WorldWideScience

Sample records for defining anatomoclinical syndromes

  1. Anatomoclinical changes in a dog subjected to whole-body irradiation followed four days later by a partial ileectomy

    International Nuclear Information System (INIS)

    Neveux, Y.; Deloince, R.; Dubos, M.; Drouet, J.; Nguyen, T.L.

    Various anatomoclinical changes observed in a dog subjected to gamma radiation at three doses (250, 300, 350 R) and to an ileectomy performed four days later, were described. A comparative study with a dog subjected to gamma radiation only, proved that radiation syndrome prognosis is increased by surgery. Pathological changes were evaluated as a function of radiation doses in hematopoietic organs (bone marrow, spleen, lymph nodes) and digestive tract (stomach, duodenum, small intestine, colon, liver) [fr

  2. Defining recovery in chronic fatigue syndrome: a critical review.

    Science.gov (United States)

    Adamowicz, Jenna L; Caikauskaite, Indre; Friedberg, Fred

    2014-11-01

    In chronic fatigue syndrome (CFS), the lack of consensus on how recovery should be defined or interpreted has generated controversy and confusion. The purpose of this paper was to systematically review, compare, and evaluate the definitions of recovery reported in the CFS literature and to make recommendations about the scope of recovery assessments. A search was done using the MEDLINE, PubMed, PsycINFO, CINAHL, and Cochrane databases for peer review papers that contained the search terms "chronic fatigue syndrome" and "recovery," "reversal," "remission," and/or "treatment response." From the 22 extracted studies, recovery was operationally defined by reference with one or more of these domains: (1) pre-morbid functioning; (2) both fatigue and function; (3) fatigue (or related symptoms) alone; (4) function alone; and/or (5) brief global assessment. Almost all of the studies measuring recovery in CFS did so differently. The brief global assessment was the most common outcome measure used to define recovery. Estimates of recovery ranged from 0 to 66 % in intervention studies and 2.6 to 62 % in naturalistic studies. Given that the term "recovery" was often based on limited assessments and less than full restoration of health, other more precise and accurate labels (e.g., clinically significant improvement) may be more appropriate and informative. In keeping with common understandings of the term recovery, we recommend a consistent definition that captures a broad-based return to health with assessments of both fatigue and function as well as the patient's perceptions of his/her recovery status.

  3. Phenotypes in defined genotypes including siblings with Usher syndrome.

    Science.gov (United States)

    Malm, Eva; Ponjavic, Vesna; Möller, Claes; Kimberling, William J; Andréasson, Sten

    2011-06-01

    To characterize visual function in defined genotypes including siblings with Usher syndrome. Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed. The patients' degree of visual handicap was evaluated by a questionnaire (ADL). Twelve of thirteen patients were genotyped as Usher 1B, 1D, 1F, 2A, 2C or 3A. In 12 of 13 patients examined with ERG the 30 Hz flickering light response revealed remaining cone function. In 3 of the patients with Usher type 1 mf ERG demonstrated a specific pattern, with a sharp distinction between the area with reduced function and the central area with remaining macular function and normal peak time. OCT demonstrated loss of foveal depression with distortion of the foveal architecture in the macula in all patients. The foveal thickness ranged from 159 to 384 µm and was not correlated to retinal function. Three siblings shared the same mutation for Usher 2C but in contrast to previous reports regarding this genotype, 1 of them diverged in phenotype with substantially normal visual fields, almost normal OCT and mf ERG findings, and only moderately reduced rod and cone function according to ERG. Evaluation of visual function comprising both the severity of the rod cone degeneration and the function in the macular region confirm phenotypical heterogeneity within siblings and between different genotypes of Usher syndrome.

  4. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

    DEFF Research Database (Denmark)

    Bygum, Anette; Westermark, Per; Brandrup, Flemming

    2008-01-01

    Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately aft...... in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period....

  5. Defining Moments in MMWR History: Toxic-Shock Syndrome -- 1980

    Centers for Disease Control (CDC) Podcasts

    In the late 1970s and early 1980s, an outbreak of a disease called Toxic Shock Syndrome made healthy women sick. CDC's disease detectives helped unravel the link between Toxic Shock Syndrome and high-absorbency tampons. MMWR was the first scientific publication to break the news of these cases. In this podcast, Dr. Kathy Shands, former chief of CDC's Toxic Shock Syndrome Task Force, recalls her experience working with state epidemiologists to identify the link between toxic shock syndrome and tampon use.

  6. Defining Moments in MMWR History: Toxic-Shock Syndrome -- 1980

    Centers for Disease Control (CDC) Podcasts

    2017-11-03

    In the late 1970s and early 1980s, an outbreak of a disease called Toxic Shock Syndrome made healthy women sick. CDC’s disease detectives helped unravel the link between Toxic Shock Syndrome and high-absorbency tampons. MMWR was the first scientific publication to break the news of these cases. In this podcast, Dr. Kathy Shands, former chief of CDC’s Toxic Shock Syndrome Task Force, recalls her experience working with state epidemiologists to identify the link between toxic shock syndrome and tampon use.  Created: 11/3/2017 by MMWR.   Date Released: 11/3/2017.

  7. Systemic inflammatory response syndrome criteria in defining severe sepsis.

    Science.gov (United States)

    Kaukonen, Kirsi-Maija; Bailey, Michael; Pilcher, David; Cooper, D Jamie; Bellomo, Rinaldo

    2015-04-23

    The consensus definition of severe sepsis requires suspected or proven infection, organ failure, and signs that meet two or more criteria for the systemic inflammatory response syndrome (SIRS). We aimed to test the sensitivity, face validity, and construct validity of this approach. We studied data from patients from 172 intensive care units in Australia and New Zealand from 2000 through 2013. We identified patients with infection and organ failure and categorized them according to whether they had signs meeting two or more SIRS criteria (SIRS-positive severe sepsis) or less than two SIRS criteria (SIRS-negative severe sepsis). We compared their characteristics and outcomes and assessed them for the presence of a step increase in the risk of death at a threshold of two SIRS criteria. Of 1,171,797 patients, a total of 109,663 had infection and organ failure. Among these, 96,385 patients (87.9%) had SIRS-positive severe sepsis and 13,278 (12.1%) had SIRS-negative severe sepsis. Over a period of 14 years, these groups had similar characteristics and changes in mortality (SIRS-positive group: from 36.1% [829 of 2296 patients] to 18.3% [2037 of 11,119], P<0.001; SIRS-negative group: from 27.7% [100 of 361] to 9.3% [122 of 1315], P<0.001). Moreover, this pattern remained similar after adjustment for baseline characteristics (odds ratio in the SIRS-positive group, 0.96; 95% confidence interval [CI], 0.96 to 0.97; odds ratio in the SIRS-negative group, 0.96; 95% CI, 0.94 to 0.98; P=0.12 for between-group difference). In the adjusted analysis, mortality increased linearly with each additional SIRS criterion (odds ratio for each additional criterion, 1.13; 95% CI, 1.11 to 1.15; P<0.001) without any transitional increase in risk at a threshold of two SIRS criteria. The need for two or more SIRS criteria to define severe sepsis excluded one in eight otherwise similar patients with infection, organ failure, and substantial mortality and failed to define a transition point in

  8. Defining functional classes of Barth syndrome mutation in humans

    NARCIS (Netherlands)

    Lu, Ya-Wen; Galbraith, Laura; Herndon, Jenny D.; Lu, Ya-Lin; Pras-Raves, Mia; Vervaart, Martin; van Kampen, Antoine; Luyf, Angela; Koehler, Carla M.; McCaffery, J. Michael; Gottlieb, Eyal; Vaz, Frederic M.; Claypool, Steven M.

    2016-01-01

    The X-linked disease Barth syndrome (BTHS) is caused by mutations in TAZ; TAZ is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin. To date, a detailed characterization of endogenous TAZ has only been performed in yeast. Further, why a

  9. Relationship between current level of immunodeficiency and non-acquired immunodeficiency syndrome-defining malignancies

    DEFF Research Database (Denmark)

    Reekie, Joanne; Kosa, Csaba; Engsig, Frederik

    2010-01-01

    In the combined antiretroviral therapy (cART) era, non-acquired immunodeficiency syndrome (AIDS)-defining malignancies account for more morbidity and mortality in human immunodeficiency virus-infected patients than AIDS-defining malignancies. However, conflicting data have been reported...

  10. Heterogeneity in chronic fatigue syndrome - empirically defined subgroups from the PACE trial.

    Science.gov (United States)

    Williams, T E; Chalder, T; Sharpe, M; White, P D

    2017-06-01

    Chronic fatigue syndrome is likely to be a heterogeneous condition. Previous studies have empirically defined subgroups using combinations of clinical and biological variables. We aimed to explore the heterogeneity of chronic fatigue syndrome. We used baseline data from the PACE trial, which included 640 participants with chronic fatigue syndrome. Variable reduction, using a combination of clinical knowledge and principal component analyses, produced a final dataset of 26 variables for 541 patients. Latent class analysis was then used to empirically define subgroups. The most statistically significant and clinically recognizable model comprised five subgroups. The largest, 'core' subgroup (33% of participants), had relatively low scores across all domains and good self-efficacy. A further three subgroups were defined by: the presence of mood disorders (21%); the presence of features of other functional somatic syndromes (such as fibromyalgia or irritable bowel syndrome) (21%); or by many symptoms - a group which combined features of both of the above (14%). The smallest 'avoidant-inactive' subgroup was characterized by physical inactivity, belief that symptoms were entirely physical in nature, and fear that they indicated harm (11%). Differences in the severity of fatigue and disability provided some discriminative validation of the subgroups. In addition to providing further evidence for the heterogeneity of chronic fatigue syndrome, the subgroups identified may aid future research into the important aetiological factors of specific subtypes of chronic fatigue syndrome and the development of more personalized treatment approaches.

  11. Pediatric nasopharyngeal carcinoma: Anatomo-clinic aspects, therapeutic results and progressive particularities

    International Nuclear Information System (INIS)

    Frikha, M.; Toumi, N.; Ghorbel, L.; Ben Salah, H.; Daoud, J.; Khabir, A.; Boudawara, T.; Karray, H.; Gargouri, R.; Ghorbel, A.

    2010-01-01

    Purpose We retrospectively analyzed anatomo-clinic, therapeutic and progressive particularities of 74 young patients (= 20 years) with nasopharyngeal carcinoma treated between 1993 and 2005. Patients and methods Initial work-up included a fiberoptic naso-fiberscopy with biopsy, computed tomography and/or MRI of nasopharynx and neck, chest X-ray, abdominal ultrasonography and bone scan. Patients were treated with either primary chemotherapy (epirubicin and cisplatin) followed by radiotherapy or concomitant radio chemotherapy (five fluorouracil and cisplatin). Radiotherapy was delivered to a total dose of 70 to 75 Gy to nasopharynx and involved cervical lymph nodes and 50 Gy to the remainder cervical areas. Results The median age was 16 years. Sixty-three percent of patients had undifferentiated tumors. Sixty-six percent had locally advanced tumor. With a median follow-up of 107 months, one patient presented a local relapse, 24 patients developed distant metastases with a median delay of 7 months. The 5 years overall survival and disease-free survival were 66 and 65 %. Late complications were dominated by dry mouth and endocrine disorders. Comments Pediatric nasopharyngeal carcinoma is characterized by an early metastatic diffusion. Local control is excellent but with severe late toxicities. New techniques of radiotherapy and new molecules of chemotherapy could improve these results. (authors)

  12. Are you better? A multi-centre study of patient-defined recovery from Complex Regional Pain Syndrome

    DEFF Research Database (Denmark)

    Llewellyn, A; McCabe, CS; Hibberd, Y

    2018-01-01

    Background: Complex Regional Pain Syndrome (CRPS) symptoms can significantly differ between patients, fluctuate over time, disappear or persist. This leads to problems in defining recovery and in evaluating the efficacy of therapeutic interventions. Objectives: To define recovery from the patient...

  13. The SAPHO syndrome: defining the radiologic spectrum of diseases comprising the syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sugimoto, H.; Tamura, K. [Department of Radiology, Jichi Medical School, 3311 Minamikawachi-machi, Kawachi-gun, Tochigi-ken, 329-04 (Japan); Fujii, T. [Department of Pathology, Jichi Medical School, 3311 Minamikawachi-machi, Kawachi-gun, Tochigi-ken, 329-04 (Japan)

    1998-06-02

    The objective of our study was to clarify the radiologic spectrum of disease entities belonging to the SAPHO syndrome (SAPHO being an acronym for synovitis, acne, pustulosis, hyperostosis, and osteitis). A retrospective analysis of radiologic data was undertaken to determine the relationship of the osteoarthritic changes seen in palmoplantar pustulosis (PPP, n = 179), acne (n = 3), psoriasis vulgaris (PsV, n = 355), generalized pustular psoriasis (GPP, n = 25), and chronic recurrent multifocal osteomyelitis (CRMO, n = 4). Osseous changes of PPP, acne, and CRMO overlap each other; 7 PPP, 2 acne, and 3 CRMO patients manifested stenocostoclavicular hyperostosis as well as hyperostosis of the spine, pelvis, and/or femur. These findings were not seen in either PsV or GPP patients. Thirteen PsV and 4 GPP patients had peripheral arthritis and/or symmetrical sacroiliitis, which were not observed in the PPP, acne, and CRMO patients. The PPP, acne, and CRMO patients may be grouped as belonging to the single disease entity, namely SAPHO syndrome. Our findings do not support the inclusion of PsV and GPP in the spectrum of this syndrome. (orig.) With 7 figs., 2 tabs., 30 refs.

  14. The SAPHO syndrome: defining the radiologic spectrum of diseases comprising the syndrome

    International Nuclear Information System (INIS)

    Sugimoto, H.; Tamura, K.; Fujii, T.

    1998-01-01

    The objective of our study was to clarify the radiologic spectrum of disease entities belonging to the SAPHO syndrome (SAPHO being an acronym for synovitis, acne, pustulosis, hyperostosis, and osteitis). A retrospective analysis of radiologic data was undertaken to determine the relationship of the osteoarthritic changes seen in palmoplantar pustulosis (PPP, n = 179), acne (n = 3), psoriasis vulgaris (PsV, n = 355), generalized pustular psoriasis (GPP, n = 25), and chronic recurrent multifocal osteomyelitis (CRMO, n = 4). Osseous changes of PPP, acne, and CRMO overlap each other; 7 PPP, 2 acne, and 3 CRMO patients manifested stenocostoclavicular hyperostosis as well as hyperostosis of the spine, pelvis, and/or femur. These findings were not seen in either PsV or GPP patients. Thirteen PsV and 4 GPP patients had peripheral arthritis and/or symmetrical sacroiliitis, which were not observed in the PPP, acne, and CRMO patients. The PPP, acne, and CRMO patients may be grouped as belonging to the single disease entity, namely SAPHO syndrome. Our findings do not support the inclusion of PsV and GPP in the spectrum of this syndrome. (orig.)

  15. The co registration of initial PET on the CT-radiotherapy reduces significantly the variabilities of anatomo-clinical target volume in the child hodgkin disease

    International Nuclear Information System (INIS)

    Metwally, H.; Blouet, A.; David, I.; Rives, M.; Izar, F.; Courbon, F.; Filleron, T.; Laprie, A.; Plat, G.; Vial, J.

    2009-01-01

    It exists a great interobserver variability for the anatomo-clinical target volume (C.T.V.) definition in children suffering of Hodgkin disease. In this study, the co-registration of the PET with F.D.G. on the planning computed tomography has significantly lead to a greater coherence in the clinical target volume definition. (N.C.)

  16. Cardiometabolic risk in polycystic ovary syndrome: a comparison of different approaches to defining the metabolic syndrome.

    Science.gov (United States)

    Cussons, Andrea J; Watts, Gerald F; Burke, Valerie; Shaw, Jonathan E; Zimmet, Paul Z; Stuckey, Bronwyn G A

    2008-10-01

    Polycystic ovary syndrome (PCOS) is associated with insulin resistance and features in common with the metabolic syndrome (MetS)--factors shown to predict cardiovascular risk and type 2 diabetes. We investigated the prevalence and characteristics of the MetS in PCOS by three definitions-World Health Organization (WHO), National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP-III) and International Diabetes Federation (IDF)--and compared that with the background population. Cross-sectional study of 168 women with PCOS and 883 age-matched controls from the Australian Diabetes, Obesity and Lifestyle (AusDiab) study. Prevalence of the MetS in PCOS subjects was 33% by WHO, 37% by NCEP-ATP-III and 40% by IDF criteria, compared with 10% by NCEP-ATP-III and 13% by IDF in controls (P 30 kg/m(2)), and higher but not significantly so in overweight (BMI 25-30 kg/m(2)) women (P = 0.052). Dehydroepiandrosterone sulphate was associated with a lower risk of the MetS--Odds ratio 0.86 (95% confidence interval, 0.77-0.97, P = 0.011). An approximate 4-fold increase in the prevalence of the MetS in women with PCOS compared with the general population, consistent with the proposed major role of insulin and obesity in the syndrome, implies greater risk of cardiometabolic disease in women with PCOS. However, this estimate is likely to vary according to PCOS definition, ethnicity and different aetiological pathways to PCOS.

  17. Human papillomavirus-associated cancers as acquired immunodeficiency syndrome defining illnesses

    Directory of Open Access Journals (Sweden)

    Shohreh Shahabi

    2013-04-01

    Full Text Available The Centers for Disease Control currently report cervical, vulvar, vaginal, anal and some head and neck cancers as human papillomavirus (HPV-associated cancers. Only cervical cancer is listed amongst acquired immunodeficiency syndrome (AIDS defining illnesses. All of these cancers may represent progression of the immunocompromised state with the inability to eradicate viral infection. This study reports the case of a 27-year old HIV positive female presenting with a persistent right vulvar exophytic lesion. High-risk HPV analysis and immunostaining for P16 were both positive. A biopsy of the lesion revealed invasive squamous cell carcinoma. The patient underwent neoadjuvant radiation and chemotherapy followed by a radical vulvectomy. During treatment, her CD4 T-lymphocyte count decreased to 120 advancing her condition from HIV to AIDS. This case suggests that all HPV-associated cancers should be included as AIDS defining illnesses.

  18. Correlated genetic effects on reproduction define a domestication syndrome in a forest tree

    Science.gov (United States)

    Santos-del-Blanco, Luis; Alía, Ricardo; González-Martínez, Santiago C; Sampedro, Luis; Lario, Francisco; Climent, José

    2015-01-01

    Compared to natural selection, domestication implies a dramatic change in traits linked to fitness. A number of traits conferring fitness in the wild might be detrimental under domestication, and domesticated species typically differ from their ancestors in a set of traits known as the domestication syndrome. Specifically, trade-offs between growth and reproduction are well established across the tree of life. According to allocation theory, selection for growth rate is expected to indirectly alter life-history reproductive traits, diverting resources from reproduction to growth. Here we tested this hypothesis by examining the genetic change and correlated responses of reproductive traits as a result of selection for timber yield in the tree Pinus pinaster. Phenotypic selection was carried out in a natural population, and progenies from selected trees were compared with those of control trees in a common garden experiment. According to expectations, we detected a genetic change in important life-history traits due to selection. Specifically, threshold sizes for reproduction were much higher and reproductive investment relative to size significantly lower in the selected progenies just after a single artificial selection event. Our study helps to define the domestication syndrome in exploited forest trees and shows that changes affecting developmental pathways are relevant in domestication processes of long-lived plants. PMID:25926884

  19. An Allelic Series of Trp63 Mutations Defines TAp63 as a Modifier of EEC Syndrome

    Science.gov (United States)

    Lindahl, Emma Vernersson; Garcia, Elvin L.; Mills, Alea A.

    2014-01-01

    Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in TP63, the genetic basis underlying the variable expressivity and incomplete penetrance of EEC is unknown. Here we show that mice heterozygous for an allele encoding the Trp63 p.Arg318His mutation, which corresponds to the human TP63 p.Arg279His mutation found in patients with EEC, have features of human EEC. Using an allelic series, we discovered that whereas clefting and skin defects are caused by loss of Trp63 function, limb anomalies are due to gain- and/or dominant-negative effects of Trp63. Furthermore, we identify TAp63 as a strong modifier of EEC-associated phenotypes with regard to both penetrance and expressivity. PMID:23775923

  20. "Prince Charming Syndrome?" Gender gap in preferences for defined contribution pensions in Japan.

    Science.gov (United States)

    Watanabe, Satoshi P

    2017-01-01

    Using survey data collected by the Japan Institute of Life Insurance in 2002, this study finds that a significant gender gap existed in defined contribution (DC) pension knowledge among workers employed at small- to medium-sized private firms in Japan. Even with similar DC knowledge, however, men and women reveal different preferences for DC pensions, indicating that their perceptional responses may widely differ from actual behaviors. Apart from the knowledge gap, the result shows evidence of the Prince Charming Syndrome among female employees as a significant source of the gender gap in DC participation rates. Among corporate pension-covered employees, the gender difference in the efficacy of DC portability is a more significant gap-generating factor. DC tax advantage is particularly favored by pension-covered female employees over male counterparts, reducing the DC preference gap. No similar evidence is found for employees with no corporate pension coverage.

  1. Temporal organization of rest defined by actigraphy data in healthy and childhood chronic fatigue syndrome children.

    Science.gov (United States)

    Kawabata, Minako; Ueno, Taro; Tomita, Jun; Kawatani, Junko; Tomoda, Akemi; Kume, Shoen; Kume, Kazuhiko

    2013-11-04

    Accumulating evidence has shown a universality in the temporal organization of activity and rest among animals ranging from mammals to insects. Previous reports in both humans and mice showed that rest bout durations followed long-tailed (i.e., power-law) distributions, whereas activity bouts followed exponential distributions. We confirmed similar results in the fruit fly, Drosophila melanogaster. Conversely, another report showed that the awakening bout durations, which were defined by polysomnography in bed, followed power-law distributions, while sleeping periods, which may correspond to rest, followed exponential distributions. This apparent discrepancy has been left to be resolved. Actigraphy data from healthy and disordered children were analyzed separately for two periods: time out of bed (UP period) and time in bed (DOWN period). When data over a period of 24 h were analyzed as a whole, rest bouts showed a power law distribution as previously reported. However, when UP and DOWN period data were analyzed separately, neither showed power law properties. Using a newly developed strict method, only 30% of individuals satisfied the power law criteria, even when the 24 h data were analyzed. The human results were in contrast to the Drosophila results, which revealed clear power-law distributions for both day time and night time rest through the use of a strict method. In addition, we analyzed the actigraphy data from patients with childhood type chronic fatigue syndrome (CCFS), and found that they showed differences from healthy controls when their UP and DOWN data were analyzed separately. These results suggested that the DOWN sleep, the bout distribution of which showed exponential properties, contributes to the production of long-tail distributions in human rest periods. We propose that separate analysis of UP and DOWN period data is important for understanding the temporal organization of activity.

  2. Mathematical Learning Disability in Girls with Turner Syndrome: A Challenge to Defining MLD and Its Subtypes

    Science.gov (United States)

    Mazzocco, Michele M. M.

    2009-01-01

    Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the…

  3. Carbohydrate restriction improves the features of Metabolic Syndrome. Metabolic Syndrome may be defined by the response to carbohydrate restriction.

    Science.gov (United States)

    Volek, Jeff S; Feinman, Richard D

    2005-11-16

    Metabolic Syndrome (MetS) represents a constellation of markers that indicates a predisposition to diabetes, cardiovascular disease and other pathologic states. The definition and treatment are a matter of current debate and there is not general agreement on a precise definition or, to some extent, whether the designation provides more information than the individual components. We consider here five indicators that are central to most definitions and we provide evidence from the literature that these are precisely the symptoms that respond to reduction in dietary carbohydrate (CHO). Carbohydrate restriction is one of several strategies for reducing body mass but even in the absence of weight loss or in comparison with low fat alternatives, CHO restriction is effective at ameliorating high fasting glucose and insulin, high plasma triglycerides (TAG), low HDL and high blood pressure. In addition, low fat, high CHO diets have long been known to raise TAG, lower HDL and, in the absence of weight loss, may worsen glycemic control. Thus, whereas there are numerous strategies for weight loss, a patient with high BMI and high TAG is likely to benefit most from a regimen that reduces CHO intake. Reviewing the literature, benefits of CHO restriction are seen in normal or overweight individuals, in normal patients who meet the criteria for MetS or in patients with frank diabetes. Moreover, in low fat studies that ameliorate LDL and total cholesterol, controls may do better on the symptoms of MetS. On this basis, we feel that MetS is a meaningful, useful phenomenon and may, in fact, be operationally defined as the set of markers that responds to CHO restriction. Insofar as this is an accurate characterization it is likely the result of the effect of dietary CHO on insulin metabolism. Glucose is the major insulin secretagogue and insulin resistance has been tied to the hyperinsulinemic state or the effect of such a state on lipid metabolism. The conclusion is probably not

  4. Carbohydrate restriction improves the features of Metabolic Syndrome. Metabolic Syndrome may be defined by the response to carbohydrate restriction

    Directory of Open Access Journals (Sweden)

    Feinman Richard D

    2005-11-01

    Full Text Available Abstract Metabolic Syndrome (MetS represents a constellation of markers that indicates a predisposition to diabetes, cardiovascular disease and other pathologic states. The definition and treatment are a matter of current debate and there is not general agreement on a precise definition or, to some extent, whether the designation provides more information than the individual components. We consider here five indicators that are central to most definitions and we provide evidence from the literature that these are precisely the symptoms that respond to reduction in dietary carbohydrate (CHO. Carbohydrate restriction is one of several strategies for reducing body mass but even in the absence of weight loss or in comparison with low fat alternatives, CHO restriction is effective at ameliorating high fasting glucose and insulin, high plasma triglycerides (TAG, low HDL and high blood pressure. In addition, low fat, high CHO diets have long been known to raise TAG, lower HDL and, in the absence of weight loss, may worsen glycemic control. Thus, whereas there are numerous strategies for weight loss, a patient with high BMI and high TAG is likely to benefit most from a regimen that reduces CHO intake. Reviewing the literature, benefits of CHO restriction are seen in normal or overweight individuals, in normal patients who meet the criteria for MetS or in patients with frank diabetes. Moreover, in low fat studies that ameliorate LDL and total cholesterol, controls may do better on the symptoms of MetS. On this basis, we feel that MetS is a meaningful, useful phenomenon and may, in fact, be operationally defined as the set of markers that responds to CHO restriction. Insofar as this is an accurate characterization it is likely the result of the effect of dietary CHO on insulin metabolism. Glucose is the major insulin secretagogue and insulin resistance has been tied to the hyperinsulinemic state or the effect of such a state on lipid metabolism. The

  5. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

    DEFF Research Database (Denmark)

    Novara, Francesca; Stanzial, Franco; Rossi, Elena

    2014-01-01

    NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35...

  6. Defining syndromes using cattle meat inspection data for syndromic surveillance purposes: a statistical approach with the 2005-2010 data from ten French slaughterhouses.

    Science.gov (United States)

    Dupuy, Céline; Morignat, Eric; Maugey, Xavier; Vinard, Jean-Luc; Hendrikx, Pascal; Ducrot, Christian; Calavas, Didier; Gay, Emilie

    2013-04-30

    The slaughterhouse is a central processing point for food animals and thus a source of both demographic data (age, breed, sex) and health-related data (reason for condemnation and condemned portions) that are not available through other sources. Using these data for syndromic surveillance is therefore tempting. However many possible reasons for condemnation and condemned portions exist, making the definition of relevant syndromes challenging.The objective of this study was to determine a typology of cattle with at least one portion of the carcass condemned in order to define syndromes. Multiple factor analysis (MFA) in combination with clustering methods was performed using both health-related data and demographic data. Analyses were performed on 381,186 cattle with at least one portion of the carcass condemned among the 1,937,917 cattle slaughtered in ten French abattoirs. Results of the MFA and clustering methods led to 12 clusters considered as stable according to year of slaughter and slaughterhouse. One cluster was specific to a disease of public health importance (cysticercosis). Two clusters were linked to the slaughtering process (fecal contamination of heart or lungs and deterioration lesions). Two clusters respectively characterized by chronic liver lesions and chronic peritonitis could be linked to diseases of economic importance to farmers. Three clusters could be linked respectively to reticulo-pericarditis, fatty liver syndrome and farmer's lung syndrome, which are related to both diseases of economic importance to farmers and herd management issues. Three clusters respectively characterized by arthritis, myopathy and Dark Firm Dry (DFD) meat could notably be linked to animal welfare issues. Finally, one cluster, characterized by bronchopneumonia, could be linked to both animal health and herd management issues. The statistical approach of combining multiple factor analysis with cluster analysis showed its relevance for the detection of syndromes

  7. Positions statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an Androgen Excess Society guideline.

    Science.gov (United States)

    Azziz, Ricardo; Carmina, Enrico; Dewailly, Didier; Diamanti-Kandarakis, Evanthia; Escobar-Morreale, Hector F; Futterweit, Walter; Janssen, Onno E; Legro, Richard S; Norman, Robert J; Taylor, Ann E; Witchel, Selma F

    2006-11-01

    The Androgen Excess Society (AES) charged a task force to review all available data and recommend an evidence-based definition for polycystic ovary syndrome (PCOS), whether already in use or not, to guide clinical diagnosis and future research. Participants included expert investigators in the field. Based on a systematic review of the published peer-reviewed medical literature, by querying MEDLINE databases, we tried to identify studies evaluating the epidemiology or phenotypic aspects of PCOS. The task force drafted the initial report, following a consensus process via electronic communication, which was then reviewed and critiqued by the AES Board of Directors. No section was finalized until all members were satisfied with the contents and minority opinions noted. Statements that were not supported by peer-reviewed evidence were not included. Based on the available data, it is the view of the AES Task Force on the Phenotype of PCOS that there should be acceptance of the original 1990 National Institutes of Health criteria with some modifications, taking into consideration the concerns expressed in the proceedings of the 2003 Rotterdam conference. A principal conclusion was that PCOS should be first considered a disorder of androgen excess or hyperandrogenism, although a minority considered the possibility that there may be forms of PCOS without overt evidence of hyperandrogenism but recognized that more data are required before validating this supposition. Finally, the task force recognized, and fully expects, that the definition of this syndrome will evolve over time to incorporate new research findings.

  8. CAGE-defined promoter regions of the genes implicated in Rett Syndrome

    DEFF Research Database (Denmark)

    Vitezic, Morana; Bertin, Nicolas; Andersson, Robin

    2014-01-01

    BACKGROUND: Mutations in three functionally diverse genes cause Rett Syndrome. Although the functions of Forkhead box G1 (FOXG1), Methyl CpG binding protein 2 (MECP2) and Cyclin-dependent kinase-like 5 (CDKL5) have been studied individually, not much is known about their relation to each other...... reveal the predominantly used transcription start sites (TSSs) for each gene including novel transcription start sites for FOXG1. We show that FOXG1 expression is poorly correlated with the expression of MECP2 and CDKL5. We identify promoter shapes for each TSS, the predicted location of enhancers...

  9. Defining acute aortic syndrome after trauma: Are Abbreviated Injury Scale codes a useful surrogate descriptor?

    Science.gov (United States)

    Leach, R; McNally, Donal; Bashir, Mohamad; Sastry, Priya; Cuerden, Richard; Richens, David; Field, Mark

    2012-10-01

    The severity and location of injuries resulting from vehicular collisions are normally recorded in Abbreviated Injury Scale (AIS) code; we propose a system to link AIS code to a description of acute aortic syndrome (AAS), thus allowing the hypothesis that aortic injury is progressive with collision kinematics to be tested. Standard AIS codes were matched with a clinical description of AAS. A total of 199 collisions that resulted in aortic injury were extracted from a national automotive collision database and the outcomes mapped onto AAS descriptions. The severity of aortic injury (AIS severity score) and stage of AAS progression were compared with collision kinematics and occupant demographics. Post hoc power analyses were used to estimate maximum effect size. The general demographic distribution of the sample represented that of the UK population in regard to sex and age. No significant relationship was observed between estimated test speed, collision direction, occupant location or seat belt use and clinical progression of aortic injury (once initiated). Power analysis confirmed that a suitable sample size was used to observe a medium effect in most of the cases. Similarly, no association was observed between injury severity and collision kinematics. There is sufficient information on AIS severity and location codes to map onto the clinical AAS spectrum. It was not possible, with this data set, to consider the influence of collision kinematics on aortic injury initiation. However, it was demonstrated that after initiation, further progression along the AAS pathway was not influenced by collision kinematics. This might be because the injury is not progressive, because the vehicle kinematics studied do not fully represent the kinematics of the occupants, or because an unknown factor, such as stage of cardiac cycle, dominates. Epidemiologic/prognostic study, level IV.

  10. An examination of the prevalence of IDF- and ATPIII-defined metabolic syndrome in an Irish screening population.

    LENUS (Irish Health Repository)

    Waterhouse, D F

    2012-02-01

    OBJECTIVES: To investigate the prevalence of ATPIII- and IDF-defined metabolic syndrome (MetS) in an Irish screening population and to determine the calculated cardiovascular risk for each group. DESIGN: A total of 1,716 subjects were enrolled over a 12-month period. MAIN OUTCOMES: The ATPIII-defined prevalence of MetS in this population was 13.2%. Using IDF criteria, 21.4% of subjects were identified as having the MetS. Correlation between the two definitions was high; however, IDF criteria identified an additional 9.5% (n = 164) of the population as having MetS, which ATPIII criteria failed to recognise. CONCLUSION: We noted a higher prevalence of MetS in the studied population when defined by IDF criteria. However, those identified by IDF and not by ATPIII definition did not have a higher cardiovascular risk score by either Framingham or European Score than those without MetS. Thus, application of the ATPIII definition of MetS, may be the more practical.

  11. Defining constant versus variable phenotypic features of women with polycystic ovary syndrome using different ethnic groups and populations.

    Science.gov (United States)

    Welt, C K; Arason, G; Gudmundsson, J A; Adams, J; Palsdóttir, H; Gudlaugsdóttir, G; Ingadóttir, G; Crowley, W F

    2006-11-01

    The phenotype of women with polycystic ovary syndrome (PCOS) is variable, depending on the ethnic background. The phenotypes of women with PCOS in Iceland and Boston were compared. The study was observational with a parallel design. Subjects were studied in an outpatient setting. Women, aged 18-45 yr, with PCOS defined by hyperandrogenism and fewer than nine menses per year, were examined in Iceland (n = 105) and Boston (n = 262). PCOS subjects underwent a physical exam, fasting blood samples for androgens, gonadotropins, metabolic parameters, and a transvaginal ultrasound. The phenotype of women with PCOS was compared between Caucasian women in Iceland and Boston and among Caucasian, African-American, Hispanic, and Asian women in Boston. Androstenedione (4.0 +/- 1.3 vs. 3.5 +/- 1.2 ng/ml; P PCOS. There were no differences in fasting blood glucose, insulin, or homeostasis model assessment in body mass index-matched Caucasian subjects from Iceland or Boston or in different ethnic groups in Boston. Polycystic ovary morphology was demonstrated in 93-100% of women with PCOS in all ethnic groups. The data demonstrate differences in the reproductive features of PCOS without differences in glucose and insulin in body mass index-matched populations. These studies also suggest that measuring androstenedione is important for the documentation of hyperandrogenism in Icelandic women. Finally, polycystic ovary morphology by ultrasound is an almost universal finding in women with PCOS as defined by hyperandrogenism and irregular menses.

  12. Defining surgical criteria for empty nose syndrome: Validation of the office-based cotton test and clinical interpretability of the validated Empty Nose Syndrome 6-Item Questionnaire.

    Science.gov (United States)

    Thamboo, Andrew; Velasquez, Nathalia; Habib, Al-Rahim R; Zarabanda, David; Paknezhad, Hassan; Nayak, Jayakar V

    2017-08-01

    The validated Empty Nose Syndrome 6-Item Questionnaire (ENS6Q) identifies empty nose syndrome (ENS) patients. The unvalidated cotton test assesses improvement in ENS-related symptoms. By first validating the cotton test using the ENS6Q, we define the minimal clinically important difference (MCID) score for the ENS6Q. Individual case-control study. Fifteen patients diagnosed with ENS and 18 controls with non-ENS sinonasal conditions underwent office cotton placement. Both groups completed ENS6Q testing in three conditions-precotton, cotton in situ, and postcotton-to measure the reproducibility of ENS6Q scoring. Participants also completed a five-item transition scale ranging from "much better" to "much worse" to rate subjective changes in nasal breathing with and without cotton placement. Mean changes for each transition point, and the ENS6Q MCID, were then calculated. In the precotton condition, significant differences (P < .001) in all ENS6Q questions between ENS and controls were noted. With cotton in situ, nearly all prior ENS6Q differences normalized between ENS and control patients. For ENS patients, the changes in the mean differences between the precotton and cotton in situ conditions compared to postcotton versus cotton in situ conditions were insignificant among individuals. Including all 33 participants, the mean change in the ENS6Q between the parameters "a little better" and "about the same" was 4.25 (standard deviation [SD] = 5.79) and -2.00 (SD = 3.70), giving an MCID of 6.25. Cotton testing is a validated office test to assess for ENS patients. Cotton testing also helped to determine the MCID of the ENS6Q, which is a 7-point change from the baseline ENS6Q score. 3b. Laryngoscope, 127:1746-1752, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  13. The co-occurrence of Hashimoto thyroiditis in primary Sjogren's syndrome defines a subset of patients with milder clinical phenotype.

    Science.gov (United States)

    Caramaschi, Paola; Biasi, Domenico; Caimmi, Cristian; Scambi, Cinzia; Pieropan, Sara; Barausse, Giovanni; Adami, Silvano

    2013-05-01

    To evaluate in a cohort of 100 consecutive patients affected by primary Sjogren's syndrome (pSS) the incidence of Hashimoto thyroiditis (HT) and to compare the clinical features and the laboratory parameters of patients affected by pSS with and without concomitant HT. In 100 consecutive patients affected by pSS, the occurrence of other autoimmune diseases was recorded and a full examination of thyroid function obtained. HT was associated with pSS in 27 cases. The comparison between pSS cases with and without HT showed that only patients with isolated pSS had low C4 level [p = 0.032, OR (IC 95 %) 230 (13.13-4,046)]. In addition, only patients affected by pSS without HT had evidence of cryoglobulins, cutaneous vasculitis with palpable purpura, peripheral neuropathy, and development of lymphoma, although all these manifestations were observed in a 4.1-8.2 % of the cases, without reaching statistical significance. The association of HT in patients suffering from pSS defines a subset of patients with milder disease and normal C4 levels.

  14. Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

    Directory of Open Access Journals (Sweden)

    Marcella Zollino

    2017-10-01

    Full Text Available Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15–30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR family and the interconnected molecular pathways in most cases. However it can occur in association with other gene variants and with a variety of chromosome abnormalities as well, usually in association with intellectual disability (ID and additional physical anomalies. Evaluating the molecular properties of the genes undergoing intragenic mutations or copy number variations (CNVs along with prevalence of craniosynostosis in different conditions and animal models if available, we made an attempt to define two distinct groups of unusual syndromic craniosynostosis, which can reflect direct effects of emerging new candidate genes with roles in suture homeostasis or a non-specific phenotypic manifestation of pleiotropic genes, respectively. RASopathies and 9p23p22.3 deletions are reviewed as examples of conditions in the first group. In particular, we found that craniosynostosis is a relatively common component manifestation of cardio-facio-cutaneous (CFC syndrome. Chromatinopathies and neurocristopathies are presented as examples of conditions in the second group. We observed that craniosynostosis is uncommon on average in these conditions. It was randomly associated with Kabuki, Koolen-de Vries/KANSL1 haploinsufficiency and Mowat–Wilson syndromes and in KAT6B-related disorders. As an exception, trigonocephaly in Bohring-Opitz syndrome reflects specific molecular properties of the chromatin modifier ASXL1 gene. Surveillance for craniosynostosis in syndromic forms of

  15. The co registration of initial PET on the CT-radiotherapy reduces significantly the variabilities of anatomo-clinical target volume in the child hodgkin disease; La coregistration de la TEP initiale sur la scanographie de radiotherapie diminue significativement les variabilites de volume cible anatomoclinique dans la maladie de Hodgkin de l'enfant

    Energy Technology Data Exchange (ETDEWEB)

    Metwally, H.; Blouet, A.; David, I.; Rives, M.; Izar, F.; Courbon, F.; Filleron, T.; Laprie, A. [Institut Claudius-Regaud, 31 - Toulouse (France); Plat, G.; Vial, J. [CHU-hopital des Enfants, 31 - Toulouse (France)

    2009-10-15

    It exists a great interobserver variability for the anatomo-clinical target volume (C.T.V.) definition in children suffering of Hodgkin disease. In this study, the co-registration of the PET with F.D.G. on the planning computed tomography has significantly lead to a greater coherence in the clinical target volume definition. (N.C.)

  16. Isometric and isokinetic muscle strength in patients with fibrositis syndrome. New characteristics for a difficult definable category of patients

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Danneskiold-Samsøe, B

    1987-01-01

    A common complaint among patients with fibrositis syndrome is exhaustion and fatique. It was therefore felt desirable to evaluate the muscle strength of these patients compared with normal subjects. Maximum isometric and isokinetic strength of knee extension was measured in 15 patients and 15...... healthy matched subjects, using an isokinetic dynamometer (Cybex II). Maximum isometric strength at various knee extension angles (90 degrees, 60 degrees and 30 degrees degrees) was significantly (p less than 0.001) lower in the fibrositis group than in controls, a reduction of approximately 58......-66%. Maximum isokinetic strength at various knee extension velocities (30-240 degrees per second) was also significantly (p less than 0.01) lower in the fibrositis group than in controls, the reduction being approximately 41-51%. In conclusion, isometric and isokinetic muscle strength is found to be lower...

  17. Characterizing discrete subsets of polycystic ovary syndrome as defined by the Rotterdam criteria: the impact of weight on phenotype and metabolic features.

    Science.gov (United States)

    Welt, C K; Gudmundsson, J A; Arason, G; Adams, J; Palsdottir, H; Gudlaugsdottir, G; Ingadottir, G; Crowley, W F

    2006-12-01

    The Rotterdam criteria for polycystic ovary syndrome (PCOS) defines discrete subgroups whose phenotypes are not yet clear. The phenotypic characteristics of women in the PCOS subgroups defined by the Rotterdam criteria were compared. The study was observational. Subjects were studied in an outpatient setting in Boston and Reykjavik. Four subgroups of subjects with PCOS defined by 1) irregular menses (IM), hyperandrogenism (HA), and polycystic ovary morphology (PCOM, n = 298); 2) IM/HA (n = 7); 3) HA/PCOM (n = 77); and 4) IM/PCOM (n = 36) and a group of controls (n = 64), aged 18-45 yr, were examined. Subjects underwent a physical exam; fasting blood samples for androgens, gonadotropins, and metabolic parameters; and a transvaginal ultrasound. The phenotype was compared between groups. Ninety-seven percent of women with IM/HA had PCOM. Therefore, the groups with and without PCOM were combined. The Ferriman-Gallwey score and androgen levels were highest in the hyperandrogenic groups (IM/HA and HA/PCOM), whereas ovarian volume was higher in all PCOS subgroups compared with controls, as expected based on the definitions of the PCOS subgroups. Body mass index and insulin levels were highest in the IM/HA subgroup. Subjects with PCOS defined by IM/HA are the most severely affected women on the basis of androgen levels, ovarian volumes, and insulin levels. Their higher body mass index partially accounts for the increased insulin levels, suggesting that weight gain exacerbates the symptoms of PCOS.

  18. Diagnostic strategies using physical examination are minimally useful in defining carpal tunnel syndrome in population-based research studies.

    Science.gov (United States)

    Descatha, A; Dale, A-M; Franzblau, A; Coomes, J; Evanoff, B

    2010-02-01

    We evaluated the utility of physical examination manoeuvres in the prediction of carpal tunnel syndrome (CTS) in a population-based research study. We studied a cohort of 1108 newly employed workers in several industries. Each worker completed a symptom questionnaire, a structured physical examination and nerve conduction study. For each hand, our CTS case definition required both median nerve conduction abnormality and symptoms classified as "classic" or "probable" on a hand diagram. We calculated the positive predictive values and likelihood ratios for physical examination manoeuvres in subjects with and without symptoms. The prevalence of CTS in our cohort was 1.2% for the right hand and 1.0% for the left hand. The likelihood ratios of a positive test for physical provocative tests ranged from 2.0 to 3.3, and those of a negative test from 0.3 to 0.9. The post-test probability of positive testing was study found that physical examination, alone or in combination with symptoms, was not predictive of CTS in a working population. We suggest using specific symptoms as a first-level screening tool, and nerve conduction study as a confirmatory test, as a case definition strategy in research settings.

  19. Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

    Directory of Open Access Journals (Sweden)

    Yanqun Liu

    Full Text Available BACKGROUND: Germline defects of mismatch repair (MMR genes underlie Lynch Syndrome (LS. We aimed to gain comprehensive genetic and epigenetic profiles of LS families in Singapore, which will facilitate efficient molecular diagnosis of LS in Singapore and the region. METHODS: Fifty nine unrelated families were studied. Mutations in exons, splice-site junctions and promoters of five MMR genes were scanned by high resolution melting assay followed by DNA sequencing, large fragment deletions/duplications and promoter methylation in MLH1, MSH2, MSH6 and PMS2 were evaluated by multiplex ligation-dependent probe amplification. Tumor microsatellite instability (MSI was assessed with five mononucleotide markers and immunohistochemical staining (IHC was also performed. RESULTS: Pathogenic defects, all confined to MLH1 and MSH2, were identified in 17 out of 59 (28.8% families. The mutational spectrum was highly heterogeneous and 28 novel variants were identified. One recurrent mutation in MLH1 (c.793C>T was also observed. 92.9% sensitivity for indication of germline mutations conferred by IHC surpassed 64.3% sensitivity by MSI. Furthermore, 15.6% patients with MSS tumors harbored pathogenic mutations. CONCLUSIONS: Among major ethnic groups in Singapore, all pathogenic germline defects were confined to MLH1 and MSH2. Caution should be applied when the Amsterdam criteria and consensus microsatellite marker panel recommended in the revised Bethesda guidelines are applied to the local context. We recommend a screening strategy for the local LS by starting with tumor IHC and the hotspot mutation testing at MLH1 c.793C>T followed by comprehensive mutation scanning in MLH1 and MSH2 prior to proceeding to other MMR genes.

  20. Utility of the modified ATP III defined metabolic syndrome and severe obesity as predictors of insulin resistance in overweight children and adolescents: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Agarwalla Vipin

    2007-02-01

    Full Text Available Abstract Background The rising prevalence of obesity and metabolic syndrome (MetS has received increased attention since both place individuals at risk for Type II diabetes and cardiovascular disease. Insulin resistance (IR has been implicated in the pathogenesis of obesity and MetS in both children and adults and is a known independent cardiovascular risk factor. However measures of IR are not routinely performed in children while MetS or severe obesity when present, are considered as clinical markers for IR. Objective The study was undertaken to assess the utility of ATPIII defined metabolic syndrome (MetS and severe obesity as predictors of insulin resistance (IR in a group of 576 overweight children and adolescents attending a pediatric obesity clinic in Brooklyn. Methods Inclusion criteria were children ages 3–19, and body mass index > 95th percentile for age. MetS was defined using ATP III criteria, modified for age. IR was defined as upper tertile of homeostasis model assessment (HOMA within 3 age groups (3–8, n = 122; 9–11, n = 164; 12–19, n = 290. Sensitivity, specificity, positive predictive values and odds ratios (OR with 95% confidence intervals (CI were calculated within age groups for predicting IR using MetS and severe obesity respectively. Results MetS was present in 45%, 48% and 42% of the respective age groups and significantly predicted IR only in the oldest group (OR = 2.0, 95% CI 1.2, 3.4; p = .006. Sensitivities were Conclusion The expression of IR in overweight children and adolescents is heterogeneous and MetS or severe obesity may not be sufficiently sensitive and specific indicators of insulin resistance. In addition to screening for MetS in overweight children markers for IR should be routinely performed. Further research is needed to establish threshold values of insulin measures in overweight children who may be at greater associated risk of adverse outcomes whether or not MetS is present.

  1. Association of a culturally defined syndrome (nervios) with chest pain and DSM-IV affective disorders in Hispanic patients referred for cardiac stress testing.

    Science.gov (United States)

    Pavlik, Valory N; Hyman, David J; Wendt, Juliet A; Orengo, Claudia

    2004-01-01

    Hispanics have a high prevalence of cardiovascular risk factors, most notably type 2 diabetes. However, in a large public hospital in Houston, Texas, Hispanic patients referred for cardiac stress testing were significantly more likely to have normal test results than were Whites or non-Hispanic Blacks. We undertook an exploratory study to determine if nervios, a culturally based syndrome that shares similarities with both panic disorder and anginal symptoms, is sufficiently prevalent among Hispanics referred for cardiac testing to be considered as a possible explanation for the high probability of a normal test result. Hispanic patients were recruited consecutively when they presented for a cardiac stress test. A bilingual interviewer administered a brief medical history, the Rose Angina Questionnaire (RAQ), a questionnaire to assess a history of nervios and associated symptoms, and the PRIME-MD, a validated brief questionnaire to diagnose DSM-IV defined affective disorders. The average age of the 114 participants (38 men and 76 women) was 57 years, and the average educational attainment was 7 years. Overall, 50% of participants reported a history of chronic nervios, and 14% reported an acute subtype known as ataque de nervios. Only 2% of patients had DSM-IV defined panic disorder, and 59% of patients had a positive RAQ score (ie, Rose questionnaire angina). The acute subtype, ataque de nervios, but not chronic nervios, was related to an increased probability of having Rose questionnaire angina (P=.006). Adjusted for covariates, a positive history of chronic nervios, but not Rose questionnaire angina, was significantly associated with a normal cardiac test result (OR=2.97, P=.04). Nervios is common among Hispanics with symptoms of cardiac disease. Additional research is needed to understand how nervios symptoms differ from chest pain in Hispanics and the role of nervios in referral for cardiac workup by primary care providers and emergency room personnel.

  2. Subjective but Not Actigraphy-Defined Sleep Predicts Next-Day Fatigue in Chronic Fatigue Syndrome: A Prospective Daily Diary Study.

    Science.gov (United States)

    Russell, Charlotte; Wearden, Alison J; Fairclough, Gillian; Emsley, Richard A; Kyle, Simon D

    2016-04-01

    This study aimed to (1) examine the relationship between subjective and actigraphy-defined sleep, and next-day fatigue in chronic fatigue syndrome (CFS); and (2) investigate the potential mediating role of negative mood on this relationship. We also sought to examine the effect of presleep arousal on perceptions of sleep. Twenty-seven adults meeting the Oxford criteria for CFS and self-identifying as experiencing sleep difficulties were recruited to take part in a prospective daily diary study, enabling symptom capture in real time over a 6-day period. A paper diary was used to record nightly subjective sleep and presleep arousal. Mood and fatigue symptoms were rated four times each day. Actigraphy was employed to provide objective estimations of sleep duration and continuity. Multilevel modelling revealed that subjective sleep variables, namely sleep quality, efficiency, and perceiving sleep to be unrefreshing, predicted following-day fatigue levels, with poorer subjective sleep related to increased fatigue. Lower subjective sleep efficiency and perceiving sleep as unrefreshing predicted reduced variance in fatigue across the following day. Negative mood on waking partially mediated these relationships. Increased presleep cognitive and somatic arousal predicted self-reported poor sleep. Actigraphy-defined sleep, however, was not found to predict following-day fatigue. For the first time we show that nightly subjective sleep predicts next-day fatigue in CFS and identify important factors driving this relationship. Our data suggest that sleep specific interventions, targeting presleep arousal, perceptions of sleep and negative mood on waking, may improve fatigue in CFS. © 2016 Associated Professional Sleep Societies, LLC.

  3. Pediatric nasopharyngeal carcinoma: Anatomo-clinic aspects, therapeutic results and progressive particularities;Le cancer du cavum de l'enfant et l'adulte jeune: aspects anatomocliniques, therapeutiques et particularites evolutives

    Energy Technology Data Exchange (ETDEWEB)

    Frikha, M.; Toumi, N. [Service de carcinologie medicale, CHU Habib-Bourguiba, Sfax (Tunisia); Ghorbel, L.; Ben Salah, H.; Daoud, J. [Service de carcinologie radiotherapie, CHU Habib-Bourguiba, Sfax, (Tunisia); Khabir, A.; Boudawara, T. [Service d' anatomopathologie, CHU Habib-Bourguiba, Sfax (Tunisia); Karray, H. [Service de virologie, CHU Habib-Bourguiba, Sfax (Tunisia); Gargouri, R. [Centre de biotechnologie, Sfax (Tunisia); Ghorbel, A. [Service d' ORL, CHU Habib-Bourguiba, Sfax (Tunisia)

    2010-06-15

    Purpose We retrospectively analyzed anatomo-clinic, therapeutic and progressive particularities of 74 young patients (= 20 years) with nasopharyngeal carcinoma treated between 1993 and 2005. Patients and methods Initial work-up included a fiberoptic naso-fiberscopy with biopsy, computed tomography and/or MRI of nasopharynx and neck, chest X-ray, abdominal ultrasonography and bone scan. Patients were treated with either primary chemotherapy (epirubicin and cisplatin) followed by radiotherapy or concomitant radio chemotherapy (five fluorouracil and cisplatin). Radiotherapy was delivered to a total dose of 70 to 75 Gy to nasopharynx and involved cervical lymph nodes and 50 Gy to the remainder cervical areas. Results The median age was 16 years. Sixty-three percent of patients had undifferentiated tumors. Sixty-six percent had locally advanced tumor. With a median follow-up of 107 months, one patient presented a local relapse, 24 patients developed distant metastases with a median delay of 7 months. The 5 years overall survival and disease-free survival were 66 and 65 %. Late complications were dominated by dry mouth and endocrine disorders. Comments Pediatric nasopharyngeal carcinoma is characterized by an early metastatic diffusion. Local control is excellent but with severe late toxicities. New techniques of radiotherapy and new molecules of chemotherapy could improve these results. (authors)

  4. Anatomo-clinical overlapping maps (AnaCOM): a new method to create anatomo-functional maps from neuropsychological tests and structural MRI scan of subjects with brain lesions

    Science.gov (United States)

    Kinkingnehun, Serge R. J.; du Boisgueheneuc, Foucaud; Golmard, Jean-Louis; Zhang, Sandy X.; Levy, Richard; Dubois, Bruno

    2004-04-01

    We have developed a new technique to analyze correlations between brain anatomy and its neurological functions. The technique is based on the anatomic MRI of patients with brain lesions who are administered neuropsychological tests. Brain lesions of the MRI scans are first manually segmented. The MRI volumes are then normalized to a reference map, using the segmented area as a mask. After normalization, the brain lesions of the MRI are segmented again in order to redefine the border of the lesions in the context of the normalized brain. Once the MRI is segmented, the patient's score on the neuropsychological test is assigned to each voxel in the lesioned area, while the rest of the voxels of the image are set to 0. Subsequently, the individual patient's MRI images are superimposed, and each voxel is reassigned the average score of the patients who have a lesion at that voxel. A threshold is applied to remove regions having less than three overlaps. This process leads to an anatomo-functional map that links brain areas to functional loss. Other maps can be created to aid in analyzing the functional maps, such as one that indicates the 95% confidence interval of the averaged scores for each area. This anatomo-clinical overlapping map (AnaCOM) method was used to obtain functional maps from patients with lesions in the superior frontal gyrus. By finding particular subregions more responsible for a particular deficit, this method can generate new hypotheses to be tested by conventional group methods.

  5. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

    Science.gov (United States)

    Zollino, Marcella; Lecce, Rosetta; Fischetto, Rita; Murdolo, Marina; Faravelli, Francesca; Selicorni, Angelo; Buttè, Cinzia; Memo, Luigi; Capovilla, Giuseppe; Neri, Giovanni

    2003-03-01

    In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients carrying a 4p16.3 microdeletion were analyzed for their clinical phenotype and their respective genotypes. The extent of each individual deletion was established by fluorescence in situ hybridization, with a cosmid contig spanning the genomic region from MSX1 (distal half of 4p16.1) to the subtelomeric locus D4S3359. The deletions were 1.9-3.5 Mb, and all were terminal. All the patients presented with a mild phenotype, in which major malformations were usually absent. It is worth noting that head circumference was normal for height in two patients (those with the smallest deletions [1.9 and 2.2 Mb]). The currently accepted WHS critical region (WHSCR) was fully preserved in the patient with the 1.9-Mb deletion, in spite of a typical WHS phenotype. The deletion in this patient spanned the chromosome region from D4S3327 (190 b4 cosmid clone included) to the telomere. From a clinical point of view, the distinctive WHS phenotype is defined by the presence of typical facial appearance, mental retardation, growth delay, congenital hypotonia, and seizures. These signs represent the minimal diagnostic criteria for WHS. This basic phenotype maps distal to the currently accepted WHSCR. Here, we propose a new critical region for WHS, and we refer to this region as "WHSCR-2." It falls within a 300-600-kb interval in 4p16.3, between the loci D4S3327 and D4S98-D4S168. Among the candidate genes already described for WHS, LETM1 (leucine zipper/EF-hand-containing transmembrane) is likely to be pathogenetically involved in seizures. On the basis of genotype-phenotype correlation analysis, dividing the WHS phenotype into two distinct clinical entities, a "classical" and a "mild" form, is recommended for the purpose of proper genetic counseling.

  6. Using the Positive and Negative Syndrome Scale (PANSS) to Define Different Domains of Negative Symptoms: Prediction of Everyday Functioning by Impairments in Emotional Expression and Emotional Experience.

    Science.gov (United States)

    Harvey, Philip D; Khan, Anzalee; Keefe, Richard S E

    2017-12-01

    Background: Reduced emotional experience and expression are two domains of negative symptoms. The authors assessed these two domains of negative symptoms using previously developed Positive and Negative Syndrome Scale (PANSS) factors. Using an existing dataset, the authors predicted three different elements of everyday functioning (social, vocational, and everyday activities) with these two factors, as well as with performance on measures of functional capacity. Methods: A large (n=630) sample of people with schizophrenia was used as the data source of this study. Using regression analyses, the authors predicted the three different aspects of everyday functioning, first with just the two Positive and Negative Syndrome Scale factors and then with a global negative symptom factor. Finally, we added neurocognitive performance and functional capacity as predictors. Results: The Positive and Negative Syndrome Scale reduced emotional experience factor accounted for 21 percent of the variance in everyday social functioning, while reduced emotional expression accounted for no variance. The total Positive and Negative Syndrome Scale negative symptom factor accounted for less variance (19%) than the reduced experience factor alone. The Positive and Negative Syndrome Scale expression factor accounted for, at most, one percent of the variance in any of the functional outcomes, with or without the addition of other predictors. Implications: Reduced emotional experience measured with the Positive and Negative Syndrome Scale, often referred to as "avolition and anhedonia," specifically predicted impairments in social outcomes. Further, reduced experience predicted social impairments better than emotional expression or the total Positive and Negative Syndrome Scale negative symptom factor. In this cross-sectional study, reduced emotional experience was specifically related with social outcomes, accounting for essentially no variance in work or everyday activities, and being the

  7. Define Project

    DEFF Research Database (Denmark)

    Munk-Madsen, Andreas

    2005-01-01

    "Project" is a key concept in IS management. The word is frequently used in textbooks and standards. Yet we seldom find a precise definition of the concept. This paper discusses how to define the concept of a project. The proposed definition covers both heavily formalized projects and informally...... organized, agile projects. Based on the proposed definition popular existing definitions are discussed....

  8. "Dermatitis" defined.

    Science.gov (United States)

    Smith, Suzanne M; Nedorost, Susan T

    2010-01-01

    The term "dermatitis" can be defined narrowly or broadly, clinically or histologically. A common and costly condition, dermatitis is underresourced compared to other chronic skin conditions. The lack of a collectively understood definition of dermatitis and its subcategories could be the primary barrier. To investigate how dermatologists define the term "dermatitis" and determine if a consensus on the definition of this term and other related terms exists. A seven-question survey of dermatologists nationwide was conducted. Of respondents (n  =  122), half consider dermatitis to be any inflammation of the skin. Nearly half (47.5%) use the term interchangeably with "eczema." Virtually all (> 96%) endorse the subcategory "atopic" under the terms "dermatitis" and "eczema," but the subcategories "contact," "drug hypersensitivity," and "occupational" are more highly endorsed under the term "dermatitis" than under the term "eczema." Over half (55.7%) personally consider "dermatitis" to have a broad meaning, and even more (62.3%) believe that dermatologists as a whole define the term broadly. There is a lack of consensus among experts in defining dermatitis, eczema, and their related subcategories.

  9. The Clinical, Symptom, and Quality-of-Life Characterization of a Well-Defined Group of Patients with Posttreatment Lyme Disease Syndrome.

    Science.gov (United States)

    Rebman, Alison W; Bechtold, Kathleen T; Yang, Ting; Mihm, Erica A; Soloski, Mark J; Novak, Cheryl B; Aucott, John N

    2017-01-01

    The increased incidence and geographic expansion of Lyme disease has made it the most common vector-borne infection in North America. Posttreatment Lyme disease syndrome (PTLDS) represents a subset of patients who remain ill following standard antibiotic therapy for Lyme disease. The spectrum of symptoms and their impact on quality of life remain largely unexplored among patients with well-documented PTLDS. To characterize a case series of patients with well-documented PTLDS compared to a sample of healthy controls. Sixty-one participants met the proposed case definition for PTLDS. Twenty-six healthy controls had neither a clinical history of Lyme disease nor current antibodies to Borrelia burgdorferi . Participants with PTLDS and controls were evaluated by physical exam, clinical laboratory testing, standardized questionnaires, and a 36-item current symptom list. Compared to controls, participants with PTLDS reported significantly greater fatigue, pain, sleep disturbance, and depression (Fatigue Severity Scale: 50.0 ± 10.6 vs. 19.8 ± 8.6; Short-Form McGill Pain Questionnaire: 13.7 ± 8.3 vs. 0.8 ± 1.9; Pittsburgh Sleep Quality Index: 10.1 ± 4.7 vs. 4.1 ± 2.1; Beck Depression Inventory-II: 15.1 ± 7.7 vs. 2.2 ± 3.2; p  < 0.001 for each), and significantly lower quality of life (SF-36 Physical Component Score: 33.9 ± 9.7 vs. 55.1 ± 6.2; Mental Component Score: 42.9 ± 10.1 vs. 54.2 ± 5.4; p  < 0.001 for each). Nineteen non-PTLDS-defining symptoms were found to be significantly more severe among participants with PTLDS than controls, including sleep difficultly and visual complaints. Initial delayed or misdiagnosis was characterized in 59.0% of participants with PTLDS, and 32.2% had abnormal vibratory sense. Although physical exam and clinical laboratory tests showed few objective abnormalities, standardized symptom questionnaires revealed that patients with PTLDS are highly and clinically significantly

  10. A comparison of standard definitions and sagittal abdominal diameter as a measure of excess adiposity when defining metabolic syndrome in adolescents

    Science.gov (United States)

    Introduction: Metabolic syndrome (MeTS) is the cluster of several clinical symptoms that together represent the strongest risk factor for cardiovascular disease. The prevalence of MeTS in adolescents is difficult to estimate given that there are several, but no agreed upon defini...

  11. Complex regional pain syndrome type I : Use of the International Association for the Study of Pain diagnostic criteria defined in 1994

    NARCIS (Netherlands)

    Reinders, M.F.; Geertzen, J.H.B.; Dijkstra, P.U.

    2002-01-01

    Objectives: The objective was to assess the reported use in recent publications of the diagnostic criteria for complex regional pain syndrome type I (CRPS 1) proposed by the International Association for the Study of Pain (IASP) in 1994. Methods: A literature search of MEDLINE (January 1996 to July

  12. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.

    Directory of Open Access Journals (Sweden)

    Mia Olsson

    2011-03-01

    Full Text Available Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA signal for susceptibility to the periodic fever syndrome (p(raw = 2.3 × 10⁻⁶, p(genome = 0.01. Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2 gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA, a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p < 0.0001. When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation.

  13. Defining chaos.

    Science.gov (United States)

    Hunt, Brian R; Ott, Edward

    2015-09-01

    In this paper, we propose, discuss, and illustrate a computationally feasible definition of chaos which can be applied very generally to situations that are commonly encountered, including attractors, repellers, and non-periodically forced systems. This definition is based on an entropy-like quantity, which we call "expansion entropy," and we define chaos as occurring when this quantity is positive. We relate and compare expansion entropy to the well-known concept of topological entropy to which it is equivalent under appropriate conditions. We also present example illustrations, discuss computational implementations, and point out issues arising from attempts at giving definitions of chaos that are not entropy-based.

  14. Defining Cyberbullying.

    Science.gov (United States)

    Englander, Elizabeth; Donnerstein, Edward; Kowalski, Robin; Lin, Carolyn A; Parti, Katalin

    2017-11-01

    Is cyberbullying essentially the same as bullying, or is it a qualitatively different activity? The lack of a consensual, nuanced definition has limited the field's ability to examine these issues. Evidence suggests that being a perpetrator of one is related to being a perpetrator of the other; furthermore, strong relationships can also be noted between being a victim of either type of attack. It also seems that both types of social cruelty have a psychological impact, although the effects of being cyberbullied may be worse than those of being bullied in a traditional sense (evidence here is by no means definitive). A complicating factor is that the 3 characteristics that define bullying (intent, repetition, and power imbalance) do not always translate well into digital behaviors. Qualities specific to digital environments often render cyberbullying and bullying different in circumstances, motivations, and outcomes. To make significant progress in addressing cyberbullying, certain key research questions need to be addressed. These are as follows: How can we define, distinguish between, and understand the nature of cyberbullying and other forms of digital conflict and cruelty, including online harassment and sexual harassment? Once we have a functional taxonomy of the different types of digital cruelty, what are the short- and long-term effects of exposure to or participation in these social behaviors? What are the idiosyncratic characteristics of digital communication that users can be taught? Finally, how can we apply this information to develop and evaluate effective prevention programs? Copyright © 2017 by the American Academy of Pediatrics.

  15. Using the Positive and Negative Syndrome Scale (PANSS) to Define Different Domains of Negative Symptoms: Prediction of Everyday Functioning by Impairments in Emotional Expression and Emotional Experience

    OpenAIRE

    Harvey, Philip D.; Khan, Anzalee; Keefe, Richard S. E.

    2017-01-01

    Background: Reduced emotional experience and expression are two domains of negative symptoms. The authors assessed these two domains of negative symptoms using previously developed Positive and Negative Syndrome Scale (PANSS) factors. Using an existing dataset, the authors predicted three different elements of everyday functioning (social, vocational, and everyday activities) with these two factors, as well as with performance on measures of functional capacity. Methods: A large (n=630) sampl...

  16. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  17. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

    Science.gov (United States)

    Watson, Christopher M; Crinnion, Laura A; Harrison, Sally M; Lascelles, Carolina; Antanaviciute, Agne; Carr, Ian M; Bonthron, David T; Sheridan, Eamonn

    2016-01-01

    Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular methods. We report a child born with bilateral postaxial syndactyly of the feet and bilateral fifth finger clinodactyly. This was presumed to be an autosomal recessive syndrome, due to the family history of consanguinity. Karyotype analysis revealed a homozygous pericentric inversion of chromosome 7 (46,XX,inv(7)(p15q21)x2) which was confirmed to be heterozygous in both unaffected parents. Since the resolution of the karyotype was insufficient to identify any putatively causative gene, we undertook medium-coverage whole genome sequencing using paired-end reads, in order to elucidate the molecular breakpoints. In a two-step analysis, we first narrowed down the region by identifying discordant read-pairs, and then determined the precise molecular breakpoint by analysing the mapping locations of "soft-clipped" breakpoint-spanning reads. PCR and Sanger sequencing confirmed the identified breakpoints, both of which were located in intergenic regions. Significantly, the 7p15 breakpoint was located 523 kb upstream of HOXA13, the locus for hand-foot-genital syndrome. By inference from studies of HOXA locus control in the mouse, we suggest that the inversion has delocalised a HOXA13 enhancer to produce the phenotype observed in our patient. This study demonstrates how modern genetic diagnostic approach can characterise structural variants at nucleotide resolution and provide potential insights into functional regulation.

  18. WHO-defined 'myelodysplastic syndrome with isolated del(5q)' in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations.

    Science.gov (United States)

    Patnaik, M M; Lasho, T L; Finke, C M; Gangat, N; Caramazza, D; Holtan, S G; Pardanani, A; Knudson, R A; Ketterling, R P; Chen, D; Hoyer, J D; Hanson, C A; Tefferi, A

    2010-07-01

    The 2008 World Health Organization (WHO) criteria were used to identify 88 consecutive Mayo Clinic patients with 'myelodysplastic syndrome with isolated del(5q)' (median age 74 years; 60 females). In all, 60 (68%) patients were followed up to the time of their death. Overall median survival was 66 months; leukemic transformation was documented in five (5.7%) cases. Multivariable analysis identified age >or=70 years (P=0.01), transfusion need at diagnosis (P=0.04) and dysgranulopoiesis (P=0.02) as independent predictors of shortened survival; the presence of zero (low risk), one (intermediate risk) or >or=2 (high risk) risk factors corresponded to median survivals of 102, 52 and 27 months, respectively. Janus kinase 2 (JAK2), thrombopoietin receptor (MPL), isocitrate dehydrogenase 1 (IDH1) and IDH2 mutational analysis was performed on archived bone marrows in 78 patients; JAK2V617F and MPLW515L mutations were shown in five (6.4%) and three (3.8%) patients, respectively, and did not seem to affect phenotype or prognosis. IDH mutations were not detected. Survival was not affected by serum ferritin and there were no instances of death directly related to iron overload. The current study is unique in its strict adherence to WHO criteria for selecting study patients and providing information on long-term survival, practical prognostic factors, baseline risk of leukemic transformation and the prevalence of JAK2, MPL and IDH mutations.

  19. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  20. AIDS defining disease: Disseminated cryptococcosis

    Directory of Open Access Journals (Sweden)

    Roshan Anupama

    2006-01-01

    Full Text Available Disseminated cryptococcosis is one of the acquired immune deficiency syndrome defining criteria and the most common cause of life threatening meningitis. Disseminated lesions in the skin manifest as papules or nodules that mimic molluscum contagiosum (MC. We report here a human immunodeficiency virus positive patient who presented with MC like lesions. Disseminated cryptococcosis was confirmed by India ink preparation and histopathology. The condition of the patient improved with amphotercin B.

  1. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    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 r...

  2. [Prune Belly syndrome: epidemiologic, clinic and therapeutic aspects].

    Science.gov (United States)

    Diao, B; Diallo, Y; Fall, P A; Ngom, G; Fall, B; Ndoye, A K; Fall, I; Ba, M; Ndoye, M; Diagne, B A

    2008-07-01

    Prune Belly syndrome (PBS) is a rare complex malformation with male predominance. His pathogeny is not yet completely elucidated. The goal of this work is to analyze the epidemiological, anatomoclinical and treatment aspects of a retrospective trial in Aristide-Le-Dantec Hospital. We carried out a retrospective study about 22 cases collected in the departments of urology-andrology and pediatric surgery in Aristide-Le-Dantec Hospital between April 1995 and November 2004. The mean age of the patients was 15 months with extremes of one day and 10 years. The somatic examination revealed 20 cases of complete abdominal muscle aplasia, one right partial form and the last case had a left partial form. Nineteen patients were managed with conservative treatment and three patients benefited a surgical act for urinary abnormalities. The Montfort intervention was performed in two patients respectively aged eight and 10 years. The orchidopexy, stage 1, by Fowler-Stephens technique was performed in 13 cases. Five cases of death and nine cases of testicular atrophy after orchidopexy occurred. The followings were satisfactory in the three operated patients for urinary abnormalities. The renal failure is the main cause of death. The management of the urinary tract abnormalities must be performed individually. The testis descending should be performed in newborn period to enhance the fertility chances. The abdominoplasty also should be done early for aesthetic reason and to improve pulmonary, defecation, and voiding functions.

  3. De la escuela anatomoclínica a la fisiología moderna en la Facultad de Medicina de la Universidad de Antioquia From the anatomoclinical school to the physiopathological one at the medical faculty, University of Antioquia, in Medellin, Colombia

    Directory of Open Access Journals (Sweden)

    2005-04-01

    ´s formulations, whose model of the universe dominated scientific thought between the middle of the XVII century and the end of the XIX century; then with Einstein´s modern physics and the relativity and quantic theories. Einstein broke up with the mechanistic Newtonian vision of the XIX century physics, but biomedical science, through education, remains anchored to the fragmentary vision of reality offered by symptoms and organs. The change from the anatomoclinical school to the physiopathological one at the Medical Faculty, University of Antioquia, is described. This Faculty dates back to 1871 and started under the influence of the anatomoclinical French model. It did not change until 1940; then there was a significant change to scientific medicine with the pathology laboratory (1943 and the clinicopathological conference (1944, both founded by doctor Alfredo Correa Henao. Also, with the development of modern physiology with doctor Alberto Saldarriaga, a surgeon from the school of Bernard and Leriche, and doctor Antonio Ramírez González, a physiologist from Louisville University (USA and a chest surgeon from the United Kingdom. Some work carried out at the physiology and experimental surgery laboratories are described, in which both German and American methodologies were employed.

  4. Insulino resistencia y síndrome metabólico en pacientes con enfermedad coronaria definida por angiografía Insulin-resistance and metabolic syndrome in patients with coronary heart disease defined by angiography

    Directory of Open Access Journals (Sweden)

    Silvia Benozzi

    2009-04-01

    Full Text Available Se examinó la frecuencia de insulino-resistencia (IR y síndrome metabólico (SM en pacientes coronarios empleando diferentes criterios de definición y se analizó cuáles mostraban mejor asociación con la presencia y gravedad de la afección. Fue un estudio casos-controles en 100 pacientes con edades entre 40 y 70 años que concurrieron a un centro hospitalario para realizarse una angiografía. IR fue definido por insulina >15 mU/l, el modelo hemostático de insulino-resistencia (HOMA-IR >3.1 y la combinación del índice de masa corporal (IMC >27.5 kg/m² con HOMA-IR >3.6. SM fue definido según International Diabetes Federation y American Heart Association / National Heart, Lung, and Blood. Insulina >15 mU/l y HOMA-IR >3.1 tuvieron la misma sensibilidad, (60.3%, y se asociaron significativamente con la extensión de la enfermedad coronaria, p = 0.001 y p = 0.009 respectivamente. En cambio, IMC >27.5 kg/m² con HOMA-IR >3.6 mostró menor sensibilidad, (43.1%, y menor asociación con la gravedad, (p = 0.028. Los odds ratio (OR para enfermedad coronaria fueron respectivamente: 3.16 (IC 95% 1.28-7.79, p = 0.012; 2.93 (IC 95% 1.20-7.19 p = 0.019; 2.86 (IC 95% 1.10-7.41, P = 0.031. La frecuencia de SM definida según American Heart Association / National Heart, Lung, and Blood fue mayor en coronarios versus controles (62.1% versus 33.3%, p = 0.003, se asoció con la enfermedad en uno o en múltiples vasos (p = 0.011 y fue su predictor, OR = 4.22 (IC 95% 1.65-10.83 p = 0.003. Sin embargo, SM definido según International Diabetes Federation no se asoció con la presencia ni con la gravedad de la enfermedad.The frequency of insulin-resistance (IR and metabolic syndrome (MS were examined in coronary patients using different criteria of definition. It was also analyzed which of them indicated a strong association with the presence and severity of the disease. This was a case-control study on 100 patients between 40 and 70 years old, assisted in a

  5. Syndromes with supernumerary teeth.

    Science.gov (United States)

    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.

  6. Defining Quantum Control Flow

    OpenAIRE

    Ying, Mingsheng; Yu, Nengkun; Feng, Yuan

    2012-01-01

    A remarkable difference between quantum and classical programs is that the control flow of the former can be either classical or quantum. One of the key issues in the theory of quantum programming languages is defining and understanding quantum control flow. A functional language with quantum control flow was defined by Altenkirch and Grattage [\\textit{Proc. LICS'05}, pp. 249-258]. This paper extends their work, and we introduce a general quantum control structure by defining three new quantu...

  7. Can play be defined?

    DEFF Research Database (Denmark)

    Eichberg, Henning

    2015-01-01

    Can play be defined? There is reason to raise critical questions about the established academic demand that at phenomenon – also in humanist studies – should first of all be defined, i.e. de-lineated and by neat lines limited to a “little box” that can be handled. The following chapter develops....... Human beings can very well understand play – or whatever phenomenon in human life – without defining it....

  8. Tuberculose como doença definidora de síndrome da imunodeficiência adquirida: dez anos de evolução na Cidade do Rio de Janeiro Tuberculosis as a disease defining acquired immunodeficiency syndrome: ten years of surveillance in Rio de Janeiro, Brazil

    Directory of Open Access Journals (Sweden)

    Elizabeth Cristina Coelho Soares

    2006-10-01

    Full Text Available OBJETIVO: Analisar a freqüência da tuberculose e das outras principais doenças oportunistas definidoras de síndrome da imunodeficiência adquirida, no momento em que estes casos são notificados, no Município do Rio de Janeiro. MÉTODOS: Análise do banco de dados do Sistema de Vigilância Epidemiológica do Programa de Doenças Sexualmente Transmissíveis e Síndrome da Imunodeficiência Adquirida da Cidade do Rio de Janeiro, no período de 1993 a 2002. RESULTADOS: A expansão da definição de casos de síndrome da imunodeficiência adquirida ocorrida em 1998 criou um aumento substancial no número de casos notificados de síndrome da imunodeficiência adquirida, principalmente por aqueles que passaram a ser definidos pelo critério imunológico. Dentre os casos de síndrome da imunodeficiência adquirida que foram definidos apenas por doença, a candidíase em suas diversas formas manteve-se como a doença oportunista de maior freqüência no momento da notificação. Embora a pneumonia por Pneumocystis carinii se apresentasse como a segunda doença mais freqüente na maioria dos anos observados, a partir de 2001, a tuberculose ultrapassou-a em freqüência, tornando-se a segunda doença mais freqüente no momento da notificação dos casos de síndrome da imunodeficiência adquirida. CONCLUSÃO: Apesar da diminuição do número de casos de síndrome da imunodeficiência adquirida definidos por doença, a tuberculose manteve-se como um importante evento definidor dessa síndrome, sendo atualmente de ocorrência mais freqüente do que a pneumonia por Pneumocystis carinii e a toxoplasmose, provavelmente por sua alta taxa de prevalência na cidade.OBJECTIVE: To analyze the frequency of tuberculosis and of the other principal opportunistic infections defining acquired immunodeficiency syndrome at the time such cases were reported in the city of Rio de Janeiro, Brazil. METHODS: Analysis of the data compiled in the Rio de Janeiro Municipal

  9. Defining Dystonic Tremor

    OpenAIRE

    Elble, Rodger J

    2013-01-01

    A strong association between dystonia and tremor has been known for more than a century. Two forms of tremor in dystonia are currently recognized: 1) dystonic tremor, which is tremor produced by dystonic muscle contraction and 2) tremor associated with dystonia, which is tremor in a body part that is not dystonic, but there is dystonia elsewhere. Both forms of tremor in dystonia frequently resemble essential tremor or another pure tremor syndrome (e.g., isolated head and voice tremors and tas...

  10. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  11. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  12. Defining Overweight and Obesity

    Science.gov (United States)

    ... Micronutrient Malnutrition State and Local Programs Defining Adult Overweight and Obesity Recommend on Facebook Tweet Share Compartir ... weight for a given height is described as overweight or obese. Body Mass Index, or BMI, is ...

  13. Drinking Levels Defined

    Science.gov (United States)

    ... of Alcohol Consumption Alcohol's Effects on the Body Alcohol Use Disorder Fetal Alcohol Exposure Support & Treatment Alcohol Policy Special ... Definition of Drinking at Low Risk for Developing Alcohol Use Disorder (AUD): For women, low-risk drinking is defined ...

  14. Defining Documentary Film

    DEFF Research Database (Denmark)

    Juel, Henrik

    2006-01-01

    A discussion of various attemts at defining documentary film regarding form, content, truth, stile, genre or reception - and a propoposal of a positive list of essential, but non-exclusive characteristica of documentary film......A discussion of various attemts at defining documentary film regarding form, content, truth, stile, genre or reception - and a propoposal of a positive list of essential, but non-exclusive characteristica of documentary film...

  15. Metabolic syndrome and menopause

    OpenAIRE

    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

    2013-01-01

    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  16. Definably compact groups definable in real closed fields. I

    OpenAIRE

    Barriga, Eliana

    2017-01-01

    We study definably compact definably connected groups definable in a sufficiently saturated real closed field $R$. We introduce the notion of group-generic point for $\\bigvee$-definable groups and show the existence of group-generic points for definably compact groups definable in a sufficiently saturated o-minimal expansion of a real closed field. We use this notion along with some properties of generic sets to prove that for every definably compact definably connected group $G$ definable in...

  17. Defining Game Mechanics

    DEFF Research Database (Denmark)

    Sicart (Vila), Miguel Angel

    2008-01-01

    This article defins game mechanics in relation to rules and challenges. Game mechanics are methods invoked by agents for interacting with the game world. I apply this definition to a comparative analysis of the games Rez, Every Extend Extra and Shadow of the Colossus that will show the relevance...... of a formal definition of game mechanics. Udgivelsesdato: Dec 2008...

  18. Modal Logics and Definability

    OpenAIRE

    Kuusisto, Antti

    2013-01-01

    In recent years, research into the mathematical foundations of modal logic has become increasingly popular. One of the main reasons for this is the fact that modal logic seems to adapt well to the requirements of a wide range of different fields of application. This paper is a summary of some of the author’s contributions to the understanding of modal definability theory.

  19. Software Defined Cyberinfrastructure

    Energy Technology Data Exchange (ETDEWEB)

    Foster, Ian; Blaiszik, Ben; Chard, Kyle; Chard, Ryan

    2017-07-17

    Within and across thousands of science labs, researchers and students struggle to manage data produced in experiments, simulations, and analyses. Largely manual research data lifecycle management processes mean that much time is wasted, research results are often irreproducible, and data sharing and reuse remain rare. In response, we propose a new approach to data lifecycle management in which researchers are empowered to define the actions to be performed at individual storage systems when data are created or modified: actions such as analysis, transformation, copying, and publication. We term this approach software-defined cyberinfrastructure because users can implement powerful data management policies by deploying rules to local storage systems, much as software-defined networking allows users to configure networks by deploying rules to switches.We argue that this approach can enable a new class of responsive distributed storage infrastructure that will accelerate research innovation by allowing any researcher to associate data workflows with data sources, whether local or remote, for such purposes as data ingest, characterization, indexing, and sharing. We report on early experiments with this approach in the context of experimental science, in which a simple if-trigger-then-action (IFTA) notation is used to define rules.

  20. Defining Abnormally Low Tenders

    DEFF Research Database (Denmark)

    Ølykke, Grith Skovgaard; Nyström, Johan

    2017-01-01

    The concept of an abnormally low tender is not defined in EU public procurement law. This article takes an interdisciplinary law and economics approach to examine a dataset consisting of Swedish and Danish judgments and verdicts concerning the concept of an abnormally low tender. The purpose...

  1. Software Defined Coded Networking

    DEFF Research Database (Denmark)

    Di Paola, Carla; Roetter, Daniel Enrique Lucani; Palazzo, Sergio

    2017-01-01

    the quality of each link and even across neighbouring links and using simulations to show that an additional reduction of packet transmission in the order of 40% is possible. Second, to advocate for the use of network coding (NC) jointly with software defined networking (SDN) providing an implementation...

  2. Defining depth of anesthesia.

    Science.gov (United States)

    Shafer, S L; Stanski, D R

    2008-01-01

    In this chapter, drawn largely from the synthesis of material that we first presented in the sixth edition of Miller's Anesthesia, Chap 31 (Stanski and Shafer 2005; used by permission of the publisher), we have defined anesthetic depth as the probability of non-response to stimulation, calibrated against the strength of the stimulus, the difficulty of suppressing the response, and the drug-induced probability of non-responsiveness at defined effect site concentrations. This definition requires measurement of multiple different stimuli and responses at well-defined drug concentrations. There is no one stimulus and response measurement that will capture depth of anesthesia in a clinically or scientifically meaningful manner. The "clinical art" of anesthesia requires calibration of these observations of stimuli and responses (verbal responses, movement, tachycardia) against the dose and concentration of anesthetic drugs used to reduce the probability of response, constantly adjusting the administered dose to achieve the desired anesthetic depth. In our definition of "depth of anesthesia" we define the need for two components to create the anesthetic state: hypnosis created with drugs such as propofol or the inhalational anesthetics and analgesia created with the opioids or nitrous oxide. We demonstrate the scientific evidence that profound degrees of hypnosis in the absence of analgesia will not prevent the hemodynamic responses to profoundly noxious stimuli. Also, profound degrees of analgesia do not guarantee unconsciousness. However, the combination of hypnosis and analgesia suppresses hemodynamic response to noxious stimuli and guarantees unconsciousness.

  3. Defining and classifying syncope

    NARCIS (Netherlands)

    Thijs, Roland D.; Wieling, Wouter; Kaufmann, Horacio; van Dijk, Gert

    2004-01-01

    There is no widely adopted definition or classification of syncope and related disorders. This lack of uniformity harms patient care, research, and medical education. In this article, syncope is defined as a form of transient loss of consciousness (TLOC) due to cerebral hypoperfusion. Differences

  4. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  5. Defining Legal Moralism

    DEFF Research Database (Denmark)

    Thaysen, Jens Damgaard

    2015-01-01

    This paper discusses how legal moralism should be defined. It is argued that legal moralism should be defined as the position that “For any X, it is always a pro tanto reason for justifiably imposing legal regulation on X that X is morally wrong (where “morally wrong” is not conceptually equivalent...... to “harmful”)”. Furthermore, a distinction between six types of legal moralism is made. The six types are grouped according to whether they are concerned with the enforcement of positive or critical morality, and whether they are concerned with criminalising, legally restricting, or refraining from legally...... protecting morally wrong behaviour. This is interesting because not all types of legal moralism are equally vulnerable to the different critiques of legal moralism that have been put forth. Indeed, I show that some interesting types of legal moralism have not been criticised at all....

  6. Defining local food

    DEFF Research Database (Denmark)

    Eriksen, Safania Normann

    2013-01-01

    Despite evolving local food research, there is no consistent definition of “local food.” Various understandings are utilized, which have resulted in a diverse landscape of meaning. The main purpose of this paper is to examine how researchers within the local food systems literature define local...... food, and how these definitions can be used as a starting point to identify a new taxonomy of local food based on three domains of proximity....

  7. Plummer-Vinson Syndrome with Improvement After Iron Repletion

    African Journals Online (AJOL)

    10.4314/aas.v13i2.11. Introduction. Plummer-Vinson syndrome (synonyms: Paterson-. Kelly Syndrome, Paterson-Brown Kelly syndrome,. Sideropenic dysphagia), is defined by the classic triad of dysphagia, iron deficiency anemia and esophageal.

  8. Extracolonic Manifestations of Lynch Syndrome

    OpenAIRE

    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 extracolon...

  9. WHO-defined ‘myelodysplastic syndrome with isolated del(5q)' in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations

    Science.gov (United States)

    Patnaik, M M; Lasho, T L; Finke, C M; Gangat, N; Caramazza, D; Holtan, S G; Pardanani, A; Knudson, R A; Ketterling, R P; Chen, D; Hoyer, J D; Hanson, C A; Tefferi, A

    2010-01-01

    The 2008 World Health Organization (WHO) criteria were used to identify 88 consecutive Mayo Clinic patients with ‘myelodysplastic syndrome with isolated del(5q)' (median age 74 years; 60 females). In all, 60 (68%) patients were followed up to the time of their death. Overall median survival was 66 months; leukemic transformation was documented in five (5.7%) cases. Multivariable analysis identified age ⩾70 years (P=0.01), transfusion need at diagnosis (P=0.04) and dysgranulopoiesis (P=0.02) as independent predictors of shortened survival; the presence of zero (low risk), one (intermediate risk) or ⩾2 (high risk) risk factors corresponded to median survivals of 102, 52 and 27 months, respectively. Janus kinase 2 (JAK2), thrombopoietin receptor (MPL), isocitrate dehydrogenase 1 (IDH1) and IDH2 mutational analysis was performed on archived bone marrows in 78 patients; JAK2V617F and MPLW515L mutations were shown in five (6.4%) and three (3.8%) patients, respectively, and did not seem to affect phenotype or prognosis. IDH mutations were not detected. Survival was not affected by serum ferritin and there were no instances of death directly related to iron overload. The current study is unique in its strict adherence to WHO criteria for selecting study patients and providing information on long-term survival, practical prognostic factors, baseline risk of leukemic transformation and the prevalence of JAK2, MPL and IDH mutations. PMID:20485371

  10. Cushing syndrome

    Science.gov (United States)

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

  11. LEOPARD syndrome

    Science.gov (United States)

    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 -- ...

  12. Defined contribution health benefits.

    Science.gov (United States)

    Fronstin, P

    2001-03-01

    This Issue Brief discusses the emerging issue of "defined contribution" (DC) health benefits. The term "defined contribution" is used to describe a wide variety of approaches to the provision of health benefits, all of which have in common a shift in the responsibility for payment and selection of health care services from employers to employees. DC health benefits often are mentioned in the context of enabling employers to control their outlay for health benefits by avoiding increases in health care costs. DC health benefits may also shift responsibility for choosing a health plan and the associated risks of choosing a plan from employers to employees. There are three primary reasons why some employers currently are considering some sort of DC approach. First, they are once again looking for ways to keep their health care cost increases in line with overall inflation. Second, some employers are concerned that the public "backlash" against managed care will result in new legislation, regulations, and litigation that will further increase their health care costs if they do not distance themselves from health care decisions. Third, employers have modified not only most employee benefit plans, but labor market practices in general, by giving workers more choice, control, and flexibility. DC-type health benefits have existed as cafeteria plans since the 1980s. A cafeteria plan gives each employee the opportunity to determine the allocation of his or her total compensation (within employer-defined limits) among various employee benefits (primarily retirement or health). Most types of DC health benefits currently being discussed could be provided within the existing employment-based health insurance system, with or without the use of cafeteria plans. They could also allow employees to purchase health insurance directly from insurers, or they could drive new technologies and new forms of risk pooling through which health care services are provided and financed. DC health

  13. On Defining Mass

    Science.gov (United States)

    Hecht, Eugene

    2011-01-01

    Though central to any pedagogical development of physics, the concept of mass is still not well understood. Properly defining mass has proven to be far more daunting than contemporary textbooks would have us believe. And yet today the origin of mass is one of the most aggressively pursued areas of research in all of physics. Much of the excitement surrounding the Large Hadron Collider at CERN is associated with discovering the mechanism responsible for the masses of the elementary particles. This paper will first briefly examine the leading definitions, pointing out their shortcomings. Then, utilizing relativity theory, it will propose—for consideration by the community of physicists—a conceptual definition of mass predicated on the more fundamental concept of energy, more fundamental in that everything that has mass has energy, yet not everything that has energy has mass.

  14. Implementing Software Defined Radio

    CERN Document Server

    Grayver, Eugene

    2013-01-01

    Software Defined Radio makes wireless communications easier, more efficient, and more reliable. This book bridges the gap between academic research and practical implementation. When beginning a project, practicing engineers, technical managers, and graduate students can save countless hours by considering the concepts presented in these pages. The author covers the myriad options and trade-offs available when selecting an appropriate hardware architecture. As demonstrated here, the choice between hardware- and software-centric architecture can mean the difference between meeting an aggressive schedule and bogging down in endless design iterations. Because of the author’s experience overseeing dozens of failed and successful developments, he is able to present many real-life examples. Some of the key concepts covered are: Choosing the right architecture for the market – laboratory, military, or commercial Hardware platforms – FPGAs, GPPs, specialized and hybrid devices Standardization efforts to ens...

  15. Defining cyber warfare

    Directory of Open Access Journals (Sweden)

    Dragan D. Mladenović

    2012-04-01

    Full Text Available Cyber conflicts represent a new kind of warfare that is technologically developing very rapidly. Such development results in more frequent and more intensive cyber attacks undertaken by states against adversary targets, with a wide range of diverse operations, from information operations to physical destruction of targets. Nevertheless, cyber warfare is waged through the application of the same means, techniques and methods as those used in cyber criminal, terrorism and intelligence activities. Moreover, it has a very specific nature that enables states to covertly initiate attacks against their adversaries. The starting point in defining doctrines, procedures and standards in the area of cyber warfare is determining its true nature. In this paper, a contribution to this effort was made through the analysis of the existing state doctrines and international practice in the area of cyber warfare towards the determination of its nationally acceptable definition.

  16. Defining the mobilome.

    Science.gov (United States)

    Siefert, Janet L

    2009-01-01

    This chapter defines the agents that provide for the movement of genetic material which fuels the adaptive potential of life on our planet. The chapter has been structured to be broadly comprehensive, arbitrarily categorizing the mobilome into four classes: (1) transposons, (2) plasmids, (3) bacteriophage, and (4) self-splicing molecular parasites.Our increasing understanding of the mobilome is as dynamic as the mobilome itself. With continuing discovery, it is clear that nature has not confined these genomic agents of change to neat categories, but rather the classification categories overlap and intertwine. Massive sequencing efforts and their published analyses are continuing to refine our understanding of the extent of the mobilome. This chapter provides a framework to describe our current understanding of the mobilome and a foundation on which appreciation of its impact on genome evolution can be understood.

  17. Software Defined Networking

    DEFF Research Database (Denmark)

    Caba, Cosmin Marius

    Network Service Providers (NSP) often choose to overprovision their networks instead of deploying proper Quality of Services (QoS) mechanisms that allow for traffic differentiation and predictable quality. This tendency of overprovisioning is not sustainable for the simple reason that network...... resources are limited. Hence, to counteract this trend, current QoS mechanisms must become simpler to deploy and operate, in order to motivate NSPs to employ QoS techniques instead of overprovisioning. Software Defined Networking (SDN) represents a paradigm shift in the way telecommunication and data...... generic perspective (e.g. service provisioning speed, resources availability). As a result, new mechanisms for providing QoS are proposed, solutions for SDN-specific QoS challenges are designed and tested, and new network management concepts are prototyped, all aiming to improve QoS for network services...

  18. Fanconi syndrome

    Science.gov (United States)

    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 ...

  19. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  20. [Descartes' influence on the development of the anatomoclinical method].

    Science.gov (United States)

    González Hernández, A; Domínguez Rodríguez, M V; Fabre Pi, O; Cubero González, A

    2010-01-01

    The development of the anatomical-clinical method was a huge advance for modern medicine since it revealed a new approach to understanding diagnostic procedures. This change in medical thinking towards a more scientific basis has gradually evolved over several centuries, reaching its brilliant zenith with the contributions of the French school. There are certain similarities between the guidelines of the anatomical-clinical method and René Descartes' philosophical principles, so it is fair to consider him as one of the major precursors in this new line of thinking that definitely influenced the historical course of medicine.

  1. Defining the Anthropocene

    Science.gov (United States)

    Lewis, Simon; Maslin, Mark

    2016-04-01

    Time is divided by geologists according to marked shifts in Earth's state. Recent global environmental changes suggest that Earth may have entered a new human-dominated geological epoch, the Anthropocene. Should the Anthropocene - the idea that human activity is a force acting upon the Earth system in ways that mean that Earth will be altered for millions of years - be defined as a geological time-unit at the level of an Epoch? Here we appraise the data to assess such claims, first in terms of changes to the Earth system, with particular focus on very long-lived impacts, as Epochs typically last millions of years. Can Earth really be said to be in transition from one state to another? Secondly, we then consider the formal criteria used to define geological time-units and move forward through time examining whether currently available evidence passes typical geological time-unit evidence thresholds. We suggest two time periods likely fit the criteria (1) the aftermath of the interlinking of the Old and New Worlds, which moved species across continents and ocean basins worldwide, a geologically unprecedented and permanent change, which is also the globally synchronous coolest part of the Little Ice Age (in Earth system terms), and the beginning of global trade and a new socio-economic "world system" (in historical terms), marked as a golden spike by a temporary drop in atmospheric CO2, centred on 1610 CE; and (2) the aftermath of the Second World War, when many global environmental changes accelerated and novel long-lived materials were increasingly manufactured, known as the Great Acceleration (in Earth system terms) and the beginning of the Cold War (in historical terms), marked as a golden spike by the peak in radionuclide fallout in 1964. We finish by noting that the Anthropocene debate is politically loaded, thus transparency in the presentation of evidence is essential if a formal definition of the Anthropocene is to avoid becoming a debate about bias. The

  2. Teleology and Defining Sex.

    Science.gov (United States)

    Gamble, Nathan K; Pruski, Michal

    2018-07-01

    Disorders of sexual differentiation lead to what is often referred to as an intersex state. This state has medical, as well as some legal, recognition. Nevertheless, the question remains whether intersex persons occupy a state in between maleness and femaleness or whether they are truly men or women. To answer this question, another important conundrum needs to be first solved: what defines sex? The answer seems rather simple to most people, yet when morphology does not coincide with haplotypes, and genetics might not correlate with physiology the issue becomes more complex. This paper tackles both issues by establishing where the essence of sex is located and by superimposing that framework onto the issue of the intersex. This is achieved through giving due consideration to the biology of sexual development, as well as through the use of a teleological framework of the meaning of sex. Using a range of examples, the paper establishes that sex cannot be pinpointed to one biological variable but is rather determined by how the totality of one's biology is oriented towards biological reproduction. A brief consideration is also given to the way this situation could be comprehended from a Christian understanding of sex and suffering.

  3. Defining an emerging disease.

    Science.gov (United States)

    Moutou, F; Pastoret, P-P

    2015-04-01

    Defining an emerging disease is not straightforward, as there are several different types of disease emergence. For example, there can be a 'real' emergence of a brand new disease, such as the emergence of bovine spongiform encephalopathy in the 1980s, or a geographic emergence in an area not previously affected, such as the emergence of bluetongue in northern Europe in 2006. In addition, disease can emerge in species formerly not considered affected, e.g. the emergence of bovine tuberculosis in wildlife species since 2000 in France. There can also be an unexpected increase of disease incidence in a known area and a known species, or there may simply be an increase in our knowledge or awareness of a particular disease. What all these emerging diseases have in common is that human activity frequently has a role to play in their emergence. For example, bovine spongiform encephalopathy very probably emerged as a result of changes in the manufacturing of meat-and-bone meal, bluetongue was able to spread to cooler climes as a result of uncontrolled trade in animals, and a relaxation of screening and surveillance for bovine tuberculosis enabled the disease to re-emerge in areas that had been able to drastically reduce the number of cases. Globalisation and population growth will continue to affect the epidemiology of diseases in years to come and ecosystems will continue to evolve. Furthermore, new technologies such as metagenomics and high-throughput sequencing are identifying new microorganisms all the time. Change is the one constant, and diseases will continue to emerge, and we must consider the causes and different types of emergence as we deal with these diseases in the future.

  4. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  5. Definably compact groups definable in real closed fields.II

    OpenAIRE

    Barriga, Eliana

    2017-01-01

    We continue the analysis of definably compact groups definable in a real closed field $\\mathcal{R}$. In [3], we proved that for every definably compact definably connected semialgebraic group $G$ over $\\mathcal{R}$ there are a connected $R$-algebraic group $H$, a definable injective map $\\phi$ from a generic definable neighborhood of the identity of $G$ into the group $H\\left(R\\right)$ of $R$-points of $H$ such that $\\phi$ acts as a group homomorphism inside its domain. The above result and o...

  6. Elsberg syndrome

    Science.gov (United States)

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  7. [The refeeding syndrome].

    Science.gov (United States)

    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.

  8. [Refeeding syndrome: practical issues].

    Science.gov (United States)

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

    2015-10-14

    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  9. [Antisynthetase syndrome without muscle involvement].

    Science.gov (United States)

    Júdez Navarro, Enrique; Martínez Carretero, Myriam; Martínez Jiménez, Gonzalo Fidel

    2007-11-01

    Antisynthetase syndrome is a well defined syndrome characterized by the presence of interstitial lung disease in association with arthritis, miositis, mechanic's hands and Ruynaud's phenomenon in the presence of antisynthetase antibodies, especially Ac anti-Jo1. We described the case of a 68-year-old man with this syndrome in the absence of inflammatory muscle disease. Copyright © 2007 Elsevier España S.L Barcelona. Published by Elsevier Espana. All rights reserved.

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

    Science.gov (United States)

    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.

  11. Redefining syndromic surveillance

    Directory of Open Access Journals (Sweden)

    Rebecca Katz

    2011-12-01

    Full Text Available With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field’s capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries.

  12. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  13. Marfan Syndrome

    Science.gov (United States)

    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 ...

  14. Aarskog syndrome

    Science.gov (United States)

    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 ...

  15. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  16. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  17. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  18. Defining pyromes and global syndromes of fire regimes

    CSIR Research Space (South Africa)

    Archibald, S

    2013-04-01

    Full Text Available . Bradstocke aNatural Resources and the Environment, Council for Scientific and Industrial Research, Pretoria 0001, South Africa; bSchool of Animal, Plant and Environmental Sciences, University of the Witwatersrand, Johannesburg 2050, South Africa; c...Department of Biological Sciences, Macquarie University, North Ryde, NSW 2109, Australia; dNational Centre for Earth Observation and Department of Geography, University College London, London WC1E 6BT, United Kingdom; and eInstitute for Conservation Biology...

  19. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    Science.gov (United States)

    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)…

  20. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  1. [Prevention of the refeeding syndrome].

    Science.gov (United States)

    Martínez Núñez, Maria E; Hernández Muniesa, B

    2010-01-01

    The refeeding syndrome can be defined as the metabolic alterations developed by the rapid nutrition repletion (oral, enteral as well as parenteral feeding) of severaly malnourished patients. Refeeding syndrome is a potentially fatal clinical condition and it is often underdiagnosed on non-specialized nutrition units. The most important key for its prevention is to identify patients at high risk for developing refeeding syndrome, before nutrition repletion. The present case describes the steps to prevent the refeeding syndrome as well as the clinical recommendations to restart nutrition support.

  2. Hereditary periodic fever syndromes

    NARCIS (Netherlands)

    McDermott, MF; Frenkel, J

    Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

  3. The Forgotten Syndrome?

    DEFF Research Database (Denmark)

    Jensen, Pernille Vita Fooken; Hansen, Michael Stormly; Møller, Martin Nue

    2016-01-01

    BACKGROUND: Gradenigo's Syndrome (GS) is defined as the clinical triad of acute otitis media, ipsilateral sixth nerve palsy, and pain in the distribution of the first and the second branches of the fifth nerve. The purpose of this study is to review the literature and report 4 cases of GS. METHODS...

  4. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  5. [Congenital sensorineural deafness and associated syndromes].

    Science.gov (United States)

    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.

  6. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    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.

  7. Bardet-Biedl syndrome and Usher syndrome.

    Science.gov (United States)

    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.

  8. Theoretical approaches to elections defining

    OpenAIRE

    Natalya V. Lebedeva

    2011-01-01

    Theoretical approaches to elections defining develop the nature, essence and content of elections, help to determine their place and a role as one of the major national law institutions in democratic system.

  9. Theoretical approaches to elections defining

    Directory of Open Access Journals (Sweden)

    Natalya V. Lebedeva

    2011-01-01

    Full Text Available Theoretical approaches to elections defining develop the nature, essence and content of elections, help to determine their place and a role as one of the major national law institutions in democratic system.

  10. Defining Modules, Modularity and Modularization

    DEFF Research Database (Denmark)

    Miller, Thomas Dedenroth; Pedersen, Per Erik Elgård

    The paper describes the evolution of the concept of modularity in a historical perspective. The main reasons for modularity are: create variety, utilize similarities, and reduce complexity. The paper defines the terms: Module, modularity, and modularization.......The paper describes the evolution of the concept of modularity in a historical perspective. The main reasons for modularity are: create variety, utilize similarities, and reduce complexity. The paper defines the terms: Module, modularity, and modularization....

  11. Unusual headache syndromes.

    Science.gov (United States)

    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.

  12. Sleep overlap syndrome

    Directory of Open Access Journals (Sweden)

    Fariba Rezaeetalab

    2016-12-01

    Full Text Available Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD and obstructive sleep apnea (OSA, was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from either condition alone. Given the high prevalence of each solitary disease, overlap syndrome is also likely to be common and clinically relevant. Despite the fact that overlap syndrome has been described in the literature for nearly 30 years, paucity of evaluations and studies limited the discussion on diagnosis, prevalence, pathophysiology, treatment, and outcomes of this disease. This review article addresses these issues by reviewing several recent studies conducted in Iran or other countries. This review suggests that overlap syndrome has worse outcomes than either disease alone. Our findings accentuated the urgent need for further studies on overlap syndrome and all overlaps between OSA and chronic pulmonary disease to provide a deeper insight into diagnosis and non-invasive treatments of this disease.

  13. Defining Plagiarism: A Literature Review

    Directory of Open Access Journals (Sweden)

    Akbar Akbar

    2018-02-01

    Full Text Available Plagiarism has repeatedly occurred in Indonesia, resulting in focusing on such academic misbehavior as a “central issue” in Indonesian higher education. One of the issues of addressing plagiarism in higher education is that there is a confusion of defining plagiarism. It seems that Indonesian academics had different perception when defining plagiarism. This article aims at exploring the issue of plagiarism by helping define plagiarism to address confusion among Indonesian academics. This article applies literature review by firs finding relevant articles after identifying databases for literature searching. After the collection of required articles for review, the articles were synthesized before presenting the findings. This study has explored the definition of plagiarism in the context of higher education. This research found that plagiarism is defined in the relation of criminal acts. The huge numbers of discursive features used position plagiaristic acts as an illegal deed. This study also found that cultural backgrounds and exposure to plagiarism were influential in defining plagiarism.

  14. Modular Software-Defined Radio

    Directory of Open Access Journals (Sweden)

    Rhiemeier Arnd-Ragnar

    2005-01-01

    Full Text Available In view of the technical and commercial boundary conditions for software-defined radio (SDR, it is suggestive to reconsider the concept anew from an unconventional point of view. The organizational principles of signal processing (rather than the signal processing algorithms themselves are the main focus of this work on modular software-defined radio. Modularity and flexibility are just two key characteristics of the SDR environment which extend smoothly into the modeling of hardware and software. In particular, the proposed model of signal processing software includes irregular, connected, directed, acyclic graphs with random node weights and random edges. Several approaches for mapping such software to a given hardware are discussed. Taking into account previous findings as well as new results from system simulations presented here, the paper finally concludes with the utility of pipelining as a general design guideline for modular software-defined radio.

  15. Defining and Selecting Independent Directors

    Directory of Open Access Journals (Sweden)

    Eric Pichet

    2017-10-01

    Full Text Available Drawing from the Enlightened Shareholder Theory that the author first developed in 2011, this theoretical paper with practical and normative ambitions achieves a better definition of independent director, while improving the understanding of the roles he fulfils on boards of directors. The first part defines constructs like firms, Governance system and Corporate governance, offering a clear distinction between the latter two concepts before explaining the four main missions of a board. The second part defines the ideal independent director by outlining the objective qualities that are necessary and adding those subjective aspects that have turned this into a veritable profession. The third part defines the ideal process for selecting independent directors, based on nominating committees that should themselves be independent. It also includes ways of assessing directors who are currently in function, as well as modalities for renewing their mandates. The paper’s conclusion presents the Paradox of the Independent Director.

  16. Defining and Classifying Interest Groups

    DEFF Research Database (Denmark)

    Baroni, Laura; Carroll, Brendan; Chalmers, Adam

    2014-01-01

    The interest group concept is defined in many different ways in the existing literature and a range of different classification schemes are employed. This complicates comparisons between different studies and their findings. One of the important tasks faced by interest group scholars engaged...... in large-N studies is therefore to define the concept of an interest group and to determine which classification scheme to use for different group types. After reviewing the existing literature, this article sets out to compare different approaches to defining and classifying interest groups with a sample...... in the organizational attributes of specific interest group types. As expected, our comparison of coding schemes reveals a closer link between group attributes and group type in narrower classification schemes based on group organizational characteristics than those based on a behavioral definition of lobbying....

  17. [How to define Alzheimer's disease].

    Science.gov (United States)

    Poncet, Michel

    2011-09-01

    Alzheimer's disease, which was considered to be a rare disease in subjects aged under 65 until the seventies/eighties, has become a very common disease affecting mostly older subjects. Many consider that it is important to review the meaning of the eponym "Alzheimer's disease", and a revolution, quite literally, is likely to occur. The role of vascular lesions in the onset of dementias among older subjects is widely acknowledged; considering those dementias as Alzheimer's disease may have negative consequences for patient management. Indeed, vascular lesions can be prevented and treated, while Alzheimer's lesions cannot. It may be justified to use "Alzheimer syndrome" instead of "Alzheimer's disease" when vascular risk factors and, all the more so, vascular lesions are present. Significant progress has been made in the understanding of the pathological proteins involved in Alzheimer's disease, as well as their effects on neurons and synapses. However, the etiology of the disease is still unknown, except in the rare hereditary cases, and there is no cure for Alzheimer's disease at present. Clinical research is progressing, and diagnostic criteria for the pre-dementia stage of Alzheimer's disease were suggested. In France, the outstanding Alzheimer plan 2008-2012 should play an important role in enhancing the understanding of Alzheimer's disease, Alzheimer's syndromes and related disorders.

  18. Cushing's Syndrome

    Science.gov (United States)

    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 ...

  19. Usher Syndrome

    Science.gov (United States)

    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 ...

  20. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  1. Reye Syndrome

    Science.gov (United States)

    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, ...

  2. Rett Syndrome

    Science.gov (United States)

    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. ...

  3. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  4. Turner Syndrome

    Science.gov (United States)

    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 ...

  5. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  6. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  7. Felty syndrome

    Science.gov (United States)

    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 ...

  8. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  9. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  10. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  11. ON DEFINING S-SPACES

    Directory of Open Access Journals (Sweden)

    Francesco Strati

    2013-05-01

    Full Text Available The present work is intended to be an introduction to the Superposition Theory of David Carfì. In particular I shall depict the meaning of his brand new theory, on the one hand in an informal fashion and on the other hand by giving a formal approach of the algebraic structure of the theory: the S-linear algebra. This kind of structure underpins the notion of S-spaces (or Carfì-spaces by defining both its properties and its nature. Thus I shall define the S-triple as the fundamental principle upon which the S-linear algebra is built up.

  12. Down Syndrome

    Science.gov (United States)

    ... 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. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  14. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  15. Defining and Differentiating the Makerspace

    Science.gov (United States)

    Dousay, Tonia A.

    2017-01-01

    Many resources now punctuate the maker movement landscape. However, some schools and communities still struggle to understand this burgeoning movement. How do we define these spaces and differentiate them from previous labs and shops? Through a multidimensional framework, stakeholders should consider how the structure, access, staffing, and tools…

  16. Indico CONFERENCE: Define the Programme

    CERN Multimedia

    CERN. Geneva; Ferreira, Pedro

    2017-01-01

    In this tutorial you are going to learn how to define the programme of a conference in Indico. The program of your conference is divided in different “tracks”. Tracks represent the subject matter of the conference, such as “Online Computing”, “Offline Computing”, and so on.

  17. Clinical update on metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Juan Diego Hernández-Camacho

    2017-12-01

    Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

  18. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  19. Pseudohypopituitary syndromes.

    Science.gov (United States)

    Heinze, E; Holl, R W

    1992-07-01

    In a child with short stature, the finding of normal or elevated GH levels in the presence of low concentrations of IGF-I raises the following possibilities. (1) A modification of the GH molecule, which is still detected by RIA, but inactive biologically. Therefore, an RRA or bioassay for hGH should result in considerably lower GH measurements compared with RIA determinations in the same sample. As both bioassays as well as RRAs are not widely available and are hampered by several difficulties, few children with this presumptive diagnosis have been described. So far, it has not been possible to define a specific molecular defect in one of these patients. (2) Abnormalities of the GH receptor or postreceptor mechanisms lead to a GH insensitivity syndrome. Laron-type dwarfism is usually due to a deletion in the gene for hepatic GH receptors: the serum binding protein for GH is absent. In three additional populations, the Pygmies of Zaire, the little women of Loja in Ecuador and the Mountain Ok people in Papua New Guinea, alterations of GH receptor function have been described. Finally, some reports describe patients with normal or elevated serum levels of both growth hormone and IGF-I in whom resistance to IGF has been implied in the pathogenesis of small stature.

  20. How do people define moderation?

    Science.gov (United States)

    vanDellen, Michelle R; Isherwood, Jennifer C; Delose, Julie E

    2016-06-01

    Eating in moderation is considered to be sound and practical advice for weight maintenance or prevention of weight gain. However, the concept of moderation is ambiguous, and the effect of moderation messages on consumption has yet to be empirically examined. The present manuscript examines how people define moderate consumption. We expected that people would define moderate consumption in ways that justified their current or desired consumption rather than view moderation as an objective standard. In Studies 1 and 2, moderate consumption was perceived to involve greater quantities of an unhealthy food (chocolate chip cookies, gummy candies) than perceptions of how much one should consume. In Study 3, participants generally perceived themselves to eat in moderation and defined moderate consumption as greater than their personal consumption. Furthermore, definitions of moderate consumption were related to personal consumption behaviors. Results suggest that the endorsement of moderation messages allows for a wide range of interpretations of moderate consumption. Thus, we conclude that moderation messages are unlikely to be effective messages for helping people maintain or lose weight. Copyright © 2016 Elsevier Ltd. All rights reserved.

  1. Two cases of Cantrell's syndrome

    International Nuclear Information System (INIS)

    Yu, Yun Jeong; Yeon, Kyung Mo

    1982-01-01

    Congenital absence of the lower sternum, defect of the abdominal wall, defects of the anterior diaphragm, pericardial defects and cardiac anomalies had been described as a syndrome by Cantrell et al. Developing mechanism of the syndrome was embryologically defined. These defects arise apparently from combined anomalies of developing of the dorsal mesoderm. The authors present two cases of Cantrell's syndrome developed in one day old and eight months old female patient in which angiocardiography was done at the Department of Radiology, Seoul National University Hospital

  2. Ectodermal dysplasia (ED) syndrome.

    Science.gov (United States)

    Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

    2014-01-01

    Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

  3. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    DEFF Research Database (Denmark)

    Gabriele, Michele; Vulto-van Silfhout, Anneke T; Germain, Pierre-Luc

    2017-01-01

    that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin...... on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators....

  4. Seckel syndrome: A report of a case

    OpenAIRE

    K Ramalingam; S D Kaliyamurthy; M Govindarajan; S Swathi

    2012-01-01

    Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limit...

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

    Science.gov (United States)

    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.

  6. Network Coded Software Defined Networking

    DEFF Research Database (Denmark)

    Krigslund, Jeppe; Hansen, Jonas; Roetter, Daniel Enrique Lucani

    2015-01-01

    Software Defined Networking (SDN) and Network Coding (NC) are two key concepts in networking that have garnered a large attention in recent years. On the one hand, SDN's potential to virtualize services in the Internet allows a large flexibility not only for routing data, but also to manage....... This paper advocates for the use of SDN to bring about future Internet and 5G network services by incorporating network coding (NC) functionalities. The inherent flexibility of both SDN and NC provides a fertile ground to envision more efficient, robust, and secure networking designs, that may also...

  7. Network Coded Software Defined Networking

    DEFF Research Database (Denmark)

    Hansen, Jonas; Roetter, Daniel Enrique Lucani; Krigslund, Jeppe

    2015-01-01

    Software defined networking has garnered large attention due to its potential to virtualize services in the Internet, introducing flexibility in the buffering, scheduling, processing, and routing of data in network routers. SDN breaks the deadlock that has kept Internet network protocols stagnant...... for decades, while applications and physical links have evolved. This article advocates for the use of SDN to bring about 5G network services by incorporating network coding (NC) functionalities. The latter constitutes a major leap forward compared to the state-of-the- art store and forward Internet paradigm...

  8. (Re)Defining Salesperson Motivation

    DEFF Research Database (Denmark)

    Khusainova, Rushana; de Jong, Ad; Lee, Nick

    2018-01-01

    The construct of motivation is one of the central themes in selling and sales management research. Yet, to-date no review article exists that surveys the construct (both from an extrinsic and intrinsic motivation context), critically evaluates its current status, examines various key challenges...... apparent from the extant research, and suggests new research opportunities based on a thorough review of past work. The authors explore how motivation is defined, major theories underpinning motivation, how motivation has historically been measured, and key methodologies used over time. In addition......, attention is given to principal drivers and outcomes of salesperson motivation. A summarizing appendix of key articles in salesperson motivation is provided....

  9. Defining Usability of PN Services

    DEFF Research Database (Denmark)

    Nicolajsen, Hanne Westh; Ahola, Titta; Fleury, Alexandre

    In this deliverable usability and user experience are defined in relation to MAGNET Beyond technologies, and it is described how the main MAGNET Beyond concepts can be evaluated through the involvement of users. The concepts include the new "Activity based communication approach" for interacting...... with the MAGNET Beyond system, as well as the core concepts: Personal Network, Personal Network-Federation, Service Discovery, User Profile Management, Personal Network Management, Privacy and Security and Context Awareness. The overall plans for the final usability evaluation are documented based on the present...

  10. Eagle syndrome. A narrative review

    Directory of Open Access Journals (Sweden)

    Heber Arbildo

    2016-09-01

    Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

  11. Expressiveness and definability in circumscription

    Directory of Open Access Journals (Sweden)

    Francicleber Martins Ferreira

    2011-06-01

    Full Text Available We investigate expressiveness and definability issues with respect to minimal models, particularly in the scope of Circumscription. First, we give a proof of the failure of the Löwenheim-Skolem Theorem for Circumscription. Then we show that, if the class of P; Z-minimal models of a first-order sentence is Δ-elementary, then it is elementary. That is, whenever the circumscription of a first-order sentence is equivalent to a first-order theory, then it is equivalent to a finitely axiomatizable one. This means that classes of models of circumscribed theories are either elementary or not Δ-elementary. Finally, using the previous result, we prove that, whenever a relation Pi is defined in the class of P; Z-minimal models of a first-order sentence Φ and whenever such class of P; Z-minimal models is Δ-elementary, then there is an explicit definition ψ for Pi such that the class of P; Z-minimal models of Φ is the class of models of Φ ∧ ψ. In order words, the circumscription of P in Φ with Z varied can be replaced by Φ plus this explicit definition ψ for Pi.

  12. Defining Quality in Undergraduate Education

    Directory of Open Access Journals (Sweden)

    Alison W. Bowers

    2018-01-01

    Full Text Available Objectives: This research brief explores the literature addressing quality in undergraduate education to identify what previous research has said about quality and to offer future directions for research on quality in undergraduate education. Method: We conducted a scoping review to provide a broad overview of existing research. Using targeted search terms in academic databases, we identified and reviewed relevant academic literature to develop emergent themes and implications for future research. Results: The exploratory review of the literature revealed a range of thoughtful discussions and empirical studies attempting to define quality in undergraduate education. Many publications highlighted the importance of including different stakeholder perspectives and presented some of the varying perceptions of quality among different stakeholders. Conclusions: While a number of researchers have explored and written about how to define quality in undergraduate education, there is not a general consensus regarding a definition of quality in undergraduate education. Past research offers a range of insights, models, and data to inform future research. Implication for Theory and/or Practice: We provide four recommendations for future research to contribute to a high quality undergraduate educational experience. We suggest more comprehensive systematic reviews of the literature as a next step.

  13. Androgenic Hormones In Relation To Parameters of the Metabolic Syndrome in male patients

    International Nuclear Information System (INIS)

    Shousha, M. A.; Soliman, S. E.; Semna, S. G.

    2012-12-01

    Back ground and aim of the work :The numerous deleterious effects of metabolic syndrome are being investigated throughout the medical community. Hypo-androgenomes in men is associated with features of the metabolic syndrome, even it may predict the metabolic syndrome, but the association with the metabolic syndrome it self using an accepted definition has not been described. A group 40 men defined as metabolic syndrome were assessed to investigate the relationship between androgenic hormones and parameters of the metabolic syndrome. (Author)

  14. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  15. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  16. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  17. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  18. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... 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 ...

  19. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  20. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  1. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  2. Defining the "normal" postejaculate urinalysis.

    Science.gov (United States)

    Mehta, Akanksha; Jarow, Jonathan P; Maples, Pat; Sigman, Mark

    2012-01-01

    Although sperm have been shown to be present in the postejaculate urinalysis (PEU) of both fertile and infertile men, the number of sperm present in the PEU of the general population has never been well defined. The objective of this study was to describe the semen and PEU findings in both the general and infertile population, in order to develop a better appreciation for "normal." Infertile men (n = 77) and control subjects (n = 71) were prospectively recruited. Exclusion criteria included azoospermia and medications known to affect ejaculation. All men underwent a history, physical examination, semen analysis, and PEU. The urine was split into 2 containers: PEU1, the initial voided urine, and PEU2, the remaining voided urine. Parametric statistical methods were applied for data analysis to compare sperm concentrations in each sample of semen and urine between the 2 groups of men. Controls had higher average semen volume (3.3 ± 1.6 vs 2.0 ± 1.4 mL, P sperm concentrations (112 million vs 56.2 million, P = .011), compared with infertile men. The presence of sperm in urine was common in both groups, but more prevalent among infertile men (98.7% vs 88.7%, P = .012), in whom it comprised a greater proportion of the total sperm count (46% vs 24%, P = .022). The majority of sperm present in PEU were seen in PEU1 of both controls (69%) and infertile men (88%). An association was noted between severe oligospermia (sperm counts in PEU (sperm in the urine compared with control, there is a large degree of overlap between the 2 populations, making it difficult to identify a specific threshold to define a positive test. Interpretation of a PEU should be directed by whether the number of sperm in the urine could affect subsequent management.

  3. Miniature EVA Software Defined Radio

    Science.gov (United States)

    Pozhidaev, Aleksey

    2012-01-01

    As NASA embarks upon developing the Next-Generation Extra Vehicular Activity (EVA) Radio for deep space exploration, the demands on EVA battery life will substantially increase. The number of modes and frequency bands required will continue to grow in order to enable efficient and complex multi-mode operations including communications, navigation, and tracking applications. Whether conducting astronaut excursions, communicating to soldiers, or first responders responding to emergency hazards, NASA has developed an innovative, affordable, miniaturized, power-efficient software defined radio that offers unprecedented power-efficient flexibility. This lightweight, programmable, S-band, multi-service, frequency- agile EVA software defined radio (SDR) supports data, telemetry, voice, and both standard and high-definition video. Features include a modular design, an easily scalable architecture, and the EVA SDR allows for both stationary and mobile battery powered handheld operations. Currently, the radio is equipped with an S-band RF section. However, its scalable architecture can accommodate multiple RF sections simultaneously to cover multiple frequency bands. The EVA SDR also supports multiple network protocols. It currently implements a Hybrid Mesh Network based on the 802.11s open standard protocol. The radio targets RF channel data rates up to 20 Mbps and can be equipped with a real-time operating system (RTOS) that can be switched off for power-aware applications. The EVA SDR's modular design permits implementation of the same hardware at all Network Nodes concept. This approach assures the portability of the same software into any radio in the system. It also brings several benefits to the entire system including reducing system maintenance, system complexity, and development cost.

  4. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  5. Tourette Syndrome

    Science.gov (United States)

    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 ...

  6. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  8. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  9. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  10. TAFRO Syndrome.

    Science.gov (United States)

    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.

  11. The benefits of defining "snacks".

    Science.gov (United States)

    Hess, Julie M; Slavin, Joanne L

    2018-04-18

    Whether eating a "snack" is considered a beneficial or detrimental behavior is largely based on how "snack" is defined. The term "snack food" tends to connote energy-dense, nutrient-poor foods high in nutrients to limit (sugar, sodium, and/or saturated fat) like cakes, cookies, chips and other salty snacks, and sugar-sweetened beverages. Eating a "snack food" is often conflated with eating a "snack," however, leading to an overall perception of snacks as a dietary negative. Yet the term "snack" can also refer simply to an eating occasion outside of breakfast, lunch, or dinner. With this definition, the evidence to support health benefits or detriments to eating a "snack" remains unclear, in part because relatively few well-designed studies that specifically focus on the impact of eating frequency on health have been conducted. Despite these inconsistencies and research gaps, in much of the nutrition literature, "snacking" is still referred to as detrimental to health. As discussed in this review, however, there are multiple factors that influence the health impacts of snacking, including the definition of "snack" itself, the motivation to snack, body mass index of snack eaters, and the food selected as a snack. Without a definition of "snack" and a body of research using methodologically rigorous protocols, determining the health impact of eating a "snack" will continue to elude the nutrition research community and prevent the development of evidence-based policies about snacking that support public health. Copyright © 2018 Elsevier Inc. All rights reserved.

  12. Seckel syndrome: a report of a case.

    Science.gov (United States)

    Ramalingam, K; Kaliyamurthy, S D; Govindarajan, M; Swathi, S

    2012-01-01

    Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

  13. Seckel syndrome: A report of a case

    Directory of Open Access Journals (Sweden)

    K Ramalingam

    2012-01-01

    Full Text Available Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000, genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia, and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

  14. Defining safety goals. 2. Basic Consideration on Defining Safety Goals

    International Nuclear Information System (INIS)

    Hakata, T.

    2001-01-01

    cancer and severe hereditary effects are 10 x 10 -2 /Sv and 1.3 x10 -2 /Sv, respectively. The basic safety goals can be expressed by the complementary accumulative distribution function (CCDF) of dose versus frequencies of events: Pc(C > Cp) 5 (Cp/Co) -α . The aversion factor a is here expressed by the following arbitrary equation, which gives a polynomial curve of the order of m on a logarithmic plane: α = a+b(log(Cp/Co)) m , where: Pc = CCDF frequency for Cp (/yr), Cp = dose (mSv), Co = Cp for Pc =1, a, b, m = constants. Figure 1 shows a typical tolerable risk profile (risk limit curve), which is drawn so that all the points obtained in the previous discussions are above the curve (Co=1, a=1, b=0.0772, and m = 2). Safety criteria by ANS (Ref. 2) and SHE (Ref. 3) are shown in Fig. 1 for comparison. An aversion of a factor of 2 is resulted between 1 mSv and 1 Sv. No ALARA is included, which must be considered in defining specific safety goals. The frequency of a single class of events must be lower than the CCDF profile, and a curve lower by a factor of 10 is drawn in Fig. 1. The doses referenced in the current Japanese safety guidelines and site criteria are shown in Fig. 1. The referenced doses seem reasonable, considering the conservatism in the analysis of design-basis accidents. Specific safety goals for each sort of facility can be defined based on the basic safety goals, reflecting the characteristics of the facilities and considering ALARA. The indexes of engineering terms, such as CMF and LERF, are preferable for nuclear power plants, although interpretation from dose to the engineering terms is needed. Other indexes may be used (such as frequency of criticality accidents, etc.) for facilities except for power plants. The applicability of safety goals will thus be improved. Figure 2 shows the relative risk factors (1, 1%, and 0.1%) versus the severity of radiation effects. This might indicate the adequacy of the risk factors. The absolute risk limits, which

  15. [Asthma-COPD overlap syndrome].

    Science.gov (United States)

    Odler, Balázs; Müller, Veronika

    2016-08-01

    Obstructive lung diseases represent a major health problem worldwide due to their high prevalence associated with elevated socioeconomic costs. Bronchial asthma and chronic obstructive pulmonary disease are chronic obstructive ventilatory disorders with airway inflammation, however they are separate nosological entities based on thedifferent development, diagnostic and therapeutic approaches, and prognostic features. However, these diseases may coexist and can be defined as the coexistence of increased variability of airflow in a patient with incompletely reversible airway obstruction. This phenotype is called asthma - chronic obstructive pulmonary disease overlap syndrome. The syndrome is a clinical and scientific challenge as the majority of these patients have been excluded from the clinical and pharmacological trials, thus well-defined clinical characteristics and therapeutic approaches are lacking. The aim of this review is to summarize the currently available literature focusing on pathophysiological and clinical features, and discuss possible therapeutic approaches of patients with asthma - chronic obstructive pulmonary disease overlap syndrome. Orv. Hetil., 2016, 157(33), 1304-1313.

  16. Defining Tobacco Regulatory Science Competencies.

    Science.gov (United States)

    Wipfli, Heather L; Berman, Micah; Hanson, Kacey; Kelder, Steven; Solis, Amy; Villanti, Andrea C; Ribeiro, Carla M P; Meissner, Helen I; Anderson, Roger

    2017-02-01

    In 2013, the National Institutes of Health and the Food and Drug Administration funded a network of 14 Tobacco Centers of Regulatory Science (TCORS) with a mission that included research and training. A cross-TCORS Panel was established to define tobacco regulatory science (TRS) competencies to help harmonize and guide their emerging educational programs. The purpose of this paper is to describe the Panel's work to develop core TRS domains and competencies. The Panel developed the list of domains and competencies using a semistructured Delphi method divided into four phases occurring between November 2013 and August 2015. The final proposed list included a total of 51 competencies across six core domains and 28 competencies across five specialized domains. There is a need for continued discussion to establish the utility of the proposed set of competencies for emerging TRS curricula and to identify the best strategies for incorporating these competencies into TRS training programs. Given the field's broad multidisciplinary nature, further experience is needed to refine the core domains that should be covered in TRS training programs versus knowledge obtained in more specialized programs. Regulatory science to inform the regulation of tobacco products is an emerging field. The paper provides an initial list of core and specialized domains and competencies to be used in developing curricula for new and emerging training programs aimed at preparing a new cohort of scientists to conduct critical TRS research. © The Author 2016. Published by Oxford University Press on behalf of the Society for Research on Nicotine and Tobacco. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  17. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

    Directory of Open Access Journals (Sweden)

    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  18. Defining functional dyspepsia Definiendo la dispepsia funcional

    Directory of Open Access Journals (Sweden)

    Fermín Mearin

    2011-12-01

    Full Text Available Dyspepsia and functional dyspepsia represent a highly significant public health issue. A good definition of dyspepsia is key for helping us to better approach symptoms, decision making, and therapy indications. During the last few years many attempts were made at establishing a definition of dyspepsia. Results were little successful on most occasions, and clear discrepancies arose on whether symptoms should be associated with digestion, which types of symptoms were to be included, which anatomic location should symptoms have, etc. The Rome III Committee defined dyspepsia as "a symptom or set of symptoms that most physicians consider to originate from the gastroduodenal area", including the following: postprandial heaviness, early satiety, and epigastric pain or burning. Two new entities were defined: a food-induced dyspeptic symptoms (postprandial distress syndrome; and b epigastric pain (epigastric pain syndrome. These and other definitions have shown both strengths and weaknesses. At times they have been much too complex, at times much too simple; furthermore, they have commonly erred on the side of being inaccurate and impractical. On the other hand, some (the most recent ones are difficult to translate into the Spanish language. In a meeting of gastroenterologists with a special interest in digestive functional disorders, the various aspects of dyspepsia definition were discussed and put to the vote, and the following conclusions were arrived at: dyspepsia is defined as a set of symptoms, either related or unrelated to food ingestion, localized on the upper half of the abdomen. They include: a epigastric discomfort (as a category of severity or pain; b postprandial heaviness; and c early satiety. Associated complaints include: nausea, belching, bloating, and epigastric burn (heartburn. All these must be scored according to severity and frequency. Furthermore, psychological factors may be involved in the origin of functional dyspepsia. On the

  19. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  20. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  1. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  2. [Visual diagnosis: Waardenburg syndrome].

    Science.gov (United States)

    Hager, T; Walter, H-S; Seitz, B; Käsmann-Kellner, B

    2010-07-01

    Waardenburg syndrome (WS) is a rare disease characterized by a sensorineural hearing loss and pigment anomalies of the iris, skin and hair due to mutations in PAX3. WS can be subdivided into four groups according to major and minor clinical signs. We report the case of a 2 1/2-year-old coloured patient who presented in our department of paediatric ophthalmology for a syndrome search. The patient presented with hearing loss, brilliant blue iris colour and dystopia canthorum. The patient was slightly hypermetropic. Visual acuity was within normal limits according to the Cardiff acuity test. The ocular fundus examination revealed no abnormalities. According to the major and minor criteria defined by the Waardenburg consortium our patient showed the major criteria of WS1, i.e. hearing loss, hypopigmentation of the pigment epithelium of the iris and dystopic canthi. Diagnosis of WS is usually based on the clinical presentation. An additional molecular genetic analysis is possible.

  3. A multicenter study on Leigh syndrome

    DEFF Research Database (Denmark)

    Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo

    2014-01-01

    BACKGROUND: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural...... history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. METHODS: This is a retrospective study of patients with Leigh syndrome...... to thrive, brainstem lesions on neuroimaging and intensive care treatment were significantly associated with poorer survival. CONCLUSIONS: This is a multicenter study performed in a large cohort of patients with Leigh syndrome. Our data help define the natural history of Leigh syndrome and identify novel...

  4. Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy

    NARCIS (Netherlands)

    Stenzel, Werner; Preuße, Corinna; Allenbach, Yves; Pehl, Debora; Junckerstorff, Reimar; Heppner, Frank L.; Nolte, Kay; Aronica, Eleonora; Kana, Veronika; Rushing, Elisabeth; Schneider, Udo; Claeys, Kristl G.; Benveniste, Olivier; Weis, Joachim; Goebel, Hans H.

    2015-01-01

    To analyze antisynthetase syndrome-associated myositis by modern myopathologic methods and to define its place in the spectrum of idiopathic inflammatory myopathies (IIMs). Skeletal muscle biopsies from antisynthetase syndrome-associated myositis and other IIMs from different institutions worldwide

  5. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  6. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  7. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  8. [Refeeding syndrome].

    Science.gov (United States)

    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.

  9. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  10. Alagille Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  11. Reye Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  12. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  13. Cushing's Syndrome

    Science.gov (United States)

    ... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

  14. Levator Syndrome

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse (See ... out other painful rectal conditions (such as thrombosed hemorrhoids , fissures , or abscesses ). The physical examination is often ...

  15. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  16. Gilbert's Syndrome

    Science.gov (United States)

    ... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

  17. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  18. Moebius Syndrome

    Science.gov (United States)

    ... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

  19. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of...

  20. Angelman Syndrome

    Science.gov (United States)

    ... therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. × Treatment There ...

  1. Joubert Syndrome

    Science.gov (United States)

    ... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

  2. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  3. Nephrotic Syndrome

    Science.gov (United States)

    ... your blood — typically with an artificial kidney machine (dialyzer). Chronic kidney disease. Nephrotic syndrome may cause your ... opportunities Reprint Permissions A single copy of these materials may be reprinted for noncommercial personal use only. " ...

  4. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  5. Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  6. Eagle's Syndrome

    OpenAIRE

    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 diffic...

  7. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  8. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  9. [Poland's syndrome].

    Science.gov (United States)

    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.

  10. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  11. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... 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 ...

  12. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  13. Exogenous Cushing syndrome

    Science.gov (United States)

    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 ...

  14. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... 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 ...

  15. Stylocarotid syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Petrović Branko

    2008-01-01

    Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

  16. Etiopathogenetic mechanisms of fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    R.H. Gracely

    2011-09-01

    Full Text Available Fibromyalgia syndrome (FMS is a common chronic condition of widespread pain with causal mechanisms that are largely unknown. It is characterized by moderate to severe musculoskel - etal pain and allodynia, but its pathogenesis appears confined to the nociceptive structures of the central nervous system. From a pathogenetic point of view, indeed, no clear muscle pathology has been demonstrated in FMS (1, 2, while increasing evidence suggests a disturbance in pain perception that is genetically conditioned. In our review we will consider five “keypoints” that we think determine the origin and maintenance of the pain syndrome that we define as fibromyalgia...

  17. Variable impact on mortality of AIDS-defining events diagnosed during combination antiretroviral therapy

    DEFF Research Database (Denmark)

    Mocroft, Amanda; Sterne, Jonathan A C; Egger, Matthias

    2009-01-01

    BACKGROUND: The extent to which mortality differs following individual acquired immunodeficiency syndrome (AIDS)-defining events (ADEs) has not been assessed among patients initiating combination antiretroviral therapy. METHODS: We analyzed data from 31,620 patients with no prior ADEs who started...... studies, and patient management....

  18. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  19. Indico CONFERENCE: Define the Call for Abstracts

    CERN Multimedia

    CERN. Geneva; Ferreira, Pedro

    2017-01-01

    In this tutorial, you will learn how to define and open a call for abstracts. When defining a call for abstracts, you will be able to define settings related to the type of questions asked during a review of an abstract, select the users who will review the abstracts, decide when to open the call for abstracts, and more.

  20. On defining semantics of extended attribute grammars

    DEFF Research Database (Denmark)

    Madsen, Ole Lehrmann

    1980-01-01

    Knuth has introduced attribute grammars (AGs) as a tool to define the semanitcs of context-free languages. The use of AGs in connection with programming language definitions has mostly been to define the context-sensitive syntax of the language and to define a translation in code for a hypothetic...

  1. Languages for Software-Defined Networks

    Science.gov (United States)

    2013-02-01

    switches, firewalls, and middleboxes) with closed and proprietary configuration inter- faces. Software - Defined Networks ( SDN ) are poised to change...how- ever, have seen growing interest in software - defined networks ( SDNs ), in which a logically-centralized controller manages the packet-processing...switches, firewalls, and middleboxes) with closed and proprietary configuration interfaces. Software - Defined Networks ( SDN ) are poised to change this

  2. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    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 ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  3. Comparison of metabolic syndrome with growing epidemic syndrome Z in terms of risk factors and gender differences.

    Science.gov (United States)

    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

  4. Drug hypersensitivity syndrome

    Directory of Open Access Journals (Sweden)

    Rashmi Kumari

    2011-01-01

    Full Text Available Drug hypersensitivity syndrome (DHS is an adverse drug reaction commonly associated with the aromatic antiepileptic drugs (AEDs, viz., phenytoin (PHT, carbamazepine (CBZ, phenobarbital (PB, lamotrigine, primidone, etc. It can also be caused by other drugs, such as sulfonamides, dapsone, minocycline, gold derivatives, cyclosporine, captopril, diltiazem, terbinafine, azathioprine and allopurinol. Diagnosis of DHS may be difficult because of the variety of clinical and laboratory abnormalities and manifestations and because the syndrome may mimic infectious, neoplastic or collagen vascular disorders. The risk for developing hypersensitivity within 60 days of the first or second prescription in new users of PHT or CBZ was estimated to be 2.3-4.5 per 10,000 and 1-4.1 per 10,000, respectively. The syndrome is defined by the fever, skin rash, lymphadenopathy and internal organ involvement within the first 2-8 weeks after initiation of therapy. Internal manifestations include, among others, agranulocytosis, hepatitis, nephritis and myositis. Insufficient detoxification may lead to cell death or contribute to the formation of antigen that triggers an immune reaction. Cross-reactivity among PHT, CBZ and PB is as high as 70%-80%. Management mainly includes immediate withdrawal of the culprit drug, symptomatic treatment and systemic steroids or immunoglobulins.

  5. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  6. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  7. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  8. Eagle's Syndrome

    Science.gov (United States)

    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

  9. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available 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.

  10. Digital disruption ?syndromes.

    Science.gov (United States)

    Sullivan, Clair; Staib, Andrew

    2017-05-18

    The digital transformation of hospitals in Australia is occurring rapidly in order to facilitate innovation and improve efficiency. Rapid transformation can cause temporary disruption of hospital workflows and staff as processes are adapted to the new digital workflows. The aim of this paper is to outline various types of digital disruption and some strategies for effective management. A large tertiary university hospital recently underwent a rapid, successful roll-out of an integrated electronic medical record (EMR). We observed this transformation and propose several digital disruption "syndromes" to assist with understanding and management during digital transformation: digital deceleration, digital transparency, digital hypervigilance, data discordance, digital churn and post-digital 'depression'. These 'syndromes' are defined and discussed in detail. Successful management of this temporary digital disruption is important to ensure a successful transition to a digital platform. What is known about this topic? Digital disruption is defined as the changes facilitated by digital technologies that occur at a pace and magnitude that disrupt established ways of value creation, social interactions, doing business and more generally our thinking. Increasing numbers of Australian hospitals are implementing digital solutions to replace traditional paper-based systems for patient care in order to create opportunities for improved care and efficiencies. Such large scale change has the potential to create transient disruption to workflows and staff. Managing this temporary disruption effectively is an important factor in the successful implementation of an EMR. What does this paper add? A large tertiary university hospital recently underwent a successful rapid roll-out of an integrated electronic medical record (EMR) to become Australia's largest digital hospital over a 3-week period. We observed and assisted with the management of several cultural, behavioural and

  11. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  12. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  13. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  14. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  15. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  16. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  17. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  18. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  19. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  20. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  1. Meigs' Syndrome

    International Nuclear Information System (INIS)

    Baloch, S.; Khaskheli, M.; Farooq, S.

    2006-01-01

    Meigs' syndrome is a rare clinical condition commonly considered to be associated with malignant ovarian tumour. A case of unmarried female is presented who came with a slowly increasing abdominal mass. Clinical and ultrasonic investigations revealed a mobile, solid right adenexal tumour in the lower abdomen, along with ascites and pleural effusion of the right lung. The level of CA 125 was also raised. Diagnosis of Meigs' syndrome was confirmed after surgical intervention. The tumour was successfully removed and pleural effusion disappeared 15 days after the intervention. Cytomorphologic study of both the tumour and ascitic fluid was negative for malignancy. (author)

  2. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  3. Lynch syndrome-related small intestinal adenocarcinomas.

    Science.gov (United States)

    Jun, Sun-Young; Lee, Eui-Jin; Kim, Mi-Ju; Chun, Sung Min; Bae, Young Kyung; Hong, Soon Uk; Choi, Jene; Kim, Joon Mee; Jang, Kee-Taek; Kim, Jung Yeon; Kim, Gwang Il; Jung, Soo Jin; Yoon, Ghilsuk; Hong, Seung-Mo

    2017-03-28

    Lynch syndrome is an autosomal-dominant disorder caused by defective DNA mismatch repair (MMR) genes and is associated with increased risk of malignancies in multiple organs. Small-intestinal adenocarcinomas are common initial manifestations of Lynch syndrome. To define the incidence and characteristics of Lynch syndrome-related small-intestinal adenocarcinomas, meticulous familial and clinical histories were obtained from 195 patients with small-intestinal adenocarcinoma, and MMR protein immunohistochemistry, microsatellite instability, MLH1 methylation, and germline mutational analyses were performed. Lynch syndrome was confirmed in eight patients (4%), all of whom had synchronous/metachronous malignancies without noticeable familial histories. Small-intestinal adenocarcinomas were the first clinical manifestation in 37% (3/8) of Lynch syndrome patients, and second malignancies developed within 5 years in 63% (5/8). The patients with accompanying Lynch syndrome were younger (≤50 years; P=0.04) and more likely to have mucinous adenocarcinomas (P=0.003), and tended to survive longer (P=0.11) than those with sporadic cases. A meticulous patient history taking, MMR protein immunolabeling, and germline MMR gene mutational analysis are important for the diagnosis of Lynch syndrome-related small-intestinal adenocarcinomas. Identifying Lynch syndrome in patients with small-intestinal adenocarcinoma can be beneficial for the early detection and treatment of additional Lynch syndrome-related cancers, especially in patients who are young or have mucinous adenocarcinomas.

  4. Spoiled child syndrome.

    Science.gov (United States)

    McIntosh, B J

    1989-01-01

    People often speak of children as being "spoiled" and many parents worry about the possibility of spoiling their infants and children. Many pediatricians, however, are uncomfortable with this term because it is a poorly defined and derogatory expression. Some would even deny that infants and children can be spoiled. Avoiding the use of the expression spoiled can create difficulties in communicating with parents concerned about their children's behavior. In this article, the spoiled child syndrome will be defined and those patterns of behavior that characterize it will be distinguished from other patterns of difficult behavior which may be confused with it. The spoiled child syndrome is characterized by excessive self-centered and immature behavior, resulting from the failure of parents to enforce consistent, age-appropriate limits. Many of the problem behaviors that cause parental concern are unrelated to spoiling as properly understood. Such behaviors are often age-related normal behaviors, reactions to family stresses, or patterns of behavior determined by factors inherent in the child. Pediatricians can provide counseling and reassurance for such behaviors and, by helping parents understand the etiology of true spoiling, can encourage the use of behavior modification techniques for its prevention and treatment.

  5. [Obesity-hypoventilation syndrome].

    Science.gov (United States)

    Weitzenblum, E; Kessler, R; Canuet, M; Chaouat, A

    2008-04-01

    The obesity-hypoventilation syndrome (OHS), or alveolar hypoventilation in the obese, has been described initially as the "Pickwickian syndrome". It is defined as chronic alveolar hypoventilation (PaO2 or =45 mmHg) in obese patients (body mass index>30 kg/m2) who have no other respiratory disease explaining the hypoxemia-hypercapnia. The large majority of obese subjects are not hypercapnic, even in case of severe obesity (>40 kg/m2). There are three principal causes, which can be associated, explaining alveolar hypoventilation in obese subjects: high cost of respiration and weakness of the respiratory muscles (probably the major cause), dysfunction of the respiratory centers with diminished chemosensitivity, long-term effects of the repeated episodes of obstructive sleep apneas observed in some patients. The role of leptin (hormone produced by adipocytes) in the pathogenesis of this syndrome, has been recently advocated. OHS is generally observed in subjects over 50 years. Its prevalence has markedly increased in recent years, probably due to the present "epidemic" of obesity. The diagnosis is often made after an episode of severe respiratory failure. Comorbidities, favored by obesity, are very frequent: systemic hypertension, left heart diseases, diabetes. OHS must be distinguished from obstructive sleep apnea syndrome (OSAS) even if the two conditions are often associated. OSAS may be absent in certain patients with OHS (20% of the patients in our experience). On the other hand obesity may be absent in certain patients with OSAS. Losing weight is the "ideal" treatment of OHS but in fact it cannot be obtained in most patients. Nocturnal ventilation (continuous positive airway pressure and mainly bilevel non invasive ventilation) is presently the best treatment of OHS and excellent short and long-term results on symptoms and arterial blood gases have been recently reported.

  6. Progress in research on Tourette syndrome

    Science.gov (United States)

    Black, Kevin J.; Jankovic, Joseph; Hershey, Tamara; McNaught, Kevin St. P.; Mink, Jonathan W.; Walkup, John

    2014-01-01

    Tourette syndrome (TS) is a heritable neuropsychiatric disorder commonly complicated by obsessions and compulsions, but defined by frequent unwanted movements (motor tics) and vocalizations (phonic tics) that develop in childhood or adolescence. In recent years, research on TS has progressed rapidly on several fronts. Inspired by the Fifth International Scientific Symposium on Tourette Syndrome, the articles in this special issue review advances in the phenomenology, epidemiology, genetics, pathophysiology, and treatment of TS. PMID:25436182

  7. Savant Syndrome: Clinical and Neuropsychological Features

    OpenAIRE

    Ibrahim Durukan; Tumer Turkbay

    2010-01-01

    Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types o...

  8. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  9. Rumination Syndrome and Dental Erosions in Children.

    Science.gov (United States)

    Monagas, Javier; Ritwik, Priyanshi; Kolomensky, Andrew; Acosta, Julio; Kay, Danielle; Clendaniel, Lindsey; Hyman, Paul E

    2017-06-01

    Rumination syndrome is the effortless regurgitation of recently ingested food with subsequent reswallowing or spitting out. Dental erosion (DE) affects 2% to 5% of the population. DE is defined as loss of tooth structure by a chemical process that does not involve bacteria. Our objective was to compare the frequency of DE among children with rumination syndrome with healthy controls. We enrolled 30 patients 4 to 21 years of age diagnosed with rumination syndrome, and 30 age- and sex-matched healthy control subjects. Patients were evaluated by pediatric dentists for presence of DE with Taji et al a validated grading system. Patients with rumination were more likely to have DE (P syndrome, 23 (77%) had DE, compared with 4 (13%) control subjects. DEs are more frequent in patients with rumination syndrome.

  10. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  11. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  12. Rett Syndrome

    Science.gov (United States)

    ... loss of interest in normal play Delayed speech development or loss of previously acquired speech abilities Problem behavior or marked mood swings Any clear loss of previously gained milestones in gross motor or fine motor skills Causes Rett syndrome is a rare genetic disorder. ...

  13. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  14. Piriformis Syndrome

    Science.gov (United States)

    ... can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. Clinical Trials Throughout the U.S. ... Definition Piriformis syndrome is a rare neuromuscular disorder that ...

  15. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

    A 24 years old female presented with hypertension, haemolysis, elevated liver enzymes and thrombocytopenia in an unconscious state after undergoing an emergency caesarian section. A diagnosis of HELLP syndrome was made on the above findings. Patient made an uneventful recovery with conservative management. A brief review of the literature is included along with the case report. (author)

  16. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  17. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  18. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  19. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  20. Kounis syndrome

    African Journals Online (AJOL)

    neoplastic agents), exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome com prises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital ...

  1. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  2. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  3. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  4. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  5. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  6. How to define responders in osteoarthritis

    NARCIS (Netherlands)

    Cooper, C.; Adachi, J.D.; Bardin, T; Berenbaum, F.; Flamion, B.; Jonsson, H.; Kanis, J.A.; Pelousse, F.; Lems, W.F.; Pelletier, J.P.; Martel-Pelletier, J.; Reiter, S.; Reginster, J.Y.; Rizzoli, R.; Bruyere, O.

    2013-01-01

    Background: Osteoarthritis is a clinical syndrome of failure of the joint accompanied by varying degrees of joint pain, functional limitation, and reduced quality of life due to deterioration of articular cartilage and involvement of other joint structures. Scope: Regulatory agencies require

  7. The sick-building syndrome; Das Sick-Building-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Henne, A.; Neumann, H.F.; Winneke, G.

    1992-12-31

    The sick-building syndrome is characterized by the presence of general, non-specific symptoms (e.g., headache, tiredness, respiratory problems, eye trouble, vertigo, nausea, unspecific hypersensitivity) in association with a particular indoor ambience. It is clearly distinguishable from `building-related illness`, referring to a well-defined clinical syndrome due to staying in a building and for which a cause can, in general, be established. Disorders in the case of the sick-building syndrome are manifold and confirmed objectifiable results are hardly available so far. Yet there are some organ-related methods for the confirmation of findings concerning, for instance, the eyes, the skin and the area of the nose. The causes of the incidence of sick-building syndrome are more or less unclear. It is a multifactorial phenomenon involving physical, biological, chemical, individual-specific and psychological factors. Buildings where sick-building syndrome occurs typically exhibit certain properties. The European Community has already made proposals for the investigation of incriminated buildings. A systematic survey by questionnaire together with individual interviews plays an import part towards clarifying the syndrome. (orig./UWA) [Deutsch] Das Sick-Building-Syndrom beschreibt das Vorhandensein von allgemeinen, nicht spezifischen Symptomen (z.B. Kopfschmerzen, Muedigkeit, Atembeschwerden, Augenreizungen, Schwindelgefuehl, Uebelkeit, unspezifische Ueberempfindlichkeit), assoziiert mit einer besonderen Innenraumumgebung. Deutlich hiervon abzugrenzen ist die ``Building related illness``, bei der ein klinisch definiertes Krankheitsbild vorliegt, das durch den Aufenthalt im Gebaeude verursacht wird und fuer das im allgemeinen eine Ursache ermittelt werden kann. Das Beschwerdebild beim Sick-Building-Syndrom ist vielfaeltig, und gesicherte, objektivierbare Befunde liegen hierzu bisher kaum vor. Dennoch gibt es einige organbezogenen Methoden zur Befundabsicherung, z.B. fuer das

  8. 22 CFR 92.36 - Authentication defined.

    Science.gov (United States)

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Authentication defined. 92.36 Section 92.36... Notarial Acts § 92.36 Authentication defined. An authentication is a certification of the genuineness of... recognized in another jurisdiction. Documents which may require authentication include legal instruments...

  9. A definability theorem for first order logic

    NARCIS (Netherlands)

    Butz, C.; Moerdijk, I.

    1997-01-01

    In this paper we will present a definability theorem for first order logic This theorem is very easy to state and its proof only uses elementary tools To explain the theorem let us first observe that if M is a model of a theory T in a language L then clearly any definable subset S M ie a subset S

  10. Dilution Confusion: Conventions for Defining a Dilution

    Science.gov (United States)

    Fishel, Laurence A.

    2010-01-01

    Two conventions for preparing dilutions are used in clinical laboratories. The first convention defines an "a:b" dilution as "a" volumes of solution A plus "b" volumes of solution B. The second convention defines an "a:b" dilution as "a" volumes of solution A diluted into a final volume of "b". Use of the incorrect dilution convention could affect…

  11. Defining Hardwood Veneer Log Quality Attributes

    Science.gov (United States)

    Jan Wiedenbeck; Michael Wiemann; Delton Alderman; John Baumgras; William Luppold

    2004-01-01

    This publication provides a broad spectrum of information on the hardwood veneer industry in North America. Veneer manufacturers and their customers impose guidelines in specifying wood quality attributes that are very discriminating but poorly defined (e.g., exceptional color, texture, and/or figure characteristics). To better understand and begin to define the most...

  12. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  13. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  14. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  15. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  16. Vocal cord paralysis associated with Ramsay Hunt syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Eva Rye; Mey, Kristianna

    2014-01-01

    Ramsay Hunt syndrome is defined by herpes zoster oticus and peripheral facial nerve palsy which is often associated with otalgia. The syndrome is, in rare cases, associated with other cranial nerve paralyses including the vagal nerve causing unilateral vocal cord paralysis. Vocal cord paralysis...

  17. Lutembacher's syndrome: A rare combination of congenital and ...

    African Journals Online (AJOL)

    Because the mitral stenosis was, in fact, rheumatic in aetiology, the syndrome was defined eventually as a combination of congenital atrial septal defect and acquired, almost always rheumatic, mitral stenosis. Keywords:Lutembacher's syndrome, congenital heart disease, valvular heart disease, atrial septal defect, mitral ...

  18. lutembacher's syndrome: a rare combination of congenital and ...

    African Journals Online (AJOL)

    FOBUR

    Lutembacher's syndrome is defined as the rare combination of congenital atrial septal defect and acquired ... atrial septal defect. The definition of Lutembacher's syndrome has undergone many changes. The earliest description in medical literature was found in a letter written ... atrial fibrillation with her chest x-ray showing.

  19. Age of First Arrhythmic Event in Brugada Syndrome

    DEFF Research Database (Denmark)

    Milman, Anat; Andorin, Antoine; Gourraud, Jean-Baptiste

    2017-01-01

    BACKGROUND: Data on the age at first arrhythmic event (AE) in Brugada syndrome are from limited patient cohorts. The aim of this study is 2-fold: (1) to define the age at first AE in a large cohort of patients with Brugada syndrome, and (2) to assess the influence of the mode of AE documentation,...

  20. Schizophrenia and Leigh syndrome, a simple comorbidity or the ...

    African Journals Online (AJOL)

    cytochrome c oxidase deficiency". Few psychiatric disorders have been defined that are associated with Leigh syndrome. The objective of this work is to study relations between mitochondrial dysfunction and psychiatric disorders. It was a 20 year ...

  1. Clinical Evaluation of a Proposed New Gulf War Syndrome

    National Research Council Canada - National Science Library

    Levine, Paul

    2001-01-01

    Thus far, studies on Gulf War veterans have not defined any syndrome specific to deployed Gulf War veterans, but have only suggested that Persian Gulf War veterans have a higher frequency of a number...

  2. The MEA syndrome - a contribution based on pictorial case records

    International Nuclear Information System (INIS)

    Brandstetter, K.; Luttke, G.; Golder, W.

    1991-01-01

    Multiple endocrine adenomatosis is defined as being a hereditary, pluriglandular syndrome associated with hyperplastic and neoplastic changes. The range of methods used included sonography, magnetic resonance tomography and angiography. (GDG) [de

  3. Paraneoplastiske syndromer

    OpenAIRE

    Røsbekk, Stein Helge

    2007-01-01

    During the last 50 years it has become clear that malignant tumours can induce symptoms unrelated to the mechanical effects of the primary tumour itself or its metastasis. Today, the name Paraneoplastic syndrome is given to those symptom complexes that may affect the blood cells, electrolytes, coagulation system, muscle, skin, nerve and the endocrine system. Endocrine symptoms were first recognised, and different hormones were isolated from the tumour tissue. However, tumour derived hormones ...

  4. Caroli's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Numan, F; Cokyueksel, O; Camuscu, S; Demir, K; Dueren, M

    1986-07-01

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen.

  5. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  6. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  7. Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes

    Directory of Open Access Journals (Sweden)

    Rita Gravino

    2014-07-01

    Full Text Available RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation. As a consequence, its dysregulation has profound developmental consequences, in particular cardiac malformations. RASopathies with cardiac features are: Noonan syndrome, multiple lentigines syndrome, cardio-faciocutaneous syndrome, Costello syndrome, neurofibromatosis- 1, Legius syndrome, neurofibromatosis- Noonan syndrome. The former syndromes are associated with a high rate of cardiac involvement (60-85% and 12 genes: PTPN11, SOS1, RAF1, KRAS, HRAS, BRAF, MEK1/MAP2K1, MEK2/MAP2K2, NRAS, SHOC2, CBL and SPRED1. Although the majority of these diseases are readily distinguishable in clinical terms, an integrated imaging study of the cardiac condition associated to RASopathies helps to better define risk assessment, surveillance, and management of these patients.

  8. [PHACES syndrome].

    Science.gov (United States)

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  9. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  10. Neonatal respiratory distress syndrome

    Science.gov (United States)

    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 ...

  11. Toxic shock syndrome

    Science.gov (United States)

    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- ...

  12. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  13. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  14. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  15. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  16. Hepatic infarction in HELLP syndrome; a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Mi Jeong; Kim, Hong [Keimyung Univ. School of Medicine, Taegu (Korea, Republic of)

    2000-11-01

    Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect.

  17. Hepatic infarction in HELLP syndrome; a case report

    International Nuclear Information System (INIS)

    Kim, Mi Jeong; Kim, Hong

    2000-01-01

    Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect

  18. Bilayer graphene quantum dot defined by topgates

    Energy Technology Data Exchange (ETDEWEB)

    Müller, André; Kaestner, Bernd; Hohls, Frank; Weimann, Thomas; Pierz, Klaus; Schumacher, Hans W., E-mail: hans.w.schumacher@ptb.de [Physikalisch-Technische Bundesanstalt, Bundesallee 100, 38116 Braunschweig (Germany)

    2014-06-21

    We investigate the application of nanoscale topgates on exfoliated bilayer graphene to define quantum dot devices. At temperatures below 500 mK, the conductance underneath the grounded gates is suppressed, which we attribute to nearest neighbour hopping and strain-induced piezoelectric fields. The gate-layout can thus be used to define resistive regions by tuning into the corresponding temperature range. We use this method to define a quantum dot structure in bilayer graphene showing Coulomb blockade oscillations consistent with the gate layout.

  19. Acute nephritic syndrome

    Science.gov (United States)

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

  20. Application-Defined Decentralized Access Control

    Science.gov (United States)

    Xu, Yuanzhong; Dunn, Alan M.; Hofmann, Owen S.; Lee, Michael Z.; Mehdi, Syed Akbar; Witchel, Emmett

    2014-01-01

    DCAC is a practical OS-level access control system that supports application-defined principals. It allows normal users to perform administrative operations within their privilege, enabling isolation and privilege separation for applications. It does not require centralized policy specification or management, giving applications freedom to manage their principals while the policies are still enforced by the OS. DCAC uses hierarchically-named attributes as a generic framework for user-defined policies such as groups defined by normal users. For both local and networked file systems, its execution time overhead is between 0%–9% on file system microbenchmarks, and under 1% on applications. This paper shows the design and implementation of DCAC, as well as several real-world use cases, including sandboxing applications, enforcing server applications’ security policies, supporting NFS, and authenticating user-defined sub-principals in SSH, all with minimal code changes. PMID:25426493

  1. Software Defined Multiband EVA Radio, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — The objective of this research is to propose a reliable, lightweight, programmable, multi-band, multi-mode, miniaturized frequency-agile EVA software defined radio...

  2. Reconfigurable, Cognitive Software Defined Radio, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — IAI is actively developing Software Defined Radio platforms that can adaptively switch between different modes of operation by modifying both transmit waveforms and...

  3. Software Defined Multiband EVA Radio, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — The objective of Phase 2 is to build a reliable, lightweight, programmable, multi-mode, miniaturized EVA Software Defined Radio (SDR) that supports data telemetry,...

  4. Reconfigurable, Cognitive Software Defined Radio, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — Intelligent Automation Inc, (IAI) is currently developing a software defined radio (SDR) platform that can adaptively switch between different modes of operation for...

  5. Morvan syndrome: a rare cause of syndrome of inappropriate antidiuretic hormone secretion

    OpenAIRE

    DEMIRBAS, SEREF; AYKAN, MUSA BARIS; ZENGIN, HAYDAR; MAZMAN, SEMIR; SAGLAM, KENAN

    2017-01-01

    The syndrome of inappropriate antidiuretic hormone secretion (SIADH) accounts for an important part of hyponatremia cases. The causes of SIADH can be detected almost always. As a rare disorder, Morvan Syndrome can be defined by the sum of peripheral nerve hyperexcitability, autonomic instability and neuropsychiatric features. Antibodies to voltage-gated potassium channels (Anti ? VGKC-Ab) including contactin associated protein-like 2 antibodies (CASPR2-Ab) and leucine-rich glioma inactivated ...

  6. Optimum Criteria for Developing Defined Structures

    Directory of Open Access Journals (Sweden)

    Ion IVAN

    2008-01-01

    Full Text Available Basic aspects concerning distributed applications are presented: definition, particularities and importance. For distributed applications linear, arborescent, graph structures are defined with different versions and aggregation methods. Distributed applications have associated structures which through their characteristics influence the costs of the stages in the development cycle and the exploitation costs transferred to each user. The complexity of the defined structures is analyzed. The minimum and maximum criteria are enumerated for optimizing distributed application structures.

  7. Relationships among personality traits, metabolic syndrome, and metabolic syndrome scores: The Kakegawa cohort study.

    Science.gov (United States)

    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.

  8. Rituximab for nephrotic syndrome in children.

    Science.gov (United States)

    Iijima, Kazumoto; Sako, Mayumi; Nozu, Kandai

    2017-04-01

    Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. At least 20 % of children with this syndrome show frequent relapses and/or steroid dependence during or after immunosuppressive therapies, a condition defined as complicated frequently relapsing/steroid-dependent nephrotic syndrome (FRNS/SDNS). Approximately 1-3 % of children with idiopathic nephrotic syndrome are resistant to steroids and all immunosuppressive agents, a condition defined as refractory steroid-resistant nephrotic syndrome (SRNS); these SRNS children have a high risk of end-stage renal failure. Rituximab, a chimeric anti-CD20 monoclonal antibody, has been shown to be effective for patients with complicated FRNS/SDNS and refractory SRNS. This review describes the recent results of rituximab treatment applied to pediatric nephrotic syndrome, as well as those of our recent study, a multicenter, double-blind, randomized, placebo-controlled trial of rituximab for childhood-onset complicated FRNS/SDNS (RCRNS01). The overall efficacy and safety of rituximab for this disease are discussed.

  9. Deficient motion-defined and texture-defined figure-ground segregation in amblyopic children.

    Science.gov (United States)

    Wang, Jane; Ho, Cindy S; Giaschi, Deborah E

    2007-01-01

    Motion-defined form deficits in the fellow eye and the amblyopic eye of children with amblyopia implicate possible direction-selective motion processing or static figure-ground segregation deficits. Deficient motion-defined form perception in the fellow eye of amblyopic children may not be fully accounted for by a general motion processing deficit. This study investigates the contribution of figure-ground segregation deficits to the motion-defined form perception deficits in amblyopia. Performances of 6 amblyopic children (5 anisometropic, 1 anisostrabismic) and 32 control children with normal vision were assessed on motion-defined form, texture-defined form, and global motion tasks. Performance on motion-defined and texture-defined form tasks was significantly worse in amblyopic children than in control children. Performance on global motion tasks was not significantly different between the 2 groups. Faulty figure-ground segregation mechanisms are likely responsible for the observed motion-defined form perception deficits in amblyopia.

  10. HEPATORENAL SYNDROME: A REVIEW

    Directory of Open Access Journals (Sweden)

    Diana DIACONESCU

    2018-06-01

    Full Text Available Hepatorenal syndrome (HRS is defined as a functional renal failure in patients with liver disease that features morphologically intact kidneys, where regulatory mechanisms have minimized glomerular filtration and maximized tubular resorption and urine concentration. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterized by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The first line treatment includes terlipressin plus albumin. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Other therapies include transjugular intrahepatic portosystemic shunts (TIPS, dialysis and peritoneovenous shunts which are most commonly done when patients are awaiting a liver transplant or when there is the possibility of improvement in liver function.

  11. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  12. [Obstructive sleep apnea syndrome in the setting of Gorlin-Goltz syndrome].

    Science.gov (United States)

    Grundig, H; Sinikovic, B; Günther, J; Jungehülsing, M

    2013-09-01

    Goltz-Gorlin syndrome is a rare autosomal dominant hereditary disease associated with a high rate of spontaneous mutation. Diagnosis is based on clinically defined major and minor criteria. The disease is caused by a gene mutation locating to chromosome 9q22-31. We report on a young Goltz-Gorlin syndrome patient with obstructive sleep apnea syndrome. Due to intolerance to continuous positive airway pressure (CPAP) therapy and in order to avoid a tracheotomy, we opted for an alternative therapy comprising interdisciplinary multi-level surgery.

  13. Morvan syndrome: a rare cause of syndrome of inappropriate antidiuretic hormone secretion.

    Science.gov (United States)

    Demirbas, Seref; Aykan, Musa Baris; Zengin, Haydar; Mazman, Semir; Saglam, Kenan

    2017-01-01

    The syndrome of inappropriate antidiuretic hormone secretion (SIADH) accounts for an important part of hyponatremia cases. The causes of SIADH can be detected almost always. As a rare disorder, Morvan Syndrome can be defined by the sum of peripheral nerve hyperexcitability, autonomic instability and neuropsychiatric features. Antibodies to voltage-gated potassium channels (Anti - VGKC-Ab) including contactin associated protein-like 2 antibodies (CASPR2-Ab) and leucine-rich glioma inactivated protein 1 antibodies (LGI1-Ab) were previously known for the potential association with this condition. We present a Morvan Syndrome in a patient who presented with various neuropsychiatric symptoms and SIADH.

  14. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  15. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

    Full Text Available Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

  16. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  17. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  18. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  19. Infectious Causes of Right Middle Lobe Syndrome.

    Science.gov (United States)

    Rashid, Aatif; Nanjappa, Sowmya; Greene, John N

    2017-01-01

    Right middle lobe (RML) syndrome is defined as recurrent or chronic obstruction or infection of the middle lobe of the right lung. Nonobstructive causes of middle lobe syndrome include inflammatory processes and defects in the bronchial anatomy and collateral ventilation. We report on 2 case patients with RML syndrome, one due to infection with Mycobacterium avium complex followed by M asiaticum infection and the other due to allergic bronchopulmonary aspergillosis. A history of atopy, asthma, or chronic obstructive pulmonary disease has been reported in up to one-half of those with RML. The diagnosis can be made by plain radiography, computed tomography, and bronchoscopy. Medical treatment consists of bronchodilators, mucolytics, and antimicrobials. Patients whose disease is unresponsive to treatment and those with obstructive RML syndrome can be offered surgical treatment.

  20. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  1. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  2. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  3. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  4. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract 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 (

  5. Inherited Bone Marrow Failure Syndromes (IBMFS)

    Science.gov (United States)

    The NCI IBMFS Cohort Study consists of affected individuals and their immediate families in North America who have an inherited bone marrow failure syndrome (IBMFS)-either one that has been specifically identified and defined, or bone marrow failure that appears to be inherited but has not yet been clearly identified as having a genetic basis.

  6. Endogenous thrombin potential in polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Aziz, Mubeena; Sidelmann, Johannes Jakobsen; Wissing, Marie Louise Muff

    2015-01-01

    OBJECTIVES: The objective of this study is to investigate plasma endogenous thrombin generation in four different phenotypes of polycystic ovary syndrome (PCOS) defined by Body Mass Index (BMI) and insulin resistance (IR). PCOS is diagnosed according to the Rotterdam criteria. DESIGN: Multicenter...

  7. Tourette Syndrome: A Review and Educational Implications.

    Science.gov (United States)

    Bauer, Anne M.; Shea, Thomas M.

    1984-01-01

    Tourette Syndrome, a condition characterized by involuntary muscular and verbal tics, is defined, its course described, incidence noted (possibly 1.6 percent of the population), etiology considered (from viewpoints of psychogenic and organic theories), treatment (primarily pharmaceutical therapy) discussed, and educational approaches examined.…

  8. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  9. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... 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 ...

  10. [EPIDEMIOLOGY OF OVER-ACTIVE BLADDER (OAB) SYNDROME].

    Science.gov (United States)

    Eshkoli, Tamar; Yohai, David; Laron, Elad; Weintraub, Adi Y

    2016-11-01

    An over-active bladder is a common disorder which influences women's health and quality of life. There is difficulty defining the exact prevalence of the disorder since there are various definitions in the literature. The ICS definition from 2002 on the over-active bladder (OAB) syndrome enables more uniformity, by declaring that OAB syndrome is a symptomatic syndrome defined as presence of urgency with or without urinary incontinence, mostly accompanied by frequency and nocturia. In this article we reviewed the current medical literature on the prevalence of the OAB syndrome by focusing on relevant crosssectional and longitudinal studies, the trend changes during life, co-morbidities, the influence of quality of life and the economic burden following the disorder and its treatment. The authors' hope is that elevating awareness of the OAB syndrome will help improve its diagnosis and treatment.

  11. Quantitative renal scintigraphy: anatomo-clinical and biological correlation (concerning 51 mercury 197 renal scintigraphs)

    International Nuclear Information System (INIS)

    Pinganaud, J.-M.

    1976-01-01

    To find out whether the renal mercury uptake measurement in urology is a satisfactory way to judge the separate functional value of the kidneys the records of 51 patients were examined. The exploration took place as follows: - injection of 300 μCi 197 HgCl 2 , - measurement of the radioactivity fixed on each kidney, three days later, by means of a gamma camera. Of these 51 uptake measurements only one result appears inconsistent by excess. All the others agree perfectly with comparative observations. On the whole a close correlation is found between the renal mercury uptake measurement and the various clinical, urographic and anatomical data obtained on this group of patients. The method seems to be ideal because reliable, harmless and repeatable. Where dosimetry is concerned an injected dose of 300μCi delivers 9mrad to each kidney, 6mrad to the ovaries. By way of comparison it is interesting to note that an intraveinous urograph with 5 exposures delivers 500mrad to the ovaries. It is considered safe to repeat the examination 3 to 4 times on one patient [fr

  12. Metabolic syndrome and cardiovascular risk among adults

    Directory of Open Access Journals (Sweden)

    Reem Hunain

    2018-03-01

    Full Text Available Background: Mortality and morbidity due cardiovascular diseases in India is on the rise. Metabolic Syndrome which is a collection of risk factors of metabolic origin, can greatly contribute to its rising burden. Aims & Objectives: The present study was conducted with the objective of estimating the prevalence of metabolic syndrome and 10-year cardiovascular risk among adults. Material & Methods: This hospital-based study included 260 adults aged 20-60 years. Metabolic Syndrome was defined using National Cholesterol Education Program –Adult Treatment Panel -3 criteria. The 10 year cardiovascular risk was estimated using Framingham risk scoring. Results: The overall prevalence of metabolic syndrome among the study participants was 38.8%. Age (41-60yrs, male gender and daily consumption of high salt items were positively associated with metabolic syndrome whereas consumption of occasional high sugar items showed an inverse association with metabolic syndrome. According to Framingham Risk Scoring, 14.3% of the participants belonged to intermediate/high risk category. Conclusion: With a high prevalence of metabolic syndrome and a considerable proportion of individuals with intermediate to high 10 yr CVD risk, there is a need to design strategies to prevent future cardiovascular events.

  13. Early repolarisation and J wave syndromes

    Directory of Open Access Journals (Sweden)

    Kamal K. Sethi

    2014-07-01

    Full Text Available J wave syndrome has emerged as a significant cause of Idiopathic ventricular fibrillation (IVF responsible for sudden cardiac death. A large body of data is now available on genesis, genetics and ionic mechanisms of J wave syndromes. Two of these viz., Early repolarization syndrome (ER and Brugada syndrome (BrS are fairly well characterized enabling correct diagnosis in most patients. The first part of repolarization of ventricular myocardium is governed by Ito current i.e., rapid outward potassium current. The proposed mechanism of ventricular fibrillation (VF and ventricular tachycardia (VT storms is the faster Ito current in the epicardium than in the endocardium results in electrical gradient that forms the substrate for phase 2 reentry. Prevention of Ito current with quinidine supports this mechanism. Majority of ER patterns in young patients are benign. The key issue is to identify those at increased risk of sudden cardiac death. Association of both ER syndrome and Brugada syndrome with other disease states like coronary artery disease has also been reported. Individuals resuscitated from VF definitely need an implantable cardiac defibrillator (ICD but in others there is no consensus regarding therapy. Role of electrophysiology study to provoke ventricular tachycardia or fibrillation is not yet well defined. Radiofrequency ablation of epicardial substrate in right ventricle in Brugada syndrome is also under critical evaluation. In this review we shall discuss historical features, epidemiology, electrocardiographic features, ionic pathogenesis, clinical features and current status of proposed treatment of ER and BrS.

  14. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    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.

  15. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  16. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  17. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

  18. Hanford defined waste model limitations and improvements

    International Nuclear Information System (INIS)

    HARMSEN, R.W.

    1999-01-01

    Recommendation 93-5 Implementation Plan, Milestone 5,6.3.1.i requires issuance of this report which addresses ''updates to the tank contents model''. This report summarizes the review of the Hanford Defined Waste, Revision 4, model limitations and provides conclusions and recommendations for potential updates to the model

  19. Parallel Education and Defining the Fourth Sector.

    Science.gov (United States)

    Chessell, Diana

    1996-01-01

    Parallel to the primary, secondary, postsecondary, and adult/community education sectors is education not associated with formal programs--learning in arts and cultural sites. The emergence of cultural and educational tourism is an opportunity for adult/community education to define itself by extending lifelong learning opportunities into parallel…

  20. Bruxism defined and graded: an international consensus

    NARCIS (Netherlands)

    Lobbezoo, F.; Ahlberg, J.; Glaros, A.G.; Kato, T.; Koyano, K.; Lavigne, G.J.; de Leeuw, R.; Manfredini, D.; Svensson, P.; Winocur, E.

    2013-01-01

    To date, there is no consensus about the definition and diagnostic grading of bruxism. A written consensus discussion was held among an international group of bruxism experts as to formulate a definition of bruxism and to suggest a grading system for its operationalisation. The expert group defined

  1. 7 CFR 28.950 - Terms defined.

    Science.gov (United States)

    2010-01-01

    ... Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing..., TESTING, AND STANDARDS Cotton Fiber and Processing Tests Definitions § 28.950 Terms defined. As used... Agricultural Marketing Service of the U.S. Department of Agriculture. (c) Administrator. The Administrator of...

  2. 47 CFR 54.401 - Lifeline defined.

    Science.gov (United States)

    2010-10-01

    ... SERVICE Universal Service Support for Low-Income Consumers § 54.401 Lifeline defined. (a) As used in this subpart, Lifeline means a retail local service offering: (1) That is available only to qualifying low-income consumers; (2) For which qualifying low-income consumers pay reduced charges as a result of...

  3. How Should Energy Be Defined throughout Schooling?

    Science.gov (United States)

    Bächtold, Manuel

    2018-01-01

    The question of how to teach energy has been renewed by recent studies focusing on the learning and teaching progressions for this concept. In this context, one question has been, for the most part, overlooked: how should energy be defined throughout schooling? This paper addresses this question in three steps. We first identify and discuss two…

  4. Big data and software defined networks

    CERN Document Server

    Taheri, Javid

    2018-01-01

    Big Data Analytics and Software Defined Networking (SDN) are helping to drive the management of data usage of the extraordinary increase of computer processing power provided by Cloud Data Centres (CDCs). This new book investigates areas where Big-Data and SDN can help each other in delivering more efficient services.

  5. Delta Semantics Defined By Petri Nets

    DEFF Research Database (Denmark)

    Jensen, Kurt; Kyng, Morten; Madsen, Ole Lehrmann

    and the possibility of using predicates to specify state changes. In this paper a formal semantics for Delta is defined and analysed using Petri nets. Petri nets was chosen because the ideas behind Petri nets and Delta concide on several points. A number of proposals for changes in Delta, which resulted from...

  6. Towards a Southern African English Defining Vocabulary

    African Journals Online (AJOL)

    user

    of parameters, such as avoiding synonyms and antonyms, to determine which words are necessary to write definitions in a concise and simple way. It has been found that existing defining vocabularies lack certain words that would make definitions more accessible to southern African learners, and therefore there is a need ...

  7. Spaces defined by the Paley function

    Energy Technology Data Exchange (ETDEWEB)

    Astashkin, S V [Samara State University, Samara (Russian Federation); Semenov, E M [Voronezh State University, Faculty of Mathematics, Voronezh (Russian Federation)

    2013-07-31

    The paper is concerned with Haar and Rademacher series in symmetric spaces, and also with the properties of spaces defined by the Paley function. In particular, the symmetric hull of the space of functions with uniformly bounded Paley function is found. Bibliography: 27 titles.

  8. Pointwise extensions of GSOS-defined operations

    NARCIS (Netherlands)

    Hansen, H.H.; Klin, B.

    2011-01-01

    Final coalgebras capture system behaviours such as streams, infinite trees and processes. Algebraic operations on a final coalgebra can be defined by distributive laws (of a syntax functor S over a behaviour functor F). Such distributive laws correspond to abstract specification formats. One such

  9. Pointwise Extensions of GSOS-Defined Operations

    NARCIS (Netherlands)

    H.H. Hansen (Helle); B. Klin

    2011-01-01

    textabstractFinal coalgebras capture system behaviours such as streams, infinite trees and processes. Algebraic operations on a final coalgebra can be defined by distributive laws (of a syntax functor $\\FSig$ over a behaviour functor $F$). Such distributive laws correspond to abstract specification

  10. Defining Virtual Reality: Dimensions Determining Telepresence.

    Science.gov (United States)

    Steuer, Jonathan

    1992-01-01

    Defines virtual reality as a particular type of experience (in terms of "presence" and "telepresence") rather than as a collection of hardware. Maintains that media technologies can be classified and studied in terms of vividness and interactivity, two attributes on which virtual reality ranks very high. (SR)

  11. A self-defining hierarchical data system

    Science.gov (United States)

    Bailey, J.

    1992-01-01

    The Self-Defining Data System (SDS) is a system which allows the creation of self-defining hierarchical data structures in a form which allows the data to be moved between different machine architectures. Because the structures are self-defining they can be used for communication between independent modules in a distributed system. Unlike disk-based hierarchical data systems such as Starlink's HDS, SDS works entirely in memory and is very fast. Data structures are created and manipulated as internal dynamic structures in memory managed by SDS itself. A structure may then be exported into a caller supplied memory buffer in a defined external format. This structure can be written as a file or sent as a message to another machine. It remains static in structure until it is reimported into SDS. SDS is written in portable C and has been run on a number of different machine architectures. Structures are portable between machines with SDS looking after conversion of byte order, floating point format, and alignment. A Fortran callable version is also available for some machines.

  12. [Semiotics of the Currarino syndrome].

    Science.gov (United States)

    Pankevych, T L; Lóniushkin, O I; Sitkovskyĭ, M B; Kaplan, V M; Iurchenko, M I; Cherniienko, Iu L

    1993-01-01

    The main criteria for diagnosis of the Currarino syndrome have been defined. Roentgenologic investigation of the lumbar-sacral spine in direct projection is indicated to all the patients with anorectal developmental defects, in particular with congenital anorectal stenosis. In detection of a specific defect of the terminal vertebrae, the performance of computed tomography of the pelvic bottom and nuclear magnetic resonance tomography of the lumbar-sacral spine is necessary. This permits to assess the nature of a presacral tumour and degree of dysplasia of the external and sphincter. Timely diagnosis of the Currarino syndrome in children with the anorectal developmental defects permits to avoid severe septic and functional complications in surgical intervention.

  13. [Antisynthetase syndrome - a case report].

    Science.gov (United States)

    Prus, Visnja; Bedeković, Drazen; Milas-Ahić, Jasminka; Visević, Roberta; Segec, Branko; Jukić, Zlatica; Perić, Ljiljana

    2013-01-01

    Twenty-eight year-old woman with predominant signs of polymyositis, pulmonary interstitium involvement and with positive anti-Jo1 antibodies was suspected for antisynthetase syndrome. Over the next three months sores and ulcerations have appeared at the fingertips. In the later course of the disease clinical picture of mixed connective tissue disease associated with interstitial lung disease, with a dominant picture of systemic sclerosis have emerged. She was treated with glucocorticoides and immunosuppressive therapy. Patient condition was mostly stable, without significant progression of lung lesions. Early diagnosis and treatment antisynthetase syndrome significantly contributes to more favorable course and outcome of disease. A prerequisite for that are well-defined diagnostic criteria and an appropriate choice of treatment.

  14. Gorlin's syndrome.

    Science.gov (United States)

    Ramsden, R T; Barrett, A

    1975-06-01

    The uncommon familial syndrome of multiple odontogenic keratocysts, basal cell naevi and skeletal anomalies is reviewed, and seven cases are described, including one patient who developed squamous cell carcinoma in a previous odontogenic keratocyst of the maxilla. We wish to thank Consultants from the Royal National Throat, Nose and Ear Hospital, The Middlesex Hospital and the Eastman Dental Hospital, who allowed us access to their patients; Mr. D. Garfield Davies, Dr. M. F. Spittle, Mr. D. Winstock, Mr. H. P. Cook, Professor H. C. Killey and Mr. L. W. Kay. We are grateful to Professor L. Michaels and Mr. D. J. Connolly for preparation of the illustrations and to Mrs. A. Matthews for the typescript.

  15. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  16. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  17. A new diagnostic approach to popliteal artery entrapment syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Williams, Charles; Kennedy, Dominic; Bastian-Jordan, Matthew; Hislop, Matthew; Cramp, Brendan; Dhupelia, Sanjay [Queensland X-Ray, Sunnybank, Queensland, 4109 (Australia)

    2015-09-15

    A new method of diagnosing and defining functional popliteal artery entrapment syndrome is described. By combining ultrasonography and magnetic resonance imaging techniques with dynamic plantarflexion of the ankle against resistance, functional entrapment can be demonstrated and the location of the arterial occlusion identified. This combination of imaging modalities will also define muscular anatomy for guiding intervention such as surgery or Botox injection.

  18. A new diagnostic approach to popliteal artery entrapment syndrome

    International Nuclear Information System (INIS)

    Williams, Charles; Kennedy, Dominic; Bastian-Jordan, Matthew; Hislop, Matthew; Cramp, Brendan; Dhupelia, Sanjay

    2015-01-01

    A new method of diagnosing and defining functional popliteal artery entrapment syndrome is described. By combining ultrasonography and magnetic resonance imaging techniques with dynamic plantarflexion of the ankle against resistance, functional entrapment can be demonstrated and the location of the arterial occlusion identified. This combination of imaging modalities will also define muscular anatomy for guiding intervention such as surgery or Botox injection

  19. [Etiologic spectrum of solitary constitutional syndrome].

    Science.gov (United States)

    Hernández Hernández, J L; Matorras Galán, P; Riancho Moral, J A; González-Macías, J

    2002-07-01

    To know the spectrum of diseases responsible for the solitary constitutional syndrome in our setting. This syndrome was defined as a clinical picture characterized by the presence of asthenia, anorexia, and weight loss of at least 5% of body weight in the last six months, not associated with any other symptom or sign suggesting the diagnosis of an organ or system disease. All patients diagnosed of the solitary constitutional syndrome (328) in a tertiary-care level teaching hospital between January 1991 and December 1996. Fifty-two (170) percent of patients with solitary constitutional syndrome were males and 48% (158) females. The mean age was 65.4%, ranging from 15 to 97 years. The average of the monthly estimated weight loss was 3 to 4 kilograms. A total of 115 (35%) malignant neoplasms and 5 (1.5%) benign tumors were diagnosed. The most common malignant tumors corresponded to the digestive tract (51.3% of the total malignant tumors). The second cause in frequency of the solitary constitutional syndrome corresponded to psychiatric diseases, with a total of 80 patients (24.3%). A total of 116 non-neoplastic organic diseases were detected, with digestive tract diseases --mainly peptic disease-- being the most common cause in this group. After follow-up, only in twenty cases were we unable to detect the underlying disease responsible for the syndrome. In nine of these, the solitary constitutional syndrome was self-limited. Forty-four percent of patients had at least another concomitant disease and in 24% of patients more than one associated condition was found. The most common diseases responsible for the solitary constitutional syndrome were, by decreasing frequency, malignant tumors, psychiatric disorders, and non-malignant organic diseases located in the digestive tract. A better knowledge of the etiological spectrum of this syndrome might be useful for a more efficient management of these patients.

  20. Metabolic syndrome: definitions and controversies

    Directory of Open Access Journals (Sweden)

    Kaltsas Gregory

    2011-05-01

    Full Text Available Abstract Metabolic syndrome (MetS is a complex disorder defined by a cluster of interconnected factors that increase the risk of cardiovascular atherosclerotic diseases and diabetes mellitus type 2. Currently, several different definitions of MetS exist, causing substantial confusion as to whether they identify the same individuals or represent a surrogate of risk factors. Recently, a number of other factors besides those traditionally used to define MetS that are also linked to the syndrome have been identified. In this review, we critically consider existing definitions and evolving information, and conclude that there is still a need to develop uniform criteria to define MetS, so as to enable comparisons between different studies and to better identify patients at risk. As the application of the MetS model has not been fully validated in children and adolescents as yet, and because of its alarmingly increasing prevalence in this population, we suggest that diagnosis, prevention and treatment in this age group should better focus on established risk factors rather than the diagnosis of MetS.

  1. Cardiorenal metabolic syndrome in the African diaspora: rationale for including chronic kidney disease in the metabolic syndrome definition.

    Science.gov (United States)

    Lea, Janice P; Greene, Eddie L; Nicholas, Susanne B; Agodoa, Lawrence; Norris, Keith C

    2009-01-01

    Chronic kidney disease (CKD) is more likely to progress to end-stage renal disease (ESRD) in African Americans while the reasons for this are unclear. The metabolic syndrome is a risk factor for the development of diabetes, cardiovascular disease, and has been recently linked to incident CKD. Historically, fewer African Americans meet criteria for the definition of metabolic syndrome, despite having higher rates of cardiovascular mortality than Caucasians. The presence of microalbuminuria portends increased cardiovascular risks and has been shown to cluster with the metabolic syndrome. We recently reported that proteinuria is a predictor of CKD progression in African American hypertensives with metabolic syndrome. In this review we explore the potential value of including CKD markers--microalbuminuria/proteinuria or low glomerular filtration rate (GFR)-in refining the cluster of factors defined as metabolic syndrome, ie, "cardiorenal metabolic syndrome."

  2. Defining Tiger Parenting in Chinese Americans.

    Science.gov (United States)

    Kim, Su Yeong

    2013-09-01

    "Tiger" parenting, as described by Amy Chua [2011], has instigated scholarly discourse on this phenomenon and its possible effects on families. Our eight-year longitudinal study, published in the Asian American Journal of Psychology [Kim, Wang, Orozco-Lapray, Shen, & Murtuza, 2013b], demonstrates that tiger parenting is not a common parenting profile in a sample of 444 Chinese American families. Tiger parenting also does not relate to superior academic performance in children. In fact, the best developmental outcomes were found among children of supportive parents. We examine the complexities around defining tiger parenting by reviewing classical literature on parenting styles and scholarship on Asian American parenting, along with Amy Chua's own description of her parenting method, to develop, define, and categorize variability in parenting in a sample of Chinese American families. We also provide evidence that supportive parenting is important for the optimal development of Chinese American adolescents.

  3. Defining enthesitis in spondyloarthritis by ultrasound

    DEFF Research Database (Denmark)

    Terslev, Lene; Naredo, E; Iagnocco, A

    2014-01-01

    Objective: To standardize ultrasound (US) in enthesitis. Methods: An Initial Delphi exercise was undertaken to define US detected enthesitis and its core components. These definitions were subsequently tested on static images taken from Spondyloarthritis (SpA) patients in order to evaluate...... elementary component. On static images the intra-observer reliability showed a high degree of variability for the detection of elementary lesions with kappa coefficients ranging from 0.14 - 1. The inter-observer kappa value was variable with the lowest kappa for enthesophytes (0.24) and the best for Doppler...... activity at the enthesis (0.63). Conclusion: This is the first consensus based definition of US enthesitis and its elementary components and the first step performed to ensure a higher degree of homogeneity and comparability of results between studies and in daily clinical work. Defining Enthesitis...

  4. Control of System with Defined Risk Level

    Directory of Open Access Journals (Sweden)

    Pavol Tomasov

    2002-01-01

    Full Text Available In the following paper the basic requirements for system control with defined risk level is presented. The paper should be an introduction to describe of theoretical apparatus, which was created during some years of research work in the Department of information and safety systems in this area. It a modification or creation of new parts of Information theory, System theory, and Control theory means. This parts are necessary for the analysis and synthesis tasks in the systems where dominant attribute of control is defined risk level. The basic problem is the creation of protect mechanism again the threats from inside and from controlled system environs. For each risk reduction mechanism is needed some redundancy which should be into control algorithm to put by exactly determined way.

  5. FINANCIAL ACCOUNTING QUALITY AND ITS DEFINING CHARACTERISTICS

    Directory of Open Access Journals (Sweden)

    Andra M. ACHIM

    2014-11-01

    Full Text Available The importance ofhigh-quality financial statements is highlighted by the main standard-setting institutions activating in the field of accounting and reporting. These have issued Conceptual Frameworks which state and describe the qualitative characteristics of accounting information. In this qualitative study, the research methodology consists of reviewing the literature related to the definition of accounting quality and striving for understanding how it can be explained. The main objective of the study is to identify the characteristics information should possess in order to be of high quality. These characteristics also contribute to the way of defining financial accounting quality. The main conclusions that arise from this research are represented by the facts that indeed financial accounting quality cannot be uniquely defined and that financial information is of good quality when it enhances the characteristics incorporated in the conceptual frameworks issued by both International Accounting Standards Board and Financial Accounting Standards Board.

  6. Exploring self-defining memories in schizophrenia.

    Science.gov (United States)

    Raffard, Stéphane; D'Argembeau, Arnaud; Lardi, Claudia; Bayard, Sophie; Boulenger, Jean-Philippe; Van Der Linden, Martial

    2009-01-01

    Previous studies have shown that patients with schizophrenia are impaired in recalling specific events from their personal past. However, the relationship between autobiographical memory impairments and disturbance of the sense of identity in schizophrenia has not been investigated in detail. In this study the authors investigated schizophrenic patients' ability to recall self-defining memories; that is, memories that play an important role in building and maintaining the self-concept. Results showed that patients recalled as many specific self-defining memories as healthy participants. However, patients with schizophrenia exhibited an abnormal reminiscence bump and reported different types of thematic content (i.e., they recalled less memories about past achievements and more memories regarding hospitalisation and stigmatisation of illness). Furthermore, the findings suggest that impairments in extracting meaning from personal memories could represent a core disturbance of autobiographical memory in patients with schizophrenia.

  7. Improving network management with Software Defined Networking

    International Nuclear Information System (INIS)

    Dzhunev, Pavel

    2013-01-01

    Software-defined networking (SDN) is developed as an alternative to closed networks in centers for data processing by providing a means to separate the control layer data layer switches, and routers. SDN introduces new possibilities for network management and configuration methods. In this article, we identify problems with the current state-of-the-art network configuration and management mechanisms and introduce mechanisms to improve various aspects of network management

  8. Stateless multicast switching in software defined networks

    OpenAIRE

    Reed, Martin J.; Al-Naday, Mays; Thomos, Nikolaos; Trossen, Dirk; Petropoulos, George; Spirou, Spiros

    2016-01-01

    Multicast data delivery can significantly reduce traffic in operators' networks, but has been limited in deployment due to concerns such as the scalability of state management. This paper shows how multicast can be implemented in contemporary software defined networking (SDN) switches, with less state than existing unicast switching strategies, by utilising a Bloom Filter (BF) based switching technique. Furthermore, the proposed mechanism uses only proactive rule insertion, and thus, is not l...

  9. Defining and Distinguishing Traditional and Religious Terrorism

    OpenAIRE

    Gregg, Heather S.

    2014-01-01

    The article of record may be found at: http://dx.doi.org/10.1080/23296151.2016.1239978 thus offering few if any policy options for counterterrorism measures. This assumption about religious terrorism stems from two challenges in the literature: disproportionate attention to apocalyptic terrorism, and a lack of distinction between religious terrorism and its secular counterpart. This article, therefore, aims to do four things: define and differentiate religiously motivated terrorism from tr...

  10. Defining Trust Using Expected Utility Theory

    OpenAIRE

    Arai, Kazuhiro

    2009-01-01

    Trust has been discussed in many social sciences including economics, psychology, and sociology. However, there is no widely accepted definition of trust. Inparticular, there is no definition that can be used for economic analysis. This paper regards trust as expectation and defines it using expected utility theory together with concepts such as betrayal premium. In doing so, it rejects the widely accepted black-and-white view that (un) trustworthy people are always (un)trustworthy. This pape...

  11. On Undefined and Meaningless in Lambda Definability

    OpenAIRE

    de Vries, Fer-Jan

    2016-01-01

    We distinguish between undefined terms as used in lambda definability of partial recursive functions and meaningless terms as used in infinite lambda calculus for the infinitary terms models that generalise the Bohm model. While there are uncountable many known sets of meaningless terms, there are four known sets of undefined terms. Two of these four are sets of meaningless terms. In this paper we first present set of sufficient conditions for a set of lambda terms to se...

  12. How Should Energy Be Defined Throughout Schooling?

    Science.gov (United States)

    Bächtold, Manuel

    2017-02-01

    The question of how to teach energy has been renewed by recent studies focusing on the learning and teaching progressions for this concept. In this context, one question has been, for the most part, overlooked: how should energy be defined throughout schooling? This paper addresses this question in three steps. We first identify and discuss two main approaches in physics concerning the definition of energy, one claiming there is no satisfactory definition and taking conservation as a fundamental property, and the other based on Rankine's definition of energy as the capacity of a system to produce changes. We then present a study concerning how energy is actually defined throughout schooling in the case of France by analyzing national programs, physics textbooks, and the answers of teachers to a questionnaire. This study brings to light a consistency problem in the way energy is defined across school years: in primary school, an adapted version of Rankine's definition is introduced and conservation is ignored; in high school, conservation is introduced and Rankine's definition is ignored. Finally, we address this consistency problem by discussing possible teaching progressions. We argue in favor of the use of Rankine's definition throughout schooling: at primary school, it is a possible substitute to students' erroneous conceptions; at secondary school, it might help students become aware of the unifying role of energy and thereby overcome the compartmentalization problem.

  13. Defining functional distances over Gene Ontology

    Directory of Open Access Journals (Sweden)

    del Pozo Angela

    2008-01-01

    Full Text Available Abstract Background A fundamental problem when trying to define the functional relationships between proteins is the difficulty in quantifying functional similarities, even when well-structured ontologies exist regarding the activity of proteins (i.e. 'gene ontology' -GO-. However, functional metrics can overcome the problems in the comparing and evaluating functional assignments and predictions. As a reference of proximity, previous approaches to compare GO terms considered linkage in terms of ontology weighted by a probability distribution that balances the non-uniform 'richness' of different parts of the Direct Acyclic Graph. Here, we have followed a different approach to quantify functional similarities between GO terms. Results We propose a new method to derive 'functional distances' between GO terms that is based on the simultaneous occurrence of terms in the same set of Interpro entries, instead of relying on the structure of the GO. The coincidence of GO terms reveals natural biological links between the GO functions and defines a distance model Df which fulfils the properties of a Metric Space. The distances obtained in this way can be represented as a hierarchical 'Functional Tree'. Conclusion The method proposed provides a new definition of distance that enables the similarity between GO terms to be quantified. Additionally, the 'Functional Tree' defines groups with biological meaning enhancing its utility for protein function comparison and prediction. Finally, this approach could be for function-based protein searches in databases, and for analysing the gene clusters produced by DNA array experiments.

  14. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  15. Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?

    Science.gov (United States)

    Song, Taejong; Kim, Min Kyu; Lee, Yoo-Young; Choi, Chel Hun; Kim, Tae-Joong; Lee, Jeong-Won; Bae, Duk-Soo; Kim, Byoung-Gie

    2016-04-01

    The aim of this study was to determine the clinical characteristics of women with double primary cancers of the colorectum and endometrium and assess the probability of Lynch syndrome. We identified 15 women with paraffin-embedded blocks available who were diagnosed, treated and followed for double primary colorectal and endometrial cancers at in a single institution between 1994 and 2014. If there was a family history that met the revised Amsterdam criteria for Lynch syndrome, the woman was considered to have 'clinically defined Lynch syndrome'. If immunohistochemical (IHC) loss of expression of mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) or high microsatellite instability (MSI) was demonstrated in molecular testing, the case was considered 'suspected Lynch syndrome'. The incidence of clinically defined Lynch syndrome according to the revised Amsterdam criteria was 66% (8 of 15). All 8 of the women clinically diagnosed with Lynch syndrome had either abnormal IHC loss or MSI-high, indicating a suspected Lynch syndrome. Furthermore, 27% (4 of 15) experienced second primary colorectal cancer or other Lynch syndrome-related cancers. Overall, 66% (10 of 15) met the criteria for clinically defined Lynch syndrome or suspected Lynch syndrome. Based on our findings, a large percentage (66%) of women with double primary cancers of the colorectum and endometrium are likely to be diagnosed with Lynch syndrome. Copyright © 2015. Published by Elsevier Ireland Ltd.

  16. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  17. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    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.

  18. How we treat Richter syndrome

    OpenAIRE

    Parikh, Sameer A.; Kay, Neil E.; Shanafelt, Tait D.

    2014-01-01

    Richter syndrome (RS) is defined as the transformation of chronic lymphocytic leukemia (CLL) into an aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL). RS occurs in approximately 2% to 10% of CLL patients during the course of their disease, with a transformation rate of 0.5% to 1% per year. A combination of germline genetic characteristics, clinical features (eg, advanced Rai stage), biologic (ζ-associated protein-70+, CD38+, CD49d+) and somatic genetic (del17p13.1 or d...

  19. Savant Syndrome: Clinical and Neuropsychological Features

    Directory of Open Access Journals (Sweden)

    Ibrahim Durukan

    2010-08-01

    Full Text Available Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Males outnumber females by an approximate 6 : 1 ratio in savant syndrome. Savant skills are limited to five general categories. These are music, art, calender calculating, mathematics and mechanical or spatial skills. Savant skills can also be divided into three as savants who have splinter skills, talented savants and prodigious savants. A remarkable memory welds to the special abilities determined in savant syndrome. Savant syndrome can be congenital or it can be acquired. Most often savant skills emerge in childhood, superimposed on some underlying developmental disability present at birth. However, acquired savant skills can also appear, when none were previously present, in neurotypical individuals following brain injury or disease later in infancy, childhood or adult life. Savant skills don’t depend on only rote memory. It is approved that an enhanced or spared ability to represent and manipulate highly organised domain-specific information. Various theoretic models were defined to explain the neuropsychological profile in savant syndrome. Interest in savants has a long history, stretching back to the early 18th century; nevertheless, the savant syndrome remains as much a mystery now as it did when it was first described. Given that many questions about the existence and nature of savant talent remain unanswered, it seems likely that research efforts will continue unabated.

  20. Agnosia, apraxia, callosal disconnection and other specific cognitive disorders.

    Science.gov (United States)

    Acciarresi, Monica

    2012-01-01

    Cortical function deficits have long been studied by anatomoclinic correlations. Recent functional imaging studies have allowed scientists to better understand which cerebral areas and which networks are involved in cognitive function deficit. This chapter will review the current knowledge on agnosia, apraxia and callosal disconnection syndromes. Copyright © 2012 S. Karger AG, Basel.

  1. A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma

    OpenAIRE

    Kientz, Caroline; Joly, Marie-Odile; Faivre, Laurence; Clemenson, Alix; Dalac, Sophie; Lepage, C?me; Chapusot, Caroline; Jacquot, Caroline; Schiappa, Renaud; Lebrun, Marine

    2017-01-01

    Background The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains di...

  2. Metabolic syndrome pathophysiology and clinical presentation.

    Science.gov (United States)

    Handelsman, Yehuda

    2009-01-01

    Metabolic syndrome is a relatively new definition, designed to help the health care practitioner to easily identify people at risk for the development of cardiovascular disease and diabetes. With the obesity epidemic, we are witnessing an epidemic of multiple-risk patients. Insulin resistance is the perceived pathophysiology of metabolic syndrome and defines its clinical presentation. Hypertension, dyslipedemia, polycystic ovarian syndrome, fatty liver disease, pre-diabetes, sleep and breathing disorder, certain cancers, and cognitive impairment are many of the presentations of the syndrome; patients with any of these conditions are at a high risk of developing cardiovascular disease and diabetes. The metabolic syndrome helps identify people at risk to allow early intervention for prevention. Lifestyle modification is the most important part of the management of people with the syndrome. Lately medications--though none approved by the U.S. Food and Drug Administration (FDA)--have been recommended by major medical societies when lifestyle modification is not enough or when it fails.

  3. Contractility Dispersion in Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    MH Nikoo

    2009-09-01

    Full Text Available Background: Previous studies, using M mode echocardiography, provided unexpected evidence of a mechanical alteration in patients with long QT syndrome. The aim of this study was to evaluate entire left ventricular (LV wall motion characteristics in patients with long QT syndrome using tissue Doppler imaging. Methods: We enrolled 17 patients with congenital long QT syndrome [11 female and 6 male], aged 21 to 45 years. 10 subjects without cardiac disease were also selected as a control group. Two-dimensional tissue Doppler imaging (TDI recording of the LV was obtained from the basal and mid-segments from apical four-chamber, two-chamber, and long-axis views. ‘Myocardial Contraction Duration’ [MCD] was defined as the time from start of R wave on ECG to end of S wave on TDI. MCD was measured in the six LV wall positions: septal, anteroseptal, lateral, inferior, posterior and anterior positions.Results: LV contractility dispersion was significantly greater in long QT syndrome patients compared to control group [0.051 ± 0.011 vs. 0.016 ± 0.06; P < 0.001]. Conclusion: Our study evaluated left ventricular dispersion of contractility duration in patients with long QT syndrome. This mechanical dispersion may be a reflection of the inhomogeneity of repolarisation in the long QT syndrome.

  4. On chronic fatigue syndrome and nosological categories.

    Science.gov (United States)

    Sharif, Kassem; Watad, Abdulla; Bragazzi, Nicola Luigi; Lichtbroun, Michael; Martini, Mariano; Perricone, Carlo; Amital, Howard; Shoenfeld, Yehuda

    2018-05-01

    Chronic fatigue syndrome (CFS) is a heterogeneous disease which presents with pronounced disabling fatigue, sleep disturbances, and cognitive impairment that negatively affects patients' functional capability. CFS remains a poorly defined entity and its etiology is still in question. CFS is neither a novel diagnosis nor a new medical condition. From as early as the eighteenth century, a constellation of perplexing symptoms was observed that resembled symptoms of CFS. Commencing with "febricula" and ending with CFS, many names for the disease were proposed including neurocirculatory asthenia, atypical poliomyelitis, Royal Free disease, effort syndrome, Akureyri disease, Tapanui disease, chronic Epstein-Barr virus syndrome, and myalgic encephalitis. To date, it remains unclear whether CFS has an autoimmune component or is a condition that precedes a full-blown autoimmune disease. Research suggests that CFS may overlap with other diseases including postural orthostatic tachycardia syndrome (POTS), autoimmune syndrome induced by adjuvants (ASIA), and Sjögren's syndrome. Additionally, it has been postulated that the earliest manifestations of some autoimmune diseases can present with vague non-specific symptoms similar to CFS. Sometimes only when exposed to a secondary stimulus (e.g., antigen) which could accelerate the natural course of the disease would an individual develop the classic autoimmune disease. Due to the similarity of symptoms, it has been postulated that CFS could simply be an early manifestation of an autoimmune disease. This paper will provide a historical background review of this disease and a discussion of CFS as an entity overlapping with multiple other conditions.

  5. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  6. Hepatorenal syndrome.

    Science.gov (United States)

    Papper, S

    1980-01-01

    Renal failure without apparent cause (the hepatorenal syndrome) may develop in the course of cirrhosis of the liver. While the development of renal failure bears a poor prognosis, spontaneous recovery can occur. The data suggest that for the most part patients die in rather than of renal failure. The latter seems to be only part of a broader more fundamental disturbance. The pathogenesis of HRS is unknown, but the evidence supports an impairment of effective renal perfusion. The two major hypotheses concerning the nature of the impaired perfusion are that it is a physiologic response to alterations in the extrarenal circulation, and that there is an unidentified humoral agent(s) produced by or inadequately inactivated by or bypassing the diseased liver and causing circulatory changes in the kidney as well as in other organs. It is possible that both mechanisms are operative. Treatment is unsatisfactory and emphasis is presently best placed upon searching for more treatable causes of renal functional impairment in individual patients.

  7. Mitral valve prolapse and Marfan syndrome.

    Science.gov (United States)

    Thacoor, Amitabh

    2017-07-01

    Marfan syndrome is a multisystemic genetic condition affecting connective tissue. It carries a reduced life expectancy, largely dependent on cardiovascular complications. More common cardiac manifestations such as aortic dissection and aortic valve incompetence have been widely documented in the literature. Mitral valve prolapse (MVP), however, has remained poorly documented. This article aims at exploring the existing literature on the pathophysiology and diagnosis of MVP in patients with Marfan syndrome, defining its current management and outlining the future developments surrounding it. © 2017 Wiley Periodicals, Inc.

  8. Positron emission tomography in the Rett syndrome

    International Nuclear Information System (INIS)

    Naidu, S.; Wong, D.F.; Kitt, C.; Wenk, G.; Moser, H.W.

    1992-01-01

    A consistent constellation of clinical signs and symptoms define the Rett syndrome, the most prominent of which are disorders of movement and tone. Preliminary pathologic and neurochemical data indicate predominant involvement of the nigrostriatal dopaminergic pathways and the cholinergic system of the basal forebrain region. The age of onset differentiates the Rett syndrome from Alzheimer and Parkinson disease with similar lesions. PET scanning makes it possible to relate the chemistry of the brain to function by measuring the number and affinity of neuroreceptors, metabolism in specific brain regions, and provide important determinants of the underlying mechanisms in disease states. (author)

  9. EXAMINATION RESULTS OF CHILDREN WITH CERVICAL SYNDROME

    Directory of Open Access Journals (Sweden)

    N. H. Bakhteeva

    2010-01-01

    Full Text Available By the example of examination of 80 children aged from 4 to 18 with cervical syndrome it is indicated, that the diagnosed abnormalities of hemodynamics in vertebrobasilar basin in patients of all age groups are connected both with bone and vascular pathology of the cervical part of the spine. The pathology has functional or congenital character. Early detection of discicirculatory vascular injuries in the cervical part of the spine in children with cervical syndrome will allow to define the therapeutic management of patients and to prolong juvenile osteochondrosis clinical behaviour.

  10. A case of possible Kounis syndrome as a complication of scombroid syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Rusconi

    2017-11-01

    Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

  11. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

    Science.gov (United States)

    Novara, Francesca; Alfei, Enrico; D'Arrigo, Stefano; Pantaleoni, Chiara; Beri, Silvana; Achille, Valentina; Sciacca, Francesca L; Giorda, Roberto; Zuffardi, Orsetta; Ciccone, Roberto

    2013-01-01

    Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  12. [Anticonvulsant hypersensitivity syndrome and lamotrigine-associated anticonvulsant hypersensitivity syndrome].

    Science.gov (United States)

    Taillia, H; Alla, P; Fournier, B; Bounolleau, P; Ouologem, M; Ricard, D; Sallansonnet-Froment, M; de Greslan, T; Renard, J-L

    2009-10-01

    Anticonvulsant hypersensitivity syndrome (AHS) is defined by the association of high fever, cutaneous rash and multiorgan-system abnormalities (incidence, one in 1000 to one in 10,000 exposures). Fatal complications are described in 10%. This reaction usually develops 1 to 12 weeks after initiation of an aromatic anticonvulsant. Drug rash with eosinophilia and systemic symptoms (DRESS) can be discussed as differential diagnosis. Several hypotheses have been put forward to explain the pathogenesis of AHS. These include accumulation of toxic metabolites, antibody production and viral infection. The one based on toxic metabolites has found the greatest acceptance due to the fact that it can be proven by an in vitro test, the lymphocyte toxicity assay. In vivo, skin biopsies show characteristic findings of erythema multiform or typical leucocytoclastic angitis. The patch-test is positive in 80% of the cases. Lamotrigine-associated anticonvulsant hypersensitivity syndrome (LASH) is rare and was described in 1998. We report two new cases demonstrating the two particular configurations of apparition of LASH found in the 14 cases from the review of literature (Pubmed: anticonvulsant hypersensitivity syndrome - lamotrigine): high doses of lamotrigine (or lamotrigine in very young or old patients), and lamotrigine associated with another anti-epileptic (phenobarbital or sodium valproate). We discuss the links between DRESS after lamotrigine and LASH as illustrated in a new case.

  13. Defining Multiple Chronic Conditions for Quality Measurement.

    Science.gov (United States)

    Drye, Elizabeth E; Altaf, Faseeha K; Lipska, Kasia J; Spatz, Erica S; Montague, Julia A; Bao, Haikun; Parzynski, Craig S; Ross, Joseph S; Bernheim, Susannah M; Krumholz, Harlan M; Lin, Zhenqiu

    2018-02-01

    Patients with multiple chronic conditions (MCCs) are a critical but undefined group for quality measurement. We present a generally applicable systematic approach to defining an MCC cohort of Medicare fee-for-service beneficiaries that we developed for a national quality measure, risk-standardized rates of unplanned admissions for Accountable Care Organizations. To define the MCC cohort we: (1) identified potential chronic conditions; (2) set criteria for cohort conditions based on MCC framework and measure concept; (3) applied the criteria informed by empirical analysis, experts, and the public; (4) described "broader" and "narrower" cohorts; and (5) selected final cohort with stakeholder input. Subjects were patients with chronic conditions. Participants included 21.8 million Medicare fee-for-service beneficiaries in 2012 aged 65 years and above with ≥1 of 27 Medicare Chronic Condition Warehouse condition(s). In total, 10 chronic conditions were identified based on our criteria; 8 of these 10 were associated with notably increased admission risk when co-occurring. A broader cohort (2+ of the 8 conditions) included 4.9 million beneficiaries (23% of total cohort) with an admission rate of 70 per 100 person-years. It captured 53% of total admissions. The narrower cohort (3+ conditions) had 2.2 million beneficiaries (10%) with 100 admissions per 100 person-years and captured 32% of admissions. Most stakeholders viewed the broader cohort as best aligned with the measure concept. By systematically narrowing chronic conditions to those most relevant to the outcome and incorporating stakeholder input, we defined an MCC admission measure cohort supported by stakeholders. This approach can be used as a model for other MCC outcome measures.

  14. How do pediatric anesthesiologists define intraoperative hypotension?

    Science.gov (United States)

    Nafiu, Olubukola O; Voepel-Lewis, Terri; Morris, Michelle; Chimbira, Wilson T; Malviya, Shobha; Reynolds, Paul I; Tremper, Kevin K

    2009-11-01

    Although blood pressure (BP) monitoring is a recommended standard of care by the ASA, and pediatric anesthesiologists routinely monitor the BP of their patients and when appropriate treat deviations from 'normal', there is no robust definition of hypotension in any of the pediatric anesthesia texts or journals. Consequently, what constitutes hypotension in pediatric anesthesia is currently unknown. We designed a questionnaire-based survey of pediatric anesthesiologists to determine the BP ranges and thresholds used to define intraoperative hypotension (IOH). Members of the Society of Pediatric Anesthesia (SPA) and the Association of Paediatric Anaesthetists (APA) of Great Britain and Ireland were contacted through e-mail to participate in this survey. We asked a few demographic questions and five questions about specific definitions of hypotension for different age groups of patients undergoing inguinal herniorraphy, a common pediatric surgical procedure. The overall response rate was 56% (483/860), of which 76% were SPA members. Majority of the respondents (72%) work in academic institutions, while 8.9% work in institutions with fewer than 1000 annual pediatric surgical caseload. About 76% of respondents indicated that a 20-30% reduction in baseline systolic blood pressure (SBP) indicates significant hypotension in children under anesthesia. Most responders (86.7%) indicated that they use mean arterial pressure or SBP (72%) to define IOH. The mean SBP values for hypotension quoted by SPA members was about 5-7% lower across all pediatric age groups compared to values quoted by APA members (P = 0.001 for all age groups). There is great variability in the BP parameters used and the threshold used for defining and treating IOH among pediatric anesthesiologists. The majority of respondents considered a 20-30% reduction from baseline in SBP as indicative of significant hypotension. Lack of a consensus definition for a common clinical condition like IOH could have

  15. Defining recovery in adult bulimia nervosa.

    Science.gov (United States)

    Yu, Jessica; Agras, W Stewart; Bryson, Susan

    2013-01-01

    To examine how different definitions of recovery lead to varying rates of recovery, maintenance of recovery, and relapse in bulimia nervosa (BN), end-of-treatment (EOT) and follow-up data were obtained from 96 adults with BN. Combining behavioral, physical, and psychological criteria led to recovery rates between 15.5% and 34.4% at EOT, though relapse was approximately 50%. Combining these criteria and requiring abstinence from binge eating and purging when defining recovery may lead to lower recovery rates than those found in previous studies; however, a strength of this definition is that individuals who meet this criteria have no remaining disordered behaviors or symptoms.

  16. Defining Marriage: Classification, Interpretation, and Definitional Disputes

    Directory of Open Access Journals (Sweden)

    Fabrizio Macagno

    2016-09-01

    Full Text Available The classification of a state of affairs under a legal category can be considered as a kind of con- densed decision that can be made explicit, analyzed, and assessed us- ing argumentation schemes. In this paper, the controversial conflict of opinions concerning the nature of “marriage” in Obergefell v. Hodges is analyzed pointing out the dialecti- cal strategies used for addressing the interpretive doubts. The dispute about the same-sex couples’ right to marry hides a much deeper disa- greement not only about what mar- riage is, but more importantly about the dialectical rules for defining it.

  17. Software defined networks a comprehensive approach

    CERN Document Server

    Goransson, Paul

    2014-01-01

    Software Defined Networks discusses the historical networking environment that gave rise to SDN, as well as the latest advances in SDN technology. The book gives you the state of the art knowledge needed for successful deployment of an SDN, including: How to explain to the non-technical business decision makers in your organization the potential benefits, as well as the risks, in shifting parts of a network to the SDN modelHow to make intelligent decisions about when to integrate SDN technologies in a networkHow to decide if your organization should be developing its own SDN applications or

  18. Software Defined Radio: Basic Principles and Applications

    Directory of Open Access Journals (Sweden)

    José Raúl Machado-Fernández

    2014-12-01

    Full Text Available The author makes a review of the SDR (Software Defined Radio technology, including hardware schemes and application fields. A low performance device is presented and several tests are executed with it using free software. With the acquired experience, SDR employment opportunities are identified for low-cost solutions that can solve significant problems. In addition, a list of the most important frameworks related to the technology developed in the last years is offered, recommending the use of three of them.

  19. Defining the Strategy of Nuclear Activity

    International Nuclear Information System (INIS)

    Racana, R.

    2006-01-01

    This article presents nuclear activity as defined within the field of the nuclear industry, which is studied from its capacity to generate electric power to its application in industry and medicine as well as a source for weapons of mass destruction. These fields of analysis introduce some problems that the nuclear activity itself must know how to confront employing action strategies aimed at becoming an activity to be kept in mind when making use of the benefits that its peaceful use contributes to human life. (Author)

  20. Animal bioavailability of defined xenobiotic lignin metabolites

    International Nuclear Information System (INIS)

    Sandermann, H. Jr.; Arjmand, M.; Gennity, I.; Winkler, R.; Struble, C.B.; Aschbacher, P.W.

    1990-01-01

    Lignin has been recognized as a major component of bound pesticide residues in plants and is thought to be undigestible in animals. Two defined ring-U- 14 C-labeled chloroaniline/lignin metabolites have now been fed to rats, where a release of ∼66% of the bound xenobiotic occurred in the form of simple chloroaniline derivatives. The observed high degree of bioavailability indicates that bound pesticidal residues may possess ecotoxicological significance. In parallel studies, the white-rot fungus Phanerochaete chrysosporium was more efficient, and a soil system was much less efficient, in the degradation of the [ring-U- 14 C]chloroaniline/lignin metabolites

  1. DEFINING THE CHEMICAL SPACE OF PUBLIC GENOMIC ...

    Science.gov (United States)

    The current project aims to chemically index the genomics content of public genomic databases to make these data accessible in relation to other publicly available, chemically-indexed toxicological information. By defining the chemical space of public genomic data, it is possible to identify classes of chemicals on which to develop methodologies for the integration of chemogenomic data into predictive toxicology. The chemical space of public genomic data will be presented as well as the methodologies and tools developed to identify this chemical space.

  2. Healthcare Engineering Defined: A White Paper.

    Science.gov (United States)

    Chyu, Ming-Chien; Austin, Tony; Calisir, Fethi; Chanjaplammootil, Samuel; Davis, Mark J; Favela, Jesus; Gan, Heng; Gefen, Amit; Haddas, Ram; Hahn-Goldberg, Shoshana; Hornero, Roberto; Huang, Yu-Li; Jensen, Øystein; Jiang, Zhongwei; Katsanis, J S; Lee, Jeong-A; Lewis, Gladius; Lovell, Nigel H; Luebbers, Heinz-Theo; Morales, George G; Matis, Timothy; Matthews, Judith T; Mazur, Lukasz; Ng, Eddie Yin-Kwee; Oommen, K J; Ormand, Kevin; Rohde, Tarald; Sánchez-Morillo, Daniel; Sanz-Calcedo, Justo García; Sawan, Mohamad; Shen, Chwan-Li; Shieh, Jiann-Shing; Su, Chao-Ton; Sun, Lilly; Sun, Mingui; Sun, Yi; Tewolde, Senay N; Williams, Eric A; Yan, Chongjun; Zhang, Jiajie; Zhang, Yuan-Ting

    2015-01-01

    Engineering has been playing an important role in serving and advancing healthcare. The term "Healthcare Engineering" has been used by professional societies, universities, scientific authors, and the healthcare industry for decades. However, the definition of "Healthcare Engineering" remains ambiguous. The purpose of this position paper is to present a definition of Healthcare Engineering as an academic discipline, an area of research, a field of specialty, and a profession. Healthcare Engineering is defined in terms of what it is, who performs it, where it is performed, and how it is performed, including its purpose, scope, topics, synergy, education/training, contributions, and prospects.

  3. Software defined networking applications in distributed datacenters

    CERN Document Server

    Qi, Heng

    2016-01-01

    This SpringerBrief provides essential insights on the SDN application designing and deployment in distributed datacenters. In this book, three key problems are discussed: SDN application designing, SDN deployment and SDN management. This book demonstrates how to design the SDN-based request allocation application in distributed datacenters. It also presents solutions for SDN controller placement to deploy SDN in distributed datacenters. Finally, an SDN management system is proposed to guarantee the performance of datacenter networks which are covered and controlled by many heterogeneous controllers. Researchers and practitioners alike will find this book a valuable resource for further study on Software Defined Networking. .

  4. Defining Starch Binding by Glucan Phosphatases

    DEFF Research Database (Denmark)

    Auger, Kyle; Raththagala, Madushi; Wilkens, Casper

    2015-01-01

    Starch is a vital energy molecule in plants that has a wide variety of uses in industry, such as feedstock for biomaterial processing and biofuel production. Plants employ a three enzyme cyclic process utilizing kinases, amylases, and phosphatases to degrade starch in a diurnal manner. Starch...... is comprised of the branched glucan amylopectin and the more linear glucan amylose. Our lab has determined the first structures of these glucan phosphatases and we have defined their enzymatic action. Despite this progress, we lacked a means to quickly and efficiently quantify starch binding to glucan...

  5. Healthcare Engineering Defined: A White Paper

    Directory of Open Access Journals (Sweden)

    Ming-Chien Chyu

    2015-01-01

    Full Text Available Engineering has been playing an important role in serving and advancing healthcare. The term “Healthcare Engineering” has been used by professional societies, universities, scientific authors, and the healthcare industry for decades. However, the definition of “Healthcare Engineering” remains ambiguous. The purpose of this position paper is to present a definition of Healthcare Engineering as an academic discipline, an area of research, a field of specialty, and a profession. Healthcare Engineering is defined in terms of what it is, who performs it, where it is performed, and how it is performed, including its purpose, scope, topics, synergy, education/training, contributions, and prospects.

  6. Software-defined reconfigurable microwave photonics processor.

    Science.gov (United States)

    Pérez, Daniel; Gasulla, Ivana; Capmany, José

    2015-06-01

    We propose, for the first time to our knowledge, a software-defined reconfigurable microwave photonics signal processor architecture that can be integrated on a chip and is capable of performing all the main functionalities by suitable programming of its control signals. The basic configuration is presented and a thorough end-to-end design model derived that accounts for the performance of the overall processor taking into consideration the impact and interdependencies of both its photonic and RF parts. We demonstrate the model versatility by applying it to several relevant application examples.

  7. Fingerprinting Software Defined Networks and Controllers

    Science.gov (United States)

    2015-03-01

    rps requests per second RTT Round-Trip Time SDN Software Defined Networking SOM Self-Organizing Map STP Spanning Tree Protocol TRW-CB Threshold Random...Protocol ( STP ) updates), in which case the frame will be “punted” from the forwarding lookup process and processed by the route processor [9]. The act of...environment 20 to accomplish the needs of B4. In addition to Google, the SDN market is expected to grow beyond $35 billion by April 2018 [31]. The rate

  8. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

    Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik

    2012-01-01

    Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....

  9. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  10. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  11. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  12. Marfan syndrome (image)

    Science.gov (United States)

    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, ...

  13. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  14. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  15. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  16. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... 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 ...

  17. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  18. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  19. Holmes-Adie Syndrome

    Science.gov (United States)

    ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

  20. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management

  1. Tics and Tourette Syndrome

    Science.gov (United States)

    ... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  2. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  3. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

    ... to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS Related Links Prevent Rodent Infestations Cleaning Up After Rodents Diseases From Rodent Hantavirus Pulmonary Syndrome (HPS) Recommend on Facebook Tweet Share Compartir Hantavirus Pulmonary Syndrome (HPS) is ...

  4. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  5. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  6. Burning Mouth Syndrome

    Science.gov (United States)

    ... Care Home Health Info Health Topics Burning Mouth Burning Mouth Syndrome (BMS) is a painful, complex condition often described ... or other symptoms. Read More Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF — Number of ...

  7. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder. Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Neuroleptic malignant syndrome is ...

  8. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

    Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

  9. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  10. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  11. Defining clogging potential for permeable concrete.

    Science.gov (United States)

    Kia, Alalea; Wong, Hong S; Cheeseman, Christopher R

    2018-08-15

    Permeable concrete is used to reduce urban flooding as it allows water to flow through normally impermeable infrastructure. It is prone to clogging by particulate matter and predicting the long-term performance of permeable concrete is challenging as there is currently no reliable means of characterising clogging potential. This paper reports on the performance of a range of laboratory-prepared and commercial permeable concretes, close packed glass spheres and aggregate particles of varying size, exposed to different clogging methods to understand this phenomena. New methods were developed to study clogging and define clogging potential. The tests involved applying flowing water containing sand and/or clay in cycles, and measuring the change in permeability. Substantial permeability reductions were observed in all samples, particularly when exposed to sand and clay simultaneously. Three methods were used to define clogging potential based on measuring the initial permeability decay, half-life cycle and number of cycles to full clogging. We show for the first time strong linear correlations between these parameters for a wide range of samples, indicating their use for service-life prediction. Copyright © 2018 Elsevier Ltd. All rights reserved.

  12. Defining an Open Source Strategy for NASA

    Science.gov (United States)

    Mattmann, C. A.; Crichton, D. J.; Lindsay, F.; Berrick, S. W.; Marshall, J. J.; Downs, R. R.

    2011-12-01

    Over the course of the past year, we have worked to help frame a strategy for NASA and open source software. This includes defining information processes to understand open source licensing, attribution, commerciality, redistribution, communities, architectures, and interactions within the agency. Specifically we held a training session at the NASA Earth Science Data Systems Working Group meeting in Open Source software as it relates to the NASA Earth Science data systems enterprise, including EOSDIS, the Distributed Active Archive Centers (DAACs), ACCESS proposals, and the MEASURES communities, and efforts to understand how open source software can be both consumed and produced within that ecosystem. In addition, we presented at the 1st NASA Open Source Summit (OSS) and helped to define an agency-level strategy, a set of recommendations and paths forward for how to identify healthy open source communities, how to deal with issues such as contributions originating from other agencies, and how to search out talent with the right skills to develop software for NASA in the modern age. This talk will review our current recommendations for open source at NASA, and will cover the set of thirteen recommendations output from the NASA Open Source Summit and discuss some of their implications for the agency.

  13. How Do You Define an Internship?

    Science.gov (United States)

    Wilson, C. E.; Keane, C.

    2017-12-01

    According to the American Geosciences Institute's Geoscience Student Exit Survey, internship participation rates over the past four years have been low, particularly among bachelor's and doctoral graduates. In 2016, 65% of bachelor's graduates, 44% of master's graduates, and 57% of doctoral graduates did not participate in an internship while working on their degree. When asked if they submitted applications for internship opportunities, 42% of bachelor's graduates, 23% of master's graduates, and 46% of doctoral graduates claimed to not submit any applications. These statistics have raised concern at AGI because internships provide experiences that help develop critical professional skills and industry connections that can lead to jobs after graduation. However, when internships are discussed among various representatives in geoscience industries, there are disagreements in how an internship experience is defined. For example, opinions differ on whether REUs or other research experiences count as an internship. Clear definitions of internship opportunities may help academic faculty and advisors direct students towards these opportunities and help develop a collection of resources for finding future internships. This presentation will present some of the recent statistics on internship participation among geoscience graduates and present a series of questions to ascertain defining features of internships among AGU attendees and where help is needed to increase participation in internships among current geoscience students.

  14. Defining Medical Capabilities for Exploration Missions

    Science.gov (United States)

    Hailey, M.; Antonsen, E.; Blue, R.; Reyes, D.; Mulcahy, R.; Kerstman, E.; Bayuse, T.

    2018-01-01

    Exploration-class missions to the moon, Mars and beyond will require a significant change in medical capability from today's low earth orbit centric paradigm. Significant increases in autonomy will be required due to differences in duration, distance and orbital mechanics. Aerospace medicine and systems engineering teams are working together within ExMC to meet these challenges. Identifying exploration medical system needs requires accounting for planned and unplanned medical care as defined in the concept of operations. In 2017, the ExMC Clinicians group identified medical capabilities to feed into the Systems Engineering process, including: determining what and how to address planned and preventive medical care; defining an Accepted Medical Condition List (AMCL) of conditions that may occur and a subset of those that can be treated effectively within the exploration environment; and listing the medical capabilities needed to treat those conditions in the AMCL. This presentation will discuss the team's approach to addressing these issues, as well as how the outputs of the clinical process impact the systems engineering effort.

  15. Distributed controller clustering in software defined networks.

    Directory of Open Access Journals (Sweden)

    Ahmed Abdelaziz

    Full Text Available Software Defined Networking (SDN is an emerging promising paradigm for network management because of its centralized network intelligence. However, the centralized control architecture of the software-defined networks (SDNs brings novel challenges of reliability, scalability, fault tolerance and interoperability. In this paper, we proposed a novel clustered distributed controller architecture in the real setting of SDNs. The distributed cluster implementation comprises of multiple popular SDN controllers. The proposed mechanism is evaluated using a real world network topology running on top of an emulated SDN environment. The result shows that the proposed distributed controller clustering mechanism is able to significantly reduce the average latency from 8.1% to 1.6%, the packet loss from 5.22% to 4.15%, compared to distributed controller without clustering running on HP Virtual Application Network (VAN SDN and Open Network Operating System (ONOS controllers respectively. Moreover, proposed method also shows reasonable CPU utilization results. Furthermore, the proposed mechanism makes possible to handle unexpected load fluctuations while maintaining a continuous network operation, even when there is a controller failure. The paper is a potential contribution stepping towards addressing the issues of reliability, scalability, fault tolerance, and inter-operability.

  16. Distributed controller clustering in software defined networks.

    Science.gov (United States)

    Abdelaziz, Ahmed; Fong, Ang Tan; Gani, Abdullah; Garba, Usman; Khan, Suleman; Akhunzada, Adnan; Talebian, Hamid; Choo, Kim-Kwang Raymond

    2017-01-01

    Software Defined Networking (SDN) is an emerging promising paradigm for network management because of its centralized network intelligence. However, the centralized control architecture of the software-defined networks (SDNs) brings novel challenges of reliability, scalability, fault tolerance and interoperability. In this paper, we proposed a novel clustered distributed controller architecture in the real setting of SDNs. The distributed cluster implementation comprises of multiple popular SDN controllers. The proposed mechanism is evaluated using a real world network topology running on top of an emulated SDN environment. The result shows that the proposed distributed controller clustering mechanism is able to significantly reduce the average latency from 8.1% to 1.6%, the packet loss from 5.22% to 4.15%, compared to distributed controller without clustering running on HP Virtual Application Network (VAN) SDN and Open Network Operating System (ONOS) controllers respectively. Moreover, proposed method also shows reasonable CPU utilization results. Furthermore, the proposed mechanism makes possible to handle unexpected load fluctuations while maintaining a continuous network operation, even when there is a controller failure. The paper is a potential contribution stepping towards addressing the issues of reliability, scalability, fault tolerance, and inter-operability.

  17. Molecular epidemiology of Usher syndrome in Italy.

    Science.gov (United States)

    Vozzi, Diego; Aaspõllu, Anu; Athanasakis, Emmanouil; Berto, Anna; Fabretto, Antonella; Licastro, Danilo; Külm, Maigi; Testa, Francesco; Trevisi, Patrizia; Vahter, Marju; Ziviello, Carmela; Martini, Alessandro; Simonelli, Francesca; Banfi, Sandro; Gasparini, Paolo

    2011-01-01

    Usher syndrome is an autosomal recessive disorder characterized by hearing and vision loss. Usher syndrome is divided into three clinical subclasses (type 1, type 2, and type 3), which differ in terms of the severity and progression of hearing loss and the presence or absence of vestibular symptoms. Usher syndrome is defined by significant genetic heterogeneity, with at least 12 distinct loci described and 9 genes identified. This study aims to provide a molecular epidemiology report of Usher syndrome in Italy. Molecular data have been obtained on 75 unrelated Italian patients using the most up-to date technology available for the screening of Usher syndrome gene mutations, i.e., the genotyping microarray developed by Asper Biotech (Tartu, Estonia), which simultaneously investigates 612 different marker positions using the well established arrayed primer extension methodology (APEX). Using this method, we found that 12% of cases (9 out of 75) harbored homozygous or compound heterozygous mutations in the gene positions analyzed, whereas 20% (15 out of 75) of the patients were characterized by the presence of only one mutated allele based on the positions analyzed. One patient was found to be compound heterozygous for mutations in two different genes and this represents an example of possible digenic inheritance in Usher syndrome. A total of 66.6% of cases (50 out of 75) were found to be completely negative for the presence of Usher syndrome gene mutations in the detected positions. Mutations detected by the array were confirmed by direct sequencing. These findings highlight the efficacy of the APEX-based genotyping approach in the molecular assessment of Usher patients, suggesting the presence of alleles not yet identified and/or the involvement of additional putative genes that may account for the pathogenesis of Usher syndrome.

  18. Molecular epidemiology of Usher syndrome in Italy

    Science.gov (United States)

    Vozzi, Diego; Aaspõllu, Anu; Athanasakis, Emmanouil; Berto, Anna; Fabretto, Antonella; Licastro, Danilo; Külm, Maigi; Testa, Francesco; Trevisi, Patrizia; Vahter, Marju; Ziviello, Carmela; Martini, Alessandro; Simonelli, Francesca; Banfi, Sandro

    2011-01-01

    Purpose Usher syndrome is an autosomal recessive disorder characterized by hearing and vision loss. Usher syndrome is divided into three clinical subclasses (type 1, type 2, and type 3), which differ in terms of the severity and progression of hearing loss and the presence or absence of vestibular symptoms. Usher syndrome is defined by significant genetic heterogeneity, with at least 12 distinct loci described and 9 genes identified. This study aims to provide a molecular epidemiology report of Usher syndrome in Italy. Methods Molecular data have been obtained on 75 unrelated Italian patients using the most up-to date technology available for the screening of Usher syndrome gene mutations, i.e., the genotyping microarray developed by Asper Biotech (Tartu, Estonia), which simultaneously investigates 612 different marker positions using the well established arrayed primer extension methodology (APEX). Results Using this method, we found that 12% of cases (9 out of 75) harbored homozygous or compound heterozygous mutations in the gene positions analyzed, whereas 20% (15 out of 75) of the patients were characterized by the presence of only one mutated allele based on the positions analyzed. One patient was found to be compound heterozygous for mutations in two different genes and this represents an example of possible digenic inheritance in Usher syndrome. A total of 66.6% of cases (50 out of 75) were found to be completely negative for the presence of Usher syndrome gene mutations in the detected positions. Mutations detected by the array were confirmed by direct sequencing. Conclusions These findings highlight the efficacy of the APEX-based genotyping approach in the molecular assessment of Usher patients, suggesting the presence of alleles not yet identified and/or the involvement of additional putative genes that may account for the pathogenesis of Usher syndrome. PMID:21738395

  19. PRES syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Novakova, M.; Balev, B.; Baleva, D.; Nedelchev, K.

    2010-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  20. Postthrombotic syndrome.

    Science.gov (United States)

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  1. [Molecular updates on Usher syndrome].

    Science.gov (United States)

    Roux, A-F

    2005-01-01

    Usher syndrome (USH) is an autosomal recessive disorder characterized by the association of sensorineural hearing loss and retinitis pigmentosa (RP). Usher syndrome is both clinically and genetically heterogeneous. Three clinical subtypes are defined with respect to vestibular dysfunction and the degree of hearing loss. Type I (USH1) patients have profound hearing loss and vestibular dysfunction from birth. Type II (USH2) is the most frequent and patients tend to have less severe hearing impairment and normal vestibular response. Type III (USH3) is characterized by a progressive loss of hearing and is found more frequently among Finnish patients. Recently, major breakthroughs have been made in the molecular genetics of Usher syndrome as a number of chromosomal loci and causative genes have been identified in each clinical subtype. Twelve loci are known and the corresponding genes have been cloned for six of them. Although their functions are not always clearly established, a common role is emerging for the proteins identified within each subtype. As a result, each subtype could emanate from defects affecting distinct cellular mechanisms.

  2. [Post-Lyme disease syndrome].

    Science.gov (United States)

    Błaut-Jurkowska, Justyna; Jurkowski, Marcin

    2016-02-01

    Lyme disease is a chronic infectious disease caused by the bacteria, spirochete of the Borrelia type. Skin, nervous system, musculoskeletal system and heart may be involved in the course of the disease. The prognosis for properly treated Lyme disease is usually good. However, in about 5% of patients so called Post-Lyme disease syndrome (PLSD) develops. It is defined as a syndrome of subjective symptoms persisting despite proper treatment of Borrelia burgdorferi infection. The most common symptoms include: fatigue, muscle and joint pain, and problems with memory and concentration. Pathogenesis of PLDS remains unknown. The differential diagnosis should include neurological, rheumatic and mental diseases. Till now there is no causative treatment of PLDS. In relieving symptom rehabilitation, painkillers, anti-inflammatory and antidepressants medicines are recommended. Emotional and psychological supports are also necessary. Non-specific symptoms reported by patients with post- Lyme disease syndrome raise the suspicion of other pathologies. This can lead to misdiagnosis and implementation of unnecessary, potentially harmful to the patient's therapy. An increase in tick-borne diseases needs to increase physicians awareness of these issues. © 2016 MEDPRESS.

  3. [Apheresis in antiphospholipid syndrome (APS)].

    Science.gov (United States)

    De Silvestro, Giustina; Tison, Tiziana; Marson, Piero

    2012-01-01

    Antiphospholipid syndrome (APS) is a rare clinical disorder characterized by thromboembolic manifestations and/or obstetric complications. Along with the clinical symptoms and signs, serum antiphospholipid antibodies have to be detected. APS can be primary, i.e., without any concomitant disorders, or secondary to other autoimmune diseases, particularly systemic lupus erythematosus. Criteria for the diagnosis of APS have been clearly established. Hyperacute APS (or catastrophic antiphospholipid syndrome), often with a poor prognosis, must meet four criteria: involvement of three or more organs, rapid evolution of clinical manifestations, microangiopathic occlusion of small blood vessels at biopsy, and presence of antiphospholipid antibodies. The rationale for apheresis treatment is the removal of pathogenetic antibodies involved in the development of tissue damage. Our experience includes 23 patients, in particular 15 women treated for 19 pregnancies. According to the National Guidelines Program, the effectiveness of apheresis in catastrophic syndrome has a level of evidence of V/VI, with a strength of recommendation A; in highrisk pregnancy it has a level of evidence of V with a strength of recommendation B. It will be necessary to better define the prognosis of various categories of pregnant patients with APS, as well as useful laboratory parameters to monitor its clinical course and anticipate any complications of pregnancy.

  4. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  5. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  6. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  7. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  8. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  9. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  10. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  11. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  12. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  13. How to define responders in osteoarthritis

    Science.gov (United States)

    Cooper, Cyrus; Adachi, Jonathan D.; Bardin, Thomas; Berenbaum, Francis; Flamion, Bruno; Jonsson, Helgi; Kanis, John A.; Pelousse, Franz; Lems, Willem F.; Pelletier, Jean-Pierre; Martel-Pelletier, Johanne; Reiter, Susanne; Reginster, Jean-Yves; Rizzoli, René; Bruyère, Olivier

    2013-01-01

    Background Osteoarthritis is a clinical syndrome of failure of the joint accompanied by varying degrees of joint pain, functional limitation, and reduced quality of life due to deterioration of articular cartilage and involvement of other joint structures. Scope Regulatory agencies require relevant clinical benefit on symptoms and structure modification for registration of a new therapy as a disease-modifying osteoarthritis drug (DMOAD). An international Working Group of the European Society on Clinical and Economic Aspects of Osteoporosis and Osteoarthritis (ESCEO) and International Osteoporosis Foundation was convened to explore the current burden of osteoarthritis, review current regulatory guidelines for the conduct of clinical trials, and examine the concept of responder analyses for improving drug evaluation in osteoarthritis. Findings The ESCEO considers that the major challenges in DMOAD development are the absence of a precise definition of the disease, particularly in the early stages, and the lack of consensus on how to detect structural changes and link them to clinically meaningful endpoints. Responder criteria should help identify progression of disease and be clinically meaningful. The ideal criterion should be sensitive to change over time and should predict disease progression and outcomes such as joint replacement. Conclusion The ESCEO considers that, for knee osteoarthritis, clinical trial data indicate that radiographic joint space narrowing >0.5 mm over 2 or 3 years might be a reliable surrogate measure for total joint replacement. On-going research using techniques such as magnetic resonance imaging and biochemical markers may allow the identification of these patients earlier in the disease process. PMID:23557069

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

    Science.gov (United States)

    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.

  15. Bladder pain syndrome/interstitial cystitis: a sense of urgency.

    Science.gov (United States)

    Hanno, Philip M; Chapple, Chris R; Cardozo, Linda D

    2009-12-01

    A classic triad of symptoms (bladder pain, urinary frequency, and urgency) has served to define bladder pain syndrome/painful bladder syndrome/interstitial cystitis (BPS/PBS/IC) syndrome. BPS/PBS/IC is a distinct condition and it is likely that the urgency experienced by these patients differs from that experienced by those with overactive bladder syndrome. It is unclear how best to define urgency in the BPS/PBS/IC setting. Differences in the other primary symptoms associated with these conditions probably influence how urgency is perceived. Advances in research into the pathophysiology of urgency and underlying disease processes will help to optimize both the diagnosis and treatment of BPS/PBS/IC.

  16. Plant-derived therapeutics for the treatment of metabolic syndrome.

    Science.gov (United States)

    Graf, Brittany L; Raskin, Ilya; Cefalu, William T; Ribnicky, David M

    2010-10-01

    Metabolic syndrome is defined as a set of coexisting metabolic disorders that increase an individual's likelihood of developing type 2 diabetes, cardiovascular disease and stroke. Medicinal plants, some of which have been used for thousands of years, serve as an excellent source of bioactive compounds for the treatment of metabolic syndrome because they contain a wide range of phytochemicals with diverse metabolic effects. In order for botanicals to be effectively used against metabolic syndrome, however, botanical preparations must be characterized and standardized through the identification of their active compounds and respective modes of action, followed by validation in controlled clinical trials with clearly defined endpoints. This review assesses examples of commonly known and partially characterized botanicals to describe specific considerations for the phytochemical, preclinical and clinical characterization of botanicals associated with metabolic syndrome.

  17. Reconfigurable, Cognitive Software-Defined Radio

    Science.gov (United States)

    Bhat, Arvind

    2015-01-01

    Software-defined radio (SDR) technology allows radios to be reconfigured to perform different communication functions without using multiple radios to accomplish each task. Intelligent Automation, Inc., has developed SDR platforms that switch adaptively between different operation modes. The innovation works by modifying both transmit waveforms and receiver signal processing tasks. In Phase I of the project, the company developed SDR cognitive capabilities, including adaptive modulation and coding (AMC), automatic modulation recognition (AMR), and spectrum sensing. In Phase II, these capabilities were integrated into SDR platforms. The reconfigurable transceiver design employs high-speed field-programmable gate arrays, enabling multimode operation and scalable architecture. Designs are based on commercial off-the-shelf (COTS) components and are modular in nature, making it easier to upgrade individual components rather than redesigning the entire SDR platform as technology advances.

  18. Nurse leader resilience: career defining moments.

    Science.gov (United States)

    Cline, Susan

    2015-01-01

    Resilience is an essential component of effective nursing leadership. It is defined as the ability to survive and thrive in the face of adversity. Resilience can be developed and internalized as a measure to improve retention and reduce burnout. Nurse leaders at all levels should develop these competencies to survive and thrive in an increasingly complex health care environment. Building positive relationships, maintaining positivity, developing emotional insight, creating work-life balance, and reflecting on successes and challenges are effective strategies for resilience building. Nurse leaders have a professional obligation to develop resilience in themselves, the teams they supervise, and the organization as a whole. Additional benefits include reduced turnover, reduced cost, and improved quality outcomes through organizational mindfulness.

  19. Defining and testing a granular continuum element

    Energy Technology Data Exchange (ETDEWEB)

    Rycroft, Chris H.; Kamrin, Ken; Bazant, Martin Z.

    2007-12-03

    Continuum mechanics relies on the fundamental notion of amesoscopic volume "element" in which properties averaged over discreteparticles obey deterministic relationships. Recent work on granularmaterials suggests a continuum law may be inapplicable, revealinginhomogeneities at the particle level, such as force chains and slow cagebreaking. Here, we analyze large-scale Discrete-Element Method (DEM)simulations of different granular flows and show that a "granularelement" can indeed be defined at the scale of dynamical correlations,roughly three to five particle diameters. Its rheology is rather subtle,combining liquid-like dependence on deformation rate and solid-likedependence on strain. Our results confirm some aspects of classicalplasticity theory (e.g., coaxiality of stress and deformation rate),while contradicting others (i.e., incipient yield), and can guide thedevelopment of more realistic continuum models.

  20. Defining and Distinguishing Secular and Religious Terrorism

    Directory of Open Access Journals (Sweden)

    Heather S. Gregg

    2014-04-01

    Full Text Available Religious terrorism is typically characterised as acts of unrestrained, irrational and indiscriminant violence, thus offering few if any policy options for counterterrorism measures. This assumption about religious terrorism stems from two challenges in the literature: disproportionate attention to apocalyptic terrorism, and a lack of distinction between religious terrorism and its secular counterpart. This article, therefore, aims to do four things: define and differentiate religiously motivated terrorism from traditional terrorism; investigate three goals of religious terrorism (fomenting the apocalypse, creating a religious government, and establishing a religiously pure state; consider the role of leadership and target selection of religious terrorists; and, finally, suggest a range of counterterrorism strategies based on these observations.

  1. "Defining Computer 'Speed': An Unsolved Challenge"

    CERN Multimedia

    CERN. Geneva

    2012-01-01

    Abstract: The reason we use computers is their speed, and the reason we use parallel computers is that they're faster than single-processor computers. Yet, after 70 years of electronic digital computing, we still do not have a solid definition of what computer 'speed' means, or even what it means to be 'faster'. Unlike measures in physics, where the definition of speed is rigorous and unequivocal, in computing there is no definition of speed that is universally accepted. As a result, computer customers have made purchases misguided by dubious information, computer designers have optimized their designs for the wrong goals, and computer programmers have chosen methods that optimize the wrong things. This talk describes why some of the obvious and historical ways of defining 'speed' haven't served us well, and the things we've learned in the struggle to find a definition that works. Biography: Dr. John Gustafson is a Director ...

  2. Using archetypes for defining CDA templates.

    Science.gov (United States)

    Moner, David; Moreno, Alberto; Maldonado, José A; Robles, Montserrat; Parra, Carlos

    2012-01-01

    While HL7 CDA is a widely adopted standard for the documentation of clinical information, the archetype approach proposed by CEN/ISO 13606 and openEHR is gaining recognition as a means of describing domain models and medical knowledge. This paper describes our efforts in combining both standards. Using archetypes as an alternative for defining CDA templates permit new possibilities all based on the formal nature of archetypes and their ability to merge into the same artifact medical knowledge and technical requirements for semantic interoperability of electronic health records. We describe the process followed for the normalization of existing legacy data in a hospital environment, from the importation of the HL7 CDA model into an archetype editor, the definition of CDA archetypes and the application of those archetypes to obtain normalized CDA data instances.

  3. Defining the critical hurdles in cancer immunotherapy

    DEFF Research Database (Denmark)

    Fox, Bernard A; Schendel, Dolores J; Butterfield, Lisa H

    2011-01-01

    of cancer immunotherapy. With consensus on these hurdles, international working groups could be developed to make recommendations vetted by the participating organizations. These recommendations could then be considered by regulatory bodies, governmental and private funding agencies, pharmaceutical...... immunotherapy organizations representing Europe, Japan, China and North America to discuss collaborations to improve development and delivery of cancer immunotherapy. One of the concepts raised by SITC and defined as critical by all parties was the need to identify hurdles that impede effective translation...... companies and academic institutions to facilitate changes necessary to accelerate clinical translation of novel immune-based cancer therapies. The critical hurdles identified by representatives of the collaborating organizations, now organized as the World Immunotherapy Council, are presented and discussed...

  4. Just caring: defining a basic benefit package.

    Science.gov (United States)

    Fleck, Leonard M

    2011-12-01

    What should be the content of a package of health care services that we would want to guarantee to all Americans? This question cannot be answered adequately apart from also addressing the issue of fair health care rationing. Consequently, as I argue in this essay, appeal to the language of "basic," "essential," "adequate," "minimally decent," or "medically necessary" for purposes of answering our question is unhelpful. All these notions are too vague to be useful. Cost matters. Effectiveness matters. The clinical circumstances of a patient matters. But what we must ultimately determine is what we mutually agree are the just claims to needed health care of each American in a relatively complex range of clinical circumstances. Answering this question will require a public moral conversation, a fair process of rational democratic deliberation aimed at defining both just claims to needed health care and just limits.

  5. Bruxism defined and graded: an international consensus.

    Science.gov (United States)

    Lobbezoo, F; Ahlberg, J; Glaros, A G; Kato, T; Koyano, K; Lavigne, G J; de Leeuw, R; Manfredini, D; Svensson, P; Winocur, E

    2013-01-01

    To date, there is no consensus about the definition and diagnostic grading of bruxism. A written consensus discussion was held among an international group of bruxism experts as to formulate a definition of bruxism and to suggest a grading system for its operationalisation. The expert group defined bruxism as a repetitive jaw-muscle activity characterised by clenching or grinding of the teeth and/or by bracing or thrusting of the mandible. Bruxism has two distinct circadian manifestations: it can occur during sleep (indicated as sleep bruxism) or during wakefulness (indicated as awake bruxism). For the operationalisation of this definition, the expert group proposes a diagnostic grading system of 'possible', 'probable' and 'definite' sleep or awake bruxism. The proposed definition and grading system are suggested for clinical and research purposes in all relevant dental and medical domains. © 2012 Blackwell Publishing Ltd.

  6. Defining and Supporting Narrative-driven Recommendation

    DEFF Research Database (Denmark)

    Bogers, Toine; Koolen, Marijn

    2017-01-01

    Research into recommendation algorithms has made great strides in recent years. However, these algorithms are typically applied in relatively straightforward scenarios: given information about a user's past preferences, what will they like in the future? Recommendation is often more complex......: evaluating recommended items never takes place in a vacuum, and it is often a single step in the user's more complex background task. In this paper, we define a specific type of recommendation scenario called narrative-driven recommendation, where the recommendation process is driven by both a log...... of the user's past transactions as well as a narrative description of their current interest(s). Through an analysis of a set of real-world recommendation narratives from the LibraryThing forums, we demonstrate the uniqueness and richness of this scenario and highlight common patterns and properties...

  7. Defining Service and Education in Pediatrics.

    Science.gov (United States)

    Boyer, Debra; Gagne, Josh; Kesselheim, Jennifer C

    2017-11-01

    Program directors (PDs) and trainees are often queried regarding the balance of service and education during pediatric residency training. We aimed to use qualitative methods to learn how pediatric residents and PDs define service and education and to identify activities that exemplify these concepts. Focus groups of pediatric residents and PDs were performed and the data qualitatively analyzed. Thematic analysis revealed 4 themes from focus group data: (1) misalignment of the perceived definition of service; (2) agreement about the definition of education; (3) overlapping perceptions of the value of service to training; and (4) additional suggestions for improved integration of education and service. Pediatric residents hold positive definitions of service and believe that service adds value to their education. Importantly, the discovery of heterogeneous definitions of service between pediatric residents and PDs warrants further investigation and may have ramifications for Accreditation Council for Graduate Medical Education and those responsible for residency curricula.

  8. Quantum computing. Defining and detecting quantum speedup.

    Science.gov (United States)

    Rønnow, Troels F; Wang, Zhihui; Job, Joshua; Boixo, Sergio; Isakov, Sergei V; Wecker, David; Martinis, John M; Lidar, Daniel A; Troyer, Matthias

    2014-07-25

    The development of small-scale quantum devices raises the question of how to fairly assess and detect quantum speedup. Here, we show how to define and measure quantum speedup and how to avoid pitfalls that might mask or fake such a speedup. We illustrate our discussion with data from tests run on a D-Wave Two device with up to 503 qubits. By using random spin glass instances as a benchmark, we found no evidence of quantum speedup when the entire data set is considered and obtained inconclusive results when comparing subsets of instances on an instance-by-instance basis. Our results do not rule out the possibility of speedup for other classes of problems and illustrate the subtle nature of the quantum speedup question. Copyright © 2014, American Association for the Advancement of Science.

  9. Software Defined Networking Demands on Software Technologies

    DEFF Research Database (Denmark)

    Galinac Grbac, T.; Caba, Cosmin Marius; Soler, José

    2015-01-01

    Software Defined Networking (SDN) is a networking approach based on a centralized control plane architecture with standardised interfaces between control and data planes. SDN enables fast configuration and reconfiguration of the network to enhance resource utilization and service performances....... This new approach enables a more dynamic and flexible network, which may adapt to user needs and application requirements. To this end, systemized solutions must be implemented in network software, aiming to provide secure network services that meet the required service performance levels. In this paper......, we review this new approach to networking from an architectural point of view, and identify and discuss some critical quality issues that require new developments in software technologies. These issues we discuss along with use case scenarios. Here in this paper we aim to identify challenges...

  10. Computing platforms for software-defined radio

    CERN Document Server

    Nurmi, Jari; Isoaho, Jouni; Garzia, Fabio

    2017-01-01

    This book addresses Software-Defined Radio (SDR) baseband processing from the computer architecture point of view, providing a detailed exploration of different computing platforms by classifying different approaches, highlighting the common features related to SDR requirements and by showing pros and cons of the proposed solutions. Coverage includes architectures exploiting parallelism by extending single-processor environment (such as VLIW, SIMD, TTA approaches), multi-core platforms distributing the computation to either a homogeneous array or a set of specialized heterogeneous processors, and architectures exploiting fine-grained, coarse-grained, or hybrid reconfigurability. Describes a computer engineering approach to SDR baseband processing hardware; Discusses implementation of numerous compute-intensive signal processing algorithms on single and multicore platforms; Enables deep understanding of optimization techniques related to power and energy consumption of multicore platforms using several basic a...

  11. Environmentally acceptable thread compounds: Requirements defined

    International Nuclear Information System (INIS)

    Stringfellow, W.D.; Hendriks, R.V.; Jacobs, N.L.

    1993-01-01

    New environmental regulations on thread compounds are now being enforced in several areas with strong maritime tradition and a sensitive environment. These areas include Indonesia, Alaska and portions of Norway. The industry generally recognizes the environmental concerns but, with wider enforcement of regulations imminent, has not been able to define clearly the requirements for environmental compliance. This paper, written in collaboration with The Netherlands State Supervision of Mines, is based on the National Policy on Thread Compounds of The Netherlands. This national policy is representative of policies being followed by other North Sea governments. Similar policies might well be adopted by other governments worldwide. These policies will affect the operator, drilling contractor, and supplier. This paper provides a specific and detailed definition of thread compound requirements by addressing four relevant categories. The categories of interest are regulatory approval, environmental, health, and performance

  12. Defining nodes in complex brain networks

    Directory of Open Access Journals (Sweden)

    Matthew Lawrence Stanley

    2013-11-01

    Full Text Available Network science holds great promise for expanding our understanding of the human brain in health, disease, development, and aging. Network analyses are quickly becoming the method of choice for analyzing functional MRI data. However, many technical issues have yet to be confronted in order to optimize results. One particular issue that remains controversial in functional brain network analyses is the definition of a network node. In functional brain networks a node represents some predefined collection of brain tissue, and an edge measures the functional connectivity between pairs of nodes. The characteristics of a node, chosen by the researcher, vary considerably in the literature. This manuscript reviews the current state of the art based on published manuscripts and highlights the strengths and weaknesses of three main methods for defining nodes. Voxel-wise networks are constructed by assigning a node to each, equally sized brain area (voxel. The fMRI time-series recorded from each voxel is then used to create the functional network. Anatomical methods utilize atlases to define the nodes based on brain structure. The fMRI time-series from all voxels within the anatomical area are averaged and subsequently used to generate the network. Functional activation methods rely on data from traditional fMRI activation studies, often from databases, to identify network nodes. Such methods identify the peaks or centers of mass from activation maps to determine the location of the nodes. Small (~10-20 millimeter diameter spheres located at the coordinates of the activation foci are then applied to the data being used in the network analysis. The fMRI time-series from all voxels in the sphere are then averaged, and the resultant time series is used to generate the network. We attempt to clarify the discussion and move the study of complex brain networks forward. While the correct method to be used remains an open, possibly unsolvable question that

  13. Exposing the Myths, Defining the Future

    International Nuclear Information System (INIS)

    Slavov, S.

    2013-01-01

    With this official statement, the WEC calls for policymakers and industry leaders to ''get real'' as the World Energy Council as a global energy body exposes the myths by informing the energy debate and defines a path to a more sustainable energy future. The World Energy Council urged stakeholders to take urgent and incisive actions, to develop and transform the global energy system. Failure to do so could put aspirations on the triple challenge of WEC Energy Trilemma defined by affordability, accessibility and environmental sustainability at serious risk. Through its multi-year in-depth global studies and issue-mapping the WEC has found that challenges that energy sector is facing today are much more crucial than previously envisaged. The WEC's analysis has exposed a number of myths which influence our understanding of important aspects of the global energy landscape. If not challenged, these misconceptions will lead us down a path of complacency and missed opportunities. Much has, and still is, being done to secure energy future, but the WEC' s studies reveal that current pathways fall short of delivering on global aspirations of energy access, energy security and environmental improvements. If we are to derive the full economic and social benefits from energy resources, then we must take incisive and urgent action to modify our steps to energy solutions. The usual business approaches are not effective, the business as usual is not longer a solution. The focus has moved from large universal solutions to an appreciation of regional and national contexts and sharply differentiated consumer expectations.(author)

  14. Radiotherapy for brain metastases: defining palliative response

    International Nuclear Information System (INIS)

    Bezjak, Andrea; Adam, Janice; Panzarella, Tony; Levin, Wilfred; Barton, Rachael; Kirkbride, Peter; McLean, Michael; Mason, Warren; Wong, Chong Shun; Laperriere, Normand

    2001-01-01

    Background and purpose: Most patients with brain metastases are treated with palliative whole brain radiotherapy (WBRT). There is no established definition of palliative response. The aim of this study was to develop and test clinically useful criteria for response following palliative WBRT. Materials and methods: A prospective study was conducted of patients with symptomatic brain metastases treated with WBRT (20 Gy/5 fractions) and standardised steroid tapering. Assessments included observer rating of neurological symptoms, patient-completed symptom checklist and performance status (PS). Response criteria were operationally defined based on a combination of neurological symptoms, PS and steroid dose. Results: Seventy-five patients were accrued. At 1 month, presenting neurological symptoms were improved in 14 patients, stable in 17, and worse in 21; 23 patients were not assessed, mainly due to death or frailty. Using response criteria defined a priori, 15% (95% CI 7-23%) of patients were classified as having a response to RT, 25% no response, and 29% progression; 27% were deceased at or soon after 1 month. A revised set of criteria was tested, with less emphasis on complete tapering of steroids: they increased the proportion of patients responding to 39% (95% CI 27-50%) but didn't change the large proportion who did not benefit (44%). Conclusions: Clinical response to RT of patients with brain metastases is multifactorial, comprising symptoms, PS and other factors. Assessment of degree of palliation depend on the exact definition used. More research is needed in this important area, to help validate criteria for assessing palliation after WBRT

  15. Defining Future Directions for Endometriosis Research

    Science.gov (United States)

    D’Hooghe, Thomas M.; Fazleabas, Asgerally; Giudice, Linda C.; Montgomery, Grant W.; Petraglia, Felice; Taylor, Robert N.

    2013-01-01

    Endometriosis, defined as estrogen-dependent lesions containing endometrial glands and stroma outside the uterus, is a chronic and often painful gynecological condition that affects 6% to 10% of reproductive age women. Endometriosis has estimated annual costs of US $12 419 per woman (approximately €9579), comprising one-third of the direct health care costs with two-thirds attributed to loss of productivity. Decreased quality of life is the most important predictor of direct health care and total costs. It has been estimated that there is a mean delay of 6.7 years between onset of symptoms and a surgical diagnosis of endometriosis, and each affected woman loses on average 10.8 hours of work weekly, mainly owing to reduced effectiveness while working. To encourage and facilitate research into this debilitating disease, a consensus workshop to define future directions for endometriosis research was held as part of the 11th World Congress on Endometriosis in September 2011 in Montpellier, France. The objective of this workshop was to review and update the endometriosis research priorities consensus statement developed following the 10th World Congress on Endometriosis in 2008.1 A total of 56 recommendations for research have been developed, grouped under 6 subheadings: (1) diagnosis, (2) classification and prognosis, (3) clinical trials, treatment, and outcomes, (4) epidemiology, (5) pathophysiology, and (6) research policy. By producing this consensus international research priorities statement, it is the hope of the workshop participants that researchers will be encouraged to develop new interdisciplinary research proposals that will attract increased funding support for work on endometriosis. PMID:23427182

  16. Diagnosis and management of catastrophic antiphospholipid syndrome.

    Science.gov (United States)

    Carmi, Or; Berla, Maya; Shoenfeld, Yehuda; Levy, Yair

    2017-04-01

    Catastrophic antiphospholipid syndrome (CAPS) is a rare, life-threatening disease. In 1992, Asherson defined it as a widespread coagulopathy related to the antiphospholipid antibodies (aPL). CAPS requires rapid diagnosis and prompt initiation of treatment. Areas covered: This paper discusses all aspects of CAPS, including its pathophysiology, clinical manifestations, diagnostic approaches, differential diagnoses, management and treatment of relapsing CAPS, and its prognosis. To obtain the information used in this review, scientific databases were searched using the key words antiphospholipid antibodies, catastrophic antiphospholipid syndrome, hemolytic anemia, lupus anticoagulant, and thrombotic microangiopathic hemolytic anemia. Expert commentary: CAPS is a rare variant of the antiphospholipid syndrome (APS). It is characterized by thrombosis in multiple organs and a cytokine storm developing over a short period, with histopathologic evidence of multiple microthromboses, and laboratory confirmation of high aPL titers. This review discusses the diagnostic challenges and current approaches to the treatment of CAPS.

  17. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available 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.

  18. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  19. Polyangiitis overlap syndrome of granulomatosis with polyangiitis (Wegener's granulomatosis) and eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome).

    Science.gov (United States)

    Uematsu, Hironori; Takata, Shohei; Sueishi, Katsuo; Inoue, Hiromasa

    2014-02-27

    Polyangiitis overlap syndrome is defined as systemic vasculitis that cannot be classified into one of the well-defined vasculitic syndromes. In this report, a female patient who presented with vasculitis-like and asthmatic symptoms was diagnosed as having polyangiitis overlap syndrome of granulomatosis with polyangiitis (GPA; formerly known as Wegener's granulomatosis) and eosinophilic granulomatosis with polyangiitis (EGPA; formerly known as Churg-Strauss syndrome). The patient fulfilled the American College of Rheumatology diagnostic criteria for GPA and EGPA. She was successfully treated with immunosuppressants and steroids and has been in remission for 20 months. It is important to establish a proper diagnosis and introduce an appropriate treatment modality in patients with this rare and serious pathology to prevent irreversible organ damage.

  20. Patellofemoral Arthralgia, Overuse Syndromes of the Knee, and Chondromalacia Patella

    OpenAIRE

    Welsh, R. Peter

    1985-01-01

    Patellofemoral arthralgia is a very common syndrome affecting athletes. Most often, examination fails to define true pathology. Conservative treatment, an active exercise program, and sports may be undertaken without harm to the knee. The patellofemoral arthralgia syndrome must be differentiated from true chondromalacia patella, where there is actual degeneration of the patella's articular cartilage, and from other sources of internal derangement such as meniscal disease or osteochondral lesi...