schwellnus, Martin; Alonso, Juan-Manuel; Bahr, Roald; Clarsen, Ben; Dijkstra, H Paul; Gabbett, Tim J; Gleeson, Michael; Hutchinson, Mark R; Janse Van Rensburg, Christa; Meeusen, Romain; Orchard, John W; Pluim, Babette M; Raftery, Martin; Budgett, Richard; Engebretsen, Lars

    2016-01-01

    The modern-day athlete participating in elite sports is exposed to high training loads and increasingly saturated competition calendar. Emerging evidence indicates that inappropriate load management is a significant risk factor for acute illness and the overtraining syndrome. The IOC convened an expert group to review the scientific evidence for the relationship of load—including rapid changes in training and competition load, competition calendar congestion, psychological load and travel—and health outcomes in sport. This paper summarises the results linking load to risk of illness and overtraining in athletes, and provides athletes, coaches and support staff with practical guidelines for appropriate load management to reduce the risk of illness and overtraining in sport. These include guidelines for prescription of training and competition load, as well as for monitoring of training, competition and psychological load, athlete well-being and illness. In the process, urgent research priorities were identified. PMID:27535991

  3. 12 CFR 502.28 - How does OTS determine the organizational form component for a savings and loan holding company?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... component for a savings and loan holding company? 502.28 Section 502.28 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY ASSESSMENTS AND FEES Assessments Savings and Loan Holding Companies... savings and loan holding company that OTS regulates under section 10(l) of the HOLA. OTS will compute your...

  4. Determination of chemical properties in 'calçot' (Allium cepa L.) by near infrared spectroscopy and multivariate calibration.

    PubMed

    Sans, Silvia; Ferré, Joan; Boqué, Ricard; Sabaté, José; Casals, Joan; Simó, Joan

    2018-10-01

    'Calçots', the immature floral stems of second-year onion resprouts, are an economically important traditional crop in Catalonia (Spain). Classical approaches to evaluating the chemical properties of 'calçots' are time consuming and expensive; near-infrared spectroscopy (NIRS) may be faster and cheaper. We used NIRS to develop partial least square (PLS) models to predict dry matter, soluble solid content, titratable acidity, and ash content in cooked 'calçots'. To guarantee the robustness of the models, calibration samples were grown and analyzed in a first season (2014-15) and validation samples in a second season (2015-16). NIRS on puree spectra estimated dry matter and soluble solid content with excellent accuracy (R 2 pred  = 0.953, 0.985 and RPD = 4.571, 8.068, respectively). However, good estimation of titratable acidity and ash content required using ground dried puree spectra (R 2 pred  = 0.852, 0.820 and RPD = 2.590, 1.987, respectively). NIRS can be a helpful tool for 'calçots' breeding and quality control. Copyright © 2018 Elsevier Ltd. All rights reserved.

  5. Targeting the T-Lak cell originated protein kinase by OTS964 shrinks the size of power-law coded heterogeneous glioma stem cell populations

    PubMed Central

    Sugimori, Michiya; Hayakawa, Yumiko; Koh, Masaki; Hayashi, Tomohide; Tamura, Ryoi; Kuroda, Satoshi

    2018-01-01

    Glioblastoma resists chemoradiotherapy, then, recurs to be a fatal space-occupying lesion. The recurrence is caused by re-growing cell populations such as glioma stem cells (GSCs), suggesting that GSC populations should be targeted. This study addressed whether a novel anti-cancer drug, OTS964, an inhibitor for T-LAK cell originated protein kinase (TOPK), is effective in reducing the size of the heterogeneous GSC populations, a power-law coded heterogeneous GSC populations consisting of glioma sphere (GS) clones, by detailing quantitative growth properties. We found that OTS964 killed GS clones while suppressing the growth of surviving GS clones, thus identifying clone-eliminating and growth-disturbing efficacies of OTS964. The efficacies led to a significant size reduction in GS populations in a dose-dependent manner. The surviving GS clones reconstructed GS populations in the following generations; the recovery of GS populations fits a recurrence after the chemotherapy. The recovering GS clones resisted the clone-eliminating effect of OTS964 in sequential exposure during the growth recovery. However, surprisingly, the resistant properties of the recovered-GS clones had been plastically canceled during self-renewal, and then the GS clones had become re-sensitive to OTS964. Thus, OTS964 targets GSCs to eliminate them or suppress their growth, resulting in shrinkage of the power-law coded GSC populations. We propose a therapy focusing on long-term control in recurrence of glioblastoma via reducing the size of the GSC populations by OTS964. PMID:29423027

  6. Targeting the T-Lak cell originated protein kinase by OTS964 shrinks the size of power-law coded heterogeneous glioma stem cell populations.

    PubMed

    Sugimori, Michiya; Hayakawa, Yumiko; Koh, Masaki; Hayashi, Tomohide; Tamura, Ryoi; Kuroda, Satoshi

    2018-01-09

    Glioblastoma resists chemoradiotherapy, then, recurs to be a fatal space-occupying lesion. The recurrence is caused by re-growing cell populations such as glioma stem cells (GSCs), suggesting that GSC populations should be targeted. This study addressed whether a novel anti-cancer drug, OTS964, an inhibitor for T-LAK cell originated protein kinase (TOPK), is effective in reducing the size of the heterogeneous GSC populations, a power-law coded heterogeneous GSC populations consisting of glioma sphere (GS) clones, by detailing quantitative growth properties. We found that OTS964 killed GS clones while suppressing the growth of surviving GS clones, thus identifying clone-eliminating and growth-disturbing efficacies of OTS964. The efficacies led to a significant size reduction in GS populations in a dose-dependent manner. The surviving GS clones reconstructed GS populations in the following generations; the recovery of GS populations fits a recurrence after the chemotherapy. The recovering GS clones resisted the clone-eliminating effect of OTS964 in sequential exposure during the growth recovery. However, surprisingly, the resistant properties of the recovered-GS clones had been plastically canceled during self-renewal, and then the GS clones had become re-sensitive to OTS964. Thus, OTS964 targets GSCs to eliminate them or suppress their growth, resulting in shrinkage of the power-law coded GSC populations. We propose a therapy focusing on long-term control in recurrence of glioblastoma via reducing the size of the GSC populations by OTS964.

  7. Solar-energy-system performance evaluation: Honeywell OTS 44, Ocmulgee, Georgia

    NASA Technical Reports Server (NTRS)

    Mathur, A. K.; Pederson, S.

    1982-01-01

    The operation and technical performance of the solar operational test site (OTS 44) are described, based on data collected between April, 1981 and August, 1981. The following topics are discussed: system description, performance assessment, operating energy, energy savings, system maintenance, and conclusions. The solar energy system at OTS 44 is a hydronic heating and cooling system consisting of 5040 square feet of liquid cooled flat plate collectors; a 4000 gallon thermal storage tank; one 25 ton capacity organic Rankine cycle engine assisted water chillers; a forced draft cooling tower; and associated piping, pumps, valves, controls and heat rejection equipment. The solar system has eight basic modes of operation and several combination modes for providing space conditioning and hot water to the building. Data monitored during the 4 months of the operational test period found that the solar system collected 285 MMBtu of thermal energy of the total incident solar energy of 1040 MMBtu and provided 210 MMBtu for cooling and 10 MMBtu for heating and hot water. The net electrical energy saving due to the solar system was approximately 2600 kWh(e), and fossil energy saving was about 20 million Btu (MMBtu).

  8. Optimal Diphthongs: An OT Analysis of the Acquisition of Spanish Diphthongs

    ERIC Educational Resources Information Center

    Krause, Alice

    2013-01-01

    This dissertation investigates the acquisition of Spanish diphthongs by adult native speakers of English. The following research questions will be addressed: 1) How do adult native speakers of English pronounce sequences of two vowels in their L2 Spanish at different levels of acquisition? 2) Can OT learnability models, specifically the GLA,…

  9. Genome Sequence of the Algicidal Bacterium Kordia algicida OT-1 ▿

    PubMed Central

    Lee, Hyun Sook; Kang, Sung Gyun; Kwon, Kae Kyoung; Lee, Jung-Hyun; Kim, Sang-Jin

    2011-01-01

    Kordia algicida OT-1 is an algicidal bacterium against the bloom-forming microalgae. The genome sequence of K. algicida revealed a number of interesting features, including the degradation of macromolecules, the biosynthesis of carotenoid pigment and secondary metabolites, and the capacity for gliding motility, which might facilitate the understanding of algicidal mechanisms. PMID:21622754

  10. Improving Training Condition Assessment in Endurance Cyclists: Effects of Ganoderma lucidum and Ophiocordyceps sinensis Dietary Supplementation

    PubMed Central

    Rossi, Paola; Buonocore, Daniela; Altobelli, Elisa; Brandalise, Federico; Cesaroni, Valentina; Iozzi, Davide; Savino, Elena; Marzatico, Fulvio

    2014-01-01

    The main reasons for taking daily dietary supplements are to maintain good health, to improve homeostasis, and to create conditions for reducing the risk of disease. Due to growing market demand, the search for effective, nontoxic, natural compounds with antioxidant and ergogenic properties has increasingly become a matter of interest. This paper describes how a specific combination of fungal supplements can help improve the performance of endurance athletes. We report the effects of a brief 3-month trial of two fungal supplements, Ganoderma lucidum and Cordyceps sinensis (3 capsules of O. sinensis and 2 capsules of G. lucidum per day), in 7 healthy male volunteers, aged between 30 and 40 years, who are all amateur cyclists that participate in “Gran Fondo” cycling races. This trial investigated the effects of fungal supplements on the level of physical fitness of the athletes by monitoring and comparing the following biomarkers just before and after physical exertion: the testosterone/cortisol ratio in the saliva and oxidative stress (DPPH free radical scavenging activity). A decrease of more than 30% in the testosterone/cortisol ratio after race compared to before race was considered as a risk factor for nonfunctional overreaching (NFO) or the overtraining syndrome (OTS). The results show that, after 3 months of supplementation, the testosterone/cortisol ratio changed in a statistically significant manner, thereby protecting the athletes from NFO and OTS. Antioxidant activity was measured by quantifying the scavenging ability of the human serum on the synthetic free radical DPPH. After 3 months of fungal supplementation, the data demonstrate an increased scavenger capacity of free radicals in the athletes' serum after the race, thereby protecting the athletes from oxidative stress. PMID:24799948

  11. Improving Training Condition Assessment in Endurance Cyclists: Effects of Ganoderma lucidum and Ophiocordyceps sinensis Dietary Supplementation.

    PubMed

    Rossi, Paola; Buonocore, Daniela; Altobelli, Elisa; Brandalise, Federico; Cesaroni, Valentina; Iozzi, Davide; Savino, Elena; Marzatico, Fulvio

    2014-01-01

    The main reasons for taking daily dietary supplements are to maintain good health, to improve homeostasis, and to create conditions for reducing the risk of disease. Due to growing market demand, the search for effective, nontoxic, natural compounds with antioxidant and ergogenic properties has increasingly become a matter of interest. This paper describes how a specific combination of fungal supplements can help improve the performance of endurance athletes. We report the effects of a brief 3-month trial of two fungal supplements, Ganoderma lucidum and Cordyceps sinensis (3 capsules of O. sinensis and 2 capsules of G. lucidum per day), in 7 healthy male volunteers, aged between 30 and 40 years, who are all amateur cyclists that participate in "Gran Fondo" cycling races. This trial investigated the effects of fungal supplements on the level of physical fitness of the athletes by monitoring and comparing the following biomarkers just before and after physical exertion: the testosterone/cortisol ratio in the saliva and oxidative stress (DPPH free radical scavenging activity). A decrease of more than 30% in the testosterone/cortisol ratio after race compared to before race was considered as a risk factor for nonfunctional overreaching (NFO) or the overtraining syndrome (OTS). The results show that, after 3 months of supplementation, the testosterone/cortisol ratio changed in a statistically significant manner, thereby protecting the athletes from NFO and OTS. Antioxidant activity was measured by quantifying the scavenging ability of the human serum on the synthetic free radical DPPH. After 3 months of fungal supplementation, the data demonstrate an increased scavenger capacity of free radicals in the athletes' serum after the race, thereby protecting the athletes from oxidative stress.

  12. 12 CFR 563b.200 - What actions may OTS take on my application?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... record under part 563e of this chapter and your business plan to determine how you will serve the... that you will serve. (2) OTS may deny your application if your business plan does not demonstrate that...

  13. Approach to the Underperforming Athlete.

    PubMed

    Solomon, Mary L; Weiss Kelly, Amanda K

    2016-03-01

    Children and adolescents who participate in intense sports training may face physical and psychologic stresses. The pediatric health care provider can play an important role in monitoring an athlete's preparation by obtaining a proper sports history, assessing sleep hygiene, discussing nutrition and hydration guidelines, and evaluating physiologic causes of fatigue. Educating parents and athletes on the potential risks of high-intensity training, inadequate rest and sleep, and a poor diet may improve the athlete's performance and prevent symptoms of overtraining syndrome. Infectious mononucleosis must also be considered a cause of fatigue among adolescents. The signs and symptoms of overtraining and burnout are discussed in this article. Copyright 2016, SLACK Incorporated.

  14. 12 CFR 550.560 - When may the OTS revoke my fiduciary powers?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false When may the OTS revoke my fiduciary powers? 550.560 Section 550.560 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Terminating Fiduciary Activities Revocation of Fiduciary Powers...

  15. 12 CFR 550.540 - When will the OTS terminate my fiduciary powers?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false When will the OTS terminate my fiduciary powers? 550.540 Section 550.540 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Terminating Fiduciary Activities Surrender of Fiduciary Powers...

  16. 12 CFR 550.540 - When will the OTS terminate my fiduciary powers?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false When will the OTS terminate my fiduciary powers? 550.540 Section 550.540 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Terminating Fiduciary Activities Surrender of Fiduciary Powers...

  17. 12 CFR 550.560 - When may the OTS revoke my fiduciary powers?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false When may the OTS revoke my fiduciary powers? 550.560 Section 550.560 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Terminating Fiduciary Activities Revocation of Fiduciary Powers...

  18. Synthesis and structure of [Na11(OtBu)10(OH)]: 1H NMR shift of a hydroxide ion encapsulated in a 21-vertex alcoholate cage.

    PubMed

    Geier, Jens; Grützmacher, Hansjörg

    2003-12-07

    [Na11(OtBu)10(OH)], a hydroxide enclosing 21-vertex cage compound, was found to crystallize from mixtures of sodium tert.butanolate with sodium hydroxide. Its structure can be derived from the known (NaOtBu)6-hexaprismane by replacing one butanolate unit with OH- and capping the latter with five additional units of NaOtBu. The hydroxide shows a signal at -3.21 ppm in the 1H NMR spectrum.

  19. Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients.

    PubMed

    Tauber, Maïthe; Mantoulan, Carine; Copet, Pierre; Jauregui, Joseba; Demeer, Genevieve; Diene, Gwenaëlle; Rogé, Bernadette; Laurier, Virginie; Ehlinger, Virginie; Arnaud, Catherine; Molinas, Catherine; Thuilleaux, Denise

    2011-06-24

    Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude socialization. A deficit in oxytocin (OT)-producing neurons of the hypothalamic paraventricular nucleus has been reported in these patients. In a double-blind, randomised, placebo-controlled study, 24 adult patients with PWS received a single intranasal administration of 24 IU of OT or placebo and were tested 45 min later on social skills. Behaviours were carefully monitored and scored using an in-house grid as follows: over the two days before drug administration, on the half-day following administration, and over the subsequent two days. All patients were in a dedicated PWS centre with more than ten years of experience. Patients are regularly admitted to this controlled environment. Patients with PWS who received a single intranasal administration of OT displayed significantly increased trust in others (P = 0.02) and decreased sadness tendencies (P = 0.02) with less disruptive behaviour (P = 0.03) in the two days following administration than did patients who received placebo. In the half-day following administration, we observed a trend towards less conflict with others (p = 0.07) in the OT group compared with the placebo group. Scores in tests assessing social skills were not significantly different between the two groups. This study needs to be reproduced and adapted. It nevertheless opens new perspectives for patients with PWS and perhaps other syndromes with behavioural disturbances and obesity. ClinicalTrials.gov: NCT01038570.

  20. MELATONIN ENHANCES JUNCTIONAL TRANSFER IN NORMAL C3H/1OT1/2 CELLS

    EPA Science Inventory

    There is strong evidence that pineal melatonin is involved in controlling neoplastic processes. e have reported that physiological, but not pharmacological or subphysiological, concentrations of melatonin enhance intercellular communication in normal C3H/1OT1/2 fibroblasts. ap ju...

  1. 12 CFR 563.590 - When will the OTS waive the prior notice requirement?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... TREASURY SAVINGS ASSOCIATIONS-OPERATIONS Notice of Change of Director or Senior Executive Officer § 563.590... as a director or senior executive officer before filing a notice under this subpart if the OTS issues... before filing a notice under this subpart, if the individual was not nominated by management and the...

  2. A C-Te-based binary OTS device exhibiting excellent performance and high thermal stability for selector application.

    PubMed

    Chekol, Solomon Amsalu; Yoo, Jongmyung; Park, Jaehyuk; Song, Jeonghwan; Sung, Changhyuck; Hwang, Hyunsang

    2018-08-24

    In this letter, we demonstrate a new binary ovonic threshold switching (OTS) selector device scalable down to ø30 nm based on C-Te. Our proposed selector device exhibits outstanding performance such as a high switching ratio (I on /I off  > 10 5 ), an extremely low off-current (∼1 nA), an extremely fast operating speed of <10 ns (transition time of <2 ns and delay time of <8 ns), high endurance (10 9 ), and high thermal stability (>450 °C). The observed high thermal stability is caused by the relatively small atomic size of C, compared to Te, which can effectively suppress the segregation and crystallization of Te in the OTS film. Furthermore, to confirm the functionality of the selector in a crossbar array, we evaluated a 1S-1R device by integrating our OTS device with a ReRAM (resistive random access memory) device. The 1S-1R integrated device exhibits a successful suppression of leakage current at the half-selected cell and shows an excellent read-out margin (>2 12 word lines) in a fast read operation.

  3. The ALMA OT in early science: supporting multiple customers

    NASA Astrophysics Data System (ADS)

    Bridger, Alan; Williams, Stewart; McLay, Stewart; Yatagai, Hiroshi; Schilling, Marcus; Biggs, Andrew; Tobar, Rodrigo; Warmels, Rein H.

    2012-09-01

    The ALMA Observatory is currently operating 'Early Science' observing. The Cycle0 and Cycle1 Calls for Proposals are part of this Early Science, and in both the ALMA Observing Tool plays a crucial role. This paper describes how the ALMA OT tackles the problem of making millimeter/sub-millimeter interferometry accessible to the wider community, while allowing "experts" the power and flexibility they need. We will also describe our approach to the challenges of supporting multiple customers, and explore the lessons learnt from the Early Science experiences. Finally we look ahead to the challenges presented by future observing cycles.

  4. How much is too much? (Part 2) International Olympic Committee consensus statement on load in sport and risk of illness.

    PubMed

    Schwellnus, Martin; Soligard, Torbjørn; Alonso, Juan-Manuel; Bahr, Roald; Clarsen, Ben; Dijkstra, H Paul; Gabbett, Tim J; Gleeson, Michael; Hägglund, Martin; Hutchinson, Mark R; Janse Van Rensburg, Christa; Meeusen, Romain; Orchard, John W; Pluim, Babette M; Raftery, Martin; Budgett, Richard; Engebretsen, Lars

    2016-09-01

    The modern-day athlete participating in elite sports is exposed to high training loads and increasingly saturated competition calendar. Emerging evidence indicates that inappropriate load management is a significant risk factor for acute illness and the overtraining syndrome. The IOC convened an expert group to review the scientific evidence for the relationship of load-including rapid changes in training and competition load, competition calendar congestion, psychological load and travel-and health outcomes in sport. This paper summarises the results linking load to risk of illness and overtraining in athletes, and provides athletes, coaches and support staff with practical guidelines for appropriate load management to reduce the risk of illness and overtraining in sport. These include guidelines for prescription of training and competition load, as well as for monitoring of training, competition and psychological load, athlete well-being and illness. In the process, urgent research priorities were identified. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  5. CHANGES IN RESTING SALIVARY TESTOSTERONE, CORTISOL AND INTERLEUKIN-6 AS BIOMARKERS OF OVERTRAINING.

    PubMed

    Anderson, Travis; Haake, Simon; Lane, Amy R; Hackney, Anthony C

    2016-01-01

    Overtraining (OVT) is a concern for many athletes. Immunological (increased interleukin-6 [IL-6]) and hormonal (increased cortisol [C], decreased free testosterone [fT]) biomarkers have been analyzed during training to detect OVT development. This study determined if resting levels of salivary IL-6, T, and C change during a pre-season resistance training (RT) program in 20 Division I American football players (mean ± SD: age = 19.1 ± 1.1 years; height = 185.4 ± 6.7 cm; mass = 102.0 ± 22.2 kg; body fat = 14.7 ± 7.6%). 1RM squat, bench press and Olympic-style clean, IL-6, C and T were assessed at baseline (WK1), week 4 (WK4), week 6 (WK6) along with psychological status (PS) to determine affective state. 1RM (bench press: 121.6 ± 36.3 kg vs. 127.4 ± 35.9 kg, squat: 187.2 ± 30.2 kg, 190.9 ± 28.1 kg, clean: 116.8 ± 14.6 kg, vs. 119.2 ± 14.5 kg), IL-6 (1.42 ± 1.77 pg/mL vs. 5.60 ± 12.57 pg/mL) and C (2.57 ± 2.46 nmol/L vs. 5.33 ± 4.94) increased signihcantly from WK1 to WK6 ( p < .05), fT decreased signihcantly (417.44 ± 83.63 pmol/Lvs. 341.10 ± 87.79 pmol/L) from WK1 to WK6 ( p < .05). PS was minimally affected during the study. Signihcant biomarker changes were detected, but no OVT was induced (i.e. performance improved). Therefore, directional changes in these biomarkers may not be sufficiently reflective of OVT in RT programs.

  6. Reversal of hepatorenal syndrome type 1 with terlipressin plus albumin vs. placebo plus albumin in a pooled analysis of the OT-0401 and REVERSE randomised clinical studies.

    PubMed

    Sanyal, A J; Boyer, T D; Frederick, R T; Wong, F; Rossaro, L; Araya, V; Vargas, H E; Reddy, K R; Pappas, S C; Teuber, P; Escalante, S; Jamil, K

    2017-06-01

    The goal of hepatorenal syndrome type 1 (HRS-1) treatment is to improve renal function. Terlipressin, a synthetic vasopressin analogue, is a systemic vasoconstrictor used for the treatment of HRS-1, where it is available. To compare the efficacy of terlipressin plus albumin vs. placebo plus albumin in patients with HRS-1. Pooled patient-level data from two large phase 3, randomised, placebo-controlled studies were analysed for HRS reversal [serum creatinine (SCr) value ≤133 μmol/L], 90-day survival, need for renal replacement therapy and predictors of HRS reversal. Patients received intravenous terlipressin 1-2 mg every 6 hours plus albumin or placebo plus albumin up to 14 days. The pooled analysis comprised 308 patients (terlipressin: n = 153; placebo: n = 155). HRS reversal was significantly more frequent with terlipressin vs. placebo (27% vs. 14%; P = 0.004). Terlipressin was associated with a more significant improvement in renal function from baseline until end of treatment, with a mean between-group difference in SCr concentration of -53.0 μmol/L (P < 0.0001). Lower SCr, lower mean arterial pressure and lower total bilirubin and absence of known precipitating factors for HRS were independent predictors of HRS reversal and longer survival in terlipressin-treated patients. Terlipressin plus albumin resulted in a significantly higher rate of HRS reversal vs. albumin alone in patients with HRS-1. Terlipressin treatment is associated with improved renal function. (ClinicalTrials.gov identifier: OT-0401, NCT00089570; REVERSE, NCT01143246). © 2017 The Authors. Alimentary Pharmacology and Therapeutics published by John Wiley & Sons Ltd.

  7. Excessive training induces molecular signs of pathologic cardiac hypertrophy.

    PubMed

    da Rocha, Alisson L; Teixeira, Giovana R; Pinto, Ana P; de Morais, Gustavo P; Oliveira, Luciana da C; de Vicente, Larissa Gaioto; da Silva, Lilian E C M; Pauli, José R; Cintra, Dennys E; Ropelle, Eduardo R; de Moura, Leandro P; Mekary, Rania A; de Freitas, Ellen C; da Silva, Adelino S R

    2018-05-24

    Chronic exercise induces cardiac remodeling that promotes left ventricular hypertrophy and cardiac functional improvement, which are mediated by the mammalian or the mechanistic target of rapamycin (mTOR) as well as by the androgen and glucocorticoid receptors (GRs). However, pathological conditions (i.e., chronic heart failure, hypertension, and aortic stenosis, etc.) also induce cardiac hypertrophy, but with detrimental function, high levels of proinflammatory cytokines and myostatin, elevated fibrosis, reduced adenosine monophosphate-activated protein kinase (AMPK) activation, and fetal gene reactivation. Furthermore, recent studies have evidenced that excessive training induced an inflammatory status in the serum, muscle, hypothalamus, and liver, suggesting a pathological condition that could also be detrimental to cardiac tissue. Here, we verified the effects of three running overtraining (OT) models on the molecular parameters related to physiological and pathological cardiac hypertrophy. C57BL/6 mice performed three different OT protocols and were evaluated for molecular parameters related to physiological and pathological cardiac hypertrophy, including immunoblotting, reverse transcription polymerase chain reaction, histology, and immunohistochemistry analyses. In summary, the three OT protocols induced left ventricle (LV) hypertrophy with signs of cardiac fibrosis and negative morphological adaptations. These maladaptations were accompanied by reductions in AMPKalpha (Thr172) phosphorylation, androgen receptor, and GR expressions, as well as by an increase in interleukin-6 expression. Specifically, the downhill running-based OT model reduced the content of some proteins related to the mTOR signaling pathway and upregulated the β-isoform of myosin heavy-chain gene expression, presenting signs of LV pathological hypertrophy development. © 2018 Wiley Periodicals, Inc.

  8. Treatment of geographic atrophy by the topical administration of OT-551: results of a phase II clinical trial.

    PubMed

    Wong, Wai T; Kam, Waynekid; Cunningham, Denise; Harrington, Molly; Hammel, Keri; Meyerle, Catherine B; Cukras, Catherine; Chew, Emily Y; Sadda, Srinivas R; Ferris, Frederick L

    2010-12-01

    To investigate the safety and preliminary efficacy of OT-551, a disubstituted hydroxylamine with antioxidant properties, for the treatment of geographic atrophy (GA), the advanced atrophic form of age-related macular degeneration (AMD). The study was a single-center, open-label phase II trial, enrolling 10 participants with bilateral GA. Topical 0.45% OT-551 was administered in one randomly assigned eye three times daily for 2 years. Safety measures were assessed by complete ophthalmic examination, fundus photography, and review of symptoms. The primary efficacy outcome measure was the change in best corrected visual acuity at 24 months. Secondary efficacy measures included changes in area of GA, contrast sensitivity, microperimetry measurements, and total drusen area from baseline. Study drug was well tolerated and was associated with few adverse events. The mean change in BCVA at 2 years was +0.2 ± 13.3 letters in the study eyes and -11.3 ± 7.6 letters in fellow eyes (P = 0.0259). However, no statistically significant differences were found between the study and fellow eyes for all other secondary outcome measures. OT-551 was well tolerated by study participants and was not associated with any serious adverse effects. Efficacy measurements in this small study indicate a possible effect in maintaining visual acuity. However, the absence of significant effects on other outcomes measures in this study suggests that OT-551, in the current concentration and mode of delivery, may have limited or no benefit as a treatment for GA (ClinicalTrials.gov number, NCT00306488).

  9. 12 CFR 585.120 - What factors will OTS consider in reviewing my application?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false What factors will OTS consider in reviewing my application? 585.120 Section 585.120 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY PROHIBITED SERVICE AT SAVINGS AND LOAN HOLDING COMPANIES Exemptions § 585.120 What factors will...

  10. Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients

    PubMed Central

    2011-01-01

    Background Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude socialization. A deficit in oxytocin (OT)-producing neurons of the hypothalamic paraventricular nucleus has been reported in these patients. Methods In a double-blind, randomised, placebo-controlled study, 24 adult patients with PWS received a single intranasal administration of 24 IU of OT or placebo and were tested 45 min later on social skills. Behaviours were carefully monitored and scored using an in-house grid as follows: over the two days before drug administration, on the half-day following administration, and over the subsequent two days. All patients were in a dedicated PWS centre with more than ten years of experience. Patients are regularly admitted to this controlled environment. Results Patients with PWS who received a single intranasal administration of OT displayed significantly increased trust in others (P = 0.02) and decreased sadness tendencies (P = 0.02) with less disruptive behaviour (P = 0.03) in the two days following administration than did patients who received placebo. In the half-day following administration, we observed a trend towards less conflict with others (p = 0.07) in the OT group compared with the placebo group. Scores in tests assessing social skills were not significantly different between the two groups. Conclusions This study needs to be reproduced and adapted. It nevertheless opens new perspectives for patients with PWS and perhaps other syndromes with behavioural disturbances and obesity. Trial registration number ClinicalTrials.gov: NCT01038570 PMID:21702900

  11. DISCOVERY OF PRECURSOR LUMINOUS BLUE VARIABLE OUTBURSTS IN TWO RECENT OPTICAL TRANSIENTS: THE FITFULLY VARIABLE MISSING LINKS UGC 2773-OT AND SN 2009ip

    SciTech Connect

    Smith, Nathan; Miller, Adam; Li Weidong

    2010-04-15

    We present progenitor-star detections, light curves, and optical spectra of supernova (SN) 2009ip and the 2009 optical transient in UGC 2773 (U2773-OT), which were not genuine SNe. Precursor variability in the decade before outburst indicates that both of the progenitor stars were luminous blue variables (LBVs). Their pre-outburst light curves resemble the S Doradus phases that preceded giant eruptions of the prototypical LBVs {eta} Carinae and SN 1954J (V12 in NGC 2403), with intermediate progenitor luminosities. Hubble Space Telescope detections a decade before discovery indicate that the SN 2009ip and U2773-OT progenitors were supergiants with likely initial masses of 50-80more » M {sub sun} and {approx}>20 M {sub sun}, respectively. Both outbursts had spectra befitting known LBVs, although in different physical states. SN 2009ip exhibited a hot LBV spectrum with characteristic speeds of 550 km s{sup -1}, plus evidence for faster material up to 5000 km s{sup -1}, resembling the slow Homunculus and fast blast wave of {eta} Carinae. In contrast, U2773-OT shows a forest of narrow absorption and emission lines comparable to that of S Dor in its cool state, plus [Ca II] emission and an infrared excess indicative of dust, similar to SN 2008S and the 2008 optical transient in NGC 300 (N300-OT). The [Ca II] emission is probably tied to a dusty pre-outburst environment, and is not a distinguishing property of the outburst mechanism. The LBV nature of SN 2009ip and U2773-OT may provide a critical link between historical LBV eruptions, while U2773-OT may provide a link between LBVs and the unusual dust-obscured transients SN 2008S and N300-OT. Future searches will uncover more examples of precursor LBV variability of this kind, providing key clues that may help unravel the instability driving LBV eruptions in massive stars.« less

  12. Software OT&E Guidelines. Volume 1. Software Test Manager’s Handbook

    DTIC Science & Technology

    1981-02-01

    on reverse side If neceeary and identify by block number) The Software OT&E Guidelines is a set of handbooks prepared by the Computer / Support Systems...is one of a set of handbooks prepared by the Computer /Support Systems Division of the Test and Evaluation Directorate, Air Force Test and Evaluation...15 E. Software Maintainability .. .. ........ ... 16 F. Standard Questionnaires. .. .. ....... .... 16 1. Operator- Computer Interface Evaluation

  13. VizieR Online Data Catalog: Follow-up photometry of M101 OT2015-1 (Blagorodnova+, 2017)

    NASA Astrophysics Data System (ADS)

    Blagorodnova, N.; Kotak, R.; Polshaw, J.; Kasliwal, M. M.; Cao, Y.; Cody, A. M.; Doran, G. B.; Elias-Rosa, N.; Fraser, M.; Fremling, C.; Gonzalez-Fernandez, C.; Harmanen, J.; Jencson, J.; Kankare, E.; Kudritzki, R.-P.; Kulkarni, S. R.; Magnier, E.; Manulis, I.; Masci, F. J.; Mattila, S.; Nugent, P.; Ochner, P.; Pastorello, A.; Reynolds, T.; Smith, K.; Sollerman, J.; Taddia, F.; Terreran, G.; Tomasella, L.; Turatto, M.; Vreeswijk, P. M.; Wozniak, P.; Zaggia, S.

    2017-07-01

    The location of M101-OT2015-1 has been serendipitously imaged by numerous telescopes and instruments over the last 15 years (from 2000 to 2015). Our best quality pre-discovery image (seeing of 0.55") is an r-band exposure at -3625 days pre-peak from the Canada-France-Hawaii Telescope (CFHT). The historical optical data for M101-OT was retrieved from the CFHT MegaPrime and CFHT12K/Mosaic, using single and combined exposures, Pan-STARRS-1/GPC1 (PS1), Isaac Newton Telescope/Wide Field Camera (INT/WFC), and Sloan Digital Sky Survey (SDSS) DR 10 (Ahn+ 2014, see V/147). Unfortunately, there are no HST images covering the location of the source. Post-discovery optical magnitudes were obtained from the reported followup astronomer's telegrams (ATels), Liverpool Telescope (LT), the Nordic Optical Telescope (NOT), and the Palomar P48 and P60 telescopes. The infrared data were retrieved from CFHT/WIRCam, UKIRT/WFCAM, and the Spitzer Infrared Array Camera in 3.6 and 4.5um as part of the SPitzer InfraRed Intensive Transients Survey (SPIRITS) (Kasliwal+, 2017ApJ...839...88K). Details of pre-discovery photometry and post-discovery optical photometry may be found in the Appendices Tables 1 and 2, respectively. We obtained spectra of M101-OT using a range of facilities in 2015 Feb-Jul. (3 data files).

  14. 12 CFR 516.15 - Must I meet with OTS before I file my application?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... with OTS before filing your application. You must submit a draft business plan before this meeting. (2... you to submit a draft business plan or other relevant information before this meeting. (b) Contacting... pre-filing meeting or a draft business plan, the Regional Office will determine whether it will...

  15. MASTER: bright OT discovered during Fermi trigger 512353690/GRB170328A inspection

    NASA Astrophysics Data System (ADS)

    Gorbovskoy, E.; Lipunov, V.; Buckley, D.; Rebolo, R.; Serra-Ricart, M.; Gress, O.; Tiurina, N.; Balanutsa, P.; Kornilov, V.; Vladimirov, V.

    2017-03-01

    MASTER-SAAO auto-detection system ( Lipunov et al., "MASTER Global Robotic Net", Advances in Astronomy, 2010, 30L ) discovered OT source at (RA, Dec) = 18h 45m 46.55s -35d 28m 47.6s on 2017-03-28.06645 UT during Fermi trigger 512353690(GRB170328A) inspection https://gcn.gsfc.nasa.gov/other/512353690.fermi (trigger time is 17/03/28 00:28:05.53UT).

  16. The place of occupational therapy in rehabilitation strategies of complex regional pain syndrome: Comparative study of 60 cases.

    PubMed

    Rome, L

    2016-10-01

    The purpose of the study was to assess the value of combining occupational therapy (OT) with physical therapy (PT) for the rehabilitation of complex regional pain syndrome (CRPS) and to measure its effectiveness on activities of daily life. Sixty patients with CRPS type 1 were recruited and interviewed between September 1, 2014 and February 1, 2015. Thirty patients had undergone PT and thirty had undergone PT+OT. They were administered the short-form of the "Assessment of Life Habits" questionnaire (v.3.0 LIFE-H) created in Canada. This questionnaire consists of 16 items exploring activities of daily living, which were used to compare the effectiveness of the two rehabilitation protocols. The results of each test were submitted to the Wilcoxon test. After confirming the complexity of CRPS in terms of its etiology, clinical signs and progression, rehabilitation was effective, especially for pain. The patients who received PT+OT had on average 10% better dressing and undressing function, 25% better for meal preparation, and 20% better on personal care than those who underwent PT only. In CRPS, OT combined with PT brings a real benefit in restoring the essential activities of daily life. This strategy could be implemented as soon the diagnosis confirmed and continued for a very long time. It helps to avoid the risk of dependence on third parties. Copyright © 2016 SFCM. Published by Elsevier Masson SAS. All rights reserved.

  17. 12 CFR 550.580 - When may I conduct fiduciary activities without obtaining OTS approval?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false When may I conduct fiduciary activities without obtaining OTS approval? 550.580 Section 550.580 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Activities Exempt From This Part § 550.580...

  18. 78 FR 54401 - Removal of Transferred OTS Regulations Regarding Post-Employment Activities of Senior Examiners

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-09-04

    ... 336 and 390 RIN 3064-AD98 Removal of Transferred OTS Regulations Regarding Post-Employment Activities... Restrictions on Post-Employment Activities of Senior Examiners. This subpart was included in the regulations... restrictions for post-employment activities of senior examiners of all insured depository institutions for...

  19. Levels of Hepatic Activating Transcription Factor 6 and Caspase-3 Are Downregulated in Mice after Excessive Training.

    PubMed

    Pinto, Ana P; da Rocha, Alisson L; Oliveira, Luciana da C; Morais, Gustavo P; de Vicente, Larissa G; Cintra, Dennys E; Pauli, José R; Moura, Leandro P; Ropelle, Eduardo R; da Silva, Adelino S R

    2017-01-01

    Recently, we demonstrated that different running overtraining (OT) protocols with the same external load, but performed downhill (OTR/down), uphill (OTR/up), and without inclination (OTR), led to hepatic fat accumulation. As the disruption of endoplasmic reticulum (ER) homeostasis is linked to animal models of fatty liver disease, we investigated the effects of these OT models on the proteins related to ER stress (i.e., BiP, inositol-requiring enzyme 1, protein kinase RNA-like endoplasmic reticulum kinase, eIF2alpha, ATF6beta, and glucose-regulated protein 94) and apoptosis (C/EBP-homologous protein, Caspase-3, 4, and 12, Bax, and tumor necrosis factor receptor-associated factor 2) in livers of C57BL/6 mice. Also, aerobic training can attenuate cardiac ER stress and improve exercise capacity. Therefore, we investigated whether the decrease in performance induced by our OT protocols is linked to ER stress and apoptosis in mouse hearts. The rodents were divided into six groups: naïve (N, sedentary mice), control (CT, sedentary mice submitted to the performance evaluations), trained (TR), OTR/down, OTR/up, and OTR groups. Rotarod, incremental load, exhaustive, and grip force tests were used to evaluate performance. After the grip force test, the livers and cardiac muscles (i.e., left ventricle) were removed and used for immunoblotting. All of the OT protocols led to similar responses in the performance parameters and displayed significantly lower hepatic ATF6beta values compared to the N group. The OTR/down group exhibited lower liver cleaved caspase-3 values compared to the CT group. However, the other proteins related to ER stress and apoptosis were not modulated. Also, the cardiac proteins related to ER stress and apoptosis were not modulated in the experimental groups. In conclusion, the OT protocols decreased the levels of hepatic ATF6beta, and the OTR/down group decreased the levels of hepatic cleaved caspase-3. Also, the decrease in performance induced by our

  20. Ontogenesis of oxytocin pathways in the mammalian brain: late maturation and psychosocial disorders

    PubMed Central

    Grinevich, Valery; Desarménien, Michel G.; Chini, Bice; Tauber, Maithé; Muscatelli, Françoise

    2014-01-01

    Oxytocin (OT), the main neuropeptide of sociality, is expressed in neurons exclusively localized in the hypothalamus. During the last decade, a plethora of neuroendocrine, metabolic, autonomic and behavioral effects of OT has been reported. In the urgency to find treatments to syndromes as invalidating as autism, many clinical trials have been launched in which OT is administered to patients, including adolescents and children. However, the impact of OT on the developing brain and in particular on the embryonic and early postnatal maturation of OT neurons, has been only poorly investigated. In the present review we summarize available (although limited) literature on general features of ontogenetic transformation of the OT system, including determination, migration and differentiation of OT neurons. Next, we discuss trajectories of OT receptors (OTR) in the perinatal period. Furthermore, we provide evidence that early alterations, from birth, in the central OT system lead to severe neurodevelopmental diseases such as feeding deficit in infancy and severe defects in social behavior in adulthood, as described in Prader-Willi syndrome (PWS). Our review intends to propose a hypothesis about developmental dynamics of central OT pathways, which are essential for survival right after birth and for the acquisition of social skills later on. A better understanding of the embryonic and early postnatal maturation of the OT system may lead to better OT-based treatments in PWS or autism. PMID:25767437

  1. Spitzer Observations of the New Luminous Red Nova M85 OT2006-1

    NASA Astrophysics Data System (ADS)

    Rau, A.; Kulkarni, S. R.; Ofek, E. O.; Yan, L.

    2007-04-01

    M85 OT2006-1 is the latest and most brilliant addition to the small group of known luminous red novae (LRNe). An identifying characteristic of the previously detected events (M31 RV, V4332 Sgr, and V838 Mon) was a spectral redward evolution connected with an emerging infrared component following the optical decay. Here we report on the discovery of a similar feature in Keck NIRC and Spitzer photometry of M85 OT2006-1 6 months posteruption. We find that its 2.1-22 μm spectral energy distribution is best described by a blackbody with effective temperature Teff=950+/-150 K and bolometric luminosity L=2.9+0.4-0.5×105 Lsolar. Assuming spherical geometry, the blackbody effective radius, R=2.0+0.6-0.4×104 Rsolar, and corresponding expansion velocity, v=870+260-180 km s-1, are remarkably similar to the properties of M31 RV 70 days after its eruption. Furthermore, we propose a search strategy for LRNe in the local universe making use of the longevity of their infrared excess emission and discuss the expected number of events in the Spitzer Infrared Nearby Galaxies Survey.

  2. Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis

    PubMed Central

    Tosetti, Valentina; Sassone, Jenny; Ferri, Anna L. M.; Taiana, Michela; Bedini, Gloria; Nava, Sara; Brenna, Greta; Di Resta, Chiara; Pareyson, Davide; Di Giulio, Anna Maria; Carelli, Stephana

    2017-01-01

    The complex architecture of adult brain derives from tightly regulated migration and differentiation of precursor cells generated during embryonic neurogenesis. Changes at transcriptional level of genes that regulate migration and differentiation may lead to neurodevelopmental disorders. Androgen receptor (AR) is a transcription factor that is already expressed during early embryonic days. However, AR role in the regulation of gene expression at early embryonic stage is yet to be determinate. Long non-coding RNA (lncRNA) Sox2 overlapping transcript (Sox2OT) plays a crucial role in gene expression control during development but its transcriptional regulation is still to be clearly defined. Here, using Bicalutamide in order to pharmacologically inactivated AR, we investigated whether AR participates in the regulation of the transcription of the lncRNASox2OTat early embryonic stage. We identified a new DNA binding region upstream of Sox2 locus containing three androgen response elements (ARE), and found that AR binds such a sequence in embryonic neural stem cells and in mouse embryonic brain. Our data suggest that through this binding, AR can promote the RNA polymerase II dependent transcription of Sox2OT. Our findings also suggest that AR participates in embryonic neurogenesis through transcriptional control of the long non-coding RNA Sox2OT. PMID:28704421

  3. Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis.

    PubMed

    Tosetti, Valentina; Sassone, Jenny; Ferri, Anna L M; Taiana, Michela; Bedini, Gloria; Nava, Sara; Brenna, Greta; Di Resta, Chiara; Pareyson, Davide; Di Giulio, Anna Maria; Carelli, Stephana; Parati, Eugenio A; Gorio, Alfredo

    2017-01-01

    The complex architecture of adult brain derives from tightly regulated migration and differentiation of precursor cells generated during embryonic neurogenesis. Changes at transcriptional level of genes that regulate migration and differentiation may lead to neurodevelopmental disorders. Androgen receptor (AR) is a transcription factor that is already expressed during early embryonic days. However, AR role in the regulation of gene expression at early embryonic stage is yet to be determinate. Long non-coding RNA (lncRNA) Sox2 overlapping transcript (Sox2OT) plays a crucial role in gene expression control during development but its transcriptional regulation is still to be clearly defined. Here, using Bicalutamide in order to pharmacologically inactivated AR, we investigated whether AR participates in the regulation of the transcription of the lncRNASox2OTat early embryonic stage. We identified a new DNA binding region upstream of Sox2 locus containing three androgen response elements (ARE), and found that AR binds such a sequence in embryonic neural stem cells and in mouse embryonic brain. Our data suggest that through this binding, AR can promote the RNA polymerase II dependent transcription of Sox2OT. Our findings also suggest that AR participates in embryonic neurogenesis through transcriptional control of the long non-coding RNA Sox2OT.

  4. 12 CFR 555.300 - Must I inform OTS before I use electronic means or facilities?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false Must I inform OTS before I use electronic means or facilities? 555.300 Section 555.300 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY ELECTRONIC OPERATIONS Requirements Applicable to All Savings Associations § 555.300 Must...

  5. Spectroscopic Classification of MASTER OT J110707.62-052244.0 as a Type Ia Supernova

    NASA Astrophysics Data System (ADS)

    Zheng, W.; Kim, M.; Shivvers, I.; Yuk, H.; Filippenko, A. V.

    2015-11-01

    We report that inspection of a CCD spectrum (range 350-1050 nm) of MASTER OT J110707.62-052244.0 (ATel #8236), obtained on Nov. 11.57 UT with the Shane 3-m reflector (+ Kast spectrograph) at Lick Observatory, shows that the object is a normal Type Ia supernova roughly 1 week past maximum brightness.

  6. Radiation Susceptibility Assessment of Off the Shelf (OTS) Hardware

    NASA Technical Reports Server (NTRS)

    Culpepper, William X.; Nicholson, Leonard L. (Technical Monitor)

    2000-01-01

    The reduction in budgets, shortening of schedules and necessity of flying near state of the art technology have forced projects and designers to utilize not only modern, non-space rated EEE parts but also OTS boards, subassemblies and systems. New instrumentation, communications, portable computers and navigation systems for the International Space Station, Space Shuttle, and Crew Return Vehicle are examples of the realization of this paradigm change at the Johnson Space Center. Because of this change, there has been a shift in the radiation assessment methodology from individual part testing using low energy heavy ions to board and box level testing using high-energy particle beams. Highlights of several years of board and system level testing are presented along with lessons learned, present areas of concern, insights into test costs, and future challenges.

  7. MASTER OT J014638.27+041324.4 is a Young Type IIP Supernova

    NASA Astrophysics Data System (ADS)

    Zheng, W.; Kelly, P. L.; Clubb, K. I.; Filippenko, A. V.

    2013-12-01

    We report that a CCD spectrum (range 350-1000 nm) of MASTER OT J014638.27+041324.4 (Shurpakov et al., ATel #5630) was obtained on Dec 6.5 UT with the Shane 3-m reflector (+Kast spectrograph) at Lick Observatory. The spectrum shows a blue continuum and weak, broad hydrogen Balmer lines having P-Cyg profiles, indicating that the object is a young Type IIP supernova. Weak He I 587.6 nm is also present.

  8. A simple procedure for construction of the orthonormal basis vectors of irreducible representations of O(5) in the OT (3) ⊗ON (2) basis

    NASA Astrophysics Data System (ADS)

    Pan, Feng; Ding, Xiaoxue; Launey, Kristina D.; Draayer, J. P.

    2018-06-01

    A simple and effective algebraic isospin projection procedure for constructing orthonormal basis vectors of irreducible representations of O (5) ⊃OT (3) ⊗ON (2) from those in the canonical O (5) ⊃ SUΛ (2) ⊗ SUI (2) basis is outlined. The expansion coefficients are components of null space vectors of the projection matrix with four nonzero elements in each row in general. Explicit formulae for evaluating OT (3)-reduced matrix elements of O (5) generators are derived.

  9. 12 CFR 550.100 - What factors may the OTS consider in its review of my application?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 5 2010-01-01 2010-01-01 false What factors may the OTS consider in its review of my application? 550.100 Section 550.100 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Obtaining Fiduciary Powers § 550.100 What...

  10. 12 CFR 550.100 - What factors may the OTS consider in its review of my application?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 5 2011-01-01 2011-01-01 false What factors may the OTS consider in its review of my application? 550.100 Section 550.100 Banks and Banking OFFICE OF THRIFT SUPERVISION, DEPARTMENT OF THE TREASURY FIDUCIARY POWERS OF SAVINGS ASSOCIATIONS Obtaining Fiduciary Powers § 550.100 What...

  11. Mechanistic Basis for High Reactivity of (salen)Co–OTs in the Hydrolytic Kinetic Resolution of Terminal Epoxides

    PubMed Central

    Nielsen, Lars P. C.; Zuend, Stephan J.; Ford, David D.; Jacobsen, Eric N.

    2012-01-01

    The (salen)Co(III)-catalyzed hydrolytic kinetic resolution (HKR) of terminal epoxides is a bimetallic process with a rate controlled by partitioning between a nucleophilic (salen)Co–OH catalyst and a Lewis acidic (salen)Co–X catalyst. The commonly used (salen)Co–OAc and (salen)Co–Cl precatalysts undergo complete and irreversible counterion addition to epoxide during the course of the epoxide hydrolysis reaction, resulting in quantitative formation of weakly Lewis acidic (salen)Co–OH, and severely diminished reaction rates in the late stages of HKR reactions. In contrast, (salen)Co–OTs maintains high reactivity over the entire course of HKR reactions. We describe here an investigation of catalyst partitioning with different (salen)Co–X precatalysts, and demonstrate that counterion addition to epoxide is reversible in the case of the (salen)Co–OTs. This reversible counterion addition results in stable partitioning between nucleophilic and Lewis acidic catalyst species, allowing highly efficient catalysis throughout the course of the HKR reaction. PMID:22292515

  12. Mechanistic basis for high reactivity of (salen)Co-OTs in the hydrolytic kinetic resolution of terminal epoxides.

    PubMed

    Nielsen, Lars P C; Zuend, Stephan J; Ford, David D; Jacobsen, Eric N

    2012-03-02

    The (salen)Co(III)-catalyzed hydrolytic kinetic resolution (HKR) of terminal epoxides is a bimetallic process with a rate controlled by partitioning between a nucleophilic (salen)Co-OH catalyst and a Lewis acidic (salen)Co-X catalyst. The commonly used (salen)Co-OAc and (salen)Co-Cl precatalysts undergo complete and irreversible counterion addition to epoxide during the course of the epoxide hydrolysis reaction, resulting in quantitative formation of weakly Lewis acidic (salen)Co-OH and severely diminished reaction rates in the late stages of HKR reactions. In contrast, (salen)Co-OTs maintains high reactivity over the entire course of HKR reactions. We describe here an investigation of catalyst partitioning with different (salen)Co-X precatalysts and demonstrate that counterion addition to epoxide is reversible in the case of the (salen)Co-OTs. This reversible counterion addition results in stable partitioning between nucleophilic and Lewis acidic catalyst species, allowing highly efficient catalysis throughout the course of the HKR reaction.

  13. Can clinicians and scientists explain and prevent unexplained underperformance syndrome in elite athletes: an interdisciplinary perspective and 2016 update

    PubMed Central

    Lewis, Nathan A; Collins, Dave; Pedlar, Charles R; Rogers, John P

    2015-01-01

    The coach and interdisciplinary sports science and medicine team strive to continually progress the athlete's performance year on year. In structuring training programmes, coaches and scientists plan distinct periods of progressive overload coupled with recovery for anticipated performances to be delivered on fixed dates of competition in the calendar year. Peaking at major championships is a challenge, and training capacity highly individualised, with fine margins between the training dose necessary for adaptation and that which elicits maladaptation at the elite level. As such, optimising adaptation is key to effective preparation. Notably, however, many factors (eg, health, nutrition, sleep, training experience, psychosocial factors) play an essential part in moderating the processes of adaptation to exercise and environmental stressors, for example, heat, altitude; processes which can often fail or be limited. In the UK, the term unexplained underperformance syndrome (UUPS) has been adopted, in contrast to the more commonly referenced term overtraining syndrome, to describe a significant episode of underperformance with persistent fatigue, that is, maladaptation. This construct, UUPS, reflects the complexity of the syndrome, the multifactorial aetiology, and that ‘overtraining’ or an imbalance between training load and recovery may not be the primary cause for underperformance. UUPS draws on the distinction that a decline in performance represents the universal feature. In our review, we provide a practitioner-focused perspective, proposing that causative factors can be identified and UUPS explained, through an interdisciplinary approach (ie, medicine, nutrition, physiology, psychology) to sports science and medicine delivery, monitoring, and data interpretation and analysis. PMID:27900140

  14. OT2_eegami_6: SPIRE Snapshot Survey II: Using SPT/CODEX Massive Clusters as Powerful Gravitational Lenses

    NASA Astrophysics Data System (ADS)

    Egami, E.

    2011-09-01

    On the extragalactic side, one of the most remarkable results coming out of Herschel is the discovery of extremely bright (>100 mJy in the SPIRE bands) gravitationally lensed galaxies. The great sensitivity and mapping speed of SPIRE have enabled us to find these rare extraordinary objects. What is truly exciting about these bright lensed galaxies is that they enable a variety of detailed multi-wavelength follow-up observations, shedding new light on the physical properties of these high-redshift sources. In this regard, our OT1 program, "SPIRE Snapshot Survey of Massive Galaxy Clusters" turned out to be a great success. After imaging ~50 galaxies out of 279 in the program, we have already found two spectacularly bright lensed galaxies, one of which is at a redshift of 4.69. This type of cluster-lensed sources are not only bright but also spatially stretched over a large scale, so ALMA (or NOEMA in the north) is likely to be able to study them at the level of individual GMCs. Such studies will open up a new frontier in the study of high-redshift galaxies. Here, we propose to extend this highly efficient and effective survey of gravitationally lensed galaxies to another 353 clusters carefully chosen from the SPT and CODEX cluster samples. These samples contain newly discovered high-redshift (z>0.3) massive (>3-4e14 Msun) clusters, which can be used as powerful gravitational lenses to magnify sources at high redshift. With the OT1 and OT2 surveys together, we expect to find ~20 highly magnified SPIRE sources with exceptional brightnesses (assuming a discovery rate of ~1/30). Such a unique sample of extraordinary objects will enable a variety of follow-up sciences, and will therefore remain as a great legacy of the Herschel mission for years to come.

  15. OT2_nflagey_2: Capturing missing evolved stars in the Galactic plane

    NASA Astrophysics Data System (ADS)

    Flagey, N.

    2011-09-01

    We discovered more than 400 compact shells in the MIPSGAL 24 microns survey of the Galactic plane. About 15% of all these objects were already known as planetary nebulae, supernova remnants, Wolf-Rayet stars, and luminous blue variables. The unknown bubbles are expected to be envelopes of evolved stars that could account for the ``missing massive stars in the Galaxy. Indeed, recent spectroscopic follow-ups in the near-IR and mid-IR have revealed several dust-free planetary nebulae with very hot central white dwarf and significantly increased the number of WR and LBV candidates. Our OT1 Priority 1 proposal just provided us with a first observation in the PACS-SED B2A mode of one object, revealing only a strong [N II] 122 microns line. Without further spectral information, identification and modeling of the target are impossible. However, analysis of the PACS and SPIRE data from the HiGal survey has recently enabled us to measure much higher detection rates of the shells in the far-IR than with MIPS 70 microns. We are thus very confident that dust features and/or gas lines can be detected with the PACS and SPIRE spectrometers. Therefore, we request complementary PACS-SED B2B and SPIRE-FTS observations on our OT1 sample. The complete far-IR/submm spectrum of each target will allow its unequivocal identification thanks to comparison with spectra of known evolved stars from the MESS key program. We will also model with much detail the different phases of the envelopes, thanks to our expertise in circumstellar envelopes, dust models and photoionization codes.

  16. OAO/MITSuME photometry of dwarf novae. II. HV Virginis and OT J012059.6+325545

    NASA Astrophysics Data System (ADS)

    Imada, Akira; Isogai, Keisuke; raki, Takahiro; Tanada, Shunsuke; Yanagisawa, Kenshi; Kawai, Nobuyuki

    2018-01-01

    We report on multicolor photometry of WZ Sge-type dwarf novae HV Vir and OT J012059.6+325545 during superoutbursts. These systems show early superhumps with mean periods of 0.057093(45) d for HV Vir and 0.057147(15) d for OT J012059.6+325545. The observed early superhumps showed a common feature that the brightness minima corresponded to the bluest peaks in color variations, which may be a ubiquitous phenomenon among early superhumps of WZ Sge-type dwarf novae. We confirmed that the amplitudes of early superhumps depend on wavelength: amplitudes with longer bandpass filters show larger values. This indicates that the light source of early superhumps is generated at the outer region of the vertically extended accretion disk. On the other hand, amplitudes of ordinary superhumps are likely to be independent of wavelength. This implies that the superhump light source is geometrically thin. We also examined color variations of ordinary superhumps and found that the bluest peaks in g΄ - Ic tend to coincide with the brightness minima, particularily in stage B superhumps. This may reflect that the pressure effect plays a dominant role during stage B superhumps.

  17. 12 CFR 502.26 - How does OTS calculate the semi-annual assessment for savings and loan holding companies?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... holding company's business, a component based on its organizational form, and a component based on its...-site supervision of a noncomplex, low risk savings and loan holding company structure. OTS will... company is the registered holding company at the highest level of ownership in a holding company structure...

  18. High-cadence Multi-color Observations of the Dwarf Nova KSP-OT-201503a by the KMTNet Supernova Program

    NASA Astrophysics Data System (ADS)

    Brown, Shannon; Moon, Dae-Sik; Ni, Yuan Qi; Drout, Maria; Antoniadis, John; Afsariardchi, Niloufar; Cha, Sang-Mok; Lee, Yongseok

    2018-06-01

    We report multicolor BVI monitoring and spectroscopic classification of the dwarf nova KSP-OT-201503a. The transient was detected by the Korean Microlensing Telescope Network (KMTNet) Supernova Program (KSP) in 2015 March, reached a peak apparent magnitude V ≃ 17.3 mag from a quiescent magnitude V ≃ 22.6 mag, and lasted for approximately 17 days. Our high-cadence sampling allows us to identify distinctive phases consisting of a rapid ascent, a main outburst composed of a flat plateau followed by a gradual dimming, and a quick decline. We observe the sharp transition between the ascent phase and main outburst phase, likely related to the deceleration of the heating front as it passes through the accretion disk. These features in the light curves indicate that the outburst is outside-in. Archival data reveal the outburst history of the source, showing at least three outbursts between 2011 and 2015. These are equally separated by approximately 25 months, though we find a recurrence time as short as 189 days is compatible with the archival data. An optical spectrum obtained 701 days from outburst peak shows prominent Balmer emission lines superimposed on a blue continuum, consistent with a cataclysmic variable in quiescence. The outburst properties of KSP-OT-201503a closely resemble those of U Gem-type dwarf novae usually associated with younger, longer-period systems above the period gap of 2–3 hr observed in cataclysmic variables. This suggests that the source may be a rare U Gem-type dwarf nova with a long recurrence time, though we are unable to rule out the possibility that KSP-OT-201503a lies below the period gap.

  19. 12 CFR 502.29 - How does OTS determine the condition component for a savings and loan holding company?

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... holding company? (a) If the most recent examination rating assigned to the responsible savings and loan holding company (or most recent examination rating assigned to any savings and loan holding company in the... system. OTS uses the most recent rating of which the savings and loan holding company has been notified...

  20. 12 CFR 502.29 - How does OTS determine the condition component for a savings and loan holding company?

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... holding company? (a) If the most recent examination rating assigned to the responsible savings and loan holding company (or most recent examination rating assigned to any savings and loan holding company in the... system. OTS uses the most recent rating of which the savings and loan holding company has been notified...

  1. 12 CFR 502.29 - How does OTS determine the condition component for a savings and loan holding company?

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... holding company? (a) If the most recent examination rating assigned to the responsible savings and loan holding company (or most recent examination rating assigned to any savings and loan holding company in the... system. OTS uses the most recent rating of which the savings and loan holding company has been notified...

  2. 12 CFR 502.29 - How does OTS determine the condition component for a savings and loan holding company?

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... holding company? (a) If the most recent examination rating assigned to the responsible savings and loan holding company (or most recent examination rating assigned to any savings and loan holding company in the... system. OTS uses the most recent rating of which the savings and loan holding company has been notified...

  3. 12 CFR 502.29 - How does OTS determine the condition component for a savings and loan holding company?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... holding company? (a) If the most recent examination rating assigned to the responsible savings and loan holding company (or most recent examination rating assigned to any savings and loan holding company in the... system. OTS uses the most recent rating of which the savings and loan holding company has been notified...

  4. /sup 45/Ca efflux for myometrial cells: comparison of the effects of prostaglandin F/sub 2/. cap alpha. (PGF/sub 2/), oxytocin (OT) and arachidonate (A)

    SciTech Connect

    Katona, G.; Molnar, M.; Toth, M.

    1986-03-01

    The aim of this study was to measure PGF/sub 2..cap alpha../-induced Ca/sup 2 +/ release from uterine cells and to compare this to the actions of OT and A. Smooth muscle cells isolated from the uterus (shell gland) of laying hens were cultured for 7 days in M199 plus 10% fetal calf serum. The cells were treated with digitonin (20..mu..M) and preloaded with /sup 45/Ca for 40 min. Addition of PGF/sub 2..cap alpha../ caused a biphasic /sup 45/Ca-efflux. There was a small but significant /sup 45/Ca-release within 30 sec (rapid phase) followed by a larger one within 7 min (slowmore » phase). In comparison, both OT and A stimulated /sup 45/Ca efflux during a single, slow phase. The maximal effect of A was observed at < 7 min, whereas that of OT was slower, peaking after 7 min. Mepacrin, an inhibitor of A release, attenuated the action of OT without having any effect on A promoted /sup 45/Ca-efflux. Indomethacin, an inhibitor of PG synthase, failed to suppress the Ca-releasing effect of A suggesting the A itself or a lipoxygenase product may have been responsible for the observed effects. Moreover, these results provide suggestive evidence that A release is an important step in the action of various uterotonic agents converging on the mobilization of intracellular Ca.« less

  5. Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus.

    PubMed

    Dombret, Carlos; Nguyen, Tuan; Schakman, Olivier; Michaud, Jacques L; Hardin-Pouzet, Hélène; Bertrand, Mathieu J M; De Backer, Olivier

    2012-11-01

    MAGED1, NECDIN and MAGEL2 are members of the MAGE gene family. The latter two of these genes have been involved in Prader-Willi syndrome (PWS), which includes hyperphagia, repetitive and compulsive behaviors, and cognitive impairment. Here, we show that Maged1-deficient mice develop progressive obesity associated with hyperphagia and reduced motor activity. Loss of Maged1 also results in a complex behavioral syndrome that includes reduced social interactions and memory, deficient sexual behavior, as well as increased anxiety and self-grooming. Oxytocin (OT), which is produced in the hypothalamus, can act as a neurotransmitter that reduces anxiety, promotes social behaviors and regulates food intake. Growing evidences indicate that OT is involved in autism. We found that Maged1 mutants showed a severe reduction in the levels of mature OT, but not of its precursors, in the hypothalamus. Moreover, the administration of OT rescued the deficit in social memory of these mice. We conclude that Maged1 is required for OT processing or stability. A decrease in mature OT levels in Maged1 mutants affects social interactions and possibly other behavioral processes. Our observations suggest that, in human, MAGED1 could play a role in autism or cause a neurodevelopmental condition that is reminiscent of the PWS.

  6. Entraining IDyOT: Timing in the Information Dynamics of Thinking

    PubMed Central

    Forth, Jamie; Agres, Kat; Purver, Matthew; Wiggins, Geraint A.

    2016-01-01

    We present a novel hypothetical account of entrainment in music and language, in context of the Information Dynamics of Thinking model, IDyOT. The extended model affords an alternative view of entrainment, and its companion term, pulse, from earlier accounts. The model is based on hierarchical, statistical prediction, modeling expectations of both what an event will be and when it will happen. As such, it constitutes a kind of predictive coding, with a particular novel hypothetical implementation. Here, we focus on the model's mechanism for predicting when a perceptual event will happen, given an existing sequence of past events, which may be musical or linguistic. We propose a range of tests to validate or falsify the model, at various different levels of abstraction, and argue that computational modeling in general, and this model in particular, can offer a means of providing limited but useful evidence for evolutionary hypotheses. PMID:27803682

  7. Identifying the predisposing factors, signs and symptoms of overreaching and overtraining in physical education professionals

    PubMed Central

    Viana, Ricardo B.; Gentil, Paulo; Lorenço, Vinício S.; Vieira, Carlos A.; Campos, Mário H.; Santos, Douglas A.T.; Silva, Wellington F.; Andrade, Marilia S.; Vancini, Rodrigo L.

    2018-01-01

    Background It is possible that physical education professionals, especially those who participate in aerobic activities, have predisposing factors, signs and symptoms of overreaching (OVR) and overtraining (OVT) due to a high load and volume of exercise followed by suboptimal recovery time. The present study aimed to identify the predisposing factors, signs and symptoms of OVR and OVT in physical education professionals. Methods A questionnaire consisting of 42 questions (10 questions group) about predisposing factors and signs/symptoms was answered by 132 physical education professionals from both sexes (83 men and 49 women) who were allocated into a resistance training group (RG, n = 74), aerobic training group (AG, n = 20) and resistance and aerobic training group (RAG, n = 38). A mean score was calculated ranging from 1 (completely absent) to 5 (severe) for each question group. A low occurrence of predisposing factors and signs and symptoms of OVR and OVT was considered to be a question group score 4 or lower. Profile of Mood State Questionnaire (POMS) was also applied. Results A mean score of 2.5 ± 0.7, 2.7 ± 0.7 and 2.7 ± 0.8 was found for all question groups for RG, AG and RAG, respectively. Of the total sample, 40.6% trained at least five times/week. The POMS revealed that 67.5% of the RG (n = 50), 80% of the AG (n = 16) and 60.5% of the RAG (n = 23) were classified as having no mood disorders and a standard graphic iceberg was presented. There were no statistical differences (p > 0.05) in the total mood disorders among RG (13.9 ± 24.5), AG (10.3 ± 25.1) and RAG (14.6 ± 27.9) groups. Conclusion Despite the volume of training/body working performed by the physical education professionals surveyed being greater than the recommended to achieve improvements on physical fitness, they did not show predisposing factors, signs or symptoms of OVR and OVT.

  8. MORPHOLOGICAL TRANSFORMATION AND DNA ADDUCT FORMATION BY BENZ[J]ACEANTHRYLENE AND ITS METABOLITES IN C3H1OT1/2CL8 CELLS: EVIDENCE FOR BOTH CYCLOPENTA-RING AND BAY REGION METABOLIC ACTIVATION PATHWAYS

    EPA Science Inventory

    Benz[j]aceanthrylene (B[j]A), a cyclopenta-fused polycyclic aromatic hydrocarbon (CP-PAH) related to 3-methylcholanthrene, has been studied to identify the major routes of metabolic activation in transformable C3H1OT1/2CLB (C3H1OT1/2) mouse embryo fibroblasts in culture. he morph...

  9. Definitize and Prepare Off-The-Shelf (OTS) Electronic Test Equipment (ETE) Specifications

    DTIC Science & Technology

    1978-07-01

    power consumption of the equipment shall be 30 watts. 3.5.2 Input power selection device. An input power selection device shall be provided for...36.2QCM( 14.25INIWX25.40r’’( 10 IM IHX 30 .48CM ( 121 MID 1U9.2,"M(43 IN1WX50.8CM( 20IN )HX57.15’"«I 22.5!N)D 36.8 3’"M(14.5IN IWX25.40rM( 10 IV...018 1437 3.63KG(aL8SI 2< 30 -a-MOD 11837 008 3350 8 .4KG’( 18.5L8S 1 315A 11837 008 3592 4.09KGt9L8S) OEFINITIZATITN "F OTS ETE

  10. Effects of a multivitamin/multimineral supplement on young males with physical overtraining: a placebo-controlled, randomized, double-blinded cross-over trial.

    PubMed

    Li, Xin; Huang, Wen Xu; Lu, Ju Ming; Yang, Guang; Ma, Fang Ling; Lan, Ya Ting; Meng, Jun Hua; Dou, Jing Tao

    2013-07-01

    To investigate the effects of vitamin-mineral supplement on young males with physical overtraining. Two hundred and forty male Chinese field artillery personnel who undertook large scale and endurance military training and were on ordinary Chinese diet were randomized to receive a multivitamin/multimineral supplement or a placebo for 1 week. After a 1-week wash-out period, a cross-over with 1 week course of a placebo or multivitamin/multimineral supplement was conducted. Blood and urine samples were analyzed for adrenal, gonadal and thyroid hormones. In addition, cellular immune parameters (CD3+, CD3+CD4+, CD3+CD8+, CD4/CD8, CD3-CD56+, CD3-CD19+) were examined and psychological tests were performed before and after the training program and nutrition intervention. After a large scale and endurance military training, the participants showed significantly increased thyroid function, decreased adrenal cortex, testosterone and immunological function, and significantly increased somatization, anger and tension. Compared to placebo, multivitamin/ multimineral intervention showed significant effects on functional recovery of the pituitary - adrenal axis, pituitary-gonadal axis, pituitary- thyroid axis and immune system as well as psychological parameters. High-intensity military operations have significant impacts on the psychology, physical ability and neuroendocrine-immune system in young males. Appropriate supplementation of multivitamin/multimineral can facilitate the recovery of the psychology, physical ability and neuroendocrine-immune system in young males who take ordinary Chinese diet. Copyright © 2013 The Editorial Board of Biomedical and Environmental Sciences. Published by China CDC. All rights reserved.

  11. Viscoelastic substance in prefilled syringe as an etiology of Toxic Anterior Segment Syndrome.

    PubMed

    Althomali, Talal Abdulrahman

    2016-09-01

    Toxic Anterior Segment Syndrome (TASS) is an acute postoperative inflammatory reaction in which a noninfectious substance enters the anterior segment and induces toxic damage to the intraocular tissues. To present etiologic investigation of two consecutive clusters of TASS. TASS outbreak and investigation: This paper presents two consecutive clusters of TASS in 15 of the 24 uneventful surgeries and the investigation carried out to find the etiology. After the occurrence of first cluster of TASS, sterilization-related etiology was explored; however, we did not find any lacunae in the sterilization and cleaning process in the operating theater (OT). Nevertheless, multiple changes in cleaning process were implemented. Still a second cluster of TASS was encountered in the following session of OT. Several other factors which include preservatives, hand gloves, intraocular lenses, medications/solutions, intraocular penetration of topically administered drugs, and viscoelastics were investigated as the possible etiology of the second consecutive cluster of TASS; however, most of them were ruled out. The newly introduced viscoelastic I-visc® 1.4% sodium hyaluronate (I medical, i-Medical Ophthalmic International GmbH, Heidelberg, Germany) was thought to be the most likely cause and was replaced with previously in use sodium hyaluronate 1.5% and lidocaine hydrochloride 1% (Visthesia, CZ, Germany) in the following session of OT. No further TASS incident was encountered after replacing the viscoelastic. Investigation revealed that 1.4% sodium hyaluronate in prefilled syringe (PFS) (I-visc® 1.4%) was the etiologic factor of two consecutive clusters of TASS. While TASS due to residual denatured ophthalamic viscosurgical devices (OVDs) is a common knowledge, current study brings out that even disposable viscoelastic material supplied in PFSs can be an etiology of TASS. It is important to recognize that contamination of OVDs with endotoxins can occur at the time of manufacturing

  12. SOX2OT variant 7 contributes to the synergistic interaction between EGCG and Doxorubicin to kill osteosarcoma via autophagy and stemness inhibition.

    PubMed

    Wang, Wanchun; Chen, Ding; Zhu, Kewei

    2018-02-23

    Doxorubicin is the preferred chemotherapeuticdrug for osteosarcoma treatment of which clinical efficacy is limited because of its chemo-resistance and cardiac toxicity. It is necessary to develop the combination regimen with complementary molecular mechanisms to reduce the side effects and enhance sensitivity of Doxorubicin. EGCG is a polyphenol in green tea with antitumor bioactivity,which has been found that its combination with certain chemotherapeutic drugs could improve the antitumor efficiency. In this study, MTT assay was used to detect the cell growth inhibition The CD133+/CD44+ cells were isolated from U2OS and SaoS2 cell lines using magnetic-activated cell sorting and identified by flow cytometry analysis. qRT-PCR was used for determining the relative mRNA levels of key genes. Immunofluorescence was performed to evaluate the autophagy flux alterations. Self-renewal ability was accessed by sphere-forming assay. Tumorigenicity in nude mice was preformed to evaluate tumorigenicity in vivo. We found that EGCG targeting LncRNA SOX2OT variant 7 produced synergistic effects with Doxorubicin on osteosarcoma cell growth inhibition. On the one hand, EGCG could reduce the Doxorubicin-induced pro-survival autophagy through decreasing SOX2OT variant 7 to improve the growth inhibition of Doxorubicin. On the other hand, EGCG could partially inactivate Notch3/DLL3 signaling cascade targeting SOX2OT variant 7 to reduce the stemness then abated drug-resistance of osteosarcoma cells. This study will help to reveal the molecular mechanisms of synergistic effects of EGCG and Doxorubicin on OS chemotherapy and improve the clinical efficacy of chemotherapy as well as provide a basis for developing antitumor drugs targeting osteosarcoma stem cells.

  13. The Persistent Eruption of UGC 2773-OT: finally, a decade-long extragalactic Eta Carinae analogue

    NASA Astrophysics Data System (ADS)

    Smith, Nathan; Andrews, Jennifer E.; Mauerhan, Jon C.; Zheng, WeiKang; Filippenko, Alexei V.; Graham, Melissa L.; Milne, Peter

    2016-02-01

    While supernova (SN) impostors resemble the Great Eruption of η Carinae in the sense that their spectra show narrow H lines and they have typical peak absolute magnitudes of -13 to -14 mag, most extragalactic events observed so far are quite different from η Car in duration. Their bright phases typically last for ˜100 d or less, rather than persisting for several years. The transient object UGC 2773-OT (discovered in 2009) had a similar peak absolute magnitude to other SN impostors, but with a gradual 5-yr pre-discovery rise. In the ˜6 yr since discovery, it has faded very slowly (0.26 mag yr-1). Overall, we suggest that its decade-long eruption is so far the best-known analogue of η Car's 19th century eruption. We discuss extensive spectroscopy of the ongoing eruption. The spectra show interesting changes in velocity and line shape that we discuss in detail, including an asymmetric Hα emission line that we show is consistent with the ejection of a bipolar nebula that could be very much like the Homunculus of η Car. Moreover, changes in the line width, line profile, blue excess emission resembling that of Type IIn SNe, and the intensity of Hα suggest the presence of strong circumstellar interaction in the eruption at late times. This supports the hypothesis that the extended plateau of η Car's eruption may have been powered by shock interaction as well. One interesting difference compared to η Car, however, is that UGC 2773-OT so far does not exhibit the repeated brief spikes in luminosity that have been associated with binary periastron events.

  14. Purification, crystallization and preliminary X-ray crystallographic analysis of the archaeal phosphoglycerate mutase PH0037 from Pyrococcus horikoshii OT3

    SciTech Connect

    Lokanath, Neratur K.; Kunishima, Naoki, E-mail: kunisima@spring8.or.jp

    2006-08-01

    The archaeal phosphoglycerate mutase PH0037 from P. horikoshii OT3 has been crystallized in space group R32, with unit-cell parameters a = 155.62, c = 230.35 Å. A 2.2 Å resolution data was collected at SPring-8 beamline BL26B1. Phosphoglycerate mutases catalyze the interconversion of 2-phosphoglycerate and 3-phosphoglycerate in glycolysis and gluconeogenesis pathways. The archaeal phosphoglycerate mutase PH0037 from Pyrococcus horikoshii OT3 has been overexpressed in Escherichia coli and purified. Crystals were obtained using the oil-microbatch method at 291 K. A native data set extending to a resolution of 2.2 Å has been collected and processed in space group R32. Assuming themore » presence of a dimer in the asymmetric unit, the V{sub M} value is calculated to be 3.0 Å{sup 3} Da{sup −1}, consistent with the dynamic light-scattering experiment result, which shows a dimeric state of the protein in solution. Molecular-replacement trials using the crystal structure of Bacilllus stearothermophilus phosphoglycerate mutase as a search model did not provide a satisfactory solution, indicating substantially different structures of these two phophoglycerate mutases.« less

  15. [Adaptation to hypoxia and hyperoxia improves physical endurance: the role of reactive oxygen species and redox-signaling].

    PubMed

    Sazontova, T G; Glazachev, O S; Bolotova, A V; Dudnik, E N; Striapko, N V; Bedareva, I V; Anchishkina, N A; Arkhipenko, Iu V

    2012-06-01

    We have conducted theoretical foundation, experimental analysis and a pilot study of a new method of adaptation to hypoxia and hyperoxia in the prevention of hypoxic and stress-induced disorders and improving the body's tolerance to physical stress. It has been shown in the experimental part that a combination of physical exercise with adaptation to hypoxia-hyperoxia significantly increased tolerance to acute physical load (APL) and its active phase. Analysis of lipid peroxidation processes, antioxidant enzymes and HSPs showed that short-term training for physical exercise by itself compensates the stressor, but not the hypoxic component of the APL, the combination of training with adaptation to hypoxia-hyperoxia completely normalizes the stressor and hypoxic components of APL. The pilot study has been performed to evaluate the effectiveness of hypoxic-hyperoxic training course in qualified young athletes with over-training syndrome. After completing the course of hypoxia-hyperoxia adaptation, 14 sessions, accompanied by light mode sports training, the athletes set the normalization of autonomic balance, increased resistance to acute hypoxia in hypoxic test, increased physical performance--increased PWC170, maximal oxygen consumption (VO2max) parameters, their relative values to body mass, diminished shift of rate pressure product in the load. Thus, we confirmed experimental findings that hypoxic-hyperoxic training optimizes hypoxic (increased athletes resistance to proper hypoxia) and stress (myocardium economy in acute physical stress testing) components in systemic adaptation and restoration of athletes' with over-training syndrome.

  16. Mental Fatigue and Physical and Cognitive Performance During a 2-Bout Exercise Test.

    PubMed

    Vrijkotte, Susan; Meeusen, Romain; Vandervaeren, Cloe; Buyse, Luk; Cutsem, Jeroen van; Pattyn, Nathalie; Roelands, Bart

    2018-04-01

    The 2-bout exercise protocol has been developed to diagnose nonfunctional overreaching and the "overtraining syndrome." It consists of 2 maximal exercise bouts separated by 4 hours. Mental fatigue negatively influences performance, but the effects of its occurrence during the 2-bout exercise protocol have never been investigated. The aim of this study was to examine whether mental fatigue (induced during the rest period) influences physical and cognitive performance during/after the second exercise bout of the 2-bout exercise protocol. Nine healthy, well-trained male cyclists participated in a single-blind, randomized, placebo-controlled crossover study. The intervention consisted of either 1.5-hour rest (control) or performing a computer-based Stroop task to induce mental fatigue. Cognitive (Eriksen Flanker task), physiological (lactate, maximum heart rate, and maximum wattage), and subjective data (mental fatigue-visual analog scale, Profile of Mood States, and rating of perceived exertion) were gathered. Ratings of fatigue, tension, and mental fatigue were affected in the mental fatigue condition (P < .05). Neither physiological nor cognitive differences were found between conditions. Ratings of mental fatigue were already affected after the first maximum exercise test (P < .05). Neither physical nor cognitive performance was affected by mental fatigue, but subjective ratings did reveal significant differences. It is recommended to exclude mentally challenging tasks during the 2-bout exercise protocol rest period to ascertain unaffected subjective test results. This study should be repeated in athletes diagnosed with nonfunctional overreaching/overtraining syndrome.

  17. Treatability Study in Support of Intrinsic Remediation for Site OT 24 at MacDill Air Force Base, Florida. Volume 2

    DTIC Science & Technology

    1997-01-01

    Not Sampled f PJ)ll PARSONS SAA - Some As Above Y Water level drilled LF-JENGINEERING SCIENCE.INC. Denver, Colorado L:\\45021\\,DRAWINGS\\BORELOGS\\OT-24...Remnediotion TS TOC - Top of Cosing G - GRAB MacDill Air Force Base, Florida NS- Not Sampled .PARUONU SAA - Same As Above VWater level drilled L!LJ...GRAB MacDill Air Force Base. Florida NS - Not Sampled fj•--PAMMMNuI SAA - Some As Above Y Water level drilled *NIIN I N Denver. Colorado L:\\45021

  18. DUSTY EXPLOSIONS FROM DUSTY PROGENITORS: THE PHYSICS OF SN 2008S AND THE 2008 NGC 300-OT

    SciTech Connect

    Kochanek, C. S.

    2011-11-01

    SN 2008S and the 2008 NGC 300-OT were explosive transients of stars self-obscured by very dense, dusty stellar winds. An explosive transient with an unobserved shock breakout luminosity of order 10{sup 10} L{sub sun} is required to render the transients little obscured and visible in the optical at their peaks. Such a large breakout luminosity then implies that the progenitor stars were cool, red supergiants, most probably {approx}9 M{sub sun} extreme asymptotic giant branch stars. As the shocks generated by the explosions propagate outward through the dense wind, they produce a shock luminosity in soft X-rays that powers the long-livedmore » luminosity of the transients. Unlike typical cases of transients exploding into a surrounding circumstellar medium, the progenitor winds in these systems are optically thick to soft X-rays, easily absorb radio emission, and rapidly reform dust destroyed by the peak luminosity of the transients. As a result, X-rays are absorbed by the gas and the energy is ultimately radiated by the reformed dust. Three years post-peak, both systems are still significantly more luminous than their progenitor stars, but they are again fully shrouded by the reformed dust and only visible in the mid-IR. The high luminosity and heavy obscuration may make it difficult to determine the survival of the progenitor stars for {approx}10 years. However, our model indicates that SN 2008S, but not the NGC 300-OT, should now be a detectable X-ray source. SN 2008S has a higher estimated shock velocity and a lower density wind, so the X-rays begin to escape at a much earlier phase.« less

  19. Extensive Training Is Insufficient to Produce The Work-Ethic Effect In Pigeons

    PubMed Central

    Vasconcelos, Marco; Urcuioli, Peter J

    2009-01-01

    Zentall and Singer (2007a) hypothesized that our failure to replicate the work-ethic effect in pigeons (Vasconcelos, Urcuioli, & Lionello-DeNolf, 2007) was due to insufficient overtraining following acquisition of the high- and low-effort discriminations. We tested this hypothesis using the original work-ethic procedure (Experiment 1) and one similar to that used with starlings (Experiment 2) by providing at least 60 overtraining sessions. Despite this extensive overtraining, neither experiment revealed a significant preference for stimuli obtained after high effort. Together with other findings, these data support our contention that pigeons do not reliably show a work-ethic effect. PMID:19230517

  20. Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

    PubMed

    Tenorio, Jair; Romanelli, Valeria; Martin-Trujillo, Alex; Fernández, García-Moya; Segovia, Mabel; Perandones, Claudia; Pérez Jurado, Luis A; Esteller, Manel; Fraga, Mario; Arias, Pedro; Gordo, Gema; Dapía, Irene; Mena, Rocío; Palomares, María; Pérez de Nanclares, Guiomar; Nevado, Julián; García-Miñaur, Sixto; Santos-Simarro, Fernando; Martinez-Glez, Víctor; Vallespín, Elena; Monk, David; Lapunzina, Pablo

    2016-10-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia. The molecular basis of this syndrome is complex and heterogeneous, involving genes located at 11p15.5. BWS is correlated with assisted reproductive techniques. BWS in individuals born following assisted reproductive techniques has been found to occur four to nine times higher compared to children with to BWS born after spontaneous conception. Here, we report a series of 187 patients with to BWS born either after assisted reproductive techniques or conceived naturally. Eighty-eight percent of BWS patients born via assisted reproductive techniques had hypomethylation of KCNQ1OT1:TSS-DMR in comparison with 49% for patients with BWS conceived naturally. None of the patients with BWS born via assisted reproductive techniques had hypermethylation of H19/IGF2:IG-DMR, neither CDKN1 C mutations nor patUPD11. We did not find differences in the frequency of multi-locus imprinting disturbances between groups. Patients with BWS born via assisted reproductive techniques had an increased frequency of advanced bone age, congenital heart disease, and decreased frequency of earlobe anomalies but these differences may be explained by the different molecular background compared to those with BWS and spontaneous fertilization. We conclude there is a correlation of the molecular etiology of BWS with the type of conception. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  1. Overexpression of prefoldin from the hyperthermophilic archaeum Pyrococcus horikoshii OT3 endowed Escherichia coli with organic solvent tolerance.

    PubMed

    Okochi, Mina; Kanie, Kei; Kurimoto, Masaki; Yohda, Masafumi; Honda, Hiroyuki

    2008-06-01

    Prefoldin is a jellyfish-shaped hexameric chaperone that captures a protein-folding intermediate and transfers it to the group II chaperonin for correct folding. In this work, we characterized the organic solvent tolerance of Escherichia coli cells that overexpress prefoldin and group II chaperonin from a hyperthermophilic archeaum, Pyrococcus horikoshii OT3. The colony-forming efficiency of E. coli cells overexpressing prefoldin increased by 1,000-fold and decreased the accumulation of intracellular organic solvent. The effect was impaired by deletions of the region responsible for the chaperone function of prefoldin. Therefore, we concluded that prefoldin endows E. coli cells by preventing accumulation of intracellular organic solvent through its molecular chaperone activity.

  2. Therapy service use among individuals with fragile X syndrome: findings from a US parent survey.

    PubMed

    Martin, G E; Ausderau, K K; Raspa, M; Bishop, E; Mallya, U; Bailey, D B

    2013-09-01

    Fragile X syndrome (FXS) is known to be associated with a range of developmental challenges, yet the occurrence and intensity of therapy services along with associated factors have not been determined. In a US national survey, caregivers provided information regarding the therapy services received by their sons (n = 1013) and daughters (n = 283) with FXS (from birth to 63 years; mean = 15.6 years, SD = 10.6). Caregivers reported (1) type, (2) amount, (3) location, and (4) overall satisfaction with services. Associations with other child variables and family income were also examined. Key findings included that 72% of males and 47% of females were currently receiving at least one type of therapy service; the most common services for both males and females were speech-language therapy (ST) and occupational therapy (OT). Overall, males were more likely to receive therapy services as well as a greater number of services than females. Autism status was significantly associated with both males and females receiving ST and males receiving OT and behaviour management therapy. Therapies were provided in a variety of locations, and parents were generally satisfied with the amount and quality of therapy services. Age-related declines were evident in the use of services for both males and females, with very few individuals receiving any therapy services after 20 years of age. This study provides a baseline description of the current state of therapy services for children with FXS, laying a foundation for future research and recommendations for service provision and policy. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.

  3. Molecular characterization of the group II chaperonin from the hyperthermophilic archaeum Pyrococcus horikoshii OT3.

    PubMed

    Okochi, Mina; Matsuzaki, Hiroki; Nomura, Tomoko; Ishii, Noriyuki; Yohda, Masafumi

    2005-04-01

    The group II chaperonin from the hyperthermophilic archaeum Pyrococcus horikoshii OT3 (PhCPN) and its functional cooperation with the cognate prefoldin were investigated. PhCPN existed as a homo-oligomer in a double-ring structure, which protected the citrate synthase of a porcine heart from thermal aggregation at 45 degrees C, and did the same on the isopropylmalate dehydrogenase (IPMDH) of a thermophilic bacterium, Thermus thermophilus HB8, at 90 degrees C. PhCPN also enhanced the refolding of green fluorescent protein (GFP), which had been unfolded by low pH, in an ATP-dependent manner. Unexpectedly, functional cooperation between PhCPN and Pyrococcus prefoldin (PhPFD) in the refolding of GFP was not observed. Instead, cooperation between PhCPN and PhPFD was observed in the refolding of IPMDH unfolded with guanidine hydrochloride. Although PhCPN alone was not effective in the refolding of IPMDH, the refolding efficiency was enhanced by the cooperation of PhCPN with PhPFD.

  4. Mastery versus the standard proficiency target for basic laparoscopic skill training: effect on skill transfer and retention.

    PubMed

    Kolozsvari, Nicoleta O; Kaneva, Pepa; Brace, Chantalle; Chartrand, Genevieve; Vaillancourt, Marilou; Cao, Jiguo; Banaszek, Daniel; Demyttenaere, Sebastian; Vassiliou, Melina C; Fried, Gerald M; Feldman, Liane S

    2011-07-01

    Little evidence exists to guide educators in the best way to implement simulation within surgical skills curricula. This study investigated whether practicing a basic Fundamentals of Laparoscopic Surgery (FLS) simulator task [peg transfer (PT)] facilitates learning a more complex skill [intracorporeal suturing (ICS)] and compared the effect of PT training to mastery with training to the passing level on PT retention and on learning ICS. For this study, 98 surgically naïve subjects were randomized to one of three PT training groups: control, standard training, and overtraining. All the participants then trained in ICS. The learning curves for ICS were analyzed by estimating the learning plateau and rate using nonlinear regression. Skill retention was assessed by retesting participants 1 month after training. The groups were compared using analysis of variance (ANOVA). Effectiveness of skill transfer was calculated using the transfer effectiveness ratio (TER). Data are presented as mean±standard deviation (p<0.05). The study was completed by 77 participants (28 control, 26 standard, and 23 overtrained subjects). The ICS learning plateau rose with increasing PT training (452±10 vs. 459±10 vs. 467±10; p<0.01). Increased PT training was associated with a trend toward higher initial ICS scores (128±107 vs. 127±110 vs. 183±106; p=0.13) and faster learning rates (15±4 vs. 14±4 vs. 13±4 trials; p=0.10). At retention, there were no differences in PT scores (p=0.5). The PT training took 20±10 min for standard training and 39±20 min for overtraining (p<0.01). Overtrained participants saved 11±5 min in ICS training compared with the control subjects (p=0.04). However, TER was 0.165 for the overtraining group and 0.160 for the standard training group, suggesting that PT overtraining took longer than the time saved on ICS training. For surgically naïve subjects, part-task training with PT alone was associated with slight improvements in the learning curve for ICS

  5. The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.

    PubMed

    Duffy, Kelly A; Deardorff, Matthew A; Kalish, Jennifer M

    2017-03-01

    Beckwith-Wiedemann syndrome (BWS) is one of the most common cancer predisposition disorders. As a result, BWS patients receive tumor screening as part of their clinical management. Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha-fetoprotein (AFP) to detect hepatoblastoma. The advancements in our understanding of the genetics and epigenetics leading to BWS has evolved over time, and has led to the development of genotype/phenotype correlations. As tumor risk appears to correlate with genetic and epigenetic causes of BWS, several groups have proposed alterations to tumor screening protocols based on the etiology of BWS, with the elimination of AFP as a screening measure and the elimination of all screening measures in BWS patients with loss of methylation at the KCNQ1OT1:TSS-DMR 2 (IC2). There are many challenges to this suggestion, as IC2 patients may have additional factors that contribute to risk of hepatoblastoma including fetal growth patterns, relationship with assisted reproductive technologies, and the regulation of the IC2 locus. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  6. OT2_smalhotr_3: Herschel Extreme Lensing Line Observations (HELLO)

    NASA Astrophysics Data System (ADS)

    Malhotra, S.

    2011-09-01

    We request 59.8 hours of Herschel time to observe 20 normal star-forming galaxies in the [CII] 158 micron and [OI] 63 micron lines. These galaxies lie at high redshift (1OT1, 49 high redshift IR luminous galaxies were approved for spectroscopy, but only two so-called normal galaxies were included. This is an imbalance that should be corrected, to balance Herschel's legacy.

  7. MASTER OT J132104.04+560957.8: A Polar with Absorption–Emission Line Reversals

    NASA Astrophysics Data System (ADS)

    Littlefield, Colin; Garnavich, Peter; Hoyt, Taylor J.; Kennedy, Mark

    2018-01-01

    We present time-resolved photometry and spectroscopy of the recently classified polar MASTER OT J132104.04+560957.8. The spectrum shows a smooth, nonthermal continuum at the time of maximum light, without any individually discernible cyclotron harmonics. Using homogenous cyclotron modeling, we interpret this as cyclotron radiation whose individual harmonics have blended together, and on this basis, we loosely constrain the magnetic-field strength to be less than ∼30 MG. In addition, for about one-tenth of the orbital period, the Balmer and He I emission lines transition into absorption features, with He II developing an absorption core. We use our observations of this phenomenon to test theoretical models of the accretion curtain and conclude that the H and He I lines are produced throughout the curtain, in contravention of theoretical predictions of separate H and He I line-forming regions. Moreover, a significant amount of He II emission originates within the accretion curtain, implying that the curtain is significantly hotter than expected from theory. Finally, we comment on the object’s long-term photometry, including evidence that it recently transitioned into a prolonged, exceptionally stable high state following a potentially decades-long low state.

  8. Impaired social cognition processes in Asperger syndrome and anorexia nervosa. In search for endophenotypes of social cognition.

    PubMed

    Kasperek-Zimowska, Beata Joanna; Zimowski, Janusz Grzegorz; Biernacka, Katarzyna; Kucharska-Pietura, Katarzyna; Rybakowski, Filip

    2016-01-01

    A growing number of publications indicates presence of significant deficits in social cognition in patients with anorexia nervosa (AN). These deficits appear to be comparable in qualitative and quantitative dimension with impairment of the same functions among people with Asperger syndrome (AS). The aim of this study is to identify subject areas in the field of impairment of social cognition processes among people with Asperger syndrome and anorexia nervosa taking into consideration the potential contribution of genetic pathways of oxytocin and vasopressin in the pathogenesis of these diseases. In the first part of the paper a systematic analysis of studies aimed at the evaluation of the processes of social cognition among patients with AN and AS has been carried out. The results of a significant number of studies confirm the presence of deficits in social cognition in AN and AS. In addition, among patients with AN and AS there exists a similar structure and distribution of the brain functions in regions responsible for social cognition. The second part of the paper describes the role of the oxytocin-vasopressin system (OT-AVP) in the processes of social cognition in AN and AS. Its genetic basis and the possible importance of single nucleotide polymorphisms within the genes: OXT, AVP, CD38, OXTR, AVPR1A and LNPEP have also been presented.

  9. Behavioral addictions: a novel challenge for psychopharmacology.

    PubMed

    Marazziti, Donatella; Presta, Silvio; Baroni, Stefano; Silvestri, Stefano; Dell'Osso, Liliana

    2014-12-01

    Although addictive syndromes have been traditionally related to substance-use disorders, during the last few decades a novel addictive group, including the so-called "behavioral or no-drug addictions," has been recognized and has attracted increasing attention for its relevant social impact. This group includes pathological gambling, compulsive shopping, TV/Internet/social network/videogame addictions, workaholism, sex and relationship addictions, orthorexia, and overtraining syndrome. Substance and behavioral addictions show similar phenomenological features, such as craving, dependence, tolerance, and abstinence, and perhaps they share a common possible pathophysiology. It is, however, controversial whether all or at least some of them should be considered real disorders or just normal, albeit extreme, behaviors. The aim of this article is to review current data on pharmacological treatment of behavioral addictions. As no specific and validated treatment algorithms are currently available, only an improved knowledge on their psychopathological, clinical, and neurobiological features may have relevant implications for more focused preventive and therapeutic strategies.

  10. Multiseasonal Tree Crown Structure Mapping with Point Clouds from OTS Quadrocopter Systems

    NASA Astrophysics Data System (ADS)

    Hese, S.; Behrendt, F.

    2017-08-01

    OTF (Off The Shelf) quadro copter systems provide a cost effective (below 2000 Euro), flexible and mobile platform for high resolution point cloud mapping. Various studies showed the full potential of these small and flexible platforms. Especially in very tight and complex 3D environments the automatic obstacle avoidance, low copter weight, long flight times and precise maneuvering are important advantages of these small OTS systems in comparison with larger octocopter systems. This study examines the potential of the DJI Phantom 4 pro series and the Phantom 3A series for within-stand and forest tree crown 3D point cloud mapping using both within stand oblique imaging in different altitude levels and data captured from a nadir perspective. On a test site in Brandenburg/Germany a beach crown was selected and measured with 3 different altitude levels in Point Of Interest (POI) mode with oblique data capturing and deriving one nadir mosaic created with 85/85 % overlap using Drone Deploy automatic mapping software. Three different flight campaigns were performed, one in September 2016 (leaf-on), one in March 2017 (leaf-off) and one in May 2017 (leaf-on) to derive point clouds from different crown structure and phenological situations - covering the leaf-on and leafoff status of the tree crown. After height correction, the point clouds where used with GPS geo referencing to calculate voxel based densities on 50 × 10 × 10 cm voxel definitions using a topological network of chessboard image objects in 0,5 m height steps in an object based image processing environment. Comparison between leaf-off and leaf-on status was done on volume pixel definitions comparing the attributed point densities per volume and plotting the resulting values as a function of distance to the crown center. In the leaf-off status SFM (structure from motion) algorithms clearly identified the central stem and also secondary branch systems. While the

  11. Rotational reorientation dynamics of Aerosol-OT reverse micelles formed in near-critical propane

    SciTech Connect

    Heitz, M.P.; Bright, F.V.

    1996-06-01

    The rotational reorientation kinetics of two fluorescent solutes (rhodamine 6G, R6G, and rhodamine 101, R101) have been determined in sodium bis(2-ethylhexyl) sulfosuccinate (Aerosol-OT, AOT) reverse micelles formed in liquid and near-critical propane. We show that the amount of water loading ([water]/[AOT], R), continuous phase density, and temperature all influence the solute rotational dynamics. In all cases, the decay of anisotropy data (i.e., frequency-dependent differential polarized phase angle and polarized modulation ratio) are well described by a bi-exponential decay law. We find that the faster rotational correlation times are similar to but slightly less than the values predicted for an individualmore » AOT reverse micelle rotating in propane. The recovered rotational correlation times range from 200 to 500 ps depending on experimental conditions. This faster rotational process is explained in terms of lateral diffusion of the fluorophore along the water/headgroup interfacial region within the reverse micelle. The recovered values for the slower rotational correlation times range from 7 to 18 ns. These larger rotational reorientation times are assigned to varying micelle-micelle (i.e., tail-tail) interactions in the low-density, highly compressible fluid region. We also quantify the contribution of the reverse micellar {open_quotes}aggregate{close_quotes} to the total decay of anisotropy. {copyright} {ital 1996} {ital Society for Applied Spectroscopy}« less

  12. Understanding Bartter syndrome and Gitelman syndrome.

    PubMed

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  13. Advanced Subspace Techniques for Modeling Channel and Session Variability in a Speaker Recognition System

    DTIC Science & Technology

    2012-03-01

    with each SVM discriminating between a pair of the N total speakers in the data set. The (( + 1))/2 classifiers then vote on the final...classification of a test sample. The Random Forest classifier is an ensemble classifier that votes amongst decision trees generated with each node using...Forest vote , and the effects of overtraining will be mitigated by the fact that each decision tree is overtrained differently (due to the random

  14. Crystallization and preliminary X-ray analysis of PH1566, a putative ribosomal RNA-processing factor from the hyperthermophilic archaeon Pyrococcus horikoshii OT3

    PubMed Central

    Jia, Min Ze; Ohtsuka, Jun; Lee, Woo Cheol; Nagata, Koji; Tanokura, Masaru

    2006-01-01

    A putative ribosomal RNA-processing factor consisting of two KH domains from Pyrococcus horikoshii OT3 (PH1566; 25 kDa) was crystallized by the sitting-drop vapour-diffusion method using PEG 3000 as the precipitant. The crystals diffracted X-rays to beyond 2.0 Å resolution using a synchrotron-radiation source. The space group of the crystals was determined as primitive orthorhombic P212121, with unit-cell parameters a = 45.9, b = 47.4, c = 95.7 Å. The crystals contain one molecule in the asymmetric unit (V M = 2.5 Å3 Da−1) and have a solvent content of 50%. PMID:16511260

  15. Physical activity and mental health: the association between exercise and mood.

    PubMed

    Peluso, Marco Aurélio Monteiro; Guerra de Andrade, Laura Helena Silveira

    2005-02-01

    Physical activity is an important public health tool used in the treatment and prevention of various physical diseases, as well as in the treatment of some psychiatric diseases such as depressive and anxiety disorders. However, studies have shown that in addition to its beneficial effects, physical activity can also be associated with impaired mental health, being related to disturbances like "excessive exercise" and "overtraining syndrome". Although the number of reports of the effects of physical activity on mental health is steadily increasing, these studies have not yet identified the mechanisms involved in the benefits and dangers to mental health associated with exercise. This article reviews the information available regarding the relationship between physical activity and mental health, specifically addressing the association between exercise and mood.

  16. OT2_jcernich_9: Time Variability of Thermal Molecular Line Emission in IRC+10216

    NASA Astrophysics Data System (ADS)

    Cernicharo, J.

    2011-09-01

    We have found during our GT line survey of IRC+10216 and the search for hydrides (OT1 proposal) that some molecular lines present a strong intensity variation with time due to the role of infrared pumping. For some lines the intensity change in six months reaches a factor 3 (CCH). We have checked that the effect is not instrumental and than it arises from physical processes ignored so far in the radiative transfer models. We propose to observe the CCH and HNC lines within bands 1a-5b of HIFI every four months (three observing slots) to allow a detailed study of the variation of thermal molecular emission, and dust emission, in this prototype of AGB C-rich object. The settings will also provide, as a bonus, many lines of SiO, SiS, CS, HCN, CO and 13CO for which intensity variations of up to 30% have been found. In addition, a few specificc settings for HCN and CO will complete the observations. SPIRE and PACS observations will complement, with lower spectral resolution, the whole spectrum of each of these molecules and will provide a global view of the total intensity change of these lines with time. A crude estimate of the distance could be also obtained from the observed time lags between the blue and red parts of the line profiles observed with HIFI.

  17. Pressure effects on enzyme reactions in mainly organic media: alpha-chymotrypsin in reversed micelles of Aerosol OT in octane.

    PubMed

    Mozhaev, V V; Bec, N; Balny, C

    1994-08-01

    Biocatalytic transformations in reversed micelles formed by anionic surfactant Aerosol OT in octane have been studied at high pressures by an example of alpha-chymotrypsin-catalyzed hydrolysis of N-carbobenzoxy-L-tyrosine p-nitrophenyl ester and N-succinyl-L-phenylalanine p-nitroanilide. For the first time it has been found that the enzyme retains high activity in these water-in-oil microemulsions up to a pressure of 2 kbar. The value of the activation volume (delta V*) for the enzyme reactions shows a dependence on the water content in the system. When the size of the micellar aqueous inner cavity (as evaluated at 1 atm) approaches the molecular size of alpha-chymotrypsin, delta V* becomes significantly different from the value in aqueous solution and in the micelles with a larger size. Possibilities of regulating the enzyme activity by pressure in systems with a low content of water are discussed.

  18. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    PubMed

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  19. The metabolic syndrome in polycystic ovary syndrome.

    PubMed

    Essah, P A; Nestler, J E

    2006-03-01

    Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

  20. Triggering Avoidance: Dissociable Influences of Aversive Pavlovian Conditioned Stimuli on Human Instrumental Behavior.

    PubMed

    Garofalo, Sara; Robbins, Trevor W

    2017-01-01

    The present study investigates human aversive Pavlovian-to-Instrumental Transfer (PIT) and possible influences of outcome devaluation and instrumental overtraining on this effect. PIT measures the extent to which a Pavlovian conditioned stimulus (CS) can increase instrumental responses independently paired with the same (outcome-specific transfer) or a different (general transfer) reinforcer. Two measures of PIT were obtained: the percentage of instrumental responses and the vigor of such responses. Thirty-eight volunteers performed a standard PIT task sequence. Results showed a double dissociation between outcome-specific and general transfer: the first selectively expressed in the amount of responses, the second in the vigor measure solely. Furthermore, outcome-specific transfer was enhanced by overtraining, but not affected by devaluation. General transfer, on the other hand, was affected by neither overtraining, nor devaluation. A positive correlation between general transfer and sensitivity to punishments was found. Findings are discussed in terms of hypothetically different underlying neurobehavioral mechanisms and their relations to habits and goal-directed behavior.

  1. Orthostatic Tremor: An Update on a Rare Entity

    PubMed Central

    Benito-León, Julián; Domingo-Santos, Ángela

    2016-01-01

    Background Orthostatic tremor (OT) remains among the most intriguing and poorly understood of movement disorders. Compared to Parkinson’s disease or even essential tremor, there are very few articles addressing more basic science issues. In this review, we will discuss the findings of main case series on OT, including data on etiology, pathophysiology, diagnostic approach, treatment strategies, and outcome. Methods Data for this review were identified by searching PUBMED (January 1966 to August 2016) for the terms “orthostatic tremor” or “shaky leg syndrome,” which yielded 219 entries. We did not exclude papers on the basis of language, country, or publication date. The electronic database searches were supplemented by articles in the authors’ files that pertained to this topic. Results Owing to its rarity, the current understanding of OT is limited and is mostly based on small case series or case reports. Despite this, a growing body of evidence indicates that OT might be a progressive condition that is clinically heterogeneous (primary vs. secondary cases) with a broader spectrum of clinical features, mainly cerebellar signs, and possible cognitive impairment and personality disturbances. Along with this, advanced neuroimaging techniques are now demonstrating distinct anatomical and functional changes, some of which are consistent with neuronal loss. Discussion OT might be a family of diseases, unified by the presence of leg tremor, but further characterized by etiological and clinical heterogeneity. More work is needed to understand the pathogenesis of this condition. PMID:27713855

  2. A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

    PubMed Central

    KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

    2014-01-01

    Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

  3. Duane Syndrome

    MedlinePlus

    ... is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), is a congenital and non-progressive ... Is Duane syndrome congenital (present from birth)? Duane retraction syndrome is present from birth, even if it ...

  4. [The psychological factors affecting athletic performance].

    PubMed

    Resch, Mária

    2010-05-16

    The physical and mental health complex is claimed as achievement of the XXI. century, whereby also among the sportsmen and sportswomen, beside the somatic medicine, growing attention is devoted to the psyche as well. The sports psychiatry was dragged in and put into service to enhance performance after all biological weapons run out of ammunition, and the long-awaited results still failed to come about. Moreover, despite the energy increasingly invested it was going from bad to worse. Among athletes many psychiatric disorders call attention, either by the high prevalence or by the development of a specific syndrome. Symptoms of depression (depression after the competition, depression following the failure at the competition), chronic stress, anxiety, fatigue syndrome of overtraining, enervation, sleep disturbances, eating problems, burnout, eating disorders (anorexia athletics, athlete triad), personality factors and the chemical addiction are all extremely important. The present study is the first to summarize the most crucial psychiatric disorders that may have great significance in the athlete population, in varying degrees according to the individual sports.

  5. Ocular toxoplasmosis: adverse reactions to treatment in a Brazilian cohort.

    PubMed

    Guaraldo, Lusiele; Villar, Bianca Balzano de la Fuente; Durão, Nicolle Marins Gomes; Louro, Virgínia Clare; Quintana, Marcel de Souza Borges; Curi, André Luiz Land; Neves, Elizabeth Souza

    2018-05-19

    The purpose of this study was to estimate the frequency and describe the adverse drug reactions (ADRs) associated with the classic treatment of ocular toxoplasmosis (OT), namely sulfadiazine, pyrimethamine, corticosteroids and folinic acid. We performed a descriptive study of a prospective cohort of patients with OT treated with the classic therapy. Data were collected during medical consultations and treatment. Of the 147 patients studied, 85% developed one or more ADR. Women presented more ADRs than men (95% vs 77%). Of the total reactions (n=394), 82% were mild, but we found one life-threatening event (Stevens-Johnson syndrome). The most frequent types (71%) of ADRs were gastrointestinal, skin and neurological or psychiatric. The majority of ADRs (90.3%) occurred before the second week of treatment. A third of the patients were treated for the ADR and 10% dropped out of OT treatment. Most (70%) of the ADRs were characterized as being probably caused by the drugs and may be associated with prednisone, sulfadiazine and sulfadiazine/prednisone. Six percent of ADRs were not previously described, such as taste alteration, constipation/bloating, dyspnoea, sweating and somnolence. Our results suggest a high rate of ADRs to OT classic treatment, which requires careful follow-up in order to identify and treat ADRs early.

  6. A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.

    PubMed

    Schaller, Fabienne; Watrin, Françoise; Sturny, Rachel; Massacrier, Annick; Szepetowski, Pierre; Muscatelli, Françoise

    2010-12-15

    The onset of feeding at birth is a vital step for the adaptation of the neonate to extra uterine life. Prader-Willi syndrome (PWS) is a complex neurogenetic disorder caused by the alteration of several imprinted contiguous genes including MAGEL2. PWS presents with various clinical manifestations, including poor suckling behaviour and feeding problems in neonates. Hypothalamic defects have been proposed, but the pathophysiological mechanisms remain poorly understood. Here, we report that a Magel2-deficient mouse with 50% neonatal mortality had an altered onset of suckling activity and subsequent impaired feeding, suggesting a role of MAGEL2 in the suckling deficit seen in PW newborns. The hypothalamus of Magel2 mutant neonates showed a significant reduction in oxytocin (OT). Furthermore, injection of a specific OT receptor antagonist in wild-type neonates recapitulated the feeding deficiency seen in Magel2 mutants, and a single injection of OT, 3-5 h after birth, rescued the phenotype of Magel2 mutant pups, allowing all of them to survive. Our study illustrates the crucial role of feeding onset behaviour after birth. We propose that OT supply might constitute a promising avenue for the treatment of feeding difficulties in PW neonates and potentially of other newborns with impaired feeding onset.

  7. Seckel syndrome: an overdiagnosed syndrome.

    PubMed Central

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

  8. Secondary Metabolite Profiling of Species of the Genus Usnea by UHPLC-ESI-OT-MS-MS.

    PubMed

    Salgado, Francisco; Albornoz, Laura; Cortéz, Carmen; Stashenko, Elena; Urrea-Vallejo, Kelly; Nagles, Edgar; Galicia-Virviescas, Cesar; Cornejo, Alberto; Ardiles, Alejandro; Simirgiotis, Mario; García-Beltrán, Olimpo; Areche, Carlos

    2017-12-27

    Lichens are symbiotic associations of fungi with microalgae and/or cyanobacteria, which are considered among the slowest growing organisms, with strong tolerance to adverse environmental conditions. There are about 400 genera and 1600 species of lichens and those belonging to the Usnea genus comprise about 360 of these species. Usnea lichens have been used since ancient times as dyes, cosmetics, preservatives, deodorants and folk medicines. The phytochemistry of the Usnea genus includes more than 60 compounds which belong to the following classes: depsides, depsidones, depsones, lactones, quinones, phenolics, polysaccharides, fatty acids and dibenzofurans. Due to scarce knowledge of metabolomic profiles of Usnea species ( U. barbata , U. antarctica , U. rubicunda and U. subfloridana ), a study based on UHPLC-ESI-OT-MS-MS was performed for a comprehensive characterization of their secondary metabolites. From the methanolic extracts of these species a total of 73 metabolites were identified for the first time using this hyphenated technique, including 34 compounds in U. barbata , 21 in U. antarctica , 38 in U. rubicunda and 37 in U. subfloridana . Besides, a total of 13 metabolites were not identified and reported so far, and could be new according to our data analysis. This study showed that this hyphenated technique is rapid, effective and accurate for phytochemical identification of lichen metabolites and the data collected could be useful for chemotaxonomic studies.

  9. Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

    PubMed

    Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

  10. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    PubMed

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  11. Wells syndrome and its relationship to Churg-Strauss syndrome.

    PubMed

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  12. Kindler syndrome.

    PubMed

    Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

    2005-01-01

    Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  13. "Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

    PubMed

    D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

    2011-01-01

    Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.

  14. Fanconi syndrome

    MedlinePlus

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  15. Ocular toxocariasis: clinical features, diagnosis, treatment, and prevention

    PubMed Central

    Ahn, Seong Joon; Ryoo, Na-Kyung

    2014-01-01

    Despite being one of the most common zoonotic infections worldwide, human toxocariasis has been one of the neglected tropical diseases. Although most human infections are asymptomatic, two main syndromes of human toxocariasis are classically recognized: systemic toxocariasis, which encompasses diseases in major organs; and ocular toxocariasis (OT), disease in the eye or optic nerve, caused by the migration of Toxocara larvae into the eye. OT is usually a unilateral disease, which typically presents as retinal granuloma, a yellowish or whitish inflammatory mass, in the posterior pole or peripheral retina. Granuloma itself or other comorbid conditions such as epiretinal membrane, macular edema, and retinal detachment can lead to permanent retinal damage and visual loss in eyes with OT. OT is diagnosed clinically by identification of clinical signs on ophthalmologic examination. Serological tests, such as enzyme-linked immunosorbent assay (ELISA) for detection of serum antibody against the Toxocara larvae, can confirm the diagnosis. In addition, serum immunoglobulin E and detection of ocular fluid antitoxocara antibody by ELISA may give additional aid to the diagnosis. Standard treatment of OT is corticosteroid in patients with active intraocular inflammation. Although the role of anthelmintic therapy is unclear, favorable outcome has been reported by combined corticosteroid and albendazole therapy in eyes with active inflammation. Prevention, by increasing public awareness and reducing the risk of infection, is also important. Recently, the association between ingestion of uncooked meat or liver and toxocariasis was reported, especially in adult patients. Future research on the potential source of infection, diagnosis, and treatment should be performed. PMID:25097848

  16. [Kenny-Caffey syndrome and its related syndromes].

    PubMed

    Isojima, Tsuyoshi; Kitanaka, Sachiko

    2015-11-01

    Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. These two diseases can be called as KCS-related syndromes. In this article, we review the clinical manifestations of KCS and discuss its related syndromes.

  17. Metabolic syndrome and polycystic ovary syndrome: an intriguing overlapping.

    PubMed

    Caserta, Donatella; Adducchio, Gloria; Picchia, Simona; Ralli, Eleonora; Matteucci, Eleonora; Moscarini, Massimo

    2014-06-01

    Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment.

  18. West syndrome in a patient with Schinzel-Giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

  19. Kindler syndrome.

    PubMed

    Lai-Cheong, Joey E; McGrath, John A

    2010-01-01

    Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.

  20. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

    PubMed Central

    2016-01-01

    Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35–42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome. There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. Educational aims To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS). To examine the prevalence of OSAHS in adults with Down syndrome. To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2–4% of the general adult population. The “double-hit” of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour

  1. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.

    PubMed

    Hill, Elizabeth A

    2016-12-01

    Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2-4% of the general adult population. The "double-hit" of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely

  2. When is a failure to replicate not a type II error?

    PubMed

    Vasconcelos, Marco; Urcuioli, Peter J; Lionello-DeNolf, Karen M

    2007-05-01

    Zentall and Singer (2007) challenge our conclusion that the work-ethic effect reported by Clement, Feltus, Kaiser, and Zentall (2000) may have been a Type I error by arguing that (a) the effect has been extensively replicated and (b) the amount of overtraining our pigeons received may not have been sufficient to produce it. We believe that our conclusion is warranted because (a) the original effect has not been replicated despite multiple attempts to do so and (b) the statement that more extended overtraining may be needed itself suggests that the original effect is not reliable.

  3. When Is a Failure to Replicate Not a Type II Error?

    PubMed Central

    Vasconcelos, Marco; Urcuioli, Peter J; Lionello-DeNolf, Karen M

    2007-01-01

    Zentall and Singer (2007) challenge our conclusion that the work-ethic effect reported by Clement, Feltus, Kaiser, and Zentall (2000) may have been a Type I error by arguing that (a) the effect has been extensively replicated and (b) the amount of overtraining our pigeons received may not have been sufficient to produce it. We believe that our conclusion is warranted because (a) the original effect has not been replicated despite multiple attempts to do so and (b) the statement that more extended overtraining may be needed itself suggests that the original effect is not reliable. PMID:17575905

  4. Cushing syndrome

    MedlinePlus

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  5. Characterization of the archaeal ribonuclease P proteins from Pyrococcus horikoshii OT3.

    PubMed

    Terada, Atsushi; Honda, Takashi; Fukuhara, Hideo; Hada, Kazumasa; Kimura, Makoto

    2006-08-01

    Ribonuclease P (RNase P) is a ribonucleoprotein complex involved in the processing of the 5'-leader sequence of precursor tRNA (pre-tRNA). Our earlier study revealed that RNase P RNA (pRNA) and five proteins (PhoPop5, PhoRpp38, PhoRpp21, PhoRpp29, and PhoRpp30) in the hyperthermophilic archaeon Pyrococcus horikoshii OT3 reconstituted RNase P activity that exhibits enzymatic properties like those of the authentic enzyme. In present study, we investigated involvement of the individual proteins in RNase P activity. Two particles (R-3Ps), in which pRNA was mixed with three proteins, PhoPop5, PhoRpp30, and PhoRpp38 or PhoPop5, PhoRpp30, and PhoRpp21 showed a detectable RNase P activity, and five reconstituted particles (R-4Ps) composed of pRNA and four proteins exhibited RNase P activity, albeit at reduced level compared to that of the reconstituted particle (R-5P) composed of pRNA and five proteins. Time-course analysis of the RNase P activities of R-4Ps indicated that the R-4Ps lacking PhoPop5, PhoRpp21, or PhoRpp30 had virtually reduced activity, while omission of PhoRpp29 or PhoRpp38 had a slight effect on the activity. The results indicate that the proteins contribute to RNase P activity in order of PhoPop5 > PhoRpp30 > PhoRpp21 > PhoRpp29 > PhoRpp38. It was further found that R-4Ps showed a characteristic Mg2+ ion dependency approximately identical to that of R-5P. However, R-4Ps had optimum temperature of around at 55 degrees C which is lower than 70 degrees C for R-5P. Together, it is suggested that the P. horikoshii RNase P proteins are predominantly involved in optimization of the pRNA conformation, though they are individually dispensable for RNase P activity in vitro.

  6. [Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

    PubMed

    Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

    2014-01-01

    Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  7. LEOPARD syndrome

    MedlinePlus

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  8. Irritable Bowel Syndrome

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Irritable Bowel Syndrome KidsHealth / For Teens / Irritable Bowel Syndrome What's in ... intestinal disorder called irritable bowel syndrome. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a common intestinal ...

  9. Superfund record of decision (EPA Region 3): Dover Air Force Base, Oil/Water Separator at Building 918 (Site ot 40), Kent County, DE, March 28, 1995

    SciTech Connect

    NONE

    1996-02-01

    The Record of Decision presents the selected remedial action for the Oil/Water separator at Building 918 Operable Unit (Site OT 40). There are hazardous substances present in the shallow groundwater at levels below those that would cause risk. Additionally, arsenic and lead exist in soils at levels within regional background levels. The site poses a minimal risk to public health, welfare, and the environment. The No Action alternative requires no actions be taken at the site. This alternative serves as a baseline for comparison and CERCLA requires it be evaluated. It is the preferred alternative at this site because themore » other alternatives offer no substantial advantages.« less

  10. A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

    PubMed

    Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

    2014-07-01

    To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

  11. Aarskog syndrome

    MedlinePlus

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  12. Malabsorption Syndromes

    MedlinePlus

    ... foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. ...

  13. [XYY syndrome (diplo-Y syndrome)].

    PubMed

    Braun-Scharm, H; Schroeder-Kurth, T M

    1986-01-01

    A case is reported of a 12-year-old boy with the XYY syndrome and unusual clinical symptoms. In addition, past research on the XYY syndrome and the current state of knowledge is reviewed, with special emphasis on psychopathology, psychiatry and genetic counseling.

  14. Polycystic ovary syndrome and metabolic syndrome.

    PubMed

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  15. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    PubMed

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  16. Williams syndrome

    MedlinePlus

    ... with Williams syndrome may show: A flattened nasal bridge with small upturned nose Long ridges in the ... Alternative Names Williams-Beuren syndrome Images Low nasal bridge Chromosomes and DNA References Morris CA. Williams syndrome. ...

  17. Exogenous Cushing syndrome

    MedlinePlus

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  18. Targets to treat metabolic syndrome in polycystic ovary syndrome

    PubMed Central

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2016-01-01

    Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

  19. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    PubMed

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  20. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  1. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

    ERIC Educational Resources Information Center

    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  2. Obesity Hypoventilation Syndrome

    MedlinePlus

    ... Home / < Back To Health Topics / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  3. Loeys-Dietz Syndrome

    MedlinePlus

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  4. Exhaustive submaximal endurance and resistance exercises induce temporary immunosuppression via physical and oxidative stress

    PubMed Central

    Jin, Chan-Ho; Paik, Il-Young; Kwak, Yi-Sub; Jee, Yong-Seok; Kim, Joo-Young

    2015-01-01

    Regular running and strength training are the best ways to improve aerobic capacity and develop the size of skeletal muscles. However, uncontrolled physical activities can often lead to an undertraining or over-training syndrome. In particular, overtraining causes persistent fatigue and reduces physical performance due to changes in the various physiological and immunological factors. In this study, we gave an exhaustive submaximal endurance or resistance exercise to participants and investigated the relationship between physical stress (cortisol level in blood), oxidative stress (intracellular ROS accumulation), and adaptive immune response (CD4:CD8 ratio). Materials and Methods Ten male volunteers were recruited, and performed a submaximal endurance or resistance exercise with 85% of VO2max or 1-repetition maximum until exhaustion. Blood samples were collected at rest, and at 0 and 30 min after the exercise. Cortisol levels, oxidative stress, and immune cell phenotypes in peripheral blood were evaluated. Cortisol levels in the sera increased after the exhaustive endurance and resistance exercises and such increments were maintained through the recovery. Intra-cellular ROS levels also increased after the exhaustive endurance and resistance exercises. The ratio of CD4+ T cells to CD8+ T cells after each type of submaximal exercise decreased compared with that at the resting stage, and returned to the resting level at 30 min after the exercise. In this study, an exhaustive endurance or a resistance exercise with submaximal intensity caused excessive physical stress, intra-cellular oxidative stress, and post-exercise immunosuppression. This result suggests that excessive physical stress induced temporary immune dysfunction via physical and oxidative stress. PMID:26331134

  5. Refeeding syndrome.

    PubMed

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  6. Pre-Menstrual Syndrome in Women with Down Syndrome

    ERIC Educational Resources Information Center

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  7. Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome

    DTIC Science & Technology

    2016-09-01

    Syndrome of the Acute Radiation Syndrome PRINCIPAL...SUBTITLE 5a. CONTRACT NUMBER Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome 5b. GRANT NUMBER W81XWH-15...protective role against hematopoietic syndrome of the acute radiation syndrome (H-ARS) and is able to attenuate the effect of residual bone marrow

  8. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  9. Ehlers-Danlos Syndrome

    MedlinePlus

    ... Danlos syndrome care at Mayo Clinic Symptoms Classic Ehlers-Danlos syndrome Signs and symptoms of the most common form ... but few or none of the skin symptoms. Ehlers-Danlos syndrome, vascular type People who have Ehlers-Danlos syndrome, ...

  10. The short arm deletion syndrome of chromosome 4 (4p- syndrome).

    PubMed

    Zellweger, H; Bardach, J; Bordwell, J; Williams, K

    1975-01-01

    Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

  11. Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

    PubMed

    Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

    2008-04-01

    We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

  12. Down Syndrome

    MedlinePlus

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  13. TAFRO Syndrome.

    PubMed

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Development and characteristics of children with Usher syndrome and CHARGE syndrome.

    PubMed

    Dammeyer, Jesper

    2012-09-01

    Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  15. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

    PubMed

    Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

    2017-01-01

    An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

  16. [Poland's syndrome].

    PubMed

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  17. [Gardner syndrome--parent alienation syndrome (PAS). Diagnosis or family reality?].

    PubMed

    Namysłowska, Irena; Heitzman, Janusz; Siewierska, Anna

    2009-01-01

    The authors present characteristics of Parental Alienation Syndrome (PAS) proposed by Gardner as well as data, which may help to differentiate that syndrome with real psychological, physical and sexual abuse. The consequences of Gardner Syndrome for legal decisions in the court cases of child custody and the critique of this syndrome in forensic and psychiatric literature are also discussed, and several questions posed. Authors propose to treat Gardner Syndrome not as as a child disorder but as a specific, dynamic family situation, which occurs sometimes, during divorce and fight about child custody.

  18. Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome

    DTIC Science & Technology

    2017-05-01

    AWARD NUMBER: W81XWH-15-1-0207 TITLE: “Protective Role of Angiogenin Against Hematopoietic Syndrome of the Acute Radiation Syndrome ...SUBTITLE Protective Role of Angiogenin Against Hematopoietic Syndrome 5a. CONTRACT NUMBER of the Acute Radiation Syndrome 5b. GRANT NUMBER 5c...hematopoietic syndrome of the acute radiation syndrome (H-ARS) and is able to attenuate the effect of residual bone marrow damage (RBMD) after

  19. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  20. Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

    SciTech Connect

    Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.

    1994-11-01

    The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newbornmore » infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.« less

  1. Marfan Syndrome (For Teens)

    MedlinePlus

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  2. Swyer-James syndrome associated with Noonan syndrome: report of a case.

    PubMed

    Lin, Y M; Huang, W L; Hwang, J J; Ko, Y L; Lien, W P

    1995-12-01

    A 28-year-old man with Noonan syndrome associated with unilateral hyperlucent lung is reported. He had the typical craniofacial appearance and short stature of Noonan syndrome; he had mild mental retardation, atrophic testis, mild funnel chest and kyphosis. cardiovascular abnormalities included asymmetric hypertrophic cardiomyopathy and a significantly different caliber of the left and right pulmonary arteries. The unilateral hyperlucent lung was shown to result from acquired nondestructive emphysema caused by nonvalvular obstruction of the bronchi (Swyer-James syndrome or Macleod's syndrome). To the authors' knowledge, this is the first reported case of Noonan syndrome associated with Swyer-James syndrome.

  3. Divorce in families of children with Down Syndrome or Rett Syndrome.

    PubMed

    Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

    2015-05-01

    This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

  4. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. © 2015 Elsevier B.V. All rights reserved.

  5. Gorlin-goltz syndrome.

    PubMed

    Pandeshwar, Padma; Jayanthi, K; Mahesh, D

    2012-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  6. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  8. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  9. The subgingival microbiota of Papillon-Lefèvre syndrome.

    PubMed

    Albandar, Jasim M; Khattab, Razan; Monem, Fawza; Barbuto, Sara M; Paster, Bruce J

    2012-07-01

    There is little information about the microbiologic profiles of periodontal lesions in Papillon-Lefèvre syndrome (PLS) and the significance of bacteria in the pathogenesis of periodontitis in these patients. This comprehensive analysis of the subgingival microbiota in patients with PLS used 16S ribosomal RNA (rRNA) clonal analysis and the 16S rRNA-based Human Oral Microbe Identification Microarray (HOMIM). Thirteen patients with PLS from seven unrelated families volunteered for this microbiologic study. Subgingival plaque was collected with sterile paper points from multiple sites with ≥5 mm probing depth, and whole genomic DNA was extracted. The 16S rRNA genes were amplified, cloned, and sequenced. The samples were then probed for ≈300 predominant oral bacterial species using the HOMIM. The most commonly detected phylotypes in the clonal analysis were Gemella morbillorum, Gemella haemolysans, Granulicatella adiacens, Lachnospiraceae OT 100 (EI074), Parvimonas micra, Selenomonas noxia, and Veillonella parvula. As a group, streptococci were commonly detected in these individuals. In the HOMIM analysis, a total of 170 bacterial species/phylotypes were detected, with a range of 40 to 80 species per patient with PLS. Of these, 12 bacterial species were detected in medium to high levels in ≥50% of the individuals. The high-frequency strains were clustered into eight groups: Aggregatibacter actinomycetemcomitans, Campylobacter spp., Capnocytophaga granulosa, G. morbillorum, P. micra, Porphyromonas endodontalis, Streptococcus spp., and Tannerella forsythia. The subgingival microbiota in PLS is diverse. Periodontal pathogens commonly associated with chronic and aggressive periodontitis and opportunistic pathogens may be associated with the development of severe periodontitis in patients with PLS.

  10. [Münchhausen syndrome].

    PubMed

    Robert, J C; Cremniter, D; Lejonc, J L

    1991-04-20

    Münchhausen's syndrome is characterized by fictitious illnesses associated with hospital peregrination, pseudologia fantastica with a mythomanic discourse that includes strongly structured medical elements, passivity and dependance at examinations, and aggressiveness. The whole picture is so typical that the syndrome can easily be recognized. Cases of Münchhausen's syndrome by proxy (Meadow's syndrome) have been reported during the last few years; the condition concerns children suffering from diseases which are entirely due to their parents and can be compared with the battered child syndrome. In terms of nosology, among pathomimias Münchhausen's syndrome figures as a borderline state. Since it is impossible to establish positive relations with these patients, treatment fails in almost every case.

  11. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  12. The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

    PubMed Central

    Phelan, K.; McDermid, H.E.

    2012-01-01

    The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50% of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been documented. Most are terminal deletions of ∼100 kb to >9 Mb, resulting from simple deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture experiments show that SHANK3 is involved in the structure and function of synapses and support the hypothesis that the majority of 22q13.3 deletion syndrome neurological defects are due to haploinsufficiency of SHANK3, although other genes in the region may also play a role in the syndrome. The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors. PMID:22670140

  13. Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

    PubMed

    Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

    2017-06-01

    Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

  14. Neuroligins Provide Molecular Links Between Syndromic and Non-Syndromic Autism

    PubMed Central

    Singh, Sandeep K.; Eroglu, Cagla

    2014-01-01

    Autism is a common and heritable neuropsychiatric disorder that can be categorized into two types: syndromic and non-syndromic, the former of which are associated with other neurological disorders or syndromes. Molecular and functional links between syndromic and non-syndromic autism genes were lacking until studies aimed at understanding role of trans-synaptic adhesion molecule neuroligin, which is associated with non-syndromic autism, provided important connections. Here, we integrate data from these studies into a model of how neuroligin functions to control synaptic connectivity in the central nervous system and how neuroligin dysfunction may participate in the pathophysiology of autism. Understanding the complex functional interactions between neuroligins and other autism-associated proteins at the synapse is crucial to understand the pathology of autism. This understanding might bring us closer to development of therapeutic approaches for autism. PMID:23838185

  15. [Prevalence of metabolic syndrome components in patients with acute coronary syndromes].

    PubMed

    Zaliūnas, Remigijus; Slapikas, Rimvydas; Luksiene, Dalia; Slapikiene, Birute; Statkeviciene, Audrone; Milvidaite, Irena; Gustiene, Olivija

    2008-01-01

    Many studies report that the components of the metabolic syndrome--arterial hypertension, abdominal obesity, diabetes mellitus, and atherogenic dyslipidemia--are associated with an increased risk of cardiovascular disease. We investigated the prevalence of different components of the metabolic syndrome and frequency of their combinations and acute hyperglycemia among patients with acute coronary syndromes. The study population consisted of 2756 patients (1670 men and 1086 women with a mean age of 63.3+/-11.3 years) with acute coronary syndromes: Q-wave myocardial infarction was present in 41.8% of patients; non-Q-wave MI, in 30.7%; and unstable angina pectoris, in 27.5%. The metabolic syndrome was found in 59.6% of the patients according to modified NCEP III guidelines. One component of the metabolic syndrome was found in 13.5% of patients; two, in 23.0%; and none, in 3.9%. Less than one-third (29.2%) of the patients had three components of the metabolic syndrome, and 30.4% of the patients had four or five components. Arterial hypertension and abdominal obesity were the most common components of the metabolic syndrome (82.2% and 65.8%, respectively). Nearly half of the patients had hypertriglyceridemia and decreased level of high-density lipoprotein cholesterol (55.0% and 51.1%, respectively), and 23.9% of patients had diabetes mellitus. Acute hyperglycemia (> or =6.1 mmol/L) without known diabetes mellitus was found in 38.1% of cases. The combination of arterial hypertension and abdominal obesity was reported in 57.8% of patients in the case of combinations of two-five metabolic syndrome components. More than half of patients with acute coronary syndromes had three or more components of the metabolic syndrome, and arterial hypertension and abdominal obesity were the most prevalent components of the metabolic syndrome.

  16. Are Numerical Impairments Syndrome Specific? Evidence from Williams Syndrome and Down's Syndrome

    ERIC Educational Resources Information Center

    Paterson, Sarah J.; Girelli, Luisa; Butterworth, Brian; Karmiloff-Smith, Annette

    2006-01-01

    Background: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five…

  17. Reye syndrome - resources

    MedlinePlus

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  18. Toxic shock syndrome

    MedlinePlus

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  19. Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

    PubMed

    Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

    2014-01-01

    Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

  20. Management of moyamoya syndrome in patients with Noonan syndrome.

    PubMed

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Polycystic ovary syndrome and metabolic syndrome: the worrisome twosome?

    PubMed

    Shah, D; Rasool, S

    2016-01-01

    By virtue of insulin resistance being the common etiology for polycystic ovary syndrome (PCOS) and metabolic syndrome, the cardiometabolic risks of these two syndromes are shared. The usual concerns of a PCOS patient are cosmetic or reproductive. However, there are more serious concerns past the reproductive age. Early treatment of insulin resistance, hypertension and hyperlipidemia reduces the long-term risk. This review highlights the unhealthy association of metabolic syndrome with PCOS and emphasizes the importance of early diagnosis, patient education and long-term follow-up beyond the reproductive age into menopause to prevent the long-term serious co-morbidities.

  2. Fat embolism syndrome.

    PubMed

    Stein, Paul D; Yaekoub, Abdo Y; Matta, Fadi; Kleerekoper, Michael

    2008-12-01

    To assess the incidence and risk factors for fat embolism syndrome. Data from the National Hospital Discharge Survey (NHDS) were analyzed using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes. From 1979 through 2005 among 928,324,000 patients discharged from short-stay hospitals in the United States, 41,000 (0.004%) had fat embolism syndrome. Among 21,538,000 patients with an isolated fracture of the femur (any site), tibia, fibula, pelvis, ribs, humerus, radius, or ulna, 25,000 (0.12%) developed fat embolism syndrome. Patients with multiple fractures of the femur (excluding neck) more often had fat embolism syndrome than those with isolated fractures (1.29% versus 0.54%). The incidence of fat embolism syndrome was lower with isolated fractures of the tibia or fibula (0.30%) and even lower with isolated fractures of the neck of the femur (0.06%). The incidence of fat embolism was too low to calculate with isolated fractures of the pelvis, ribs, humerus, radius, or ulna. Nonorthopedic conditions rarely, if ever, were accompanied by fat embolism syndrome. The fat embolism syndrome was more frequent in men (relative risk 5.71). Children, aged 0 to 9 years rarely had fat embolism syndrome. The fat embolism syndrome most commonly affected patients aged 10 to 39 years. The incidence of the fat embolism syndrome depends on the bone involved, whether fractures are isolated or multiple, the age of the patient and the gender. It rarely occurs as a result of medical conditions.

  3. Recurrent Fever Syndromes in Patients After Recovery From Kawasaki Syndrome

    PubMed Central

    Tremoulet, Adriana H.; Burns, Jane C.; Bastian, John F.; Hoffman, Hal M.

    2011-01-01

    The recurrence of fever in a child with a history of Kawasaki syndrome (KS) poses a dilemma for clinicians who must consider the possibility of recurrent KS. In this report we present the cases of 4 patients who presented with classical symptoms of KS, were successfully treated with intravenous immunoglobulin, and later experienced a reappearance of inflammatory symptoms in a pattern consistent with a recurrent fever syndrome. The association of these syndromes within the same patient suggests that some patients may have a genetic propensity toward altered immune responses and autoinflammatory syndromes. We propose that these 2 syndromes exist within a family of febrile disorders related to innate immune dysregulation. PMID:21220401

  4. Hantavirus pulmonary syndrome.

    PubMed

    Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

    2010-03-01

    Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

  5. Fat embolism syndrome

    PubMed Central

    George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

    2013-01-01

    Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

  6. What Is Antiphospholipid Antibody Syndrome?

    MedlinePlus

    ... or rheumatic (ru-MAT-ik) disorders, such as lupus . ("Rheumatic" refers to disorders that affect the joints, ... aCL syndrome Antiphospholipid syndrome aPL syndrome Hughes syndrome Lupus anticoagulant syndrome Causes Antiphospholipid antibody syndrome (APS) occurs ...

  7. Proteus syndrome*

    PubMed Central

    Rocha, Ritha de Cássia Capelato; Estrella, Mariani Paulino Soriano; do Amaral, Danielle Mechereffe; Barbosa, Angela Marques; de Abreu, Marilda Aparecida Milanez Morgado

    2017-01-01

    Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations. PMID:29166516

  8. Gorlin syndrome.

    PubMed

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  9. Fluency disorders in genetic syndromes.

    PubMed

    Van Borsel, John; Tetnowski, John A

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large). An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings. The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.

  10. Learning about WAGR Syndrome

    MedlinePlus

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  11. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

  12. Toxic Shock Syndrome

    MedlinePlus

    ... toxic shock syndrome results from toxins produced by Staphylococcus aureus (staph) bacteria, but the condition may also be ... a skin or wound infection. Causes Most commonly, Staphylococcus aureus (staph) bacteria cause toxic shock syndrome. The syndrome ...

  13. Turner Syndrome: Other FAQs

    MedlinePlus

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  14. Bardet-Biedl syndrome and Usher syndrome.

    PubMed

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  15. Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.

    PubMed

    Johnson, John P; Beischel, Linda; Schwanke, Corbin; Styren, Katie; Crunk, Amy; Schoof, Jonathan; Elias, Abdallah F

    2018-06-24

    In vitro fertilization (IVF) has been linked to an increased risk for imprinting disorders in offspring. The data so far have predominantly been retrospective, comparing the rate of IVF conceptions in affected patients with controls. We describe a series of fetuses with omphalocele that were tested for Beckwith-Wiedemann syndrome (BWS) and subsequently ascertained as to whether pregnancies were conceived by assisted reproductive technologies (ART). Fetuses were tested for BWS by Southern blot, PCR based methods, and methylation analysis to identify the imprinting status at primarily the IC2 locus, KCNQ1OT1, as well as IC1, H19/IGF-2. Some fetuses were also tested for uniparental disomy of chromosome 11p. We tested 301 fetuses with omphalocele for BWS. Forty samples were positive. Sixteen were from IVF pregnancies, for an overall rate of 40%. Such as high proportion of IVF pregnancies in a series of BWS-positive fetuses has not been described previously. Possible factors such as twinning and ascertainment bias are discussed. We found about a 20-fold overrepresentation of IVF cases in fetuses with BWS/omphalocele when compared with the rate of ART pregnancies in the USA (p < .0001). Our series provides support for an association of IVF and BWS. Patients should be counseled about these risks and made aware of the availability of prenatal diagnosis for detection.

  16. Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

    PubMed

    Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

    2014-08-01

    Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  17. National Down Syndrome Society

    MedlinePlus

    ... individuals with Down syndrome. Help us fix the law and end #LawSyndrome. Law Syndrome affects 100% of people with Down syndrome. It’s a series of antiquated laws that impede the pursuit of a career or ...

  18. Angelman Syndrome: Genetic Mechanisms and Relationship to Prader-Willi Syndrome.

    ERIC Educational Resources Information Center

    Smith, Arabella

    1994-01-01

    Research points to two distinct regions within the Prader-Willi chromosome region: one for Prader Willi syndrome and one for Angelman syndrome. Genetic mechanisms in Angelman syndrome are complex, and at present, three mechanisms are recognized: maternal deletion, paternal uniparental disomy, and a nondeleted nondisomic form. (Author/JDD)

  19. Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome.

    PubMed

    Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

    2014-12-26

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome.

  20. ["Refuse hoarding syndrome"].

    PubMed

    Jürgens, A

    2000-01-01

    The "litter hoarding syndrome" is described only occasionally during the past decades. It seems to be rather unknown in the psychiatric literature. In the course of the syndrome the patients gather more and more litter in their homes until it becomes unhabitable. Physicians and social psychiatric services are often confronted with this manifestation of a psychiatric illness. Because of the dramatic development, the extent and the specific circumstances this paper reports case of a young female patient with the litter hoarding syndrome. The term "litter hoarding syndrome" was first coined by Dettmering [3] during a lecture on 25.1.1984 in the Psychiatric Clinic of the Eppendorf University Hospital in Hamburg. In 1985 Klosterkötter et al. [7] described the "diogenes syndrome" which offered some nosological similarities. With the exception of this publications an the PhD thesis by Pastenaci [11] only a few reports have been published during the last 28 years throughout the world and no epidemiological data about the syndrome can be found. Based on this case some ideas about differential diagnosis and syndrome classification shall be presented.

  1. Psychological Well-Being of Mothers of Youth with Fragile X Syndrome: Syndrome Specificity and within-Syndrome Variability

    ERIC Educational Resources Information Center

    Lewis, P.; Abbeduto, L.; Murphy, M.; Richmond, E.; Giles, N.; Bruno, L.; Schroeder, S.; Anderson, J.; Orsmond, G.

    2006-01-01

    Background: Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet…

  2. Gorlin-Goltz Syndrome

    PubMed Central

    Pandeshwar, Padma; Jayanthi, K.; Mahesh, D.

    2012-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. PMID:23082255

  3. Burning mouth syndrome.

    PubMed

    Crow, Heidi C; Gonzalez, Yoly

    2013-02-01

    Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. Copyright © 2013. Published by Elsevier Inc.

  4. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

    PubMed Central

    Kiran, N. K.; Tilak Raj, T. N.; Mukunda, K. S.; Rajashekar Reddy, V.

    2012-01-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:23633824

  5. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

    PubMed

    Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

    2012-10-01

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  6. Can H-aggregates serve as light-harvesting antennae? Triplet-triplet energy transfer between excited aggregates and monomer thionine in aerosol-OT solutions

    SciTech Connect

    Das, S.; Kamat, P.V.

    1999-01-07

    The cationic dye thionine undergoes slow dissolution in aerosol-OT (AOT) containing solutions of heptane and toluene. By controlling the ratio of [dye]/[AOT], it is possible to obtain varying amounts of monomer, dimer, and higher order aggregates (trimer) in dilute dye solutions. The thionine aggregates exhibit characteristic absorption maxima at 565 and 530 nm for the dimer and trimer forms, respectively. The singlet excited states of these dye aggregates are short-lived ({tau} = 40--63 ps) as they undergo efficient intersystem crossing to generate the triplet excited states. Triplet energy transfer from the excited dye aggregates to monomeric thionine molecules was observedmore » upon excitation with a 532 nm laser pulse. Pulse radiolysis experiments, in which the excited triplet states were generated indirectly, also confirm the finding that the triplet energy cascades down from excited trimer to dimer to monomeric dye. These studies demonstrate the possibility of using H-type dye aggregates as antenna molecules to harvest light energy whereby the aggregate molecules absorb light in different spectral regions and subsequently transfer energy to the monomeric dye.« less

  7. [Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome].

    PubMed

    Kasten, Robert; Pfirrmann, Gudrun; Voigtländer, Volker

    2005-08-01

    A 43-year-old male with eunuchoid body proportions and a history of deep venous thromboses in the right leg presented with recurrent ulcers in the right perimalleolar region for 6 years. Karyotyping revealed a 47 XXY Klinefelter's syndrome, while serologic testing showed protein S deficiency, hyperhomocysteinemia and positive lupus anticoagulant. He also had mixed connective tissue disease (Sharp's syndrome) with acrosclerosis, proximal finger edema, Raynaud's phenomenon, and high titers of ANA and U1-RNP-antibodies, as well as osteoporosis. There is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels. Substitution of testosterone in Klinefelter's syndrome can have a favorable therapeutic effect on the associated connective tissue disease, thrombophilia and osteoporosis.

  8. Turner Syndrome (For Teens)

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  9. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... repeated several times in one area of the X chromosome. The more repeats, the more likely the ...

  10. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    PubMed

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  11. Genetics Home Reference: Alagille syndrome

    MedlinePlus

    ... my area? Other Names for This Condition Alagille-Watson Syndrome Alagille's syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome ... hypoplasia hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts Watson-Miller syndrome Related Information How are genetic conditions ...

  12. Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

    PubMed

    Verhoeven, W M A; de Vries, B B A; Duffels, S J H; Egger, J I M; Noordam, C; Tuinier, S

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS phenotype. Virtually no information is available on the behavioral and psychopathological phenotype in this combination. The latter may be explained by the observation that psychiatric syndromes are especially prevalent in PWS patients with a UPD. It is concluded that instability in mood and behavior in this and other syndromes should be preferentially treated with mood stabilizing agents. Copyright (c) 2007 S. Karger AG, Basel.

  13. Could metabolic syndrome, lipodystrophy, and aging be mesenchymal stem cell exhaustion syndromes?

    PubMed

    Mansilla, Eduardo; Díaz Aquino, Vanina; Zambón, Daniel; Marin, Gustavo Horacio; Mártire, Karina; Roque, Gustavo; Ichim, Thomas; Riordan, Neil H; Patel, Amit; Sturla, Flavio; Larsen, Gustavo; Spretz, Rubén; Núñez, Luis; Soratti, Carlos; Ibar, Ricardo; van Leeuwen, Michiel; Tau, José María; Drago, Hugo; Maceira, Alberto

    2011-01-01

    One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES). The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs) pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies.

  14. Could Metabolic Syndrome, Lipodystrophy, and Aging Be Mesenchymal Stem Cell Exhaustion Syndromes?

    PubMed Central

    Mansilla, Eduardo; Díaz Aquino, Vanina; Zambón, Daniel; Marin, Gustavo Horacio; Mártire, Karina; Roque, Gustavo; Ichim, Thomas; Riordan, Neil H.; Patel, Amit; Sturla, Flavio; Larsen, Gustavo; Spretz, Rubén; Núñez, Luis; Soratti, Carlos; Ibar, Ricardo; van Leeuwen, Michiel; Tau, José María; Drago, Hugo; Maceira, Alberto

    2011-01-01

    One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES). The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs) pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies. PMID:21716667

  15. Piriformis syndrome

    MedlinePlus

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  16. Is the metabolic syndrome a "small baby" syndrome?: the bogalusa heart study.

    PubMed

    Harville, Emily W; Srinivasan, Sathanur; Chen, Wei; Berenson, Gerald S

    2012-12-01

    Metabolic syndrome has been called a "small baby syndrome," but other analyses suggest that postnatal growth is more important than birthweight, or that large babies are also at risk. The aim of this analysis was to examine whether there was a relationship between both low and high birthweight and metabolic syndrome, using multiple definitions of metabolic syndrome, and to determine whether this relationship varied by body size across the life course. Data from the Bogalusa Heart Study, a study of cardiovascular disease in children and young adults, were linked to birth certificate data. Metabolic syndrome was defined by the National Cholesterol Education Program, the International Diabetes Foundation, and the World Health Organization (WHO) definition. Small-for-gestational-age (SGA) was defined as birthweight <10(th) percentile by sex for gestational age and large-for-gestational-age (LGA) as birthweight >90(th) percentile. Birthweight-for-gestational-age was also examined as a continuous predictor. Chi-squared tests and logistic regression were used to examine the relationship between birth size and metabolic syndrome. Higher birthweight-for-gestational-age was associated with a reduced risk of metabolic syndrome, especially by the WHO definition. After adjustment for body mass index (BMI), categorized birthweight was associated with metabolic syndrome, with the protective associations with LGA being stronger than the positive associations with SGA. Among the individual components of metabolic syndrome, higher waist circumference was associated with both SGA and LGA after BMI was controlled for. Effects of SGA and BMI at any age were largely independent rather than interactive. SGA is associated with some, but not all, components of metabolic syndrome. The relationship between SGA and metabolic syndrome is partially confounded by later BMI.

  17. Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.

    PubMed

    Miller, Jennifer L; Tamura, Roy; Butler, Merlin G; Kimonis, Virginia; Sulsona, Carlos; Gold, June-Anne; Driscoll, Daniel J

    2017-05-01

    Prader-Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems, increased anxiety, and compulsive behaviors. Individuals with PWS have a deficit of oxytocin producing neurons in the paraventricular nucleus of the hypothalamus. Oxytocin plays a role in regulation of feeding behaviors, social interactions, and emotional reactivity, which are all issues that significantly affect the quality of life for individuals with this syndrome. We performed a double-blind, placebo-controlled, crossover study in 24 children with PWS at three academic institutions using 5 days of intranasal oxytocin (IN-OT) or 5 days of intranasal placebo spray, followed by a 4 week washout period, and then patients returned for 5 days of treatment with the alternate source. Questionnaires, including the Aberrant Behavior Checklist, Social Responsiveness Scale, Repetitive Behavior Scale - Revised, and the Hyperphagia Questionnaire, as well as Clinical Global Impression scales were administered. Blood testing for sodium, potassium, and glucose levels on days 2, 4, and 6, and a 24 hr diet recall. All scales factor improvement from Day 3 to Day 6 favored oxytocin over placebo. No single factor showed a statistically significant difference (P < 0.05) between groups at Day 6. The drug effect appeared to be diminished at Day 14. There was no evidence of a difference between oxytocin and placebo in safety lab parameters, 60 min post dose vital signs, weight, or diet parameters. The results from this study suggest that low dose intranasal oxytocin is safe for individuals with PWS and may result in reduction in appetite drive, and improvements in socialization, anxiety, and repetitive behaviors. Further, long-term studies with a larger population of participants are necessary to confirm these findings. The results of this study are encouraging that oxytocin may be a safe and effective treatment for

  18. Felty syndrome

    MedlinePlus

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  19. Unusual headache syndromes.

    PubMed

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  20. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    PubMed

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  1. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    PubMed Central

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-01-01

    Background Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). Objective To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp’s Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Results Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital. PMID:25517388

  2. Gorlin-goltz syndrome.

    PubMed

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

    2014-03-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  3. An investigation in the MSFC TWT to determine spoiler effects on wing loads and elevon hinge moments utilizing 0.004-scale models (77-0 and 74-OTS) of the shuttle vehicle 5 configuration (IA125)

    NASA Technical Reports Server (NTRS)

    Allen, E. C.

    1976-01-01

    Information is presented for wind tunnel tests (IA125) of a 0.004-scale orbiter, external tank, and solid rocket motor integrated vehicle model (77-0 and 74-OTS) in the MSFC Trisonic Wind Tunnel. These tests were conducted in support of MCR's 1344 and 1346. Data from these tests provide spoiler effects on wing bending/torsion and elevon hinge moments, elevon effectiveness data and the influence of solid plumes from Mach numbers of 0.6 through 2.74 at angles of attack and sideslip from -10 through 10 degrees.

  4. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    PubMed

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  5. Angelman Syndrome

    MedlinePlus

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ...

  6. Myelodysplastic Syndromes

    MedlinePlus

    ... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

  7. Reye syndrome

    MedlinePlus

    ... syndrome has occurred in children who were given aspirin when they had chickenpox or the flu. Reye syndrome has become very rare. This is because aspirin is no longer recommended for routine use in ...

  8. The Disuse Syndrome

    PubMed Central

    Bortz II, Walter M.

    1984-01-01

    Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

  9. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  10. Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

    PubMed

    Banerjee, Purnajyoti; McLean, Christopher

    2011-06-14

    Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

  11. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

    PubMed

    Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2015-03-01

    Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Myelodysplastic Syndromes

    MedlinePlus

    ... such as tobacco, benzene and pesticides, or to heavy metals, such as lead. Types of myelodysplastic syndromes The ... and industrial chemicals, such as benzene. Exposure to heavy metals. Heavy metals linked to myelodysplastic syndromes include lead ...

  13. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  14. Cushing's Syndrome

    MedlinePlus

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  15. Usher Syndrome

    MedlinePlus

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  16. Reye Syndrome

    MedlinePlus

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  17. Gorlin-Goltz Syndrome

    PubMed Central

    Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

  18. Sport specificity of mental disorders: the issue of sport psychiatry.

    PubMed

    Bär, Karl-Jürgen; Markser, Valentin Z

    2013-11-01

    The prevalence of psychiatric conditions among elite athletes is still under debate. More and more evidence has accumulated that high-performance athletes are not protected from mental disorders as previously thought. The authors discuss the issue of the sport specificity of selected mental diseases in elite athletes. Specific aspects of eating disorders, exercise addiction, chronic traumatic encephalopathy and mood disorders in the context of overtraining syndrome are examined. In particular, the interrelationship between life and work characteristics unique to elite athletes and the development of mental disorders are reviewed. Differences of clinical presentation and some therapeutic consequences are discussed. The authors suggest that the physical and mental strains endured by elite athletes might influence the onset and severity of their psychiatric disorder. Beside the existing research strategies dealing with the amount of exercise, its intensity and lack of recreation experienced by athletes, further research on psycho-social factors is needed to better understand the sport-specific aetiology of mental disorders in high-performance athletes.

  19. Aicardi Syndrome

    MedlinePlus

    ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org http://www.aicardisyndrome. ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org ...

  20. A new familial intrauterine growth retardation syndrome the "3-M syndrome".

    PubMed

    Spranger, J; Opitz, J M; Nourmand, A

    1976-09-01

    Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

  1. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    PubMed

    Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

    2008-12-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

  2. Zellweger Syndrome

    MedlinePlus

    ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  3. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    PubMed

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

  4. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

    PubMed

    Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

    2018-03-05

    To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

  5. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

    PubMed

    Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

    2017-11-01

    CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

  6. Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

    PubMed

    Mull, Jamie L; Madden, Lisa M; Bayliss, Susan J

    2016-07-01

    We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear. © 2016 Wiley Periodicals, Inc.

  7. Mirror Syndrome assocciated with Patau Syndrome: A Case Report.

    PubMed

    Pais, Ana Sofia; Areia, Ana Luísa Fialho Amaral de; Franco, Sofia Margarida Perienes; Fonseca, Etelvina Morais Ferreira; Moura, José Paulo Achando Silva

    2018-05-16

    Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome. Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil.

  8. Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones.

    PubMed

    Akbari, Maryam; Chen, Harold; Guo, Grace; Legan, Zachary; Ghali, Ghali

    2018-01-31

    In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet challenges and advancements in the management of Gorlin syndrome and to provide a new clinical perspective and guidance for future research. Furthermore, the FDA approved Hedgehog pathway inhibitors Vismodegib and Sonidegib designed for advanced basal cell carcinoma have opened a new door for treatment that may ultimately decrease the number of surgeries for a patient with Gorlin syndrome. The role of these agents in syndromic odontogenic keratocyst has not been studied extensively, but one study found that hedgehog pathway inhibitors decrease the size of syndromic odontogenic keratocyst. Ideal surgical treatment that balances low recurrence rates with low impact on one's quality of life for syndromic odontogenic keratocyst is another unanswered question for oral and maxillofacial surgeons. Per survey studies, treatment options practiced for syndromic odontogenic keratocyst range from marsupialization to segmental osteotomy. Future studies performed should take a comprehensive long-term approach with at least three years of follow-up in order to determine the most appropriate treatment. Copyright © 2018 Elsevier B.V. All rights reserved.

  9. Drug-Induced Hematologic Syndromes

    PubMed Central

    Mintzer, David M.; Billet, Shira N.; Chmielewski, Lauren

    2009-01-01

    Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications. PMID:19960059

  10. Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

    ERIC Educational Resources Information Center

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2017-01-01

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

  11. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  12. Postthrombotic Syndrome

    MedlinePlus

    ... Rondina MT. Contemporary issues in the prevention and management of postthrombotic syndrome. Ann Pharmacother . 2009 ; 43 : 1824 –1835. OpenUrl CrossRef PubMed ↵ Kahn SR, Ginsberg JS. Relationship between deep venous thrombosis and the postthrombotic syndrome. ...

  13. A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

    PubMed

    Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

    2015-01-01

    Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

  14. Chronic exertional compartment syndrome of the superficial posterior compartment: Soleus syndrome.

    PubMed

    Gross, Christopher E; Parekh, Bela J; Adams, Samuel B; Parekh, Selene G

    2015-01-01

    Chronic exertional compartment syndrome (CECS) represents the second most-common cause of exertional leg pain with incidence of 27-33%. CECS of the superficial posterior compartment, or soleus syndrome, is rare and has only been discussed briefly in the literature. We discuss the management of two patients with bilateral soleus syndrome or CECS of the superficial posterior compartment.

  15. Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

    PubMed

    Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

    2015-05-07

    Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

  16. Rare case of nephrotic syndrome: Schimke syndrome.

    PubMed

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  17. Syndromic Disorders with Short Stature

    PubMed Central

    Şıklar, Zeynep; Berberoğlu, Merih

    2014-01-01

    Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303

  18. Learning about Down Syndrome

    MedlinePlus

    ... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

  19. Tourette Syndrome

    MedlinePlus

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  20. Brugada Syndrome

    MedlinePlus

    ... A telltale abnormality — called a type 1 Brugada ECG pattern — is detected by an electrocardiogram (ECG) test. Brugada syndrome is much more common in ... syndrome is an abnormal pattern on an electrocardiogram (ECG) called a type 1 Brugada ECG pattern. You ...

  1. Facts about Down Syndrome

    MedlinePlus

    ... Down syndrome is a condition in which a person has an extra chromosome. What is Down Syndrome? Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” ...

  2. [The refeeding syndrome].

    PubMed

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  3. Relationships among personality traits, metabolic syndrome, and metabolic syndrome scores: The Kakegawa cohort study.

    PubMed

    Ohseto, Hisashi; Ishikuro, Mami; Kikuya, Masahiro; Obara, Taku; Igarashi, Yuko; Takahashi, Satomi; Kikuchi, Daisuke; Shigihara, Michiko; Yamanaka, Chizuru; Miyashita, Masako; Mizuno, Satoshi; Nagai, Masato; Matsubara, Hiroko; Sato, Yuki; Metoki, Hirohito; Tachibana, Hirofumi; Maeda-Yamamoto, Mari; Kuriyama, Shinichi

    2018-04-01

    Metabolic syndrome and the presence of metabolic syndrome components are risk factors for cardiovascular disease (CVD). However, the association between personality traits and metabolic syndrome remains controversial, and few studies have been conducted in East Asian populations. We measured personality traits using the Japanese version of the Eysenck Personality Questionnaire (Revised Short Form) and five metabolic syndrome components-elevated waist circumference, elevated triglycerides, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose-in 1322 participants aged 51.1±12.7years old from Kakegawa city, Japan. Metabolic syndrome score (MS score) was defined as the number of metabolic syndrome components present, and metabolic syndrome as having the MS score of 3 or higher. We performed multiple logistic regression analyses to examine the relationship between personality traits and metabolic syndrome components and multiple regression analyses to examine the relationship between personality traits and MS scores adjusted for age, sex, education, income, smoking status, alcohol use, and family history of CVD and diabetes mellitus. We also examine the relationship between personality traits and metabolic syndrome presence by multiple logistic regression analyses. "Extraversion" scores were higher in those with metabolic syndrome components (elevated waist circumference: P=0.001; elevated triglycerides: P=0.01; elevated blood pressure: P=0.004; elevated fasting glucose: P=0.002). "Extraversion" was associated with the MS score (coefficient=0.12, P=0.0003). No personality trait was significantly associated with the presence of metabolic syndrome. Higher "extraversion" scores were related to higher MS scores, but no personality trait was significantly associated with the presence of metabolic syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

  4. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  5. Down Syndrome - Genetics and Cardiogenetics.

    PubMed

    Plaiasu, Vasilica

    2017-09-01

    During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21. Prenatal and postnatal testing has become commonly used to diagnose different cases presenting the same pathology. Early clinical diagnosis is extremely important for patient prognosis. Lately, advances in Down syndrome research have been registered, but little is known about cardiovascular phenotype in Down syndrome. About half of patients with Down syndrome have congenital heart disease, and atrioventricular septal defects are the most common defects found. Basic research on Down syndrome is now rapidly accelerating, using new genomic technologies. There were many studies performed to identify a correlation between genotype and phenotype in Down syndrome.

  6. [Williams-Beuren syndrome (Williams syndrome). Case report].

    PubMed

    Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

    2017-11-01

    Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

  7. Sjogren's Syndrome

    MedlinePlus

    ... symptoms. Symptoms The two main symptoms of Sjogren's syndrome are: Dry eyes. Your eyes might burn, itch or feel gritty — ... mouth is dry. Yeast infections. People with Sjogren's syndrome are much ... Vision problems. Dry eyes can lead to light sensitivity, blurred vision and ...

  8. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary

    PubMed Central

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-01-01

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

  9. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    ERIC Educational Resources Information Center

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  10. Re-examining Nelson's syndrome.

    PubMed

    Palermo, Nadine E; Ananthakrishnan, Sonia

    2015-08-01

    Nelson's syndrome is a rare complication that can occur during the course of management of Cushing's disease. This article summarizes the recent literature on the diagnosis, monitoring and treatment of this potentially life-threatening outcome. Nelson's syndrome, with rising adrenocorticotropin hormone levels and corticotroph tumor progression on diagnostic imaging, can develop following treatment of refractory Cushing's disease with total bilateral adrenalectomy with/without radiotherapy. However, data showing that radiotherapy prevents Nelson's syndrome is inconsistent. In addition to the treatment of Nelson's syndrome with neurosurgery with/without adjuvant radiotherapy, selective somatostatin analogs and dopamine agonists, as well as other novel agents, have been used with increasing frequency in treating cases of Nelson's syndrome with limited benefit. The risk-benefit profile of each of these therapies is still not completely understood. Consensus guidelines on the evaluation and management of Nelson's syndrome are lacking. This article highlights areas in the surveillance of Cushing's disease patients, and diagnostic criteria and treatment regimens for Nelson's syndrome that require further research and review by experts in the field.

  11. Laugier-Hunziker-Baran syndrome.

    PubMed

    Yago, Kaori; Tanaka, Yoichi; Asanami, Soichiro

    2008-08-01

    Laugier-Hunziker-Baran syndrome represents a rare acquired pigmentary disorder which has no relevance to internal disorders and has no familial association. There are few reports on histopathologic studies of this syndrome concerning Japanese individuals. The differential diagnosis of oral and pigmented lesions between Laugier-Hunziker-Baran syndrome and other disorders, Peutz-Jeghers syndrome in particular, requires our utmost consideration. Biopsy specimens of 2 cases were taken from pigmented maculae on the lower lips, buccal mucosa, tongue, and palate. Similar histopathologic findings were observed for all locations. The histopathologic examination showed that there was an accumulation of melanin in the basal layer as well as an increase in the number of melanophages in the subepithelial area. Oral scientists and clinicians must be familiar with Laugier-Hunziker-Baran syndrome, because this syndrome is probably more common than is generally recognized.

  12. Acute nephritic syndrome

    MedlinePlus

    ... Names Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute Images Kidney anatomy References Appel GB, Radhakrishnan J. Glomerular disorders and nephrotic syndromes. In: Goldman L, ...

  13. [Hyperimmunoglobulin D syndrome].

    PubMed

    Drenth, J P; Denecker, N E; Prieur, A M; Van der Meer, J W

    1995-09-16

    The hyper-IgD syndrome is a rare entity characterized by early onset of attacks of periodic fever. All patients have an elevated serum IgD (> 100 U/ml). Symptoms during attacks include joint involvements (arthralgias/arthritis), abdominal complaints (vomiting, pain, diarrhoea), skin lesions, swollen lymph nodes, and headache. In 1992 an International hyper-IgD study group was established, and to date the diagnosis has been made in 60, mainly European patients; 14 come from France. The disorder occurs in families and is transmitted by autosomal recessive inheritance. Linkage studies indicate that the gene encoding for familial Mediterranean fever is different from the gene for the hyper-IgD syndrome. In children the hyper-IgD syndrome should be distinguished from two other periodic febrile disorders. CINCA (chronic inflammatory, neurological, cutaneous and articular syndrome) and FAPA (periodic fever, adenopathies, pharyngitis, and aphtous stomatitis) share some symptoms with the hyper-IgD syndrome but in these syndromes serum IgD is normal. The pathogenesis remains to be elucidated but during attacks all patients have an acute-phase response with elevated C-reactive protein concentrations. During the febrile episodes, the inflammatory cytokines such as IL-6 TNF alpha, IFN gamma are increased together with natural occurring inhibitors such as IL-1ra and sTNFr. There is no therapy for the syndrome and patients will experience attacks during their entire life although frequency and severity tend to diminish with age.

  14. The cardiofaciocutaneous syndrome

    PubMed Central

    Roberts, A; Allanson, J; Jadico, S K; Kavamura, M I; Noonan, J; Opitz, J M; Young, T; Neri, G

    2006-01-01

    The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward‐slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain‐of‐function mutations in four different genes BRAF, KRAS, mitogen‐activated protein/extracellular signal‐regulated kinase MEK1 and MEK2, all belonging to the same RAS–extracellular signal‐regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP‐2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS–ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness. PMID:16825433

  15. What Is Usher Syndrome?

    MedlinePlus

    ... and usually appears during adolescence or early adulthood. Balance may also be affected in people with Usher syndrome. Symptoms and disease progression vary from person to person. There are three general categories of Usher syndrome. People with Usher syndrome ...

  16. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome

    PubMed Central

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-01-01

    Abstract Rationale: The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. Patient concerns: We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Diagnoses: Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. Intervetions: The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Outcomes: Clinical improvement ensued. At follow-up the patient is well. Lessons: The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities. PMID:29642153

  17. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    ERIC Educational Resources Information Center

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  18. Comparison of metabolic syndrome with growing epidemic syndrome Z in terms of risk factors and gender differences.

    PubMed

    Uyar, Meral; Davutoğlu, Vedat; Aydın, Neriman; Filiz, Ayten

    2013-05-01

    The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 to January 2011 were retrospectively evaluated. ATP III and JNC 7 were used for defining metabolic syndrome and hypertension. Data of 761 patients were evaluated. Hypertension, diabetes mellitus, coronary artery disease, pulmonary hypertension, and left ventricular hypertrophy were more common in patients with syndrome Z than in patients without metabolic syndrome. Age, waist/neck circumferences, BMI, triglyceride, glucose, and Epworth sleepiness scale score were detected higher, whereas the minimum oxygen saturation during sleep was lower in patients with syndrome Z. Metabolic syndrome was more common in sleep apneic subjects than in controls (58 versus 30 %). Female sleep apneics showed higher rate of metabolic syndrome than those of males (74 versus 52 %). Hypertension, diabetes mellitus, coronary artery disease, and left ventricular hypertrophy were detected higher in males with syndrome Z than in males without metabolic syndrome. Snoring and excessive daytime sleepiness were detected higher in females with syndrome Z than in females without metabolic syndrome. Systemic/pulmonary hypertension, diabetes mellitus, and left ventricular hypertrophy were more common in females with syndrome Z than in females without metabolic syndrome. Complaints of headache and systemic/pulmonary hypertension were more common among females than males with syndrome Z. Female syndrome Z patients had lower minimum oxygen saturation than male patients with syndrome Z. Metabolic syndrome in sleep apneic patients is more prevalent than in controls. All metabolic syndrome parameters were significantly different among obstructive sleep apneic patients with respect to gender with more severe

  19. Horner Syndrome

    MedlinePlus

    ... at birth Tumor of the hormonal and nervous systems (neuroblastoma) Unknown causes In some cases the cause of Horner syndrome cannot be identified. This is known as idiopathic Horner syndrome. By Mayo Clinic Staff . Mayo Clinic Footer Legal Conditions and Terms Any use of this site ...

  20. Is chronic fatigue syndrome synonymous with effort syndrome?

    PubMed Central

    Rosen, S D; King, J C; Wilkinson, J B; Nixon, P G

    1990-01-01

    Chronic fatigue syndrome (CFS), including myalgic encephalomyelitis (ME) and postviral syndrome (PVS), is a term used today to describe a condition of incapacity for making and sustaining effort, associated with a wide range of symptoms. None of the reviews of CFS has provided a proper consideration of the effort syndrome caused by chronic habitual hyperventilation. In 100 consecutive patients, whose CFS had been attributed to ME or PVS, the time course of their illness and the respiratory psychophysiological studies were characteristic of chronic habitual hyperventilation in 93. It is suggested that the labels 'CFS', 'ME' or 'PVS' should be withheld until chronic habitual hyperventilation - for which conventional rehabilitation is available - has been definitively excluded. PMID:2125315

  1. Munchausen syndrome and Munchausen syndrome by proxy: a narrative review.

    PubMed

    Sousa Filho, Daniel de; Kanomata, Elton Yoji; Feldman, Ricardo Jonathan; Maluf Neto, Alfredo

    2017-01-01

    The Munchausen syndrome and Munchausen syndrome by proxy are factitious disorders characterized by fabrication or induction of signs or symptoms of a disease, as well as alteration of laboratory tests. People with this syndrome pretend that they are sick and tend to seek treatment, without secondary gains, at different care facilities. Both syndromes are well-recognized conditions described in the literature since 1951. They are frequently observed by health teams in clinics, hospital wards and emergency rooms. We performed a narrative, nonsystematic review of the literature, including case reports, case series, and review articles indexed in MEDLINE/PubMed from 1951 to 2015. Each study was reviewed by two psychiatry specialists, who selected, by consensus, the studies to be included in the review. Although Munchausen syndrome was first described more than 60 years ago, most of studies in the literature about it are case reports and literature reviews. Literature lacks more consistent studies about this syndrome epidemiology, therapeutic management and prognosis. Undoubtedly, these conditions generate high costs and unnecessary procedures in health care facilities, and their underdiagnose might be for lack of health professional's knowledge about them, and to the high incidence of countertransference to these patients and to others, who are exposed to high morbidity and mortality, is due to symptoms imposed on self or on others.

  2. Munchausen syndrome and Munchausen syndrome by proxy: a narrative review

    PubMed Central

    de Sousa, Daniel; Kanomata, Elton Yoji; Feldman, Ricardo Jonathan; Maluf, Alfredo

    2017-01-01

    ABSTRACT The Munchausen syndrome and Munchausen syndrome by proxy are factitious disorders characterized by fabrication or induction of signs or symptoms of a disease, as well as alteration of laboratory tests. People with this syndrome pretend that they are sick and tend to seek treatment, without secondary gains, at different care facilities. Both syndromes are well-recognized conditions described in the literature since 1951. They are frequently observed by health teams in clinics, hospital wards and emergency rooms. We performed a narrative, nonsystematic review of the literature, including case reports, case series, and review articles indexed in MEDLINE/PubMed from 1951 to 2015. Each study was reviewed by two psychiatry specialists, who selected, by consensus, the studies to be included in the review. Although Munchausen syndrome was first described more than 60 years ago, most of studies in the literature about it are case reports and literature reviews. Literature lacks more consistent studies about this syndrome epidemiology, therapeutic management and prognosis. Undoubtedly, these conditions generate high costs and unnecessary procedures in health care facilities, and their underdiagnose might be for lack of health professional's knowledge about them, and to the high incidence of countertransference to these patients and to others, who are exposed to high morbidity and mortality, is due to symptoms imposed on self or on others. PMID:29364370

  3. [Refeeding syndrome].

    PubMed

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  4. Carpal Tunnel Syndrome

    PubMed Central

    Zimmerman, Gregory R.

    1994-01-01

    Carpal tunnel syndrome is a neuropathy resulting from compression of the median nerve as it passes through a narrow tunnel in the wrist on its way to the hand. The lack of precise objective and clinical tests, along with symptoms that are synonymous with other syndromes in the upper extremity, cause carpal tunnel syndrome to appear to be a rare entity in athletics. However, it should not be ruled out as a possible etiology of upper extremity paralysis in the athlete. More typically, carpal tunnel syndrome is the most common peripheral entrapment neuropathy encountered in industry. Treatment may include rest and/or splinting of the involved wrist, ice application, galvanic stimulation, or iontophoresis to reduce inflammation, and then transition to heat modalities and therapeutic exercises for developing flexibility, strength, and endurance. In addition, an ergonomic assessment should be conducted, resulting in modifications to accommodate the carpal tunnel syndrome patient. ImagesFig 3.Fig 4.Fig 5.Fig 6.Fig 7. PMID:16558255

  5. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection

  6. Asperger syndrome, violent thoughts and clinically isolated syndrome.

    PubMed

    Vanderbruggen, N; Van Geit, N; Bissay, V; Zeeuws, D; Santermans, L; Baeken, C

    2010-12-01

    A young man, 23 years old, with a clinically isolated syndrome (CIS), presented violent thoughts during a neurological consultation. He was diagnosed with Asperger Syndrome based on a psychiatric and (neuro)psychological examination. Possible risk factors for acting-out and the implications for treatment, if CIS would evolve to MS, are discussed based on a review of the literature.

  7. Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

    PubMed Central

    Kothari, Mihir; Manurung, Florence; Mithiya, Bhavesh

    2011-01-01

    Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental. PMID:22606474

  8. Peeling skin syndrome.

    PubMed

    Ilknur, Turna; Demirtaşoğlu, Melda; Akarsu, Sevgi; Lebe, Banu; Güneş, Ali Tahsin; Ozkan, Sebnem

    2006-01-01

    Peeling skin syndrome is a rare disease characterized by widespread painless peeling of the skin. To date, several cases have been described with different clinical features called peeling skin syndrome. Previous reports describe two types (type A and type B) of peeling skin syndrome, both of which show generalized desquamation, sparing palms and soles. We report a 23-year old man who has been classified as neither type A nor type B, and whose history, clinical features and histopathological findings led to a diagnosis of peeling skin syndrome. In addition, the desquamation pattern in our patient was different from that of both types because our case's palms and soles were involved too.

  9. The Importance of Seeing Red: Self-Teaching Techniques for Adult Aphasia

    ERIC Educational Resources Information Center

    Montgomery, Joan

    1971-01-01

    The use of color in speech therapy for adult aphasics is suggested to prolong attention span. Two other techniques, instant definition and over-training, which are helpful in relearning vocabulary words are described. (KW)

  10. The Capgras syndrome in paranoid schizophrenia.

    PubMed

    Silva, J A; Leong, G B

    1992-01-01

    Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

  11. Velo-Cardio-Facial Syndrome

    PubMed Central

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2010-01-01

    Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the subjects with VCFS develop schizophrenia like psychotic disorder the syndrome is the most commonly known genetic risk factor to schizophrenia. Identifying the genetic, cognitive and psychiatric risk factors for VCFS-schizophrenia is under the focus of intensive research. PMID:20111667

  12. SAPHO syndrome associated spondylitis

    PubMed Central

    Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-01-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy. PMID:18642032

  13. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  14. Eagle's Syndrome

    PubMed Central

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  15. Review of the refeeding syndrome.

    PubMed

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  16. Heterogeneity in Waardenburg syndrome.

    PubMed Central

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  17. Management of postpolio syndrome.

    PubMed

    Thorsteinsson, G

    1997-07-01

    Recent research has shed light on the pathogenesis of the postpolio syndrome and has helped explain its symptoms and the rationale for management. The aim of this article is to familiarize physicians with this syndrome. The history, acute infection, definition, and diagnosis are discussed, as well as the various symptoms and their management. People with postpolio syndrome can educate health professionals about this condition and can help others inflicted with this syndrome. Thus far, no cure is available. A correct diagnosis is important, and the physician must realize that severe comorbidities tend to afflict people with this syndrome. Numerous management options are available to help these people enjoy a high quality of life.

  18. Symptoms and Diagnosis of Metabolic Syndrome

    MedlinePlus

    ... Thromboembolism Aortic Aneurysm More Symptoms and Diagnosis of Metabolic Syndrome Updated:Apr 13,2017 What are the symptoms ... Syndrome? This content was last reviewed August 2016. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...

  19. [Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

    PubMed

    Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

    2006-01-01

    We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

  20. Mathematics learning disability in girls with Turner syndrome or fragile X syndrome.

    PubMed

    Murphy, Melissa M; Mazzocco, Michèle M M; Gerner, Gwendolyn; Henry, Anne E

    2006-07-01

    Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group, although the likelihood of MLD persisting through the primary school years was comparable for all three groups. In Study 2, formal and informal math skills were compared across the syndrome groups, a normative group, and children from the normative group who had MLD. Few differences were observed between the Turner syndrome and normative groups. Despite having rote counting and number representation skills comparable to those in the normative group, girls with fragile X had difficulty with counting rules (e.g., cardinality, number constancy). However, this difficulty did not distingush them from the MLD group. Overall, counting skills appear to distinguish the Turner syndrome and fragile X groups, suggesting that the specificity of math deficits emerges earlier for fragile X than Turner syndrome.

  1. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

    PubMed

    Wineland, Andre; Menezes, Maithilee D; Shimony, Joshua S; Shinawi, Marwan S; Hullar, Timothy E; Hirose, Keiko

    2017-02-01

    CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition. We performed a medical chart review of patients with CHARGE syndrome and reviewed their temporal bone imaging studies at a tertiary care children's hospital affiliated with Washington University in St Louis. Two authors independently reviewed each imaging study (A.W. and K.H.). Radiologic studies, physical findings, genetic tests, and other diagnostic tests were included. Patients with no temporal bone imaging studies were excluded. Eighteen children were included in this study; 13 children (72%) were male, and the mean (median; range) age of patients at the time of inner ear imaging studies was 2 years (4.5 years; 8 months to 8 years). Coloboma was present in 13 patients (72%) and choanal atresia in 5 (28%); semicircular canal anomalies were present in all patients. Additionally, 13 patients (72%) were diagnosed as having hindbrain anomalies, 17 (94%) as having endocrine disorders, 17 (94%) as having mediastinal organ malformations, and all as having middle or external ear abnormalities and development delay. Cleft lip and cleft palate were found in 6 of 14 patients (43%) who did not have choanal atresia. We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive. Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. Given the high prevalence of semicircular canal hypoplasia and importance of imaging for diagnosing CHARGE syndrome, we

  2. Psychosomatic syndromes and anorexia nervosa

    PubMed Central

    2013-01-01

    Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN), few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR) to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP) were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63%) and alexithymia (54.6%) resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%), somatization group (26%), and severe psychosomatic group (25%). The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments. PMID:23302180

  3. Dysmobility syndrome: current perspectives.

    PubMed

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

    2017-01-01

    A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%-34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome.

  4. Prostatitis Syndromes

    PubMed Central

    Nickel, J. Curtis

    1991-01-01

    The many prostatitis syndromes remain a frustrating enigma to family physicians as well as specialists. An understanding of the etiology and pathophysiology of these syndromes and a rigorous diagnostic plan to properly classify the patients at first presentation are essential to a successful treatment outcome. ImagesFigure 1 PMID:21229071

  5. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    PubMed

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  6. Polycystic Ovary Syndrome

    MedlinePlus

    Polycystic ovary syndrome (PCOS) Overview Polycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. Women with PCOS may have infrequent or prolonged menstrual periods ...

  7. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

    PubMed

    Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

    2014-11-01

    The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

  8. Rett syndrome and menstruation.

    PubMed

    Hamilton, Amy; Marshal, Michael P; Sucato, Gina S; Murray, Pamela J

    2012-04-01

    Describe the experience that girls with Rett syndrome have with menstruation including menstrual hygiene, dysmenorrhea, premenstrual syndrome (PMS), and attempts at treatment. Anonymous web-based survey. Convenience sample recruited from Rett syndrome LISTSERV in July of 2009. Mothers of girls with Rett syndrome between the ages of 10-25 who have had at least one menses. Prevalence, frequency, and severity of dysmenorrhea and PMS; hygiene concerns; and treatments attempts and perceived effectiveness. Dysmenorrhea and PMS are common problems among young women with Rett syndrome. Despite their frequency and severity they do not routinely limit activities. Multiple treatment attempts are common. Hormonal contraception is used mostly for menstrual cycle control with oral contraceptive pills the most commonly used method. Young women with Rett syndrome have standard symptoms of dysmenorrhea and PMS as well as autism spectrum specific PMS symptoms. Hormonal contraception is commonly used for menstrual management. Copyright © 2012 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  9. [Congenital sensorineural deafness and associated syndromes].

    PubMed

    Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

    1990-01-01

    The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

  10. The association between the metabolic syndrome and metabolic syndrome score and pulmonary function in non-smoking adults.

    PubMed

    Yoon, Hyun; Gi, Mi Young; Cha, Ju Ae; Yoo, Chan Uk; Park, Sang Muk

    2018-03-01

    This study assessed the association of metabolic syndrome and metabolic syndrome score with the predicted forced vital capacity and predicted forced expiratory volume in 1 s (predicted forced expiratory volume in 1 s) values in Korean non-smoking adults. We analysed data obtained from 6684 adults during the 2013-2015 Korean National Health and Nutrition Examination Survey. After adjustment for related variables, metabolic syndrome ( p < 0.001) and metabolic syndrome score ( p < 0.001) were found to be inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values. The odds ratios of restrictive pulmonary disease (the predicted forced vital capacity < 80.0% with forced expiratory volume in 1 s/FVC ⩾ 70.0%) by metabolic syndrome score with metabolic syndrome score 0 as a reference group showed no significance for metabolic syndrome score 1 [1.061 (95% confidence interval, 0.755-1.490)] and metabolic syndrome score 2 [1.247 (95% confidence interval, 0.890-1.747)], but showed significant for metabolic syndrome score 3 [1.433 (95% confidence interval, 1.010-2.033)] and metabolic syndrome score ⩾ 4 [1.760 (95% confidence interval, 1.216-2.550)]. In addition, the odds ratio of restrictive pulmonary disease of the metabolic syndrome [1.360 (95% confidence interval, 1.118-1.655)] was significantly higher than those of non-metabolic syndrome. Metabolic syndrome and metabolic syndrome score were inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values in Korean non-smoking adults. In addition, metabolic syndrome and metabolic syndrome score were positively associated with the restrictive pulmonary disease.

  11. Meigs Syndrome Superimposed on Gorlin Syndrome in a 14-Year-Old Girl.

    PubMed

    Iwasaki, Keita; Matsushita, Hiroshi; Murakami, Hideki; Watanabe, Kazushi; Wakatsuki, Akihiko

    2016-10-01

    Meigs syndrome is a rare complication associated with ovarian fibromas. Although ovarian fibromas are rare in children, they are common in women with Gorlin syndrome after puberty. A 14-year-old girl with Gorlin syndrome was admitted to our hospital for ablation of basal cell carcinoma. A chest x-ray revealed pleural effusion. Ultrasonography revealed bilateral multinodular ovarian masses. Meigs syndrome associated with ovarian fibromas was considered. A laparotomy revealed bilateral ovarian masses, which were resected. Microscopically, the masses were composed of mitotically active fibroma and areas resembling hemangiopericytoma and luteinized thecoma. The pleural effusion disappeared soon after the surgery. Physicians should consider the possibility that pleural effusion might precede the diagnosis of ovarian fibroma in patients with Gorlin syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  12. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

    PubMed

    Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

    2013-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

  13. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report

    PubMed Central

    FINI, G.; BELLI, E.; MICI, E.; VIRCIGLIO, P.; MORICCA, L.M.; D’ITRI, L.; LEONARDI, A.; MALAVENDA, M.S.; KRIZZUK, D.; MEROLA, R.; MATURO, A.; PASTA, V.

    2013-01-01

    Summary: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient’s life under threat. PMID:23837959

  14. A rare cause of acute coronary syndrome: Kounis syndrome.

    PubMed

    Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

    2016-12-01

    Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

    PubMed Central

    Le Merrer, M; Brauner, R; Maroteaux, P

    1991-01-01

    Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency. Mental development is normal. The mode of inheritance seems to be autosomal recessive because of consanguinity in three of the four sibships. Some overlap with the 3-M syndrome is discussed but the autonomy of the gloomy face syndrome seems to be real. Images PMID:2051454

  16. Results of investigations conducted in the LaRC 4-foot unitary plan wind tunnel leg no. 1 using the 0.010-scale 72-OTS model of the space shuttle integrated vehicle (IA94A)

    NASA Technical Reports Server (NTRS)

    Nichols, M. E.

    1976-01-01

    Aero-loads investigations were conducted on the updated configuration-5 space shuttle launch vehicle at Mach numbers 2.50, 3.50, and 4.50. Six-component vehicle forces and moments, base and sting-cavity pressures, elevon hinge moments, wing-root bending and torsion moments, and normal shear force data were obtained. Full simulation of updated vehicle protuberances and attach hardware was employed. Various elevon deflection angles were tested, with two different forward orbiter-to-external-tank attach-strut configurations. The entire vehicle model 72-OTS was supported by means of a balance mounted in the orbiter through its base and suspended from an appropriate sting for the specific tunnel.

  17. Metabolic syndrome and the risk of adverse cardiovascular events after an acute coronary syndrome.

    PubMed

    Cavallari, Ilaria; Cannon, Christopher P; Braunwald, Eugene; Goodrich, Erica L; Im, KyungAh; Lukas, Mary Ann; O'Donoghue, Michelle L

    2018-05-01

    Background The incremental prognostic value of assessing the metabolic syndrome has been disputed. Little is known regarding its prognostic value in patients after an acute coronary syndrome. Design and methods The presence of metabolic syndrome (2005 International Diabetes Federation) was assessed at baseline in SOLID-TIMI 52, a trial of patients within 30 days of acute coronary syndrome (median follow-up 2.5 years). The primary endpoint was major coronary events (coronary heart disease death, myocardial infarction or urgent coronary revascularization). Results At baseline, 61.6% ( n = 7537) of patients met the definition of metabolic syndrome, 34.7% (n = 4247) had diabetes and 29.3% had both ( n = 3584). The presence of metabolic syndrome was associated with increased risk of major coronary events (adjusted hazard ratio (adjHR) 1.29, p < 0.0001) and recurrent myocardial infarction (adjHR 1.30, p < 0.0001). Of the individual components of the definition, only diabetes (adjHR 1.48, p < 0.0001) or impaired fasting glucose (adjHR 1.21, p = 0.002) and hypertension (adjHR 1.46, p < 0.0001) were associated with the risk of major coronary events. In patients without diabetes, metabolic syndrome was numerically but not significantly associated with the risk of major coronary events (adjHR 1.13, p = 0.06). Conversely, diabetes was a strong independent predictor of major coronary events in the absence of metabolic syndrome (adjHR 1.57, p < 0.0001). The presence of both diabetes and metabolic syndrome identified patients at highest risk of adverse outcomes but the incremental value of metabolic syndrome was not significant relative to diabetes alone (adjHR 1.07, p = 0.54). Conclusions After acute coronary syndrome, diabetes is a strong and independent predictor of adverse outcomes. Assessment of the metabolic syndrome provides only marginal incremental value once the presence or absence of diabetes is established.

  18. Sensory Impairment and Head Circumference in Fragile X Syndrome, Down Syndrome and Idiopathic Intellectual Disability.

    ERIC Educational Resources Information Center

    Turk, Jeremy; Patton, Michael

    2000-01-01

    Eighteen boys with fragile X syndrome were compared with 42 with idiopathic intellectual disability, and 45 with Down syndrome. Boys with Down syndrome had more sensory problems and smaller head circumferences than normal. Head circumferences of boys with fragile X syndrome and with idiopathic intellectual disability were larger than normal.…

  19. [Locomotive syndrome and frailty. Locomotive syndrome due to the underlying disease of degenerative arthritis].

    PubMed

    Chosa, Etsuo

    2012-04-01

    Japan became a superaging society. We have been putting a new focus on locomotive syndrome and frailty. The prevention and treatment of locomotive syndromes, such as osteoarthritis, degenerative spondylosis, lumbar canal stenosis, osteoporosis, upper extremity diseases, rheumatoid arthritis, and many other disorders of the locomotive organs are important. Because, the locomotive syndrome results in deterioration of the exercise function and loss of mental and physical health. The aim of locomotive syndrome exercises are: to reduce pain, to restore and improve joint function. We need to take a comprehensive approach to locomotive syndrome, including lifestyle modification, muscle exercise, stretching and therapeutic exercise.

  20. Prune belly syndrome

    MedlinePlus

    ... treat or help prevent urinary tract infections. Support Groups The following resources can provide more information on prune belly syndrome: Prune Belly Syndrome Network -- www.prunebelly.org National Organization for Rare Disorders -- ...

  1. Marfan syndrome (image)

    MedlinePlus

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  2. Dubin-Johnson syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome (DJS) is a disorder passed down through ...

  3. Poland syndrome.

    PubMed

    Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K; Agrawal, Ravi P

    2014-01-01

    Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  4. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    PubMed

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  5. Urinary and plasma oxytocin changes in response to MDMA or intranasal oxytocin administration.

    PubMed

    Francis, Sunday M; Kirkpatrick, Matthew G; de Wit, Harriet; Jacob, Suma

    2016-12-01

    The neuropeptide oxytocin (OT) has received increased experimental attention for its putative role in both normal social functioning and several psychiatric disorders that are partially characterized by social dysfunction (e.g., autism spectrum disorders: ASD). Many human experimental studies measure circulating plasma levels of OT in order to examine the relationship between the hormone and behavior. Urinary OT (uOT) assays offer a simple, easy, and non-invasive method to measure peripheral hormone levels, but the correspondence between uOT and plasma OT (pOT) levels is unclear. Here, we conducted two within-subjects, double-blind studies exploring changes in uOT and pOT levels following administration of two drugs: MDMA, an oxytocin-releasing drug (Study 1), and intranasal oxytocin (INOT: Study 1 and 2). In Study 1, 14 adult participants (2 females) were each administered either oral 1.5mg/kg MDMA or 40IU INOT across two different study sessions. In Study 2, 10 male participants (adolescents and young adults) diagnosed with ASD received either 40IU INOT or placebo across two different sessions. In both studies, blood and urine samples were collected before and after drug administration at each study session. For Study 1, 10 participants provided valid plasma and urine samples for the MDMA session, and 8 provided valid samples for the INOT session. For Study 2, all 10 participants provided valid samples for both INOT and placebo sessions. Pre- and post-administration levels of pOT and uOT were compared. Additionally, correlations between percent change from baseline uOT and pOT levels were examined. Study 1: Plasma OT and uOT levels significantly increased after administration of MDMA and INOT. Furthermore, uOT levels were positively correlated with pOT levels following administration of MDMA (r=0.57, p=0.042) but not INOT (r=0.51, p=0.097). Study 2: There was a significant increase in uOT levels after administration of INOT, but not after administration of

  6. Kindler syndrome.

    PubMed

    Ashton, G H S

    2004-03-01

    Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal-epidermal junction. The molecular pathology underlying Kindler syndrome has recently been shown to involve loss-of-function mutations in a novel gene, KIND1, encoding kindlin-1. Immunofluorescence, gene expression and cell biology studies have shown that kindlin-1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix. Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin-extracellular matrix linkage rather than the classic keratin-extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin-1, in cell-matrix adhesion and its intriguing link to photosensitivity.

  7. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

    PubMed

    Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

    2015-11-01

    Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P < .002). All patients with colorectal carcinomas demonstrating isolated loss of MSH6 expression had Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Metabolic syndrome in young people.

    PubMed

    Poyrazoglu, Sukran; Bas, Firdevs; Darendeliler, Feyza

    2014-02-01

    The prevalence of obesity is on the increase, and consequently metabolic syndrome is also becoming a serious health problem in children and adolescents all over the world. This review attempts to summarize the recent literature on metabolic syndrome in children and adolescents. To date, a standard definition of metabolic syndrome for the pediatric population is not available. Recently, the International Diabetes Federation has proposed a new set of criteria to define metabolic syndrome in children and adolescents aged 6-16 years. The relationships between obesity, insulin resistance and metabolic syndrome may be explained by the pattern of lipid partitioning. Fatty liver plays a central role in the insulin-resistant state in obese adolescents. Although insulin resistance has been proposed as the central factor leading to the abnormalities observed in metabolic syndrome, most definitions of metabolic syndrome use impaired fasting glucose as a marker. Nutrition impairment during both prenatal and early postnatal life can cause metabolic disturbances leading to insulin-resistance, type 2 diabetes, hypertension and cardiovascular disease. Metabolic syndrome prevalence in children and adolescents is on the increase. Therefore, the emphasis in all studies and programs related to metabolic syndrome should be focused on prevention, early detection of metabolic risk factors and interventions that will have a significant impact on future adult health.

  9. Immune reconstitution inflammatory syndrome in acquired immunodeficiency syndrome.

    PubMed

    Jindal, A; Duggal, L; Jain, N; Malhotra, S

    2008-01-01

    A 33-year-old male presented with a history of fever and cough and was diagnosed to have pulmonary tuberculosis and acquired immunodeficiency syndrome (AIDS). He was started on antituberculosis therapy (ATT) followed by highly active anti-retroviral treatment (HAART) after one week. He developed an immune reconstitution inflammatory syndrome (IRIS) leading to an exacerbation of the tuberculosis disease. After HAART was stopped his condition improved dramatically.

  10. Usher syndrome type III can mimic other types of Usher syndrome.

    PubMed

    Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

    2003-06-01

    Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

  11. [Streptococcal toxic shock syndrome].

    PubMed

    Gvozdenović, Ljiljana; Pasternak, Janko; Milovanović, Stanislav; Ivanov, Dejan; Milić, Sasa

    2010-01-01

    Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella presented roughly 2-4 weeks later with a clinical syndrome highly suggestive of toxic shock syndrome. It is characterized by a sudden onset of fever, chills, vomiting, diarrhea, muscle aches and rash. It can rapidly progress to severe and intractable hypotension and multisystem dysfunction. Almost every organ system can he involved. Complications of streptococcal toxic shock syndrome may include kidney failure, liver failure (and even death. Crystalloids and inotropic agents are used to treat the hypovolemic shock aggressively, with close monitoring of the patient's mean arterial pressure and central venous pressure. An immediate and aggressive management of hypovolemic shock is essential in streptococcal toxic shock syndrome. Targeted antibiotics are indicated: penicillin or a beta-lactam antibiotic is used for treating group A streptococci, and clindamycin has emerged as a key portion of the standard treatment.

  12. Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

    PubMed Central

    Gandhi, N M; Bennett, D H

    2004-01-01

    The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

  13. Seckel syndrome and moyamoya.

    PubMed

    Codd, Patrick J; Scott, R Michael; Smith, Edward R

    2009-04-01

    Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. Occurring in 1 in 10,000 children without sex preference, it is the most common primordial microcephalic osteodysplastic dwarfism and has been associated with a variety of congenital brain malformations and intracranial aneurysms. Moyamoya syndrome is an idiopathic, chronic, progressive cerebrovascular disorder marked by stenosis of the intracranial internal carotid arteries and concurrent development of hypertrophied collateral vessels. These tortuous arterial collaterals appear radiographically as "puffs of smoke," giving the syndrome its name. In this report, the authors describe the case of a 16-year-old girl with coincident Seckel and moyamoya syndromes. To their knowledge, this is the first reported case of such an association being treated with surgical revascularization. The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. Imaging studies revealed multiple completed cerebral infarcts, global ischemic changes, and vascular anatomy consistent with moyamoya syndrome. Bilateral pial synangioses successfully revascularized each hemisphere with resolution of the patient's symptoms. The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. In addition, the report reveals the rapid development of an intracranial aneurysm in a patient with this syndrome. When coupled with previous reports of other types of cerebrovascular disease in patients with Seckel syndrome or other primordial dwarfisms, the authors' findings are important because they suggest that physicians treating patients with dwarfism should consider the diagnosis of

  14. [Cotard syndrome].

    PubMed

    Simovici, G; Bauer, A

    1996-01-01

    We describe a schizophrenic paranoid patient, who developed a unique clinical state that fits the Cotard syndrome. The article deals with the course of the disease, the clinical characteristics, the difficulties of treatment. The process of diagnosis and its difficulties, and the rareness of the symptoms are emphasized. Various etiological causes of the syndrome are discussed.

  15. Poland syndrome

    PubMed Central

    Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

  16. Kleine-Levin Syndrome

    MedlinePlus

    ... between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some ... between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some ...

  17. Carpal Tunnel Syndrome

    MedlinePlus

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  18. Cubital Tunnel Syndrome

    MedlinePlus

    ... Tunnel Syndrome Find a hand surgeon near you. Videos Cubital Tunnel Syndrome Close Popup Figures Figure 1 - ... or "in." Also, avoid using media types like "video," "article," and "picture." Tip 4: Your results can ...

  19. Extracolonic Manifestations of Lynch Syndrome

    PubMed Central

    Bansidhar, Brian J.

    2012-01-01

    Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolonic malignancies and alternative genetic pathways gives new insight into the true prevalence and penetrance of Lynch syndrome. PMID:23730225

  20. Optic disc dysplasia in poland syndrome.

    PubMed

    Maxfield, Steven D; Strominger, Mitchell B

    2014-06-01

    To report optic disc dysplasia in a case of Poland syndrome. Non-interventional case report. A 2-year-old boy with Poland syndrome was referred for ophthalmic evaluation after abnormal optic discs were found on exam. Physical exam at birth revealed right-sided aplasia of the pectoralis major muscle, symbrachydactyly, hypoplastic scapula, and an abnormal third rib. On dilated examination the optic nerve heads were dysplastic. The findings included multiple cilioretinal vessels, situs inversus, inferotemporal excavation, and surrounding pigmentary disturbances. Only one case of optic disc anomaly has been reported in Poland syndrome and was described as morning glory syndrome. The optic discs in our patient do not fit well with other optic disc excavation syndromes but are most reminiscent of those in papillorenal syndrome. As both Poland syndrome and papillorenal syndrome share vascular dysfunction as a possible etiology, this case adds to the literature of vascular dysgenesis in Poland syndrome.

  1. Case report of a patient with 'one-and-a-half plus syndrome: nine syndrome'.

    PubMed

    Uthman, Muhammad; Kamran, Mehreen

    2018-01-01

    This case talks about 'One-and-a-half plus syndrome', a clinical syndrome affecting binocular vision and facial nerve. One-and-a-half plus syndrome is a less known clinical syndrome which constitutes of a conjugate horizontal gaze palsy in one direction and an internuclear ophthalmoplegia in the other direction. Despite the known association between ischemia, autoimmune disorders, multiple sclerosis, with mono neuritis multiplex resulting in extra ocular movement disorder, one-and-a-half plus syndrome is rarely considered in the differential diagnosis of eye ball movement disorders, as many clinicians are not able to diagnose such a case as ' the eyes don't see what the mind doesn't know'. Our report aims to raise awareness about connective tissue disorders presenting as neuro-ophthalmological syndrome, as early recognition can accelerate diagnosis and decrease the morbidity.

  2. Multilayering of Calcium Aerosol-OT at the Mica/Water Interface Studied with Neutron Reflection: Formation of a Condensed Lamellar Phase at the CMC.

    PubMed

    Griffin, L R; Browning, K L; Lee, S Y; Skoda, M W A; Rogers, S; Clarke, S M

    2016-12-13

    Using specular neutron reflection, the adsorption of sodium and calcium salts of the surfactant bis(2-ethylhexyl) sulfosuccinate (Aerosol-OT or AOT) has been studied at the mica/water interface at concentrations between 0.1 and 2 CMC. The pH dependence of the adsorption was also probed. No evidence of the adsorption of Na(AOT) was found even at the critical micelle concentration (CMC) while the calcium salt was found to adsorb significantly at concentrations of 0.5 CMC and above. This interesting and somewhat unexpected finding demonstrates that counterion identity may be used to tune the adsorption of anionic surfactants on anionic surfaces. At the CMC, three condensed bilayers of Ca(AOT) 2 were adsorbed at pH 7 and 9 and four bilayers adsorbed at pH 4. Multilayering at the CMC of Ca(AOT) 2 on the mica surface is an unusual feature of this surfactant/surface combination. Only single bilayer adsorption has been observed at other surfaces at the CMC. We suggest this arises from the high charge density of mica which must provide an excellent template for the surfactant.

  3. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    PubMed

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  4. 4H Syndrome

    MedlinePlus

    ... syndrome? 4H syndrome is short for hypomyelination, hypogonadotropic hypogonadism and hypodontia. Hypomyelination means that there is lack ... myelin in the central nervous system. In hypogonadotropic hypogonadism, normal puberty development is absent because the central ...

  5. Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review.

    PubMed

    Fujii, Katsunori; Miyashita, Toshiyuki

    2014-10-01

    Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is an autosomal dominant neurocutaneous disease characterized by developmental anomalies such as palmar pits and rib anomaly, and tumorigenesis such as medulloblastoma and basal cell carcinoma. This syndrome is mainly caused by a mutation of PTCH1, a human homologue of Drosophila patched, including frameshift, missense, or nonsense mutations. Genotype-phenotype correlation has not been established. PTCH1 is a member of hedgehog signaling, which is a highly conserved pathway in vertebrates, composed of hedgehog, SMO, and GLI proteins as well as PTCH1. Given that hedgehog signaling regulates cell growth and development, disorder of this pathway gives rise to not only developmental anomalies but also diverse tumors such as those seen in Gorlin syndrome. We recently reported, for the first time, a nationwide survey of Gorlin syndrome in Japan, noting that the frequency was 1/235,800 in the Japanese population, and that the frequency of basal cell carcinomas was significantly lower in Japan than in the USA and Europe, suggesting that ethnicity and genetic background contribute to these differences. Given that many clinical trials using newly discovered molecular inhibitors are still ongoing, these agents should become the new therapeutic options for hedgehog pathway-dependent tumors in patients with or without Gorlin syndrome. © 2014 Japan Pediatric Society.

  6. Noonan syndrome - a new survey.

    PubMed

    Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

    2017-02-01

    Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

  7. Central Pain Syndrome

    MedlinePlus

    ... cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or ... cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or ...

  8. Thoracic Outlet Syndrome

    MedlinePlus

    ... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ...

  9. Os Trigonum Syndrome

    MedlinePlus

    ... usually triggered by an injury, such as an ankle sprain. The syndrome is also frequently caused by repeated ... other conditions, such as an Achilles tendon injury, ankle sprain or talus fracture. Diagnosis of os trigonum syndrome ...

  10. Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

    PubMed

    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

    2012-04-01

    Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score < 25. Awareness and detection of dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper

  11. Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?

    PubMed

    Webb, Katie M; Smith, Alisha J; Dansby, Linda M; Diskin, Charles J

    2015-06-01

    A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

  12. Kounis syndrome and ziprasidone.

    PubMed

    Hamera, Leonard; Khishfe, Basem F

    2017-03-01

    Kounis syndrome (KS), described by Kounis and Zavras in 1991, is the manifestation of an allergic reaction preceding and leading to an acute coronary syndrome (ACS). There are three variants of Kounis Syndrome. Here we describe a novel case report of a type 1 variant secondary to Ziprasidone. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Metabolic syndrome and risk of acute coronary syndromes in patients younger than 45 years of age.

    PubMed

    Milionis, Haralampos J; Kalantzi, Kallirroi J; Papathanasiou, Athanasios J; Kosovitsas, Athanasios A; Doumas, Michael T; Goudevenos, John A

    2007-06-01

    There is a paucity of data with regard to the association of the metabolic syndrome with cardiovascular risk in young adults. We investigated the association of the metabolic syndrome with acute coronary syndrome in adults aged 45 years or younger. A total of 136 consecutive patients (128 men and eight women; mean age, 41.2+/-3.7 years) presenting with a first-ever acute coronary syndrome, and 136 age-matched and sex-matched controls were evaluated. The diagnosis of the metabolic syndrome was established according to the Adult Treatment Panel III criteria. The prevalence of the metabolic syndrome was significantly higher in the patients' group compared with the control group (40.4 versus 23.5%; P=0.003). Multivariate logistic regression analysis showed that smoking, positive family history of premature coronary artery disease, and the metabolic syndrome were associated with odds ratios 4.46 (95% confidence interval, 2.30-8.66; P<0.001), 3.11 (95% confidence interval, 1.71-5.66; P<0.001), and 1.97 (95% confidence interval, 1.08-3.56; P=0.02) higher odds, respectively, of having an acute coronary syndrome, after taking into account the matching for age and sex and controlling for potential confounders. Moreover, a 10-mg/dl increase in total cholesterol was associated with 1.06 higher odds of having an acute coronary syndrome. Analysis of interaction showed that smoking and a positive family history of premature coronary artery disease in young individuals with metabolic syndrome had an incremental effect on the odds of suffering an acute coronary syndrome (odds ratio, 7.12; 95% confidence interval, 2.42-20.96; P<0.001). The metabolic syndrome is highly associated with acute coronary syndrome in patients younger than 45 years of age, indicating the need for early and intensive preventive measures.

  14. Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients.

    PubMed

    Bonanni, Paolo; Casellato, Susanna; Fabbro, Franco; Negrin, Susanna

    2017-10-01

    Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission. © 2017 Wiley Periodicals, Inc.

  15. Anterior horn syndrome: A rare manifestation of primary Sjögren's syndrome.

    PubMed

    Zahlane, Safaa; Louhab, Nissrine; El Mellakh, Meriem; Kissani, Najib

    2016-07-01

    The authors report an exceptional case of an anterior horn syndrome associated with Sjögren's syndrome in a 58-year-old patient with a flaccid tetraparesis revealed by asymmetric atrophy and diffuse fasciculations associated with xerostomia and xerophthalmia. The electroneuromyography objectified a diffuse anterior horn syndrome. The brain MRI and spinal cord were normal. Laboratory tests revealed positive anti-SSA and anti-SSB antibody. The salivary glands biopsy objectified lymphocytic sialadenitis grade 3 of Chisholm. The Schirmer's test was abnormally low. Diagnosis of anterior horn syndrome as part of Sjögren's syndrome was retained. The methylprednisolone bolus allowed partial clinical improvement after 12 months of evolution. Therefore, in patients with isolated anterior horn involvement, a correct diagnosis of the underlying SS is often delayed or overlooked entirely; in these instances, standard clinicoserological assessment is recommendable. Copyright © 2016 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  16. Lumbar dorsal ramus syndrome.

    PubMed

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  17. [Psychopharmacology and metabolic syndrome].

    PubMed

    Telles-Correia, Diogo; Guerreiro, Diogo F; Coentre, Ricardo; Coentre, Rui; Góis, C; Figueira, Luísa

    2008-01-01

    Metabolic Syndrome consists in a group of metabolic changes, being the most important problem insulin resistence. Other important components of this syndrome are abdominal obesity, hypertension and hyperlipidemia /hypercholestrolemia. It was demonstrated that psychiatric patients have a greater risk to develop metabolic syndrome with a prevalence of 41%. Prevalence of this syndrome in psychiatric male patients is 138% higher than in general population and in female patients 251% higher. Some of the factors that can explain this increase of metabolic risk in psychiatric patients are psychiatric drugs. We preformed a systematic review of literature published until June, 2007, by means of MEDLINE. Studies reviewed include clinical cases, reviews, analytic and observational studies. We selected 72 articles. Authors pretend to understand the mechanisms, by which, different psychiatric drugs can influence metabolic syndrome, and strategies for prevention of this situation.

  18. Cushing syndrome: update on testing.

    PubMed

    Raff, Hershel

    2015-03-01

    Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. [Clinical characteristics of Rett Syndrome].

    PubMed

    Abbes, Zeineb; Bouden, Asma; Halayem, Soumaya; Othman, Sami; Bechir Halayem, Mohamed

    2011-10-01

    Rett Syndrome is a neurodevelopmental disorder, one of the least commonly occurring autism spectrum disorders (ASD),affecting mainly females. To describe features and molecular specificities of Rett syndrome. To identify articles for this review, a Pubmed search was conducted using the following keywords: Rett syndrome, regression,mutation, stereotypes. This syndrome is characterized by cognitive impairment,communication dysfunction, stereotypic movement disorder, and growth failure. It is generally caused by mutations in the MECP2 gene. Rett Syndrome has a prevalence ranging from 10-20 000 females. Specific treatment is not available, but patients need a careful planning for long-term care, with multidisciplinary approaches.

  20. Poland's syndrome and military personnel.

    PubMed

    Phaltankar, P M; Langdon, J; Clasper, J

    2003-12-01

    We describe three cases of undiagnosed Poland's syndrome in Army personnel and discuss their fitness according to the PULHHEEMS system. This syndrome has variable clinical features that include unilateral chest wall and upper limb abnormalities. The syndrome is not hereditary and is of unknown origin. If the syndrome was diagnosed prior to enlistment the potential recruit would normally be graded P8, and unfit to enlist. However, these individuals had managed to pass routine medical examination as well as successfully complete basic training. The suitability of continuation in the army of personnel with Poland's syndrome is discussed.